Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000008.11:g.(?_89921080)_(89984561_?)del | 4683 | NBN | Pathogenic | -1 | RCV000708126; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90933308 | 90996789 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.10:g.(?_90944564)_(90997899_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV001304491; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90944564 | 90997899 | | | -1 | - | | |
NM_002485.4(NBN):c.*2252T>A | 4683 | NBN | Uncertain significance | 1002146586 | RCV001159747; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945558 | 90945558 | | | 8:g.90945558A>T | - | | |
NC_000008.10:g.(?_90945564)_(90971082_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV000471493; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945564 | 90971082 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*2212G>A | 4683 | NBN | Benign | 10464867 | RCV000284864; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945598 | 90945598 | | | NC_000008.10:g.90945598C>T | ClinGen:CA10631625 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*2206C>T | 4683 | NBN | Uncertain significance | 547081912 | RCV001159748; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945604 | 90945604 | | | 8:g.90945604G>A | - | | |
NM_002485.5(NBN):c.*2188T>C | 4683 | NBN | Uncertain significance | 190894937 | RCV001159749; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945622 | 90945622 | | | 8:g.90945622A>G | - | | |
NM_002485.5(NBN):c.*2129G>T | 4683 | NBN | Likely benign | 117807915 | RCV001159750; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945681 | 90945681 | | | 8:g.90945681C>A | - | | |
NM_002485.5(NBN):c.*2059A>C | 4683 | NBN | Uncertain significance | 755199398 | RCV001159751; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945751 | 90945751 | | | 8:g.90945751T>G | - | | |
NM_002485.5(NBN):c.*1977T>C | 4683 | NBN | Benign | 14448 | RCV000341427; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945833 | 90945833 | | | NC_000008.10:g.90945833A>G | ClinGen:CA10631718 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*1961T>C | 4683 | NBN | Benign | 13312987 | RCV000397384; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945849 | 90945849 | | | NC_000008.10:g.90945849A>G | ClinGen:CA10631720 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*1869_*1872del | 4683 | NBN | Uncertain significance | 886063163 | RCV000278275; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945938 | 90945941 | | | NC_000008.10:g.90945940_90945943del | ClinGen:CA10625882 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*1823T>C | 4683 | NBN | Uncertain significance | 556606685 | RCV000335711; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90945987 | 90945987 | | | NC_000008.10:g.90945987A>G | ClinGen:CA10631631 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*1754T>C | 4683 | NBN | Benign | 9995 | RCV000397319; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946056 | 90946056 | | | NC_000008.10:g.90946056A>G | ClinGen:CA10628373 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*1692A>G | 4683 | NBN | Benign | 13312986 | RCV000300605; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946118 | 90946118 | | | NC_000008.10:g.90946118T>C | ClinGen:CA10628374 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*1642A>G | 4683 | NBN | Uncertain significance | 769415813 | RCV001161154; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946168 | 90946168 | | | 8:g.90946168T>C | - | | |
NM_002485.5(NBN):c.*1583G>A | 4683 | NBN | Likely benign | 139384734 | RCV001161155; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946227 | 90946227 | | | 8:g.90946227C>T | - | | |
NM_002485.5(NBN):c.*1562A>G | 4683 | NBN | Uncertain significance | 1809551804 | RCV001161156; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946248 | 90946248 | | | 8:g.90946248T>C | - | | |
NM_002485.5(NBN):c.*1400C>T | 4683 | NBN | Uncertain significance | 532490798 | RCV001161157; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946410 | 90946410 | | | 8:g.90946410G>A | - | | |
NM_002485.5(NBN):c.*1297T>G | 4683 | NBN | Uncertain significance | 547479870 | RCV001161158; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946513 | 90946513 | | | 8:g.90946513A>C | - | | |
NM_002485.5(NBN):c.*1287A>G | 4683 | NBN | Uncertain significance | 989124878 | RCV001162710; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946523 | 90946523 | | | 8:g.90946523T>C | - | | |
NM_002485.5(NBN):c.*1267A>G | 4683 | NBN | Uncertain significance | 1356012750 | RCV001162711; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946543 | 90946543 | | | 8:g.90946543T>C | - | | |
NM_002485.5(NBN):c.*1222A>C | 4683 | NBN | Likely benign | 13312985 | RCV001162712; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946588 | 90946588 | | | 8:g.90946588T>G | - | | |
NM_002485.5(NBN):c.*1220C>G | 4683 | NBN | Uncertain significance | 1040887182 | RCV001162713; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946590 | 90946590 | | | 8:g.90946590G>C | - | | |
NM_002485.5(NBN):c.*1209A>C | 4683 | NBN | Benign | 1063054 | RCV000366927; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946601 | 90946601 | | | NC_000008.10:g.90946601T>G | ClinGen:CA10628375 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*1013G>A | 4683 | NBN | Benign | 13312984 | RCV000399876; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946797 | 90946797 | | | NC_000008.10:g.90946797C>T | ClinGen:CA10631632 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*987T>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 78935210 | RCV000313620|RCV003422362; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90946823 | 90946823 | | | NC_000008.10:g.90946823A>C | ClinGen:CA10628378 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*983G>A | 4683 | NBN | Uncertain significance | 13312983 | RCV000370630; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946827 | 90946827 | | | NC_000008.10:g.90946827C>T | ClinGen:CA10631638 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*937T>C | 4683 | NBN | Benign | 11987865 | RCV000269052; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946873 | 90946873 | | | NC_000008.10:g.90946873A>G | ClinGen:CA10631648 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*829T>A | 4683 | NBN | Uncertain significance | 752958453 | RCV001164771; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90946981 | 90946981 | | | 8:g.90946981A>T | - | | |
NM_002485.5(NBN):c.*790T>G | 4683 | NBN | Benign | 11987887 | RCV000326439; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947020 | 90947020 | | | NC_000008.10:g.90947020A>C | ClinGen:CA10625883 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*757A>G | 4683 | NBN | Benign | 13312981 | RCV000364888; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947053 | 90947053 | | | NC_000008.10:g.90947053T>C | ClinGen:CA10625888 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*680A>G | 4683 | NBN | Uncertain significance | 1809594322 | RCV001164772; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947130 | 90947130 | | | 8:g.90947130T>C | - | | |
NM_002485.5(NBN):c.*638G>A | 4683 | NBN | Uncertain significance | 976356195 | RCV001164773; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947172 | 90947172 | | | 8:g.90947172C>T | - | | |
NM_002485.5(NBN):c.*541G>C | 4683 | NBN | Benign | 2735383 | RCV000272651; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947269 | 90947269 | | | NC_000008.10:g.90947269C>G | ClinGen:CA10631736 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.11:g.(?_89935041)_(90051917_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV001033505; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947269 | 91064145 | | | -1 | - | | |
NM_002485.5(NBN):c.*522T>C | 4683 | NBN | Uncertain significance | 886063164 | RCV000320788; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947288 | 90947288 | | | NC_000008.10:g.90947288A>G | ClinGen:CA10631740 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*504A>G | 4683 | NBN | Uncertain significance | 3780123 | RCV001159854; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947306 | 90947306 | | | 8:g.90947306T>C | - | | |
NM_002485.5(NBN):c.*485A>G | 4683 | NBN | Uncertain significance | 886063165 | RCV000377744; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947325 | 90947325 | | | NC_000008.10:g.90947325T>C | ClinGen:CA10625891 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*419C>T | 4683 | NBN | Benign | 13312979 | RCV000286811; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947391 | 90947391 | | | NC_000008.10:g.90947391G>A | ClinGen:CA10625892 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*401C>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 104895030 | RCV000114873|RCV000316124; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947409 | 90947409 | | | 8:g.90947409G>C | ClinGen:CA230725 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*364_*393del | 4683 | NBN | Uncertain significance | 1554553737 | RCV000674120; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947417 | 90947446 | | | 8:g.90947417_90947446del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*352C>G | 4683 | NBN | Uncertain significance | 13312978 | RCV001159855; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947458 | 90947458 | | | 8:g.90947458G>C | - | | |
NM_002485.5(NBN):c.*273G>A | 4683 | NBN | Benign | 1063053 | RCV000373039|RCV001712767; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90947537 | 90947537 | | | NC_000008.10:g.90947537C>T | ClinGen:CA10631649 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*226T>C | 4683 | NBN | Uncertain significance | 886063166 | RCV000280861; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947584 | 90947584 | | | NC_000008.10:g.90947584A>G | ClinGen:CA10631742 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.*123T>A | 4683 | NBN | Uncertain significance | 886063167 | RCV000338166; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947687 | 90947687 | | | NC_000008.10:g.90947687A>T | ClinGen:CA10631744 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.11:g.(?_89935572)_(89984571_?)del | 4683 | NBN | Pathogenic | -1 | RCV000708452; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947800 | 90996799 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.10:g.(?_90947800)_(90996799_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV000708103; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947800 | 90996799 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.10:g.(?_90947800)_(90971092_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV000813347; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947800 | 90971092 | | | | - | | |
NC_000008.11:g.(?_89935572)_(89964517_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV001031886; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947800 | 90976745 | | | -1 | - | | |
NC_000008.11:g.(?_89935576)_(89937081_?)del | 4683 | NBN | Likely pathogenic | -1 | RCV000546060; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947804 | 90949309 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.10:g.(?_90947804)_(90996795_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV000558454; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947804 | 90996795 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.10:g.(?_90947804)_(90955600_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV000636823; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947804 | 90955600 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.11:g.(?_89935576)_(89981529_?)del | 4683 | NBN | Pathogenic | -1 | RCV000636822; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947804 | 90993757 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.4(NBN):c.2185-?_*(1_?)del | 4683 | NBN | Likely pathogenic | -1 | RCV000195535; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947809 | 90949303 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.11:g.(?_89935582)_(89937085_?)del | 4683 | NBN | Likely pathogenic | -1 | RCV001033224; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947810 | 90949313 | | | -1 | - | | |
NC_000008.11:g.(?_89935582)_(89958864_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV001033777; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947810 | 90971092 | | | -1 | - | | |
NC_000008.11:g.(?_89935582)_(89984561_?)del | 4683 | NBN | Pathogenic | -1 | RCV001033478; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947810 | 90996789 | | | -1 | - | | |
NC_000008.11:g.(?_89935582)_(89984561_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV001031060; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947810 | 90996789 | | | -1 | - | | |
NC_000008.10:g.(?_90947810)_(90967793_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV002020657; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947810 | 90967793 | | | -1 | - | | |
NC_000008.10:g.(?_90947810)_(90960130_?)del | 4683 | NBN | Likely pathogenic | -1 | RCV003107696; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947810 | 90960130 | | | | - | | |
NC_000008.10:g.(?_90947810)_(90958533_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV003107702; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947810 | 90958533 | | | | - | | |
NC_000008.10:g.(?_90947810)_(90976745_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV003107703; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947810 | 90976745 | | | | - | | |
NM_002485.5(NBN):c.2260A>C (p.Arg754=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 2130735641 | RCV001771302|RCV002540531; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947815 | 90947815 | | | 90947815 | - | | |
NM_002485.5(NBN):c.2260A>G (p.Arg754Gly) | 4683 | NBN | Uncertain significance | -1 | RCV002690929; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947815 | 90947815 | | | NC_000008.10:g.90947815T>C | - | | |
NM_002485.5(NBN):c.2259A>G (p.Arg753=) | 4683 | NBN | Likely benign | 765391308 | RCV001490803; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947816 | 90947816 | | | 90947816 | - | | |
NM_002485.5(NBN):c.2258G>C (p.Arg753Thr) | 4683 | NBN | Uncertain significance | 773020664 | RCV000403315; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947817 | 90947817 | | | NC_000008.10:g.90947817C>G | ClinGen:CA10631746 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2258G>A (p.Arg753Lys) | 4683 | NBN | Uncertain significance | 773020664 | RCV000685557; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947817 | 90947817 | | | 8:g.90947817C>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2256_2258del (p.Arg754del) | 4683 | NBN | Uncertain significance | 1809632212 | RCV001313010|RCV002447325; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90947817 | 90947819 | | | 90947816 | - | | |
NM_002485.5(NBN):c.2256del (p.Arg753fs) | 4683 | NBN | Uncertain significance | 1809632346 | RCV001058000; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947819 | 90947819 | | | 8:g.90947819_90947819del | - | | |
NM_002485.5(NBN):c.2255G>C (p.Arg752Thr) | 4683 | NBN | Uncertain significance | -1 | RCV002443621|RCV003098754; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947820 | 90947820 | | | 90947820 | - | | |
NM_002485.5(NBN):c.2250A>T (p.Leu750Phe) | 4683 | NBN | Uncertain significance | 1554553868 | RCV000529264|RCV002448665; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90947825 | 90947825 | | | NC_000008.10:g.90947825T>A | ClinGen:CA371674690 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2247T>C (p.Tyr749=) | 4683 | NBN | Benign/Likely benign | 762740478 | RCV000162748|RCV000553270|RCV001582638|RCV001651031|RCV003315983; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontolog | 8 | 90947828 | 90947828 | | | 8:g.90947828A>G | ClinGen:CA186866 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe) | 4683 | NBN | Uncertain significance | 864622446 | RCV000205239|RCV000219183; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90947829 | 90947829 | | | 8:g.90947829T>A | ClinGen:CA349423 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2244T>A (p.Pro748=) | 4683 | NBN | Likely benign | 1554553884 | RCV000636816|RCV002420714; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90947831 | 90947831 | | | NC_000008.10:g.90947831A>T | ClinGen:CA461836238 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2242C>T (p.Pro748Ser) | 4683 | NBN | Uncertain significance | 1809633675 | RCV001337785; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947833 | 90947833 | | | 90947833 | - | | |
NM_002485.5(NBN):c.2240A>G (p.Asn747Ser) | 4683 | NBN | Uncertain significance | 766237464 | RCV000545104|RCV000564498|RCV000985875; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90947835 | 90947835 | | | 8:g.90947835T>C | ClinGen:CA4802561 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2240A>T (p.Asn747Ile) | 4683 | NBN | Uncertain significance | 766237464 | RCV001236948|RCV002430012; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90947835 | 90947835 | | | 8:g.90947835T>A | - | | |
NM_002485.5(NBN):c.2239A>G (p.Asn747Asp) | 4683 | NBN | Uncertain significance | -1 | RCV003038671; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947836 | 90947836 | | | NC_000008.10:g.90947836T>C | - | | |
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) | 4683 | NBN | Conflicting interpretations of pathogenicity | 751570713 | RCV000564630|RCV000578737|RCV000698449; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947837 | 90947837 | | | NC_000008.10:g.90947837G>T | ClinGen:CA4802562 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter) | 4683 | NBN | Likely pathogenic | 751570713 | RCV000670725; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947837 | 90947837 | | | 8:g.90947837G>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2238C>T (p.Tyr746=) | 4683 | NBN | Likely benign | 751570713 | RCV001432171; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947837 | 90947837 | | | 90947837 | - | | |
NM_002485.5(NBN):c.2237A>G (p.Tyr746Cys) | 4683 | NBN | Uncertain significance | 1554553893 | RCV000565543|RCV001858118; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947838 | 90947838 | | | NC_000008.10:g.90947838T>C | ClinGen:CA371674719 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2235A>G (p.Arg745=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 754865465 | RCV000581635|RCV001853930; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947840 | 90947840 | | | 8:g.90947840T>C | ClinGen:CA4802563 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2235-2A>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 767094704 | RCV000669126|RCV003303097; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90947842 | 90947842 | | | 8:g.90947842T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2235-3C>T | 4683 | NBN | Uncertain significance | 1554553897 | RCV000568874|RCV000759175|RCV001800778; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947843 | 90947843 | | | NC_000008.10:g.90947843G>A | ClinGen:CA658657781 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2235-5T>G | 4683 | NBN | Likely benign | 2130735796 | RCV001402461; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947845 | 90947845 | | | 90947845 | - | | |
NM_002485.5(NBN):c.2235-8_2235-5del | 4683 | NBN | Likely benign | 2130735801 | RCV002140202; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947845 | 90947848 | | | 90947844 | - | | |
NM_002485.5(NBN):c.2235-8C>T | 4683 | NBN | Likely benign | 369037495 | RCV000461235|RCV000605954; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90947848 | 90947848 | | | NC_000008.10:g.90947848G>A | ClinGen:CA4802565 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2235-9T>C | 4683 | NBN | Likely benign | 1162154079 | RCV001406502; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947849 | 90947849 | | | 8:g.90947849A>G | - | | |
NM_002485.5(NBN):c.2235-11T>C | 4683 | NBN | Likely benign | -1 | RCV002741729; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947851 | 90947851 | | | NC_000008.10:g.90947851A>G | - | | |
NM_002485.5(NBN):c.2235-12C>T | 4683 | NBN | Likely benign | 1554553904 | RCV000667854; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947852 | 90947852 | | | 8:g.90947852G>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2235-12C>G | 4683 | NBN | Likely benign | -1 | RCV002629201; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947852 | 90947852 | | | NC_000008.10:g.90947852G>C | - | | |
NM_002485.5(NBN):c.2235-16A>C | 4683 | NBN | Likely benign | 1405688125 | RCV002529270; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947856 | 90947856 | | | NC_000008.10:g.90947856T>G | ClinGen:CA658683523 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2235-16A>G | 4683 | NBN | Likely benign | 1405688125 | RCV002215993; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947856 | 90947856 | | | 90947856 | - | | |
NM_002485.5(NBN):c.2235-18C>T | 4683 | NBN | Benign/Likely benign | 138106214 | RCV000160777|RCV000679461|RCV002053934; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947858 | 90947858 | | | NC_000008.10:g.90947858G>A | ClinGen:CA299590 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2235-19C>T | 4683 | NBN | Likely benign | 1057524430 | RCV000426110|RCV002063632; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947859 | 90947859 | | | 8:g.90947859G>A | ClinGen:CA16605505 | CN169374 not specified; | |
NM_002485.5(NBN):c.2235-20C>T | 4683 | NBN | Likely benign | -1 | RCV002932709; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90947860 | 90947860 | | | NC_000008.10:g.90947860G>A | - | | |
NM_002485.5(NBN):c.2234+17C>T | 4683 | NBN | Likely benign | 1057524773 | RCV000443550|RCV002525521; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949237 | 90949237 | | | 8:g.90949237G>A | ClinGen:CA16605420 | CN169374 not specified; | |
NM_002485.5(NBN):c.2234+16C>T | 4683 | NBN | Likely benign | 1563497498 | RCV000679460|RCV002060850; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949238 | 90949238 | | | NC_000008.10:g.90949238G>A | - | CN517202 not provided; | |
NM_002485.5(NBN):c.2234+16C>A | 4683 | NBN | Likely benign | 1563497498 | RCV002069128; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949238 | 90949238 | | | 8:g.90949238G>T | - | | |
NM_002485.5(NBN):c.2234+14C>T | 4683 | NBN | Likely benign | 763071338 | RCV000417621|RCV002521563; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949240 | 90949240 | | | 8:g.90949240G>A | ClinGen:CA4802581 | CN169374 not specified; | |
NM_002485.5(NBN):c.2234+14C>G | 4683 | NBN | Likely benign | 763071338 | RCV002068181; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949240 | 90949240 | | | 8:g.90949240G>C | - | | |
NM_002485.5(NBN):c.2234+13T>C | 4683 | NBN | Likely benign | 2130739022 | RCV002095060; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949241 | 90949241 | | | 90949241 | - | | |
NM_002485.5(NBN):c.2234+12T>C | 4683 | NBN | Likely benign | 1057523867 | RCV000442524|RCV002060001; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949242 | 90949242 | | | 8:g.90949242A>G | ClinGen:CA16605421 | CN169374 not specified; | |
NM_002485.5(NBN):c.2234+9T>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 1446505128 | RCV000506398|RCV000926687; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949245 | 90949245 | | | 8:g.90949245A>C | ClinGen:CA583377701 | CN169374 not specified; | |
NM_002485.5(NBN):c.2234+9T>C | 4683 | NBN | Likely benign | 1446505128 | RCV002174312; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949245 | 90949245 | | | 90949245 | - | | |
NM_002485.5(NBN):c.2234+5A>G | 4683 | NBN | Uncertain significance | 1586024121 | RCV000808253; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949249 | 90949249 | | | 8:g.90949249T>C | - | | |
NM_002485.5(NBN):c.2234+5A>C | 4683 | NBN | Uncertain significance | 1586024121 | RCV000796777; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949249 | 90949249 | | | 8:g.90949249T>G | - | | |
NM_002485.5(NBN):c.2226_2234+4del | 4683 | NBN | Likely pathogenic | 1563497529 | RCV000690766|RCV002424617; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90949250 | 90949262 | | | NC_000008.10:g.90949251_90949263del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2234+2T>G | 4683 | NBN | Likely pathogenic | 142301194 | RCV000164379|RCV000508046|RCV000636785|RCV003474858; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90949252 | 90949252 | | | 8:g.90949252A>C | ClinGen:CA190813 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2234+1G>T | 4683 | NBN | Likely pathogenic | 1586024147 | RCV001014894|RCV001236246; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949253 | 90949253 | | | 8:g.90949253C>A | - | | |
NM_002485.5(NBN):c.2234+1G>A | 4683 | NBN | Likely pathogenic | 1586024147 | RCV001062133; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949253 | 90949253 | | | 8:g.90949253C>T | - | | |
NM_002485.5(NBN):c.2232del (p.Phe744fs) | 4683 | NBN | Uncertain significance | 1554554233 | RCV000532625|RCV000679459; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN517202 | 8 | 90949256 | 90949256 | | | NC_000008.10:g.90949260del | ClinGen:CA658657783 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2232T>C (p.Phe744=) | 4683 | NBN | Likely benign | -1 | RCV002428274|RCV003101153; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949256 | 90949256 | | | | - | | |
NM_002485.5(NBN):c.2227_2228del (p.Leu743fs) | 4683 | NBN | Uncertain significance | 876659551 | RCV000215231|RCV000666188; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949260 | 90949261 | | | 8:g.90949260_90949261del | ClinGen:CA10578740 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2228T>G (p.Leu743Arg) | 4683 | NBN | Uncertain significance | -1 | RCV002838161; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949260 | 90949260 | | | NC_000008.10:g.90949260A>C | - | | |
NM_002485.5(NBN):c.2227C>A (p.Leu743Ile) | 4683 | NBN | Uncertain significance | 894189734 | RCV001877138; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949261 | 90949261 | | | 90949261 | - | | |
NM_002485.5(NBN):c.2227C>T (p.Leu743Phe) | 4683 | NBN | Uncertain significance | 894189734 | RCV001945390; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949261 | 90949261 | | | 90949261 | - | | |
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu) | 4683 | NBN | Uncertain significance | 767523514 | RCV000216943|RCV000541325|RCV001527001; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90949262 | 90949262 | | | 8:g.90949262A>T | ClinGen:CA4802584 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu) | 4683 | NBN | Uncertain significance | 767523514 | RCV000553933|RCV000566491|RCV003476252; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90949262 | 90949262 | | | NC_000008.10:g.90949262A>C | ClinGen:CA371674753 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2221GAT[1] (p.Asp742del) | 4683 | NBN | Uncertain significance | 1421967400 | RCV002008665; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949262 | 90949264 | | | 90949261 | - | | |
NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr) | 4683 | NBN | Uncertain significance | 746479577 | RCV000702271|RCV001014850|RCV001174569; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90949264 | 90949264 | | | 8:g.90949264C>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2221G>A (p.Asp741Asn) | 4683 | NBN | Uncertain significance | 1586024237 | RCV000811175; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949267 | 90949267 | | | 8:g.90949267C>T | - | | |
NM_002485.5(NBN):c.2220T>C (p.Ala740=) | 4683 | NBN | Benign/Likely benign | 147494981 | RCV000123214|RCV000160776|RCV000212759|RCV001356321; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90949268 | 90949268 | | | 8:g.90949268A>G | ClinGen:CA299587 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2219C>T (p.Ala740Val) | 4683 | NBN | Uncertain significance | 1554554240 | RCV000670155; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949269 | 90949269 | | | 8:g.90949269G>A | ClinGen:CA371674767 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2219C>A (p.Ala740Asp) | 4683 | NBN | Uncertain significance | 1554554240 | RCV002009723; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949269 | 90949269 | | | 90949269 | - | | |
NM_002485.5(NBN):c.2217T>C (p.Leu739=) | 4683 | NBN | Likely benign | 760207156 | RCV000444912|RCV001400012|RCV002418328; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90949271 | 90949271 | | | 8:g.90949271A>G | ClinGen:CA4802585 | CN169374 not specified; | |
NM_002485.5(NBN):c.2215_2216del (p.Leu739fs) | 4683 | NBN | Uncertain significance | 1809723362 | RCV001309554; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949272 | 90949273 | | | 90949271 | - | | |
NM_002485.5(NBN):c.2216T>C (p.Leu739Pro) | 4683 | NBN | Uncertain significance | 2130739195 | RCV001872072; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949272 | 90949272 | | | 90949272 | - | | |
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) | 4683 | NBN | Uncertain significance | 370058152 | RCV000160797|RCV000168129|RCV000590749|RCV000764782; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MON | 8 | 90949273 | 90949273 | | | NC_000008.10:g.90949273G>C | ClinGen:CA299639 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2213C>T (p.Ser738Phe) | 4683 | NBN | Uncertain significance | 876659097 | RCV000214956|RCV000759174|RCV001800553; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949275 | 90949275 | | | 8:g.90949275G>A | ClinGen:CA10578741 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2211G>T (p.Glu737Asp) | 4683 | NBN | Uncertain significance | 753596803 | RCV000220264|RCV001303812; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949277 | 90949277 | | | 8:g.90949277C>A | ClinGen:CA10578742 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2211G>A (p.Glu737=) | 4683 | NBN | Likely benign | 753596803 | RCV002146763|RCV002427650; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90949277 | 90949277 | | | 90949277 | - | | |
NM_002485.5(NBN):c.2210A>T (p.Glu737Val) | 4683 | NBN | Uncertain significance | 1554554247 | RCV000529007|RCV001014801|RCV003470740; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90949278 | 90949278 | | | NC_000008.10:g.90949278T>A | ClinGen:CA371674784 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2205AGA[1] (p.Glu737del) | 4683 | NBN | Uncertain significance | 1554554251 | RCV000665934|RCV000773336; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90949278 | 90949280 | | | 8:g.90949278_90949280del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2204_2208del (p.Lys735fs) | 4683 | NBN | Uncertain significance | 2130739278 | RCV002045519; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949280 | 90949284 | | | 90949279 | - | | |
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter) | 4683 | NBN | Uncertain significance | 756831345 | RCV000665016|RCV001014726|RCV003163056; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 | 8 | 90949282 | 90949282 | | | 8:g.90949282C>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2206del (p.Glu736fs) | 4683 | NBN | Uncertain significance | 1809724889 | RCV001343582; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949282 | 90949282 | | | 8:g.90949282_90949282del | - | | |
NM_002485.5(NBN):c.2206G>C (p.Glu736Gln) | 4683 | NBN | Uncertain significance | 756831345 | RCV001323041|RCV003346350; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90949282 | 90949282 | | | 8:g.90949282C>G | - | | |
NM_002485.5(NBN):c.2202A>G (p.Ala734=) | 4683 | NBN | Benign/Likely benign | 200452212 | RCV000123213|RCV000160775|RCV000212757|RCV001086589; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949286 | 90949286 | | | 8:g.90949286T>C | ClinGen:CA299584 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2201C>T (p.Ala734Val) | 4683 | NBN | Uncertain significance | 751824753 | RCV000570498|RCV001529445|RCV001800788; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949287 | 90949287 | | | NC_000008.10:g.90949287G>A | ClinGen:CA4802588 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2201C>G (p.Ala734Gly) | 4683 | NBN | Uncertain significance | -1 | RCV002890883|RCV003167894; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90949287 | 90949287 | | | NC_000008.10:g.90949287G>C | - | | |
NM_002485.5(NBN):c.2198A>G (p.His733Arg) | 4683 | NBN | Uncertain significance | 998714046 | RCV000636756|RCV000985874|RCV001014745|RCV003465394; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90949290 | 90949290 | | | 8:g.90949290T>C | ClinGen:CA181268780 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2197C>G (p.His733Asp) | 4683 | NBN | Uncertain significance | 1311278427 | RCV000771688|RCV001059710; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949291 | 90949291 | | | NC_000008.10:g.90949291G>C | - | | |
NM_002485.5(NBN):c.2196A>G (p.Gln732=) | 4683 | NBN | Benign/Likely benign | 587780780 | RCV000160774|RCV000212756|RCV000586710|RCV001083624|RCV001355782; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90949292 | 90949292 | | | 8:g.90949292T>C | ClinGen:CA299581 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554554265 | RCV000552881|RCV002431579; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90949294 | 90949294 | | | NC_000008.10:g.90949294G>A | ClinGen:CA371674821 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr) | 4683 | NBN | Uncertain significance | 369649307 | RCV000115789|RCV000775375|RCV001049269; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949297 | 90949297 | | | 8:g.90949297T>A | ClinGen:CA287922 | CN169374 not specified; | |
NM_002485.5(NBN):c.2190A>G (p.Gln730=) | 4683 | NBN | Likely benign | 786203112 | RCV000166274|RCV000607458|RCV000937582; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949298 | 90949298 | | | 8:g.90949298T>C | ClinGen:CA195427 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2188C>T (p.Gln730Ter) | 4683 | NBN | Pathogenic | 1554554267 | RCV000636698; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949300 | 90949300 | | | NC_000008.10:g.90949300G>A | ClinGen:CA371674836 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2188C>A (p.Gln730Lys) | 4683 | NBN | Uncertain significance | 1554554267 | RCV002010009; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949300 | 90949300 | | | 90949300 | - | | |
NM_002485.5(NBN):c.2187dup (p.Gln730fs) | 4683 | NBN | Likely pathogenic | 2130739402 | RCV001986072; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949300 | 90949301 | | | 90949300 | - | | |
NM_002485.5(NBN):c.2186T>C (p.Val729Ala) | 4683 | NBN | Uncertain significance | 1809726528 | RCV001213273; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949302 | 90949302 | | | 8:g.90949302A>G | - | | |
NM_002485.5(NBN):c.2185-1G>A | 4683 | NBN | Likely pathogenic | 1057517262 | RCV000409942|RCV001014719|RCV003470351; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90949304 | 90949304 | | | NC_000008.10:g.90949304C>T | ClinGen:CA16041200 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2185-3C>T | 4683 | NBN | Uncertain significance | 1809726732 | RCV001321760|RCV003469548; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90949306 | 90949306 | | | 90949306 | - | | |
NM_002485.5(NBN):c.2185-20_2185-4del | 4683 | NBN | Uncertain significance | 2130739432 | RCV001370186; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949307 | 90949323 | | | 90949306 | - | | |
NM_002485.5(NBN):c.2185-7T>C | 4683 | NBN | Likely benign | 1563497932 | RCV001464753; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949310 | 90949310 | | | NC_000008.10:g.90949310A>G | - | | |
NM_002485.5(NBN):c.2185-7T>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 1563497932 | RCV001428981; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949310 | 90949310 | | | 8:g.90949310A>C | - | | |
NM_002485.5(NBN):c.2185-12T>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 373516568 | RCV002099636|RCV002258359; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90949315 | 90949315 | | | 90949315 | - | | |
NM_002485.5(NBN):c.2185-13T>C | 4683 | NBN | Likely benign | 1285279553 | RCV002177411; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949316 | 90949316 | | | 90949316 | - | | |
NM_002485.5(NBN):c.2185-14G>C | 4683 | NBN | Likely benign | 2130739480 | RCV002178162; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949317 | 90949317 | | | 90949317 | - | | |
NM_002485.5(NBN):c.2185-16A>G | 4683 | NBN | Likely benign | -1 | RCV002607279; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949319 | 90949319 | | | NC_000008.10:g.90949319T>C | - | | |
NM_002485.5(NBN):c.2185-17T>C | 4683 | NBN | Likely benign | -1 | RCV003046247; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90949320 | 90949320 | | | NC_000008.10:g.90949320A>G | - | | |
NM_002485.5(NBN):c.2184+123G>A | 4683 | NBN | Benign | 7840099 | RCV001532828|RCV001655815; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90955358 | 90955358 | | | 90955358 | - | | |
NM_002485.5(NBN):c.2184+19C>G | 4683 | NBN | Likely benign | 1007353959 | RCV002197417; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955462 | 90955462 | | | 90955462 | - | | |
NM_002485.5(NBN):c.2184+19C>T | 4683 | NBN | Likely benign | 1007353959 | RCV002135372; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955462 | 90955462 | | | 90955462 | - | | |
NM_002485.5(NBN):c.2184+19C>A | 4683 | NBN | Likely benign | -1 | RCV002631272; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955462 | 90955462 | | | NC_000008.10:g.90955462G>T | - | | |
NM_002485.5(NBN):c.2184+18C>G | 4683 | NBN | Likely benign | -1 | RCV002628757; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955463 | 90955463 | | | NC_000008.10:g.90955463G>C | - | | |
NM_002485.5(NBN):c.2184+16G>A | 4683 | NBN | Likely benign | -1 | RCV002611439; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955465 | 90955465 | | | NC_000008.10:g.90955465C>T | - | | |
NM_002485.5(NBN):c.2184+13T>A | 4683 | NBN | Likely benign | 1341774597 | RCV001416044; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955468 | 90955468 | | | 90955468 | - | | |
NM_002485.5(NBN):c.2184+12G>A | 4683 | NBN | Likely benign | 1402547304 | RCV002174769; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955469 | 90955469 | | | 90955469 | - | | |
NC_000008.10:g.(?_90955471)_(90983528_?)dup | 4683 | NBN | Likely pathogenic | -1 | RCV000708422; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955471 | 90983528 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.10:g.(?_90955471)_(90976745_?)del | 4683 | NBN | Pathogenic | -1 | RCV001385273; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955471 | 90976745 | | | -1 | - | | |
NC_000008.10:g.(?_90955471)_(90958533_?)del | 4683 | NBN | Likely pathogenic | -1 | RCV003107697; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955471 | 90958533 | | | | - | | |
NC_000008.10:g.(?_90955471)_(90996789_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV003107700; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955471 | 90996789 | | | | - | | |
NM_002485.5(NBN):c.2184+9G>T | 4683 | NBN | Uncertain significance | -1 | RCV003030861; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955472 | 90955472 | | | NC_000008.10:g.90955472C>A | - | | |
NM_002485.5(NBN):c.2184+8G>C | 4683 | NBN | Likely benign | 730881842 | RCV000160773|RCV000196142; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955473 | 90955473 | | | NC_000008.10:g.90955473C>G | ClinGen:CA299580 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2184+8G>A | 4683 | NBN | Likely benign | 730881842 | RCV001495561; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955473 | 90955473 | | | 90955473 | - | | |
NM_002485.5(NBN):c.2184+7A>G | 4683 | NBN | Likely benign | 200812782 | RCV000204237; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955474 | 90955474 | | | 8:g.90955474T>C | ClinGen:CA348483 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2184+6T>A | 4683 | NBN | Uncertain significance | 1810029317 | RCV001209705; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955475 | 90955475 | | | 8:g.90955475A>T | - | | |
NM_002485.5(NBN):c.2184+5G>A | 4683 | NBN | Uncertain significance | 1563507830 | RCV000707452; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955476 | 90955476 | | | NC_000008.10:g.90955476C>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2071-1175_2184+2del | 4683 | NBN | Likely pathogenic | -1 | RCV001357927; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955479 | 90956769 | | | 90955478 | - | | |
NM_002485.5(NBN):c.2184+2T>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 75823099 | RCV001379405|RCV002432064; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955479 | 90955479 | | | 90955479 | - | | |
NM_002485.5(NBN):c.2184+2T>A | 4683 | NBN | Likely pathogenic | 75823099 | RCV001379478; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955479 | 90955479 | | | 90955479 | - | | |
NM_002485.5(NBN):c.2184+1G>T | 4683 | NBN | Conflicting interpretations of pathogenicity | 756363734 | RCV000222999|RCV000411514|RCV000478822|RCV003469077; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90955480 | 90955480 | | | 8:g.90955480C>A | ClinGen:CA10578743 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2184+1G>A | 4683 | NBN | Likely pathogenic | 756363734 | RCV000569113|RCV000822720; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955480 | 90955480 | | | 8:g.90955480C>T | ClinGen:CA181273259 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.4(NBN):c.897-?_2184+?del | 4683 | NBN | Pathogenic | -1 | RCV000199420; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955481 | 90976735 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2184G>A (p.Glu728=) | 4683 | NBN | Uncertain significance | 1586034964 | RCV000815934|RCV002259027; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955481 | 90955481 | | | 8:g.90955481C>T | - | | |
NM_002485.5(NBN):c.2184G>C (p.Glu728Asp) | 4683 | NBN | Uncertain significance | 1586034964 | RCV001233607; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955481 | 90955481 | | | 8:g.90955481C>G | - | | |
NM_002485.5(NBN):c.2183A>T (p.Glu728Val) | 4683 | NBN | Uncertain significance | 1060503487 | RCV000469108; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955482 | 90955482 | | | NC_000008.10:g.90955482T>A | ClinGen:CA16612355 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2181G>A (p.Met727Ile) | 4683 | NBN | Uncertain significance | 1586034984 | RCV000793368; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955484 | 90955484 | | | 8:g.90955484C>T | - | | |
NM_002485.5(NBN):c.2179A>G (p.Met727Val) | 4683 | NBN | Uncertain significance | 1554555732 | RCV000563873|RCV001858119; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955486 | 90955486 | | | 8:g.90955486T>C | ClinGen:CA371675275 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2177A>C (p.Glu726Ala) | 4683 | NBN | Uncertain significance | 1554555736 | RCV000539958; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955488 | 90955488 | | | NC_000008.10:g.90955488T>G | ClinGen:CA371675287 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2177A>G (p.Glu726Gly) | 4683 | NBN | Uncertain significance | 1554555736 | RCV001315344|RCV002431894; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955488 | 90955488 | | | 90955488 | - | | |
NM_002485.5(NBN):c.2176G>A (p.Glu726Lys) | 4683 | NBN | Uncertain significance | 1421870412 | RCV001014641|RCV001307900; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955489 | 90955489 | | | 8:g.90955489C>T | - | | |
NM_002485.5(NBN):c.2174A>C (p.Gln725Pro) | 4683 | NBN | Uncertain significance | 878854510 | RCV000234128|RCV001014678; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955491 | 90955491 | | | NC_000008.10:g.90955491T>G | ClinGen:CA10582591 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2174A>G (p.Gln725Arg) | 4683 | NBN | Uncertain significance | 878854510 | RCV001186738|RCV001212875; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955491 | 90955491 | | | 8:g.90955491T>C | - | | |
NM_002485.5(NBN):c.2173C>T (p.Gln725Ter) | 4683 | NBN | Pathogenic | 1810030774 | RCV001071287; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955492 | 90955492 | | | 8:g.90955492G>A | - | | |
NM_002485.5(NBN):c.2172_2173delinsTT (p.Arg724_Gln725delinsSerTer) | 4683 | NBN | Pathogenic | 2130755275 | RCV001380696; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955492 | 90955493 | | | 90955492 | - | | |
NM_002485.5(NBN):c.2173del (p.Gln725fs) | 4683 | NBN | Likely pathogenic | 2130755261 | RCV001990475; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955492 | 90955492 | | | 90955491 | - | | |
NM_002485.5(NBN):c.2172G>A (p.Arg724=) | 4683 | NBN | Likely benign | 1057523944 | RCV000561590|RCV001395580|RCV001698352; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90955493 | 90955493 | | | 8:g.90955493C>T | ClinGen:CA16605508 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2170A>G (p.Arg724Gly) | 4683 | NBN | Uncertain significance | 1586035037 | RCV001014666|RCV003117692; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955495 | 90955495 | | | 8:g.90955495T>C | - | | |
NM_002485.5(NBN):c.2167C>A (p.Leu723Ile) | 4683 | NBN | Uncertain significance | 759888769 | RCV001856114; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955498 | 90955498 | | | NC_000008.10:g.90955498G>T | - | | |
NM_002485.5(NBN):c.2167C>G (p.Leu723Val) | 4683 | NBN | Uncertain significance | 759888769 | RCV001210140|RCV002429891; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955498 | 90955498 | | | 8:g.90955498G>C | - | | |
NM_002485.5(NBN):c.2166G>T (p.Trp722Cys) | 4683 | NBN | Uncertain significance | 1810031465 | RCV001349925; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955499 | 90955499 | | | 90955499 | - | | |
NM_002485.5(NBN):c.2165G>A (p.Trp722Ter) | 4683 | NBN | Pathogenic | 786204181 | RCV000168229; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955500 | 90955500 | | | 8:g.90955500C>T | ClinGen:CA334459 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2165G>C (p.Trp722Ser) | 4683 | NBN | Uncertain significance | 786204181 | RCV000805582|RCV001014662|RCV001766677; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90955500 | 90955500 | | | 8:g.90955500C>G | - | | |
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly) | 4683 | NBN | Uncertain significance | 1554555748 | RCV000564002|RCV001235751; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955501 | 90955501 | | | 8:g.90955501A>C | ClinGen:CA371675343 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2164T>A (p.Trp722Arg) | 4683 | NBN | Uncertain significance | 1554555748 | RCV001908909; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955501 | 90955501 | | | 90955501 | - | | |
NM_002485.5(NBN):c.2162A>T (p.Glu721Val) | 4683 | NBN | Uncertain significance | 1554555751 | RCV000527358; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955503 | 90955503 | | | 8:g.90955503T>A | ClinGen:CA371675355 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1064795816 | RCV000486706|RCV000573618|RCV001383121|RCV003470579; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90955504 | 90955504 | | | 8:g.90955504C>A | ClinGen:CA16618697 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2161G>C (p.Glu721Gln) | 4683 | NBN | Uncertain significance | 1064795816 | RCV001233494|RCV002256715; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955504 | 90955504 | | | 8:g.90955504C>G | - | | |
NM_002485.5(NBN):c.2160A>C (p.Glu720Asp) | 4683 | NBN | Uncertain significance | 1810032277 | RCV001066917; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955505 | 90955505 | | | 8:g.90955505T>G | - | | |
NM_002485.5(NBN):c.2160A>G (p.Glu720=) | 4683 | NBN | Likely benign | -1 | RCV003020989; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955505 | 90955505 | | | | - | | |
NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup) | 4683 | NBN | Uncertain significance | 864622241 | RCV000206749|RCV000775377|RCV003231404; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90955507 | 90955508 | | | 8:g.90955507_90955508insTAG | ClinGen:CA350756 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2158G>A (p.Glu720Lys) | 4683 | NBN | Uncertain significance | 876660294 | RCV000223177|RCV001297564; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955507 | 90955507 | | | 8:g.90955507C>T | ClinGen:CA10578744 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2158G>C (p.Glu720Gln) | 4683 | NBN | Uncertain significance | 876660294 | RCV001014622|RCV001860770; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955507 | 90955507 | | | 8:g.90955507C>G | - | | |
NM_002485.5(NBN):c.2156dup (p.Glu720fs) | 4683 | NBN | Likely pathogenic | 1586035111 | RCV000808618; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955508 | 90955509 | | | 8:g.90955508_90955509insA | - | | |
NM_002485.5(NBN):c.2150_2157del (p.Thr717fs) | 4683 | NBN | Likely pathogenic | 2130755422 | RCV002033213; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955508 | 90955515 | | | 90955507 | - | | |
NM_002485.5(NBN):c.2155C>G (p.Leu719Val) | 4683 | NBN | Uncertain significance | 1563508063 | RCV001869091; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955510 | 90955510 | | | NC_000008.10:g.90955510G>C | - | | |
NM_002485.5(NBN):c.2154_2155insGGAA (p.Leu719fs) | 4683 | NBN | Likely pathogenic | 2130755457 | RCV002023938; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955510 | 90955511 | | | 90955510 | - | | |
NM_002485.5(NBN):c.2154A>G (p.Glu718=) | 4683 | NBN | Likely benign | 2130755446 | RCV002177821; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955511 | 90955511 | | | 90955511 | - | | |
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter) | 4683 | NBN | Pathogenic | -1 | RCV003089653|RCV003161760; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955513 | 90955513 | | | NC_000008.10:g.90955513C>A | - | | |
NM_002485.5(NBN):c.2152del (p.Glu718fs) | 4683 | NBN | Pathogenic | -1 | RCV003015710; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955513 | 90955513 | | | NC_000008.10:g.90955513del | - | | |
NM_002485.5(NBN):c.2151A>G (p.Thr717=) | 4683 | NBN | Likely benign | 760687282 | RCV000218205|RCV000636788|RCV001722193; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90955514 | 90955514 | | | 8:g.90955514T>C | ClinGen:CA4802598 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile) | 4683 | NBN | Uncertain significance | 1554555764 | RCV000551501|RCV000583856; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955515 | 90955515 | | | NC_000008.10:g.90955515G>A | ClinGen:CA371675415 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) | 4683 | NBN | Uncertain significance | 587780093 | RCV000115788|RCV000212755|RCV000515194|RCV000534044|RCV000780522; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90955516 | 90955516 | | | 8:g.90955516T>A | ClinGen:CA287919 | C0023449 613065 Acute lymphoid leukemia; | |
NM_002485.5(NBN):c.2145_2147delinsT (p.Lys715fs) | 4683 | NBN | Pathogenic | 1810033651 | RCV001246652; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955518 | 90955520 | | | 8:g.90955519_90955520del | - | | |
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) | 4683 | NBN | Benign/Likely benign | 72563785 | RCV000121615|RCV000128986|RCV000168432|RCV000589914|RCV002225384|RCV002498572; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|MONDO:MONDO:0009623,MedGen:C03987 | 8 | 90955519 | 90955519 | | | 8:g.90955519T>C | ClinGen:CA160972 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2144dup (p.Asn716fs) | 4683 | NBN | Likely pathogenic | 1810033982 | RCV001242070; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955520 | 90955521 | | | 8:g.90955520_90955521insT | - | | |
NM_002485.5(NBN):c.2144A>G (p.Lys715Arg) | 4683 | NBN | Uncertain significance | -1 | RCV002301998|RCV002427765; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955521 | 90955521 | | | 90955521 | - | | |
NM_002485.5(NBN):c.2140_2143del (p.Lys715fs) | 4683 | NBN | Pathogenic | 1810034093 | RCV001066631; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955522 | 90955525 | | | 8:g.90955522_90955525del | - | | |
NM_002485.5(NBN):c.2143A>C (p.Lys715Gln) | 4683 | NBN | Uncertain significance | 2130755556 | RCV001893256; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955522 | 90955522 | | | 90955522 | - | | |
NM_002485.5(NBN):c.2141_2142del (p.Arg714fs) | 4683 | NBN | Likely pathogenic | 2130755572 | RCV001377443; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955523 | 90955524 | | | 90955522 | - | | |
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln) | 4683 | NBN | Uncertain significance | 753270166 | RCV000526011|RCV000569966|RCV001561929|RCV003470739; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90955524 | 90955524 | | | NC_000008.10:g.90955524C>T | ClinGen:CA4802599 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2119_2141del (p.Asp707fs) | 4683 | NBN | Likely pathogenic | 1554555782 | RCV000636703; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955524 | 90955546 | | | NC_000008.10:g.90955524_90955546del | ClinGen:CA658797126 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2141G>C (p.Arg714Pro) | 4683 | NBN | Uncertain significance | 753270166 | RCV002026705; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955524 | 90955524 | | | 90955524 | - | | |
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 730881864 | RCV000160804|RCV000204431|RCV000215628|RCV000515171|RCV003467267; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90955525 | 90955525 | | | NC_000008.10:g.90955525G>A | ClinGen:CA299657 | C0023449 613065 Acute lymphoid leukemia; | |
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) | 4683 | NBN | Conflicting interpretations of pathogenicity | 730881864 | RCV000575176|RCV000636782|RCV001584370; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90955525 | 90955525 | | | 8:g.90955525G>C | ClinGen:CA4802601 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2140del (p.Arg714fs) | 4683 | NBN | Pathogenic | 1810034741 | RCV001041492; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955525 | 90955525 | | | 8:g.90955525_90955525del | - | | |
NM_002485.5(NBN):c.2139T>C (p.Ala713=) | 4683 | NBN | Likely benign | 755274971 | RCV000163443|RCV000759173|RCV001083050; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955526 | 90955526 | | | 8:g.90955526A>G | ClinGen:CA188300 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2138C>G (p.Ala713Gly) | 4683 | NBN | Uncertain significance | 986903713 | RCV000470877|RCV000563097; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955527 | 90955527 | | | NC_000008.10:g.90955527G>C | ClinGen:CA16612646 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2138C>A (p.Ala713Asp) | 4683 | NBN | Uncertain significance | 986903713 | RCV001364944; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955527 | 90955527 | | | 90955527 | - | | |
NM_002485.5(NBN):c.2131CAT[1] (p.His712del) | 4683 | NBN | Uncertain significance | 786204096 | RCV000168012|RCV000575158; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955529 | 90955531 | | | 8:g.90955529_90955531del | ClinGen:CA334142 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2136T>C (p.His712=) | 4683 | NBN | Likely benign | 1429343146 | RCV000781638|RCV001014473|RCV001441752; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955529 | 90955529 | | | NC_000008.10:g.90955529A>G | - | | |
NM_002485.5(NBN):c.2135A>G (p.His712Arg) | 4683 | NBN | Uncertain significance | 1361799559 | RCV001224421|RCV002418780; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955530 | 90955530 | | | 8:g.90955530T>C | - | | |
NM_002485.5(NBN):c.2134C>A (p.His712Asn) | 4683 | NBN | Uncertain significance | 781520763 | RCV000165937|RCV001241624|RCV003441764; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90955531 | 90955531 | | | 8:g.90955531G>T | ClinGen:CA194574 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2134C>T (p.His712Tyr) | 4683 | NBN | Uncertain significance | 781520763 | RCV001040397|RCV001284193|RCV002416346|RCV003155342; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90955531 | 90955531 | | | 8:g.90955531G>A | - | | |
NM_002485.5(NBN):c.2132_2133del (p.His711fs) | 4683 | NBN | Likely pathogenic | 2130755717 | RCV002012848; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955532 | 90955533 | | | 90955531 | - | | |
NM_002485.5(NBN):c.2133T>C (p.His711=) | 4683 | NBN | Likely benign | 2130755705 | RCV002162031|RCV002423301; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955532 | 90955532 | | | 90955532 | - | | |
NM_002485.5(NBN):c.2132A>T (p.His711Leu) | 4683 | NBN | Uncertain significance | 1810035825 | RCV001040396|RCV001284192|RCV003155341; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN517202|MedGen:CN169374 | 8 | 90955533 | 90955533 | | | 8:g.90955533T>A | - | | |
NM_002485.5(NBN):c.2128_2132del (p.Ala710fs) | 4683 | NBN | Likely pathogenic | 2130755743 | RCV001378053; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955533 | 90955537 | | | 90955532 | - | | |
NM_002485.5(NBN):c.2131C>T (p.His711Tyr) | 4683 | NBN | Uncertain significance | 780333168 | RCV000701361|RCV001014560; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955534 | 90955534 | | | NC_000008.10:g.90955534G>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2129C>T (p.Ala710Val) | 4683 | NBN | Uncertain significance | 1060503454 | RCV000475083|RCV000564631|RCV002248691; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90955536 | 90955536 | | | NC_000008.10:g.90955536G>A | ClinGen:CA16612647 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554555808 | RCV000568915|RCV000704836; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955537 | 90955537 | | | 8:g.90955537C>G | ClinGen:CA371675559 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2120_2128del (p.Asp707_Ile709del) | 4683 | NBN | Uncertain significance | 1563508381 | RCV000688159|RCV001014517; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955537 | 90955545 | | | NC_000008.10:g.90955539_90955547del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2127dup (p.Ala710fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002810693; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955537 | 90955538 | | | NC_000008.10:g.90955538dup | - | | |
NM_002485.5(NBN):c.2125_2127delinsCTG (p.Ile709Leu) | 4683 | NBN | Uncertain significance | 1586035313 | RCV001014538|RCV002549405; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955538 | 90955540 | | | NC_000008.10:g.90955538_90955540delinsCAG | - | | |
NM_002485.5(NBN):c.2122C>T (p.Leu708=) | 4683 | NBN | Likely benign | 756580887 | RCV000425216|RCV001014525|RCV002058993; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955543 | 90955543 | | | 8:g.90955543G>A | ClinGen:CA16605267 | CN169374 not specified; | |
NM_002485.5(NBN):c.2122C>G (p.Leu708Val) | 4683 | NBN | Uncertain significance | 756580887 | RCV001246959|RCV002418849; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955543 | 90955543 | | | 8:g.90955543G>C | - | | |
NM_002485.5(NBN):c.2121T>A (p.Asp707Glu) | 4683 | NBN | Uncertain significance | -1 | RCV002760939; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955544 | 90955544 | | | NC_000008.10:g.90955544A>T | - | | |
NM_002485.5(NBN):c.2118A>C (p.Ser706=) | 4683 | NBN | Likely benign | 2130755820 | RCV001489404; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955547 | 90955547 | | | 90955547 | - | | |
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 730881857 | RCV000160795|RCV000212754|RCV000409031|RCV001535781|RCV003407597|RCV003467263; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142; MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647||Human Phenoty | 8 | 90955548 | 90955548 | | | NC_000008.10:g.90955548G>C | ClinGen:CA299633 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2115A>G (p.Gly705=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1173178388 | RCV000636777|RCV002420713; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955550 | 90955550 | | | NC_000008.10:g.90955550T>C | ClinGen:CA461837526 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2114G>A (p.Gly705Glu) | 4683 | NBN | Uncertain significance | 1810037139 | RCV001062356; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955551 | 90955551 | | | 8:g.90955551C>T | - | | |
NM_002485.5(NBN):c.2110G>A (p.Gly704Arg) | 4683 | NBN | Uncertain significance | 1810037245 | RCV001886701; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955555 | 90955555 | | | 90955555 | - | | |
NM_002485.5(NBN):c.2108T>C (p.Ile703Thr) | 4683 | NBN | Uncertain significance | 1554555819 | RCV000550160|RCV003278886; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955557 | 90955557 | | | NC_000008.10:g.90955557A>G | ClinGen:CA371675685 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2108T>G (p.Ile703Ser) | 4683 | NBN | Uncertain significance | -1 | RCV003015173; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955557 | 90955557 | | | NC_000008.10:g.90955557A>C | - | | |
NM_002485.5(NBN):c.2107A>G (p.Ile703Val) | 4683 | NBN | Uncertain significance | 942302974 | RCV001920303; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955558 | 90955558 | | | 90955558 | - | | |
NM_002485.5(NBN):c.2106C>A (p.Ile702=) | 4683 | NBN | Likely benign | 1398694666 | RCV001426547; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955559 | 90955559 | | | 8:g.90955559G>T | - | | |
NM_002485.5(NBN):c.2106C>T (p.Ile702=) | 4683 | NBN | Likely benign | 1398694666 | RCV001391878; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955559 | 90955559 | | | 8:g.90955559G>A | - | | |
NM_002485.5(NBN):c.2103C>T (p.His701=) | 4683 | NBN | Likely benign | 753991062 | RCV000537535|RCV000775378; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955562 | 90955562 | | | NC_000008.10:g.90955562G>A | ClinGen:CA181273322 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2102del (p.His701fs) | 4683 | NBN | Pathogenic | 1810038215 | RCV001051769; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955563 | 90955563 | | | 8:g.90955563_90955563del | - | | |
NM_002485.5(NBN):c.2101C>T (p.His701Tyr) | 4683 | NBN | Uncertain significance | 587781567 | RCV000129592|RCV001826793|RCV003467113|RCV003398758; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88| | 8 | 90955564 | 90955564 | | | 8:g.90955564G>A | ClinGen:CA164739 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2100A>G (p.Pro700=) | 4683 | NBN | Likely benign | 2130756024 | RCV001472983; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955565 | 90955565 | | | 90955565 | - | | |
NM_002485.5(NBN):c.2099C>T (p.Pro700Leu) | 4683 | NBN | Uncertain significance | 1367898317 | RCV001219087; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955566 | 90955566 | | | 8:g.90955566G>A | - | | |
NM_002485.5(NBN):c.2099del (p.Pro700fs) | 4683 | NBN | Pathogenic | 1301956720 | RCV001239340; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955566 | 90955566 | | | 8:g.90955566_90955566del | - | | |
NM_002485.5(NBN):c.2099C>G (p.Pro700Arg) | 4683 | NBN | Uncertain significance | 1367898317 | RCV001972008|RCV002423085|RCV003475185; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90955566 | 90955566 | | | 90955566 | - | | |
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr) | 4683 | NBN | Uncertain significance | 1060503461 | RCV000464532|RCV000562388|RCV001821291; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90955567 | 90955567 | | | NC_000008.10:g.90955567G>T | ClinGen:CA16612356 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2097_2098del (p.Pro700fs) | 4683 | NBN | Conflicting interpretations of pathogenicity | 2130756068 | RCV001378945|RCV002420855; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955567 | 90955568 | | | 90955566 | - | | |
NM_002485.5(NBN):c.2097dup (p.Pro700fs) | 4683 | NBN | Pathogenic | -1 | RCV003062170; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955567 | 90955568 | | | NC_000008.10:g.90955569dup | - | | |
NM_002485.5(NBN):c.2097T>C (p.Leu699=) | 4683 | NBN | Likely benign | 1810038889 | RCV002067913; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955568 | 90955568 | | | 8:g.90955568A>G | - | | |
NM_002485.5(NBN):c.2096T>C (p.Leu699Pro) | 4683 | NBN | Uncertain significance | 1810039016 | RCV001034830; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955569 | 90955569 | | | 8:g.90955569A>G | - | | |
NM_002485.5(NBN):c.2094A>G (p.Lys698=) | 4683 | NBN | Likely benign | 878854509 | RCV002057239; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955571 | 90955571 | | | 8:g.90955571T>C | ClinGen:CA10582592 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2091A>T (p.Gly697=) | 4683 | NBN | Likely benign | -1 | RCV002877104; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955574 | 90955574 | | | | - | | |
NM_002485.5(NBN):c.2090G>A (p.Gly697Glu) | 4683 | NBN | Uncertain significance | -1 | RCV003020834; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955575 | 90955575 | | | NC_000008.10:g.90955575C>T | - | | |
NM_002485.5(NBN):c.2089G>T (p.Gly697Ter) | 4683 | NBN | Pathogenic | 1038132485 | RCV001387991; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955576 | 90955576 | | | 90955576 | - | | |
NM_002485.5(NBN):c.2087C>T (p.Ala696Val) | 4683 | NBN | Uncertain significance | 1462278909 | RCV000685451|RCV000773958; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955578 | 90955578 | | | NC_000008.10:g.90955578G>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2086G>A (p.Ala696Thr) | 4683 | NBN | Uncertain significance | 749276965 | RCV000805300|RCV002422757; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955579 | 90955579 | | | 8:g.90955579C>T | - | | |
NM_002485.5(NBN):c.2086G>T (p.Ala696Ser) | 4683 | NBN | Uncertain significance | 749276965 | RCV001014382|RCV001243253; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955579 | 90955579 | | | 8:g.90955579C>A | - | | |
NM_002485.5(NBN):c.2085A>G (p.Gly695=) | 4683 | NBN | Likely benign | 2130756163 | RCV001432924; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955580 | 90955580 | | | 90955580 | - | | |
NM_002485.5(NBN):c.2084G>A (p.Gly695Glu) | 4683 | NBN | Uncertain significance | 1554555834 | RCV000564238|RCV001307872; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955581 | 90955581 | | | NC_000008.10:g.90955581C>T | ClinGen:CA371675849 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2083G>T (p.Gly695Ter) | 4683 | NBN | Pathogenic | 1554555835 | RCV000556515; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955582 | 90955582 | | | NC_000008.10:g.90955582C>A | ClinGen:CA371675852 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2083G>A (p.Gly695Arg) | 4683 | NBN | Uncertain significance | 1554555835 | RCV001217920|RCV001773488; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN517202 | 8 | 90955582 | 90955582 | | | 8:g.90955582C>T | - | | |
NM_002485.5(NBN):c.2082T>G (p.Pro694=) | 4683 | NBN | Benign | 7823648 | RCV000128893|RCV000350955|RCV000507423|RCV001705925|RCV002225416|RCV003315861; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:00048 | 8 | 90955583 | 90955583 | | | 8:g.90955583A>C | ClinGen:CA163518 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2082T>C (p.Pro694=) | 4683 | NBN | Likely benign | 7823648 | RCV000571681|RCV000976411|RCV001356767|RCV001821660; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374 | 8 | 90955583 | 90955583 | | | 8:g.90955583A>G | ClinGen:CA4802605 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2081C>G (p.Pro694Arg) | 4683 | NBN | Uncertain significance | 746090959 | RCV000561103|RCV001059040; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955584 | 90955584 | | | NC_000008.10:g.90955584G>C | ClinGen:CA4802606 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2080C>T (p.Pro694Ser) | 4683 | NBN | Uncertain significance | 1586035536 | RCV000818554; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955585 | 90955585 | | | 8:g.90955585G>A | - | | |
NM_002485.5(NBN):c.2078A>G (p.Tyr693Cys) | 4683 | NBN | Uncertain significance | 1563508706 | RCV000699683|RCV003279018; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955587 | 90955587 | | | NC_000008.10:g.90955587T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2076A>G (p.Thr692=) | 4683 | NBN | Likely benign | 2130756258 | RCV001963629; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955589 | 90955589 | | | 90955589 | - | | |
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile) | 4683 | NBN | Uncertain significance | 1060503474 | RCV000466915|RCV000775743|RCV001755702; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90955590 | 90955590 | | | NC_000008.10:g.90955590G>A | ClinGen:CA16612649 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2073C>T (p.Val691=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 876658178 | RCV000223586|RCV000636790|RCV003330586; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90955592 | 90955592 | | | 8:g.90955592G>A | ClinGen:CA10578745 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2073C>A (p.Val691=) | 4683 | NBN | Likely benign | 876658178 | RCV002134268; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955592 | 90955592 | | | 90955592 | - | | |
NM_002485.5(NBN):c.2072T>G (p.Val691Gly) | 4683 | NBN | Uncertain significance | 1563508748 | RCV000772231|RCV001856011; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955593 | 90955593 | | | NC_000008.10:g.90955593A>C | - | | |
NM_002485.5(NBN):c.2071G>A (p.Val691Ile) | 4683 | NBN | Uncertain significance | 772059959 | RCV000227442|RCV000575268; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90955594 | 90955594 | | | NC_000008.10:g.90955594C>T | ClinGen:CA4802607 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2071G>T (p.Val691Phe) | 4683 | NBN | Uncertain significance | 772059959 | RCV001014294|RCV001315087; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955594 | 90955594 | | | 8:g.90955594C>A | - | | |
NM_002485.5(NBN):c.2071del | 4683 | NBN | Pathogenic/Likely pathogenic | 2130756322 | RCV001993353|RCV003464286; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90955594 | 90955594 | | | | - | | |
NM_002485.5(NBN):c.2071-1G>C | 4683 | NBN | Likely pathogenic | 786201965 | RCV000164521|RCV000409665|RCV000483747|RCV003474861; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90955595 | 90955595 | | | 8:g.90955595C>G | ClinGen:CA191166 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2071-1G>A | 4683 | NBN | Likely pathogenic | 786201965 | RCV000217514|RCV000222103|RCV000543979; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955595 | 90955595 | | | 8:g.90955595C>T | ClinGen:CA10577363 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2071-2A>C | 4683 | NBN | Likely pathogenic | 775397477 | RCV000636778; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955596 | 90955596 | | | NC_000008.10:g.90955596T>G | ClinGen:CA4802608 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2071-2A>G | 4683 | NBN | Likely pathogenic | 775397477 | RCV001378341; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955596 | 90955596 | | | 90955596 | - | | |
NM_002485.5(NBN):c.2071-4A>G | 4683 | NBN | Uncertain significance | 746994234 | RCV000204105|RCV000421866|RCV000563386|RCV001697240; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90955598 | 90955598 | | | 8:g.90955598T>C | ClinGen:CA348356 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2071-4A>T | 4683 | NBN | Conflicting interpretations of pathogenicity | 746994234 | RCV001014289|RCV001800923; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955598 | 90955598 | | | 8:g.90955598T>A | - | | |
NM_002485.5(NBN):c.2071-6C>A | 4683 | NBN | Conflicting interpretations of pathogenicity | 768670249 | RCV001427677; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955600 | 90955600 | | | 90955600 | - | | |
NM_002485.5(NBN):c.2071-8T>C | 4683 | NBN | Likely benign | 1178683426 | RCV000875631; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955602 | 90955602 | | | 8:g.90955602A>G | - | | |
NM_002485.5(NBN):c.2071-12A>G | 4683 | NBN | Likely benign | 2130756398 | RCV002152861; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955606 | 90955606 | | | 90955606 | - | | |
NM_002485.5(NBN):c.2071-13del | 4683 | NBN | Benign | 2130756405 | RCV002187009; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955607 | 90955607 | | | 90955606 | - | | |
NM_002485.5(NBN):c.2071-14T>C | 4683 | NBN | Likely benign | 2130756415 | RCV002185827; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955608 | 90955608 | | | 90955608 | - | | |
NM_002485.5(NBN):c.2071-16T>A | 4683 | NBN | Likely benign | -1 | RCV002802118; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955610 | 90955610 | | | NC_000008.10:g.90955610A>T | - | | |
NM_002485.5(NBN):c.2071-17C>T | 4683 | NBN | Likely benign | 776240552 | RCV002215596; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955611 | 90955611 | | | 90955611 | - | | |
NM_002485.5(NBN):c.2071-18A>G | 4683 | NBN | Likely benign | 2130756448 | RCV002183579; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955612 | 90955612 | | | 90955612 | - | | |
NM_002485.5(NBN):c.2071-20C>G | 4683 | NBN | Likely benign | 2130756452 | RCV002088818; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90955614 | 90955614 | | | 90955614 | - | | |
NM_002485.5(NBN):c.2071-30A>T | 4683 | NBN | Benign | 3736639 | RCV000248307|RCV001532829|RCV001610628|RCV002225563|RCV003316396; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:H | 8 | 90955624 | 90955624 | | | 8:g.90955624T>A | ClinGen:CA4802611 | CN169374 not specified; | |
NM_002485.5(NBN):c.2070+18A>G | 4683 | NBN | Likely benign | 756636190 | RCV000428762|RCV002063389; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958350 | 90958350 | | | 8:g.90958350T>C | ClinGen:CA4802618 | CN169374 not specified; | |
NM_002485.5(NBN):c.2070+16_2070+17del | 4683 | NBN | Likely benign | -1 | RCV002632555; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958351 | 90958352 | | | NC_000008.10:g.90958352_90958353del | - | | |
NM_002485.5(NBN):c.2070+16G>A | 4683 | NBN | Likely benign | 1554556450 | RCV002529269; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958352 | 90958352 | | | 8:g.90958352C>T | ClinGen:CA658683524 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2070+15T>G | 4683 | NBN | Likely benign | 764467759 | RCV000610796|RCV002066685; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958353 | 90958353 | | | 8:g.90958353A>C | ClinGen:CA4802619 | CN169374 not specified; | |
NM_002485.5(NBN):c.2070+15T>C | 4683 | NBN | Likely benign | -1 | RCV002918445; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958353 | 90958353 | | | NC_000008.10:g.90958353A>G | - | | |
NM_002485.5(NBN):c.2070+13A>G | 4683 | NBN | Benign/Likely benign | 558868023 | RCV001712599|RCV002061881; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958355 | 90958355 | | | NC_000008.10:g.90958355T>C | ClinGen:CA4802620 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2070+11C>T | 4683 | NBN | Likely benign | -1 | RCV003024478; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958357 | 90958357 | | | NC_000008.10:g.90958357G>A | - | | |
NC_000008.11:g.(?_89946130)_(89946305_?)del | 4683 | NBN | Likely pathogenic | -1 | RCV001032964; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958358 | 90958533 | | | -1 | - | | |
NC_000008.11:g.(?_89946130)_(89984571_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV001031482; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958358 | 90996799 | | | -1 | - | | |
NC_000008.10:g.(?_90958358)_(90960130_?)del | 4683 | NBN | Pathogenic | -1 | RCV001385272; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958358 | 90960130 | | | -1 | - | | |
NC_000008.10:g.(?_90958358)_(90996789_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV001904662; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958358 | 90996789 | | | -1 | - | | |
NM_002485.5(NBN):c.2070+9T>C | 4683 | NBN | Likely benign | 2130763437 | RCV001498967; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958359 | 90958359 | | | 90958359 | - | | |
NM_002485.5(NBN):c.2070+8T>C | 4683 | NBN | Likely benign | -1 | RCV002880954; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958360 | 90958360 | | | NC_000008.10:g.90958360A>G | - | | |
NM_002485.5(NBN):c.2070+7A>G | 4683 | NBN | Benign/Likely benign | 757339440 | RCV000536171|RCV001712769; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90958361 | 90958361 | | | 8:g.90958361T>C | ClinGen:CA4802621 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2070+6T>C | 4683 | NBN | Uncertain significance | 1810172843 | RCV001319545; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958362 | 90958362 | | | 90958362 | - | | |
NM_002485.5(NBN):c.2070+5G>T | 4683 | NBN | Uncertain significance | 1323512485 | RCV000689674; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958363 | 90958363 | | | NC_000008.10:g.90958363C>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2070+5G>A | 4683 | NBN | Uncertain significance | 1323512485 | RCV000813856|RCV003472295; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90958363 | 90958363 | | | NC_000008.10:g.90958363C>T | - | | |
NM_002485.5(NBN):c.2070+4G>A | 4683 | NBN | Conflicting interpretations of pathogenicity | 876660950 | RCV000216823|RCV000467512|RCV000842243|RCV002265696; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374 | 8 | 90958364 | 90958364 | | | 8:g.90958364C>T | ClinGen:CA10578746 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2070+3A>G | 4683 | NBN | Uncertain significance | 1810173321 | RCV001210282; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958365 | 90958365 | | | 8:g.90958365T>C | - | | |
NM_002485.5(NBN):c.2070+2T>G | 4683 | NBN | Likely pathogenic | 786203223 | RCV000166440|RCV000759171|RCV001378392; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958366 | 90958366 | | | 8:g.90958366A>C | ClinGen:CA195879 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2070+2del | 4683 | NBN | Likely pathogenic | 1057517075 | RCV000410827|RCV001805031; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958366 | 90958366 | | | 8:g.90958366_90958366del | ClinGen:CA16041201 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2070+2T>A | 4683 | NBN | Likely pathogenic | 786203223 | RCV001996041; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958366 | 90958366 | | | 90958366 | - | | |
NM_002485.5(NBN):c.2070+1G>A | 4683 | NBN | Likely pathogenic | 1554556454 | RCV000580887|RCV000671660; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958367 | 90958367 | | | NC_000008.10:g.90958367C>T | ClinGen:CA371676311 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2070G>T (p.Lys690Asn) | 4683 | NBN | Uncertain significance | 1810173689 | RCV001295808; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958368 | 90958368 | | | 90958368 | - | | |
NM_002485.5(NBN):c.2070G>A (p.Lys690=) | 4683 | NBN | Uncertain significance | -1 | RCV002422143|RCV003098594; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958368 | 90958368 | | | | - | | |
NM_002485.5(NBN):c.2069del (p.Lys690fs) | 4683 | NBN | Pathogenic | -1 | RCV002866437; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958369 | 90958369 | | | NC_000008.10:g.90958373del | - | | |
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln) | 4683 | NBN | Uncertain significance | 587780092 | RCV000115787|RCV000206186|RCV000569267|RCV003474714; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90958370 | 90958370 | | | 8:g.90958370T>G | ClinGen:CA287916 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2066A>G (p.Lys689Arg) | 4683 | NBN | Uncertain significance | 1554556458 | RCV001860092; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958372 | 90958372 | | | 8:g.90958372T>C | ClinGen:CA371676320 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2065A>G (p.Lys689Glu) | 4683 | NBN | Uncertain significance | 1554556461 | RCV001889436; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958373 | 90958373 | | | 90958373 | - | | |
NM_002485.5(NBN):c.2064C>A (p.Phe688Leu) | 4683 | NBN | Uncertain significance | -1 | RCV002716333; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958374 | 90958374 | | | NC_000008.10:g.90958374G>T | - | | |
NM_002485.5(NBN):c.2064C>G (p.Phe688Leu) | 4683 | NBN | Uncertain significance | -1 | RCV002994580; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958374 | 90958374 | | | NC_000008.10:g.90958374G>C | - | | |
NM_002485.5(NBN):c.2063T>G (p.Phe688Cys) | 4683 | NBN | Uncertain significance | 1563512800 | RCV000706693; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958375 | 90958375 | | | NC_000008.10:g.90958375A>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2063T>C (p.Phe688Ser) | 4683 | NBN | Uncertain significance | 1563512800 | RCV001348021; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958375 | 90958375 | | | 90958375 | - | | |
NM_002485.5(NBN):c.2061A>G (p.Lys687=) | 4683 | NBN | Likely benign | 758675398 | RCV000571157|RCV000876925; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958377 | 90958377 | | | 8:g.90958377T>C | ClinGen:CA4802624 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr) | 4683 | NBN | Uncertain significance | 186371605 | RCV000580181|RCV000709061; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958378 | 90958378 | | | 8:g.90958378T>G | ClinGen:CA4802625 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2059A>T (p.Lys687Ter) | 4683 | NBN | Pathogenic | 2130763590 | RCV001996808; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958379 | 90958379 | | | 90958379 | - | | |
NM_002485.5(NBN):c.2058G>A (p.Lys686=) | 4683 | NBN | Likely benign | 2130763599 | RCV001482504; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958380 | 90958380 | | | 90958380 | - | | |
NM_002485.5(NBN):c.2058G>T (p.Lys686Asn) | 4683 | NBN | Uncertain significance | 2130763599 | RCV001929721; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958380 | 90958380 | | | 90958380 | - | | |
NM_002485.5(NBN):c.2049_2057del (p.Asn684_Lys686del) | 4683 | NBN | Uncertain significance | 2130763620 | RCV002009167; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958381 | 90958389 | | | 90958380 | - | | |
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter) | 4683 | NBN | Pathogenic | 786203920 | RCV000167435|RCV002516520; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958382 | 90958382 | | | 8:g.90958382T>A | ClinGen:CA198303 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2056A>G (p.Lys686Glu) | 4683 | NBN | Uncertain significance | 786203920 | RCV001052398; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958382 | 90958382 | | | 8:g.90958382T>C | - | | |
NM_002485.5(NBN):c.2055C>G (p.Phe685Leu) | 4683 | NBN | Uncertain significance | 765458801 | RCV000810146|RCV003344068; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958383 | 90958383 | | | 8:g.90958383G>C | - | | |
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser) | 4683 | NBN | Uncertain significance | 1181142133 | RCV000985873|RCV001014246|RCV001366480|RCV003467538; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90958384 | 90958384 | | | 8:g.90958384A>G | - | | |
NM_002485.5(NBN):c.2053T>C (p.Phe685Leu) | 4683 | NBN | Uncertain significance | 768715280 | RCV001014243|RCV002549404; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958385 | 90958385 | | | 8:g.90958385A>G | - | | |
NM_002485.5(NBN):c.2051dup (p.Asn684fs) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1586040200 | RCV001014209|RCV002551769; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958386 | 90958387 | | | 8:g.90958386_90958387insT | - | | |
NM_002485.5(NBN):c.2051A>G (p.Asn684Ser) | 4683 | NBN | Uncertain significance | 1554556477 | RCV000561958|RCV000800211; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958387 | 90958387 | | | NC_000008.10:g.90958387T>C | ClinGen:CA371676357 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs) | 4683 | NBN | Likely pathogenic | 1057516869 | RCV000410853; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958388 | 90958389 | | | 8:g.90958389_90958389del | ClinGen:CA16041202 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2050A>C (p.Asn684His) | 4683 | NBN | Uncertain significance | 1810176238 | RCV002558926; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958388 | 90958388 | | | 8:g.90958388T>G | - | | |
NM_002485.5(NBN):c.2048A>G (p.Lys683Arg) | 4683 | NBN | Uncertain significance | 2130763713 | RCV001995621; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958390 | 90958390 | | | 90958390 | - | | |
NM_002485.5(NBN):c.2047A>T (p.Lys683Ter) | 4683 | NBN | Likely pathogenic | -1 | RCV002309821; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958391 | 90958391 | | | 90958391 | - | | |
NM_002485.5(NBN):c.2046A>G (p.Leu682=) | 4683 | NBN | Likely benign | 1554556481 | RCV000566212|RCV000636811; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958392 | 90958392 | | | NC_000008.10:g.90958392T>C | ClinGen:CA461837651 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2045T>G (p.Leu682Arg) | 4683 | NBN | Uncertain significance | -1 | RCV003020552; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958393 | 90958393 | | | NC_000008.10:g.90958393A>C | - | | |
NM_002485.5(NBN):c.2044C>T (p.Leu682=) | 4683 | NBN | Likely benign | 1554556483 | RCV000568497|RCV002060475; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958394 | 90958394 | | | 8:g.90958394G>A | ClinGen:CA461837655 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter) | 4683 | NBN | Pathogenic | 1554556485 | RCV000567898|RCV001858377; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958397 | 90958397 | | | 8:g.90958397G>A | ClinGen:CA371676380 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2041C>G (p.Gln681Glu) | 4683 | NBN | Uncertain significance | 1554556485 | RCV001233381; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958397 | 90958397 | | | 8:g.90958397G>C | - | | |
NM_002485.5(NBN):c.2039G>T (p.Gly680Val) | 4683 | NBN | Uncertain significance | 1425101720 | RCV001014161|RCV001238227; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958399 | 90958399 | | | 8:g.90958399C>A | - | | |
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser) | 4683 | NBN | Uncertain significance | 200564603 | RCV000204839|RCV000220088|RCV000505926; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90958400 | 90958400 | | | NC_000008.10:g.90958400C>T | ClinGen:CA349023 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1036111786 | RCV001221956|RCV003462754; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90958400 | 90958401 | | | 8:g.90958400_90958401insATAATCAT | - | | |
NM_002485.5(NBN):c.2037T>C (p.Tyr679=) | 4683 | NBN | Likely benign | 864622555 | RCV000203858|RCV001191354|RCV001722127; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90958401 | 90958401 | | | 8:g.90958401A>G | ClinGen:CA348160 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2036A>G (p.Tyr679Cys) | 4683 | NBN | Uncertain significance | 370295427 | RCV000560001|RCV000567272|RCV003392378; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 8 | 90958402 | 90958402 | | | NC_000008.10:g.90958402T>C | ClinGen:CA4802628 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2034T>C (p.Asp678=) | 4683 | NBN | Likely benign | 769252040 | RCV000222938|RCV002054976; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958404 | 90958404 | | | 8:g.90958404A>G | ClinGen:CA4802629 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2029GAT[1] (p.Asp678del) | 4683 | NBN | Uncertain significance | 1554556498 | RCV000667632|RCV000772514; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958404 | 90958406 | | | 8:g.90958404_90958406del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2033A>G (p.Asp678Gly) | 4683 | NBN | Uncertain significance | 1810178166 | RCV001063192; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958405 | 90958405 | | | 8:g.90958405T>C | - | | |
NM_002485.5(NBN):c.2030A>T (p.Asp677Val) | 4683 | NBN | Uncertain significance | 2130763851 | RCV002036759; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958408 | 90958408 | | | 90958408 | - | | |
NM_002485.5(NBN):c.2030A>G (p.Asp677Gly) | 4683 | NBN | Uncertain significance | 2130763851 | RCV001922550; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958408 | 90958408 | | | 90958408 | - | | |
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) | 4683 | NBN | Conflicting interpretations of pathogenicity | 730881856 | RCV000160794|RCV000205938|RCV000235191|RCV001788054|RCV003317109; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90958409 | 90958409 | | | NC_000008.10:g.90958409C>T | ClinGen:CA299630 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2027A>G (p.Asn676Ser) | 4683 | NBN | Uncertain significance | 1404296922 | RCV000573489|RCV000794371; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958411 | 90958411 | | | NC_000008.10:g.90958411T>C | ClinGen:CA371676413 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2023A>G (p.Ile675Val) | 4683 | NBN | Uncertain significance | 1586040318 | RCV000985872|RCV001858631; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958415 | 90958415 | | | 8:g.90958415T>C | - | | |
NM_002485.5(NBN):c.2022C>T (p.Gly674=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554556503 | RCV000636771|RCV000773236; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958416 | 90958416 | | | NC_000008.10:g.90958416G>A | ClinGen:CA461837692 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2021G>T (p.Gly674Val) | 4683 | NBN | Uncertain significance | 1563513080 | RCV000773353|RCV001856045; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958417 | 90958417 | | | NC_000008.10:g.90958417C>A | - | | |
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser) | 4683 | NBN | Likely benign | 1563513091 | RCV000988080; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958418 | 90958418 | | | 8:g.90958418C>T | - | | |
NM_002485.5(NBN):c.2018C>G (p.Ser673Cys) | 4683 | NBN | Uncertain significance | 1810179050 | RCV001338810|RCV002418996; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958420 | 90958420 | | | 90958420 | - | | |
NM_002485.5(NBN):c.2016A>G (p.Pro672=) | 4683 | NBN | Benign | 1061302 | RCV000162357|RCV000243757|RCV000393183|RCV001706066|RCV002225466|RCV003315968; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:00048 | 8 | 90958422 | 90958422 | | | 8:g.90958422T>C | ClinGen:CA186154 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2016A>C (p.Pro672=) | 4683 | NBN | Likely benign | 1061302 | RCV001502392|RCV003346585; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958422 | 90958422 | | | 90958422 | - | | |
NM_002485.5(NBN):c.2016A>T (p.Pro672=) | 4683 | NBN | Likely benign | -1 | RCV002417406|RCV003101009; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958422 | 90958422 | | | | - | | |
NM_002485.5(NBN):c.2015C>T (p.Pro672Leu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 6413508 | RCV000234509|RCV000568348|RCV000788461; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90958423 | 90958423 | | | 8:g.90958423G>A | ClinGen:CA4802630 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2013T>C (p.Asn671=) | 4683 | NBN | Likely benign | 1586040407 | RCV001499305; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958425 | 90958425 | | | 8:g.90958425A>G | - | | |
NM_002485.5(NBN):c.2013T>G (p.Asn671Lys) | 4683 | NBN | Uncertain significance | 1586040407 | RCV002012597; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958425 | 90958425 | | | 90958425 | - | | |
NM_002485.5(NBN):c.2012A>G (p.Asn671Ser) | 4683 | NBN | Uncertain significance | 1563513183 | RCV000706937|RCV001014078; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958426 | 90958426 | | | NC_000008.10:g.90958426T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2012A>C (p.Asn671Thr) | 4683 | NBN | Uncertain significance | 1563513183 | RCV001875518; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958426 | 90958426 | | | 90958426 | - | | |
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys) | 4683 | NBN | Uncertain significance | 1554556522 | RCV000807866|RCV003467425; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90958429 | 90958429 | | | 8:g.90958429C>T | - | | |
NM_002485.5(NBN):c.2008A>G (p.Arg670Gly) | 4683 | NBN | Uncertain significance | 876658488 | RCV000213231|RCV001828089; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958430 | 90958430 | | | 8:g.90958430T>C | ClinGen:CA10578747 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2007C>T (p.Ser669=) | 4683 | NBN | Likely benign | 200399787 | RCV000532268|RCV000582241; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958431 | 90958431 | | | NC_000008.10:g.90958431G>A | ClinGen:CA4802631 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2004T>C (p.Thr668=) | 4683 | NBN | Likely benign | 1563513242 | RCV002061117|RCV003344036; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958434 | 90958434 | | | NC_000008.10:g.90958434A>G | - | | |
NM_002485.5(NBN):c.2004T>G (p.Thr668=) | 4683 | NBN | Likely benign | 1563513242 | RCV000976915|RCV001014037; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958434 | 90958434 | | | 8:g.90958434A>C | - | | |
NM_002485.5(NBN):c.2003C>T (p.Thr668Ile) | 4683 | NBN | Uncertain significance | 876658336 | RCV000215899|RCV001800543; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958435 | 90958435 | | | 8:g.90958435G>A | ClinGen:CA10578748 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2003C>G (p.Thr668Ser) | 4683 | NBN | Uncertain significance | 876658336 | RCV001208843; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958435 | 90958435 | | | 8:g.90958435G>C | - | | |
NM_002485.5(NBN):c.2002A>G (p.Thr668Ala) | 4683 | NBN | Uncertain significance | 138913151 | RCV000562305|RCV000636746; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958436 | 90958436 | | | NC_000008.10:g.90958436T>C | ClinGen:CA4802632 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs) | 4683 | NBN | Likely pathogenic | 1057516852 | RCV000410892; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958437 | 90958438 | | | 8:g.90958437_90958438del | ClinGen:CA16041203 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2001T>C (p.Ser667=) | 4683 | NBN | Likely benign | 1586040479 | RCV001432791; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958437 | 90958437 | | | 8:g.90958437A>G | - | | |
NM_002485.5(NBN):c.1986_2001del (p.Val663fs) | 4683 | NBN | Pathogenic | 2129647483 | RCV001381045; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958437 | 90958452 | | | 90958436 | - | | |
NM_002485.5(NBN):c.2000C>T (p.Ser667Phe) | 4683 | NBN | Uncertain significance | 374638426 | RCV001297668; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958438 | 90958438 | | | 90958438 | - | | |
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) | 4683 | NBN | Conflicting interpretations of pathogenicity | 587780091 | RCV000115786|RCV000212753|RCV000230585|RCV000515337|RCV001328956|RCV001778709; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90958439 | 90958439 | | | 8:g.90958439A>G | ClinGen:CA287913 | C0023449 613065 Acute lymphoid leukemia; | |
NM_002485.5(NBN):c.1998C>T (p.Asn666=) | 4683 | NBN | Likely benign | 1057523508 | RCV000436655|RCV001459613; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958440 | 90958440 | | | 8:g.90958440G>A | ClinGen:CA16605423 | CN169374 not specified; | |
NM_002485.5(NBN):c.1998C>G (p.Asn666Lys) | 4683 | NBN | Uncertain significance | 1057523508 | RCV001934642|RCV003164149; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958440 | 90958440 | | | 90958440 | - | | |
NM_002485.5(NBN):c.1997A>C (p.Asn666Thr) | 4683 | NBN | Uncertain significance | 2129647636 | RCV001805544|RCV002542406; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958441 | 90958441 | | | 90958441 | - | | |
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554556544 | RCV000570062|RCV000684896; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958445 | 90958445 | | | 8:g.90958445T>C | ClinGen:CA371676482 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1993A>T (p.Lys665Ter) | 4683 | NBN | Pathogenic | 1554556544 | RCV001388858; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958445 | 90958445 | | | 90958445 | - | | |
NM_002485.5(NBN):c.1992dup (p.Lys665Ter) | 4683 | NBN | Pathogenic | 2129647777 | RCV001942161; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958445 | 90958446 | | | 90958445 | - | | |
NM_002485.5(NBN):c.1992T>C (p.Ile664=) | 4683 | NBN | Likely benign | 1810182762 | RCV001403900|RCV002420901; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958446 | 90958446 | | | 90958446 | - | | |
NM_002485.5(NBN):c.1990A>T (p.Ile664Phe) | 4683 | NBN | Uncertain significance | 2129647841 | RCV002010282; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958448 | 90958448 | | | 90958448 | - | | |
NM_002485.5(NBN):c.1989G>A (p.Val663=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 757753217 | RCV000162717|RCV000931948|RCV001503777; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958449 | 90958449 | | | 8:g.90958449C>T | ClinGen:CA186793 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1987G>C (p.Val663Leu) | 4683 | NBN | Uncertain significance | 1554556547 | RCV000556348; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958451 | 90958451 | | | NC_000008.10:g.90958451C>G | ClinGen:CA371676495 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1987G>T (p.Val663Leu) | 4683 | NBN | Uncertain significance | 1554556547 | RCV001970682|RCV002423166; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958451 | 90958451 | | | 90958451 | - | | |
NM_002485.5(NBN):c.1986G>A (p.Leu662=) | 4683 | NBN | Benign/Likely benign | 571803328 | RCV000163250|RCV000471105|RCV001711436; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90958452 | 90958452 | | | 8:g.90958452C>T | ClinGen:CA187850 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1985T>G (p.Leu662Arg) | 4683 | NBN | Uncertain significance | 1810183362 | RCV001342947|RCV002419010; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958453 | 90958453 | | | 90958453 | - | | |
NM_002485.5(NBN):c.1983A>G (p.Ser661=) | 4683 | NBN | Likely benign | 876658655 | RCV000222022|RCV001463175; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958455 | 90958455 | | | 8:g.90958455T>C | ClinGen:CA10578749 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1982C>T (p.Ser661Leu) | 4683 | NBN | Uncertain significance | 1810183784 | RCV001317621|RCV002418960; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958456 | 90958456 | | | 90958456 | - | | |
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter) | 4683 | NBN | Pathogenic | 1810183784 | RCV001897734; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958456 | 90958456 | | | 90958456 | - | | |
NM_002485.5(NBN):c.1980A>G (p.Arg660=) | 4683 | NBN | Likely benign | 2129648040 | RCV002198653; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958458 | 90958458 | | | 90958458 | - | | |
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr) | 4683 | NBN | Conflicting interpretations of pathogenicity | 201781110 | RCV000195616|RCV000486313|RCV000566063|RCV001731429|RCV003407708; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374| | 8 | 90958459 | 90958459 | | | NC_000008.10:g.90958459C>G | ClinGen:CA335799 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys) | 4683 | NBN | Uncertain significance | 201781110 | RCV000213321|RCV000695934|RCV001812237; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90958459 | 90958459 | | | 8:g.90958459C>T | ClinGen:CA10578750 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1977T>C (p.Phe659=) | 4683 | NBN | Likely benign | 2129648097 | RCV001436111; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958461 | 90958461 | | | 90958461 | - | | |
NM_002485.5(NBN):c.1976T>G (p.Phe659Cys) | 4683 | NBN | Uncertain significance | 1410677050 | RCV000817079; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958462 | 90958462 | | | 8:g.90958462A>C | - | | |
NM_002485.5(NBN):c.1975T>G (p.Phe659Val) | 4683 | NBN | Uncertain significance | 1060503469 | RCV000456698; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958463 | 90958463 | | | NC_000008.10:g.90958463A>C | ClinGen:CA16612653 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1974del (p.Glu658fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1057516668 | RCV000411916|RCV000566195|RCV001008143|RCV003470329; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90958464 | 90958464 | | | NC_000008.10:g.90958465del | ClinGen:CA16041204 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1973A>G (p.Glu658Gly) | 4683 | NBN | Uncertain significance | 587782155 | RCV000130735|RCV000543794|RCV001547889; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90958465 | 90958465 | | | 8:g.90958465T>C | ClinGen:CA167004 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1968_1969del (p.Leu656fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002306600; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958469 | 90958470 | | | 90958468 | - | | |
NM_002485.5(NBN):c.1966T>C (p.Leu656=) | 4683 | NBN | Likely benign | 878854508 | RCV000772145|RCV001412090; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958472 | 90958472 | | | 8:g.90958472A>G | ClinGen:CA10582593 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1963T>C (p.Leu655=) | 4683 | NBN | Likely benign | 2129648442 | RCV001466570; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958475 | 90958475 | | | 90958475 | - | | |
NM_002485.5(NBN):c.1961T>G (p.Leu654Arg) | 4683 | NBN | Uncertain significance | 758728938 | RCV000636769|RCV002420712; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958477 | 90958477 | | | NC_000008.10:g.90958477A>C | ClinGen:CA4802634 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1958dup (p.Leu654fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 780235686 | RCV000554742|RCV002420406|RCV003470737; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90958479 | 90958480 | | | NC_000008.10:g.90958485dup | ClinGen:CA4802635 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1959G>A (p.Lys653=) | 4683 | NBN | Likely benign | 2129648549 | RCV001496097; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958479 | 90958479 | | | 90958479 | - | | |
NM_002485.5(NBN):c.1954A>G (p.Lys652Glu) | 4683 | NBN | Uncertain significance | 780360772 | RCV000703677|RCV002422587; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958484 | 90958484 | | | 8:g.90958484T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1952C>T (p.Pro651Leu) | 4683 | NBN | Uncertain significance | 1554556572 | RCV000542436; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958486 | 90958486 | | | NC_000008.10:g.90958486G>A | ClinGen:CA371676661 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1951C>T (p.Pro651Ser) | 4683 | NBN | Uncertain significance | 1810185871 | RCV001859128; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958487 | 90958487 | | | 8:g.90958487G>A | - | | |
NM_002485.5(NBN):c.1950T>C (p.Leu650=) | 4683 | NBN | Likely benign | 2129648687 | RCV002146429; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958488 | 90958488 | | | 90958488 | - | | |
NM_002485.5(NBN):c.1947G>A (p.Met649Ile) | 4683 | NBN | Uncertain significance | 1554556579 | RCV000572263|RCV001071174|RCV001821661; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90958491 | 90958491 | | | NC_000008.10:g.90958491C>T | ClinGen:CA371676688 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1946T>C (p.Met649Thr) | 4683 | NBN | Uncertain significance | 1554556582 | RCV000590872|RCV001041010|RCV001013779; | N | MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958492 | 90958492 | | | 8:g.90958492A>G | ClinGen:CA371676695 | CN235590 breast cancer; | |
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg) | 4683 | NBN | Uncertain significance | 1477953712 | RCV000525296|RCV000573162|RCV001577433; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90958497 | 90958497 | | | NC_000008.10:g.90958497A>T | ClinGen:CA371676724 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1941T>C (p.Ser647=) | 4683 | NBN | Likely benign | 1477953712 | RCV001445478; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958497 | 90958497 | | | 90958497 | - | | |
NM_002485.5(NBN):c.1939del (p.Ser647fs) | 4683 | NBN | Pathogenic | 2129648967 | RCV001386209; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958499 | 90958499 | | | 90958498 | - | | |
NM_002485.5(NBN):c.1936G>A (p.Asp646Asn) | 4683 | NBN | Uncertain significance | 2129649024 | RCV001524779|RCV001872049; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958502 | 90958502 | | | 90958502 | - | | |
NM_002485.5(NBN):c.1935T>A (p.Asp645Glu) | 4683 | NBN | Uncertain significance | 1172294340 | RCV000816582; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958503 | 90958503 | | | 8:g.90958503A>T | - | | |
NM_002485.5(NBN):c.1933G>A (p.Asp645Asn) | 4683 | NBN | Uncertain significance | 1064796613 | RCV000478655|RCV001317951|RCV002413340; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958505 | 90958505 | | | 8:g.90958505C>T | ClinGen:CA16618698 | CN169374 not specified; | |
NM_002485.5(NBN):c.1933G>T (p.Asp645Tyr) | 4683 | NBN | Uncertain significance | 1064796613 | RCV000565372|RCV001071353|RCV001571743; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90958505 | 90958505 | | | 8:g.90958505C>A | ClinGen:CA371676770 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1932G>A (p.Gln644=) | 4683 | NBN | Likely benign | 754783870 | RCV000421334|RCV001013639|RCV001496045; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958506 | 90958506 | | | 8:g.90958506C>T | ClinGen:CA4802638 | CN169374 not specified; | |
NM_002485.5(NBN):c.1932G>T (p.Gln644His) | 4683 | NBN | Uncertain significance | 754783870 | RCV001366139; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958506 | 90958506 | | | 90958506 | - | | |
NM_002485.5(NBN):c.1931A>G (p.Gln644Arg) | 4683 | NBN | Uncertain significance | 1554556598 | RCV000553376; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958507 | 90958507 | | | NC_000008.10:g.90958507T>C | ClinGen:CA371676778 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys) | 4683 | NBN | Uncertain significance | 764050423 | RCV000564678|RCV000588176|RCV001345706; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958508 | 90958508 | | | 8:g.90958508G>T | ClinGen:CA181274836 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1927C>G (p.Leu643Val) | 4683 | NBN | Uncertain significance | 1586040775 | RCV001219743; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958511 | 90958511 | | | 8:g.90958511G>C | - | | |
NM_002485.5(NBN):c.1927C>T (p.Leu643Phe) | 4683 | NBN | Uncertain significance | -1 | RCV002644236; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958511 | 90958511 | | | NC_000008.10:g.90958511G>A | - | | |
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg) | 4683 | NBN | Uncertain significance | 587781547 | RCV000129561|RCV000204812|RCV000206550|RCV000780524; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:1331|MedGen:CN169374 | 8 | 90958513 | 90958513 | | | 8:g.90958513T>C | ClinGen:CA164668 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1923C>A (p.Asp641Glu) | 4683 | NBN | Uncertain significance | 1563513669 | RCV000698523; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958515 | 90958515 | | | NC_000008.10:g.90958515G>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1923del (p.Asp641fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002310034; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958515 | 90958515 | | | 90958514 | - | | |
NM_002485.5(NBN):c.1922A>G (p.Asp641Gly) | 4683 | NBN | Uncertain significance | 921235584 | RCV000471777|RCV000731912; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN517202 | 8 | 90958516 | 90958516 | | | NC_000008.10:g.90958516T>C | ClinGen:CA16612357 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1921G>A (p.Asp641Asn) | 4683 | NBN | Uncertain significance | 1586040820 | RCV000807436; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958517 | 90958517 | | | 8:g.90958517C>T | - | | |
NM_002485.5(NBN):c.1920T>C (p.Asn640=) | 4683 | NBN | Likely benign | 1554556602 | RCV000540756|RCV003302807; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958518 | 90958518 | | | NC_000008.10:g.90958518A>G | ClinGen:CA461837857 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1920T>A (p.Asn640Lys) | 4683 | NBN | Uncertain significance | 1554556602 | RCV001898422|RCV002407015; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958518 | 90958518 | | | 90958518 | - | | |
NM_002485.5(NBN):c.1919A>G (p.Asn640Ser) | 4683 | NBN | Uncertain significance | 748073091 | RCV000167135|RCV000204732|RCV000483254; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90958519 | 90958519 | | | 8:g.90958519T>C | ClinGen:CA197577 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1919A>T (p.Asn640Ile) | 4683 | NBN | Uncertain significance | 748073091 | RCV001362385|RCV003169811; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958519 | 90958519 | | | 90958519 | - | | |
NM_002485.5(NBN):c.1918A>G (p.Asn640Asp) | 4683 | NBN | Uncertain significance | 1810188771 | RCV001338456|RCV002412057; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958520 | 90958520 | | | 90958520 | - | | |
NM_002485.5(NBN):c.1915-3dup | 4683 | NBN | Likely benign | 2129649518 | RCV001499850; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958524 | 90958525 | | | 90958524 | - | | |
NM_002485.5(NBN):c.1915-5T>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554556608 | RCV000547745|RCV001800748|RCV003470736; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90958528 | 90958528 | | | NC_000008.10:g.90958528A>C | ClinGen:CA658657785 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1915-7A>G | 4683 | NBN | Benign | 2308962 | RCV000251758|RCV000363485|RCV001711691|RCV002225562|RCV003316395; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:H | 8 | 90958530 | 90958530 | | | 8:g.90958530T>C | ClinGen:CA4802639 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1915-8_1915-7inv | 4683 | NBN | Likely benign | -1 | RCV001414357; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958530 | 90958531 | | | NC_000008.10:g.90958530_90958531inv | - | | |
NM_002485.5(NBN):c.1915-8C>T | 4683 | NBN | Conflicting interpretations of pathogenicity | 368132097 | RCV000579007|RCV000636792|RCV002257847; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90958531 | 90958531 | | | 8:g.90958531G>A | ClinGen:CA4802640 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1915-9C>T | 4683 | NBN | Likely benign | -1 | RCV002894034; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958532 | 90958532 | | | NC_000008.10:g.90958532G>A | - | | |
NM_002485.5(NBN):c.1915-10C>G | 4683 | NBN | Uncertain significance | 1586040877 | RCV000813573; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958533 | 90958533 | | | 8:g.90958533G>C | - | | |
NM_002485.5(NBN):c.1915-11C>T | 4683 | NBN | Likely benign | 1053297568 | RCV000679457|RCV002066991; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958534 | 90958534 | | | 8:g.90958534G>A | - | CN517202 not provided; | |
NM_002485.5(NBN):c.1915-15T>G | 4683 | NBN | Uncertain significance | 2129649793 | RCV001872061; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958538 | 90958538 | | | 90958538 | - | | |
NM_002485.5(NBN):c.1915-16C>G | 4683 | NBN | Likely benign | -1 | RCV003019709; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958539 | 90958539 | | | NC_000008.10:g.90958539G>C | - | | |
NM_002485.5(NBN):c.1915-18A>G | 4683 | NBN | Likely benign | -1 | RCV002614333; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958541 | 90958541 | | | NC_000008.10:g.90958541T>C | - | | |
NM_002485.5(NBN):c.1915-19C>T | 4683 | NBN | Likely benign | 1810190195 | RCV002068260; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90958542 | 90958542 | | | 8:g.90958542G>A | - | | |
NM_002485.5(NBN):c.1914+18_1914+21del | 4683 | NBN | Likely benign | 773894616 | RCV000478298|RCV000774550|RCV002063799; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960031 | 90960034 | | | 8:g.90960031_90960034del | ClinGen:CA4802658 | CN169374 not specified; | |
NM_002485.5(NBN):c.1914+20T>G | 4683 | NBN | Likely benign | 1459013677 | RCV001191728|RCV002560127; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960032 | 90960032 | | | 8:g.90960032A>C | - | | |
NM_002485.5(NBN):c.1914+19A>C | 4683 | NBN | Likely benign | 2129659201 | RCV002099442; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960033 | 90960033 | | | 90960033 | - | | |
NM_002485.5(NBN):c.1914+16_1914+18del | 4683 | NBN | Likely benign | 1437396256 | RCV000584473|RCV002061880; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960034 | 90960036 | | | 8:g.90960034_90960036del | ClinGen:CA583379408 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1914+18A>G | 4683 | NBN | Likely benign | 2129659249 | RCV002137132; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960034 | 90960034 | | | 90960034 | - | | |
NM_002485.5(NBN):c.1914+17T>C | 4683 | NBN | Likely benign | 1275235372 | RCV002120616; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960035 | 90960035 | | | 90960035 | - | | |
NM_002485.5(NBN):c.1914+16T>C | 4683 | NBN | Likely benign | 755194571 | RCV002092636; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960036 | 90960036 | | | 90960036 | - | | |
NM_002485.5(NBN):c.1914+10G>A | 4683 | NBN | Conflicting interpretations of pathogenicity | 577706448 | RCV000192466|RCV000232925|RCV000581136|RCV000679456|RCV001357262; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90960042 | 90960042 | | | 8:g.90960042C>T | ClinGen:CA205304 | C0027672 Hereditary cancer-predisposing syndrome; | |
NC_000008.10:g.(?_90960042)_(90976745_?)del | 4683 | NBN | Pathogenic | -1 | RCV003107698; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960042 | 90976745 | | | | - | | |
NM_002485.5(NBN):c.1914+9C>T | 4683 | NBN | Benign | 13312938 | RCV000119107|RCV000131005|RCV000507886|RCV000759170|RCV001357373|RCV002225344|RCV003315698; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1 | 8 | 90960043 | 90960043 | | | 8:g.90960043G>A | ClinGen:CA167541 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1914+8A>G | 4683 | NBN | Likely benign | 2129659430 | RCV001436901; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960044 | 90960044 | | | 90960044 | - | | |
NM_002485.5(NBN):c.1914+7A>T | 4683 | NBN | Likely benign | -1 | RCV002957963; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960045 | 90960045 | | | NC_000008.10:g.90960045T>A | - | | |
NM_002485.5(NBN):c.1914+5G>A | 4683 | NBN | Uncertain significance | 1586043509 | RCV000804258; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960047 | 90960047 | | | 8:g.90960047C>T | - | | |
NM_002485.5(NBN):c.1914+3G>A | 4683 | NBN | Uncertain significance | 1554556878 | RCV000573787|RCV001205034; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960049 | 90960049 | | | 8:g.90960049C>T | ClinGen:CA658657786 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1914+2_1914+3del | 4683 | NBN | Conflicting interpretations of pathogenicity | 1586043528 | RCV000988081|RCV001186720; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960049 | 90960050 | | | 8:g.90960049_90960050del | - | | |
NM_002485.5(NBN):c.1914+2T>G | 4683 | NBN | Likely pathogenic | 2129659522 | RCV001377502; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960050 | 90960050 | | | 90960050 | - | | |
NM_002485.5(NBN):c.1911_1914+1del | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554556880 | RCV000582963|RCV000804835; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960051 | 90960055 | | | 8:g.90960051_90960055del | ClinGen:CA658683526 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1914+1G>T | 4683 | NBN | Likely pathogenic | -1 | RCV003049650; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960051 | 90960051 | | | NC_000008.10:g.90960051C>A | - | | |
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr) | 4683 | NBN | Uncertain significance | 756036331 | RCV000165086|RCV000473926|RCV001589032|RCV003317120|RCV003474864; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90960053 | 90960053 | | | 8:g.90960053G>T | ClinGen:CA192486 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) | 4683 | NBN | Uncertain significance | 199657566 | RCV000129714|RCV000214531|RCV000229344|RCV001193652|RCV001354210; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517 | 8 | 90960054 | 90960054 | | | 8:g.90960054A>G | ClinGen:CA164965 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1912del (p.Ser638fs) | 4683 | NBN | Pathogenic | -1 | RCV002847761; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960054 | 90960054 | | | NC_000008.10:g.90960054del | - | | |
NM_002485.5(NBN):c.1911A>G (p.Ile637Met) | 4683 | NBN | Uncertain significance | 372877871 | RCV001034923; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960055 | 90960055 | | | 8:g.90960055T>C | - | | |
NM_002485.5(NBN):c.1910T>A (p.Ile637Lys) | 4683 | NBN | Uncertain significance | 876658613 | RCV000221383|RCV000795459; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960056 | 90960056 | | | 8:g.90960056A>T | ClinGen:CA10578751 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1563516254 | RCV000779565|RCV002406705; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960056 | 90960057 | | | NC_000008.10:g.90960056_90960057delinsTA | - | | |
NM_002485.5(NBN):c.1908A>C (p.Glu636Asp) | 4683 | NBN | Uncertain significance | 1563516272 | RCV000697007; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960058 | 90960058 | | | NC_000008.10:g.90960058T>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1908A>G (p.Glu636=) | 4683 | NBN | Likely benign | -1 | RCV002408385|RCV003097341; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960058 | 90960058 | | | | - | | |
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 587782545 | RCV000131755|RCV000227700|RCV000219708|RCV000763606|RCV003467185; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotyp | 8 | 90960063 | 90960063 | | | 8:g.90960063T>A | ClinGen:CA168703 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1903A>G (p.Lys635Glu) | 4683 | NBN | Uncertain significance | 587782545 | RCV001247748; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960063 | 90960063 | | | 8:g.90960063T>C | - | | |
NM_002485.5(NBN):c.1902T>G (p.Ala634=) | 4683 | NBN | Likely benign | 876660052 | RCV000219178|RCV000988082|RCV001706240; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90960064 | 90960064 | | | 8:g.90960064A>C | ClinGen:CA10578752 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1902T>C (p.Ala634=) | 4683 | NBN | Likely benign | 876660052 | RCV000636793|RCV001013625; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960064 | 90960064 | | | NC_000008.10:g.90960064A>G | ClinGen:CA461839077 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1900G>A (p.Ala634Thr) | 4683 | NBN | Uncertain significance | 1554556892 | RCV000534847; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960066 | 90960066 | | | NC_000008.10:g.90960066C>T | ClinGen:CA371677210 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1898C>T (p.Ser633Leu) | 4683 | NBN | Uncertain significance | 1554556897 | RCV000636720|RCV001013546; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960068 | 90960068 | | | NC_000008.10:g.90960068G>A | ClinGen:CA371677211 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1897T>G (p.Ser633Ala) | 4683 | NBN | Uncertain significance | -1 | RCV002408146|RCV003100923; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960069 | 90960069 | | | 90960069 | - | | |
NM_002485.5(NBN):c.1896G>T (p.Trp632Cys) | 4683 | NBN | Uncertain significance | 1221760506 | RCV000821475; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960070 | 90960070 | | | 8:g.90960070C>A | - | | |
NM_002485.5(NBN):c.1896del (p.Trp632fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002310126; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960070 | 90960070 | | | 90960069 | - | | |
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter) | 4683 | NBN | Pathogenic | -1 | RCV002875551|RCV003167840; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960070 | 90960070 | | | NC_000008.10:g.90960070C>T | - | | |
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter) | 4683 | NBN | Pathogenic | 2129659855 | RCV001999711|RCV002407175; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960071 | 90960071 | | | 90960071 | - | | |
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg) | 4683 | NBN | Uncertain significance | 1586043635 | RCV000985871|RCV001013520|RCV001050061|RCV003467537; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90960072 | 90960072 | | | 8:g.90960072A>G | - | | |
NM_002485.5(NBN):c.1893A>G (p.Leu631=) | 4683 | NBN | Likely benign | 778364604 | RCV000435708|RCV000564388|RCV000636818|RCV001172188; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90960073 | 90960073 | | | 8:g.90960073T>C | ClinGen:CA4802661 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1891C>G (p.Leu631Val) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1064793477 | RCV000486410|RCV001013475|RCV001309682; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960075 | 90960075 | | | 8:g.90960075G>C | ClinGen:CA16618699 | CN169374 not specified; | |
NM_002485.5(NBN):c.1891C>T (p.Leu631=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1064793477 | RCV002117124|RCV002409504; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960075 | 90960075 | | | 90960075 | - | | |
NM_002485.5(NBN):c.1890A>C (p.Ser630=) | 4683 | NBN | Benign/Likely benign | 587780778 | RCV000163378|RCV000679455|RCV001089196|RCV001192403; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90960076 | 90960076 | | | 8:g.90960076T>G | ClinGen:CA188132 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter) | 4683 | NBN | Pathogenic | 1810267412 | RCV001947519|RCV002406960; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960077 | 90960077 | | | 90960077 | - | | |
NM_002485.5(NBN):c.1889C>T (p.Ser630Leu) | 4683 | NBN | Uncertain significance | 1810267412 | RCV002026644|RCV002407310; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960077 | 90960077 | | | 90960077 | - | | |
NM_002485.5(NBN):c.1888T>C (p.Ser630Pro) | 4683 | NBN | Uncertain significance | 377132067 | RCV000194251|RCV000206789|RCV000561571|RCV000766498; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90960078 | 90960078 | | | 8:g.90960078A>G | ClinGen:CA208304 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1886A>C (p.Asp629Ala) | 4683 | NBN | Uncertain significance | 1586043675 | RCV000814763; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960080 | 90960080 | | | 8:g.90960080T>G | - | | |
NM_002485.5(NBN):c.1886A>G (p.Asp629Gly) | 4683 | NBN | Uncertain significance | 1586043675 | RCV001162815; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960080 | 90960080 | | | 8:g.90960080T>C | - | | |
NM_002485.5(NBN):c.1885G>T (p.Asp629Tyr) | 4683 | NBN | Uncertain significance | 745559078 | RCV000462714|RCV001764447; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN517202 | 8 | 90960081 | 90960081 | | | NC_000008.10:g.90960081C>A | ClinGen:CA16612655 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1178384498 | RCV000582656|RCV000795888|RCV001770534|RCV003471931; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90960081 | 90960084 | | | NC_000008.10:g.90960084_90960087del | ClinGen:CA583379410 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1885G>A (p.Asp629Asn) | 4683 | NBN | Uncertain significance | 745559078 | RCV002014959; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960081 | 90960081 | | | 90960081 | - | | |
NM_002485.5(NBN):c.1884A>G (p.Glu628=) | 4683 | NBN | Likely benign | 771709611 | RCV001477589; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960082 | 90960082 | | | 90960082 | - | | |
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) | 4683 | NBN | Benign/Likely benign | 115321485 | RCV000131006|RCV000212752|RCV000224857|RCV001084223|RCV002225345|RCV002498542|RCV003315700; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|MONDO:MONDO:0009623,MedGen:C03987 | 8 | 90960084 | 90960084 | | | 8:g.90960084C>T | ClinGen:CA294275 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1881G>T (p.Lys627Asn) | 4683 | NBN | Uncertain significance | 2129660206 | RCV001969187; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960085 | 90960085 | | | 90960085 | - | | |
NM_002485.5(NBN):c.1880A>T (p.Lys627Met) | 4683 | NBN | Uncertain significance | 762174459 | RCV000199176; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960086 | 90960086 | | | 8:g.90960086T>A | ClinGen:CA338447 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1880A>G (p.Lys627Arg) | 4683 | NBN | Uncertain significance | 762174459 | RCV000214447|RCV000232800|RCV002272179; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90960086 | 90960086 | | | 8:g.90960086T>C | ClinGen:CA4802664 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1877T>G (p.Leu626Arg) | 4683 | NBN | Uncertain significance | 1237629649 | RCV000636700|RCV001013503; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960089 | 90960089 | | | NC_000008.10:g.90960089A>C | ClinGen:CA371677254 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1874A>G (p.Glu625Gly) | 4683 | NBN | Uncertain significance | 1554556929 | RCV000636714|RCV002406368; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960092 | 90960092 | | | NC_000008.10:g.90960092T>C | ClinGen:CA371677263 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1874A>C (p.Glu625Ala) | 4683 | NBN | Uncertain significance | -1 | RCV002297163; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960092 | 90960092 | | | 90960092 | - | | |
NM_002485.5(NBN):c.1873G>A (p.Glu625Lys) | 4683 | NBN | Uncertain significance | 369049359 | RCV000466304|RCV000775379; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960093 | 90960093 | | | NC_000008.10:g.90960093C>T | ClinGen:CA16612359 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1871_1873del (p.Arg624_Glu625delinsGln) | 4683 | NBN | Uncertain significance | 1554556932 | RCV000550938; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960093 | 90960095 | | | NC_000008.10:g.90960093_90960095del | ClinGen:CA658657787 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1871G>A (p.Arg624His) | 4683 | NBN | Uncertain significance | 587782297 | RCV000131180|RCV000197335|RCV000212751|RCV003467165; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90960095 | 90960095 | | | 8:g.90960095C>T | ClinGen:CA294312 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1871G>T (p.Arg624Leu) | 4683 | NBN | Uncertain significance | 587782297 | RCV000572017|RCV001068570; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960095 | 90960095 | | | 8:g.90960095C>A | ClinGen:CA371677268 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys) | 4683 | NBN | Conflicting interpretations of pathogenicity | 962092255 | RCV000565273|RCV000687082|RCV003465269; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90960096 | 90960096 | | | 8:g.90960096G>A | ClinGen:CA181275404 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1870C>G (p.Arg624Gly) | 4683 | NBN | Uncertain significance | 962092255 | RCV001337645|RCV002412054; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960096 | 90960096 | | | 90960096 | - | | |
NM_002485.5(NBN):c.1869A>G (p.Lys623=) | 4683 | NBN | Likely benign | 2129660412 | RCV001392081; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960097 | 90960097 | | | 90960097 | - | | |
NM_002485.5(NBN):c.1868A>G (p.Lys623Arg) | 4683 | NBN | Uncertain significance | 1810269932 | RCV001037324; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960098 | 90960098 | | | 8:g.90960098T>C | - | | |
NM_002485.5(NBN):c.1866G>C (p.Lys622Asn) | 4683 | NBN | Uncertain significance | 587782221 | RCV000130912|RCV000167920; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960100 | 90960100 | | | 8:g.90960100C>G | ClinGen:CA167364 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1865A>G (p.Lys622Arg) | 4683 | NBN | Uncertain significance | 1381148233 | RCV001900639; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960101 | 90960101 | | | 90960101 | - | | |
NM_002485.5(NBN):c.1861G>A (p.Gly621Arg) | 4683 | NBN | Uncertain significance | 1810270617 | RCV001068022; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960105 | 90960105 | | | 8:g.90960105C>T | - | | |
NM_002485.5(NBN):c.1860T>C (p.Ile620=) | 4683 | NBN | Likely benign | 1060504927 | RCV000468060; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960106 | 90960106 | | | NC_000008.10:g.90960106A>G | ClinGen:CA16612464 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1860del (p.Ile620fs) | 4683 | NBN | Pathogenic | 1810270891 | RCV001227171; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960106 | 90960106 | | | 8:g.90960106_90960106del | - | | |
NM_002485.5(NBN):c.1858A>G (p.Ile620Val) | 4683 | NBN | Uncertain significance | 1810270999 | RCV001309694; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960108 | 90960108 | | | 90960108 | - | | |
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs) | 4683 | NBN | Pathogenic | 1060503466 | RCV000475546|RCV001013351; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960109 | 90960112 | | | NC_000008.10:g.90960111_90960114del | ClinGen:CA16612531 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1856A>C (p.Glu619Ala) | 4683 | NBN | Uncertain significance | 763546746 | RCV000985870|RCV001244246|RCV002409315; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960110 | 90960110 | | | 8:g.90960110T>G | - | | |
NM_002485.5(NBN):c.1854T>C (p.Asn618=) | 4683 | NBN | Likely benign | 2129660657 | RCV002209070; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960112 | 90960112 | | | 90960112 | - | | |
NM_002485.5(NBN):c.1851A>C (p.Glu617Asp) | 4683 | NBN | Uncertain significance | 1660299603 | RCV001177958|RCV001875869; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960115 | 90960115 | | | 8:g.90960115T>G | - | | |
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) | 4683 | NBN | Uncertain significance | 766602873 | RCV000219280|RCV000460678|RCV001290554|RCV003469004; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90960117 | 90960117 | | | 8:g.90960117C>T | ClinGen:CA4802667 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1849G>C (p.Glu617Gln) | 4683 | NBN | Uncertain significance | 766602873 | RCV000817787; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960117 | 90960117 | | | 8:g.90960117C>G | - | | |
NM_002485.5(NBN):c.1849G>T (p.Glu617Ter) | 4683 | NBN | Pathogenic | 766602873 | RCV001238488; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960117 | 90960117 | | | 8:g.90960117C>A | - | | |
NM_002485.5(NBN):c.1848A>G (p.Gln616=) | 4683 | NBN | Uncertain significance | 587782269 | RCV000131012|RCV000469755|RCV001753516; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90960118 | 90960118 | | | 8:g.90960118T>C | ClinGen:CA167547 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1848del (p.Glu617fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1057516611 | RCV000411194|RCV001525393|RCV003470328; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90960118 | 90960118 | | | 8:g.90960118_90960118del | ClinGen:CA16041205 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1846-1G>A | 4683 | NBN | Conflicting interpretations of pathogenicity | 61753717 | RCV000411891|RCV000572719|RCV003168596; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 | 8 | 90960121 | 90960121 | | | 8:g.90960121C>T | ClinGen:CA16041206 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1846-5_1846-2dup | 4683 | NBN | Uncertain significance | 1554556962 | RCV000665021; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960121 | 90960122 | | | 8:g.90960121_90960122insTAAA | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1846-1G>T | 4683 | NBN | Likely pathogenic | 61753717 | RCV001043646; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960121 | 90960121 | | | 8:g.90960121C>A | - | | |
NM_002485.5(NBN):c.1846-3T>C | 4683 | NBN | Uncertain significance | 1810272337 | RCV001236992|RCV002411875; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960123 | 90960123 | | | 8:g.90960123A>G | - | | |
NM_002485.5(NBN):c.1846-6C>T | 4683 | NBN | Likely benign | 1586043853 | RCV001477830; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960126 | 90960126 | | | 8:g.90960126G>A | - | | |
NM_002485.5(NBN):c.1846-11_1846-7del | 4683 | NBN | Conflicting interpretations of pathogenicity | 1060504925 | RCV000595480|RCV000775765|RCV001088838; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960127 | 90960131 | | | NC_000008.10:g.90960130TAAAA[1] | ClinGen:CA16612658 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1846-7T>G | 4683 | NBN | Likely benign | 2129660876 | RCV002083943; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960127 | 90960127 | | | 90960127 | - | | |
NM_002485.5(NBN):c.1846-9T>C | 4683 | NBN | Likely benign | 1554556966 | RCV000533776|RCV001189373; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90960129 | 90960129 | | | NC_000008.10:g.90960129A>G | ClinGen:CA658657788 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1846-10A>T | 4683 | NBN | Likely benign | 2129660939 | RCV001467613; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960130 | 90960130 | | | 90960130 | - | | |
NM_002485.5(NBN):c.1846-10A>G | 4683 | NBN | Likely benign | 2129660939 | RCV001474464; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960130 | 90960130 | | | 90960130 | - | | |
NM_002485.5(NBN):c.1846-17_1846-11del | 4683 | NBN | Uncertain significance | -1 | RCV003036484; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960131 | 90960137 | | | NC_000008.10:g.90960137_90960143del | - | | |
NM_002485.5(NBN):c.1846-14T>C | 4683 | NBN | Likely benign | 2129661007 | RCV002215450; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90960134 | 90960134 | | | 90960134 | - | | |
NM_002485.5(NBN):c.1845+19G>A | 4683 | NBN | Likely benign | 1810518461 | RCV002068269; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965453 | 90965453 | | | 8:g.90965453C>T | - | | |
NM_002485.5(NBN):c.1845+17A>G | 4683 | NBN | Likely benign | 1810518657 | RCV001876085; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965455 | 90965455 | | | 8:g.90965455T>C | - | | |
NM_002485.5(NBN):c.1845+13T>C | 4683 | NBN | Likely benign | 1339779522 | RCV002067922; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965459 | 90965459 | | | 8:g.90965459A>G | - | | |
NM_002485.5(NBN):c.1845+10A>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 570914185 | RCV000927165|RCV001401955|RCV001818889; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90965462 | 90965462 | | | 8:g.90965462T>C | - | | |
NM_002485.5(NBN):c.1845+9C>T | 4683 | NBN | Likely benign | 1586052588 | RCV001446228; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965463 | 90965463 | | | 8:g.90965463G>A | - | | |
NM_002485.5(NBN):c.1845+9C>G | 4683 | NBN | Likely benign | -1 | RCV003039703; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965463 | 90965463 | | | NC_000008.10:g.90965463G>C | - | | |
NM_002485.5(NBN):c.1845+5_1845+8del | 4683 | NBN | Uncertain significance | 1563524615 | RCV000705348|RCV003465634; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965464 | 90965467 | | | NC_000008.10:g.90965464TTAC[1] | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1845+8A>G | 4683 | NBN | Likely benign | 757994058 | RCV002176642; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965464 | 90965464 | | | 90965464 | - | | |
NM_002485.5(NBN):c.1845+6T>C | 4683 | NBN | Uncertain significance | 1033050295 | RCV000689586; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965466 | 90965466 | | | 8:g.90965466A>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1845+3A>G | 4683 | NBN | Uncertain significance | 587780777 | RCV000123209|RCV000565150|RCV002281950; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90965469 | 90965469 | | | 8:g.90965469T>C | ClinGen:CA332819 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1845+2dup | 4683 | NBN | Uncertain significance | 1586052628 | RCV000802638|RCV001013375; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965469 | 90965470 | | | 8:g.90965469_90965470insA | - | | |
NM_002485.5(NBN):c.1845+2T>C | 4683 | NBN | Likely pathogenic | 1586052622 | RCV000800755; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965470 | 90965470 | | | 8:g.90965470A>G | - | | |
NM_002485.5(NBN):c.1845+2T>G | 4683 | NBN | Likely pathogenic | -1 | RCV003047186; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965470 | 90965470 | | | NC_000008.10:g.90965470A>C | - | | |
NM_002485.5(NBN):c.1845+1G>A | 4683 | NBN | Likely pathogenic | 2129695663 | RCV001818104|RCV002406900|RCV001885361; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965471 | 90965471 | | | 90965471 | - | | |
NM_002485.5(NBN):c.1845T>C (p.Ser615=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1810519877 | RCV001206590|RCV002411760; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965472 | 90965472 | | | 8:g.90965472A>G | - | | |
NM_002485.5(NBN):c.1844C>T (p.Ser615Phe) | 4683 | NBN | Uncertain significance | 1810520002 | RCV001039183; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965473 | 90965473 | | | 8:g.90965473G>A | - | | |
NM_002485.5(NBN):c.1844C>G (p.Ser615Cys) | 4683 | NBN | Uncertain significance | -1 | RCV002797212; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965473 | 90965473 | | | NC_000008.10:g.90965473G>C | - | | |
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro) | 4683 | NBN | Uncertain significance | 746632073 | RCV000471606|RCV000483350|RCV000569351|RCV001290536|RCV003476116; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90965474 | 90965474 | | | NC_000008.10:g.90965474A>G | ClinGen:CA4802679 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1842A>G (p.Ile614Met) | 4683 | NBN | Uncertain significance | 770345026 | RCV000483770|RCV000551607|RCV000567792|RCV000985869; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90965475 | 90965475 | | | 8:g.90965475T>C | ClinGen:CA4802680 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1841T>C (p.Ile614Thr) | 4683 | NBN | Uncertain significance | 1586052647 | RCV000801397|RCV003166205; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965476 | 90965476 | | | 8:g.90965476A>G | - | | |
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu) | 4683 | NBN | Uncertain significance | 1554558199 | RCV000569440|RCV001040493; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965480 | 90965480 | | | NC_000008.10:g.90965480T>C | ClinGen:CA371654978 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter) | 4683 | NBN | Pathogenic | 1554558199 | RCV001863317|RCV002406928; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965480 | 90965480 | | | 90965480 | - | | |
NM_002485.5(NBN):c.1833T>C (p.Ser611=) | 4683 | NBN | Likely benign | 1554558203 | RCV000615305|RCV001483627; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965484 | 90965484 | | | 8:g.90965484A>G | ClinGen:CA462114533 | CN169374 not specified; | |
NM_002485.5(NBN):c.1830A>G (p.Glu610=) | 4683 | NBN | Likely benign | 2129695896 | RCV001456682; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965487 | 90965487 | | | 90965487 | - | | |
NM_002485.5(NBN):c.1828G>A (p.Glu610Lys) | 4683 | NBN | Uncertain significance | -1 | RCV002705553; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965489 | 90965489 | | | NC_000008.10:g.90965489C>T | - | | |
NM_002485.5(NBN):c.1825C>A (p.Pro609Thr) | 4683 | NBN | Uncertain significance | 372012641 | RCV000206603|RCV000563298; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965492 | 90965492 | | | 8:g.90965492G>T | ClinGen:CA350617 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1825C>T (p.Pro609Ser) | 4683 | NBN | Uncertain significance | 372012641 | RCV001201882; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965492 | 90965492 | | | 8:g.90965492G>A | - | | |
NM_002485.5(NBN):c.1821A>G (p.Ala607=) | 4683 | NBN | Likely benign | 1554558213 | RCV000636812; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965496 | 90965496 | | | NC_000008.10:g.90965496T>C | ClinGen:CA462114541 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1820C>T (p.Ala607Val) | 4683 | NBN | Uncertain significance | 1810521873 | RCV001221049; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965497 | 90965497 | | | 8:g.90965497G>A | - | | |
NM_002485.5(NBN):c.1818A>G (p.Glu606=) | 4683 | NBN | Likely benign | -1 | RCV002801218; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965499 | 90965499 | | | | - | | |
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys) | 4683 | NBN | Uncertain significance | 774324419 | RCV000166446|RCV000586042|RCV000636773; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965501 | 90965501 | | | 8:g.90965501C>T | ClinGen:CA195896 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1812T>A (p.Ser604Arg) | 4683 | NBN | Uncertain significance | -1 | RCV002295894; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965505 | 90965505 | | | 90965505 | - | | |
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 192236678 | RCV000164543|RCV000424535|RCV000589243|RCV001030565|RCV001081367|RCV001357000; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C00061 | 8 | 90965508 | 90965508 | | | 8:g.90965508G>T | ClinGen:CA191232 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1809C>T (p.Phe603=) | 4683 | NBN | Likely benign | -1 | RCV002823720; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965508 | 90965508 | | | | - | | |
NM_002485.5(NBN):c.1808T>G (p.Phe603Cys) | 4683 | NBN | Uncertain significance | 1810522468 | RCV002248032|RCV003093988|RCV002409626; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965509 | 90965509 | | | 90965509 | - | | |
NM_002485.5(NBN):c.1806T>A (p.Thr602=) | 4683 | NBN | Likely benign | 1477618624 | RCV001431654; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965511 | 90965511 | | | 90965511 | - | | |
NM_002485.5(NBN):c.1805C>G (p.Thr602Ser) | 4683 | NBN | Uncertain significance | 1563524801 | RCV001351644; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965512 | 90965512 | | | NC_000008.10:g.90965512G>C | - | | |
NM_002485.5(NBN):c.1805C>T (p.Thr602Ile) | 4683 | NBN | Uncertain significance | 1563524801 | RCV001013242|RCV001314073; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965512 | 90965512 | | | 8:g.90965512G>A | - | | |
NM_002485.5(NBN):c.1803C>G (p.Asp601Glu) | 4683 | NBN | Uncertain significance | 2129696348 | RCV001948545; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965514 | 90965514 | | | 90965514 | - | | |
NM_002485.5(NBN):c.1802A>G (p.Asp601Gly) | 4683 | NBN | Conflicting interpretations of pathogenicity | 553571469 | RCV001217851|RCV002411808; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965515 | 90965515 | | | 8:g.90965515T>C | - | | |
NM_002485.5(NBN):c.1797A>G (p.Thr599=) | 4683 | NBN | Likely benign | 1810523208 | RCV001200309|RCV002069293; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965520 | 90965520 | | | 8:g.90965520T>C | - | | |
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg) | 4683 | NBN | Conflicting interpretations of pathogenicity | 775848374 | RCV000215909|RCV000534730|RCV003153514; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500 | 8 | 90965521 | 90965521 | | | 8:g.90965521G>C | ClinGen:CA4802684 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1796C>T (p.Thr599Ile) | 4683 | NBN | Uncertain significance | 775848374 | RCV000797402; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965521 | 90965521 | | | 8:g.90965521G>A | - | | |
NM_002485.5(NBN):c.1795A>G (p.Thr599Ala) | 4683 | NBN | Uncertain significance | 878854507 | RCV000229725; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965522 | 90965522 | | | 8:g.90965522T>C | ClinGen:CA10582594 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1791A>G (p.Ile597Met) | 4683 | NBN | Uncertain significance | 1810523727 | RCV001348627|RCV001751680; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN517202 | 8 | 90965526 | 90965526 | | | 90965526 | - | | |
NM_002485.5(NBN):c.1789A>G (p.Ile597Val) | 4683 | NBN | Uncertain significance | 864622167 | RCV000205939|RCV001183452; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965528 | 90965528 | | | 8:g.90965528T>C | ClinGen:CA350030 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1789A>T (p.Ile597Leu) | 4683 | NBN | Uncertain significance | 864622167 | RCV000772164|RCV001800869|RCV002282362; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965528 | 90965528 | | | NC_000008.10:g.90965528T>A | - | | |
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs) | 4683 | NBN | Pathogenic | 1586052851 | RCV000817780|RCV003166371; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965529 | 90965530 | | | 8:g.90965529_90965530insG | - | | |
NM_002485.5(NBN):c.1787A>T (p.Asp596Val) | 4683 | NBN | Uncertain significance | 1005715125 | RCV001013181|RCV001241999|RCV003238265; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965530 | 90965530 | | | 8:g.90965530T>A | - | | |
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly) | 4683 | NBN | Uncertain significance | 1005715125 | RCV001069753|RCV001759846|RCV002411609; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965530 | 90965530 | | | 8:g.90965530T>C | - | | |
NM_002485.5(NBN):c.1786G>A (p.Asp596Asn) | 4683 | NBN | Uncertain significance | 1467034784 | RCV001231153; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965531 | 90965531 | | | 8:g.90965531C>T | - | | |
NM_002485.5(NBN):c.1786G>C (p.Asp596His) | 4683 | NBN | Uncertain significance | 1467034784 | RCV001349814; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965531 | 90965531 | | | 90965531 | - | | |
NM_002485.5(NBN):c.1785G>A (p.Met595Ile) | 4683 | NBN | Uncertain significance | 1586052885 | RCV000815451; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965532 | 90965532 | | | 8:g.90965532C>T | - | | |
NM_002485.5(NBN):c.1783A>G (p.Met595Val) | 4683 | NBN | Uncertain significance | 2129696684 | RCV001770714|RCV002477943|RCV003289072; | N | MedGen:C3661900|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065, Orphanet:513; MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human P | 8 | 90965534 | 90965534 | | | 90965534 | - | | |
NM_002485.5(NBN):c.1782G>A (p.Arg594=) | 4683 | NBN | Likely benign | 1810524788 | RCV001493230; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965535 | 90965535 | | | 90965535 | - | | |
NM_002485.5(NBN):c.1780A>G (p.Arg594Gly) | 4683 | NBN | Uncertain significance | 1554558241 | RCV000580378|RCV001218433; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965537 | 90965537 | | | 8:g.90965537T>C | ClinGen:CA371655109 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1780del (p.Arg594fs) | 4683 | NBN | Pathogenic | 1586052920 | RCV000812953; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965537 | 90965537 | | | 8:g.90965537_90965537del | - | | |
NM_002485.5(NBN):c.1778_1779insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT | 4683 | NBN | Pathogenic | 2129696816 | RCV001390472; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965538 | 90965539 | | | 90965538 | - | | |
NM_002485.5(NBN):c.1779A>G (p.Pro593=) | 4683 | NBN | Likely benign | 2129696801 | RCV002078207; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965538 | 90965538 | | | 90965538 | - | | |
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) | 4683 | NBN | Conflicting interpretations of pathogenicity | 146989944 | RCV000115785|RCV000212750|RCV000656929|RCV000988083; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965540 | 90965540 | | | 8:g.90965540G>C | ClinGen:CA287910 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1777C>A (p.Pro593Thr) | 4683 | NBN | Uncertain significance | 146989944 | RCV001013108|RCV001827182; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965540 | 90965540 | | | 8:g.90965540G>T | - | | |
NM_002485.5(NBN):c.1776G>T (p.Arg592Ser) | 4683 | NBN | Uncertain significance | 1554558244 | RCV000558525; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965541 | 90965541 | | | NC_000008.10:g.90965541C>A | ClinGen:CA371655116 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1774A>G (p.Arg592Gly) | 4683 | NBN | Uncertain significance | 1554558245 | RCV000636776; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965543 | 90965543 | | | NC_000008.10:g.90965543T>C | ClinGen:CA371655121 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1770A>T (p.Arg590Ser) | 4683 | NBN | Uncertain significance | 1586053003 | RCV000824343|RCV002397743; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965547 | 90965547 | | | 8:g.90965547T>A | - | | |
NM_002485.5(NBN):c.1770A>G (p.Arg590=) | 4683 | NBN | Likely benign | 1586053003 | RCV001500139; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965547 | 90965547 | | | 8:g.90965547T>C | - | | |
NM_002485.5(NBN):c.1769del (p.Arg590fs) | 4683 | NBN | Pathogenic | 1563525004 | RCV000694299|RCV002397412; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965548 | 90965548 | | | NC_000008.10:g.90965548del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1769G>C (p.Arg590Thr) | 4683 | NBN | Uncertain significance | 1563524967 | RCV000781640|RCV001873193; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965548 | 90965548 | | | NC_000008.10:g.90965548C>G | - | | |
NM_002485.5(NBN):c.1769G>A (p.Arg590Lys) | 4683 | NBN | Uncertain significance | -1 | RCV003033998; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965548 | 90965548 | | | NC_000008.10:g.90965548C>T | - | | |
NM_002485.5(NBN):c.1767del (p.Arg590fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002308284; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965550 | 90965550 | | | 90965549 | - | | |
NM_002485.5(NBN):c.1764T>C (p.Asn588=) | 4683 | NBN | Likely benign | 1554558253 | RCV000569822|RCV001452957; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965553 | 90965553 | | | NC_000008.10:g.90965553A>G | ClinGen:CA462114572 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) | 4683 | NBN | Uncertain significance | 876658681 | RCV000218049|RCV000545718|RCV001264445|RCV001562276|RCV003469009; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90965554 | 90965554 | | | 8:g.90965554T>C | ClinGen:CA10578753 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1761C>T (p.Val587=) | 4683 | NBN | Likely benign | 769773789 | RCV000225830|RCV000570387|RCV001705258|RCV003226262; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374 | 8 | 90965556 | 90965556 | | | NC_000008.10:g.90965556G>A | ClinGen:CA10582595 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1700_1760dup (p.Val587_Asn588insGlnGlyHisLysThrArgValArgAsnTer) | 4683 | NBN | Pathogenic | 1810527499 | RCV001204074; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965556 | 90965557 | | | 8:g.90965556_90965557insACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGA | - | | |
NM_002485.5(NBN):c.1759G>A (p.Val587Ile) | 4683 | NBN | Uncertain significance | 1586053076 | RCV000814255; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965558 | 90965558 | | | 8:g.90965558C>T | - | | |
NM_002485.5(NBN):c.1757A>G (p.Asp586Gly) | 4683 | NBN | Uncertain significance | 1810527909 | RCV001349456; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965560 | 90965560 | | | 8:g.90965560T>C | - | | |
NM_002485.5(NBN):c.1757A>T (p.Asp586Val) | 4683 | NBN | Uncertain significance | 1810527909 | RCV002007658; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965560 | 90965560 | | | 90965560 | - | | |
NM_002485.5(NBN):c.1756G>C (p.Asp586His) | 4683 | NBN | Uncertain significance | 786202588 | RCV000165470|RCV001221587; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965561 | 90965561 | | | 8:g.90965561C>G | ClinGen:CA193486 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1755A>G (p.Glu585=) | 4683 | NBN | Likely benign | -1 | RCV003084875; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965562 | 90965562 | | | | - | | |
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) | 4683 | NBN | Conflicting interpretations of pathogenicity | 763926389 | RCV000461649|RCV000567576|RCV000679454|RCV001358087|RCV002282161|RCV002475888; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,Med | 8 | 90965563 | 90965563 | | | NC_000008.10:g.90965563T>C | ClinGen:CA4802685 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1749GGA[1] (p.Glu585del) | 4683 | NBN | Uncertain significance | 1554558265 | RCV000669632|RCV002406510; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965563 | 90965565 | | | 8:g.90965563_90965565del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1752G>C (p.Glu584Asp) | 4683 | NBN | Uncertain significance | 1554558267 | RCV000533101; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965565 | 90965565 | | | NC_000008.10:g.90965565C>G | ClinGen:CA371655171 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1752G>A (p.Glu584=) | 4683 | NBN | Likely benign | 1554558267 | RCV001423095; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965565 | 90965565 | | | 90965565 | - | | |
NM_002485.5(NBN):c.1750G>T (p.Glu584Ter) | 4683 | NBN | Pathogenic | 1554558270 | RCV000636737; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965567 | 90965567 | | | NC_000008.10:g.90965567C>A | ClinGen:CA371655176 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1747dup (p.Gln583fs) | 4683 | NBN | Pathogenic | 1810529464 | RCV001218804; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965569 | 90965570 | | | 8:g.90965569_90965570insG | - | | |
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 864622143 | RCV000217030|RCV000206506|RCV001753608|RCV002478725|RCV003468931; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotyp | 8 | 90965570 | 90965570 | | | 8:g.90965570G>A | ClinGen:CA350525 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1746A>G (p.Lys582=) | 4683 | NBN | Likely benign | 1586053134 | RCV001012991|RCV001411561; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965571 | 90965571 | | | 8:g.90965571T>C | - | | |
NM_002485.5(NBN):c.1743A>G (p.Gln581=) | 4683 | NBN | Likely benign | 2129697558 | RCV002154017; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965574 | 90965574 | | | 90965574 | - | | |
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1337679118 | RCV001204081|RCV002411748|RCV003473744; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965576 | 90965576 | | | 8:g.90965576G>A | - | | |
NM_002485.5(NBN):c.1739T>G (p.Val580Gly) | 4683 | NBN | Uncertain significance | 2129697638 | RCV002398019|RCV001997683; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965578 | 90965578 | | | 90965578 | - | | |
NM_002485.5(NBN):c.1738G>A (p.Val580Ile) | 4683 | NBN | Uncertain significance | 878854506 | RCV000232061; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965579 | 90965579 | | | 8:g.90965579C>T | ClinGen:CA10582596 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1738G>T (p.Val580Phe) | 4683 | NBN | Uncertain significance | 878854506 | RCV001248151; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965579 | 90965579 | | | 8:g.90965579C>A | - | | |
NM_002485.5(NBN):c.1737del (p.Val580fs) | 4683 | NBN | Pathogenic | 1563525210 | RCV000697515; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965580 | 90965580 | | | NC_000008.10:g.90965582del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1737A>G (p.Lys579=) | 4683 | NBN | Likely benign | 753582962 | RCV002535533; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965580 | 90965580 | | | NC_000008.10:g.90965580T>C | - | | |
NM_002485.5(NBN):c.1735A>G (p.Lys579Glu) | 4683 | NBN | Uncertain significance | 993110145 | RCV000557188|RCV000777261; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965582 | 90965582 | | | NC_000008.10:g.90965582T>C | ClinGen:CA181257688 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1735A>C (p.Lys579Gln) | 4683 | NBN | Uncertain significance | 993110145 | RCV000636780|RCV002404779; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965582 | 90965582 | | | NC_000008.10:g.90965582T>G | ClinGen:CA371655212 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1733T>C (p.Val578Ala) | 4683 | NBN | Uncertain significance | -1 | RCV002797182; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965584 | 90965584 | | | NC_000008.10:g.90965584A>G | - | | |
NM_002485.5(NBN):c.1732G>T (p.Val578Leu) | 4683 | NBN | Uncertain significance | 1554558284 | RCV000571489|RCV001340530; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965585 | 90965585 | | | 8:g.90965585C>A | ClinGen:CA371655216 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1731T>C (p.Asp577=) | 4683 | NBN | Likely benign | 2129697808 | RCV002120597; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965586 | 90965586 | | | 90965586 | - | | |
NM_002485.5(NBN):c.1731T>G (p.Asp577Glu) | 4683 | NBN | Uncertain significance | -1 | RCV002796287; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965586 | 90965586 | | | NC_000008.10:g.90965586A>C | - | | |
NM_002485.5(NBN):c.1730A>T (p.Asp577Val) | 4683 | NBN | Uncertain significance | 1341969209 | RCV001236947|RCV003353243; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965587 | 90965587 | | | 8:g.90965587T>A | - | | |
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) | 4683 | NBN | Uncertain significance | 587781881 | RCV000130210|RCV000199051|RCV000589088|RCV000499428|RCV003474761; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90965588 | 90965588 | | | 8:g.90965588C>A | ClinGen:CA165950 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1727T>C (p.Ile576Thr) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1255733657 | RCV001248747|RCV002402794; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965590 | 90965590 | | | 8:g.90965590A>G | - | | |
NM_002485.5(NBN):c.1727T>G (p.Ile576Ser) | 4683 | NBN | Uncertain significance | 1255733657 | RCV001986667; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965590 | 90965590 | | | 90965590 | - | | |
NM_002485.5(NBN):c.1726del (p.Ile576fs) | 4683 | NBN | Pathogenic | -1 | RCV002999521; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965591 | 90965591 | | | NC_000008.10:g.90965593del | - | | |
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 786201745 | RCV000164194|RCV000456402|RCV003462127; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965594 | 90965594 | | | 8:g.90965594C>A | ClinGen:CA190280 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) | 4683 | NBN | Conflicting interpretations of pathogenicity | 142334798 | RCV000115784|RCV000121614|RCV000123208|RCV000587365|RCV001354070; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90965597 | 90965597 | | | 8:g.90965597A>T | ClinGen:CA160969,UniProtKB:O60934#VAR_025803 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1720T>G (p.Leu574Val) | 4683 | NBN | Uncertain significance | 142334798 | RCV000216186|RCV001228729; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965597 | 90965597 | | | 8:g.90965597A>C | ClinGen:CA10578754 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1719G>A (p.Glu573=) | 4683 | NBN | Likely benign | 1586053258 | RCV001012865|RCV002068861; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965598 | 90965598 | | | 8:g.90965598C>T | - | | |
NM_002485.5(NBN):c.1719G>T (p.Glu573Asp) | 4683 | NBN | Uncertain significance | 1586053258 | RCV002024540; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965598 | 90965598 | | | 90965598 | - | | |
NM_002485.5(NBN):c.1716dup (p.Glu573fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1060503483 | RCV000468647|RCV000481568|RCV000582798|RCV003470491; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965600 | 90965601 | | | NC_000008.10:g.90965601dup | ClinGen:CA16612533 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1717G>C (p.Glu573Gln) | 4683 | NBN | Uncertain significance | 2129697994 | RCV001967299; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965600 | 90965600 | | | 90965600 | - | | |
NM_002485.5(NBN):c.1716A>C (p.Pro572=) | 4683 | NBN | Likely benign | 1586053267 | RCV001430601; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965601 | 90965601 | | | 8:g.90965601T>G | - | | |
NM_002485.5(NBN):c.1716A>G (p.Pro572=) | 4683 | NBN | Likely benign | 1586053267 | RCV001012823|RCV001469159; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965601 | 90965601 | | | 8:g.90965601T>C | - | | |
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu) | 4683 | NBN | Uncertain significance | 1554558303 | RCV000636718|RCV001525100|RCV002464275; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90965602 | 90965602 | | | NC_000008.10:g.90965602G>A | ClinGen:CA371655253 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1714C>T (p.Pro572Ser) | 4683 | NBN | Uncertain significance | 749918573 | RCV000636724|RCV002404777; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965603 | 90965603 | | | NC_000008.10:g.90965603G>A | ClinGen:CA4802687 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1713A>G (p.Lys571=) | 4683 | NBN | Likely benign | 2129698120 | RCV002103276|RCV002398217; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965604 | 90965604 | | | 90965604 | - | | |
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu) | 4683 | NBN | Uncertain significance | 587780090 | RCV000115783|RCV000216588|RCV000685440; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965606 | 90965606 | | | 8:g.90965606T>C | ClinGen:CA287907 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1710A>G (p.Thr570=) | 4683 | NBN | Likely benign | 1586053313 | RCV001409997; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965607 | 90965607 | | | 8:g.90965607T>C | - | | |
NM_002485.5(NBN):c.1708A>G (p.Thr570Ala) | 4683 | NBN | Uncertain significance | 730881854 | RCV000160792|RCV000531700|RCV000576135; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965609 | 90965609 | | | NC_000008.10:g.90965609T>C | ClinGen:CA299624 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1707C>T (p.Asp569=) | 4683 | NBN | Likely benign | 1057522522 | RCV000418003|RCV001408340|RCV002402177; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965610 | 90965610 | | | 8:g.90965610G>A | ClinGen:CA16606146 | CN169374 not specified; | |
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly) | 4683 | NBN | Uncertain significance | -1 | RCV002600059|RCV003465979; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965611 | 90965611 | | | NC_000008.10:g.90965611T>C | - | | |
NM_002485.5(NBN):c.1703A>G (p.Lys568Arg) | 4683 | NBN | Uncertain significance | 1488036998 | RCV000636745|RCV001012784|RCV001591419; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90965614 | 90965614 | | | NC_000008.10:g.90965614T>C | ClinGen:CA371655281 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1702A>G (p.Lys568Glu) | 4683 | NBN | Uncertain significance | -1 | RCV003043794; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965615 | 90965615 | | | NC_000008.10:g.90965615T>C | - | | |
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 730881853 | RCV000160791|RCV000771478|RCV001800471; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965616 | 90965616 | | | NC_000008.10:g.90965616G>C | ClinGen:CA299621 | CN169374 not specified; | |
NM_002485.5(NBN):c.1701C>T (p.Phe567=) | 4683 | NBN | Likely benign | 730881853 | RCV000566786|RCV002060521; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965616 | 90965616 | | | NC_000008.10:g.90965616G>A | ClinGen:CA462114602 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1700T>G (p.Phe567Cys) | 4683 | NBN | Uncertain significance | 980167139 | RCV000636747|RCV000775111; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965617 | 90965617 | | | 8:g.90965617A>C | ClinGen:CA181257789 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1699T>C (p.Phe567Leu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554558312 | RCV000563554|RCV000796112; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965618 | 90965618 | | | 8:g.90965618A>G | ClinGen:CA371655291 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs) | 4683 | NBN | Pathogenic | 1279184426 | RCV001388904|RCV002404905; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965618 | 90965619 | | | 90965618 | - | | |
NM_002485.5(NBN):c.1697dup (p.Leu566fs) | 4683 | NBN | Pathogenic | 1586053378 | RCV000815625; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965619 | 90965620 | | | 8:g.90965619_90965620insA | - | | |
NM_002485.5(NBN):c.1695G>A (p.Gln565=) | 4683 | NBN | Likely benign | 557356152 | RCV000567667|RCV000944336; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965622 | 90965622 | | | 8:g.90965622C>T | ClinGen:CA4802688 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1693C>T (p.Gln565Ter) | 4683 | NBN | Pathogenic | 1586053399 | RCV000792089; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965624 | 90965624 | | | 8:g.90965624G>A | - | | |
NM_002485.5(NBN):c.1693C>A (p.Gln565Lys) | 4683 | NBN | Uncertain significance | 1586053399 | RCV001313380; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965624 | 90965624 | | | 90965624 | - | | |
NM_002485.5(NBN):c.1692A>G (p.Glu564=) | 4683 | NBN | Likely benign | 2129698510 | RCV001409210; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965625 | 90965625 | | | 90965625 | - | | |
NM_002485.5(NBN):c.1691A>G (p.Glu564Gly) | 4683 | NBN | Uncertain significance | 1554558323 | RCV000555795|RCV002404414; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965626 | 90965626 | | | NC_000008.10:g.90965626T>C | ClinGen:CA371655310 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) | 4683 | NBN | Benign/Likely benign | 72550742 | RCV000129092|RCV000205604|RCV000212749|RCV000589500|RCV001356803; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90965627 | 90965627 | | | 8:g.90965627C>T | ClinGen:CA293957 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1689_1690del (p.Glu564fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002310361; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965627 | 90965628 | | | 90965626 | - | | |
NM_002485.5(NBN):c.1688T>C (p.Leu563Ser) | 4683 | NBN | Uncertain significance | 935736921 | RCV001213047; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965629 | 90965629 | | | 8:g.90965629A>G | - | | |
NM_002485.5(NBN):c.1687T>A (p.Leu563Met) | 4683 | NBN | Uncertain significance | 1466493008 | RCV001216933; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965630 | 90965630 | | | NC_000008.10:g.90965630A>T | - | | |
NM_002485.5(NBN):c.1687T>C (p.Leu563=) | 4683 | NBN | Likely benign | 1466493008 | RCV001408923; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965630 | 90965630 | | | 90965630 | - | | |
NM_002485.5(NBN):c.1685T>G (p.Val562Gly) | 4683 | NBN | Uncertain significance | 1060503455 | RCV000463767; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965632 | 90965632 | | | NC_000008.10:g.90965632A>C | ClinGen:CA16612535 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1684G>A (p.Val562Ile) | 4683 | NBN | Uncertain significance | 754651655 | RCV000575315|RCV000690804|RCV000679453; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965633 | 90965633 | | | NC_000008.10:g.90965633C>T | ClinGen:CA4802689 | C0027672 Hereditary cancer-predisposing syndrome; | |
NC_000008.10:g.(?_90965634)_(90971364_?)del | 4683 | NBN | Likely pathogenic | -1 | RCV002013587; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965634 | 90971364 | | | -1 | - | | |
NM_002485.5(NBN):c.1682A>C (p.Glu561Ala) | 4683 | NBN | Uncertain significance | 1586053460 | RCV000810168; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965635 | 90965635 | | | 8:g.90965635T>G | - | | |
NM_002485.5(NBN):c.1680T>A (p.Asp560Glu) | 4683 | NBN | Uncertain significance | 1810537339 | RCV001235406; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965637 | 90965637 | | | 8:g.90965637A>T | - | | |
NM_002485.5(NBN):c.1679A>G (p.Asp560Gly) | 4683 | NBN | Uncertain significance | 2129698759 | RCV001947149; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965638 | 90965638 | | | 90965638 | - | | |
NM_002485.5(NBN):c.1679A>T (p.Asp560Val) | 4683 | NBN | Uncertain significance | -1 | RCV002765694; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965638 | 90965638 | | | NC_000008.10:g.90965638T>A | - | | |
NM_002485.5(NBN):c.1675dup (p.Glu559fs) | 4683 | NBN | Pathogenic | 1563525678 | RCV000699746; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965641 | 90965642 | | | NC_000008.10:g.90965642dup | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1673T>A (p.Ile558Lys) | 4683 | NBN | Uncertain significance | 1810537849 | RCV001236330; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965644 | 90965644 | | | 8:g.90965644A>T | - | | |
NM_002485.5(NBN):c.1672A>G (p.Ile558Val) | 4683 | NBN | Uncertain significance | 876659451 | RCV000216080|RCV000465308; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965645 | 90965645 | | | 8:g.90965645T>C | ClinGen:CA10578755 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1672A>C (p.Ile558Leu) | 4683 | NBN | Uncertain significance | 876659451 | RCV000538636|RCV000566431; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965645 | 90965645 | | | NC_000008.10:g.90965645T>G | ClinGen:CA371655352 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1671C>A (p.Ala557=) | 4683 | NBN | Likely benign | 1057521670 | RCV000440274|RCV001452586; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965646 | 90965646 | | | 8:g.90965646G>T | ClinGen:CA16605424 | CN169374 not specified; | |
NM_002485.5(NBN):c.1671C>T (p.Ala557=) | 4683 | NBN | Likely benign | 1057521670 | RCV001012664|RCV001490124; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965646 | 90965646 | | | 8:g.90965646G>A | - | | |
NM_002485.5(NBN):c.1670C>G (p.Ala557Gly) | 4683 | NBN | Uncertain significance | 1286743873 | RCV000636733|RCV002404778; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965647 | 90965647 | | | NC_000008.10:g.90965647G>C | ClinGen:CA371655354 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1670C>T (p.Ala557Val) | 4683 | NBN | Uncertain significance | 1286743873 | RCV000688543|RCV002397380; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965647 | 90965647 | | | 8:g.90965647G>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1670C>A (p.Ala557Asp) | 4683 | NBN | Uncertain significance | -1 | RCV003076037; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965647 | 90965647 | | | NC_000008.10:g.90965647G>T | - | | |
NM_002485.5(NBN):c.1667T>A (p.Val556Glu) | 4683 | NBN | Uncertain significance | 558023830 | RCV000115782|RCV000212748|RCV000459014|RCV001328384|RCV001356139; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90965650 | 90965650 | | | 8:g.90965650A>T | ClinGen:CA287904 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1666G>A (p.Val556Met) | 4683 | NBN | Uncertain significance | 771567358 | RCV000636781|RCV000780527|RCV001292842|RCV002404780; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965651 | 90965651 | | | 8:g.90965651C>T | ClinGen:CA4802691 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1666G>T (p.Val556Leu) | 4683 | NBN | Uncertain significance | 771567358 | RCV000636784; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965651 | 90965651 | | | NC_000008.10:g.90965651C>A | ClinGen:CA4802692 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1665T>C (p.Asp555=) | 4683 | NBN | Likely benign | -1 | RCV002885999; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965652 | 90965652 | | | | - | | |
NM_002485.5(NBN):c.1642_1661del (p.Ser547_Asn548insTer) | 4683 | NBN | Pathogenic | 2129699105 | RCV002007299; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965656 | 90965675 | | | 90965655 | - | | |
NM_002485.5(NBN):c.1660G>T (p.Asp554Tyr) | 4683 | NBN | Uncertain significance | 1554558349 | RCV001860091; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965657 | 90965657 | | | 8:g.90965657C>A | ClinGen:CA371655376 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1660G>C (p.Asp554His) | 4683 | NBN | Uncertain significance | 1554558349 | RCV001568113|RCV001882671; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965657 | 90965657 | | | 90965657 | - | | |
NM_002485.5(NBN):c.1659G>A (p.Met553Ile) | 4683 | NBN | Conflicting interpretations of pathogenicity | 876659960 | RCV000213628|RCV000530341|RCV001658036|RCV001800566; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374 | 8 | 90965658 | 90965658 | | | 8:g.90965658C>T | ClinGen:CA10578756 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1657A>G (p.Met553Val) | 4683 | NBN | Uncertain significance | 746347634 | RCV000573104|RCV000636736|RCV000985868; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965660 | 90965660 | | | 8:g.90965660T>C | ClinGen:CA4802693 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1657A>T (p.Met553Leu) | 4683 | NBN | Uncertain significance | 746347634 | RCV000701373; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965660 | 90965660 | | | 8:g.90965660T>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1654dup (p.Glu552fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 760237820 | RCV000636767|RCV002388046|RCV003459521; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965662 | 90965663 | | | NC_000008.10:g.90965665dup | ClinGen:CA4802694 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln) | 4683 | NBN | Uncertain significance | 1064793213 | RCV000484053|RCV000554168|RCV001012604|RCV003470528; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965663 | 90965663 | | | 8:g.90965663C>G | ClinGen:CA16618700 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1653G>A (p.Arg551=) | 4683 | NBN | Likely benign | -1 | RCV002403696|RCV003097064; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965664 | 90965664 | | | | - | | |
NM_002485.5(NBN):c.1651dup (p.Arg551fs) | 4683 | NBN | Pathogenic | 766044684 | RCV000221563|RCV000472929|RCV000985867|RCV003469104; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965665 | 90965666 | | | 8:g.90965665_90965666insT | ClinGen:CA4802695 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1586053587 | RCV001191742|RCV001863040|RCV003469306; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965665 | 90965665 | | | 8:g.90965665C>T | - | | |
NM_002485.5(NBN):c.1647_1651del (p.Lys550fs) | 4683 | NBN | Pathogenic | 766044684 | RCV000458733; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965666 | 90965670 | | | NC_000008.10:g.90965668_90965672del | ClinGen:CA16612659 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 766044684 | RCV000564317|RCV000636742|RCV001764666|RCV002491128|RCV003465241; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90965666 | 90965669 | | | 8:g.90965666_90965669del | ClinGen:CA658657791 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1651A>G (p.Arg551Gly) | 4683 | NBN | Uncertain significance | 1810539994 | RCV001049849; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965666 | 90965666 | | | 8:g.90965666T>C | - | | |
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn) | 4683 | NBN | Uncertain significance | 1554558368 | RCV000572703|RCV000810849|RCV003441947|RCV003465201; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965667 | 90965667 | | | NC_000008.10:g.90965667T>G | ClinGen:CA371655400 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1649A>G (p.Lys550Arg) | 4683 | NBN | Uncertain significance | 2129699455 | RCV001764020|RCV001868603; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965668 | 90965668 | | | 90965668 | - | | |
NM_002485.5(NBN):c.1648A>G (p.Lys550Glu) | 4683 | NBN | Uncertain significance | 1468125809 | RCV000564900|RCV001858197; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965669 | 90965669 | | | NC_000008.10:g.90965669T>C | ClinGen:CA371655406 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1647A>G (p.Lys549=) | 4683 | NBN | Likely benign | 988523294 | RCV001185675|RCV001418053; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965670 | 90965670 | | | 8:g.90965670T>C | - | | |
NM_002485.5(NBN):c.1646A>T (p.Lys549Ile) | 4683 | NBN | Uncertain significance | -1 | RCV002785911; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965671 | 90965671 | | | NC_000008.10:g.90965671T>A | - | | |
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter) | 4683 | NBN | Pathogenic | 1810540992 | RCV001060946|RCV001270950|RCV002402432|RCV003473674; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965672 | 90965672 | | | 8:g.90965672T>A | - | | |
NM_002485.5(NBN):c.1645A>G (p.Lys549Glu) | 4683 | NBN | Uncertain significance | 1810540992 | RCV001299173|RCV002402830; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965672 | 90965672 | | | 90965672 | - | | |
NM_002485.5(NBN):c.1644dup (p.Lys549Ter) | 4683 | NBN | Pathogenic | 2129699596 | RCV001890438; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965672 | 90965673 | | | 90965672 | - | | |
NM_002485.5(NBN):c.1642A>C (p.Asn548His) | 4683 | NBN | Uncertain significance | 772234785 | RCV000636719; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965675 | 90965675 | | | 8:g.90965675T>G | ClinGen:CA371655421 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1642A>G (p.Asn548Asp) | 4683 | NBN | Uncertain significance | 772234785 | RCV000801779|RCV001012541; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965675 | 90965675 | | | 8:g.90965675T>C | - | | |
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer) | 4683 | NBN | Pathogenic/Likely pathogenic | 776417262 | RCV000412165|RCV002402097; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965677 | 90965677 | | | NC_000008.10:g.90965677del | ClinGen:CA4802697 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1640C>A (p.Ser547Ter) | 4683 | NBN | Likely pathogenic | -1 | RCV002308431; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965677 | 90965677 | | | 90965677 | - | | |
NM_002485.5(NBN):c.1637G>C (p.Arg546Thr) | 4683 | NBN | Uncertain significance | 1360502904 | RCV000636709|RCV002388043; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965680 | 90965680 | | | NC_000008.10:g.90965680C>G | ClinGen:CA371655431 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1636A>G (p.Arg546Gly) | 4683 | NBN | Uncertain significance | -1 | RCV002837974; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965681 | 90965681 | | | NC_000008.10:g.90965681T>C | - | | |
NM_002485.5(NBN):c.1635A>G (p.Leu545=) | 4683 | NBN | Likely benign | 1353578845 | RCV001419612; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965682 | 90965682 | | | NC_000008.10:g.90965682T>C | - | | |
NM_002485.5(NBN):c.1622_1634del (p.Ala541fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002306572; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965683 | 90965695 | | | 90965682 | - | | |
NM_002485.5(NBN):c.1631A>G (p.Lys544Arg) | 4683 | NBN | Uncertain significance | 2129699796 | RCV001994955; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965686 | 90965686 | | | 90965686 | - | | |
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly) | 4683 | NBN | Uncertain significance | 587781624 | RCV000129722|RCV000781639|RCV001800429; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965689 | 90965689 | | | 8:g.90965689T>C | ClinGen:CA164976 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1628A>C (p.Glu543Ala) | 4683 | NBN | Uncertain significance | 587781624 | RCV000814543; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965689 | 90965689 | | | 8:g.90965689T>G | - | | |
NM_002485.5(NBN):c.1626A>G (p.Ala542=) | 4683 | NBN | Likely benign | 1563526123 | RCV001490165; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965691 | 90965691 | | | 8:g.90965691T>C | - | | |
NM_002485.5(NBN):c.1625C>T (p.Ala542Val) | 4683 | NBN | Uncertain significance | 760911186 | RCV000792579|RCV002397566; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965692 | 90965692 | | | 8:g.90965692G>A | - | | |
NM_002485.5(NBN):c.1624_1625delinsTT (p.Ala542Leu) | 4683 | NBN | Uncertain significance | 2129699919 | RCV001361493; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965692 | 90965693 | | | 90965692 | - | | |
NM_002485.5(NBN):c.1624G>T (p.Ala542Ser) | 4683 | NBN | Uncertain significance | 764263689 | RCV001348753; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965693 | 90965693 | | | 90965693 | - | | |
NM_002485.5(NBN):c.1623T>C (p.Ala541=) | 4683 | NBN | Likely benign | 1209398379 | RCV000772358|RCV000931424; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965694 | 90965694 | | | NC_000008.10:g.90965694A>G | - | | |
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly) | 4683 | NBN | Uncertain significance | 876658501 | RCV000216784|RCV000460642|RCV003468996; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965695 | 90965695 | | | 8:g.90965695G>C | ClinGen:CA10578757 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1622C>T (p.Ala541Val) | 4683 | NBN | Uncertain significance | 876658501 | RCV000687714|RCV001805803|RCV003465562; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965695 | 90965695 | | | NC_000008.10:g.90965695G>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1621G>A (p.Ala541Thr) | 4683 | NBN | Uncertain significance | -1 | RCV003035347; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965696 | 90965696 | | | NC_000008.10:g.90965696C>T | - | | |
NM_002485.5(NBN):c.1619A>G (p.His540Arg) | 4683 | NBN | Uncertain significance | 730881852 | RCV000160790|RCV000204344|RCV000771330; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965698 | 90965698 | | | NC_000008.10:g.90965698T>C | ClinGen:CA299618 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1619A>T (p.His540Leu) | 4683 | NBN | Uncertain significance | -1 | RCV002299937; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965698 | 90965698 | | | 90965698 | - | | |
NM_002485.5(NBN):c.1618C>T (p.His540Tyr) | 4683 | NBN | Uncertain significance | 1554558393 | RCV000541863|RCV000583564; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965699 | 90965699 | | | NC_000008.10:g.90965699G>A | ClinGen:CA371655467 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1616C>G (p.Ser539Cys) | 4683 | NBN | Uncertain significance | 768431216 | RCV000686615|RCV001525020; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965701 | 90965701 | | | NC_000008.10:g.90965701G>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1613A>T (p.Lys538Ile) | 4683 | NBN | Uncertain significance | 1810545480 | RCV001227109; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965704 | 90965704 | | | 8:g.90965704T>A | - | | |
NM_002485.5(NBN):c.1612A>G (p.Lys538Glu) | 4683 | NBN | Uncertain significance | 2129700125 | RCV001993993; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965705 | 90965705 | | | 90965705 | - | | |
NM_002485.5(NBN):c.1609A>G (p.Ser537Gly) | 4683 | NBN | Uncertain significance | 1810545673 | RCV001320319; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965708 | 90965708 | | | 90965708 | - | | |
NM_002485.5(NBN):c.1603T>G (p.Ser535Ala) | 4683 | NBN | Uncertain significance | 1563526265 | RCV000780525|RCV001873187|RCV002397557; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965714 | 90965714 | | | NC_000008.10:g.90965714A>C | - | | |
NM_002485.5(NBN):c.1601A>G (p.Asn534Ser) | 4683 | NBN | Uncertain significance | -1 | RCV003011934; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965716 | 90965716 | | | NC_000008.10:g.90965716T>C | - | | |
NM_002485.5(NBN):c.1599A>G (p.Lys533=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 2129700342 | RCV001944815|RCV002397806; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965718 | 90965718 | | | 90965718 | - | | |
NM_002485.5(NBN):c.1598A>G (p.Lys533Arg) | 4683 | NBN | Uncertain significance | -1 | RCV002923653|RCV003229100; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN517202 | 8 | 90965719 | 90965719 | | | NC_000008.10:g.90965719T>C | - | | |
NM_002485.5(NBN):c.1581_1597del (p.Asp527fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002308154; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965720 | 90965736 | | | 90965719 | - | | |
NM_002485.5(NBN):c.1594G>A (p.Val532Met) | 4683 | NBN | Uncertain significance | 545435120 | RCV000484172|RCV000550537|RCV001012314; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965723 | 90965723 | | | 8:g.90965723C>T | ClinGen:CA4802701 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1594G>T (p.Val532Leu) | 4683 | NBN | Uncertain significance | 545435120 | RCV000524734|RCV001012316|RCV001293999; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965723 | 90965723 | | | 8:g.90965723C>A | ClinGen:CA181257898 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1592T>C (p.Ile531Thr) | 4683 | NBN | Uncertain significance | 2129700486 | RCV001969145|RCV002398027; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965725 | 90965725 | | | 90965725 | - | | |
NM_002485.5(NBN):c.1591A>G (p.Ile531Val) | 4683 | NBN | Uncertain significance | 587782330 | RCV000131247|RCV000542468|RCV001357760|RCV001778752; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374 | 8 | 90965726 | 90965726 | | | 8:g.90965726T>C | ClinGen:CA167864 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1589C>G (p.Ser530Cys) | 4683 | NBN | Uncertain significance | 920311188 | RCV002560035; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965728 | 90965728 | | | 8:g.90965728G>C | - | | |
NM_002485.5(NBN):c.1587dup (p.Ser530fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1057516332 | RCV000410169; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965729 | 90965730 | | | NC_000008.10:g.90965733dup | ClinGen:CA16041207 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1588T>C (p.Ser530Pro) | 4683 | NBN | Uncertain significance | 1554558401 | RCV000508363|RCV000705237; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965729 | 90965729 | | | NC_000008.10:g.90965729A>G | ClinGen:CA371655530 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1587A>G (p.Lys529=) | 4683 | NBN | Likely benign | 1057521983 | RCV000433784|RCV001500150; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965730 | 90965730 | | | 8:g.90965730T>C | ClinGen:CA16605510 | CN169374 not specified; | |
NM_002485.5(NBN):c.1583T>G (p.Leu528Ter) | 4683 | NBN | Pathogenic | 2129700612 | RCV001908318; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965734 | 90965734 | | | 90965734 | - | | |
NM_002485.5(NBN):c.1583T>C (p.Leu528Ser) | 4683 | NBN | Uncertain significance | -1 | RCV003028552; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965734 | 90965734 | | | NC_000008.10:g.90965734A>G | - | | |
NM_002485.5(NBN):c.1583T>A (p.Leu528Ter) | 4683 | NBN | Pathogenic | -1 | RCV003032194; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965734 | 90965734 | | | NC_000008.10:g.90965734A>T | - | | |
NM_002485.5(NBN):c.1582T>A (p.Leu528Ile) | 4683 | NBN | Uncertain significance | 2129700664 | RCV001374262; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965735 | 90965735 | | | 90965735 | - | | |
NM_002485.5(NBN):c.1582T>C (p.Leu528=) | 4683 | NBN | Likely benign | 2129700664 | RCV001454371; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965735 | 90965735 | | | 90965735 | - | | |
NM_002485.5(NBN):c.1581T>G (p.Asp527Glu) | 4683 | NBN | Uncertain significance | 1586053893 | RCV000797531; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965736 | 90965736 | | | 8:g.90965736A>C | - | | |
NM_002485.5(NBN):c.1580A>T (p.Asp527Val) | 4683 | NBN | Uncertain significance | 1554558407 | RCV000525608|RCV001012254|RCV003459220; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965737 | 90965737 | | | NC_000008.10:g.90965737T>A | ClinGen:CA371655549 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1580A>G (p.Asp527Gly) | 4683 | NBN | Uncertain significance | 1554558407 | RCV002258601|RCV003101426; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965737 | 90965737 | | | 90965737 | - | | |
NM_002485.5(NBN):c.1578A>G (p.Thr526=) | 4683 | NBN | Likely benign | 2129700754 | RCV002091660; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965739 | 90965739 | | | 90965739 | - | | |
NM_002485.5(NBN):c.1577C>G (p.Thr526Arg) | 4683 | NBN | Uncertain significance | -1 | RCV002913966; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965740 | 90965740 | | | NC_000008.10:g.90965740G>C | - | | |
NM_002485.5(NBN):c.1575T>A (p.Asp525Glu) | 4683 | NBN | Uncertain significance | 587782150 | RCV000130718|RCV001338002; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965742 | 90965742 | | | 8:g.90965742A>T | ClinGen:CA166976 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1573G>A (p.Asp525Asn) | 4683 | NBN | Uncertain significance | -1 | RCV002685536; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965744 | 90965744 | | | NC_000008.10:g.90965744C>T | - | | |
NM_002485.5(NBN):c.1571C>T (p.Thr524Ile) | 4683 | NBN | Uncertain significance | 2129700864 | RCV001894274|RCV002397791; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965746 | 90965746 | | | 90965746 | - | | |
NM_002485.5(NBN):c.1570A>G (p.Thr524Ala) | 4683 | NBN | Uncertain significance | 1292640945 | RCV000549479|RCV000561811; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965747 | 90965747 | | | NC_000008.10:g.90965747T>C | ClinGen:CA371655571 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1566_1568del (p.Leu522del) | 4683 | NBN | Uncertain significance | -1 | RCV002991753; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965749 | 90965751 | | | NC_000008.10:g.90965751_90965753del | - | | |
NM_002485.5(NBN):c.1566A>T (p.Leu522Phe) | 4683 | NBN | Uncertain significance | -1 | RCV002295244; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965751 | 90965751 | | | 90965751 | - | | |
NM_002485.5(NBN):c.1562_1564dup (p.Asn521_Leu522insTyr) | 4683 | NBN | Uncertain significance | 1810549229 | RCV001037286; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965752 | 90965753 | | | 8:g.90965752_90965753insAGT | - | | |
NM_002485.5(NBN):c.1564T>G (p.Leu522Val) | 4683 | NBN | Uncertain significance | 2129700928 | RCV002049421; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965753 | 90965753 | | | 90965753 | - | | |
NM_002485.5(NBN):c.1563C>T (p.Asn521=) | 4683 | NBN | Likely benign | 765959451 | RCV000567912|RCV001480145|RCV001697387; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965754 | 90965754 | | | 8:g.90965754G>A | ClinGen:CA4802703 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1560T>C (p.Asn520=) | 4683 | NBN | Likely benign | 2129701011 | RCV001436536; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965757 | 90965757 | | | 90965757 | - | | |
NM_002485.5(NBN):c.1559A>G (p.Asn520Ser) | 4683 | NBN | Uncertain significance | 750981708 | RCV000200286|RCV000580918|RCV003324728; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90965758 | 90965758 | | | NC_000008.10:g.90965758T>C | ClinGen:CA339215 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1558A>G (p.Asn520Asp) | 4683 | NBN | Conflicting interpretations of pathogenicity | 944499155 | RCV000536553|RCV000573249; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965759 | 90965759 | | | NC_000008.10:g.90965759T>C | ClinGen:CA181257926 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1556A>T (p.Asp519Val) | 4683 | NBN | Uncertain significance | -1 | RCV002820787; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965761 | 90965761 | | | NC_000008.10:g.90965761T>A | - | | |
NM_002485.5(NBN):c.1556A>G (p.Asp519Gly) | 4683 | NBN | Uncertain significance | -1 | RCV003027943; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965761 | 90965761 | | | NC_000008.10:g.90965761T>C | - | | |
NM_002485.5(NBN):c.1554dup (p.Asp519fs) | 4683 | NBN | Pathogenic | 1554558423 | RCV000561057|RCV001858315; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965762 | 90965763 | | | NC_000008.10:g.90965763dup | ClinGen:CA658657795 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1554del (p.Asp519fs) | 4683 | NBN | Pathogenic | 2129701175 | RCV001383391; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965763 | 90965763 | | | 90965762 | - | | |
NM_002485.5(NBN):c.1554A>C (p.Ser518=) | 4683 | NBN | Likely benign | 2129701132 | RCV001503534; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965763 | 90965763 | | | 90965763 | - | | |
NM_002485.5(NBN):c.1553C>G (p.Ser518Ter) | 4683 | NBN | Pathogenic | 1060503480 | RCV000473949; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965764 | 90965764 | | | NC_000008.10:g.90965764G>C | ClinGen:CA16612360 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1551C>T (p.Asn517=) | 4683 | NBN | Likely benign | 876658744 | RCV000220718|RCV001424134; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965766 | 90965766 | | | 8:g.90965766G>A | ClinGen:CA10578758 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1551C>A (p.Asn517Lys) | 4683 | NBN | Conflicting interpretations of pathogenicity | 876658744 | RCV001187829|RCV001323375; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965766 | 90965766 | | | 8:g.90965766G>T | - | | |
NM_002485.5(NBN):c.1549A>G (p.Asn517Asp) | 4683 | NBN | Uncertain significance | 1040315184 | RCV000475341|RCV001175824|RCV002293443; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90965768 | 90965768 | | | NC_000008.10:g.90965768T>C | ClinGen:CA16612475 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1547C>T (p.Thr516Ile) | 4683 | NBN | Uncertain significance | 754706758 | RCV001061291; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965770 | 90965770 | | | 8:g.90965770G>A | - | | |
NM_002485.5(NBN):c.1546A>G (p.Thr516Ala) | 4683 | NBN | Uncertain significance | 376653589 | RCV000985866|RCV001012047|RCV001060846; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965771 | 90965771 | | | 8:g.90965771T>C | - | | |
NM_002485.5(NBN):c.1538C>T (p.Pro513Leu) | 4683 | NBN | Uncertain significance | 1554558440 | RCV000560363; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965779 | 90965779 | | | 8:g.90965779G>A | ClinGen:CA371655638 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1537C>T (p.Pro513Ser) | 4683 | NBN | Uncertain significance | 1810551219 | RCV001045276|RCV002256656; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965780 | 90965780 | | | 8:g.90965780G>A | - | | |
NM_002485.5(NBN):c.1536G>A (p.Glu512=) | 4683 | NBN | Likely benign | 754267250 | RCV000925958|RCV002400028; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965781 | 90965781 | | | 8:g.90965781C>T | - | | |
NM_002485.5(NBN):c.1535A>G (p.Glu512Gly) | 4683 | NBN | Uncertain significance | 876659367 | RCV000218117|RCV002515640; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965782 | 90965782 | | | 8:g.90965782T>C | ClinGen:CA10578759 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1534G>C (p.Glu512Gln) | 4683 | NBN | Uncertain significance | 1554558445 | RCV000548104|RCV001012068; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965783 | 90965783 | | | NC_000008.10:g.90965783C>G | ClinGen:CA371655649 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1534G>A (p.Glu512Lys) | 4683 | NBN | Uncertain significance | 1554558445 | RCV001955147|RCV003475187; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965783 | 90965783 | | | 90965783 | - | | |
NM_002485.5(NBN):c.1533T>G (p.Asn511Lys) | 4683 | NBN | Uncertain significance | 587780776 | RCV000123207; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965784 | 90965784 | | | 8:g.90965784A>C | ClinGen:CA332816 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1533T>C (p.Asn511=) | 4683 | NBN | Likely benign | -1 | RCV002403011|RCV003100707; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965784 | 90965784 | | | | - | | |
NM_002485.5(NBN):c.1532A>C (p.Asn511Thr) | 4683 | NBN | Uncertain significance | 2129701658 | RCV002007938|RCV002398035; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965785 | 90965785 | | | 90965785 | - | | |
NM_002485.5(NBN):c.1531A>G (p.Asn511Asp) | 4683 | NBN | Uncertain significance | -1 | RCV002303693; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965786 | 90965786 | | | 90965786 | - | | |
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp) | 4683 | NBN | Uncertain significance | 1283330641 | RCV000636787|RCV001012033|RCV001535627|RCV001838014; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3469522; MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965787 | 90965787 | | | NC_000008.10:g.90965787C>G | ClinGen:CA371655659 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs) | 4683 | NBN | Likely pathogenic | 1554558449 | RCV000590402|RCV003459460; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965790 | 90965793 | | | NC_000008.10:g.90965790AGAT[1] | ClinGen:CA658683527 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer) | 4683 | NBN | Pathogenic | 1563526747 | RCV000686792; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965790 | 90965791 | | | 8:g.90965790_90965791insG | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1526C>A (p.Ser509Tyr) | 4683 | NBN | Uncertain significance | 1554558450 | RCV000535492|RCV000566294; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965791 | 90965791 | | | 8:g.90965791G>T | ClinGen:CA371655668 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1525T>C (p.Ser509Pro) | 4683 | NBN | Uncertain significance | 1810552588 | RCV001279846|RCV002393682; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965792 | 90965792 | | | 8:g.90965792A>G | - | | |
NM_002485.5(NBN):c.1525T>A (p.Ser509Thr) | 4683 | NBN | Uncertain significance | -1 | RCV003016760; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965792 | 90965792 | | | NC_000008.10:g.90965792A>T | - | | |
NM_002485.5(NBN):c.1524A>G (p.Leu508=) | 4683 | NBN | Likely benign | 1266314359 | RCV001181880|RCV002068300; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965793 | 90965793 | | | 8:g.90965793T>C | - | | |
NM_002485.5(NBN):c.1523dup (p.Ser509fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1586054199 | RCV001870904|RCV003164199|RCV003475133; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90965793 | 90965794 | | | 90965793 | - | | |
NM_002485.5(NBN):c.1524A>T (p.Leu508=) | 4683 | NBN | Likely benign | 1266314359 | RCV002189067; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965793 | 90965793 | | | 90965793 | - | | |
NM_002485.5(NBN):c.1521T>A (p.His507Gln) | 4683 | NBN | Uncertain significance | 1586054212 | RCV000811328|RCV001011969; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965796 | 90965796 | | | 8:g.90965796A>T | - | | |
NM_002485.5(NBN):c.1520A>G (p.His507Arg) | 4683 | NBN | Uncertain significance | 587782520 | RCV000131697|RCV000669514|RCV001561788; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965797 | 90965797 | | | 8:g.90965797T>C | ClinGen:CA168618 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1520A>C (p.His507Pro) | 4683 | NBN | Uncertain significance | 587782520 | RCV001219487; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965797 | 90965797 | | | 8:g.90965797T>G | - | | |
NM_002485.5(NBN):c.1519C>T (p.His507Tyr) | 4683 | NBN | Uncertain significance | 1554558456 | RCV000636735; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965798 | 90965798 | | | NC_000008.10:g.90965798G>A | ClinGen:CA371655681 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1516C>G (p.Gln506Glu) | 4683 | NBN | Uncertain significance | 876658535 | RCV000217177|RCV000471111|RCV001354368; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90965801 | 90965801 | | | 8:g.90965801G>C | ClinGen:CA10578760 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter) | 4683 | NBN | Pathogenic | 876658535 | RCV001227877|RCV003294092; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965801 | 90965801 | | | 8:g.90965801G>A | - | | |
NM_002485.5(NBN):c.1515del (p.Glu505fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 759232053 | RCV000564904|RCV000781642|RCV003227797|RCV003465242; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965802 | 90965802 | | | NC_000008.10:g.90965802del | ClinGen:CA4802707 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1515G>A (p.Glu505=) | 4683 | NBN | Likely benign | 2129702018 | RCV001483617|RCV003160956; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965802 | 90965802 | | | 90965802 | - | | |
NM_002485.5(NBN):c.1513G>A (p.Glu505Lys) | 4683 | NBN | Uncertain significance | 1810553632 | RCV001042538; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965804 | 90965804 | | | 8:g.90965804C>T | - | | |
NM_002485.5(NBN):c.1512G>A (p.Lys504=) | 4683 | NBN | Likely benign | -1 | RCV002900272; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965805 | 90965805 | | | | - | | |
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg) | 4683 | NBN | Uncertain significance | 757754183 | RCV000566537|RCV000815889; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965806 | 90965806 | | | 8:g.90965806T>C | ClinGen:CA4802708 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1509T>C (p.Asn503=) | 4683 | NBN | Likely benign | 876660751 | RCV000222671|RCV000609628|RCV000979738; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965808 | 90965808 | | | 8:g.90965808A>G | ClinGen:CA10578761 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1509T>G (p.Asn503Lys) | 4683 | NBN | Uncertain significance | 876660751 | RCV000565151|RCV000792565|RCV002225668; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965808 | 90965808 | | | NC_000008.10:g.90965808A>C | ClinGen:CA371655706 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1509T>A (p.Asn503Lys) | 4683 | NBN | Uncertain significance | 876660751 | RCV001296546; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965808 | 90965808 | | | 90965808 | - | | |
NM_002485.5(NBN):c.1503G>T (p.Trp501Cys) | 4683 | NBN | Uncertain significance | -1 | RCV003027946; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965814 | 90965814 | | | NC_000008.10:g.90965814C>A | - | | |
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554558472 | RCV000568444|RCV000657733|RCV001005050|RCV001388337; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965815 | 90965815 | | | 8:g.90965815C>T | ClinGen:CA371655727 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser) | 4683 | NBN | Uncertain significance | 1563526901 | RCV000684953|RCV001011907|RCV003465552; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965818 | 90965818 | | | 8:g.90965818A>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1498T>C (p.Leu500=) | 4683 | NBN | Likely benign | 779116935 | RCV001438278|RCV002396009; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965819 | 90965819 | | | 90965819 | - | | |
NM_002485.5(NBN):c.1497A>G (p.Ser499=) | 4683 | NBN | Likely benign | 774032674 | RCV001415133|RCV002395942; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965820 | 90965820 | | | 90965820 | - | | |
NM_002485.5(NBN):c.1496C>T (p.Ser499Leu) | 4683 | NBN | Uncertain significance | 772411713 | RCV000214461|RCV001306382; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965821 | 90965821 | | | 8:g.90965821G>A | ClinGen:CA4802711 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 772411713 | RCV001057404|RCV003467785; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965821 | 90965821 | | | 8:g.90965821G>C | - | | |
NM_002485.5(NBN):c.1496C>A (p.Ser499Ter) | 4683 | NBN | Pathogenic | 772411713 | RCV001387053; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965821 | 90965821 | | | 90965821 | - | | |
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro) | 4683 | NBN | Uncertain significance | 1554558483 | RCV000567802|RCV001049326|RCV001566497|RCV003476331; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965822 | 90965822 | | | NC_000008.10:g.90965822A>G | ClinGen:CA371655741 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1494C>T (p.Pro498=) | 4683 | NBN | Likely benign | 1554558484 | RCV001497416; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965823 | 90965823 | | | 8:g.90965823G>A | ClinGen:CA462114744 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1494C>G (p.Pro498=) | 4683 | NBN | Likely benign | 1554558484 | RCV001479619; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965823 | 90965823 | | | 8:g.90965823G>C | - | | |
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr) | 4683 | NBN | Uncertain significance | 915825113 | RCV001568147|RCV001832777; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965825 | 90965825 | | | 90965825 | - | | |
NM_002485.5(NBN):c.1490C>T (p.Thr497Ile) | 4683 | NBN | Uncertain significance | 1563527011 | RCV001856099; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965827 | 90965827 | | | NC_000008.10:g.90965827G>A | - | | |
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) | 4683 | NBN | Benign/Likely benign | 3026268 | RCV000121612|RCV000128985|RCV000759168|RCV001079822|RCV001354750|RCV002225382|RCV002498571|RCV003315761; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1 | 8 | 90965828 | 90965828 | | | 8:g.90965828T>C | ClinGen:CA160963,UniProtKB:O60934#VAR_025802 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1488T>C (p.Ala496=) | 4683 | NBN | Likely benign | 2129702580 | RCV001443762|RCV002396024; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965829 | 90965829 | | | 90965829 | - | | |
NM_002485.5(NBN):c.1488T>G (p.Ala496=) | 4683 | NBN | Likely benign | -1 | RCV002861553; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965829 | 90965829 | | | | - | | |
NM_002485.5(NBN):c.1487C>T (p.Ala496Val) | 4683 | NBN | Uncertain significance | 1586054406 | RCV000816943; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965830 | 90965830 | | | 8:g.90965830G>A | - | | |
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 764884516 | RCV000166379|RCV000482780|RCV000636722|RCV002485031|RCV003468782; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90965833 | 90965834 | | | 8:g.90965834_90965834del | ClinGen:CA195701 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) | 4683 | NBN | Uncertain significance | 863224714 | RCV000198393|RCV000223448|RCV000562638|RCV000781646|RCV003474960; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90965833 | 90965833 | | | NC_000008.10:g.90965833G>A | ClinGen:CA337891 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1484C>G (p.Pro495Arg) | 4683 | NBN | Uncertain significance | 863224714 | RCV000818907|RCV002390680; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965833 | 90965833 | | | 8:g.90965833G>C | - | | |
NM_002485.5(NBN):c.1483C>T (p.Pro495Ser) | 4683 | NBN | Uncertain significance | 747027298 | RCV000636740; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965834 | 90965834 | | | NC_000008.10:g.90965834G>A | ClinGen:CA371655760 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1481A>C (p.Gln494Pro) | 4683 | NBN | Uncertain significance | 1381248118 | RCV000580659|RCV001067525; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965836 | 90965836 | | | 8:g.90965836T>G | ClinGen:CA371655766 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1478_1481del (p.Thr493fs) | 4683 | NBN | Pathogenic | 1586054483 | RCV001233080|RCV002393580; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965836 | 90965839 | | | 8:g.90965836_90965839del | - | | |
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys) | 4683 | NBN | Uncertain significance | 587781557 | RCV000129575|RCV000636783; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965837 | 90965837 | | | 8:g.90965837G>T | ClinGen:CA164698 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1480C>T (p.Gln494Ter) | 4683 | NBN | Pathogenic | -1 | RCV002797046; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965837 | 90965837 | | | NC_000008.10:g.90965837G>A | - | | |
NM_002485.5(NBN):c.1479A>G (p.Thr493=) | 4683 | NBN | Likely benign | -1 | RCV002397077|RCV003100686; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965838 | 90965838 | | | | - | | |
NM_002485.5(NBN):c.1477A>G (p.Thr493Ala) | 4683 | NBN | Uncertain significance | 1810557417 | RCV001060662; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965840 | 90965840 | | | 8:g.90965840T>C | - | | |
NM_002485.5(NBN):c.1476A>C (p.Gln492His) | 4683 | NBN | Uncertain significance | 1382919150 | RCV000571802|RCV001343892; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965841 | 90965841 | | | NC_000008.10:g.90965841T>G | ClinGen:CA371655776 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1476A>G (p.Gln492=) | 4683 | NBN | Uncertain significance | 1382919150 | RCV002027286; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965841 | 90965841 | | | 90965841 | - | | |
NM_002485.5(NBN):c.1475A>G (p.Gln492Arg) | 4683 | NBN | Uncertain significance | 768883132 | RCV000576077|RCV001867862; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965842 | 90965842 | | | NC_000008.10:g.90965842T>C | ClinGen:CA4802714 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 587782130 | RCV000130673|RCV000480769|RCV000529643|RCV003467153; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965843 | 90965843 | | | 8:g.90965843G>A | ClinGen:CA166874 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1474C>A (p.Gln492Lys) | 4683 | NBN | Uncertain significance | 587782130 | RCV000213507|RCV000559007|RCV000732065; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965843 | 90965843 | | | 8:g.90965843G>T | ClinGen:CA10578762 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1473A>G (p.Glu491=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 2129702949 | RCV001955418|RCV002388895; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965844 | 90965844 | | | 90965844 | - | | |
NM_002485.5(NBN):c.1472A>G (p.Glu491Gly) | 4683 | NBN | Uncertain significance | 2129702971 | RCV001894221; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965845 | 90965845 | | | 90965845 | - | | |
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys) | 4683 | NBN | Uncertain significance | 776900339 | RCV000482670|RCV000546529|RCV002395149; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965846 | 90965846 | | | 8:g.90965846C>T | ClinGen:CA4802715 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1470A>C (p.Leu490Phe) | 4683 | NBN | Uncertain significance | 1447979380 | RCV000820960; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965847 | 90965847 | | | 8:g.90965847T>G | - | | |
NM_002485.5(NBN):c.1469T>C (p.Leu490Ser) | 4683 | NBN | Uncertain significance | 1586054565 | RCV001011733|RCV001043710; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965848 | 90965848 | | | 8:g.90965848A>G | - | | |
NM_002485.5(NBN):c.1466T>C (p.Leu489Pro) | 4683 | NBN | Uncertain significance | 2129703076 | RCV001926980; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965851 | 90965851 | | | 90965851 | - | | |
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) | 4683 | NBN | Conflicting interpretations of pathogenicity | 143948240 | RCV000164141|RCV000197233|RCV001354892|RCV003467286; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphane | 8 | 90965852 | 90965852 | | | 8:g.90965852G>C | ClinGen:CA190135 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1465C>T (p.Leu489Phe) | 4683 | NBN | Uncertain significance | 143948240 | RCV002035140; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965852 | 90965852 | | | 90965852 | - | | |
NM_002485.5(NBN):c.1464T>C (p.Ser488=) | 4683 | NBN | Likely benign | 2129703123 | RCV002106206; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965853 | 90965853 | | | 90965853 | - | | |
NM_002485.5(NBN):c.1463C>G (p.Ser488Cys) | 4683 | NBN | Uncertain significance | 1060503472 | RCV000473379|RCV001011702; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965854 | 90965854 | | | NC_000008.10:g.90965854G>C | ClinGen:CA16612477 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1463C>A (p.Ser488Tyr) | 4683 | NBN | Uncertain significance | 1060503472 | RCV001325784; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965854 | 90965854 | | | 90965854 | - | | |
NM_002485.5(NBN):c.1460G>A (p.Cys487Tyr) | 4683 | NBN | Uncertain significance | 587782118 | RCV000130640|RCV001849936; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965857 | 90965857 | | | 8:g.90965857C>T | ClinGen:CA166803 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1460G>T (p.Cys487Phe) | 4683 | NBN | Uncertain significance | -1 | RCV002988675; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965857 | 90965857 | | | NC_000008.10:g.90965857C>A | - | | |
NM_002485.5(NBN):c.1459T>C (p.Cys487Arg) | 4683 | NBN | Uncertain significance | 2129703194 | RCV001365762; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965858 | 90965858 | | | 90965858 | - | | |
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe) | 4683 | NBN | Uncertain significance | 572568222 | RCV000775381|RCV001800875|RCV002487589|RCV003472299; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; MONDO:MONDO:000 | 8 | 90965860 | 90965860 | | | NC_000008.10:g.90965860G>A | - | | |
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro) | 4683 | NBN | Uncertain significance | 587781380 | RCV000129206|RCV000486944|RCV000636744|RCV003398754|RCV003467105; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90965861 | 90965861 | | | 8:g.90965861A>G | ClinGen:CA163959 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1455G>A (p.Thr485=) | 4683 | NBN | Likely benign | 772864909 | RCV000164024|RCV000469671|RCV001193076; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90965862 | 90965862 | | | 8:g.90965862C>T | ClinGen:CA189836 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1454C>T (p.Thr485Met) | 4683 | NBN | Conflicting interpretations of pathogenicity | 200891292 | RCV000218203|RCV000473153|RCV001284189|RCV001800560; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374 | 8 | 90965863 | 90965863 | | | 8:g.90965863G>A | ClinGen:CA4802717 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1454C>A (p.Thr485Lys) | 4683 | NBN | Uncertain significance | 200891292 | RCV001524909|RCV001872058; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965863 | 90965863 | | | 90965863 | - | | |
NM_002485.5(NBN):c.1453A>T (p.Thr485Ser) | 4683 | NBN | Uncertain significance | 1586054649 | RCV001011660|RCV001860677; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965864 | 90965864 | | | 8:g.90965864T>A | - | | |
NM_002485.5(NBN):c.1453A>G (p.Thr485Ala) | 4683 | NBN | Uncertain significance | 1586054649 | RCV001308431; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965864 | 90965864 | | | 90965864 | - | | |
NM_002485.5(NBN):c.1449A>G (p.Ile483Met) | 4683 | NBN | Uncertain significance | 1586054662 | RCV001011636|RCV001860676; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965868 | 90965868 | | | 8:g.90965868T>C | - | | |
NM_002485.5(NBN):c.1448T>C (p.Ile483Thr) | 4683 | NBN | Uncertain significance | 876658347 | RCV000214099|RCV000229263|RCV001559436; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965869 | 90965869 | | | 8:g.90965869A>G | ClinGen:CA10578763 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1448T>G (p.Ile483Arg) | 4683 | NBN | Uncertain significance | 876658347 | RCV000801918|RCV002388484; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965869 | 90965869 | | | 8:g.90965869A>C | - | | |
NM_002485.5(NBN):c.1445G>A (p.Arg482Lys) | 4683 | NBN | Uncertain significance | 775451862 | RCV000460258|RCV002393159; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965872 | 90965872 | | | NC_000008.10:g.90965872C>T | ClinGen:CA16612361 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1445G>T (p.Arg482Ile) | 4683 | NBN | Uncertain significance | -1 | RCV002944126; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965872 | 90965872 | | | NC_000008.10:g.90965872C>A | - | | |
NM_002485.5(NBN):c.1444A>G (p.Arg482Gly) | 4683 | NBN | Uncertain significance | 886063168 | RCV000310003|RCV000563872|RCV001194316; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90965873 | 90965873 | | | NC_000008.10:g.90965873T>C | ClinGen:CA10631650 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1443A>G (p.Ala481=) | 4683 | NBN | Likely benign | 751121403 | RCV000163614|RCV000545175|RCV001697154; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965874 | 90965874 | | | 8:g.90965874T>C | ClinGen:CA188769 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1441G>C (p.Ala481Pro) | 4683 | NBN | Uncertain significance | 2129703568 | RCV001937918|RCV002388818; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965876 | 90965876 | | | 90965876 | - | | |
NM_002485.5(NBN):c.1438T>C (p.Ser480Pro) | 4683 | NBN | Uncertain significance | 2129703628 | RCV001978302; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965879 | 90965879 | | | 90965879 | - | | |
NM_002485.5(NBN):c.1436A>G (p.Lys479Arg) | 4683 | NBN | Uncertain significance | 786202028 | RCV000164629|RCV001850302; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965881 | 90965881 | | | 8:g.90965881T>C | ClinGen:CA191434 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1434C>T (p.Cys478=) | 4683 | NBN | Likely benign | 1060503473 | RCV000459870|RCV000560958|RCV000609967; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90965883 | 90965883 | | | NC_000008.10:g.90965883G>A | ClinGen:CA16612661 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1434C>A (p.Cys478Ter) | 4683 | NBN | Pathogenic | -1 | RCV002894701; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965883 | 90965883 | | | NC_000008.10:g.90965883G>T | - | | |
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs) | 4683 | NBN | Pathogenic | 864622333 | RCV000205695; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965885 | 90965886 | | | 8:g.90965885_90965886insTGAAGACATTTCT | ClinGen:CA349818 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1199013619 | RCV000773787|RCV001067584; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965885 | 90965885 | | | NC_000008.10:g.90965885A>T | - | | |
NM_002485.5(NBN):c.1432T>G (p.Cys478Gly) | 4683 | NBN | Uncertain significance | 1199013619 | RCV001038392|RCV002391102; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965885 | 90965885 | | | 8:g.90965885A>C | - | | |
NM_002485.5(NBN):c.1432T>C (p.Cys478Arg) | 4683 | NBN | Uncertain significance | 1199013619 | RCV001039705|RCV002391110; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965885 | 90965885 | | | 8:g.90965885A>G | - | | |
NM_002485.5(NBN):c.1431A>G (p.Ser477=) | 4683 | NBN | Likely benign | 759060729 | RCV000636810|RCV001011548; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965886 | 90965886 | | | NC_000008.10:g.90965886T>C | ClinGen:CA4802719 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1430C>T (p.Ser477Leu) | 4683 | NBN | Uncertain significance | 767123014 | RCV000218142|RCV000506485|RCV000532578|RCV003390968; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647| | 8 | 90965887 | 90965887 | | | 8:g.90965887G>A | ClinGen:CA4802720 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1429T>C (p.Ser477Pro) | 4683 | NBN | Uncertain significance | 1586054780 | RCV001011539|RCV001211950; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965888 | 90965888 | | | 8:g.90965888A>G | - | | |
NM_002485.5(NBN):c.1425G>A (p.Met475Ile) | 4683 | NBN | Uncertain significance | 1180796619 | RCV000636763|RCV002388045; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965892 | 90965892 | | | 8:g.90965892C>T | ClinGen:CA371655877 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1425G>C (p.Met475Ile) | 4683 | NBN | Uncertain significance | 1180796619 | RCV000772316|RCV001042170; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965892 | 90965892 | | | NC_000008.10:g.90965892C>G | - | | |
NM_002485.5(NBN):c.1424T>C (p.Met475Thr) | 4683 | NBN | Uncertain significance | -1 | RCV002391903|RCV003103684; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965893 | 90965893 | | | 90965893 | - | | |
NM_002485.5(NBN):c.1423A>C (p.Met475Leu) | 4683 | NBN | Uncertain significance | 767106269 | RCV000465521|RCV000579999; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965894 | 90965894 | | | NC_000008.10:g.90965894T>G | ClinGen:CA16612537 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1423A>T (p.Met475Leu) | 4683 | NBN | Uncertain significance | 767106269 | RCV001043821; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965894 | 90965894 | | | 8:g.90965894T>A | - | | |
NM_002485.5(NBN):c.1419A>G (p.Gln473=) | 4683 | NBN | Likely benign | 587780535 | RCV000163038|RCV000599807|RCV000679452|RCV001080026; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965898 | 90965898 | | | 8:g.90965898T>C | ClinGen:CA187300 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys) | 4683 | NBN | Conflicting interpretations of pathogenicity | 755805461 | RCV000213681|RCV000463881|RCV000484796|RCV003475035; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965900 | 90965900 | | | 8:g.90965900G>T | ClinGen:CA4802721 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu) | 4683 | NBN | Uncertain significance | 755805461 | RCV000988084|RCV001011437; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965900 | 90965900 | | | 8:g.90965900G>C | - | | |
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter) | 4683 | NBN | Pathogenic | 755805461 | RCV001385912; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965900 | 90965900 | | | 90965900 | - | | |
NM_002485.5(NBN):c.1415A>G (p.Asn472Ser) | 4683 | NBN | Uncertain significance | 750711786 | RCV000226778|RCV000568186|RCV001559451; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90965902 | 90965902 | | | 8:g.90965902T>C | ClinGen:CA4802723 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1414A>T (p.Asn472Tyr) | 4683 | NBN | Uncertain significance | 2129704060 | RCV002028742; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965903 | 90965903 | | | 90965903 | - | | |
NM_002485.5(NBN):c.1413A>C (p.Glu471Asp) | 4683 | NBN | Uncertain significance | 1554558584 | RCV001853929; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965904 | 90965904 | | | 8:g.90965904T>G | ClinGen:CA371655905 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1413A>G (p.Glu471=) | 4683 | NBN | Likely benign | 1554558584 | RCV002215814; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965904 | 90965904 | | | 90965904 | - | | |
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly) | 4683 | NBN | Uncertain significance | 878854505 | RCV000231885|RCV000567179|RCV003469158; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965905 | 90965905 | | | 8:g.90965905T>C | ClinGen:CA10582597 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1410A>G (p.Glu470=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554558592 | RCV000572616|RCV001800780|RCV001764653; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965907 | 90965907 | | | 8:g.90965907T>C | ClinGen:CA462114864 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1409A>G (p.Glu470Gly) | 4683 | NBN | Uncertain significance | 876660501 | RCV000220377|RCV000806185; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965908 | 90965908 | | | 8:g.90965908T>C | ClinGen:CA10578764 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly) | 4683 | NBN | Uncertain significance | 780365310 | RCV000697437|RCV001176913; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965911 | 90965911 | | | NC_000008.10:g.90965911T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) | 4683 | NBN | Conflicting interpretations of pathogenicity | 148205441 | RCV000121613|RCV000129788|RCV000167890|RCV000588734|RCV002225383|RCV003389699|RCV003474728; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145||Human Phenotype Ontology:HP:0001 | 8 | 90965912 | 90965912 | | | 8:g.90965912C>A | ClinGen:CA160966 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1405G>A (p.Asp469Asn) | 4683 | NBN | Uncertain significance | 148205441 | RCV000166769|RCV000636701; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965912 | 90965912 | | | 8:g.90965912C>T | ClinGen:CA196691 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1405del (p.Asp469fs) | 4683 | NBN | Pathogenic | 2129704309 | RCV001887944; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965912 | 90965912 | | | 90965911 | - | | |
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser) | 4683 | NBN | Uncertain significance | 730881851 | RCV000160789|RCV000206062|RCV000562418|RCV003462101; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90965913 | 90965913 | | | NC_000008.10:g.90965913C>A | ClinGen:CA299615 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1404G>C (p.Arg468Ser) | 4683 | NBN | Uncertain significance | 730881851 | RCV001995784; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965913 | 90965913 | | | 90965913 | - | | |
NM_002485.5(NBN):c.1403G>A (p.Arg468Lys) | 4683 | NBN | Uncertain significance | 781213350 | RCV000468108|RCV001011347; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965914 | 90965914 | | | NC_000008.10:g.90965914C>T | ClinGen:CA4802727 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1403G>C (p.Arg468Thr) | 4683 | NBN | Uncertain significance | 781213350 | RCV000815957|RCV001011348; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965914 | 90965914 | | | 8:g.90965914C>G | - | | |
NM_002485.5(NBN):c.1402A>G (p.Arg468Gly) | 4683 | NBN | Uncertain significance | 769862680 | RCV001980702|RCV003303582; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90965915 | 90965915 | | | 90965915 | - | | |
NM_002485.5(NBN):c.1401A>G (p.Glu467=) | 4683 | NBN | Likely benign | 2129704446 | RCV001447647; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965916 | 90965916 | | | 90965916 | - | | |
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) | 4683 | NBN | Pathogenic | 1554558613 | RCV000571949|RCV000801906|RCV001356206; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90965918 | 90965918 | | | 8:g.90965918C>A | ClinGen:CA371655931 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1398-2A>G | 4683 | NBN | Likely pathogenic | 2129704501 | RCV002010366; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965921 | 90965921 | | | 90965921 | - | | |
NM_002485.5(NBN):c.1398-4dup | 4683 | NBN | Likely benign | 2129704523 | RCV001415188; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965922 | 90965923 | | | 90965922 | - | | |
NM_002485.5(NBN):c.1398-5C>G | 4683 | NBN | Uncertain significance | 2129704548 | RCV002023672; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965924 | 90965924 | | | 90965924 | - | | |
NM_002485.5(NBN):c.1398-7A>G | 4683 | NBN | Uncertain significance | 1563527772 | RCV000686885; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965926 | 90965926 | | | 8:g.90965926T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1398-8A>T | 4683 | NBN | Likely benign | 2129704576 | RCV001458412; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965927 | 90965927 | | | 90965927 | - | | |
NM_002485.5(NBN):c.1398-10dup | 4683 | NBN | Benign/Likely benign | 587780555 | RCV000160772|RCV000504209|RCV000759887|RCV001080891; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965928 | 90965929 | | | 8:g.90965928_90965929insA | ClinGen:CA332111 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1398-9A>T | 4683 | NBN | Likely benign | 773093849 | RCV000552138|RCV001566591; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90965928 | 90965928 | | | NC_000008.10:g.90965928T>A | ClinGen:CA4802731 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1398-9A>G | 4683 | NBN | Likely benign | 773093849 | RCV001400814; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965928 | 90965928 | | | 90965928 | - | | |
NM_002485.5(NBN):c.1398-10T>A | 4683 | NBN | Conflicting interpretations of pathogenicity | 539960851 | RCV000214666|RCV000463346|RCV001355059|RCV002225524; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145 | 8 | 90965929 | 90965929 | | | 8:g.90965929A>T | ClinGen:CA4802732 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1398-10del | 4683 | NBN | Likely benign | 587780555 | RCV000636814; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965929 | 90965929 | | | NC_000008.10:g.90965937del | ClinGen:CA4802730 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1398-10T>C | 4683 | NBN | Likely benign | 539960851 | RCV000874143; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965929 | 90965929 | | | 8:g.90965929A>G | - | | |
NM_002485.5(NBN):c.1398-13_1398-10del | 4683 | NBN | Likely benign | 587780555 | RCV001501027; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965929 | 90965932 | | | 8:g.90965929_90965932del | - | | |
NM_002485.5(NBN):c.1398-14T>A | 4683 | NBN | Likely benign | 774489464 | RCV002067312; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965933 | 90965933 | | | NC_000008.10:g.90965933A>T | - | | |
NM_002485.5(NBN):c.1398-15T>A | 4683 | NBN | Likely benign | -1 | RCV002856139; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965934 | 90965934 | | | NC_000008.10:g.90965934A>T | - | | |
NM_002485.5(NBN):c.1398-17T>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 561077201 | RCV000480010|RCV002063747; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965936 | 90965936 | | | 8:g.90965936A>C | ClinGen:CA4802735 | CN169374 not specified; | |
NM_002485.5(NBN):c.1398-19_1398-17del | 4683 | NBN | Likely benign | 1297354269 | RCV001443489; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965936 | 90965938 | | | 8:g.90965936_90965938del | - | | |
NM_002485.5(NBN):c.1398-19C>T | 4683 | NBN | Benign/Likely benign | 201495716 | RCV000160771|RCV001514409|RCV002225464|RCV003315964; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO: | 8 | 90965938 | 90965938 | | | NC_000008.10:g.90965938G>A | ClinGen:CA299579 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1398-19C>G | 4683 | NBN | Likely benign | -1 | RCV003082359; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965938 | 90965938 | | | NC_000008.10:g.90965938G>C | - | | |
NM_002485.5(NBN):c.1398-19del | 4683 | NBN | Likely benign | -1 | RCV002947914; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90965938 | 90965938 | | | NC_000008.10:g.90965938del | - | | |
NM_002485.5(NBN):c.1397+16C>T | 4683 | NBN | Likely benign | 2129716112 | RCV002128096; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967495 | 90967495 | | | 90967495 | - | | |
NM_002485.5(NBN):c.1397+15A>G | 4683 | NBN | Likely benign | 2129716128 | RCV001874006; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967496 | 90967496 | | | 90967496 | - | | |
NM_002485.5(NBN):c.1397+6_1397+11del | 4683 | NBN | Uncertain significance | -1 | RCV002607537; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967500 | 90967505 | | | NC_000008.10:g.90967502_90967507del | - | | |
NM_002485.5(NBN):c.1397+10T>C | 4683 | NBN | Likely benign | 1554558985 | RCV001495929; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967501 | 90967501 | | | 8:g.90967501A>G | ClinGen:CA658683529 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1397+1_1397+9del | 4683 | NBN | Likely pathogenic | 2129716262 | RCV001379804|RCV002395862; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967502 | 90967510 | | | 90967501 | - | | |
NM_002485.5(NBN):c.1397+9T>C | 4683 | NBN | Likely benign | 1810644919 | RCV002110852; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967502 | 90967502 | | | 90967502 | - | | |
NM_002485.5(NBN):c.1397+8T>C | 4683 | NBN | Likely benign | 2129716281 | RCV001496444; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967503 | 90967503 | | | 90967503 | - | | |
NM_002485.5(NBN):c.1397+7T>G | 4683 | NBN | Likely benign | 1554558986 | RCV001398219; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967504 | 90967504 | | | 8:g.90967504A>C | ClinGen:CA658683530 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1397+5G>C | 4683 | NBN | Uncertain significance | 1060503489 | RCV000464807; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967506 | 90967506 | | | NC_000008.10:g.90967506C>G | ClinGen:CA16612481 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1397+4T>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 770699381 | RCV000418813|RCV001011354|RCV001307656; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967507 | 90967507 | | | 8:g.90967507A>G | ClinGen:CA4802756 | CN169374 not specified; | |
NM_002485.5(NBN):c.1397+4T>G | 4683 | NBN | Uncertain significance | 770699381 | RCV001192406|RCV001319392; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967507 | 90967507 | | | 8:g.90967507A>C | - | | |
NM_002485.5(NBN):c.1397+3C>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 876660481 | RCV000216247|RCV000636797; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967508 | 90967508 | | | 8:g.90967508G>C | ClinGen:CA10578766 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1397+2T>A | 4683 | NBN | Likely pathogenic | 730881850 | RCV000160788|RCV000459098|RCV003467262; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967509 | 90967509 | | | NC_000008.10:g.90967509A>T | ClinGen:CA299614 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1397+1del | 4683 | NBN | Pathogenic | 1060503467 | RCV000469494|RCV000570201|RCV001547217|RCV002496787|RCV003470490; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MON | 8 | 90967510 | 90967510 | | | NC_000008.10:g.90967511del | ClinGen:CA16612538 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1396dup (p.Arg466fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1349928568 | RCV000584003|RCV000636764|RCV003159982|RCV003471930; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Human Phenotype Ontology:HP:00 | 8 | 90967511 | 90967512 | | | 8:g.90967511_90967512insT | ClinGen:CA658683531 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1396del (p.Arg466fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1349928568 | RCV000673266|RCV002388183|RCV003448981; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744, Orphanet:544 | 8 | 90967512 | 90967512 | | | 8:g.90967512_90967512del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1396A>G (p.Arg466Gly) | 4683 | NBN | Uncertain significance | 1810646211 | RCV001208142; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967512 | 90967512 | | | 8:g.90967512T>C | - | | |
NM_002485.5(NBN):c.1395A>G (p.Lys465=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1213870507 | RCV000563286|RCV001449253; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967513 | 90967513 | | | 8:g.90967513T>C | ClinGen:CA462114815 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1394A>G (p.Lys465Arg) | 4683 | NBN | Uncertain significance | -1 | RCV003049851; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967514 | 90967514 | | | NC_000008.10:g.90967514T>C | - | | |
NM_002485.5(NBN):c.1392A>G (p.Lys464=) | 4683 | NBN | Likely benign | 2129716580 | RCV001466109; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967516 | 90967516 | | | 90967516 | - | | |
NM_002485.5(NBN):c.1391A>G (p.Lys464Arg) | 4683 | NBN | Uncertain significance | 2129716605 | RCV001884426; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967517 | 90967517 | | | 90967517 | - | | |
NM_002485.5(NBN):c.1390A>G (p.Lys464Glu) | 4683 | NBN | Uncertain significance | 2129716633 | RCV002032888; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967518 | 90967518 | | | 90967518 | - | | |
NM_002485.5(NBN):c.1388C>T (p.Thr463Ile) | 4683 | NBN | Uncertain significance | 2129716704 | RCV001909754|RCV002388819; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967520 | 90967520 | | | 90967520 | - | | |
NM_002485.5(NBN):c.1387A>G (p.Thr463Ala) | 4683 | NBN | Uncertain significance | 745821964 | RCV000812465|RCV003279091; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967521 | 90967521 | | | 8:g.90967521T>C | - | | |
NM_002485.5(NBN):c.1386T>C (p.Ser462=) | 4683 | NBN | Likely benign | 772094384 | RCV002185834; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967522 | 90967522 | | | 90967522 | - | | |
NM_002485.5(NBN):c.1385C>T (p.Ser462Phe) | 4683 | NBN | Uncertain significance | 1563530730 | RCV000685203|RCV003362887; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967523 | 90967523 | | | NC_000008.10:g.90967523G>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1383G>A (p.Pro461=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 886063169 | RCV000357753|RCV000566911|RCV000431381; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90967525 | 90967525 | | | NC_000008.10:g.90967525C>T | ClinGen:CA10631749 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 367760321 | RCV000539528|RCV000567288|RCV001591216|RCV001821527|RCV003419937|RCV003476251; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374||Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:1 | 8 | 90967526 | 90967526 | | | NC_000008.10:g.90967526G>A | ClinGen:CA4802760 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1381C>T (p.Pro461Ser) | 4683 | NBN | Uncertain significance | 1554559015 | RCV000533485; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967527 | 90967527 | | | NC_000008.10:g.90967527G>A | ClinGen:CA371655980 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1379A>G (p.Gln460Arg) | 4683 | NBN | Uncertain significance | 2129716929 | RCV002028408; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967529 | 90967529 | | | 90967529 | - | | |
NM_002485.5(NBN):c.1377dup (p.Gln460fs) | 4683 | NBN | Pathogenic | 1554559028 | RCV000552774; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967530 | 90967531 | | | NC_000008.10:g.90967533dup | ClinGen:CA658657798 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1377T>G (p.Phe459Leu) | 4683 | NBN | Uncertain significance | 1397458119 | RCV002006582|RCV002386895; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967531 | 90967531 | | | 90967531 | - | | |
NM_002485.5(NBN):c.1374C>T (p.Tyr458=) | 4683 | NBN | Likely benign | 2129717018 | RCV001456671|RCV002384714; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967534 | 90967534 | | | 90967534 | - | | |
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys) | 4683 | NBN | Uncertain significance | 544909538 | RCV000119215|RCV000215482|RCV000507373|RCV001575895; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900 | 8 | 90967535 | 90967535 | | | 8:g.90967535T>C | ClinGen:CA332094 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser) | 4683 | NBN | Uncertain significance | 876659312 | RCV000222178|RCV000479010|RCV000590244|RCV000636705; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967538 | 90967538 | | | 8:g.90967538T>C | ClinGen:CA10578767 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1369A>G (p.Asn457Asp) | 4683 | NBN | Uncertain significance | 1554559034 | RCV001303461; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967539 | 90967539 | | | NC_000008.10:g.90967539T>C | ClinGen:CA371656011 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1368A>G (p.Arg456=) | 4683 | NBN | Likely benign | 1554559036 | RCV000581562|RCV002061879; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967540 | 90967540 | | | 8:g.90967540T>C | ClinGen:CA462114852 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1368A>C (p.Arg456Ser) | 4683 | NBN | Uncertain significance | 1554559036 | RCV000771446|RCV001800867; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967540 | 90967540 | | | NC_000008.10:g.90967540T>G | - | | |
NM_002485.5(NBN):c.1366del (p.Arg456fs) | 4683 | NBN | Pathogenic | 1554559038 | RCV001060890; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967542 | 90967542 | | | 8:g.90967542_90967542del | ClinGen:CA658683532 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1366A>G (p.Arg456Gly) | 4683 | NBN | Uncertain significance | 1586058203 | RCV001011063|RCV001827176; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967542 | 90967542 | | | 8:g.90967542T>C | - | | |
NM_002485.5(NBN):c.1365C>G (p.Ile455Met) | 4683 | NBN | Uncertain significance | 1810649752 | RCV001070358; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967543 | 90967543 | | | 8:g.90967543G>C | - | | |
NM_002485.5(NBN):c.1363A>G (p.Ile455Val) | 4683 | NBN | Uncertain significance | 1554559041 | RCV000772506|RCV001236893; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967545 | 90967545 | | | NC_000008.10:g.90967545T>C | - | | |
NM_002485.5(NBN):c.1362dup (p.Ile455fs) | 4683 | NBN | Pathogenic | 2129717307 | RCV001389205; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967545 | 90967546 | | | 90967545 | - | | |
NM_002485.5(NBN):c.1362C>T (p.Ser454=) | 4683 | NBN | Likely benign | 587780775 | RCV000123205|RCV000221286; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967546 | 90967546 | | | 8:g.90967546G>A | ClinGen:CA332813 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) | 4683 | NBN | Uncertain significance | 587780774 | RCV000123204|RCV000571647|RCV001284025|RCV003474738; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967547 | 90967547 | | | 8:g.90967547G>T | ClinGen:CA332810 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1359C>A (p.Asn453Lys) | 4683 | NBN | Uncertain significance | 1412358437 | RCV000791840|RCV001011162; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967549 | 90967549 | | | 8:g.90967549G>T | - | | |
NM_002485.5(NBN):c.1356C>T (p.Thr452=) | 4683 | NBN | Likely benign | 1402518842 | RCV001482857|RCV002382155; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967552 | 90967552 | | | 8:g.90967552G>A | - | | |
NM_002485.5(NBN):c.1355C>T (p.Thr452Ile) | 4683 | NBN | Uncertain significance | 1810650900 | RCV001228269|RCV002379872; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967553 | 90967553 | | | 8:g.90967553G>A | - | | |
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) | 4683 | NBN | Conflicting interpretations of pathogenicity | 141137543 | RCV000131458|RCV000199946|RCV000212747|RCV000735122|RCV002225444; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145 | 8 | 90967554 | 90967554 | | | 8:g.90967554T>G | ClinGen:CA294382 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1352_1353delinsCC (p.Gln451Pro) | 4683 | NBN | Uncertain significance | 1554559065 | RCV000562977|RCV001228078|RCV001764643; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90967555 | 90967556 | | | NC_000008.10:g.90967555_90967556delinsGG | ClinGen:CA658657799 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1353G>C (p.Gln451His) | 4683 | NBN | Uncertain significance | 1554559063 | RCV000808353; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967555 | 90967555 | | | 8:g.90967555C>G | - | | |
NM_002485.5(NBN):c.1352A>G (p.Gln451Arg) | 4683 | NBN | Uncertain significance | 1554559068 | RCV000571072|RCV001245760; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967556 | 90967556 | | | 8:g.90967556T>C | ClinGen:CA371656047 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1351C>G (p.Gln451Glu) | 4683 | NBN | Uncertain significance | 1011573169 | RCV000563541|RCV001050887|RCV001591329; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90967557 | 90967557 | | | 8:g.90967557G>C | ClinGen:CA371656050 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1350G>A (p.Gln450=) | 4683 | NBN | Likely benign | 2129717669 | RCV001468275|RCV002384749; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967558 | 90967558 | | | 90967558 | - | | |
NM_002485.5(NBN):c.1349A>G (p.Gln450Arg) | 4683 | NBN | Uncertain significance | 776210901 | RCV000693711; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967559 | 90967559 | | | 8:g.90967559T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1349A>C (p.Gln450Pro) | 4683 | NBN | Uncertain significance | 776210901 | RCV001011001|RCV001860655; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967559 | 90967559 | | | 8:g.90967559T>G | - | | |
NM_002485.5(NBN):c.1347G>A (p.Gln449=) | 4683 | NBN | Likely benign | 761492204 | RCV000474504|RCV000561724; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967561 | 90967561 | | | NC_000008.10:g.90967561C>T | ClinGen:CA4802763 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 146403088 | RCV000160787|RCV000200818|RCV000656928|RCV001264572|RCV003474834; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90967565 | 90967565 | | | NC_000008.10:g.90967565T>A | ClinGen:CA239214 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1338T>C (p.Ala446=) | 4683 | NBN | Likely benign | 1373132755 | RCV000575103|RCV000835162|RCV001088699; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967570 | 90967570 | | | 8:g.90967570A>G | ClinGen:CA462114891 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1338T>G (p.Ala446=) | 4683 | NBN | Likely benign | 1373132755 | RCV002082878; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967570 | 90967570 | | | 90967570 | - | | |
NM_002485.5(NBN):c.1336del (p.Ala446fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554559083 | RCV000573746|RCV001058183|RCV003476332; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967572 | 90967572 | | | 8:g.90967572_90967572del | ClinGen:CA658657800 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1336G>A (p.Ala446Thr) | 4683 | NBN | Uncertain significance | 1586058411 | RCV000802333|RCV001545957; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN517202 | 8 | 90967572 | 90967572 | | | 8:g.90967572C>T | - | | |
NM_002485.5(NBN):c.1335G>A (p.Arg445=) | 4683 | NBN | Likely benign | 1554559085 | RCV000563089|RCV001422574; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967573 | 90967573 | | | 8:g.90967573C>T | ClinGen:CA462114892 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1335G>T (p.Arg445Ser) | 4683 | NBN | Uncertain significance | 1554559085 | RCV000563792|RCV001800777; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967573 | 90967573 | | | 8:g.90967573C>A | ClinGen:CA371656085 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1335G>C (p.Arg445Ser) | 4683 | NBN | Uncertain significance | 1554559085 | RCV000806910; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967573 | 90967573 | | | 8:g.90967573C>G | - | | |
NM_002485.5(NBN):c.1334G>C (p.Arg445Thr) | 4683 | NBN | Uncertain significance | 1448696637 | RCV000575279|RCV001858317; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967574 | 90967574 | | | NC_000008.10:g.90967574C>G | ClinGen:CA371656089 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1332dup (p.Arg445Ter) | 4683 | NBN | Pathogenic | 1586058444 | RCV000817450|RCV002381840; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967575 | 90967576 | | | 8:g.90967575_90967576insA | - | | |
NM_002485.5(NBN):c.1332T>C (p.Asp444=) | 4683 | NBN | Likely benign | 1810653364 | RCV001454518; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967576 | 90967576 | | | 90967576 | - | | |
NM_002485.5(NBN):c.1331A>C (p.Asp444Ala) | 4683 | NBN | Uncertain significance | 1237800234 | RCV000571693|RCV000636738; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967577 | 90967577 | | | NC_000008.10:g.90967577T>G | ClinGen:CA371656096 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1327A>G (p.Lys443Glu) | 4683 | NBN | Uncertain significance | 1554559094 | RCV000636729; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967581 | 90967581 | | | NC_000008.10:g.90967581T>C | ClinGen:CA371656105 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554559094 | RCV000799574|RCV003467379; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967581 | 90967581 | | | 8:g.90967581T>A | - | | |
NM_002485.5(NBN):c.1324A>G (p.Ser442Gly) | 4683 | NBN | Uncertain significance | 1554559097 | RCV000576143|RCV001069253; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967584 | 90967584 | | | 8:g.90967584T>C | ClinGen:CA371656114 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1322A>G (p.Lys441Arg) | 4683 | NBN | Uncertain significance | 1329281031 | RCV000636774|RCV001011010; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967586 | 90967586 | | | NC_000008.10:g.90967586T>C | ClinGen:CA371656119 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1322A>C (p.Lys441Thr) | 4683 | NBN | Uncertain significance | 1329281031 | RCV000702528|RCV002386255; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967586 | 90967586 | | | NC_000008.10:g.90967586T>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1321A>G (p.Lys441Glu) | 4683 | NBN | Uncertain significance | 751876787 | RCV001368924|RCV002384531; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967587 | 90967587 | | | 90967587 | - | | |
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) | 4683 | NBN | Conflicting interpretations of pathogenicity | 28538230 | RCV000115781|RCV000173760|RCV001082062|RCV001292773|RCV001355697|RCV001719859; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967591 | 90967591 | | | 8:g.90967591T>C | ClinGen:CA200704 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1315A>G (p.Ile439Val) | 4683 | NBN | Conflicting interpretations of pathogenicity | 752837508 | RCV000214707|RCV000229100; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967593 | 90967593 | | | 8:g.90967593T>C | ClinGen:CA4802766 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1314T>C (p.Ser438=) | 4683 | NBN | Likely benign | 1057521491 | RCV000435396|RCV000555927|RCV001010922; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967594 | 90967594 | | | 8:g.90967594A>G | ClinGen:CA16605511 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile) | 4683 | NBN | Uncertain significance | 786203131 | RCV000166304|RCV000204846|RCV000780521; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90967595 | 90967595 | | | 8:g.90967595C>A | ClinGen:CA195519 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1313G>A (p.Ser438Asn) | 4683 | NBN | Uncertain significance | 786203131 | RCV000699980|RCV000774986; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967595 | 90967595 | | | 8:g.90967595C>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1312A>G (p.Ser438Gly) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1456827107 | RCV000573699|RCV001063253; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967596 | 90967596 | | | NC_000008.10:g.90967596T>C | ClinGen:CA371656141 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1309C>T (p.Pro437Ser) | 4683 | NBN | Uncertain significance | 1810656128 | RCV001044578; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967599 | 90967599 | | | 8:g.90967599G>A | - | | |
NM_002485.5(NBN):c.1308G>A (p.Leu436=) | 4683 | NBN | Likely benign | 756208277 | RCV002088203; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967600 | 90967600 | | | 90967600 | - | | |
NM_002485.5(NBN):c.1307T>A (p.Leu436Ter) | 4683 | NBN | Likely pathogenic | -1 | RCV002308118; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967601 | 90967601 | | | 90967601 | - | | |
NM_002485.5(NBN):c.1306T>C (p.Leu436=) | 4683 | NBN | Likely benign | 375885975 | RCV000204069|RCV000574841|RCV001697241; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90967602 | 90967602 | | | 8:g.90967602A>G | ClinGen:CA348331 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile) | 4683 | NBN | Uncertain significance | 757452107 | RCV000164372|RCV000464605|RCV001797059; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90967607 | 90967607 | | | 8:g.90967607G>A | ClinGen:CA190795 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1301C>A (p.Thr434Asn) | 4683 | NBN | Uncertain significance | 757452107 | RCV000167272|RCV000820553; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967607 | 90967607 | | | 8:g.90967607G>T | ClinGen:CA197896 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1301C>G (p.Thr434Ser) | 4683 | NBN | Uncertain significance | 757452107 | RCV000538781|RCV001010864; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967607 | 90967607 | | | 8:g.90967607G>C | ClinGen:CA371656162 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1299A>G (p.Pro433=) | 4683 | NBN | Likely benign | 1161505808 | RCV000526489|RCV000581219|RCV001707726; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90967609 | 90967609 | | | NC_000008.10:g.90967609T>C | ClinGen:CA462114919 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1298C>G (p.Pro433Arg) | 4683 | NBN | Uncertain significance | 1554559140 | RCV000550358; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967610 | 90967610 | | | 8:g.90967610G>C | ClinGen:CA371656166 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1292_1297del (p.Leu431_Ser432del) | 4683 | NBN | Uncertain significance | -1 | RCV002863345; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967611 | 90967616 | | | NC_000008.10:g.90967612_90967617del | - | | |
NM_002485.5(NBN):c.1296A>G (p.Ser432=) | 4683 | NBN | Likely benign | 1554559144 | RCV000569814|RCV002526880; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967612 | 90967612 | | | 8:g.90967612T>C | ClinGen:CA462114925 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1295C>T (p.Ser432Leu) | 4683 | NBN | Uncertain significance | 1258938703 | RCV001010810|RCV001221398; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967613 | 90967613 | | | 8:g.90967613G>A | - | | |
NM_002485.5(NBN):c.1293T>A (p.Leu431=) | 4683 | NBN | Likely benign | 2129718873 | RCV002207641; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967615 | 90967615 | | | 90967615 | - | | |
NM_002485.5(NBN):c.1291C>T (p.Leu431Phe) | 4683 | NBN | Uncertain significance | 1586058701 | RCV001904649; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967617 | 90967617 | | | 90967617 | - | | |
NM_002485.5(NBN):c.1290G>C (p.Gln430His) | 4683 | NBN | Uncertain significance | 1554559149 | RCV000537438|RCV001010788; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967618 | 90967618 | | | 8:g.90967618C>G | ClinGen:CA371656184 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1289A>G (p.Gln430Arg) | 4683 | NBN | Uncertain significance | 1563531531 | RCV001239659; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967619 | 90967619 | | | NC_000008.10:g.90967619T>C | - | | |
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter) | 4683 | NBN | Pathogenic | -1 | RCV002383218|RCV003094921; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967621 | 90967621 | | | 90967621 | - | | |
NM_002485.5(NBN):c.1286A>G (p.Tyr429Cys) | 4683 | NBN | Uncertain significance | 370121348 | RCV000636699|RCV001188073; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967622 | 90967622 | | | 8:g.90967622T>C | ClinGen:CA181260442 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1286A>C (p.Tyr429Ser) | 4683 | NBN | Uncertain significance | 370121348 | RCV001051883; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967622 | 90967622 | | | 8:g.90967622T>G | - | | |
NM_002485.5(NBN):c.1285T>G (p.Tyr429Asp) | 4683 | NBN | Uncertain significance | 587782409 | RCV000131448|RCV000173758|RCV001039652; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967623 | 90967623 | | | 8:g.90967623A>C | ClinGen:CA168168 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1284C>G (p.Asn428Lys) | 4683 | NBN | Uncertain significance | 1586058745 | RCV001010746|RCV001221145; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967624 | 90967624 | | | 8:g.90967624G>C | - | | |
NM_002485.5(NBN):c.1283A>T (p.Asn428Ile) | 4683 | NBN | Uncertain significance | 1406123091 | RCV000525048|RCV000564622; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967625 | 90967625 | | | 8:g.90967625T>A | ClinGen:CA371656201 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp) | 4683 | NBN | Uncertain significance | 786202302 | RCV000165044|RCV000476294|RCV000588529|RCV001788056; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967626 | 90967626 | | | 8:g.90967626T>C | ClinGen:CA192382 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1281A>G (p.Pro427=) | 4683 | NBN | Likely benign | 1554559167 | RCV000582262|RCV000607661|RCV000870718; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967627 | 90967627 | | | 8:g.90967627T>C | ClinGen:CA462114939 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1280C>G (p.Pro427Arg) | 4683 | NBN | Uncertain significance | 778881191 | RCV000700776|RCV001805815; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967628 | 90967628 | | | NC_000008.10:g.90967628G>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr) | 4683 | NBN | Uncertain significance | 1554559171 | RCV000569911|RCV001054209|RCV002491138; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967 | 8 | 90967629 | 90967629 | | | NC_000008.10:g.90967629G>T | ClinGen:CA371656207 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1275A>T (p.Arg425Ser) | 4683 | NBN | Uncertain significance | 916556331 | RCV000772165|RCV001856009; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967633 | 90967633 | | | NC_000008.10:g.90967633T>A | - | | |
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1060503478 | RCV000463281|RCV000565324|RCV002279233; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90967634 | 90967634 | | | NC_000008.10:g.90967634C>T | ClinGen:CA16612541 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1274G>C (p.Arg425Thr) | 4683 | NBN | Uncertain significance | 1060503478 | RCV001307685; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967634 | 90967634 | | | 90967634 | - | | |
NM_002485.5(NBN):c.1273A>C (p.Arg425=) | 4683 | NBN | Likely benign | 1554559177 | RCV000535978; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967635 | 90967635 | | | 8:g.90967635T>G | ClinGen:CA462114948 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1272G>A (p.Met424Ile) | 4683 | NBN | Uncertain significance | -1 | RCV002797057; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967636 | 90967636 | | | NC_000008.10:g.90967636C>T | - | | |
NM_002485.5(NBN):c.1272G>T (p.Met424Ile) | 4683 | NBN | Uncertain significance | -1 | RCV002938634; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967636 | 90967636 | | | NC_000008.10:g.90967636C>A | - | | |
NM_002485.5(NBN):c.1269G>A (p.Lys423=) | 4683 | NBN | Likely benign | 2129719377 | RCV002086523|RCV002259165; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967639 | 90967639 | | | 90967639 | - | | |
NM_002485.5(NBN):c.1268A>G (p.Lys423Arg) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1444306607 | RCV000572328|RCV001041861; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967640 | 90967640 | | | 8:g.90967640T>C | ClinGen:CA371656233 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1266T>C (p.Ala422=) | 4683 | NBN | Likely benign | 2129719439 | RCV001442005|RCV002377723; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967642 | 90967642 | | | 90967642 | - | | |
NM_002485.5(NBN):c.1265C>G (p.Ala422Gly) | 4683 | NBN | Uncertain significance | 1810660625 | RCV001228702|RCV002447146; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967643 | 90967643 | | | 8:g.90967643G>C | - | | |
NM_002485.5(NBN):c.1264G>T (p.Ala422Ser) | 4683 | NBN | Uncertain significance | 1336243918 | RCV001358614|RCV002547697; | N | MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967644 | 90967644 | | | 90967644 | - | | |
NM_002485.5(NBN):c.1264G>A (p.Ala422Thr) | 4683 | NBN | Uncertain significance | 1336243918 | RCV001990287; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967644 | 90967644 | | | 90967644 | - | | |
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) | 4683 | NBN | Conflicting interpretations of pathogenicity | 104895032 | RCV000114875|RCV000115780|RCV000123203|RCV000212745|RCV000515275|RCV000757930|RCV001358304; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:000480 | 8 | 90967646 | 90967646 | | | 8:g.90967646A>G | ClinGen:CA230729 | C0023449 613065 Acute lymphoid leukemia; | |
NM_002485.5(NBN):c.1261T>C (p.Leu421=) | 4683 | NBN | Likely benign | 2129719531 | RCV002194354; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967647 | 90967647 | | | 90967647 | - | | |
NM_002485.5(NBN):c.1260T>A (p.Thr420=) | 4683 | NBN | Likely benign | 1554559199 | RCV000601226|RCV001481396|RCV002438579; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967648 | 90967648 | | | 8:g.90967648A>T | ClinGen:CA462114963 | CN169374 not specified; | |
NM_002485.5(NBN):c.1259C>G (p.Thr420Ser) | 4683 | NBN | Uncertain significance | -1 | RCV003009583|RCV003009584; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MeSH:D030342,MedGen:C0950123 | 8 | 90967649 | 90967649 | | | NC_000008.10:g.90967649G>C | - | | |
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1238152597 | RCV000636766|RCV000657459|RCV001010571|RCV003465395; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967650 | 90967653 | | | NC_000008.10:g.90967651_90967654del | ClinGen:CA583843908 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1257T>C (p.Asn419=) | 4683 | NBN | Likely benign | 1586058905 | RCV000983560; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967651 | 90967651 | | | 8:g.90967651A>G | - | | |
NM_002485.5(NBN):c.1255A>G (p.Asn419Asp) | 4683 | NBN | Uncertain significance | 730881849 | RCV000160786|RCV000212744|RCV001304232; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967653 | 90967653 | | | NC_000008.10:g.90967653T>C | ClinGen:CA299611 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1255A>C (p.Asn419His) | 4683 | NBN | Uncertain significance | 730881849 | RCV000559800|RCV001010572; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967653 | 90967653 | | | 8:g.90967653T>G | ClinGen:CA4802771 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1255A>T (p.Asn419Tyr) | 4683 | NBN | Uncertain significance | 730881849 | RCV001010573|RCV001364886; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967653 | 90967653 | | | 8:g.90967653T>A | - | | |
NM_002485.5(NBN):c.1254A>G (p.Ser418=) | 4683 | NBN | Likely benign | 2129719709 | RCV001460588; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967654 | 90967654 | | | 90967654 | - | | |
NM_002485.5(NBN):c.1253C>T (p.Ser418Leu) | 4683 | NBN | Uncertain significance | 1554559212 | RCV000636748; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967655 | 90967655 | | | 8:g.90967655G>A | ClinGen:CA16622017 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter) | 4683 | NBN | Pathogenic | 1554559212 | RCV000819368|RCV002415924; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967655 | 90967655 | | | 8:g.90967655G>T | - | | |
NM_002485.5(NBN):c.1251A>G (p.Val417=) | 4683 | NBN | Likely benign | 749316300 | RCV000636801; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967657 | 90967657 | | | NC_000008.10:g.90967657T>C | ClinGen:CA4802772 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1250T>G (p.Val417Gly) | 4683 | NBN | Uncertain significance | 1554559216 | RCV000542974; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967658 | 90967658 | | | 8:g.90967658A>C | ClinGen:CA371656266 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1250T>C (p.Val417Ala) | 4683 | NBN | Uncertain significance | 1554559216 | RCV001057321|RCV002409468; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967658 | 90967658 | | | 8:g.90967658A>G | - | | |
NM_002485.5(NBN):c.1249G>C (p.Val417Leu) | 4683 | NBN | Uncertain significance | 768087330 | RCV001299558; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967659 | 90967659 | | | 90967659 | - | | |
NM_002485.5(NBN):c.1248G>T (p.Met416Ile) | 4683 | NBN | Conflicting interpretations of pathogenicity | 756572268 | RCV000164855|RCV000534913|RCV001582649|RCV003468723; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967660 | 90967660 | | | 8:g.90967660C>A | ClinGen:CA191930 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1248G>A (p.Met416Ile) | 4683 | NBN | Conflicting interpretations of pathogenicity | 756572268 | RCV001010556|RCV002295316; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967660 | 90967660 | | | 8:g.90967660C>T | - | | |
NM_002485.5(NBN):c.1247T>C (p.Met416Thr) | 4683 | NBN | Uncertain significance | 863224713 | RCV000198264|RCV000759886|RCV000781644|RCV001010551|RCV002503783; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontolog | 8 | 90967661 | 90967661 | | | NC_000008.10:g.90967661A>G | ClinGen:CA337757 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1246A>T (p.Met416Leu) | 4683 | NBN | Uncertain significance | 1554559222 | RCV001988443; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967662 | 90967662 | | | 90967662 | - | | |
NM_002485.5(NBN):c.1245T>C (p.Ser415=) | 4683 | NBN | Likely benign | 776180689 | RCV000613803|RCV002531555; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967663 | 90967663 | | | 8:g.90967663A>G | ClinGen:CA4802774 | CN169374 not specified; | |
NM_002485.5(NBN):c.1245T>G (p.Ser415Arg) | 4683 | NBN | Uncertain significance | 776180689 | RCV001318912; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967663 | 90967663 | | | 90967663 | - | | |
NM_002485.5(NBN):c.1243_1244insTTA (p.Asn414_Ser415insIle) | 4683 | NBN | Uncertain significance | 587781532 | RCV000129532|RCV000560712; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967664 | 90967665 | | | 8:g.90967664_90967665insTAA | ClinGen:CA164613 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1244G>A (p.Ser415Asn) | 4683 | NBN | Conflicting interpretations of pathogenicity | 764832388 | RCV000792228|RCV001010512; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967664 | 90967664 | | | 8:g.90967664C>T | - | | |
NM_002485.5(NBN):c.1235ATA[2] (p.Asn414del) | 4683 | NBN | Uncertain significance | 1563531915 | RCV000689933; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967665 | 90967667 | | | 8:g.90967665_90967667del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1243A>C (p.Ser415Arg) | 4683 | NBN | Uncertain significance | -1 | RCV002384931|RCV003098568; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967665 | 90967665 | | | 90967665 | - | | |
NM_002485.5(NBN):c.1242T>C (p.Asn414=) | 4683 | NBN | Likely benign | 864622135 | RCV000561360|RCV001413025; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967666 | 90967666 | | | 8:g.90967666A>G | ClinGen:CA349082 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1241A>G (p.Asn414Ser) | 4683 | NBN | Uncertain significance | 1554559235 | RCV000636713|RCV002386023; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967667 | 90967667 | | | 8:g.90967667T>C | ClinGen:CA371656286 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1239T>C (p.Asn413=) | 4683 | NBN | Likely benign | 1563531944 | RCV001462375|RCV002377781; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967669 | 90967669 | | | 90967669 | - | | |
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser) | 4683 | NBN | Conflicting interpretations of pathogenicity | 529340553 | RCV000222002|RCV000589729|RCV001087448; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967670 | 90967670 | | | 8:g.90967670T>C | ClinGen:CA287901 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1237A>G (p.Asn413Asp) | 4683 | NBN | Uncertain significance | 1810664293 | RCV001224703|RCV002366012; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967671 | 90967671 | | | 8:g.90967671T>C | - | | |
NM_002485.5(NBN):c.1236T>A (p.Asn412Lys) | 4683 | NBN | Uncertain significance | -1 | RCV002828068; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967672 | 90967672 | | | NC_000008.10:g.90967672A>T | - | | |
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer) | 4683 | NBN | Pathogenic/Likely pathogenic | 2129720196 | RCV001388819|RCV002368227|RCV003469745; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967673 | 90967674 | | | 90967672 | - | | |
NM_002485.5(NBN):c.1235A>G (p.Asn412Ser) | 4683 | NBN | Uncertain significance | -1 | RCV002300241|RCV003308124; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967673 | 90967673 | | | 90967673 | - | | |
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys) | 4683 | NBN | Conflicting interpretations of pathogenicity | 551032019 | RCV000574288|RCV000694630|RCV000833202; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90967676 | 90967676 | | | NC_000008.10:g.90967676G>C | ClinGen:CA4802777 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1231T>C (p.Ser411Pro) | 4683 | NBN | Uncertain significance | 1563531982 | RCV003117561; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967677 | 90967677 | | | NC_000008.10:g.90967677A>G | - | | |
NM_002485.5(NBN):c.1230C>G (p.Ser410Arg) | 4683 | NBN | Uncertain significance | 878854504 | RCV000234208|RCV000579919; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967678 | 90967678 | | | NC_000008.10:g.90967678G>C | ClinGen:CA10582598 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1230C>T (p.Ser410=) | 4683 | NBN | Likely benign | 878854504 | RCV002060733; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967678 | 90967678 | | | 8:g.90967678G>A | ClinGen:CA462114985 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1229G>T (p.Ser410Ile) | 4683 | NBN | Uncertain significance | 982325971 | RCV000700924|RCV001010445; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967679 | 90967679 | | | 8:g.90967679C>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1229G>A (p.Ser410Asn) | 4683 | NBN | Uncertain significance | 982325971 | RCV000773081|RCV001856041; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967679 | 90967679 | | | NC_000008.10:g.90967679C>T | - | | |
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly) | 4683 | NBN | Uncertain significance | 1185542329 | RCV000531310|RCV002367817; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967680 | 90967680 | | | NC_000008.10:g.90967680T>C | ClinGen:CA371656315 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1227A>G (p.Thr409=) | 4683 | NBN | Likely benign | 1554559251 | RCV001405373; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967681 | 90967681 | | | NC_000008.10:g.90967681T>C | ClinGen:CA462114988 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1226C>T (p.Thr409Ile) | 4683 | NBN | Uncertain significance | 1810665559 | RCV001227281; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967682 | 90967682 | | | 8:g.90967682G>A | - | | |
NM_002485.5(NBN):c.1225del (p.Thr409fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 2129720423 | RCV001870780|RCV003470979; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967683 | 90967683 | | | 90967682 | - | | |
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) | 4683 | NBN | Benign/Likely benign | 34120922 | RCV000115778|RCV000119194|RCV000200989|RCV000588672|RCV002225329|RCV002490777|RCV003315641; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|MONDO:MONDO:0009623,MedGen:C03987 | 8 | 90967686 | 90967686 | | | 8:g.90967686T>C | ClinGen:CA151515,UniProtKB:O60934#VAR_051227 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1221C>G (p.Cys407Trp) | 4683 | NBN | Uncertain significance | -1 | RCV003055359; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967687 | 90967687 | | | NC_000008.10:g.90967687G>C | - | | |
NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr) | 4683 | NBN | Uncertain significance | 1473253247 | RCV001178736|RCV001341643; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967688 | 90967688 | | | 8:g.90967688C>T | - | | |
NM_002485.5(NBN):c.1219T>A (p.Cys407Ser) | 4683 | NBN | Uncertain significance | 1060503460 | RCV000466617|RCV003298506; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967689 | 90967689 | | | NC_000008.10:g.90967689A>T | ClinGen:CA16612666 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1218C>T (p.Ser406=) | 4683 | NBN | Likely benign | -1 | RCV003084876; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967690 | 90967690 | | | | - | | |
NM_002485.5(NBN):c.1217C>A (p.Ser406Tyr) | 4683 | NBN | Uncertain significance | 1810666233 | RCV001052606|RCV002355037; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967691 | 90967691 | | | 8:g.90967691G>T | - | | |
NM_002485.5(NBN):c.1215G>A (p.Glu405=) | 4683 | NBN | Likely benign | -1 | RCV002838616; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967693 | 90967693 | | | | - | | |
NM_002485.5(NBN):c.1213G>A (p.Glu405Lys) | 4683 | NBN | Uncertain significance | 1810666621 | RCV001323664|RCV002357158; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967695 | 90967695 | | | 90967695 | - | | |
NM_002485.5(NBN):c.1212G>A (p.Lys404=) | 4683 | NBN | Likely benign | 753212974 | RCV001461051; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967696 | 90967696 | | | 90967696 | - | | |
NM_002485.5(NBN):c.1210A>G (p.Lys404Glu) | 4683 | NBN | Uncertain significance | 761214266 | RCV002049755; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967698 | 90967698 | | | 90967698 | - | | |
NM_002485.5(NBN):c.1205_1209del (p.Thr402fs) | 4683 | NBN | Uncertain significance | 1563532144 | RCV000778865; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967699 | 90967703 | | | NC_000008.10:g.90967700_90967704del | - | | |
NM_002485.5(NBN):c.1208T>A (p.Val403Glu) | 4683 | NBN | Uncertain significance | 1554559273 | RCV001362574; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967700 | 90967700 | | | 90967700 | - | | |
NM_002485.5(NBN):c.1203_1206dup (p.Val403fs) | 4683 | NBN | Pathogenic | 1810667631 | RCV001055302; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967701 | 90967702 | | | 8:g.90967701_90967702insAGTG | - | | |
NM_002485.5(NBN):c.1206T>C (p.Thr402=) | 4683 | NBN | Likely benign | 1810667513 | RCV002560976; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967702 | 90967702 | | | 8:g.90967702A>G | - | | |
NM_002485.5(NBN):c.1204A>G (p.Thr402Ala) | 4683 | NBN | Conflicting interpretations of pathogenicity | 201373377 | RCV000167134|RCV000686355; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967704 | 90967704 | | | 8:g.90967704T>C | ClinGen:CA197574 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg) | 4683 | NBN | Uncertain significance | 104895033 | RCV000114876|RCV000131207|RCV000196440; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967706 | 90967706 | | | 8:g.90967706G>C | ClinGen:CA230732 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1202C>A (p.Pro401His) | 4683 | NBN | Uncertain significance | 104895033 | RCV000206791|RCV000217964|RCV000484365; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90967706 | 90967706 | | | 8:g.90967706G>T | ClinGen:CA350787 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1200A>G (p.Ala400=) | 4683 | NBN | Likely benign | 2129720998 | RCV001503860; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967708 | 90967708 | | | 90967708 | - | | |
NM_002485.5(NBN):c.1199C>T (p.Ala400Val) | 4683 | NBN | Uncertain significance | 779218232 | RCV000565537|RCV001835853|RCV003235291; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90967709 | 90967709 | | | 8:g.90967709G>A | ClinGen:CA4802780 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1199C>G (p.Ala400Gly) | 4683 | NBN | Uncertain significance | 779218232 | RCV001065088; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967709 | 90967709 | | | 8:g.90967709G>C | - | | |
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr) | 4683 | NBN | Conflicting interpretations of pathogenicity | 551602980 | RCV000217029|RCV000988085|RCV002478803; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90967710 | 90967710 | | | 8:g.90967710C>T | ClinGen:CA4802781 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr) | 4683 | NBN | Conflicting interpretations of pathogenicity | -1 | RCV000474157|RCV000486277|RCV001797729|RCV001805080; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967710 | 90967711 | | | NC_000008.10:g.90967710_90967711inv | ClinGen:CA16612365 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1198G>C (p.Ala400Pro) | 4683 | NBN | Uncertain significance | 551602980 | RCV000636712; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967710 | 90967710 | | | NC_000008.10:g.90967710C>G | ClinGen:CA371656374 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1197_1198delinsCT (p.Ala400Ser) | 4683 | NBN | Uncertain significance | 1064795318 | RCV000685569; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967710 | 90967711 | | | NC_000008.10:g.90967710_90967711delinsAG | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1197T>C (p.Asp399=) | 4683 | NBN | Benign | 709816 | RCV000162376|RCV000173761|RCV000322749|RCV001541313|RCV002225468|RCV003315972; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:00048 | 8 | 90967711 | 90967711 | | | 8:g.90967711A>G | ClinGen:CA186171 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1196A>G (p.Asp399Gly) | 4683 | NBN | Uncertain significance | -1 | RCV002843614; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967712 | 90967712 | | | NC_000008.10:g.90967712T>C | - | | |
NM_002485.5(NBN):c.1195G>A (p.Asp399Asn) | 4683 | NBN | Uncertain significance | 1430248021 | RCV001230933|RCV002339633; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967713 | 90967713 | | | 8:g.90967713C>T | - | | |
NM_002485.5(NBN):c.1194A>G (p.Gln398=) | 4683 | NBN | Likely benign | 200046373 | RCV000422717|RCV000581041|RCV000636755; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967714 | 90967714 | | | 8:g.90967714T>C | ClinGen:CA16605426 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1194A>C (p.Gln398His) | 4683 | NBN | Uncertain significance | 200046373 | RCV000580312|RCV000800615|RCV003465294; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967714 | 90967714 | | | NC_000008.10:g.90967714T>G | ClinGen:CA4802782 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1193A>G (p.Gln398Arg) | 4683 | NBN | Uncertain significance | 746965070 | RCV000473002|RCV000573003; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967715 | 90967715 | | | NC_000008.10:g.90967715T>C | ClinGen:CA4802783 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1192C>T (p.Gln398Ter) | 4683 | NBN | Pathogenic | 2129721263 | RCV001390505; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967716 | 90967716 | | | 90967716 | - | | |
NM_002485.5(NBN):c.1191A>G (p.Ser397=) | 4683 | NBN | Likely benign | 2129721280 | RCV001451978|RCV002342001; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967717 | 90967717 | | | 90967717 | - | | |
NM_002485.5(NBN):c.1190C>T (p.Ser397Leu) | 4683 | NBN | Uncertain significance | 1554559308 | RCV000564989|RCV002530253; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967718 | 90967718 | | | 8:g.90967718G>A | ClinGen:CA371656390 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1190C>G (p.Ser397Ter) | 4683 | NBN | Pathogenic | 1554559308 | RCV001388920; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967718 | 90967718 | | | 90967718 | - | | |
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554559308 | RCV001956253; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967718 | 90967718 | | | 90967718 | - | | |
NM_002485.5(NBN):c.1188T>C (p.Leu396=) | 4683 | NBN | Likely benign | 1554559312 | RCV000636796|RCV002334083; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967720 | 90967720 | | | 8:g.90967720A>G | ClinGen:CA462115034 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1187T>C (p.Leu396Pro) | 4683 | NBN | Uncertain significance | 182030463 | RCV001239968; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967721 | 90967721 | | | 8:g.90967721A>G | - | | |
NM_002485.5(NBN):c.1182A>G (p.Arg394=) | 4683 | NBN | Likely benign | 1586059412 | RCV000931300|RCV002336933; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967726 | 90967726 | | | 8:g.90967726T>C | - | | |
NM_002485.5(NBN):c.1181G>A (p.Arg394Lys) | 4683 | NBN | Uncertain significance | 1810670587 | RCV001221720; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967727 | 90967727 | | | 8:g.90967727C>T | - | | |
NM_002485.5(NBN):c.1180A>G (p.Arg394Gly) | 4683 | NBN | Uncertain significance | 1060503470 | RCV000466216|RCV002339187; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967728 | 90967728 | | | NC_000008.10:g.90967728T>C | ClinGen:CA16612368 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1180A>C (p.Arg394=) | 4683 | NBN | Likely benign | -1 | RCV003066056; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967728 | 90967728 | | | | - | | |
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu) | 4683 | NBN | Uncertain significance | 941732827 | RCV000468237|RCV000570523|RCV001194317|RCV001800687; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900 | 8 | 90967731 | 90967731 | | | NC_000008.10:g.90967731A>G | ClinGen:CA16612543 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1176A>G (p.Lys392=) | 4683 | NBN | Likely benign | -1 | RCV002875922; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967732 | 90967732 | | | | - | | |
NM_002485.5(NBN):c.1173A>G (p.Gln391=) | 4683 | NBN | Likely benign | 780602705 | RCV000165840|RCV000912591; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967735 | 90967735 | | | 8:g.90967735T>C | ClinGen:CA194322 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1172A>G (p.Gln391Arg) | 4683 | NBN | Uncertain significance | 201958895 | RCV000775384|RCV000808471; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967736 | 90967736 | | | NC_000008.10:g.90967736T>C | - | | |
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter) | 4683 | NBN | Pathogenic | 1554559323 | RCV000569344|RCV000694464|RCV001783067; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90967737 | 90967737 | | | 8:g.90967737G>A | ClinGen:CA371656435 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1170A>G (p.Glu390=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554559326 | RCV000541197|RCV000582045|RCV001417903; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967738 | 90967738 | | | 8:g.90967738T>C | ClinGen:CA462115050 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter) | 4683 | NBN | Pathogenic | 2129721628 | RCV001960653|RCV003289305; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967740 | 90967740 | | | 90967740 | - | | |
NM_002485.5(NBN):c.1165dup (p.Met389fs) | 4683 | NBN | Pathogenic | 2129721709 | RCV001939104; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967742 | 90967743 | | | 90967742 | - | | |
NM_002485.5(NBN):c.1166T>C (p.Met389Thr) | 4683 | NBN | Uncertain significance | 1810671504 | RCV001863630; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967742 | 90967742 | | | 90967742 | - | | |
NM_002485.5(NBN):c.1163A>G (p.Lys388Arg) | 4683 | NBN | Uncertain significance | 947104724 | RCV001727457|RCV001801008; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967745 | 90967745 | | | 90967745 | - | | |
NM_002485.5(NBN):c.1162A>G (p.Lys388Glu) | 4683 | NBN | Uncertain significance | 1252203605 | RCV000817973; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967746 | 90967746 | | | 8:g.90967746T>C | ClinGen:CA371656460 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1161C>T (p.Ser387=) | 4683 | NBN | Likely benign | 1042756575 | RCV001468322|RCV002322517; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967747 | 90967747 | | | 90967747 | - | | |
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys) | 4683 | NBN | Conflicting interpretations of pathogenicity | 747632184 | RCV000215651|RCV000699656; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967748 | 90967748 | | | 8:g.90967748G>C | ClinGen:CA4802785 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1157T>G (p.Val386Gly) | 4683 | NBN | Uncertain significance | 1810672909 | RCV001299024; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967751 | 90967751 | | | 90967751 | - | | |
NM_002485.5(NBN):c.1155dup (p.Val386fs) | 4683 | NBN | Pathogenic | 748513310 | RCV000775385|RCV001043609; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967752 | 90967753 | | | 8:g.90967752_90967753insT | - | | |
NM_002485.5(NBN):c.1156G>T (p.Val386Phe) | 4683 | NBN | Uncertain significance | 1586059509 | RCV001931939; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967752 | 90967752 | | | 90967752 | - | | |
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs) | 4683 | NBN | Pathogenic | 748513310 | RCV000636743|RCV001554322|RCV002343244|RCV003471998; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909 | 8 | 90967753 | 90967754 | | | 8:g.90967753_90967754del | ClinGen:CA4802786 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1154A>G (p.Lys385Arg) | 4683 | NBN | Uncertain significance | 769453547 | RCV000793737|RCV002343653; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967754 | 90967754 | | | 8:g.90967754T>C | - | | |
NM_002485.5(NBN):c.1153A>G (p.Lys385Glu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1563532612 | RCV000704263|RCV003153818; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500 | 8 | 90967755 | 90967755 | | | 8:g.90967755T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1152C>G (p.Ile384Met) | 4683 | NBN | Uncertain significance | 551802153 | RCV000218105|RCV001067296; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967756 | 90967756 | | | 8:g.90967756G>C | ClinGen:CA10578769 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys) | 4683 | NBN | Uncertain significance | 772909239 | RCV000528325|RCV000573284|RCV001584263; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90967761 | 90967761 | | | 8:g.90967761C>T | ClinGen:CA4802789 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1147G>C (p.Glu383Gln) | 4683 | NBN | Uncertain significance | 772909239 | RCV000573508|RCV001341050; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967761 | 90967761 | | | 8:g.90967761C>G | ClinGen:CA371656492 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 772909239 | RCV001648486|RCV001873820|RCV003470874; | N | Human Phenotype Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967761 | 90967761 | | | 90967761 | - | | |
NM_002485.5(NBN):c.1146A>C (p.Lys382Asn) | 4683 | NBN | Uncertain significance | 1554559357 | RCV000695959; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967762 | 90967762 | | | NC_000008.10:g.90967762T>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1146del (p.Glu383fs) | 4683 | NBN | Pathogenic | 1586059584 | RCV001017460|RCV001860867; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967762 | 90967762 | | | 8:g.90967762_90967762del | - | | |
NM_002485.5(NBN):c.1143A>G (p.Pro381=) | 4683 | NBN | Likely benign | 1554559361 | RCV000574971|RCV001418579; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967765 | 90967765 | | | NC_000008.10:g.90967765T>C | ClinGen:CA462114807 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1142del (p.Pro381fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 587781969 | RCV000007358|RCV000130355|RCV000220768|RCV003467143; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90967766 | 90967766 | | | 8:g.90967766_90967766del | ClinGen:CA249808,OMIM:602667.0005 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1141C>A (p.Pro381Thr) | 4683 | NBN | Uncertain significance | 2129722201 | RCV001955136; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967767 | 90967767 | | | 90967767 | - | | |
NM_002485.5(NBN):c.1140G>A (p.Arg380=) | 4683 | NBN | Likely benign | 762590883 | RCV001488935; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967768 | 90967768 | | | 8:g.90967768C>T | - | | |
NM_002485.5(NBN):c.1138A>G (p.Arg380Gly) | 4683 | NBN | Uncertain significance | 1810674788 | RCV001279847; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967770 | 90967770 | | | 8:g.90967770T>C | - | | |
NM_002485.5(NBN):c.1136A>G (p.Glu379Gly) | 4683 | NBN | Uncertain significance | 1563532732 | RCV000773942|RCV001800874; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967772 | 90967772 | | | NC_000008.10:g.90967772T>C | - | | |
NM_002485.5(NBN):c.1133G>C (p.Ser378Thr) | 4683 | NBN | Uncertain significance | 864622123 | RCV000206036|RCV000564126; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90967775 | 90967775 | | | 8:g.90967775C>G | ClinGen:CA350106 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1129T>G (p.Leu377Val) | 4683 | NBN | Uncertain significance | 587780547 | RCV000119184; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967779 | 90967779 | | | 8:g.90967779A>C | ClinGen:CA332054 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.11:g.89955556del | 4683 | NBN | Pathogenic | 2129722387 | RCV001951478; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967782 | 90967782 | | | | - | | |
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter) | 4683 | NBN | Pathogenic | 1057519588 | RCV000417077; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967783 | 90967783 | | | 8:g.90967783C>T | ClinGen:CA16044374 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1125-1G>A | 4683 | NBN | Likely pathogenic | 1057517102 | RCV000412152; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967784 | 90967784 | | | 8:g.90967784C>T | ClinGen:CA16041208 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1125-1G>C | 4683 | NBN | Likely pathogenic | -1 | RCV002894487; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967784 | 90967784 | | | NC_000008.10:g.90967784C>G | - | | |
NM_002485.5(NBN):c.1125-3C>T | 4683 | NBN | Conflicting interpretations of pathogenicity | 587781326 | RCV000129069|RCV000361912|RCV001719900; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90967786 | 90967786 | | | 8:g.90967786G>A | ClinGen:CA163760 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1125-4A>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554559375 | RCV000562845|RCV001400116; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967787 | 90967787 | | | 8:g.90967787T>C | ClinGen:CA658657802 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1125-7dup | 4683 | NBN | Benign | 2129722492 | RCV002139674; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967789 | 90967790 | | | 90967789 | - | | |
NM_002485.5(NBN):c.1125-7del | 4683 | NBN | Benign | 2129722492 | RCV002214025; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967790 | 90967790 | | | 90967789 | - | | |
NM_002485.5(NBN):c.1125-11T>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 1373365760 | RCV002202436|RCV003234167; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90967794 | 90967794 | | | 90967794 | - | | |
NM_002485.5(NBN):c.1125-13T>A | 4683 | NBN | Likely benign | 2129722556 | RCV002168240; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967796 | 90967796 | | | 90967796 | - | | |
NM_002485.5(NBN):c.1125-15T>C | 4683 | NBN | Likely benign | 2129722592 | RCV002117017; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967798 | 90967798 | | | 90967798 | - | | |
NM_002485.5(NBN):c.1125-22_1125-15del | 4683 | NBN | Likely benign | 2129722609 | RCV002169901; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967798 | 90967805 | | | 90967797 | - | | |
NM_002485.5(NBN):c.1125-16T>G | 4683 | NBN | Likely benign | -1 | RCV003110839; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967799 | 90967799 | | | NC_000008.10:g.90967799A>C | - | | |
NM_002485.5(NBN):c.1125-17C>G | 4683 | NBN | Likely benign | 772466522 | RCV002213750; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967800 | 90967800 | | | 90967800 | - | | |
NM_002485.5(NBN):c.1125-20A>G | 4683 | NBN | Likely benign | -1 | RCV002746798; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90967803 | 90967803 | | | NC_000008.10:g.90967803T>C | - | | |
NM_002485.5(NBN):c.1124+91C>A | 4683 | NBN | Benign | 1805818 | RCV001532830|RCV001712967; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90970862 | 90970862 | | | 90970862 | - | | |
NM_002485.5(NBN):c.1124+37C>G | 4683 | NBN | Likely benign | 577575764 | RCV000669068|RCV000839486; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90970916 | 90970916 | | | 8:g.90970916G>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1124+20G>A | 4683 | NBN | Benign/Likely benign | 201436502 | RCV000440520|RCV002061626; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970933 | 90970933 | | | 8:g.90970933C>T | ClinGen:CA4802800 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1124+20G>T | 4683 | NBN | Likely benign | -1 | RCV002971039; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970933 | 90970933 | | | NC_000008.10:g.90970933C>A | - | | |
NM_002485.5(NBN):c.1124+19C>T | 4683 | NBN | Benign | 13312903 | RCV000679451|RCV001515048|RCV001712598|RCV002225679|RCV003316769; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:H | 8 | 90970934 | 90970934 | | | 8:g.90970934G>A | ClinGen:CA4802801 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1124+18C>T | 4683 | NBN | Benign | 2234744 | RCV000180586|RCV001510252|RCV001610499|RCV002225493|RCV003316081; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:H | 8 | 90970935 | 90970935 | | | 8:g.90970935G>A | ClinGen:CA203743 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1124+17_1124+18delinsTT | 4683 | NBN | Likely benign | 2129744080 | RCV002209313; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970935 | 90970936 | | | 90970935 | - | | |
NM_002485.5(NBN):c.1124+14A>G | 4683 | NBN | Likely benign | -1 | RCV002695443; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970939 | 90970939 | | | NC_000008.10:g.90970939T>C | - | | |
NM_002485.5(NBN):c.1124+11_1124+13del | 4683 | NBN | Benign/Likely benign | 747584990 | RCV000604559|RCV001357707|RCV002061878; | N | MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970940 | 90970942 | | | NC_000008.10:g.90970941AAG[1] | ClinGen:CA4802802 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1124+13C>T | 4683 | NBN | Likely benign | -1 | RCV003028629; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970940 | 90970940 | | | NC_000008.10:g.90970940G>A | - | | |
NM_002485.5(NBN):c.1124+12T>C | 4683 | NBN | Likely benign | 1057521099 | RCV000419397|RCV002064988; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970941 | 90970941 | | | 8:g.90970941A>G | ClinGen:CA16605427 | CN169374 not specified; | |
NM_002485.5(NBN):c.1124+10C>T | 4683 | NBN | Likely benign | 2129744144 | RCV002220008; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970943 | 90970943 | | | 90970943 | - | | |
NC_000008.10:g.(?_90970943)_(90971092_?)dup | 4683 | NBN | Likely pathogenic | -1 | RCV003107699; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970943 | 90971092 | | | | - | | |
NM_002485.5(NBN):c.1124+9T>G | 4683 | NBN | Likely benign | 864622466 | RCV000204394|RCV000600872; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90970944 | 90970944 | | | NC_000008.10:g.90970944A>C | ClinGen:CA348627 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1124+8T>G | 4683 | NBN | Likely benign | -1 | RCV002824149; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970945 | 90970945 | | | NC_000008.10:g.90970945A>C | - | | |
NM_002485.5(NBN):c.1124+7C>T | 4683 | NBN | Likely benign | 1060504929 | RCV000461961; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970946 | 90970946 | | | NC_000008.10:g.90970946G>A | ClinGen:CA16612544 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1124+6G>T | 4683 | NBN | Conflicting interpretations of pathogenicity | 375862750 | RCV000127086|RCV000199990|RCV000587851|RCV000581770|RCV001354937; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90970947 | 90970947 | | | 8:g.90970947C>A | ClinGen:CA292413 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1124+6G>A | 4683 | NBN | Uncertain significance | 375862750 | RCV001327187; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970947 | 90970947 | | | 90970947 | - | | |
NM_002485.5(NBN):c.1124+5A>T | 4683 | NBN | Conflicting interpretations of pathogenicity | 587782108 | RCV000130624|RCV000608438|RCV000672993; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970948 | 90970948 | | | 8:g.90970948T>A | ClinGen:CA166777 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1124+4A>T | 4683 | NBN | Uncertain significance | -1 | RCV002435507|RCV003102955; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970949 | 90970949 | | | 90970949 | - | | |
NM_002485.5(NBN):c.1124+2T>G | 4683 | NBN | Likely pathogenic | 1554560352 | RCV000636717; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970951 | 90970951 | | | NC_000008.10:g.90970951A>C | ClinGen:CA371656551 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1124+1G>A | 4683 | NBN | Likely pathogenic | 1057517209 | RCV000410092; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970952 | 90970952 | | | 8:g.90970952C>T | ClinGen:CA16041209 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1124+1G>C | 4683 | NBN | Likely pathogenic | 1057517209 | RCV000569288|RCV001853723; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970952 | 90970952 | | | 8:g.90970952C>G | ClinGen:CA371656555 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter) | 4683 | NBN | Pathogenic | 1394437421 | RCV000564232|RCV001858316; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970953 | 90970953 | | | 8:g.90970953C>T | ClinGen:CA371656558 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1124G>C (p.Trp375Ser) | 4683 | NBN | Uncertain significance | 1394437421 | RCV000700128; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970953 | 90970953 | | | NC_000008.10:g.90970953C>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1122A>G (p.Thr374=) | 4683 | NBN | Likely benign | 876660925 | RCV000214358|RCV000552178|RCV001697197; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90970955 | 90970955 | | | 8:g.90970955T>C | ClinGen:CA10578770 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile) | 4683 | NBN | Uncertain significance | 1174990974 | RCV000573000|RCV000636726|RCV001560376|RCV003476319; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90970956 | 90970956 | | | 8:g.90970956G>A | ClinGen:CA371656563 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1120A>G (p.Thr374Ala) | 4683 | NBN | Uncertain significance | 1563538477 | RCV000696006|RCV002440480; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90970957 | 90970957 | | | NC_000008.10:g.90970957T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1118A>G (p.Asp373Gly) | 4683 | NBN | Uncertain significance | 1563538492 | RCV000696308; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970959 | 90970959 | | | 8:g.90970959T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1116A>G (p.Ala372=) | 4683 | NBN | Likely benign | 1810848142 | RCV001423589|RCV002255663; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90970961 | 90970961 | | | 90970961 | - | | |
NM_002485.5(NBN):c.1115C>T (p.Ala372Val) | 4683 | NBN | Uncertain significance | 587781438 | RCV001971900; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970962 | 90970962 | | | 90970962 | - | | |
NM_002485.5(NBN):c.1114G>A (p.Ala372Thr) | 4683 | NBN | Uncertain significance | 1377878017 | RCV001191157|RCV001209151; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970963 | 90970963 | | | 8:g.90970963C>T | - | | |
NM_002485.5(NBN):c.1113A>G (p.Gln371=) | 4683 | NBN | Likely benign | -1 | RCV002439414|RCV003102182; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970964 | 90970964 | | | | - | | |
NM_002485.5(NBN):c.1110G>A (p.Glu370=) | 4683 | NBN | Likely benign | 1586065611 | RCV001403760|RCV002427350; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90970967 | 90970967 | | | 8:g.90970967C>T | - | | |
NM_002485.5(NBN):c.1104_1109del (p.Ser369_Glu370del) | 4683 | NBN | Uncertain significance | 1425019959 | RCV000668774; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970968 | 90970973 | | | 8:g.90970968_90970973del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1107dup (p.Glu370fs) | 4683 | NBN | Pathogenic | 2129744712 | RCV002007159; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970969 | 90970970 | | | 90970969 | - | | |
NM_002485.5(NBN):c.1108G>A (p.Glu370Lys) | 4683 | NBN | Uncertain significance | -1 | RCV002825141; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970969 | 90970969 | | | NC_000008.10:g.90970969C>T | - | | |
NM_002485.5(NBN):c.1107A>G (p.Ser369=) | 4683 | NBN | Likely benign | 1586065630 | RCV000841659|RCV002068598|RCV002427087; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90970970 | 90970970 | | | 8:g.90970970T>C | - | | |
NM_002485.5(NBN):c.1107A>C (p.Ser369=) | 4683 | NBN | Likely benign | 1586065630 | RCV001437046; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970970 | 90970970 | | | 90970970 | - | | |
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 2129744741 | RCV001386835|RCV002476731|RCV003469725; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Ph | 8 | 90970971 | 90970971 | | | 90970971 | - | | |
NM_002485.5(NBN):c.1105T>C (p.Ser369Pro) | 4683 | NBN | Uncertain significance | 2129744768 | RCV002027847; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970972 | 90970972 | | | 90970972 | - | | |
NM_002485.5(NBN):c.1102G>C (p.Glu368Gln) | 4683 | NBN | Uncertain significance | 2129744825 | RCV002015773; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970975 | 90970975 | | | 90970975 | - | | |
NM_002485.5(NBN):c.1100C>G (p.Thr367Arg) | 4683 | NBN | Uncertain significance | 1586065643 | RCV000809117; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970977 | 90970977 | | | 8:g.90970977G>C | - | | |
NM_002485.5(NBN):c.1097A>G (p.Asp366Gly) | 4683 | NBN | Uncertain significance | 2129744939 | RCV002025884; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970980 | 90970980 | | | 90970980 | - | | |
NM_002485.5(NBN):c.1095T>C (p.Ala365=) | 4683 | NBN | Likely benign | 1554560368 | RCV000608235|RCV001017269|RCV001478909; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970982 | 90970982 | | | 8:g.90970982A>G | ClinGen:CA461828173 | CN169374 not specified; | |
NM_002485.5(NBN):c.1092A>G (p.Val364=) | 4683 | NBN | Likely benign | -1 | RCV002815240; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970985 | 90970985 | | | | - | | |
NM_002485.5(NBN):c.1091T>C (p.Val364Ala) | 4683 | NBN | Uncertain significance | 370229163 | RCV000115777|RCV000217684|RCV000700024|RCV001818277; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90970986 | 90970986 | | | 8:g.90970986A>G | ClinGen:CA287898 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1090G>A (p.Val364Ile) | 4683 | NBN | Uncertain significance | 765403660 | RCV000775386|RCV001373068; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970987 | 90970987 | | | NC_000008.10:g.90970987C>T | - | | |
NM_002485.5(NBN):c.1090G>T (p.Val364Leu) | 4683 | NBN | Uncertain significance | 765403660 | RCV001926977; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970987 | 90970987 | | | 90970987 | - | | |
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter) | 4683 | NBN | Pathogenic | 121908974 | RCV000007362|RCV003329227|RCV003472997; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90970988 | 90970988 | | | 8:g.90970988G>T | ClinGen:CA254010,OMIM:602667.0008 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 121908974 | RCV000160770|RCV000212742|RCV000724700|RCV001079308; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970988 | 90970988 | | | NC_000008.10:g.90970988G>A | ClinGen:CA248080 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter) | 4683 | NBN | Pathogenic | 121908974 | RCV001009876|RCV001800916; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970988 | 90970988 | | | 8:g.90970988G>C | - | | |
NM_002485.5(NBN):c.1086A>C (p.Thr362=) | 4683 | NBN | Likely benign | 876659734 | RCV002529268; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970991 | 90970991 | | | 8:g.90970991T>G | ClinGen:CA461828219 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1084A>G (p.Thr362Ala) | 4683 | NBN | Uncertain significance | 1810850707 | RCV001058136; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970993 | 90970993 | | | 8:g.90970993T>C | - | | |
NM_002485.5(NBN):c.1083A>G (p.Thr361=) | 4683 | NBN | Likely benign | 761042468 | RCV000575851|RCV000600187|RCV000636802|RCV001284024; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90970994 | 90970994 | | | 8:g.90970994T>C | ClinGen:CA4802807 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1082C>T (p.Thr361Ile) | 4683 | NBN | Uncertain significance | 2129745254 | RCV001371983; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970995 | 90970995 | | | 90970995 | - | | |
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala) | 4683 | NBN | Uncertain significance | 1563538728 | RCV000686541|RCV000708721|RCV002249405; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90970996 | 90970996 | | | 8:g.90970996T>C | - | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1079C>G (p.Thr360Ser) | 4683 | NBN | Uncertain significance | 879020505 | RCV001179042|RCV001751315|RCV001800956; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970998 | 90970998 | | | 8:g.90970998G>C | - | | |
NM_002485.5(NBN):c.1078A>C (p.Thr360Pro) | 4683 | NBN | Uncertain significance | 1307700838 | RCV001009860|RCV001210589; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90970999 | 90970999 | | | 8:g.90970999T>G | - | | |
NM_002485.5(NBN):c.1078A>G (p.Thr360Ala) | 4683 | NBN | Uncertain significance | 1307700838 | RCV001366863|RCV002420809; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90970999 | 90970999 | | | 90970999 | - | | |
NM_002485.5(NBN):c.1077C>T (p.Asn359=) | 4683 | NBN | Likely benign | 2129745426 | RCV001476546; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971000 | 90971000 | | | 90971000 | - | | |
NM_002485.5(NBN):c.1076A>G (p.Asn359Ser) | 4683 | NBN | Uncertain significance | 768886664 | RCV000583638|RCV000796652|RCV001764710; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90971001 | 90971001 | | | 8:g.90971001T>C | ClinGen:CA4802808 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1073T>G (p.Val358Gly) | 4683 | NBN | Uncertain significance | 1563538793 | RCV000776898|RCV001043820|RCV002222634; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90971004 | 90971004 | | | NC_000008.10:g.90971004A>C | - | | |
NM_002485.5(NBN):c.1071dup (p.Val358fs) | 4683 | NBN | Pathogenic | 2129745554 | RCV001648487|RCV001882742; | N | Human Phenotype Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971005 | 90971006 | | | 90971005 | - | | |
NM_002485.5(NBN):c.1072del (p.Pro357_Val358insTer) | 4683 | NBN | Pathogenic | 2129745511 | RCV002007172; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971005 | 90971005 | | | 90971004 | - | | |
NM_002485.5(NBN):c.1071A>G (p.Pro357=) | 4683 | NBN | Likely benign | 1810852191 | RCV002172169; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971006 | 90971006 | | | 90971006 | - | | |
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr) | 4683 | NBN | Uncertain significance | 777259845 | RCV000215331|RCV000539852|RCV000759885|RCV000780526; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374 | 8 | 90971011 | 90971011 | | | 8:g.90971011C>T | ClinGen:CA4802809 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1066G>T (p.Ala356Ser) | 4683 | NBN | Uncertain significance | -1 | RCV002303969; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971011 | 90971011 | | | 90971011 | - | | |
NM_002485.5(NBN):c.1065C>T (p.Ser355=) | 4683 | NBN | Likely benign | 876659205 | RCV000218724|RCV000457869|RCV000588266; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90971012 | 90971012 | | | 8:g.90971012G>A | ClinGen:CA10578773 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1065C>A (p.Ser355Arg) | 4683 | NBN | Uncertain significance | -1 | RCV002672188; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971012 | 90971012 | | | NC_000008.10:g.90971012G>T | - | | |
NM_002485.5(NBN):c.1064G>A (p.Ser355Asn) | 4683 | NBN | Uncertain significance | -1 | RCV003031590; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971013 | 90971013 | | | NC_000008.10:g.90971013C>T | - | | |
NM_002485.5(NBN):c.1063A>G (p.Ser355Gly) | 4683 | NBN | Uncertain significance | 762376159 | RCV000484152|RCV000527248|RCV001009794; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90971014 | 90971014 | | | 8:g.90971014T>C | ClinGen:CA4802810 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1063A>T (p.Ser355Cys) | 4683 | NBN | Uncertain significance | 762376159 | RCV001188076|RCV001326911; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971014 | 90971014 | | | 8:g.90971014T>A | - | | |
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu) | 4683 | NBN | Uncertain significance | 1354459986 | RCV000566751|RCV001788291|RCV001800779; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971016 | 90971016 | | | NC_000008.10:g.90971016G>A | ClinGen:CA371656688 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser) | 4683 | NBN | Uncertain significance | 1064794336 | RCV000479772|RCV000550823|RCV002481512; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; Hum | 8 | 90971017 | 90971017 | | | 8:g.90971017G>A | ClinGen:CA16618701 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1060C>G (p.Pro354Ala) | 4683 | NBN | Uncertain significance | 1064794336 | RCV000776899|RCV001069235; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971017 | 90971017 | | | NC_000008.10:g.90971017G>C | - | | |
NM_002485.5(NBN):c.1058T>C (p.Met353Thr) | 4683 | NBN | Uncertain significance | 1028462350 | RCV000562581|RCV001829602; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971019 | 90971019 | | | 8:g.90971019A>G | ClinGen:CA181263712 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1057A>C (p.Met353Leu) | 4683 | NBN | Uncertain significance | 864622489 | RCV000206611; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971020 | 90971020 | | | 8:g.90971020T>G | ClinGen:CA350623 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1057A>G (p.Met353Val) | 4683 | NBN | Uncertain significance | 864622489 | RCV002005703|RCV003348716; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90971020 | 90971020 | | | 90971020 | - | | |
NM_002485.5(NBN):c.1056A>G (p.Leu352=) | 4683 | NBN | Likely benign | 369092711 | RCV000217297|RCV000585958|RCV000855560|RCV001086458; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971021 | 90971021 | | | 8:g.90971021T>C | ClinGen:CA4802812 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1054C>T (p.Leu352=) | 4683 | NBN | Likely benign | 1586065915 | RCV001493988; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971023 | 90971023 | | | 8:g.90971023G>A | - | | |
NM_002485.5(NBN):c.1053A>G (p.Lys351=) | 4683 | NBN | Likely benign | 1810854037 | RCV002173646; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971024 | 90971024 | | | 90971024 | - | | |
NM_002485.5(NBN):c.1046A>T (p.Asp349Val) | 4683 | NBN | Uncertain significance | 876659431 | RCV000216015|RCV001035544; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971031 | 90971031 | | | 8:g.90971031T>A | ClinGen:CA10578775 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1044del (p.Asp349fs) | 4683 | NBN | Pathogenic | -1 | RCV002824531; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971033 | 90971033 | | | NC_000008.10:g.90971034del | - | | |
NM_002485.5(NBN):c.1043T>C (p.Val348Ala) | 4683 | NBN | Uncertain significance | 876660929 | RCV000221225|RCV001229616|RCV002262811; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90971034 | 90971034 | | | 8:g.90971034A>G | ClinGen:CA10578776 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1042G>A (p.Val348Ile) | 4683 | NBN | Uncertain significance | 1586065979 | RCV001009784|RCV001041103; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971035 | 90971035 | | | 8:g.90971035C>T | - | | |
NM_002485.5(NBN):c.1042G>C (p.Val348Leu) | 4683 | NBN | Uncertain significance | -1 | RCV003008079; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971035 | 90971035 | | | NC_000008.10:g.90971035C>G | - | | |
NM_002485.5(NBN):c.1041A>C (p.Ser347=) | 4683 | NBN | Likely benign | 1586065991 | RCV001009775|RCV001461102; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971036 | 90971036 | | | 8:g.90971036T>G | - | | |
NM_002485.5(NBN):c.1038_1039dup (p.Ser347fs) | 4683 | NBN | Pathogenic | 1554560432 | RCV000467574; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971037 | 90971038 | | | NC_000008.10:g.90971038AC[3] | ClinGen:CA16612493 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1039T>C (p.Ser347Pro) | 4683 | NBN | Uncertain significance | 1563539035 | RCV000705012; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971038 | 90971038 | | | NC_000008.10:g.90971038A>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1037T>C (p.Val346Ala) | 4683 | NBN | Uncertain significance | 2129746243 | RCV001954313; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971040 | 90971040 | | | 90971040 | - | | |
NM_002485.5(NBN):c.1036G>A (p.Val346Met) | 4683 | NBN | Conflicting interpretations of pathogenicity | 200297914 | RCV000115776|RCV000212741|RCV000589164|RCV001082179|RCV001255161|RCV001293998|RCV001355371; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:13 | 8 | 90971041 | 90971041 | | | 8:g.90971041C>T | ClinGen:CA287895 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1035C>T (p.Gly345=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 146605798 | RCV000115775|RCV000587475|RCV001081028|RCV001818276; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90971042 | 90971042 | | | 8:g.90971042G>A | ClinGen:CA287892 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1035C>A (p.Gly345=) | 4683 | NBN | Likely benign | 146605798 | RCV000234576|RCV002392694; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90971042 | 90971042 | | | 8:g.90971042G>T | ClinGen:CA10582599 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) | 4683 | NBN | Uncertain significance | 587780089 | RCV000115774|RCV000212740|RCV000476299|RCV000764783; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90971043 | 90971043 | | | 8:g.90971043C>A | ClinGen:CA287889 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1034G>A (p.Gly345Asp) | 4683 | NBN | Uncertain significance | 587780089 | RCV001215264; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971043 | 90971043 | | | 8:g.90971043C>T | - | | |
NM_002485.5(NBN):c.1034G>C (p.Gly345Ala) | 4683 | NBN | Uncertain significance | 587780089 | RCV001981168; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971043 | 90971043 | | | 90971043 | - | | |
NM_002485.5(NBN):c.1032A>G (p.Gln344=) | 4683 | NBN | Likely benign | 1159161073 | RCV001009733|RCV002550754; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971045 | 90971045 | | | 8:g.90971045T>C | - | | |
NM_002485.5(NBN):c.1031A>G (p.Gln344Arg) | 4683 | NBN | Uncertain significance | 2129746440 | RCV001997786; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971046 | 90971046 | | | 90971046 | - | | |
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 767215758 | RCV000170448|RCV000220210|RCV000446931|RCV000763607|RCV003474919; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90971047 | 90971047 | | | NC_000008.10:g.90971047G>A | ClinGen:CA274767,ClinVar:424713 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1028C>T (p.Ser343Leu) | 4683 | NBN | Uncertain significance | 1810856747 | RCV001227540; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971049 | 90971049 | | | 8:g.90971049G>A | - | | |
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter) | 4683 | NBN | Pathogenic | 1810856747 | RCV002002429|RCV002386816; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90971049 | 90971049 | | | 90971049 | - | | |
NM_002485.5(NBN):c.1027T>C (p.Ser343Pro) | 4683 | NBN | Uncertain significance | 530636519 | RCV000570503|RCV001858196; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971050 | 90971050 | | | 8:g.90971050A>G | ClinGen:CA4802814 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1025T>G (p.Leu342Arg) | 4683 | NBN | Uncertain significance | 1810857038 | RCV001978526; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971052 | 90971052 | | | 90971052 | - | | |
NM_002485.5(NBN):c.1024C>T (p.Leu342Phe) | 4683 | NBN | Uncertain significance | 587782656 | RCV000132071|RCV001228079; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971053 | 90971053 | | | 8:g.90971053G>A | ClinGen:CA169196 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) | 4683 | NBN | Conflicting interpretations of pathogenicity | 756023239 | RCV000230649|RCV000446226|RCV001770195|RCV001818596|RCV003469157; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90971054 | 90971054 | | | NC_000008.10:g.90971054G>C | ClinGen:CA4802815 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1022G>A (p.Ser341Asn) | 4683 | NBN | Uncertain significance | -1 | RCV003017958|RCV003308416; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90971055 | 90971055 | | | NC_000008.10:g.90971055C>T | - | | |
NM_002485.5(NBN):c.1020A>G (p.Pro340=) | 4683 | NBN | Likely benign | 864622077 | RCV000204268|RCV000572279|RCV000602747; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90971057 | 90971057 | | | 8:g.90971057T>C | ClinGen:CA348512 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1018C>T (p.Pro340Ser) | 4683 | NBN | Uncertain significance | 1586066127 | RCV001369510; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971059 | 90971059 | | | 90971059 | - | | |
NM_002485.5(NBN):c.1018C>G (p.Pro340Ala) | 4683 | NBN | Uncertain significance | 1586066127 | RCV001910765; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971059 | 90971059 | | | 90971059 | - | | |
NM_002485.5(NBN):c.1017A>C (p.Gly339=) | 4683 | NBN | Likely benign | 2129746806 | RCV001464107; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971060 | 90971060 | | | 90971060 | - | | |
NM_002485.5(NBN):c.1013C>T (p.Pro338Leu) | 4683 | NBN | Uncertain significance | 2129746873 | RCV001988952; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971064 | 90971064 | | | 90971064 | - | | |
NM_002485.5(NBN):c.1012C>T (p.Pro338Ser) | 4683 | NBN | Uncertain significance | 1554560467 | RCV000534490|RCV000574017|RCV001264446; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90971065 | 90971065 | | | NC_000008.10:g.90971065G>A | ClinGen:CA371656787 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1012C>A (p.Pro338Thr) | 4683 | NBN | Uncertain significance | 1554560467 | RCV001034829|RCV003346256; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90971065 | 90971065 | | | 8:g.90971065G>T | - | | |
NM_002485.5(NBN):c.1005AAC[3] (p.Thr337dup) | 4683 | NBN | Uncertain significance | 770500095 | RCV000166078|RCV000465315|RCV000483396; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90971066 | 90971067 | | | 8:g.90971066_90971067insGTT | ClinGen:CA194936 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1011T>C (p.Thr337=) | 4683 | NBN | Likely benign | -1 | RCV003028759; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971066 | 90971066 | | | | - | | |
NM_002485.5(NBN):c.1005AAC[1] (p.Thr337del) | 4683 | NBN | Uncertain significance | 770500095 | RCV000636749|RCV000759884|RCV000771590|RCV003403462; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 8 | 90971067 | 90971069 | | | 8:g.90971067_90971069del | ClinGen:CA4802816 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.1010C>T (p.Thr337Ile) | 4683 | NBN | Uncertain significance | 1335655343 | RCV000773596|RCV000806130; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971067 | 90971067 | | | NC_000008.10:g.90971067G>A | - | | |
NM_002485.5(NBN):c.1009A>G (p.Thr337Ala) | 4683 | NBN | Uncertain significance | 1554560492 | RCV000586602|RCV001304203|RCV002438527; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90971068 | 90971068 | | | NC_000008.10:g.90971068T>C | ClinGen:CA371656794 | CN517202 not provided; | |
NM_002485.5(NBN):c.1008A>T (p.Thr336=) | 4683 | NBN | Likely benign | 786201619 | RCV000163982|RCV000200113|RCV000442818|RCV001812142; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900 | 8 | 90971069 | 90971069 | | | 8:g.90971069T>A | ClinGen:CA189702 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1008A>C (p.Thr336=) | 4683 | NBN | Likely benign | -1 | RCV003055571; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971069 | 90971069 | | | | - | | |
NM_002485.5(NBN):c.1007C>T (p.Thr336Ile) | 4683 | NBN | Uncertain significance | 876660218 | RCV000220662|RCV002515698; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971070 | 90971070 | | | 8:g.90971070G>A | ClinGen:CA10578778 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.1006A>G (p.Thr336Ala) | 4683 | NBN | Uncertain significance | 1554560506 | RCV000582203|RCV001056610; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971071 | 90971071 | | | 8:g.90971071T>C | ClinGen:CA371656799 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.995-23_998inv | 4683 | NBN | Likely pathogenic | -1 | RCV002027045|RCV002463104|RCV003475295; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90971079 | 90971105 | | | 90971079 | - | | |
NM_002485.5(NBN):c.996A>G (p.Gly332=) | 4683 | NBN | Likely benign | 2129747152 | RCV001399426; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971081 | 90971081 | | | 90971081 | - | | |
NM_002485.5(NBN):c.995G>A (p.Gly332Glu) | 4683 | NBN | Likely pathogenic | 2129747182 | RCV001377833; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971082 | 90971082 | | | 90971082 | - | | |
NM_002485.5(NBN):c.995-1G>C | 4683 | NBN | Likely pathogenic | 1554560523 | RCV000554271; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971083 | 90971083 | | | NC_000008.10:g.90971083C>G | ClinGen:CA371656826 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.995-1G>T | 4683 | NBN | Likely pathogenic | 1554560523 | RCV001214272; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971083 | 90971083 | | | 8:g.90971083C>A | - | | |
NM_002485.5(NBN):c.995-2A>G | 4683 | NBN | Pathogenic/Likely pathogenic | 876659521 | RCV000231563|RCV000223218|RCV000481197|RCV003475021|RCV003407753; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90971084 | 90971084 | | | 8:g.90971084T>C | ClinGen:CA10578779 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.995-2A>C | 4683 | NBN | Likely pathogenic | 876659521 | RCV000669315; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971084 | 90971084 | | | 8:g.90971084T>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.995-3C>T | 4683 | NBN | Uncertain significance | -1 | RCV002382933|RCV003094907; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971085 | 90971085 | | | 90971085 | - | | |
NM_002485.5(NBN):c.995-4A>G | 4683 | NBN | Likely benign | 2129747280 | RCV002113593; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971086 | 90971086 | | | 90971086 | - | | |
NM_002485.5(NBN):c.995-5T>C | 4683 | NBN | Likely benign | 2129747292 | RCV001481456; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971087 | 90971087 | | | 90971087 | - | | |
NM_002485.5(NBN):c.995-6T>A | 4683 | NBN | Uncertain significance | 1810859804 | RCV001318546; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971088 | 90971088 | | | 90971088 | - | | |
NM_002485.5(NBN):c.995-6T>G | 4683 | NBN | Likely benign | -1 | RCV003074432; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971088 | 90971088 | | | NC_000008.10:g.90971088A>C | - | | |
NM_002485.5(NBN):c.995-8A>C | 4683 | NBN | Likely benign | 2129747346 | RCV002156455; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971090 | 90971090 | | | 90971090 | - | | |
NM_002485.5(NBN):c.995-9G>A | 4683 | NBN | Likely benign | 1586066252 | RCV001438148; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971091 | 90971091 | | | 8:g.90971091C>T | - | | |
NM_002485.5(NBN):c.995-12T>C | 4683 | NBN | Likely benign | 1057521081 | RCV001712223|RCV002525330; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971094 | 90971094 | | | 8:g.90971094A>G | ClinGen:CA16605513 | CN169374 not specified; | |
NM_002485.5(NBN):c.995-13G>A | 4683 | NBN | Likely benign | 1329972460 | RCV002061891; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971095 | 90971095 | | | NC_000008.10:g.90971095C>T | ClinGen:CA583372741 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.995-13G>C | 4683 | NBN | Likely benign | 1329972460 | RCV002074203; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971095 | 90971095 | | | 90971095 | - | | |
NM_002485.5(NBN):c.995-15T>G | 4683 | NBN | Uncertain significance | 1563539377 | RCV001937964; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971097 | 90971097 | | | 90971097 | - | | |
NM_002485.5(NBN):c.995-16C>T | 4683 | NBN | Likely benign | 777288661 | RCV002069197; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971098 | 90971098 | | | 8:g.90971098G>A | - | | |
NM_002485.5(NBN):c.995-17A>G | 4683 | NBN | Benign/Likely benign | 372875251 | RCV000436340|RCV002061443|RCV002488884|RCV003316525; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Hum | 8 | 90971099 | 90971099 | | | 8:g.90971099T>C | ClinGen:CA4802819 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.995-18T>G | 4683 | NBN | Likely benign | 1165001297 | RCV002145974; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971100 | 90971100 | | | 90971100 | - | | |
NM_002485.5(NBN):c.995-29TTCT[2] | 4683 | NBN | Likely benign | -1 | RCV003063174; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971100 | 90971103 | | | NC_000008.10:g.90971100AGAA[2] | - | | |
NM_002485.5(NBN):c.995-19C>A | 4683 | NBN | Likely benign | 2129747549 | RCV002097027; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971101 | 90971101 | | | 90971101 | - | | |
NM_002485.5(NBN):c.995-20T>C | 4683 | NBN | Likely benign | 1810861105 | RCV002075462; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90971102 | 90971102 | | | 90971102 | - | | |
NM_002485.5(NBN):c.994+233G>A | 4683 | NBN | Benign | 6990969 | RCV001532831|RCV001655816; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90976405 | 90976405 | | | 90976405 | - | | |
NM_002485.5(NBN):c.994+20A>G | 4683 | NBN | Benign/Likely benign | 756077531 | RCV001712600|RCV002061890; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976618 | 90976618 | | | NC_000008.10:g.90976618T>C | ClinGen:CA4802836 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.994+16T>C | 4683 | NBN | Likely benign | -1 | RCV002876802; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976622 | 90976622 | | | NC_000008.10:g.90976622A>G | - | | |
NM_002485.5(NBN):c.994+15A>G | 4683 | NBN | Likely benign | 1282981376 | RCV002061889; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976623 | 90976623 | | | NC_000008.10:g.90976623T>C | ClinGen:CA583373654 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.994+14T>C | 4683 | NBN | Likely benign | -1 | RCV002875967; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976624 | 90976624 | | | NC_000008.10:g.90976624A>G | - | | |
NM_002485.5(NBN):c.994+11C>T | 4683 | NBN | Likely benign | 377076593 | RCV002061100; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976627 | 90976627 | | | NC_000008.10:g.90976627G>A | - | | |
NM_002485.5(NBN):c.994+10G>A | 4683 | NBN | Likely benign | 753761865 | RCV000542625; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976628 | 90976628 | | | 8:g.90976628C>T | ClinGen:CA4802838 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.994+9A>G | 4683 | NBN | Likely benign | 559438888 | RCV000937972; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976629 | 90976629 | | | NC_000008.10:g.90976629T>C | ClinGen:CA4802839 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.994+8A>T | 4683 | NBN | Likely benign | 2129785103 | RCV002085781; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976630 | 90976630 | | | 90976630 | - | | |
NM_002485.5(NBN):c.994+7G>T | 4683 | NBN | Likely benign | 2129785123 | RCV001484989; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976631 | 90976631 | | | 90976631 | - | | |
NM_002485.5(NBN):c.994+6T>C | 4683 | NBN | Uncertain significance | 1811141291 | RCV001344471; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976632 | 90976632 | | | 90976632 | - | | |
NM_002485.5(NBN):c.994+5T>C | 4683 | NBN | Uncertain significance | 778254433 | RCV000546426|RCV000574546; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976633 | 90976633 | | | 8:g.90976633A>G | ClinGen:CA4802840 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.994+5T>A | 4683 | NBN | Uncertain significance | 778254433 | RCV001902947; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976633 | 90976633 | | | 90976633 | - | | |
NM_002485.5(NBN):c.992_994+3del | 4683 | NBN | Pathogenic | 1563548315 | RCV000705673; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976635 | 90976640 | | | 8:g.90976635_90976640del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.994+2T>C | 4683 | NBN | Likely pathogenic | 1586075690 | RCV002026037|RCV002386888; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976636 | 90976636 | | | 90976636 | - | | |
NM_002485.5(NBN):c.994+1G>T | 4683 | NBN | Likely pathogenic | 1554562083 | RCV000553121|RCV000755042|RCV003328595|RCV003459221; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90976637 | 90976637 | | | NC_000008.10:g.90976637C>A | ClinGen:CA371656834 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.994G>A (p.Gly332Arg) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1437392838 | RCV002019619|RCV003348737; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976638 | 90976638 | | | 90976638 | - | | |
NM_002485.5(NBN):c.993A>G (p.Thr331=) | 4683 | NBN | Uncertain significance | 876659523 | RCV000220138|RCV000636711; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976639 | 90976639 | | | 8:g.90976639T>C | ClinGen:CA10578780 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.992C>G (p.Thr331Arg) | 4683 | NBN | Uncertain significance | 587782905 | RCV000132550|RCV001371455; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976640 | 90976640 | | | 8:g.90976640G>C | ClinGen:CA170056 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.992C>T (p.Thr331Ile) | 4683 | NBN | Uncertain significance | 587782905 | RCV001904344; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976640 | 90976640 | | | 90976640 | - | | |
NM_002485.5(NBN):c.990T>C (p.Ser330=) | 4683 | NBN | Likely benign | 1482013266 | RCV000636807|RCV002386024; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976642 | 90976642 | | | NC_000008.10:g.90976642A>G | ClinGen:CA461830708 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.989G>A (p.Ser330Asn) | 4683 | NBN | Uncertain significance | 1811142330 | RCV001347087|RCV002384482; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976643 | 90976643 | | | 90976643 | - | | |
NM_002485.5(NBN):c.988A>G (p.Ser330Gly) | 4683 | NBN | Uncertain significance | 1554562092 | RCV000525614; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976644 | 90976644 | | | NC_000008.10:g.90976644T>C | ClinGen:CA371656849 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.987C>T (p.Pro329=) | 4683 | NBN | Likely benign | 1586075751 | RCV001498898; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976645 | 90976645 | | | 8:g.90976645G>A | - | | |
NM_002485.5(NBN):c.987C>G (p.Pro329=) | 4683 | NBN | Likely benign | -1 | RCV002833165; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976645 | 90976645 | | | | - | | |
NM_002485.5(NBN):c.986C>T (p.Pro329Leu) | 4683 | NBN | Uncertain significance | 1386471248 | RCV000561487|RCV001038610; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976646 | 90976646 | | | NC_000008.10:g.90976646G>A | ClinGen:CA371656852 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.986C>A (p.Pro329His) | 4683 | NBN | Uncertain significance | 1386471248 | RCV001052277; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976646 | 90976646 | | | 8:g.90976646G>T | - | | |
NM_002485.5(NBN):c.983A>G (p.His328Arg) | 4683 | NBN | Uncertain significance | 1554562099 | RCV000636754|RCV000776635; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976649 | 90976649 | | | NC_000008.10:g.90976649T>C | ClinGen:CA371656861 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.983A>T (p.His328Leu) | 4683 | NBN | Uncertain significance | 1554562099 | RCV001978498; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976649 | 90976649 | | | 90976649 | - | | |
NM_002485.5(NBN):c.980G>T (p.Gly327Val) | 4683 | NBN | Uncertain significance | 1586075779 | RCV000793085; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976652 | 90976652 | | | 8:g.90976652C>A | - | | |
NM_002485.5(NBN):c.979_980del (p.Gly327fs) | 4683 | NBN | Pathogenic | -1 | RCV003025362; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976652 | 90976653 | | | NC_000008.10:g.90976653_90976654del | - | | |
NM_002485.5(NBN):c.978G>A (p.Gln326=) | 4683 | NBN | Likely benign | -1 | RCV003026057; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976654 | 90976654 | | | | - | | |
NM_002485.5(NBN):c.977A>G (p.Gln326Arg) | 4683 | NBN | Conflicting interpretations of pathogenicity | 876659586 | RCV000217834|RCV001853581; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976655 | 90976655 | | | 8:g.90976655T>C | ClinGen:CA10578781 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) | 4683 | NBN | Pathogenic | 121908973 | RCV000007359|RCV000166946; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976656 | 90976656 | | | 8:g.90976656G>A | ClinGen:CA197104,OMIM:602667.0006 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.976C>G (p.Gln326Glu) | 4683 | NBN | Uncertain significance | 121908973 | RCV000688246|RCV001176635|RCV001280672|RCV002485614|RCV003128640; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MON | 8 | 90976656 | 90976656 | | | 8:g.90976656G>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.975T>G (p.Pro325=) | 4683 | NBN | Likely benign | 2129785634 | RCV001455235; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976657 | 90976657 | | | 90976657 | - | | |
NM_002485.5(NBN):c.974del (p.Pro325fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554562110 | RCV000657467|RCV001390697|RCV003472056; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90976658 | 90976658 | | | NC_000008.10:g.90976659del | - | CN517202 not provided; | |
NM_002485.5(NBN):c.974C>T (p.Pro325Leu) | 4683 | NBN | Uncertain significance | 1586075820 | RCV001019699|RCV001325038; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976658 | 90976658 | | | 8:g.90976658G>A | - | | |
NM_002485.5(NBN):c.973C>T (p.Pro325Ser) | 4683 | NBN | Uncertain significance | 2129785733 | RCV002012770|RCV003303594; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976659 | 90976659 | | | 90976659 | - | | |
NM_002485.5(NBN):c.969T>C (p.Cys323=) | 4683 | NBN | Likely benign | 773860553 | RCV000214170|RCV001391768; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976663 | 90976663 | | | 8:g.90976663A>G | ClinGen:CA10578782 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.968G>A (p.Cys323Tyr) | 4683 | NBN | Uncertain significance | 730881848 | RCV000160785|RCV000766497|RCV001054949|RCV001019625; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976664 | 90976664 | | | NC_000008.10:g.90976664C>T | ClinGen:CA299608 | CN169374 not specified; | |
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer) | 4683 | NBN | Pathogenic/Likely pathogenic | 1811144443 | RCV001218260|RCV003462739; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90976665 | 90976666 | | | 8:g.90976665_90976666del | - | | |
NM_002485.5(NBN):c.966C>T (p.Tyr322=) | 4683 | NBN | Likely benign | 748453607 | RCV000163106|RCV000204762|RCV000429218; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90976666 | 90976666 | | | 8:g.90976666G>A | ClinGen:CA187456 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter) | 4683 | NBN | Pathogenic | 748453607 | RCV000804176|RCV001564018; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 | 8 | 90976666 | 90976666 | | | 8:g.90976666G>C | - | | |
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter) | 4683 | NBN | Pathogenic | 748453607 | RCV001994742|RCV003475215; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90976666 | 90976666 | | | 90976666 | - | | |
NM_002485.5(NBN):c.964T>G (p.Tyr322Asp) | 4683 | NBN | Uncertain significance | 1554562123 | RCV000636768; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976668 | 90976668 | | | NC_000008.10:g.90976668A>C | ClinGen:CA371656928 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.962dup (p.Asn321fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002306534; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976669 | 90976670 | | | 90976669 | - | | |
NM_002485.5(NBN):c.962del (p.Asn321fs) | 4683 | NBN | Likely pathogenic | 1586075907 | RCV001004532|RCV003467574; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90976670 | 90976670 | | | 8:g.90976670_90976670del | - | | |
NM_002485.5(NBN):c.960G>A (p.Lys320=) | 4683 | NBN | Likely benign | 1554562125 | RCV000541417; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976672 | 90976672 | | | 8:g.90976672C>T | ClinGen:CA461830723 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.960G>T (p.Lys320Asn) | 4683 | NBN | Uncertain significance | 1554562125 | RCV001019574|RCV001048929; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976672 | 90976672 | | | 8:g.90976672C>A | - | | |
NM_002485.5(NBN):c.958A>G (p.Lys320Glu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1563548624 | RCV000773117|RCV001800872|RCV002249473; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90976674 | 90976674 | | | NC_000008.10:g.90976674T>C | - | | |
NM_002485.5(NBN):c.957A>G (p.Thr319=) | 4683 | NBN | Likely benign | 1586075933 | RCV002215182; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976675 | 90976675 | | | 90976675 | - | | |
NM_002485.5(NBN):c.956C>T (p.Thr319Ile) | 4683 | NBN | Uncertain significance | -1 | RCV003045956; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976676 | 90976676 | | | NC_000008.10:g.90976676G>A | - | | |
NM_002485.5(NBN):c.955A>G (p.Thr319Ala) | 4683 | NBN | Uncertain significance | 876659969 | RCV000213401|RCV000213476|RCV000685781; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976677 | 90976677 | | | 8:g.90976677T>C | ClinGen:CA10577367 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.954T>A (p.Thr318=) | 4683 | NBN | Likely benign | 1554562137 | RCV000572721|RCV001447864; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976678 | 90976678 | | | 8:g.90976678A>T | ClinGen:CA461830729 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.954T>C (p.Thr318=) | 4683 | NBN | Likely benign | 1554562137 | RCV000562302|RCV002060400; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976678 | 90976678 | | | 8:g.90976678A>G | ClinGen:CA461830728 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.953C>T (p.Thr318Ile) | 4683 | NBN | Uncertain significance | 1811146292 | RCV001181020|RCV001365455; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976679 | 90976679 | | | 8:g.90976679G>A | - | | |
NM_002485.5(NBN):c.952A>T (p.Thr318Ser) | 4683 | NBN | Uncertain significance | 1811146499 | RCV001048315|RCV002372803; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976680 | 90976680 | | | 8:g.90976680T>A | - | | |
NM_002485.5(NBN):c.951G>A (p.Met317Ile) | 4683 | NBN | Uncertain significance | 1586075972 | RCV001019444|RCV001827198; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976681 | 90976681 | | | 8:g.90976681C>T | - | | |
NM_002485.5(NBN):c.950T>C (p.Met317Thr) | 4683 | NBN | Uncertain significance | 1586075983 | RCV001019435|RCV001221194; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976682 | 90976682 | | | 8:g.90976682A>G | - | | |
NM_002485.5(NBN):c.949A>G (p.Met317Val) | 4683 | NBN | Conflicting interpretations of pathogenicity | 587782502 | RCV000131642|RCV000477065|RCV000485286; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90976683 | 90976683 | | | 8:g.90976683T>C | ClinGen:CA168521 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.949A>T (p.Met317Leu) | 4683 | NBN | Uncertain significance | 587782502 | RCV000819960; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976683 | 90976683 | | | NC_000008.10:g.90976683T>A | ClinGen:CA371656983 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.948C>T (p.Phe316=) | 4683 | NBN | Likely benign | 1429467104 | RCV002191741; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976684 | 90976684 | | | 90976684 | - | | |
NM_002485.5(NBN):c.943A>G (p.Ile315Val) | 4683 | NBN | Uncertain significance | 878854517 | RCV000228792|RCV002444895; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976689 | 90976689 | | | NC_000008.10:g.90976689T>C | ClinGen:CA10582600 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.942G>A (p.Val314=) | 4683 | NBN | Likely benign | 749757928 | RCV000218132|RCV000636804|RCV001705218; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90976690 | 90976690 | | | 8:g.90976690C>T | ClinGen:CA4802845 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.942G>C (p.Val314=) | 4683 | NBN | Likely benign | 749757928 | RCV002194906; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976690 | 90976690 | | | 90976690 | - | | |
NM_002485.5(NBN):c.941T>A (p.Val314Glu) | 4683 | NBN | Uncertain significance | 771086262 | RCV000806235; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976691 | 90976691 | | | 8:g.90976691A>T | - | | |
NM_002485.5(NBN):c.940G>A (p.Val314Met) | 4683 | NBN | Uncertain significance | 529845940 | RCV000130348|RCV000464039|RCV000781636|RCV002469021|RCV003467142; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90976692 | 90976692 | | | 8:g.90976692C>T | ClinGen:CA166244 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.939G>A (p.Ala313=) | 4683 | NBN | Benign/Likely benign | 145750430 | RCV000127084|RCV000212728|RCV000679469|RCV001083723|RCV003315819; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontolog | 8 | 90976693 | 90976693 | | | 8:g.90976693C>T | ClinGen:CA292409 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.939G>T (p.Ala313=) | 4683 | NBN | Likely benign | 145750430 | RCV000636808; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976693 | 90976693 | | | NC_000008.10:g.90976693C>A | ClinGen:CA461830736 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.938C>T (p.Ala313Val) | 4683 | NBN | Uncertain significance | 730881862 | RCV000160802|RCV000204213|RCV000656927|RCV001358619|RCV001420902|RCV003467266; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,Med | 8 | 90976694 | 90976694 | | | NC_000008.10:g.90976694G>A | ClinGen:CA247602 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.937G>T (p.Ala313Ser) | 4683 | NBN | Uncertain significance | 876660584 | RCV000215710|RCV000690052; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976695 | 90976695 | | | 8:g.90976695C>A | ClinGen:CA10578783 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.937G>A (p.Ala313Thr) | 4683 | NBN | Uncertain significance | -1 | RCV002373846|RCV003094798; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976695 | 90976695 | | | 90976695 | - | | |
NM_002485.5(NBN):c.936G>A (p.Leu312=) | 4683 | NBN | Likely benign | 148517156 | RCV000165907|RCV000608763|RCV000936747; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976696 | 90976696 | | | 8:g.90976696C>T | ClinGen:CA194497 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.936G>C (p.Leu312Phe) | 4683 | NBN | Uncertain significance | 148517156 | RCV000216349|RCV001800569; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976696 | 90976696 | | | 8:g.90976696C>G | ClinGen:CA10578784 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.935T>C (p.Leu312Ser) | 4683 | NBN | Uncertain significance | 371480039 | RCV000132302|RCV000528665|RCV001557142|RCV003474787; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90976697 | 90976697 | | | 8:g.90976697A>G | ClinGen:CA169602 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.935T>A (p.Leu312Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 371480039 | RCV000544042; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976697 | 90976697 | | | 8:g.90976697A>T | ClinGen:CA371657029 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.934T>C (p.Leu312=) | 4683 | NBN | Likely benign | 1811149387 | RCV002069190; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976698 | 90976698 | | | 8:g.90976698A>G | - | | |
NM_002485.5(NBN):c.933A>T (p.Gly311=) | 4683 | NBN | Likely benign | 2129786626 | RCV002568810; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976699 | 90976699 | | | 90976699 | - | | |
NM_002485.5(NBN):c.932G>A (p.Gly311Glu) | 4683 | NBN | Uncertain significance | 1563548856 | RCV000777081|RCV000806728|RCV001539258; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90976700 | 90976700 | | | NC_000008.10:g.90976700C>T | - | | |
NM_002485.5(NBN):c.932G>T (p.Gly311Val) | 4683 | NBN | Uncertain significance | 1563548856 | RCV001019179|RCV001800929; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976700 | 90976700 | | | 8:g.90976700C>A | - | | |
NM_002485.5(NBN):c.930T>A (p.Ile310=) | 4683 | NBN | Likely benign | 142813526 | RCV000162715|RCV000197141|RCV000426080|RCV001355085|RCV001704157; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:C3661900 | 8 | 90976702 | 90976702 | | | 8:g.90976702A>T | ClinGen:CA186790 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.930T>C (p.Ile310=) | 4683 | NBN | Likely benign | 142813526 | RCV000570297|RCV001505330; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976702 | 90976702 | | | NC_000008.10:g.90976702A>G | ClinGen:CA461830741 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) | 4683 | NBN | Uncertain significance | 753812768 | RCV000233897|RCV000570742|RCV002478858|RCV003469159; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C00 | 8 | 90976703 | 90976703 | | | 8:g.90976703A>G | ClinGen:CA4802847 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.927A>T (p.Glu309Asp) | 4683 | NBN | Uncertain significance | 1811150445 | RCV001237958; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976705 | 90976705 | | | 8:g.90976705T>A | - | | |
NM_002485.5(NBN):c.925G>A (p.Glu309Lys) | 4683 | NBN | Uncertain significance | 587780101 | RCV000214503|RCV000588924|RCV000636751|RCV003474715; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90976707 | 90976707 | | | 8:g.90976707C>T | ClinGen:CA287953 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.900_924del (p.Gly301fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1057519587 | RCV000417085|RCV002374624|RCV003470374; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90976708 | 90976732 | | | 8:g.90976708_90976732del | ClinGen:CA16044377 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.924A>G (p.Ala308=) | 4683 | NBN | Likely benign | 1554562173 | RCV000570003|RCV000603058|RCV001444812; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976708 | 90976708 | | | 8:g.90976708T>C | ClinGen:CA461830744 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.923C>G (p.Ala308Gly) | 4683 | NBN | Uncertain significance | 1554562176 | RCV000547926|RCV000570689; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976709 | 90976709 | | | NC_000008.10:g.90976709G>C | ClinGen:CA371657069 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.923C>T (p.Ala308Val) | 4683 | NBN | Uncertain significance | 1554562176 | RCV001237853; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976709 | 90976709 | | | 8:g.90976709G>A | - | | |
NM_002485.5(NBN):c.921A>G (p.Glu307=) | 4683 | NBN | Likely benign | 1554562180 | RCV000535455; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976711 | 90976711 | | | NC_000008.10:g.90976711T>C | ClinGen:CA461830746 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.920A>T (p.Glu307Val) | 4683 | NBN | Uncertain significance | 2129786912 | RCV001995215; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976712 | 90976712 | | | 90976712 | - | | |
NM_002485.5(NBN):c.920A>C (p.Glu307Ala) | 4683 | NBN | Uncertain significance | -1 | RCV003070426; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976712 | 90976712 | | | NC_000008.10:g.90976712T>G | - | | |
NM_002485.5(NBN):c.919G>C (p.Glu307Gln) | 4683 | NBN | Uncertain significance | 1554562182 | RCV000527251; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976713 | 90976713 | | | NC_000008.10:g.90976713C>G | ClinGen:CA371657091 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.919G>A (p.Glu307Lys) | 4683 | NBN | Uncertain significance | 1554562182 | RCV002044887; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976713 | 90976713 | | | 90976713 | - | | |
NM_002485.5(NBN):c.917del (p.Pro306fs) | 4683 | NBN | Pathogenic | 1554562185 | RCV000569950|RCV000705860; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976715 | 90976715 | | | 8:g.90976715_90976715del | ClinGen:CA658657803 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.917C>T (p.Pro306Leu) | 4683 | NBN | Uncertain significance | 1563548981 | RCV000818441|RCV002372322; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976715 | 90976715 | | | 8:g.90976715G>A | - | | |
NM_002485.5(NBN):c.916C>T (p.Pro306Ser) | 4683 | NBN | Uncertain significance | 1811151665 | RCV001350978; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976716 | 90976716 | | | 90976716 | - | | |
NM_002485.5(NBN):c.914T>C (p.Ile305Thr) | 4683 | NBN | Uncertain significance | 1586076225 | RCV001018920|RCV001192405|RCV001800927|RCV002281146; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90976718 | 90976718 | | | 8:g.90976718A>G | - | | |
NM_002485.5(NBN):c.913A>C (p.Ile305Leu) | 4683 | NBN | Uncertain significance | 1554562189 | RCV000551269|RCV002377046; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976719 | 90976719 | | | 8:g.90976719T>G | ClinGen:CA371657117 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.911C>G (p.Pro304Arg) | 4683 | NBN | Uncertain significance | 536965870 | RCV000217672|RCV000706657|RCV001354721; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90976721 | 90976721 | | | 8:g.90976721G>C | ClinGen:CA10578785 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.911C>T (p.Pro304Leu) | 4683 | NBN | Uncertain significance | 536965870 | RCV000231105|RCV000583221; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976721 | 90976721 | | | 8:g.90976721G>A | ClinGen:CA4802848 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.911del (p.Pro304fs) | 4683 | NBN | Pathogenic | 1563549036 | RCV000690767; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976721 | 90976721 | | | 8:g.90976721_90976721del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.910C>A (p.Pro304Thr) | 4683 | NBN | Uncertain significance | 2129787141 | RCV001371724; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976722 | 90976722 | | | 90976722 | - | | |
NM_002485.5(NBN):c.906T>C (p.Leu302=) | 4683 | NBN | Likely benign | 2129787176 | RCV001408420; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976726 | 90976726 | | | 90976726 | - | | |
NM_002485.5(NBN):c.904C>G (p.Leu302Val) | 4683 | NBN | Uncertain significance | 2129787198 | RCV001974966; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976728 | 90976728 | | | 90976728 | - | | |
NM_002485.5(NBN):c.902G>A (p.Gly301Asp) | 4683 | NBN | Uncertain significance | 749857140 | RCV000579648|RCV001367833; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976730 | 90976730 | | | NC_000008.10:g.90976730C>T | ClinGen:CA4802850 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.902G>T (p.Gly301Val) | 4683 | NBN | Uncertain significance | 749857140 | RCV002021511|RCV003236921; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90976730 | 90976730 | | | 90976730 | - | | |
NM_002485.5(NBN):c.901G>C (p.Gly301Arg) | 4683 | NBN | Uncertain significance | 1280333137 | RCV000636753|RCV002377381; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976731 | 90976731 | | | NC_000008.10:g.90976731C>G | ClinGen:CA371657160 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.901G>A (p.Gly301Ser) | 4683 | NBN | Uncertain significance | 1280333137 | RCV001970940; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976731 | 90976731 | | | 90976731 | - | | |
NM_002485.5(NBN):c.900A>T (p.Gln300His) | 4683 | NBN | Uncertain significance | 1811152792 | RCV001068601; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976732 | 90976732 | | | 8:g.90976732T>A | - | | |
NM_002485.5(NBN):c.900A>G (p.Gln300=) | 4683 | NBN | Likely benign | 1811152792 | RCV002114320; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976732 | 90976732 | | | 90976732 | - | | |
NM_002485.5(NBN):c.899A>G (p.Gln300Arg) | 4683 | NBN | Uncertain significance | 758070132 | RCV001018596|RCV001238397; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976733 | 90976733 | | | 8:g.90976733T>C | - | | |
NM_002485.5(NBN):c.897G>A (p.Arg299=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 779798363 | RCV000816520|RCV001018584|RCV001564380; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90976735 | 90976735 | | | 8:g.90976735C>T | - | | |
NM_002485.5(NBN):c.897-1G>A | 4683 | NBN | Likely pathogenic | 1586076299 | RCV001018577|RCV001873311; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976736 | 90976736 | | | 8:g.90976736C>T | - | | |
NM_002485.5(NBN):c.897-2A>T | 4683 | NBN | Likely pathogenic | 864622090 | RCV000204744|RCV000222760|RCV001567181|RCV002057048|RCV003401102|RCV003474977; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotyp | 8 | 90976737 | 90976737 | | | 8:g.90976737T>A | ClinGen:CA348947 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.897-2A>G | 4683 | NBN | Likely pathogenic | 864622090 | RCV000793764; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976737 | 90976737 | | | 8:g.90976737T>C | - | | |
NM_002485.5(NBN):c.897-3T>C | 4683 | NBN | Uncertain significance | 2129787405 | RCV002001094|RCV003289349; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976738 | 90976738 | | | 90976738 | - | | |
NM_002485.5(NBN):c.897-5A>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 1586076321 | RCV000927067|RCV002445037; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90976740 | 90976740 | | | 8:g.90976740T>C | - | | |
NM_002485.5(NBN):c.897-5A>C | 4683 | NBN | Likely benign | -1 | RCV002871396; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976740 | 90976740 | | | NC_000008.10:g.90976740T>G | - | | |
NM_002485.5(NBN):c.897-11_897-6del | 4683 | NBN | Uncertain significance | 1586076334 | RCV000791762; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976741 | 90976746 | | | 8:g.90976741_90976746del | - | | |
NM_002485.5(NBN):c.897-7del | 4683 | NBN | Likely benign | 2129787510 | RCV002169680; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976742 | 90976742 | | | 90976741 | - | | |
NM_002485.5(NBN):c.897-8T>C | 4683 | NBN | Likely benign | 2129787526 | RCV002184277; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976743 | 90976743 | | | 90976743 | - | | |
NM_002485.5(NBN):c.897-10A>G | 4683 | NBN | Likely benign | 1563549139 | RCV000899135; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976745 | 90976745 | | | NC_000008.10:g.90976745T>C | - | | |
NM_002485.5(NBN):c.897-10A>T | 4683 | NBN | Likely benign | -1 | RCV002594099; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976745 | 90976745 | | | NC_000008.10:g.90976745T>A | - | | |
NM_002485.5(NBN):c.897-14T>C | 4683 | NBN | Likely benign | 2129787557 | RCV002183193; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976749 | 90976749 | | | 90976749 | - | | |
NM_002485.5(NBN):c.897-19_897-15del | 4683 | NBN | Likely benign | -1 | RCV002790201; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976750 | 90976754 | | | NC_000008.10:g.90976752_90976756del | - | | |
NM_002485.5(NBN):c.897-16T>C | 4683 | NBN | Likely benign | -1 | RCV003054123; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976751 | 90976751 | | | NC_000008.10:g.90976751A>G | - | | |
NM_002485.5(NBN):c.897-18dup | 4683 | NBN | Likely benign | 957902993 | RCV000486530|RCV002063695; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976752 | 90976753 | | | 8:g.90976752_90976753insT | ClinGen:CA16618702 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.897-23_897-20del | 4683 | NBN | Likely benign | 2129787608 | RCV002219149; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90976755 | 90976758 | | | 90976754 | - | | |
NM_002485.5(NBN):c.896+19T>C | 4683 | NBN | Likely benign | -1 | RCV002819906; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982573 | 90982573 | | | NC_000008.10:g.90982573A>G | - | | |
NM_002485.5(NBN):c.896+18A>G | 4683 | NBN | Likely benign | -1 | RCV002746304; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982574 | 90982574 | | | NC_000008.10:g.90982574T>C | - | | |
NM_002485.5(NBN):c.896+14C>A | 4683 | NBN | Likely benign | 1468311992 | RCV001850969; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982578 | 90982578 | | | NC_000008.10:g.90982578G>T | - | | |
NM_002485.5(NBN):c.896+13T>G | 4683 | NBN | Benign/Likely benign | 376695206 | RCV001354282|RCV001637094|RCV002061888; | N | MONDO:MONDO:0007254,MedGen:C0006142|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982579 | 90982579 | | | 8:g.90982579A>C | ClinGen:CA4802872 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.896+13T>C | 4683 | NBN | Likely benign | 376695206 | RCV000609233|RCV002061887; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982579 | 90982579 | | | 8:g.90982579A>G | ClinGen:CA658683513 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.896+10dup | 4683 | NBN | Likely benign | 763938484 | RCV000480951|RCV002056786; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982581 | 90982582 | | | 8:g.90982581_90982582insA | ClinGen:CA4802873 | CN169374 not specified; | |
NC_000008.10:g.(?_90982582)_(90990561_?)del | 4683 | NBN | Pathogenic | -1 | RCV001987471; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982582 | 90990561 | | | -1 | - | | |
NC_000008.10:g.(?_90982582)_(90983528_?)del | 4683 | NBN | Uncertain significance | -1 | RCV001940139; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982582 | 90983528 | | | -1 | - | | |
NC_000008.10:g.(?_90982582)_(90996789_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV003107701; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982582 | 90996789 | | | | - | | |
NM_002485.5(NBN):c.896+8A>G | 4683 | NBN | Likely benign | 2129826754 | RCV002157929; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982584 | 90982584 | | | 90982584 | - | | |
NM_002485.5(NBN):c.896+7A>G | 4683 | NBN | Likely benign | 1060504926 | RCV000469470; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982585 | 90982585 | | | NC_000008.10:g.90982585T>C | ClinGen:CA16612494 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.896+6G>A | 4683 | NBN | Likely benign | 1811448021 | RCV001068639; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982586 | 90982586 | | | 8:g.90982586C>T | - | | |
NM_002485.5(NBN):c.896+6G>T | 4683 | NBN | Uncertain significance | 1811448021 | RCV001364836; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982586 | 90982586 | | | 90982586 | - | | |
NM_002485.5(NBN):c.896+4T>C | 4683 | NBN | Benign/Likely benign | 190843577 | RCV000216736|RCV000444040|RCV000533968|RCV001800556; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90982588 | 90982588 | | | 8:g.90982588A>G | ClinGen:CA4802874 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.896+4T>A | 4683 | NBN | Uncertain significance | 190843577 | RCV001362922; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982588 | 90982588 | | | 90982588 | - | | |
NM_002485.5(NBN):c.896+3A>T | 4683 | NBN | Uncertain significance | 1158019133 | RCV000811397; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982589 | 90982589 | | | 8:g.90982589T>A | - | | |
NM_002485.5(NBN):c.896+3A>G | 4683 | NBN | Uncertain significance | 1158019133 | RCV001243395; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982589 | 90982589 | | | 8:g.90982589T>C | - | | |
NM_002485.5(NBN):c.896+2T>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 754659423 | RCV000815940|RCV002442734|RCV003467475; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90982590 | 90982590 | | | 8:g.90982590A>G | - | | |
NM_002485.5(NBN):c.896+1G>T | 4683 | NBN | Likely pathogenic | 778306619 | RCV001377438; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982591 | 90982591 | | | NC_000008.10:g.90982591C>A | - | | |
NM_002485.5(NBN):c.896+1G>A | 4683 | NBN | Likely pathogenic | 778306619 | RCV001873158|RCV003166060|RCV003465700; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90982591 | 90982591 | | | NC_000008.10:g.90982591C>T | - | | |
NM_002485.5(NBN):c.895A>C (p.Arg299=) | 4683 | NBN | Uncertain significance | 1554563784 | RCV000557925|RCV002448666; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982593 | 90982593 | | | NC_000008.10:g.90982593T>G | ClinGen:CA461830778 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.890T>C (p.Leu297Pro) | 4683 | NBN | Uncertain significance | 757787958 | RCV001906713; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982598 | 90982598 | | | 90982598 | - | | |
NM_002485.5(NBN):c.889C>T (p.Leu297Phe) | 4683 | NBN | Uncertain significance | -1 | RCV003058200; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982599 | 90982599 | | | NC_000008.10:g.90982599G>A | - | | |
NM_002485.5(NBN):c.886A>G (p.Met296Val) | 4683 | NBN | Uncertain significance | 1241439290 | RCV001993863; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982602 | 90982602 | | | 90982602 | - | | |
NM_002485.5(NBN):c.885T>C (p.Asp295=) | 4683 | NBN | Likely benign | 2129827145 | RCV001401177; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982603 | 90982603 | | | 90982603 | - | | |
NM_002485.5(NBN):c.884A>T (p.Asp295Val) | 4683 | NBN | Uncertain significance | 1208423434 | RCV000636707|RCV002377380; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982604 | 90982604 | | | NC_000008.10:g.90982604T>A | ClinGen:CA371658217 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.884A>C (p.Asp295Ala) | 4683 | NBN | Uncertain significance | 1208423434 | RCV000776271|RCV000808308; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982604 | 90982604 | | | NC_000008.10:g.90982604T>G | - | | |
NM_002485.5(NBN):c.884A>G (p.Asp295Gly) | 4683 | NBN | Uncertain significance | 1208423434 | RCV001360434|RCV002377512; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982604 | 90982604 | | | 90982604 | - | | |
NM_002485.5(NBN):c.882G>C (p.Met294Ile) | 4683 | NBN | Uncertain significance | 1811450172 | RCV001236570|RCV002447181|RCV003473810; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90982606 | 90982606 | | | 8:g.90982606C>G | - | | |
NM_002485.5(NBN):c.881T>C (p.Met294Thr) | 4683 | NBN | Uncertain significance | 779346343 | RCV000478839|RCV001036229|RCV002446933; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982607 | 90982607 | | | 8:g.90982607A>G | ClinGen:CA4802879 | CN169374 not specified; | |
NM_002485.5(NBN):c.880A>T (p.Met294Leu) | 4683 | NBN | Uncertain significance | 746381477 | RCV000166860|RCV000478151|RCV000545234; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982608 | 90982608 | | | 8:g.90982608T>A | ClinGen:CA196894 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.879A>G (p.Ile293Met) | 4683 | NBN | Uncertain significance | 1811450612 | RCV001224280; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982609 | 90982609 | | | 8:g.90982609T>C | - | | |
NM_002485.5(NBN):c.877A>G (p.Ile293Val) | 4683 | NBN | Uncertain significance | 1283506577 | RCV001018310|RCV001055556; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982611 | 90982611 | | | 8:g.90982611T>C | - | | |
NM_002485.5(NBN):c.877del (p.Ser292_Ile293insTer) | 4683 | NBN | Pathogenic | 1811450828 | RCV001068095; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982611 | 90982611 | | | 8:g.90982611_90982611del | - | | |
NM_002485.5(NBN):c.876A>C (p.Ser292=) | 4683 | NBN | Likely benign | 2129827371 | RCV001461167; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982612 | 90982612 | | | 90982612 | - | | |
NM_002485.5(NBN):c.875C>T (p.Ser292Leu) | 4683 | NBN | Uncertain significance | 1811450946 | RCV001208143|RCV002375149; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982613 | 90982613 | | | 8:g.90982613G>A | - | | |
NM_002485.5(NBN):c.874T>C (p.Ser292Pro) | 4683 | NBN | Uncertain significance | 876660700 | RCV000219392|RCV000537309; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982614 | 90982614 | | | 8:g.90982614A>G | ClinGen:CA10578787 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.873G>A (p.Gln291=) | 4683 | NBN | Likely benign | 786202939 | RCV000166014|RCV000432451|RCV001484767; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982615 | 90982615 | | | 8:g.90982615C>T | ClinGen:CA194775 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.872dup (p.Ser292fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1563559078 | RCV000698778|RCV001565743|RCV001189634|RCV003472227; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90982615 | 90982616 | | | 8:g.90982615_90982616insT | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.873G>C (p.Gln291His) | 4683 | NBN | Uncertain significance | 786202939 | RCV001958530; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982615 | 90982615 | | | 90982615 | - | | |
NM_002485.5(NBN):c.872A>G (p.Gln291Arg) | 4683 | NBN | Uncertain significance | 587778547 | RCV000121623|RCV000583974|RCV000666592; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982616 | 90982616 | | | 8:g.90982616T>C | ClinGen:CA160996 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.871C>T (p.Gln291Ter) | 4683 | NBN | Pathogenic | 1554563822 | RCV000656225|RCV001387363; | N | Human Phenotype Ontology:HP:0001587,Human Phenotype Ontology:HP:0008209,Human Phenotype Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982617 | 90982617 | | | 8:g.90982617G>A | ClinGen:CA371658288 | C0025322 Premature ovarian insufficiency; | |
NM_002485.5(NBN):c.867G>T (p.Trp289Cys) | 4683 | NBN | Uncertain significance | 1060503475 | RCV000475235|RCV003168857; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982621 | 90982621 | | | NC_000008.10:g.90982621C>A | ClinGen:CA16612369 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.866G>T (p.Trp289Leu) | 4683 | NBN | Uncertain significance | 876660117 | RCV000223412|RCV001205387; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982622 | 90982622 | | | 8:g.90982622C>A | ClinGen:CA10578788 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.865T>A (p.Trp289Arg) | 4683 | NBN | Uncertain significance | 1563559145 | RCV000698816; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982623 | 90982623 | | | NC_000008.10:g.90982623A>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.865T>G (p.Trp289Gly) | 4683 | NBN | Uncertain significance | 1563559145 | RCV000687801|RCV002369842; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982623 | 90982623 | | | 8:g.90982623A>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.864A>G (p.Lys288=) | 4683 | NBN | Likely benign | 1554563842 | RCV000562626|RCV000636806|RCV001591323; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90982624 | 90982624 | | | NC_000008.10:g.90982624T>C | ClinGen:CA461830790 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.857dup (p.Lys287fs) | 4683 | NBN | Pathogenic | -1 | RCV003051559; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982630 | 90982631 | | | NC_000008.10:g.90982631dup | - | | |
NM_002485.5(NBN):c.857A>G (p.Gln286Arg) | 4683 | NBN | Uncertain significance | 1586086458 | RCV002004780|RCV002442938|RCV002484785; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C00 | 8 | 90982631 | 90982631 | | | 90982631 | - | | |
NM_002485.5(NBN):c.855T>A (p.Cys285Ter) | 4683 | NBN | Pathogenic | -1 | RCV003029514; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982633 | 90982633 | | | NC_000008.10:g.90982633A>T | - | | |
NM_002485.5(NBN):c.854G>C (p.Cys285Ser) | 4683 | NBN | Conflicting interpretations of pathogenicity | 863224715 | RCV000196198|RCV001017981; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982634 | 90982634 | | | NC_000008.10:g.90982634C>G | ClinGen:CA336228 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.851_854del (p.Asp284fs) | 4683 | NBN | Pathogenic | 2129827880 | RCV001923743; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982634 | 90982637 | | | 90982633 | - | | |
NM_002485.5(NBN):c.853T>G (p.Cys285Gly) | 4683 | NBN | Uncertain significance | 1563559186 | RCV000698817; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982635 | 90982635 | | | NC_000008.10:g.90982635A>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.852C>G (p.Asp284Glu) | 4683 | NBN | Uncertain significance | 2129827918 | RCV001938265; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982636 | 90982636 | | | 90982636 | - | | |
NM_002485.5(NBN):c.851A>G (p.Asp284Gly) | 4683 | NBN | Uncertain significance | 772176894 | RCV000792912|RCV002442616; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982637 | 90982637 | | | 8:g.90982637T>C | - | | |
NM_002485.5(NBN):c.851A>T (p.Asp284Val) | 4683 | NBN | Uncertain significance | -1 | RCV002576699; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982637 | 90982637 | | | NC_000008.10:g.90982637T>A | - | | |
NM_002485.5(NBN):c.848C>A (p.Pro283His) | 4683 | NBN | Uncertain significance | 1554563853 | RCV000636760|RCV002257884; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982640 | 90982640 | | | 8:g.90982640G>T | ClinGen:CA371658429 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.848del (p.Pro283fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 2129827996 | RCV001993209|RCV003348687; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982640 | 90982640 | | | 90982639 | - | | |
NM_002485.5(NBN):c.847C>T (p.Pro283Ser) | 4683 | NBN | Uncertain significance | 1811453358 | RCV001226182|RCV002447134; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982641 | 90982641 | | | 8:g.90982641G>A | - | | |
NM_002485.5(NBN):c.842dup (p.Leu281fs) | 4683 | NBN | Pathogenic | 864309669 | RCV000007357|RCV003343598; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982645 | 90982646 | | | NC_000008.10:g.90982647dup | ClinGen:CA278581,OMIM:602667.0004 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.843A>G (p.Leu281=) | 4683 | NBN | Likely benign | 1586086525 | RCV001017773|RCV001456162; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982645 | 90982645 | | | 8:g.90982645T>C | - | | |
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) | 4683 | NBN | Pathogenic | 786205135 | RCV000170447|RCV000772328|RCV003398875|RCV003468849; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90982646 | 90982646 | | | NC_000008.10:g.90982646A>C | ClinGen:CA334800,ClinVar:424713 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.836_839del (p.Gln279fs) | 4683 | NBN | Pathogenic | 864309668 | RCV000007356; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982649 | 90982652 | | | NC_000008.10:g.90982651_90982654del | ClinGen:CA278580,OMIM:602667.0003 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.839C>T (p.Thr280Ile) | 4683 | NBN | Conflicting interpretations of pathogenicity | 2129828243 | RCV001763149|RCV002440854|RCV002540321; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982649 | 90982649 | | | 90982649 | - | | |
NM_002485.5(NBN):c.837G>A (p.Gln279=) | 4683 | NBN | Likely benign | 896641519 | RCV001394750; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982651 | 90982651 | | | 90982651 | - | | |
NM_002485.5(NBN):c.836A>C (p.Gln279Pro) | 4683 | NBN | Uncertain significance | 864622116 | RCV000206209|RCV000999050|RCV001017610; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982652 | 90982652 | | | 8:g.90982652T>G | ClinGen:CA350268 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.836del (p.Gln279fs) | 4683 | NBN | Pathogenic | 1554563878 | RCV000533541; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982652 | 90982652 | | | NC_000008.10:g.90982652del | ClinGen:CA658657805 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.836A>G (p.Gln279Arg) | 4683 | NBN | Uncertain significance | 864622116 | RCV001036872|RCV001772214|RCV002434431; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982652 | 90982652 | | | 8:g.90982652T>C | - | | |
NM_002485.5(NBN):c.835C>G (p.Gln279Glu) | 4683 | NBN | Uncertain significance | 1586086585 | RCV000812872|RCV002257980; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982653 | 90982653 | | | 8:g.90982653G>C | - | | |
NM_002485.5(NBN):c.832_835del (p.Ser278fs) | 4683 | NBN | Pathogenic | -1 | RCV003034998; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982653 | 90982656 | | | NC_000008.10:g.90982655_90982658del | - | | |
NM_002485.5(NBN):c.834A>T (p.Ser278=) | 4683 | NBN | Likely benign | 2129828382 | RCV001437876; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982654 | 90982654 | | | 90982654 | - | | |
NM_002485.5(NBN):c.832T>G (p.Ser278Ala) | 4683 | NBN | Uncertain significance | 1225178489 | RCV000589829|RCV000772494|RCV000701071|RCV001355653; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90982656 | 90982656 | | | 8:g.90982656A>C | ClinGen:CA371658496 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.832T>C (p.Ser278Pro) | 4683 | NBN | Uncertain significance | 1225178489 | RCV002536652; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982656 | 90982656 | | | NC_000008.10:g.90982656A>G | - | | |
NM_002485.5(NBN):c.831C>T (p.Asn277=) | 4683 | NBN | Likely benign | -1 | RCV002856998; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982657 | 90982657 | | | | - | | |
NM_002485.5(NBN):c.830A>C (p.Asn277Thr) | 4683 | NBN | Uncertain significance | 876658579 | RCV002425337|RCV001990315; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982658 | 90982658 | | | 90982658 | - | | |
NM_002485.5(NBN):c.829A>G (p.Asn277Asp) | 4683 | NBN | Uncertain significance | 1563559349 | RCV000777331|RCV001058594; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982659 | 90982659 | | | NC_000008.10:g.90982659T>C | - | | |
NM_002485.5(NBN):c.827C>G (p.Thr276Arg) | 4683 | NBN | Uncertain significance | 864622304 | RCV000205187|RCV000219109|RCV000759889; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90982661 | 90982661 | | | 8:g.90982661G>C | ClinGen:CA349372 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.826A>T (p.Thr276Ser) | 4683 | NBN | Uncertain significance | 1554563895 | RCV000574393|RCV000813090|RCV003470831; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90982662 | 90982662 | | | 8:g.90982662T>A | ClinGen:CA371658517 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.826A>G (p.Thr276Ala) | 4683 | NBN | Uncertain significance | 1554563895 | RCV000574259|RCV002528147; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982662 | 90982662 | | | 8:g.90982662T>C | ClinGen:CA371658518 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.825A>G (p.Ile275Met) | 4683 | NBN | Uncertain significance | 2129828602 | RCV001368730; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982663 | 90982663 | | | 90982663 | - | | |
NM_002485.5(NBN):c.822A>G (p.Gly274=) | 4683 | NBN | Likely benign | 1270883453 | RCV000557452|RCV001027304; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982666 | 90982666 | | | NC_000008.10:g.90982666T>C | ClinGen:CA461830815 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.822A>C (p.Gly274=) | 4683 | NBN | Likely benign | 1270883453 | RCV001496966; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982666 | 90982666 | | | 90982666 | - | | |
NM_002485.5(NBN):c.821G>A (p.Gly274Glu) | 4683 | NBN | Uncertain significance | -1 | RCV003021852; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982667 | 90982667 | | | NC_000008.10:g.90982667C>T | - | | |
NM_002485.5(NBN):c.820G>A (p.Gly274Arg) | 4683 | NBN | Uncertain significance | 540837864 | RCV000165067|RCV001324635; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982668 | 90982668 | | | 8:g.90982668C>T | ClinGen:CA192429 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.819A>T (p.Thr273=) | 4683 | NBN | Benign/Likely benign | 147660518 | RCV000123220|RCV000163635|RCV001357412|RCV001711398; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:C3661900 | 8 | 90982669 | 90982669 | | | 8:g.90982669T>A | ClinGen:CA188811 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.819A>G (p.Thr273=) | 4683 | NBN | Likely benign | 147660518 | RCV002186621; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982669 | 90982669 | | | 90982669 | - | | |
NM_002485.5(NBN):c.817dup (p.Thr273fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 730881839 | RCV000160766|RCV000258971|RCV001226188|RCV003467257; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90982670 | 90982671 | | | NC_000008.10:g.90982671dup | ClinGen:CA299574 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.818C>T (p.Thr273Ile) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554563912 | RCV000636779|RCV001525443; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982670 | 90982670 | | | NC_000008.10:g.90982670G>A | ClinGen:CA371658541 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.818C>A (p.Thr273Lys) | 4683 | NBN | Uncertain significance | 1554563912 | RCV001231194; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982670 | 90982670 | | | 8:g.90982670G>T | - | | |
NM_002485.5(NBN):c.817A>G (p.Thr273Ala) | 4683 | NBN | Uncertain significance | -1 | RCV002580759; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982671 | 90982671 | | | NC_000008.10:g.90982671T>C | - | | |
NM_002485.5(NBN):c.816T>C (p.Asp272=) | 4683 | NBN | Likely benign | 1811457608 | RCV002154303|RCV002427703; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982672 | 90982672 | | | 90982672 | - | | |
NM_002485.5(NBN):c.815A>G (p.Asp272Gly) | 4683 | NBN | Uncertain significance | 730881847 | RCV000160784|RCV001045936|RCV001027233; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982673 | 90982673 | | | NC_000008.10:g.90982673T>C | ClinGen:CA299605 | CN517202 not provided; | |
NM_002485.5(NBN):c.813T>C (p.Val271=) | 4683 | NBN | Likely benign | 1811458034 | RCV001404317; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982675 | 90982675 | | | 90982675 | - | | |
NM_002485.5(NBN):c.812T>C (p.Val271Ala) | 4683 | NBN | Uncertain significance | 1811458181 | RCV001306375|RCV002418928; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982676 | 90982676 | | | 90982676 | - | | |
NM_002485.5(NBN):c.812T>G (p.Val271Gly) | 4683 | NBN | Uncertain significance | 1811458181 | RCV001322580; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982676 | 90982676 | | | 90982676 | - | | |
NM_002485.5(NBN):c.811G>A (p.Val271Ile) | 4683 | NBN | Uncertain significance | 876659388 | RCV000213119|RCV000704308; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982677 | 90982677 | | | 8:g.90982677C>T | ClinGen:CA10578791 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.811G>T (p.Val271Phe) | 4683 | NBN | Uncertain significance | 876659388 | RCV000567422|RCV001220365; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982677 | 90982677 | | | 8:g.90982677C>A | ClinGen:CA371658567 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.810T>G (p.Val270=) | 4683 | NBN | Likely benign | 1431420897 | RCV002115318|RCV002416430; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982678 | 90982678 | | | 90982678 | - | | |
NM_002485.5(NBN):c.808_809del (p.Val270fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 786202490 | RCV000165330|RCV000205978|RCV000480505|RCV003462169; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90982679 | 90982680 | | | 8:g.90982679_90982680del | ClinGen:CA193101 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.809T>C (p.Val270Ala) | 4683 | NBN | Uncertain significance | 1811458659 | RCV001219534; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982679 | 90982679 | | | 8:g.90982679A>G | - | | |
NM_002485.5(NBN):c.808G>A (p.Val270Ile) | 4683 | NBN | Uncertain significance | 1811458935 | RCV001070998; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982680 | 90982680 | | | 8:g.90982680C>T | - | | |
NM_002485.5(NBN):c.806G>A (p.Cys269Tyr) | 4683 | NBN | Uncertain significance | 768822147 | RCV000234276|RCV001027137; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982682 | 90982682 | | | NC_000008.10:g.90982682C>T | ClinGen:CA10582601 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.806G>C (p.Cys269Ser) | 4683 | NBN | Uncertain significance | 768822147 | RCV000709062; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982682 | 90982682 | | | 8:g.90982682C>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.806G>T (p.Cys269Phe) | 4683 | NBN | Uncertain significance | 768822147 | RCV000809056; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982682 | 90982682 | | | 8:g.90982682C>A | - | | |
NM_002485.5(NBN):c.805T>C (p.Cys269Arg) | 4683 | NBN | Uncertain significance | -1 | RCV002304299; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982683 | 90982683 | | | 90982683 | - | | |
NM_002485.5(NBN):c.804G>A (p.Thr268=) | 4683 | NBN | Benign/Likely benign | 141443872 | RCV000162556|RCV000230367|RCV000432490|RCV002225473|RCV002478496|RCV003315978; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|MedGen:C3661900|Human Phenotype Ontology:HP:00048 | 8 | 90982684 | 90982684 | | | 8:g.90982684C>T | ClinGen:CA186463 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.804G>T (p.Thr268=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 141443872 | RCV000544774|RCV001328442|RCV002413489; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982684 | 90982684 | | | NC_000008.10:g.90982684C>A | ClinGen:CA461830826 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.804G>C (p.Thr268=) | 4683 | NBN | Likely benign | 141443872 | RCV002061886|RCV003352928; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982684 | 90982684 | | | 8:g.90982684C>G | ClinGen:CA461830827 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.803C>T (p.Thr268Met) | 4683 | NBN | Uncertain significance | 535602436 | RCV000160801|RCV000212738|RCV000465872|RCV000999051|RCV002484999|RCV003467265; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90982685 | 90982685 | | | 8:g.90982685G>A | ClinGen:CA299651 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.803del (p.Thr268fs) | 4683 | NBN | Likely pathogenic | -1 | RCV003230977; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982685 | 90982685 | | | | - | | |
NM_002485.5(NBN):c.802A>G (p.Thr268Ala) | 4683 | NBN | Uncertain significance | 2129829282 | RCV001804512|RCV001885270; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982686 | 90982686 | | | 90982686 | - | | |
NM_002485.5(NBN):c.800dup (p.Thr268fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554563955 | RCV000657440|RCV001800841; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982687 | 90982688 | | | 8:g.90982687_90982688insC | - | CN517202 not provided; | |
NM_002485.5(NBN):c.765_801del (p.Asn256fs) | 4683 | NBN | Pathogenic | 2129829309 | RCV001385555; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982687 | 90982723 | | | 90982686 | - | | |
NM_002485.5(NBN):c.800G>A (p.Gly267Glu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 747837246 | RCV001027059|RCV001066171; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982688 | 90982688 | | | 8:g.90982688C>T | - | | |
NM_002485.5(NBN):c.798G>A (p.Pro266=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 368786672 | RCV000418518|RCV000459383|RCV000566951|RCV001357322|RCV002473004; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:C3661900 | 8 | 90982690 | 90982690 | | | 8:g.90982690C>T | ClinGen:CA4802884 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.798G>T (p.Pro266=) | 4683 | NBN | Likely benign | 368786672 | RCV001428104|RCV003298727; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982690 | 90982690 | | | 90982690 | - | | |
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) | 4683 | NBN | Benign/Likely benign | 769420 | RCV000121625|RCV000129165|RCV000425619|RCV001082237|RCV002225386|RCV002498573|RCV003315763; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|MONDO:MONDO:0009623,MedGen:C03987 | 8 | 90982691 | 90982691 | | | 8:g.90982691G>A | ClinGen:CA161002,UniProtKB:O60934#VAR_025801 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.796C>G (p.Pro266Ala) | 4683 | NBN | Uncertain significance | 762956906 | RCV000581122|RCV001800799; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982692 | 90982692 | | | 8:g.90982692G>C | ClinGen:CA4802885 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.796C>T (p.Pro266Ser) | 4683 | NBN | Uncertain significance | 762956906 | RCV000805768; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982692 | 90982692 | | | NC_000008.10:g.90982692G>A | - | | |
NM_002485.5(NBN):c.794C>T (p.Ala265Val) | 4683 | NBN | Uncertain significance | 61612852 | RCV000204340; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982694 | 90982694 | | | 8:g.90982694G>A | ClinGen:CA348590 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.793G>A (p.Ala265Thr) | 4683 | NBN | Uncertain significance | 876658382 | RCV000564477|RCV001064128; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982695 | 90982695 | | | NC_000008.10:g.90982695C>T | ClinGen:CA371658624 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.790T>C (p.Leu264=) | 4683 | NBN | Likely benign | 2129829667 | RCV001438933|RCV002420990; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982698 | 90982698 | | | 90982698 | - | | |
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) | 4683 | NBN | Conflicting interpretations of pathogenicity | 147626427 | RCV000115806|RCV000199794|RCV000212737|RCV000656926; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900 | 8 | 90982700 | 90982700 | | | 8:g.90982700A>G | ClinGen:CA287950 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.787T>A (p.Phe263Ile) | 4683 | NBN | Uncertain significance | 1554563966 | RCV000571687|RCV000688165; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982701 | 90982701 | | | 8:g.90982701A>T | ClinGen:CA371658648 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.786C>A (p.Phe262Leu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 372159380 | RCV000165014|RCV000214639|RCV000473725|RCV001264536|RCV003462161; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90982702 | 90982702 | | | 8:g.90982702G>T | ClinGen:CA192297 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.786C>G (p.Phe262Leu) | 4683 | NBN | Uncertain significance | 372159380 | RCV000775829|RCV001302594; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982702 | 90982702 | | | NC_000008.10:g.90982702G>C | - | | |
NM_002485.5(NBN):c.785_786delinsAA (p.Phe262Ter) | 4683 | NBN | Pathogenic | 2129829803 | RCV001956499; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982702 | 90982703 | | | 90982702 | - | | |
NM_002485.5(NBN):c.783T>G (p.Asn261Lys) | 4683 | NBN | Uncertain significance | 375336614 | RCV000216808|RCV000532301|RCV000565009; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982705 | 90982705 | | | 8:g.90982705A>C | ClinGen:CA4802886 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.783T>C (p.Asn261=) | 4683 | NBN | Likely benign | 375336614 | RCV001441538; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982705 | 90982705 | | | 90982705 | - | | |
NM_002485.5(NBN):c.782A>T (p.Asn261Ile) | 4683 | NBN | Uncertain significance | 1811461476 | RCV001061819|RCV002411577|RCV002509604; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90982706 | 90982706 | | | 8:g.90982706T>A | - | | |
NM_002485.5(NBN):c.781A>G (p.Asn261Asp) | 4683 | NBN | Uncertain significance | -1 | RCV003002994; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982707 | 90982707 | | | NC_000008.10:g.90982707T>C | - | | |
NM_002485.5(NBN):c.779A>C (p.His260Pro) | 4683 | NBN | Uncertain significance | 1328090653 | RCV000772586|RCV001055654; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982709 | 90982709 | | | NC_000008.10:g.90982709T>G | - | | |
NM_002485.5(NBN):c.778C>A (p.His260Asn) | 4683 | NBN | Uncertain significance | 767013459 | RCV001319510; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982710 | 90982710 | | | 90982710 | - | | |
NM_002485.5(NBN):c.777A>G (p.Glu259=) | 4683 | NBN | Likely benign | 876660469 | RCV000220156|RCV000874990; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982711 | 90982711 | | | 8:g.90982711T>C | ClinGen:CA10578793 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.769GAA[2] (p.Glu259del) | 4683 | NBN | Uncertain significance | 2129830023 | RCV001956650; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982711 | 90982713 | | | 90982710 | - | | |
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) | 4683 | NBN | Uncertain significance | 201559159 | RCV000160783|RCV000212736|RCV000204371|RCV000764784|RCV000781645|RCV003407596|RCV003467261; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90982713 | 90982713 | | | NC_000008.10:g.90982713C>T | ClinGen:CA299602 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.775G>C (p.Glu259Gln) | 4683 | NBN | Uncertain significance | 201559159 | RCV001914857; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982713 | 90982713 | | | 90982713 | - | | |
NM_002485.5(NBN):c.774A>G (p.Glu258=) | 4683 | NBN | Likely benign | 1586086940 | RCV000944449|RCV001181605; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982714 | 90982714 | | | 8:g.90982714T>C | - | | |
NM_002485.5(NBN):c.773A>G (p.Glu258Gly) | 4683 | NBN | Uncertain significance | 786203380 | RCV000166661|RCV000481585|RCV000636759; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982715 | 90982715 | | | 8:g.90982715T>C | ClinGen:CA196412 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.772G>C (p.Glu258Gln) | 4683 | NBN | Uncertain significance | 922057169 | RCV000475482|RCV000568106|RCV001174792|RCV003470492; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90982716 | 90982716 | | | NC_000008.10:g.90982716C>G | ClinGen:CA16612546 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.772G>A (p.Glu258Lys) | 4683 | NBN | Uncertain significance | 922057169 | RCV001990501; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982716 | 90982716 | | | 90982716 | - | | |
NM_002485.5(NBN):c.770A>T (p.Glu257Val) | 4683 | NBN | Uncertain significance | 2129830212 | RCV001881240; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982718 | 90982718 | | | 90982718 | - | | |
NM_002485.5(NBN):c.769G>A (p.Glu257Lys) | 4683 | NBN | Uncertain significance | 878854516 | RCV000227599; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982719 | 90982719 | | | 8:g.90982719C>T | ClinGen:CA10582602 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.769G>T (p.Glu257Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | -1 | RCV002306733|RCV003308128; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982719 | 90982719 | | | 90982719 | - | | |
NM_002485.5(NBN):c.767A>G (p.Asn256Ser) | 4683 | NBN | Uncertain significance | 1554563994 | RCV000555956|RCV000580984; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982721 | 90982721 | | | NC_000008.10:g.90982721T>C | ClinGen:CA371658719 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.765G>C (p.Glu255Asp) | 4683 | NBN | Uncertain significance | 2129830286 | RCV001751784|RCV001801004; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982723 | 90982723 | | | 90982723 | - | | |
NM_002485.5(NBN):c.765G>A (p.Glu255=) | 4683 | NBN | Likely benign | -1 | RCV002867820; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982723 | 90982723 | | | | - | | |
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) | 4683 | NBN | Conflicting interpretations of pathogenicity | 61754967 | RCV000115805|RCV000121624|RCV000168183|RCV000656925; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90982730 | 90982730 | | | 8:g.90982730G>A | ClinGen:CA160999 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.757A>G (p.Thr253Ala) | 4683 | NBN | Uncertain significance | 765602971 | RCV000636757|RCV002388044; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982731 | 90982731 | | | NC_000008.10:g.90982731T>C | ClinGen:CA4802889 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.754A>G (p.Ile252Val) | 4683 | NBN | Uncertain significance | 587782746 | RCV000132252|RCV001339147; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982734 | 90982734 | | | 8:g.90982734T>C | ClinGen:CA169496 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.753G>C (p.Leu251Phe) | 4683 | NBN | Uncertain significance | 2129830525 | RCV002016130; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982735 | 90982735 | | | 90982735 | - | | |
NM_002485.5(NBN):c.752T>C (p.Leu251Ser) | 4683 | NBN | Uncertain significance | 2129830556 | RCV002018172; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982736 | 90982736 | | | 90982736 | - | | |
NM_002485.5(NBN):c.751T>C (p.Leu251=) | 4683 | NBN | Likely benign | 1811463703 | RCV001189803|RCV002069086; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982737 | 90982737 | | | 8:g.90982737A>G | - | | |
NM_002485.5(NBN):c.750G>T (p.Arg250Ser) | 4683 | NBN | Uncertain significance | 758852942 | RCV000483869|RCV000701954|RCV000775389; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982738 | 90982738 | | | 8:g.90982738C>A | ClinGen:CA4802890 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.750G>A (p.Arg250=) | 4683 | NBN | Likely benign | 758852942 | RCV000567296|RCV001584387|RCV001439131|RCV002225670; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145 | 8 | 90982738 | 90982738 | | | 8:g.90982738C>T | ClinGen:CA461830883 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.747T>A (p.Ala249=) | 4683 | NBN | Likely benign | 780134747 | RCV001397936|RCV003159792; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982741 | 90982741 | | | NC_000008.10:g.90982741A>T | ClinGen:CA461830887 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.744A>G (p.Glu248=) | 4683 | NBN | Likely benign | 1554564012 | RCV000574525|RCV001492516; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982744 | 90982744 | | | 8:g.90982744T>C | ClinGen:CA461830890 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 864309670 | RCV000007364|RCV000657237|RCV001525344; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982745 | 90982746 | | | 8:g.90982745_90982746insCC | ClinGen:CA278582,OMIM:602667.0010 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.742G>T (p.Glu248Ter) | 4683 | NBN | Pathogenic | 1811464271 | RCV001940815; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982746 | 90982746 | | | 90982746 | - | | |
NM_002485.5(NBN):c.741G>A (p.Gly247=) | 4683 | NBN | Likely benign | 747021126 | RCV000444442|RCV000580479|RCV001398642; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982747 | 90982747 | | | 8:g.90982747C>T | ClinGen:CA4802892 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.738T>C (p.Gly246=) | 4683 | NBN | Likely benign | 2129830935 | RCV001465225|RCV002384744; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982750 | 90982750 | | | 90982750 | - | | |
NM_002485.5(NBN):c.737G>A (p.Gly246Asp) | 4683 | NBN | Uncertain significance | 1554564023 | RCV000566197|RCV001056854; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982751 | 90982751 | | | NC_000008.10:g.90982751C>T | ClinGen:CA371658825 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.737del (p.Gly246fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1811464751 | RCV001269127; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982751 | 90982751 | | | 8:g.90982751_90982751del | - | | |
NM_002485.5(NBN):c.736G>T (p.Gly246Cys) | 4683 | NBN | Uncertain significance | -1 | RCV003030313; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982752 | 90982752 | | | NC_000008.10:g.90982752C>A | - | | |
NM_002485.5(NBN):c.731T>C (p.Phe244Ser) | 4683 | NBN | Uncertain significance | 1586087079 | RCV000810698; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982757 | 90982757 | | | 8:g.90982757A>G | - | | |
NM_002485.5(NBN):c.729C>G (p.Val243=) | 4683 | NBN | Likely benign | -1 | RCV003059232; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982759 | 90982759 | | | | - | | |
NM_002485.5(NBN):c.727G>C (p.Val243Leu) | 4683 | NBN | Uncertain significance | 786203253 | RCV000530856|RCV000571357|RCV002506321; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967 | 8 | 90982761 | 90982761 | | | NC_000008.10:g.90982761C>G | ClinGen:CA371658850 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.724G>A (p.Val242Ile) | 4683 | NBN | Uncertain significance | 1434146100 | RCV001026199|RCV001207637; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982764 | 90982764 | | | 8:g.90982764C>T | - | | |
NM_002485.5(NBN):c.723A>C (p.Ala241=) | 4683 | NBN | Likely benign | 1554564031 | RCV001443647; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982765 | 90982765 | | | 8:g.90982765T>G | - | | |
NM_002485.5(NBN):c.721_722insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGNNNNNNN | 4683 | NBN | Pathogenic | -1 | RCV002811218; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982766 | 90982767 | | | NC_000008.10:g.90982782_90982783insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACTCAATTTCTT | - | | |
NM_002485.5(NBN):c.722C>T (p.Ala241Val) | 4683 | NBN | Uncertain significance | -1 | RCV003030157; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982766 | 90982766 | | | NC_000008.10:g.90982766G>A | - | | |
NM_002485.5(NBN):c.721G>A (p.Ala241Thr) | 4683 | NBN | Uncertain significance | 587781333 | RCV000129086|RCV000467707|RCV000480756; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90982767 | 90982767 | | | 8:g.90982767C>T | ClinGen:CA163785 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.721G>T (p.Ala241Ser) | 4683 | NBN | Uncertain significance | 587781333 | RCV001066743; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982767 | 90982767 | | | 8:g.90982767C>A | - | | |
NM_002485.5(NBN):c.721G>C (p.Ala241Pro) | 4683 | NBN | Uncertain significance | 587781333 | RCV001569807|RCV002570773|RCV003161111; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982767 | 90982767 | | | 90982767 | - | | |
NM_002485.5(NBN):c.720C>T (p.Ser240=) | 4683 | NBN | Likely benign | 781323381 | RCV000163086|RCV000200390|RCV000445191|RCV001080045; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982768 | 90982768 | | | 8:g.90982768G>A | ClinGen:CA187412 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.719C>T (p.Ser240Phe) | 4683 | NBN | Uncertain significance | 1554564033 | RCV001298778|RCV002375350; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982769 | 90982769 | | | 90982769 | - | | |
NM_002485.5(NBN):c.715A>C (p.Ser239Arg) | 4683 | NBN | Uncertain significance | 587781868 | RCV000130185|RCV000480469|RCV000636708; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982773 | 90982773 | | | 8:g.90982773T>G | ClinGen:CA165897 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.715A>G (p.Ser239Gly) | 4683 | NBN | Uncertain significance | 587781868 | RCV001244645; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982773 | 90982773 | | | 8:g.90982773T>C | - | | |
NM_002485.5(NBN):c.714G>T (p.Leu238Phe) | 4683 | NBN | Uncertain significance | 1811466265 | RCV001306319; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982774 | 90982774 | | | 90982774 | - | | |
NM_002485.5(NBN):c.713T>C (p.Leu238Ser) | 4683 | NBN | Uncertain significance | 1358736677 | RCV001890225|RCV002361147; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982775 | 90982775 | | | 90982775 | - | | |
NM_002485.5(NBN):c.712T>C (p.Leu238=) | 4683 | NBN | Likely benign | 748400884 | RCV000431926|RCV001405226; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982776 | 90982776 | | | 8:g.90982776A>G | ClinGen:CA4802893 | CN169374 not specified; | |
NM_002485.5(NBN):c.710A>G (p.Lys237Arg) | 4683 | NBN | Uncertain significance | 2129831599 | RCV001983303; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982778 | 90982778 | | | 90982778 | - | | |
NM_002485.5(NBN):c.708G>T (p.Lys236Asn) | 4683 | NBN | Uncertain significance | 1811466776 | RCV001325281|RCV002366200; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90982780 | 90982780 | | | 90982780 | - | | |
NM_002485.5(NBN):c.707A>G (p.Lys236Arg) | 4683 | NBN | Uncertain significance | 1811466882 | RCV001213262; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982781 | 90982781 | | | 8:g.90982781T>C | - | | |
NM_002485.5(NBN):c.706A>G (p.Lys236Glu) | 4683 | NBN | Uncertain significance | 1060503482 | RCV000468446|RCV000569502|RCV001575608; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90982782 | 90982782 | | | NC_000008.10:g.90982782T>C | ClinGen:CA16612547 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.705T>A (p.His235Gln) | 4683 | NBN | Uncertain significance | 1586087184 | RCV001025982|RCV002551946; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982783 | 90982783 | | | 8:g.90982783A>T | - | | |
NM_002485.5(NBN):c.705T>G (p.His235Gln) | 4683 | NBN | Uncertain significance | -1 | RCV003052563; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982783 | 90982783 | | | NC_000008.10:g.90982783A>C | - | | |
NM_002485.5(NBN):c.704A>G (p.His235Arg) | 4683 | NBN | Uncertain significance | 769519885 | RCV000580946|RCV001222101; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982784 | 90982784 | | | NC_000008.10:g.90982784T>C | ClinGen:CA4802894 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.703C>G (p.His235Asp) | 4683 | NBN | Uncertain significance | 1554564044 | RCV000561396|RCV001241645; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982785 | 90982785 | | | 8:g.90982785G>C | ClinGen:CA371658903 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.703C>T (p.His235Tyr) | 4683 | NBN | Uncertain significance | 1554564044 | RCV000565872|RCV001339647|RCV003470832; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90982785 | 90982785 | | | 8:g.90982785G>A | ClinGen:CA371658904 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.703-3dup | 4683 | NBN | Conflicting interpretations of pathogenicity | 1811467593 | RCV001242262|RCV002225810; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145 | 8 | 90982787 | 90982788 | | | 8:g.90982787_90982788insA | - | | |
NM_002485.5(NBN):c.703-3T>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 876659566 | RCV000216120|RCV000615655|RCV000809078; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982788 | 90982788 | | | 8:g.90982788A>G | ClinGen:CA10578794 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.703-4T>C | 4683 | NBN | Likely benign | 2129832051 | RCV001422581; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982789 | 90982789 | | | 90982789 | - | | |
NM_002485.5(NBN):c.703-6T>G | 4683 | NBN | Uncertain significance | 1563560265 | RCV000699893; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982791 | 90982791 | | | 8:g.90982791A>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.703-8A>T | 4683 | NBN | Likely benign | 1563560271 | RCV002067265; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982793 | 90982793 | | | NC_000008.10:g.90982793T>A | - | | |
NM_002485.5(NBN):c.703-9C>T | 4683 | NBN | Likely benign | 1586087235 | RCV001483852; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982794 | 90982794 | | | 8:g.90982794G>A | - | | |
NM_002485.5(NBN):c.703-12T>A | 4683 | NBN | Likely benign | -1 | RCV003033569; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982797 | 90982797 | | | NC_000008.10:g.90982797A>T | - | | |
NM_002485.5(NBN):c.703-13C>A | 4683 | NBN | Likely benign | 2129832119 | RCV002188042; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982798 | 90982798 | | | 90982798 | - | | |
NM_002485.5(NBN):c.703-13C>T | 4683 | NBN | Likely benign | 2129832119 | RCV002089474; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982798 | 90982798 | | | 90982798 | - | | |
NM_002485.5(NBN):c.703-14C>T | 4683 | NBN | Likely benign | 1411178267 | RCV000605399|RCV000679468|RCV002061885; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982799 | 90982799 | | | NC_000008.10:g.90982799G>A | ClinGen:CA583843922 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.703-17T>C | 4683 | NBN | Likely benign | 1057523604 | RCV000422422|RCV002059968; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982802 | 90982802 | | | 8:g.90982802A>G | ClinGen:CA16605517 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.703-18G>A | 4683 | NBN | Benign | 769418 | RCV000243317|RCV000669127|RCV001610629|RCV002225564|RCV003316397; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:H | 8 | 90982803 | 90982803 | | | 8:g.90982803C>T | ClinGen:CA4802895 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.703-20dup | 4683 | NBN | Benign | 1811468528 | RCV003106153; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90982804 | 90982805 | | | 8:g.90982804_90982805insT | - | | |
NM_002485.5(NBN):c.702+16_702+17delinsAA | 4683 | NBN | Likely benign | 2129836999 | RCV002100315; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983384 | 90983385 | | | 90983384 | - | | |
NM_002485.5(NBN):c.702+16G>C | 4683 | NBN | Benign/Likely benign | 2272581 | RCV000219336|RCV002057225; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983385 | 90983385 | | | NC_000008.10:g.90983385C>G | ClinGen:CA4802907 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.702+15A>G | 4683 | NBN | Likely benign | 900872637 | RCV002068241; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983386 | 90983386 | | | 8:g.90983386T>C | - | | |
NM_002485.5(NBN):c.702+13T>C | 4683 | NBN | Likely benign | 781303760 | RCV002187549; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983388 | 90983388 | | | 90983388 | - | | |
NM_002485.5(NBN):c.702+9G>A | 4683 | NBN | Conflicting interpretations of pathogenicity | 748373099 | RCV000506857|RCV000581237|RCV000679467|RCV001085475|RCV001355731; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90983392 | 90983392 | | | NC_000008.10:g.90983392C>T | ClinGen:CA4802910 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.702+8T>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 1563561325 | RCV000781637|RCV001491898; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983393 | 90983393 | | | NC_000008.10:g.90983393A>G | - | | |
NM_002485.5(NBN):c.702+7A>G | 4683 | NBN | Likely benign | 864622602 | RCV000205440; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983394 | 90983394 | | | 8:g.90983394T>C | ClinGen:CA349605 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.702+7A>C | 4683 | NBN | Likely benign | 864622602 | RCV001431685; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983394 | 90983394 | | | 90983394 | - | | |
NM_002485.5(NBN):c.702+4del | 4683 | NBN | Uncertain significance | 1554564199 | RCV000575679|RCV002526788; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983397 | 90983397 | | | NC_000008.10:g.90983398del | ClinGen:CA658657806 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.702+3A>G | 4683 | NBN | Uncertain significance | 1586088320 | RCV001025935|RCV002550923; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983398 | 90983398 | | | 8:g.90983398T>C | - | | |
NM_002485.5(NBN):c.702+2T>C | 4683 | NBN | Likely pathogenic | 1811497703 | RCV001377651|RCV003473905; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90983399 | 90983399 | | | 90983399 | - | | |
NM_002485.5(NBN):c.702+2T>A | 4683 | NBN | Likely pathogenic | 1811497703 | RCV001376929; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983399 | 90983399 | | | 90983399 | - | | |
NM_002485.5(NBN):c.702+2del | 4683 | NBN | Likely pathogenic | -1 | RCV002858394; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983399 | 90983399 | | | NC_000008.10:g.90983399del | - | | |
NM_002485.5(NBN):c.702+1G>A | 4683 | NBN | Likely pathogenic | 1057517104 | RCV000411476|RCV002365446|RCV003168594; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 | 8 | 90983400 | 90983400 | | | NC_000008.10:g.90983400C>T | ClinGen:CA16041210 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.702+1G>T | 4683 | NBN | Likely pathogenic | 1057517104 | RCV000481637|RCV001203346; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983400 | 90983400 | | | 8:g.90983400C>A | ClinGen:CA16618704 | CN517202 not provided; | |
NM_002485.5(NBN):c.702+1G>C | 4683 | NBN | Likely pathogenic | 1057517104 | RCV000542087|RCV002367818; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983400 | 90983400 | | | NC_000008.10:g.90983400C>G | ClinGen:CA371658914 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.702+1del | 4683 | NBN | Likely pathogenic | 1586088347 | RCV000988086; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983400 | 90983400 | | | 8:g.90983400_90983400del | - | | |
NM_002485.5(NBN):c.698_701del (p.Lys233fs) | 4683 | NBN | Pathogenic | 587780100 | RCV000115804|RCV000193543|RCV000212735|RCV001354502|RCV002498497|RCV003467062; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotyp | 8 | 90983402 | 90983405 | | | 8:g.90983402_90983405del | ClinGen:CA287949,OMIM:602667.0002 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.701A>G (p.Gln234Arg) | 4683 | NBN | Uncertain significance | 1586088352 | RCV000798336; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983402 | 90983402 | | | 8:g.90983402T>C | - | | |
NM_002485.5(NBN):c.696C>T (p.Ala232=) | 4683 | NBN | Likely benign | 566091759 | RCV000569951|RCV000525092|RCV001712198; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90983407 | 90983407 | | | 8:g.90983407G>A | ClinGen:CA4802911 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.694G>A (p.Ala232Thr) | 4683 | NBN | Uncertain significance | 878854515 | RCV000231298|RCV002365192; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983409 | 90983409 | | | NC_000008.10:g.90983409C>T | ClinGen:CA10582603 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.693T>C (p.Asn231=) | 4683 | NBN | Likely benign | 878854514 | RCV000227420|RCV002365191; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983410 | 90983410 | | | NC_000008.10:g.90983410A>G | ClinGen:CA10582604 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.692A>G (p.Asn231Ser) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1309274168 | RCV000773378|RCV000809097|RCV000999052; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90983411 | 90983411 | | | NC_000008.10:g.90983411T>C | - | | |
NM_002485.5(NBN):c.692A>C (p.Asn231Thr) | 4683 | NBN | Uncertain significance | 1309274168 | RCV000807525; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983411 | 90983411 | | | 8:g.90983411T>G | - | | |
NM_002485.5(NBN):c.690G>A (p.Leu230=) | 4683 | NBN | Likely benign | 2129837575 | RCV001448045; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983413 | 90983413 | | | 90983413 | - | | |
NM_002485.5(NBN):c.687T>G (p.Phe229Leu) | 4683 | NBN | Uncertain significance | 876660152 | RCV000216007|RCV001223538; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983416 | 90983416 | | | 8:g.90983416A>C | ClinGen:CA10578795 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.684A>G (p.Ile228Met) | 4683 | NBN | Uncertain significance | 1064793416 | RCV000484512|RCV000798099; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983419 | 90983419 | | | 8:g.90983419T>C | ClinGen:CA16618705 | CN169374 not specified; | |
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) | 4683 | NBN | Uncertain significance | 777460725 | RCV000165931|RCV000198580|RCV000587016|RCV000764785|RCV000855653|RCV003468761; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90983420 | 90983420 | | | 8:g.90983420A>C | ClinGen:CA194560 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.682A>G (p.Ile228Val) | 4683 | NBN | Uncertain significance | 1204337347 | RCV001226963; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983421 | 90983421 | | | 8:g.90983421T>C | ClinGen:CA371658968 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.681del (p.Phe227fs) | 4683 | NBN | not provided | 1057519586 | RCV000417079; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983422 | 90983422 | | | 8:g.90983422_90983422del | ClinGen:CA16044375 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.680T>C (p.Phe227Ser) | 4683 | NBN | Uncertain significance | 749025721 | RCV000478980|RCV000548804; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983423 | 90983423 | | | 8:g.90983423A>G | ClinGen:CA4802912 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.680T>G (p.Phe227Cys) | 4683 | NBN | Uncertain significance | 749025721 | RCV001368374; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983423 | 90983423 | | | 90983423 | - | | |
NM_002485.5(NBN):c.678A>G (p.Thr226=) | 4683 | NBN | Likely benign | 878854513 | RCV000233642|RCV000772342|RCV001088267; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983425 | 90983425 | | | NC_000008.10:g.90983425T>C | ClinGen:CA10582605 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.677C>T (p.Thr226Ile) | 4683 | NBN | Uncertain significance | 1554564219 | RCV000579800|RCV001307945; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983426 | 90983426 | | | 8:g.90983426G>A | ClinGen:CA371658993 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.676del (p.Thr226fs) | 4683 | NBN | Pathogenic | 1563561558 | RCV000704393|RCV001025628; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983427 | 90983427 | | | 8:g.90983427_90983427del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.675A>G (p.Lys225=) | 4683 | NBN | Likely benign | 2129837838 | RCV002174563; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983428 | 90983428 | | | 90983428 | - | | |
NM_002485.5(NBN):c.673A>G (p.Lys225Glu) | 4683 | NBN | Uncertain significance | 2129837868 | RCV001905136|RCV002361116; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983430 | 90983430 | | | 90983430 | - | | |
NM_002485.5(NBN):c.672G>A (p.Gly224=) | 4683 | NBN | Likely benign | 1554564220 | RCV002065102; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983431 | 90983431 | | | NC_000008.10:g.90983431C>T | ClinGen:CA461831027 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) | 4683 | NBN | Uncertain significance | 199845467 | RCV000129875|RCV000222691|RCV000196737|RCV001778750|RCV003407545|RCV003467123; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374||Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:1 | 8 | 90983432 | 90983432 | | | 8:g.90983432C>T | ClinGen:CA165270 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.668A>G (p.Lys223Arg) | 4683 | NBN | Uncertain significance | 530438634 | RCV000561794|RCV001858318; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983435 | 90983435 | | | 8:g.90983435T>C | ClinGen:CA371659032 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.667_668insTTTATATTTTTATTATATAAAATATAATAAAGAAAACATTTATATTTTATAATATAAAAATATTATATTAT | 4683 | NBN | Pathogenic | -1 | RCV002663091; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983435 | 90983436 | | | NC_000008.10:g.90983436TA[3]ATGTTTTCTTTATTATATTTTATATATAATATAATATTTTTATATTATAAAATATAAATGTTTTCTTTATTATATTTTATATAATAAAAATATAAAT[1] | - | | |
NM_002485.5(NBN):c.667A>C (p.Lys223Gln) | 4683 | NBN | Uncertain significance | 1811500671 | RCV001226080; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983436 | 90983436 | | | 8:g.90983436T>G | - | | |
NM_002485.5(NBN):c.667A>G (p.Lys223Glu) | 4683 | NBN | Uncertain significance | -1 | RCV002366995|RCV003103318; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983436 | 90983436 | | | 90983436 | - | | |
NM_002485.5(NBN):c.666C>T (p.Phe222=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 876661098 | RCV000220946|RCV001183517|RCV001273693|RCV002509326; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90983437 | 90983437 | | | 8:g.90983437G>A | ClinGen:CA10577368 | CN169374 not specified; | |
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) | 4683 | NBN | Uncertain significance | 541992192 | RCV000123219|RCV000129030|RCV000212734|RCV002477323|RCV003226205|RCV003467094; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90983439 | 90983439 | | | 8:g.90983439A>G | ClinGen:CA293935 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.663C>T (p.Ile221=) | 4683 | NBN | Likely benign | 372705975 | RCV000164516|RCV000229453|RCV001697157; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90983440 | 90983440 | | | 8:g.90983440G>A | ClinGen:CA191151 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.662T>C (p.Ile221Thr) | 4683 | NBN | Uncertain significance | 1187082186 | RCV001208269|RCV003237948|RCV003343926; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983441 | 90983441 | | | NC_000008.10:g.90983441A>G | ClinGen:CA371659059 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.657_661del (p.Lys219fs) | 4683 | NBN | Conflicting interpretations of pathogenicity | 587776650 | RCV000007353|RCV000007354|RCV000133576|RCV000212733|RCV000415248|RCV001270991|RCV001357671|RCV001391203|RCV001535498|RCV001574072|RCV002280859|RCV003224855|RCV003389666|RCV003460432; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0000252,Human Phenotyp | 8 | 90983442 | 90983446 | | | NC_000008.10:g.90983445_90983449del | ClinGen:CA254009,OMIM:602667.0001 | C2676676 604370 Breast-ovarian cancer, familial 1; | |
NM_002485.5(NBN):c.661A>G (p.Ile221Val) | 4683 | NBN | Uncertain significance | 2129838150 | RCV001985852; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983442 | 90983442 | | | 90983442 | - | | |
NM_002485.5(NBN):c.660A>G (p.Gln220=) | 4683 | NBN | Likely benign | 876658674 | RCV000214158|RCV000636800|RCV001668386; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90983443 | 90983443 | | | 8:g.90983443T>C | ClinGen:CA10578796 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.658_660del (p.Gln220del) | 4683 | NBN | Uncertain significance | 1563561699 | RCV000701215; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983443 | 90983445 | | | 8:g.90983443_90983445del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.658C>G (p.Gln220Glu) | 4683 | NBN | Uncertain significance | 876659811 | RCV000221411|RCV000477515|RCV001575753; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90983445 | 90983445 | | | 8:g.90983445G>C | ClinGen:CA10578797 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.657A>G (p.Lys219=) | 4683 | NBN | Likely benign | 745768664 | RCV000931447|RCV001025429; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983446 | 90983446 | | | 8:g.90983446T>C | - | | |
NM_002485.5(NBN):c.656A>G (p.Lys219Arg) | 4683 | NBN | Uncertain significance | 376951288 | RCV000636770|RCV001192339; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983447 | 90983447 | | | NC_000008.10:g.90983447T>C | ClinGen:CA4802914 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.655A>C (p.Lys219Gln) | 4683 | NBN | Uncertain significance | 730881846 | RCV000160782|RCV001045190|RCV002362851|RCV003467260; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90983448 | 90983448 | | | NC_000008.10:g.90983448T>G | ClinGen:CA299599 | CN517202 not provided; | |
NM_002485.5(NBN):c.654A>G (p.Arg218=) | 4683 | NBN | Likely benign | -1 | RCV003056405; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983449 | 90983449 | | | | - | | |
NM_002485.5(NBN):c.653G>T (p.Arg218Ile) | 4683 | NBN | Uncertain significance | 786202250 | RCV000164968|RCV000693014; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983450 | 90983450 | | | 8:g.90983450C>A | ClinGen:CA192192 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.649G>C (p.Glu217Gln) | 4683 | NBN | Uncertain significance | 760275251 | RCV000482311|RCV001324222|RCV002356787; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983454 | 90983454 | | | 8:g.90983454C>G | ClinGen:CA4802915 | CN169374 not specified; | |
NM_002485.5(NBN):c.648G>A (p.Gln216=) | 4683 | NBN | Likely benign | 786201883 | RCV000164392|RCV001471839; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983455 | 90983455 | | | 8:g.90983455C>T | ClinGen:CA190843 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.646C>A (p.Gln216Lys) | 4683 | NBN | Uncertain significance | 769416 | RCV000688542|RCV001025298; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983457 | 90983457 | | | NC_000008.10:g.90983457G>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.645G>T (p.Arg215=) | 4683 | NBN | Likely benign | 2129838464 | RCV001416896; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983458 | 90983458 | | | 90983458 | - | | |
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) | 4683 | NBN | Uncertain significance | 61753718 | RCV000130586|RCV000461583|RCV000587953|RCV001818316|RCV003467148; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90983459 | 90983459 | | | 8:g.90983459C>T | ClinGen:CA166707 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) | 4683 | NBN | Conflicting interpretations of pathogenicity | 34767364 | RCV000007363|RCV000115802|RCV000121621|RCV000487932; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900 | 8 | 90983460 | 90983460 | | | 8:g.90983460G>A | ClinGen:CA160990,UniProtKB:O60934#VAR_025799,OMIM:602667.0009 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.642A>G (p.Gly214=) | 4683 | NBN | Likely benign | 763363235 | RCV000636789|RCV002360545; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983461 | 90983461 | | | 8:g.90983461T>C | ClinGen:CA4802916 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.640G>C (p.Gly214Arg) | 4683 | NBN | Uncertain significance | 1554564269 | RCV000562538|RCV001034793|RCV002222555; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90983463 | 90983463 | | | 8:g.90983463C>G | ClinGen:CA371659161 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.639A>C (p.Ser213=) | 4683 | NBN | Likely benign | 1335414652 | RCV002131562; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983464 | 90983464 | | | 90983464 | - | | |
NM_002485.5(NBN):c.636G>C (p.Leu212=) | 4683 | NBN | Likely benign | 1811504066 | RCV002068504; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983467 | 90983467 | | | 8:g.90983467C>G | - | | |
NM_002485.5(NBN):c.635T>G (p.Leu212Arg) | 4683 | NBN | Uncertain significance | 2129838690 | RCV001954617; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983468 | 90983468 | | | 90983468 | - | | |
NM_002485.5(NBN):c.635T>C (p.Leu212Pro) | 4683 | NBN | Uncertain significance | -1 | RCV003050301; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983468 | 90983468 | | | NC_000008.10:g.90983468A>G | - | | |
NM_002485.5(NBN):c.634C>A (p.Leu212Met) | 4683 | NBN | Uncertain significance | 1563561889 | RCV001296163|RCV002366118; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983469 | 90983469 | | | 90983469 | - | | |
NM_002485.5(NBN):c.633T>A (p.Asp211Glu) | 4683 | NBN | Uncertain significance | 377700348 | RCV000128984|RCV000199629|RCV000486252|RCV003315230|RCV003474742; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:C5669877|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90983470 | 90983470 | | | 8:g.90983470A>T | ClinGen:CA163608 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.633T>C (p.Asp211=) | 4683 | NBN | Likely benign | 377700348 | RCV001475829; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983470 | 90983470 | | | 90983470 | - | | |
NM_002485.5(NBN):c.631G>C (p.Asp211His) | 4683 | NBN | Uncertain significance | 752104183 | RCV001025136|RCV001862313; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983472 | 90983472 | | | 8:g.90983472C>G | - | | |
NM_002485.5(NBN):c.630T>A (p.Val210=) | 4683 | NBN | Likely benign | 2129838835 | RCV002084823; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983473 | 90983473 | | | 90983473 | - | | |
NM_002485.5(NBN):c.628G>T (p.Val210Phe) | 4683 | NBN | Conflicting interpretations of pathogenicity | 61754796 | RCV000114880|RCV000121622|RCV000115801|RCV000168062|RCV000515300|RCV001358247; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:000480 | 8 | 90983475 | 90983475 | | | 8:g.90983475C>A | UniProtKB:O60934#VAR_025798,ClinGen:CA160993 | C0023449 613065 Acute lymphoid leukemia; | |
NM_002485.5(NBN):c.628G>C (p.Val210Leu) | 4683 | NBN | Uncertain significance | 61754796 | RCV001025091|RCV002551916; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983475 | 90983475 | | | 8:g.90983475C>G | - | | |
NM_002485.5(NBN):c.628G>A (p.Val210Ile) | 4683 | NBN | Uncertain significance | 61754796 | RCV001876175; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983475 | 90983475 | | | 8:g.90983475C>T | - | | |
NM_002485.5(NBN):c.627T>C (p.Asn209=) | 4683 | NBN | Likely benign | 767520591 | RCV000570988|RCV002060476; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983476 | 90983476 | | | 8:g.90983476A>G | ClinGen:CA4802918 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.626del (p.Asn209fs) | 4683 | NBN | Pathogenic | 2129838943 | RCV001958729; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983477 | 90983477 | | | 90983476 | - | | |
NM_002485.5(NBN):c.622A>G (p.Lys208Glu) | 4683 | NBN | Uncertain significance | -1 | RCV002953576|RCV003170691; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983481 | 90983481 | | | NC_000008.10:g.90983481T>C | - | | |
NM_002485.5(NBN):c.621T>C (p.Ser207=) | 4683 | NBN | Likely benign | 876658177 | RCV000219310|RCV000587744|RCV000636803; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983482 | 90983482 | | | 8:g.90983482A>G | ClinGen:CA10578798 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.620G>T (p.Ser207Ile) | 4683 | NBN | Uncertain significance | 587780099 | RCV000115800|RCV000219658|RCV000792329; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983483 | 90983483 | | | 8:g.90983483C>A | ClinGen:CA287946 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.619A>G (p.Ser207Gly) | 4683 | NBN | Uncertain significance | 2129839074 | RCV001966193; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983484 | 90983484 | | | 90983484 | - | | |
NM_002485.5(NBN):c.615T>C (p.Ile205=) | 4683 | NBN | Likely benign | 2129839117 | RCV001492105|RCV003284351; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983488 | 90983488 | | | 90983488 | - | | |
NM_002485.5(NBN):c.614T>C (p.Ile205Thr) | 4683 | NBN | Uncertain significance | 786203215 | RCV000166430|RCV001217810; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983489 | 90983489 | | | 8:g.90983489A>G | ClinGen:CA195851 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.613A>G (p.Ile205Val) | 4683 | NBN | Uncertain significance | 730881845 | RCV000160781|RCV000212732|RCV000470960|RCV003467259; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90983490 | 90983490 | | | NC_000008.10:g.90983490T>C | ClinGen:CA299596 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.611C>G (p.Ser204Cys) | 4683 | NBN | Uncertain significance | 876659478 | RCV000219068|RCV000687695; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983492 | 90983492 | | | 8:g.90983492G>C | ClinGen:CA10578799 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.611C>T (p.Ser204Phe) | 4683 | NBN | Uncertain significance | 876659478 | RCV002049428; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983492 | 90983492 | | | 90983492 | - | | |
NM_002485.5(NBN):c.610T>C (p.Ser204Pro) | 4683 | NBN | Uncertain significance | 2129839225 | RCV001896553; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983493 | 90983493 | | | 90983493 | - | | |
NM_002485.5(NBN):c.609A>G (p.Pro203=) | 4683 | NBN | Likely benign | 778083915 | RCV001454386; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983494 | 90983494 | | | 90983494 | - | | |
NM_002485.5(NBN):c.607C>A (p.Pro203Thr) | 4683 | NBN | Uncertain significance | 1554564291 | RCV000568663|RCV001247962; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983496 | 90983496 | | | 8:g.90983496G>T | ClinGen:CA371659298 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.606A>G (p.Glu202=) | 4683 | NBN | Likely benign | 1554564292 | RCV002201010; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983497 | 90983497 | | | 90983497 | - | | |
NM_002485.5(NBN):c.600TGA[1] (p.Asp201del) | 4683 | NBN | Uncertain significance | 755050499 | RCV001047446; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983498 | 90983500 | | | 8:g.90983498_90983500del | - | | |
NM_002485.5(NBN):c.604G>T (p.Glu202Ter) | 4683 | NBN | Pathogenic | 1811506628 | RCV001067860; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983499 | 90983499 | | | 8:g.90983499C>A | - | | |
NM_002485.5(NBN):c.604G>A (p.Glu202Lys) | 4683 | NBN | Uncertain significance | 1811506628 | RCV001238965|RCV002357020; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983499 | 90983499 | | | 8:g.90983499C>T | - | | |
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554564297 | RCV000572469|RCV000700009|RCV001328957|RCV001779012|RCV002526831|RCV003476333; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967 | 8 | 90983500 | 90983512 | | | NC_000008.10:g.90983500_90983512delinsCAA | ClinGen:CA658657807 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.603T>G (p.Asp201Glu) | 4683 | NBN | Uncertain significance | 2129839451 | RCV001871092; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983500 | 90983500 | | | 90983500 | - | | |
NM_002485.5(NBN):c.602A>T (p.Asp201Val) | 4683 | NBN | Uncertain significance | 587780098 | RCV000115799|RCV000561072|RCV000693128; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983501 | 90983501 | | | 8:g.90983501T>A | ClinGen:CA287943 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.602A>G (p.Asp201Gly) | 4683 | NBN | Uncertain significance | 587780098 | RCV000562999|RCV000636721|RCV001568159|RCV003470829; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90983501 | 90983501 | | | NC_000008.10:g.90983501T>C | ClinGen:CA4802922 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.601G>C (p.Asp201His) | 4683 | NBN | Uncertain significance | 757186245 | RCV001202437|RCV002356873; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983502 | 90983502 | | | 8:g.90983502C>G | - | | |
NM_002485.5(NBN):c.601G>A (p.Asp201Asn) | 4683 | NBN | Uncertain significance | 757186245 | RCV001338503|RCV001773674|RCV003346487; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983502 | 90983502 | | | 90983502 | - | | |
NM_002485.5(NBN):c.599T>C (p.Leu200Pro) | 4683 | NBN | Uncertain significance | -1 | RCV002301117; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983504 | 90983504 | | | 90983504 | - | | |
NM_002485.5(NBN):c.598C>T (p.Leu200Phe) | 4683 | NBN | Uncertain significance | 2129839627 | RCV001373336|RCV001820077; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90983505 | 90983505 | | | 90983505 | - | | |
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) | 4683 | NBN | Conflicting interpretations of pathogenicity | 730881844 | RCV000160780|RCV000205060|RCV000726896|RCV002229765|RCV003474833; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90983507 | 90983507 | | | NC_000008.10:g.90983507G>C | ClinGen:CA299593 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) | 4683 | NBN | Conflicting interpretations of pathogenicity | 587780097 | RCV000115798|RCV000235189|RCV000461206|RCV000515203; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90983508 | 90983508 | | | 8:g.90983508G>A | ClinGen:CA287940 | C0023449 613065 Acute lymphoid leukemia; | |
NM_002485.5(NBN):c.593C>T (p.Pro198Leu) | 4683 | NBN | Uncertain significance | 951997505 | RCV000528152|RCV000565625|RCV000759888|RCV003470741; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90983510 | 90983510 | | | NC_000008.10:g.90983510G>A | ClinGen:CA181276835 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.593C>G (p.Pro198Arg) | 4683 | NBN | Uncertain significance | 951997505 | RCV001206381|RCV003433082; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90983510 | 90983510 | | | 8:g.90983510G>C | - | | |
NM_002485.5(NBN):c.592C>T (p.Pro198Ser) | 4683 | NBN | Uncertain significance | 1554564306 | RCV000562640|RCV000636772; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983511 | 90983511 | | | 8:g.90983511G>A | ClinGen:CA371659324 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.590dup (p.Tyr197Ter) | 4683 | NBN | Likely pathogenic | 1554564309 | RCV000666402; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983512 | 90983513 | | | 8:g.90983512_90983513insT | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.590A>G (p.Tyr197Cys) | 4683 | NBN | Uncertain significance | 1563562194 | RCV000690999|RCV001191345; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983513 | 90983513 | | | NC_000008.10:g.90983513T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.589dup (p.Tyr197fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1586088924 | RCV001024655|RCV001391000|RCV003467683|RCV003329365; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88|MedGen:C3661900 | 8 | 90983513 | 90983514 | | | 8:g.90983513_90983514insA | - | | |
NM_002485.5(NBN):c.590A>C (p.Tyr197Ser) | 4683 | NBN | Uncertain significance | 1563562194 | RCV001067335|RCV002355090; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983513 | 90983513 | | | 8:g.90983513T>G | - | | |
NM_002485.5(NBN):c.589del (p.Tyr197fs) | 4683 | NBN | Likely pathogenic | 1586088924 | RCV001581906|RCV001824177; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983514 | 90983514 | | | 90983513 | - | | |
NM_002485.5(NBN):c.588T>C (p.Phe196=) | 4683 | NBN | Benign/Likely benign | 745821999 | RCV000166036|RCV000475863|RCV001711445; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90983515 | 90983515 | | | 8:g.90983515A>G | ClinGen:CA194828 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.587T>A (p.Phe196Tyr) | 4683 | NBN | Uncertain significance | 1811508521 | RCV001322493|RCV003166874; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983516 | 90983516 | | | 90983516 | - | | |
NM_002485.5(NBN):c.585-1_585delinsC | 4683 | NBN | Likely pathogenic | 786203662 | RCV000167070|RCV001240142|RCV001778765|RCV003474887; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90983518 | 90983519 | | | 8:g.90983519_90983519del | ClinGen:CA197421 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.585-1G>A | 4683 | NBN | Likely pathogenic | 1394578008 | RCV000666840|RCV001592845; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN517202 | 8 | 90983519 | 90983519 | | | 8:g.90983519C>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.585-2A>G | 4683 | NBN | Likely pathogenic | 772005832 | RCV000700477|RCV002352187|RCV003465613; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90983520 | 90983520 | | | 8:g.90983520T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.585-3C>T | 4683 | NBN | Uncertain significance | 779430868 | RCV000206379|RCV001024602|RCV003133175; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90983521 | 90983521 | | | 8:g.90983521G>A | ClinGen:CA350419 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.585-3C>A | 4683 | NBN | Uncertain significance | 779430868 | RCV000812227; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983521 | 90983521 | | | 8:g.90983521G>T | - | | |
NM_002485.5(NBN):c.585-3del | 4683 | NBN | Uncertain significance | 2129839997 | RCV001899345; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983521 | 90983521 | | | 90983520 | - | | |
NM_002485.5(NBN):c.585-5T>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 1586088968 | RCV001505889|RCV001525104; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90983523 | 90983523 | | | 90983523 | - | | |
NM_002485.5(NBN):c.585-7T>C | 4683 | NBN | Likely benign | -1 | RCV002884997; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983525 | 90983525 | | | NC_000008.10:g.90983525A>G | - | | |
NM_002485.5(NBN):c.585-13A>G | 4683 | NBN | Likely benign | 980972703 | RCV002060553; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983531 | 90983531 | | | 8:g.90983531T>C | ClinGen:CA181276865 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.585-15T>C | 4683 | NBN | Likely benign | 746465355 | RCV000440102|RCV002063574; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983533 | 90983533 | | | 8:g.90983533A>G | ClinGen:CA4802925 | CN169374 not specified; | |
NM_002485.5(NBN):c.585-16T>A | 4683 | NBN | Likely benign | 2129840149 | RCV002093897; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983534 | 90983534 | | | 90983534 | - | | |
NM_002485.5(NBN):c.585-18C>T | 4683 | NBN | Likely benign | 1811509460 | RCV002067871; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983536 | 90983536 | | | 8:g.90983536G>A | - | | |
NM_002485.5(NBN):c.585-20T>C | 4683 | NBN | Likely benign | 1162395270 | RCV002107243; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90983538 | 90983538 | | | 90983538 | - | | |
NM_002485.5(NBN):c.584+20T>C | 4683 | NBN | Likely benign | 2129887517 | RCV002153629; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990428 | 90990428 | | | 90990428 | - | | |
NM_002485.5(NBN):c.584+19A>G | 4683 | NBN | Likely benign | 1187374555 | RCV001859157; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990429 | 90990429 | | | 8:g.90990429T>C | - | | |
NM_002485.5(NBN):c.584+19A>T | 4683 | NBN | Likely benign | 1187374555 | RCV002097511; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990429 | 90990429 | | | 90990429 | - | | |
NM_002485.5(NBN):c.584+15T>G | 4683 | NBN | Likely benign | -1 | RCV003020988; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990433 | 90990433 | | | NC_000008.10:g.90990433A>C | - | | |
NC_000008.11:g.(?_89978210)_(89980903_?)del | 4683 | NBN | Likely pathogenic | -1 | RCV000708287; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990438 | 90993131 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.11:g.(?_89978210)_(89984561_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV001031546; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990438 | 90996789 | | | -1 | - | | |
NC_000008.11:g.(?_89978210)_(89984571_?)del | 4683 | NBN | Pathogenic | -1 | RCV001033423; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990438 | 90996799 | | | -1 | - | | |
NC_000008.10:g.(?_90990438)_(90990561_?)del | 4683 | NBN | Pathogenic | -1 | RCV001385270; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990438 | 90990561 | | | -1 | - | | |
NM_002485.5(NBN):c.584+10G>A | 4683 | NBN | Likely benign | 780093985 | RCV001489076; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990438 | 90990438 | | | 90990438 | - | | |
NM_002485.5(NBN):c.584+9T>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 746913991 | RCV000459632|RCV000443854|RCV001083819; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990439 | 90990439 | | | 8:g.90990439A>G | ClinGen:CA4802943 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.584+9T>A | 4683 | NBN | Likely benign | 746913991 | RCV000601206|RCV001489403; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990439 | 90990439 | | | 8:g.90990439A>T | ClinGen:CA658797118 | CN169374 not specified; | |
NM_002485.5(NBN):c.584+7_584+9del | 4683 | NBN | Likely benign | 1586101102 | RCV000930708; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990439 | 90990441 | | | 8:g.90990439_90990441del | - | | |
NM_002485.5(NBN):c.584+8A>G | 4683 | NBN | Likely benign | 1554566597 | RCV002061884; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990440 | 90990440 | | | NC_000008.10:g.90990440T>C | ClinGen:CA658683516 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.584+7T>A | 4683 | NBN | Likely benign | 1057523869 | RCV000428061|RCV000988087; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990441 | 90990441 | | | 8:g.90990441A>T | ClinGen:CA16605428 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.584+6T>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554566602 | RCV000612983|RCV000698403|RCV001284317; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90990442 | 90990442 | | | 8:g.90990442A>G | ClinGen:CA658797119 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.584+5A>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 1309889719 | RCV000565579|RCV000636761; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990443 | 90990443 | | | 8:g.90990443T>C | ClinGen:CA583375382 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.584+3A>G | 4683 | NBN | Uncertain significance | 587782407 | RCV000131444|RCV000636786|RCV003225031; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90990445 | 90990445 | | | 8:g.90990445T>C | ClinGen:CA168167 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.584+2T>C | 4683 | NBN | Pathogenic/Likely pathogenic | 1586101154 | RCV001004533|RCV001024591|RCV003467575; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90990446 | 90990446 | | | 8:g.90990446A>G | - | | |
NM_002485.5(NBN):c.584+1G>A | 4683 | NBN | Likely pathogenic | 1811862598 | RCV001185847|RCV001862922; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990447 | 90990447 | | | 8:g.90990447C>T | - | | |
NM_002485.5(NBN):c.584G>A (p.Ser195Asn) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1811862674 | RCV001310162|RCV001368080; | N | MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990448 | 90990448 | | | 90990448 | - | | |
NM_002485.5(NBN):c.582A>G (p.Glu194=) | 4683 | NBN | Likely benign | 2129887820 | RCV001506514; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990450 | 90990450 | | | 90990450 | - | | |
NM_002485.5(NBN):c.580G>A (p.Glu194Lys) | 4683 | NBN | Uncertain significance | 1554566610 | RCV000636704|RCV002358788; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990452 | 90990452 | | | 8:g.90990452C>T | ClinGen:CA371660085 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.580G>T (p.Glu194Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554566610 | RCV001380565|RCV002357286|RCV003127859|RCV003469651; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90990452 | 90990452 | | | 90990452 | - | | |
NM_002485.5(NBN):c.578T>C (p.Ile193Thr) | 4683 | NBN | Uncertain significance | 1586101162 | RCV000985879|RCV001024532|RCV001275522; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990454 | 90990454 | | | 8:g.90990454A>G | - | | |
NM_002485.5(NBN):c.576A>G (p.Gln192=) | 4683 | NBN | Likely benign | 2129887922 | RCV002162035; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990456 | 90990456 | | | 90990456 | - | | |
NM_002485.5(NBN):c.572C>T (p.Pro191Leu) | 4683 | NBN | Uncertain significance | 876661071 | RCV000223056|RCV000475053|RCV001024457|RCV003469107; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90990460 | 90990460 | | | NC_000008.10:g.90990460G>A | ClinGen:CA10577369 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.571C>T (p.Pro191Ser) | 4683 | NBN | Uncertain significance | 2129888034 | RCV001979219; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990461 | 90990461 | | | 90990461 | - | | |
NM_002485.5(NBN):c.570T>C (p.Pro190=) | 4683 | NBN | Likely benign | 1811863524 | RCV002068188; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990462 | 90990462 | | | 8:g.90990462A>G | - | | |
NM_002485.5(NBN):c.568C>T (p.Pro190Ser) | 4683 | NBN | Uncertain significance | 1554566620 | RCV001860093; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990464 | 90990464 | | | NC_000008.10:g.90990464G>A | ClinGen:CA371660133 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.568C>G (p.Pro190Ala) | 4683 | NBN | Uncertain significance | 1554566620 | RCV001368257|RCV002350704; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990464 | 90990464 | | | 90990464 | - | | |
NM_002485.5(NBN):c.567G>A (p.Gln189=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1203807404 | RCV001161378; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990465 | 90990465 | | | 8:g.90990465C>T | - | | |
NM_002485.5(NBN):c.565C>T (p.Gln189Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1198614767 | RCV001853931|RCV003465314; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90990467 | 90990467 | | | 8:g.90990467G>A | ClinGen:CA371660147 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.565C>G (p.Gln189Glu) | 4683 | NBN | Uncertain significance | 1198614767 | RCV001024379|RCV001343630; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990467 | 90990467 | | | 8:g.90990467G>C | - | | |
NM_002485.5(NBN):c.565del (p.Gln189fs) | 4683 | NBN | Pathogenic | 1811864250 | RCV001234160; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990467 | 90990467 | | | 8:g.90990467_90990467del | - | | |
NM_002485.5(NBN):c.562A>C (p.Lys188Gln) | 4683 | NBN | Uncertain significance | 1060503476 | RCV000471532|RCV002349979; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990470 | 90990470 | | | NC_000008.10:g.90990470T>G | ClinGen:CA16612370 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.559A>C (p.Lys187Gln) | 4683 | NBN | Uncertain significance | 1554566633 | RCV000547583; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990473 | 90990473 | | | NC_000008.10:g.90990473T>G | ClinGen:CA371660179 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.556T>A (p.Ser186Thr) | 4683 | NBN | Uncertain significance | 1586101246 | RCV001024291|RCV001862284; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990476 | 90990476 | | | 8:g.90990476A>T | - | | |
NM_002485.5(NBN):c.552_556del (p.Glu185fs) | 4683 | NBN | Pathogenic | 2129888420 | RCV001946932; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990476 | 90990480 | | | 90990475 | - | | |
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) | 4683 | NBN | Benign | 1805794 | RCV000121620|RCV000162358|RCV000374656|RCV001705896|RCV002225385|RCV003315762; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:00048 | 8 | 90990479 | 90990479 | | | 8:g.90990479C>G | ClinGen:CA160987,UniProtKB:O60934#VAR_025797 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.551T>C (p.Val184Ala) | 4683 | NBN | Uncertain significance | 1811865315 | RCV001218013; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990481 | 90990481 | | | 8:g.90990481A>G | - | | |
NM_002485.5(NBN):c.550G>A (p.Val184Ile) | 4683 | NBN | Uncertain significance | 1554566641 | RCV000558763|RCV002350224; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990482 | 90990482 | | | 8:g.90990482C>T | ClinGen:CA371660218 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.550G>T (p.Val184Phe) | 4683 | NBN | Uncertain significance | 1554566641 | RCV000636731|RCV001024208; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990482 | 90990482 | | | NC_000008.10:g.90990482C>A | ClinGen:CA371660215 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.549A>T (p.Ala183=) | 4683 | NBN | Likely benign | 780661058 | RCV000564132|RCV000872699; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990483 | 90990483 | | | 8:g.90990483T>A | ClinGen:CA4802944 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.549A>G (p.Ala183=) | 4683 | NBN | Likely benign | 780661058 | RCV001024175|RCV001449403; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990483 | 90990483 | | | 8:g.90990483T>C | - | | |
NM_002485.5(NBN):c.548del (p.Ala183fs) | 4683 | NBN | Pathogenic | -1 | RCV002832813; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990484 | 90990484 | | | NC_000008.10:g.90990484del | - | | |
NM_002485.5(NBN):c.547G>A (p.Ala183Thr) | 4683 | NBN | Uncertain significance | 151070415 | RCV000475501|RCV000570581|RCV000586067; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90990485 | 90990485 | | | NC_000008.10:g.90990485C>T | ClinGen:CA4802945 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.541C>T (p.Leu181=) | 4683 | NBN | Likely benign | 1060504930 | RCV001468787; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990491 | 90990491 | | | NC_000008.10:g.90990491G>A | ClinGen:CA16612496 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.541C>A (p.Leu181Met) | 4683 | NBN | Uncertain significance | 1060504930 | RCV000636727; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990491 | 90990491 | | | NC_000008.10:g.90990491G>T | ClinGen:CA371660252 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.540C>T (p.Phe180=) | 4683 | NBN | Likely benign | 1060504928 | RCV000572876|RCV001441195|RCV002496844; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967 | 8 | 90990492 | 90990492 | | | NC_000008.10:g.90990492G>A | ClinGen:CA16612501 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.539T>G (p.Phe180Cys) | 4683 | NBN | Uncertain significance | 1060503457 | RCV000462336; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990493 | 90990493 | | | NC_000008.10:g.90990493A>C | ClinGen:CA16612375 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.527_538del (p.Tyr176_Glu179del) | 4683 | NBN | Uncertain significance | 1811866878 | RCV001318570; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990494 | 90990505 | | | 8:g.90990494_90990505del | - | | |
NM_002485.5(NBN):c.537A>T (p.Glu179Asp) | 4683 | NBN | Uncertain significance | 1554566673 | RCV000548351|RCV001024003; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990495 | 90990495 | | | NC_000008.10:g.90990495T>A | ClinGen:CA371660267 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs) | 4683 | NBN | Pathogenic | 1554566678 | RCV000574501|RCV001239591; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990495 | 90990497 | | | 8:g.90990496_90990497del | ClinGen:CA658657809 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.536A>T (p.Glu179Val) | 4683 | NBN | Uncertain significance | 864622578 | RCV000206504|RCV000575816|RCV001799634|RCV003468955; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90990496 | 90990496 | | | 8:g.90990496T>A | ClinGen:CA350524 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.535G>A (p.Glu179Lys) | 4683 | NBN | Uncertain significance | 1293382034 | RCV001023973|RCV001313559; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990497 | 90990497 | | | 8:g.90990497C>T | - | | |
NM_002485.5(NBN):c.534T>A (p.Thr178=) | 4683 | NBN | Likely benign | 2129888979 | RCV002192993|RCV002346371; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990498 | 90990498 | | | 90990498 | - | | |
NM_002485.5(NBN):c.532A>G (p.Thr178Ala) | 4683 | NBN | Uncertain significance | 2129889032 | RCV001959274; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990500 | 90990500 | | | 90990500 | - | | |
NM_002485.5(NBN):c.531del (p.Phe177fs) | 4683 | NBN | Likely pathogenic | 1057516787 | RCV000409476; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990501 | 90990501 | | | 8:g.90990501_90990501del | ClinGen:CA16041211 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.530_531del (p.Phe177fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002310296; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990501 | 90990502 | | | 90990500 | - | | |
NM_002485.5(NBN):c.530T>C (p.Phe177Ser) | 4683 | NBN | Uncertain significance | 1064796090 | RCV000482441|RCV001302493; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990502 | 90990502 | | | 8:g.90990502A>G | ClinGen:CA16618707 | CN169374 not specified; | |
NM_002485.5(NBN):c.529T>G (p.Phe177Val) | 4683 | NBN | Uncertain significance | 2129889154 | RCV001905946; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990503 | 90990503 | | | 90990503 | - | | |
NM_002485.5(NBN):c.528T>C (p.Tyr176=) | 4683 | NBN | Likely benign | 2129889177 | RCV001408854|RCV003284307; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990504 | 90990504 | | | 90990504 | - | | |
NM_002485.5(NBN):c.526T>A (p.Tyr176Asn) | 4683 | NBN | Uncertain significance | -1 | RCV003026543; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990506 | 90990506 | | | NC_000008.10:g.90990506A>T | - | | |
NM_002485.5(NBN):c.525A>G (p.Glu175=) | 4683 | NBN | Likely benign | 769400631 | RCV000613855|RCV000935979|RCV001192341; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990507 | 90990507 | | | 8:g.90990507T>C | ClinGen:CA4802946 | CN169374 not specified; | |
NM_002485.5(NBN):c.525A>C (p.Glu175Asp) | 4683 | NBN | Uncertain significance | -1 | RCV002340986|RCV003102712; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990507 | 90990507 | | | 90990507 | - | | |
NM_002485.5(NBN):c.523G>C (p.Glu175Gln) | 4683 | NBN | Uncertain significance | 730881861 | RCV000687653|RCV000771741|RCV003472188; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90990509 | 90990509 | | | 8:g.90990509C>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.522A>G (p.Pro174=) | 4683 | NBN | Likely benign | 1489530490 | RCV001493472; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990510 | 90990510 | | | NC_000008.10:g.90990510T>C | ClinGen:CA461831257 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.520_521insT (p.Pro174fs) | 4683 | NBN | Pathogenic | 2129889298 | RCV001382958; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990511 | 90990512 | | | 90990511 | - | | |
NM_002485.5(NBN):c.520C>A (p.Pro174Thr) | 4683 | NBN | Uncertain significance | 587778546 | RCV000121619|RCV000690603|RCV001023731; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990512 | 90990512 | | | 8:g.90990512G>T | ClinGen:CA160984 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.517A>G (p.Lys173Glu) | 4683 | NBN | Uncertain significance | 1563574056 | RCV000709063|RCV000781641; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90990515 | 90990515 | | | 8:g.90990515T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.516A>G (p.Val172=) | 4683 | NBN | Likely benign | 2129889397 | RCV001410653; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990516 | 90990516 | | | 90990516 | - | | |
NM_002485.5(NBN):c.515T>C (p.Val172Ala) | 4683 | NBN | Uncertain significance | 1554566701 | RCV000574936|RCV001800771|RCV002476214; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C00 | 8 | 90990517 | 90990517 | | | 8:g.90990517A>G | ClinGen:CA371660375 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.514G>A (p.Val172Ile) | 4683 | NBN | Uncertain significance | 1586101456 | RCV000811270|RCV001023619; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990518 | 90990518 | | | 8:g.90990518C>T | - | | |
NM_002485.5(NBN):c.496_512del (p.Ile166fs) | 4683 | NBN | Pathogenic | 758830069 | RCV000636716; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990520 | 90990536 | | | NC_000008.10:g.90990520_90990536del | ClinGen:CA4802947 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.511A>C (p.Ile171Leu) | 4683 | NBN | Uncertain significance | 61754966 | RCV000576061|RCV000636728; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990521 | 90990521 | | | 8:g.90990521T>G | ClinGen:CA181279296 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.510A>G (p.Pro170=) | 4683 | NBN | Likely benign | 772311947 | RCV000215638|RCV001394015; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990522 | 90990522 | | | 8:g.90990522T>C | ClinGen:CA4802948 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.509C>T (p.Pro170Leu) | 4683 | NBN | Uncertain significance | 587782411 | RCV000131450|RCV000457816|RCV003474777; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90990523 | 90990523 | | | 8:g.90990523G>A | ClinGen:CA168174 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.508C>G (p.Pro170Ala) | 4683 | NBN | Uncertain significance | 1554566720 | RCV000535863; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990524 | 90990524 | | | NC_000008.10:g.90990524G>C | ClinGen:CA371660403 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.506G>A (p.Arg169His) | 4683 | NBN | Uncertain significance | 776134250 | RCV000166315|RCV000214523|RCV000460960|RCV000780528|RCV003462210; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90990526 | 90990526 | | | 8:g.90990526C>T | ClinGen:CA195555 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) | 4683 | NBN | Conflicting interpretations of pathogenicity | 182756889 | RCV000115796|RCV000123218|RCV000587269|RCV000764786|RCV001030567|RCV001549273|RCV003389690; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90990527 | 90990527 | | | 8:g.90990527G>A | ClinGen:CA287937 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.504A>C (p.Gly168=) | 4683 | NBN | Likely benign | 1057521464 | RCV000418511|RCV001463309|RCV002339017; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990528 | 90990528 | | | 8:g.90990528T>G | ClinGen:CA16606148 | CN169374 not specified; | |
NM_002485.5(NBN):c.504A>G (p.Gly168=) | 4683 | NBN | Likely benign | 1057521464 | RCV001444660|RCV002350886; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990528 | 90990528 | | | 90990528 | - | | |
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) | 4683 | NBN | Uncertain significance | 1554566728 | RCV000559552|RCV000764787|RCV001023458|RCV001192404; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065, Orphanet:513; MONDO:MONDO:0009623,Med | 8 | 90990529 | 90990529 | | | NC_000008.10:g.90990529C>T | ClinGen:CA371660643 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.500G>A (p.Cys167Tyr) | 4683 | NBN | Uncertain significance | 1060503464 | RCV000461101; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990532 | 90990532 | | | NC_000008.10:g.90990532C>T | ClinGen:CA16612667 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.499dup (p.Cys167fs) | 4683 | NBN | Pathogenic | 1586101561 | RCV000796626; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990532 | 90990533 | | | 8:g.90990532_90990533insA | - | | |
NM_002485.5(NBN):c.499T>A (p.Cys167Ser) | 4683 | NBN | Uncertain significance | 1586101551 | RCV001023386|RCV001873370; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990533 | 90990533 | | | 8:g.90990533A>T | - | | |
NM_002485.5(NBN):c.498T>C (p.Ile166=) | 4683 | NBN | Likely benign | -1 | RCV003040408; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990534 | 90990534 | | | | - | | |
NM_002485.5(NBN):c.495C>G (p.Leu165=) | 4683 | NBN | Likely benign | 764290829 | RCV000547138|RCV000569686; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990537 | 90990537 | | | NC_000008.10:g.90990537G>C | ClinGen:CA4802949 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.495C>T (p.Leu165=) | 4683 | NBN | Likely benign | 764290829 | RCV000976890|RCV001023325; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990537 | 90990537 | | | 8:g.90990537G>A | - | | |
NM_002485.5(NBN):c.494T>G (p.Leu165Arg) | 4683 | NBN | Uncertain significance | 1060503458 | RCV000472142; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990538 | 90990538 | | | NC_000008.10:g.90990538A>C | ClinGen:CA16612670 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.493C>A (p.Leu165Ile) | 4683 | NBN | Uncertain significance | 776810966 | RCV000529846|RCV000571587|RCV001764556; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90990539 | 90990539 | | | NC_000008.10:g.90990539G>T | ClinGen:CA371660684 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.492A>G (p.Ala164=) | 4683 | NBN | Likely benign | 765493509 | RCV000220484|RCV001440097; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990540 | 90990540 | | | 8:g.90990540T>C | ClinGen:CA10578801 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.490G>T (p.Ala164Ser) | 4683 | NBN | Uncertain significance | 786201252 | RCV000163172|RCV001326092|RCV003467277; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90990542 | 90990542 | | | 8:g.90990542C>A | ClinGen:CA187645 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.490G>A (p.Ala164Thr) | 4683 | NBN | Uncertain significance | 786201252 | RCV001238775; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990542 | 90990542 | | | 8:g.90990542C>T | - | | |
NM_002485.5(NBN):c.486A>G (p.Ile162Met) | 4683 | NBN | Uncertain significance | 1554566760 | RCV000569087|RCV001800792; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990546 | 90990546 | | | 8:g.90990546T>C | ClinGen:CA371660713 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.485T>A (p.Ile162Lys) | 4683 | NBN | Uncertain significance | 1554566766 | RCV000558349; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990547 | 90990547 | | | NC_000008.10:g.90990547A>T | ClinGen:CA371660719 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.484A>G (p.Ile162Val) | 4683 | NBN | Uncertain significance | 750594114 | RCV000571569|RCV001361956; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990548 | 90990548 | | | NC_000008.10:g.90990548T>C | ClinGen:CA4802953 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.484A>C (p.Ile162Leu) | 4683 | NBN | Uncertain significance | 750594114 | RCV000819497; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990548 | 90990548 | | | 8:g.90990548T>G | - | | |
NM_002485.5(NBN):c.483A>G (p.Thr161=) | 4683 | NBN | Likely benign | 758276775 | RCV000166456|RCV000600836|RCV000673255|RCV001706087; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90990549 | 90990549 | | | 8:g.90990549T>C | ClinGen:CA195917 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.481-2A>G | 4683 | NBN | Likely pathogenic | 751567476 | RCV000483114|RCV001184207|RCV002525921; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990553 | 90990553 | | | 8:g.90990553T>C | ClinGen:CA16618708 | CN517202 not provided; | |
NM_002485.5(NBN):c.481-2A>T | 4683 | NBN | Pathogenic/Likely pathogenic | 751567476 | RCV000523496|RCV000569604|RCV000707500|RCV002497023|RCV003470656; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotyp | 8 | 90990553 | 90990553 | | | 8:g.90990553T>A | ClinGen:CA4802955 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.481-2A>C | 4683 | NBN | Likely pathogenic | 751567476 | RCV001971340; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990553 | 90990553 | | | 90990553 | - | | |
NM_002485.5(NBN):c.481-3T>C | 4683 | NBN | Uncertain significance | 1060503456 | RCV000470578|RCV002339186; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90990554 | 90990554 | | | NC_000008.10:g.90990554A>G | ClinGen:CA16612504 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.481-4G>A | 4683 | NBN | Benign/Likely benign | 754864893 | RCV000465095|RCV000775390|RCV003316627; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967 | 8 | 90990555 | 90990555 | | | NC_000008.10:g.90990555C>T | ClinGen:CA4802956 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.481-5T>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 2129890359 | RCV001772463|RCV002074009; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990556 | 90990556 | | | 90990556 | - | | |
NM_002485.5(NBN):c.481-7A>G | 4683 | NBN | Likely benign | 2129890380 | RCV001395703; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990558 | 90990558 | | | 90990558 | - | | |
NM_002485.5(NBN):c.481-7A>C | 4683 | NBN | Likely benign | 2129890380 | RCV001418707; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990558 | 90990558 | | | 90990558 | - | | |
NM_002485.5(NBN):c.481-9T>A | 4683 | NBN | Likely benign | 1563574400 | RCV000695238; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990560 | 90990560 | | | 8:g.90990560A>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.481-11C>T | 4683 | NBN | Likely benign | 2129890419 | RCV001355761|RCV002547616; | N | MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990562 | 90990562 | | | 90990562 | - | | |
NM_002485.5(NBN):c.481-18_481-17del | 4683 | NBN | Likely benign | 778286254 | RCV000479612|RCV002063694; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990568 | 90990569 | | | NC_000008.10:g.90990568_90990569del | ClinGen:CA4802957 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.481-18A>G | 4683 | NBN | Benign | 587781092 | RCV000127092|RCV002055696; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990569 | 90990569 | | | 8:g.90990569T>C | ClinGen:CA292414 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.481-19C>T | 4683 | NBN | Likely benign | 1563574425 | RCV002536670; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90990570 | 90990570 | | | NC_000008.10:g.90990570G>A | - | | |
NM_002485.5(NBN):c.480+20C>G | 4683 | NBN | Likely benign | 371204291 | RCV002160086; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992942 | 90992942 | | | 90992942 | - | | |
NM_002485.5(NBN):c.480+18T>C | 4683 | NBN | Likely benign | 1459034801 | RCV002068465; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992944 | 90992944 | | | 8:g.90992944A>G | - | | |
NM_002485.5(NBN):c.480+15T>C | 4683 | NBN | Likely benign | 1554567838 | RCV002065101; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992947 | 90992947 | | | NC_000008.10:g.90992947A>G | ClinGen:CA658683517 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.480+14C>G | 4683 | NBN | Likely benign | -1 | RCV003006085; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992948 | 90992948 | | | NC_000008.10:g.90992948G>C | - | | |
NM_002485.5(NBN):c.480+12G>A | 4683 | NBN | Likely benign | 755689211 | RCV002560825; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992950 | 90992950 | | | 8:g.90992950C>T | - | | |
NM_002485.5(NBN):c.480+10A>G | 4683 | NBN | Likely benign | 878854512 | RCV000226488; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992952 | 90992952 | | | NC_000008.10:g.90992952T>C | ClinGen:CA10582606 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.11:g.(?_89980724)_(89984571_?)del | 4683 | NBN | Pathogenic | -1 | RCV001033017; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992952 | 90996799 | | | -1 | - | | |
NM_002485.5(NBN):c.480+10del | 4683 | NBN | Likely benign | 1812019032 | RCV001430721; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992952 | 90992952 | | | 90992951 | - | | |
NC_000008.10:g.(?_90992952)_(90993761_?)del | 4683 | NBN | Likely pathogenic | -1 | RCV002024795; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992952 | 90993761 | | | -1 | - | | |
NM_002485.5(NBN):c.480+9A>G | 4683 | NBN | Likely benign | -1 | RCV003020829; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992953 | 90992953 | | | NC_000008.10:g.90992953T>C | - | | |
NM_002485.5(NBN):c.480+8G>A | 4683 | NBN | Likely benign | 777117690 | RCV000460331; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992954 | 90992954 | | | NC_000008.10:g.90992954C>T | ClinGen:CA4802977 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.480+7T>G | 4683 | NBN | Likely benign | 1554567841 | RCV000545699; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992955 | 90992955 | | | 8:g.90992955A>C | ClinGen:CA658657810 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.480+7T>C | 4683 | NBN | Likely benign | 1554567841 | RCV002089969; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992955 | 90992955 | | | 90992955 | - | | |
NM_002485.5(NBN):c.480+5G>A | 4683 | NBN | Uncertain significance | 753578226 | RCV000230103; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992957 | 90992957 | | | NC_000008.10:g.90992957C>T | ClinGen:CA4802978 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.480+4G>T | 4683 | NBN | Uncertain significance | 1812019530 | RCV001231614; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992958 | 90992958 | | | 8:g.90992958C>A | - | | |
NM_002485.5(NBN):c.480+3A>G | 4683 | NBN | Uncertain significance | 756817252 | RCV000167302|RCV000486118|RCV000477069|RCV003468806; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90992959 | 90992959 | | | 8:g.90992959T>C | ClinGen:CA197966 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.480+3A>T | 4683 | NBN | Uncertain significance | 756817252 | RCV001373022; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992959 | 90992959 | | | 90992959 | - | | |
NM_002485.5(NBN):c.480+2T>G | 4683 | NBN | Likely pathogenic | -1 | RCV002337877|RCV003096473; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992960 | 90992960 | | | 90992960 | - | | |
NC_000008.11:g.(?_89980734)_(89984671_?)del | 4683 | NBN | Pathogenic | -1 | RCV000461971; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992962 | 90996899 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.480A>G (p.Lys160=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554567842 | RCV000567562|RCV000636809; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992962 | 90992962 | | | 8:g.90992962T>C | ClinGen:CA461831330 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.475A>G (p.Ile159Val) | 4683 | NBN | Uncertain significance | 747319065 | RCV001959871; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992967 | 90992967 | | | 90992967 | - | | |
NM_002485.5(NBN):c.474del (p.Ile159fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1563578540 | RCV000689922|RCV002334278|RCV003472198; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90992968 | 90992968 | | | 8:g.90992968_90992968del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.474C>T (p.Thr158=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1563578527 | RCV000774889|RCV001474735; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992968 | 90992968 | | | NC_000008.10:g.90992968G>A | - | | |
NM_002485.5(NBN):c.472A>T (p.Thr158Ser) | 4683 | NBN | Uncertain significance | 2129908259 | RCV002048778; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992970 | 90992970 | | | 90992970 | - | | |
NM_002485.5(NBN):c.471T>C (p.Val157=) | 4683 | NBN | Likely benign | 864622275 | RCV001459484|RCV002336558; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90992971 | 90992971 | | | 8:g.90992971A>G | ClinGen:CA347991 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.471T>G (p.Val157=) | 4683 | NBN | Likely benign | 864622275 | RCV001421312; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992971 | 90992971 | | | 90992971 | - | | |
NM_002485.5(NBN):c.469G>A (p.Val157Ile) | 4683 | NBN | Uncertain significance | 1060503486 | RCV000472954|RCV002257725; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90992973 | 90992973 | | | NC_000008.10:g.90992973C>T | ClinGen:CA16612551 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.468A>C (p.Lys156Asn) | 4683 | NBN | Conflicting interpretations of pathogenicity | 730881858 | RCV000160796|RCV000222254|RCV000456204|RCV000781643; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90992974 | 90992974 | | | NC_000008.10:g.90992974T>G | ClinGen:CA299636 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.468del (p.Val157fs) | 4683 | NBN | Pathogenic | 1563578596 | RCV000699739|RCV002334343; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90992974 | 90992974 | | | NC_000008.10:g.90992976del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.462A>T (p.Ser154=) | 4683 | NBN | Likely benign | 1214415718 | RCV001022806|RCV001471670; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992980 | 90992980 | | | 8:g.90992980T>A | - | | |
NM_002485.5(NBN):c.462A>G (p.Ser154=) | 4683 | NBN | Likely benign | 1214415718 | RCV002082508; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992980 | 90992980 | | | 90992980 | - | | |
NM_002485.5(NBN):c.459A>G (p.Val153=) | 4683 | NBN | Likely benign | 566630862 | RCV000167410|RCV000422977|RCV000552380|RCV001354722; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90992983 | 90992983 | | | 8:g.90992983T>C | ClinGen:CA198223 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.459A>C (p.Val153=) | 4683 | NBN | Likely benign | 566630862 | RCV000166526|RCV000539610; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992983 | 90992983 | | | 8:g.90992983T>G | ClinGen:CA196100 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.458T>C (p.Val153Ala) | 4683 | NBN | Uncertain significance | 1554567865 | RCV000598503|RCV001022749|RCV001800818; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992984 | 90992984 | | | 8:g.90992984A>G | ClinGen:CA371661576 | CN169374 not specified; | |
NM_002485.5(NBN):c.456G>A (p.Met152Ile) | 4683 | NBN | Conflicting interpretations of pathogenicity | 201816949 | RCV000115795|RCV000197783|RCV000509203|RCV000515395|RCV000781635|RCV001356300|RCV003467061; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90992986 | 90992986 | | | 8:g.90992986C>T | ClinGen:CA287934 | C0023449 613065 Acute lymphoid leukemia; | |
NM_002485.5(NBN):c.456G>T (p.Met152Ile) | 4683 | NBN | Likely benign | -1 | RCV002816679; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992986 | 90992986 | | | NC_000008.10:g.90992986C>A | - | | |
NM_002485.5(NBN):c.454A>G (p.Met152Val) | 4683 | NBN | Uncertain significance | 1554567872 | RCV000566919|RCV000701299; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992988 | 90992988 | | | 8:g.90992988T>C | ClinGen:CA371661606 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.453C>T (p.Val151=) | 4683 | NBN | Likely benign | 1176879721 | RCV000636795|RCV000679466|RCV002334082; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90992989 | 90992989 | | | 8:g.90992989G>A | ClinGen:CA461831346 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.451G>T (p.Val151Phe) | 4683 | NBN | Uncertain significance | 587781549 | RCV000129563|RCV001225616; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992991 | 90992991 | | | 8:g.90992991C>A | ClinGen:CA164672 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.448del (p.Val151fs) | 4683 | NBN | Pathogenic | 1563578727 | RCV002535601; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992994 | 90992994 | | | NC_000008.10:g.90992995del | - | | |
NM_002485.5(NBN):c.447C>T (p.His149=) | 4683 | NBN | Likely benign | 868089138 | RCV001022548|RCV001494227; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90992995 | 90992995 | | | 8:g.90992995G>A | - | | |
NM_002485.5(NBN):c.447C>A (p.His149Gln) | 4683 | NBN | Uncertain significance | 868089138 | RCV001306778|RCV002327673; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90992995 | 90992995 | | | 90992995 | - | | |
NM_002485.5(NBN):c.445del (p.His149fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554567892 | RCV000568920|RCV000636715|RCV000985878|RCV003470830; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90992997 | 90992997 | | | 8:g.90992997_90992997del | ClinGen:CA658657811 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.445C>T (p.His149Tyr) | 4683 | NBN | Uncertain significance | 1161054161 | RCV001090212|RCV001862672|RCV002327376; | N | MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90992997 | 90992997 | | | 8:g.90992997G>A | - | | |
NM_002485.5(NBN):c.442A>G (p.Thr148Ala) | 4683 | NBN | Uncertain significance | 1060503479 | RCV000457136|RCV000775713|RCV002248692; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90993000 | 90993000 | | | NC_000008.10:g.90993000T>C | ClinGen:CA16612552 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.442A>T (p.Thr148Ser) | 4683 | NBN | Uncertain significance | 1060503479 | RCV001552127|RCV001882630; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993000 | 90993000 | | | 90993000 | - | | |
NM_002485.5(NBN):c.441C>T (p.Cys147=) | 4683 | NBN | Benign/Likely benign | 137857529 | RCV000198138|RCV000214383|RCV000508575|RCV001706185; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900 | 8 | 90993001 | 90993001 | | | 8:g.90993001G>A | ClinGen:CA337675 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.440G>A (p.Cys147Tyr) | 4683 | NBN | Uncertain significance | -1 | RCV002297149; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993002 | 90993002 | | | 90993002 | - | | |
NM_002485.5(NBN):c.438A>G (p.Glu146=) | 4683 | NBN | Likely benign | 2129908816 | RCV001483047; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993004 | 90993004 | | | 90993004 | - | | |
NM_002485.5(NBN):c.436G>T (p.Glu146Ter) | 4683 | NBN | Pathogenic | 1812023357 | RCV001220913|RCV002327522; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993006 | 90993006 | | | 8:g.90993006C>A | - | | |
NM_002485.5(NBN):c.436G>A (p.Glu146Lys) | 4683 | NBN | Uncertain significance | 1812023357 | RCV001222707; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993006 | 90993006 | | | 8:g.90993006C>T | - | | |
NM_002485.5(NBN):c.432A>G (p.Thr144=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 886043003 | RCV000394577|RCV001022303|RCV001436992; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993010 | 90993010 | | | 8:g.90993010T>C | ClinGen:CA10604979 | CN169374 not specified; | |
NM_002485.5(NBN):c.432del (p.Glu145fs) | 4683 | NBN | Likely pathogenic | 1554567902 | RCV000665020; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993010 | 90993010 | | | 8:g.90993010_90993010del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.432A>C (p.Thr144=) | 4683 | NBN | Likely benign | 886043003 | RCV002093681; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993010 | 90993010 | | | 90993010 | - | | |
NM_002485.5(NBN):c.431C>G (p.Thr144Arg) | 4683 | NBN | Uncertain significance | 1554567906 | RCV000777594|RCV000818512; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993011 | 90993011 | | | NC_000008.10:g.90993011G>C | - | | |
NM_002485.5(NBN):c.430A>G (p.Thr144Ala) | 4683 | NBN | Uncertain significance | 1812023859 | RCV001343667; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993012 | 90993012 | | | 90993012 | - | | |
NM_002485.5(NBN):c.429G>A (p.Trp143Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1812023981 | RCV001061415|RCV003462589; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993013 | 90993013 | | | 8:g.90993013C>T | - | | |
NM_002485.5(NBN):c.427T>C (p.Trp143Arg) | 4683 | NBN | Uncertain significance | 770995856 | RCV001298630|RCV002327640; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993015 | 90993015 | | | 90993015 | - | | |
NM_002485.5(NBN):c.426T>C (p.Asn142=) | 4683 | NBN | Benign/Likely benign | 143070291 | RCV000163797|RCV000204472|RCV000433173; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90993016 | 90993016 | | | 8:g.90993016A>G | ClinGen:CA189208 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) | 4683 | NBN | Conflicting interpretations of pathogenicity | 769414 | RCV000115794|RCV000121617|RCV000168260|RCV000515292|RCV000589414|RCV001355243; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00 | 8 | 90993017 | 90993017 | | | 8:g.90993017T>C | ClinGen:CA160978,UniProtKB:O60934#VAR_051226 | C0023449 613065 Acute lymphoid leukemia; | |
NM_002485.5(NBN):c.424A>G (p.Asn142Asp) | 4683 | NBN | Uncertain significance | 1586106848 | RCV000794767; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993018 | 90993018 | | | 8:g.90993018T>C | - | | |
NM_002485.5(NBN):c.421A>G (p.Asn141Asp) | 4683 | NBN | Uncertain significance | 2129909122 | RCV001974368; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993021 | 90993021 | | | 90993021 | - | | |
NM_002485.5(NBN):c.420A>G (p.Val140=) | 4683 | NBN | Likely benign | 767296279 | RCV000166401|RCV001478197|RCV001563083; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90993022 | 90993022 | | | 8:g.90993022T>C | ClinGen:CA195776 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.419T>C (p.Val140Ala) | 4683 | NBN | Uncertain significance | 752672571 | RCV001978389; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993023 | 90993023 | | | 90993023 | - | | |
NM_002485.5(NBN):c.417T>C (p.Thr139=) | 4683 | NBN | Likely benign | 760586161 | RCV000572939|RCV001466187; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993025 | 90993025 | | | NC_000008.10:g.90993025A>G | ClinGen:CA4802984 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.416C>T (p.Thr139Ile) | 4683 | NBN | Uncertain significance | 2129909239 | RCV001962199; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993026 | 90993026 | | | 90993026 | - | | |
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) | 4683 | NBN | Conflicting interpretations of pathogenicity | 543852763 | RCV000165497|RCV000168457|RCV001706081|RCV002225484; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145 | 8 | 90993027 | 90993027 | | | 8:g.90993027T>C | ClinGen:CA193554 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.414T>C (p.Phe138=) | 4683 | NBN | Likely benign | 1554567933 | RCV000531732|RCV000776657; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993028 | 90993028 | | | NC_000008.10:g.90993028A>G | ClinGen:CA461831364 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.411A>T (p.Gly137=) | 4683 | NBN | Likely benign | -1 | RCV002838013; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993031 | 90993031 | | | | - | | |
NM_002485.5(NBN):c.409G>A (p.Gly137Arg) | 4683 | NBN | Uncertain significance | -1 | RCV003042224; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993033 | 90993033 | | | NC_000008.10:g.90993033C>T | - | | |
NM_002485.5(NBN):c.407dup (p.Gly137fs) | 4683 | NBN | Pathogenic | 747462107 | RCV001875843; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993034 | 90993035 | | | 8:g.90993034_90993035insC | - | | |
NM_002485.5(NBN):c.407G>A (p.Gly136Glu) | 4683 | NBN | Uncertain significance | 1812025943 | RCV001350373; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993035 | 90993035 | | | 90993035 | - | | |
NM_002485.5(NBN):c.406G>A (p.Gly136Arg) | 4683 | NBN | Uncertain significance | 1554567936 | RCV000555403|RCV000581461|RCV001193651; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90993036 | 90993036 | | | 8:g.90993036C>T | ClinGen:CA371661869 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.405T>G (p.Leu135=) | 4683 | NBN | Likely benign | 1554567937 | RCV000538387; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993037 | 90993037 | | | 8:g.90993037A>C | ClinGen:CA461831371 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.403C>G (p.Leu135Val) | 4683 | NBN | Uncertain significance | 1409617560 | RCV000698957|RCV001021730; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993039 | 90993039 | | | 8:g.90993039G>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.402A>G (p.Gln134=) | 4683 | NBN | Likely benign | 2129909448 | RCV002193861|RCV002352942; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993040 | 90993040 | | | 90993040 | - | | |
NM_002485.5(NBN):c.401A>G (p.Gln134Arg) | 4683 | NBN | Uncertain significance | 1586106962 | RCV001021672|RCV001365062; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993041 | 90993041 | | | 8:g.90993041T>C | - | | |
NM_002485.5(NBN):c.401A>C (p.Gln134Pro) | 4683 | NBN | Uncertain significance | -1 | RCV002847790; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993041 | 90993041 | | | NC_000008.10:g.90993041T>G | - | | |
NM_002485.5(NBN):c.393_400del (p.Ile132fs) | 4683 | NBN | Pathogenic | 2129909528 | RCV001870735|RCV002359320; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993042 | 90993049 | | | 90993041 | - | | |
NM_002485.5(NBN):c.399G>A (p.Leu133=) | 4683 | NBN | Likely benign | 2129909551 | RCV001458201|RCV002322501; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993043 | 90993043 | | | 90993043 | - | | |
NM_002485.5(NBN):c.399G>T (p.Leu133Phe) | 4683 | NBN | Uncertain significance | 2129909551 | RCV002006176; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993043 | 90993043 | | | 90993043 | - | | |
NM_002485.5(NBN):c.397T>C (p.Leu133=) | 4683 | NBN | Likely benign | 1229464840 | RCV000565236|RCV000614784|RCV000636799; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993045 | 90993045 | | | 8:g.90993045A>G | ClinGen:CA461831376 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.396A>G (p.Ile132Met) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1060503462 | RCV000460586|RCV001021549|RCV001800688; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90993046 | 90993046 | | | NC_000008.10:g.90993046T>C | ClinGen:CA16612674 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.396A>T (p.Ile132=) | 4683 | NBN | Likely benign | 1060503462 | RCV001506492; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993046 | 90993046 | | | 90993046 | - | | |
NM_002485.5(NBN):c.394A>G (p.Ile132Val) | 4683 | NBN | Conflicting interpretations of pathogenicity | 756946899 | RCV000223570|RCV000636732; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993048 | 90993048 | | | 8:g.90993048T>C | ClinGen:CA4802987 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.393T>G (p.Ala131=) | 4683 | NBN | Likely benign | 372061224 | RCV000163560|RCV000549688|RCV001721048; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90993049 | 90993049 | | | 8:g.90993049A>C | ClinGen:CA188619 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.392C>G (p.Ala131Gly) | 4683 | NBN | Uncertain significance | 1469136096 | RCV000699244|RCV001189744|RCV003465607; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993050 | 90993050 | | | 8:g.90993050G>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.392C>T (p.Ala131Val) | 4683 | NBN | Uncertain significance | 1469136096 | RCV001069681; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993050 | 90993050 | | | 8:g.90993050G>A | - | | |
NM_002485.5(NBN):c.390A>G (p.Gln130=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 146150499 | RCV000768028|RCV000799906|RCV001021414|RCV001619837|RCV002271580; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Ph | 8 | 90993052 | 90993052 | | | NC_000008.10:g.90993052T>C | - | | |
NM_002485.5(NBN):c.388C>G (p.Gln130Glu) | 4683 | NBN | Uncertain significance | 1586107038 | RCV000816700|RCV001021363|RCV003473494; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993054 | 90993054 | | | 8:g.90993054G>C | - | | |
NM_002485.5(NBN):c.385A>C (p.Asn129His) | 4683 | NBN | Uncertain significance | 1060503477 | RCV000456497; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993057 | 90993057 | | | NC_000008.10:g.90993057T>G | ClinGen:CA16612380 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.385A>G (p.Asn129Asp) | 4683 | NBN | Uncertain significance | 1060503477 | RCV001306498|RCV002357110; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993057 | 90993057 | | | 90993057 | - | | |
NM_002485.5(NBN):c.384A>G (p.Leu128=) | 4683 | NBN | Likely benign | 587780782 | RCV000123217|RCV000219664|RCV000587700; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90993058 | 90993058 | | | 8:g.90993058T>C | ClinGen:CA332823 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.383T>G (p.Leu128Ter) | 4683 | NBN | Pathogenic | 1060503463 | RCV000467395|RCV002365663; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993059 | 90993059 | | | NC_000008.10:g.90993059A>C | ClinGen:CA16612505 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs) | 4683 | NBN | Likely pathogenic | 1554567960 | RCV000674686; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993059 | 90993062 | | | 8:g.90993060_90993062del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.381T>C (p.Ala127=) | 4683 | NBN | Benign/Likely benign | 61754795 | RCV000119323|RCV000157764|RCV000178181|RCV000988088|RCV003315708|RCV002498545; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontolog | 8 | 90993061 | 90993061 | | | 8:g.90993061A>G | ClinGen:CA202746 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.380C>G (p.Ala127Gly) | 4683 | NBN | Uncertain significance | 1554567966 | RCV000539193|RCV002358487; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993062 | 90993062 | | | 8:g.90993062G>C | ClinGen:CA371662000 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.378T>G (p.Thr126=) | 4683 | NBN | Likely benign | 1586107111 | RCV001021149|RCV001397572; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993064 | 90993064 | | | 8:g.90993064A>C | - | | |
NM_002485.5(NBN):c.377del (p.Thr126fs) | 4683 | NBN | Pathogenic | 1554567972 | RCV000636723; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993065 | 90993065 | | | 8:g.90993065_90993065del | ClinGen:CA658797121 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.376A>T (p.Thr126Ser) | 4683 | NBN | Uncertain significance | 1484120047 | RCV000804370|RCV001191218|RCV001592998; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90993066 | 90993066 | | | 8:g.90993066T>A | - | | |
NM_002485.5(NBN):c.375A>G (p.Lys125=) | 4683 | NBN | Likely benign | 1554567977 | RCV000611524|RCV000943643|RCV001021064; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993067 | 90993067 | | | 8:g.90993067T>C | ClinGen:CA461831388 | CN169374 not specified; | |
NM_002485.5(NBN):c.373A>C (p.Lys125Gln) | 4683 | NBN | Uncertain significance | 1563579253 | RCV000706412|RCV001021009; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993069 | 90993069 | | | 8:g.90993069T>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.371G>A (p.Gly124Glu) | 4683 | NBN | Uncertain significance | 781671474 | RCV000229933; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993071 | 90993071 | | | 8:g.90993071C>T | ClinGen:CA4802989 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.370G>A (p.Gly124Arg) | 4683 | NBN | Uncertain significance | 1064794806 | RCV000480135|RCV000550486|RCV001020944; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993072 | 90993072 | | | 8:g.90993072C>T | ClinGen:CA16618709 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.367T>G (p.Ser123Ala) | 4683 | NBN | Uncertain significance | 786203615 | RCV000167005|RCV001041662; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993075 | 90993075 | | | 8:g.90993075A>C | ClinGen:CA197249 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.366C>T (p.Val122=) | 4683 | NBN | Likely benign | 748684665 | RCV000222590|RCV000937919; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993076 | 90993076 | | | 8:g.90993076G>A | ClinGen:CA4802990 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.363T>A (p.Asp121Glu) | 4683 | NBN | Uncertain significance | 987369991 | RCV000537971|RCV002456093; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993079 | 90993079 | | | NC_000008.10:g.90993079A>T | ClinGen:CA181280399 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.362A>G (p.Asp121Gly) | 4683 | NBN | Uncertain significance | 770163751 | RCV000480445|RCV001276021; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993080 | 90993080 | | | 8:g.90993080T>C | ClinGen:CA4802991 | CN169374 not specified; | |
NM_002485.5(NBN):c.362A>C (p.Asp121Ala) | 4683 | NBN | Uncertain significance | -1 | RCV003009452; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993080 | 90993080 | | | NC_000008.10:g.90993080T>G | - | | |
NM_002485.5(NBN):c.362A>T (p.Asp121Val) | 4683 | NBN | Uncertain significance | -1 | RCV003032482; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993080 | 90993080 | | | NC_000008.10:g.90993080T>A | - | | |
NM_002485.5(NBN):c.360A>G (p.Leu120=) | 4683 | NBN | Likely benign | 1563579373 | RCV000774229|RCV000938037; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993082 | 90993082 | | | NC_000008.10:g.90993082T>C | - | | |
NM_002485.5(NBN):c.359T>C (p.Leu120Ser) | 4683 | NBN | Uncertain significance | 1563579387 | RCV000705028|RCV002458309; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993083 | 90993083 | | | 8:g.90993083A>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.359T>G (p.Leu120Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1563579387 | RCV001206069|RCV003346362|RCV003469334; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993083 | 90993083 | | | 8:g.90993083A>C | - | | |
NM_002485.5(NBN):c.351_359del (p.Ser118_Leu120del) | 4683 | NBN | Uncertain significance | 2129910321 | RCV001922115|RCV002458717; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993083 | 90993091 | | | 90993082 | - | | |
NM_002485.5(NBN):c.357T>C (p.Cys119=) | 4683 | NBN | Likely benign | 2129910339 | RCV001416440; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993085 | 90993085 | | | 90993085 | - | | |
NM_002485.5(NBN):c.356G>T (p.Cys119Phe) | 4683 | NBN | Uncertain significance | 749272832 | RCV000574113|RCV001372748; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993086 | 90993086 | | | 8:g.90993086C>A | ClinGen:CA371662094 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.356G>C (p.Cys119Ser) | 4683 | NBN | Uncertain significance | 749272832 | RCV000636734|RCV001020638; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993086 | 90993086 | | | NC_000008.10:g.90993086C>G | ClinGen:CA371662095 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.356G>A (p.Cys119Tyr) | 4683 | NBN | Uncertain significance | 749272832 | RCV001020635|RCV001321192; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993086 | 90993086 | | | 8:g.90993086C>T | - | | |
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) | 4683 | NBN | Uncertain significance | 730881841 | RCV000198706|RCV000575427|RCV000656924|RCV001355557|RCV002484998|RCV003474832; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMI | 8 | 90993087 | 90993089 | | | NC_000008.10:g.90993088AGA[1] | ClinGen:CA299576 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.353C>T (p.Ser118Phe) | 4683 | NBN | Uncertain significance | -1 | RCV002459472|RCV003099550; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993089 | 90993089 | | | 90993089 | - | | |
NM_002485.5(NBN):c.353del (p.Ser118fs) | 4683 | NBN | Pathogenic | -1 | RCV003031986; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993089 | 90993089 | | | NC_000008.10:g.90993089del | - | | |
NM_002485.5(NBN):c.352del (p.Ser118fs) | 4683 | NBN | Pathogenic | 2129910401 | RCV001941965; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993090 | 90993090 | | | 90993089 | - | | |
NM_002485.5(NBN):c.351T>G (p.Ser117=) | 4683 | NBN | Likely benign | 1163807799 | RCV002186483|RCV003355828; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993091 | 90993091 | | | 90993091 | - | | |
NM_002485.5(NBN):c.350C>T (p.Ser117Phe) | 4683 | NBN | Uncertain significance | 1060503468 | RCV000471065|RCV001190863|RCV003476114; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993092 | 90993092 | | | NC_000008.10:g.90993092G>A | ClinGen:CA16612506 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.350C>A (p.Ser117Tyr) | 4683 | NBN | Uncertain significance | 1060503468 | RCV001036608; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993092 | 90993092 | | | 8:g.90993092G>T | - | | |
NM_002485.5(NBN):c.350C>G (p.Ser117Cys) | 4683 | NBN | Uncertain significance | 1060503468 | RCV001183671|RCV002560846; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993092 | 90993092 | | | 8:g.90993092G>C | - | | |
NM_002485.5(NBN):c.349T>C (p.Ser117Pro) | 4683 | NBN | Uncertain significance | 1563579445 | RCV000697167|RCV002458261; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993093 | 90993093 | | | 8:g.90993093A>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.346T>C (p.Cys116Arg) | 4683 | NBN | Uncertain significance | 1586107344 | RCV000800926; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993096 | 90993096 | | | 8:g.90993096A>G | - | | |
NM_002485.5(NBN):c.343G>T (p.Ala115Ser) | 4683 | NBN | Uncertain significance | 876658434 | RCV000222524|RCV001341247; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993099 | 90993099 | | | 8:g.90993099C>A | ClinGen:CA10578803 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.343G>A (p.Ala115Thr) | 4683 | NBN | Uncertain significance | 876658434 | RCV000819413|RCV002453878; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993099 | 90993099 | | | 8:g.90993099C>T | - | | |
NM_002485.5(NBN):c.342T>G (p.Val114=) | 4683 | NBN | Likely benign | 1563579495 | RCV001416654; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993100 | 90993100 | | | NC_000008.10:g.90993100A>C | - | | |
NM_002485.5(NBN):c.341T>G (p.Val114Gly) | 4683 | NBN | Uncertain significance | 2129910604 | RCV001923976; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993101 | 90993101 | | | 90993101 | - | | |
NM_002485.5(NBN):c.340G>T (p.Val114Phe) | 4683 | NBN | Conflicting interpretations of pathogenicity | 771034958 | RCV000206877|RCV000220601|RCV000486552|RCV000767209|RCV000764790|RCV003474978; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:000480 | 8 | 90993102 | 90993102 | | | 8:g.90993102C>A | ClinGen:CA350859 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.340G>A (p.Val114Ile) | 4683 | NBN | Uncertain significance | 771034958 | RCV000217636|RCV000462040; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993102 | 90993102 | | | 8:g.90993102C>T | ClinGen:CA4802994 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.339G>A (p.Leu113=) | 4683 | NBN | Likely benign | 774622977 | RCV000222102|RCV001448806; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993103 | 90993103 | | | 8:g.90993103C>T | ClinGen:CA4802995 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.339G>T (p.Leu113Phe) | 4683 | NBN | Uncertain significance | 774622977 | RCV001369574; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993103 | 90993103 | | | 90993103 | - | | |
NM_002485.5(NBN):c.337T>C (p.Leu113=) | 4683 | NBN | Likely benign | 2129910690 | RCV001393393; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993105 | 90993105 | | | 90993105 | - | | |
NM_002485.5(NBN):c.335C>G (p.Pro112Arg) | 4683 | NBN | Uncertain significance | 759723870 | RCV000470002|RCV000478392|RCV002323751; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993107 | 90993107 | | | NC_000008.10:g.90993107G>C | ClinGen:CA4802996 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.335C>T (p.Pro112Leu) | 4683 | NBN | Uncertain significance | 759723870 | RCV001020084|RCV001233028; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993107 | 90993107 | | | 8:g.90993107G>A | - | | |
NM_002485.5(NBN):c.335del (p.Pro112fs) | 4683 | NBN | Pathogenic | 2129910740 | RCV002035348; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993107 | 90993107 | | | 90993106 | - | | |
NM_002485.5(NBN):c.333G>A (p.Glu111=) | 4683 | NBN | Likely benign | 376455714 | RCV000162512|RCV000234289|RCV000441434|RCV001721021; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900 | 8 | 90993109 | 90993109 | | | 8:g.90993109C>T | ClinGen:CA186384 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.332A>C (p.Glu111Ala) | 4683 | NBN | Uncertain significance | 876659320 | RCV000220573|RCV001219804|RCV001770177; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90993110 | 90993110 | | | 8:g.90993110T>G | ClinGen:CA10578804 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.332A>G (p.Glu111Gly) | 4683 | NBN | Uncertain significance | 876659320 | RCV000481220|RCV000557130|RCV002323817; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993110 | 90993110 | | | 8:g.90993110T>C | ClinGen:CA16618710 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.330dup (p.Glu111Ter) | 4683 | NBN | Pathogenic | 2129910887 | RCV001944055; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993111 | 90993112 | | | 90993111 | - | | |
NM_002485.5(NBN):c.331G>C (p.Glu111Gln) | 4683 | NBN | Uncertain significance | -1 | RCV003059233; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993111 | 90993111 | | | NC_000008.10:g.90993111C>G | - | | |
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter) | 4683 | NBN | Pathogenic | 1057519585 | RCV000417080|RCV003138000; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90993112 | 90993112 | | | 8:g.90993112A>C | ClinGen:CA16044376 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.329A>G (p.Tyr110Cys) | 4683 | NBN | Uncertain significance | 1355269482 | RCV000696752|RCV001019774; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993113 | 90993113 | | | 8:g.90993113T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.327G>A (p.Glu109=) | 4683 | NBN | Likely benign | 1554568031 | RCV001432517; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993115 | 90993115 | | | NC_000008.10:g.90993115C>T | ClinGen:CA461831418 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.327G>T (p.Glu109Asp) | 4683 | NBN | Uncertain significance | -1 | RCV002445752|RCV003099360; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993115 | 90993115 | | | 90993115 | - | | |
NM_002485.5(NBN):c.323T>C (p.Ile108Thr) | 4683 | NBN | Uncertain significance | 775217949 | RCV000478600|RCV000567115|RCV000818428; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993119 | 90993119 | | | 8:g.90993119A>G | ClinGen:CA4802997 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.322A>G (p.Ile108Val) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1286492027 | RCV001213378|RCV002322033; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993120 | 90993120 | | | 8:g.90993120T>C | - | | |
NM_002485.5(NBN):c.322A>C (p.Ile108Leu) | 4683 | NBN | Uncertain significance | 1286492027 | RCV001359887; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993120 | 90993120 | | | 90993120 | - | | |
NM_002485.5(NBN):c.321A>G (p.Arg107=) | 4683 | NBN | Uncertain significance | 1812034788 | RCV001238448; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993121 | 90993121 | | | 8:g.90993121T>C | - | | |
NM_002485.5(NBN):c.321-2A>G | 4683 | NBN | Likely pathogenic | 587777931 | RCV000119854|RCV002514610|RCV003162555; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993123 | 90993123 | | | NC_000008.10:g.90993123T>C | ClinGen:CA156443 | CN169374 not specified; | |
NM_002485.5(NBN):c.321-3C>T | 4683 | NBN | Uncertain significance | 751356470 | RCV000220537|RCV000205632|RCV000560944|RCV002222443|RCV003468940; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90993124 | 90993124 | | | 8:g.90993124G>A | ClinGen:CA349762 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.321-3C>G | 4683 | NBN | Uncertain significance | -1 | RCV003017791|RCV003170850; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993124 | 90993124 | | | NC_000008.10:g.90993124G>C | - | | |
NM_002485.5(NBN):c.321-11_321-6del | 4683 | NBN | Uncertain significance | 1812035299 | RCV001034874; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993127 | 90993132 | | | 8:g.90993127_90993132del | - | | |
NM_002485.5(NBN):c.321-6T>G | 4683 | NBN | Uncertain significance | -1 | RCV002828078; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993127 | 90993127 | | | NC_000008.10:g.90993127A>C | - | | |
NM_002485.5(NBN):c.321-6T>C | 4683 | NBN | Likely benign | -1 | RCV002872664; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993127 | 90993127 | | | NC_000008.10:g.90993127A>G | - | | |
NM_002485.5(NBN):c.321-8A>G | 4683 | NBN | Likely benign | 1586107521 | RCV001430119; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993129 | 90993129 | | | 8:g.90993129T>C | - | | |
NM_002485.5(NBN):c.321-9C>T | 4683 | NBN | Likely benign | 760664393 | RCV002145656; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993130 | 90993130 | | | 90993130 | - | | |
NM_002485.5(NBN):c.321-13T>C | 4683 | NBN | Likely benign | 1563579693 | RCV002128070; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993134 | 90993134 | | | 90993134 | - | | |
NM_002485.5(NBN):c.321-16T>G | 4683 | NBN | Likely benign | -1 | RCV002663457; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993137 | 90993137 | | | NC_000008.10:g.90993137A>C | - | | |
NM_002485.5(NBN):c.321-17C>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 763878712 | RCV000434657|RCV000679463|RCV001800667; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993138 | 90993138 | | | 8:g.90993138G>C | ClinGen:CA4803000 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.320+40G>T | 4683 | NBN | Likely benign | 749797574 | RCV000988089; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993563 | 90993563 | | | 8:g.90993563C>A | - | | |
NM_002485.5(NBN):c.320+19G>T | 4683 | NBN | Likely benign | 1298984330 | RCV002197550; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993584 | 90993584 | | | 90993584 | - | | |
NM_002485.5(NBN):c.320+16A>G | 4683 | NBN | Likely benign | 1461131932 | RCV002559724; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993587 | 90993587 | | | 8:g.90993587T>C | - | | |
NM_002485.5(NBN):c.320+14A>G | 4683 | NBN | Likely benign | -1 | RCV003067715; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993589 | 90993589 | | | NC_000008.10:g.90993589T>C | - | | |
NC_000008.10:g.(?_90993593)_(90996789_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV002019443; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993593 | 90996789 | | | -1 | - | | |
NM_002485.5(NBN):c.320+8A>G | 4683 | NBN | Likely benign | 1057523296 | RCV000422765|RCV001422551; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993595 | 90993595 | | | 8:g.90993595T>C | ClinGen:CA16605520 | CN169374 not specified; | |
NM_002485.5(NBN):c.320+7C>A | 4683 | NBN | Likely benign | -1 | RCV002823957; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993596 | 90993596 | | | NC_000008.10:g.90993596G>T | - | | |
NM_002485.5(NBN):c.320+7C>T | 4683 | NBN | Likely benign | -1 | RCV002863589; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993596 | 90993596 | | | NC_000008.10:g.90993596G>A | - | | |
NM_002485.5(NBN):c.320+6A>G | 4683 | NBN | Uncertain significance | 757321173 | RCV000543236|RCV000775392; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993597 | 90993597 | | | NC_000008.10:g.90993597T>C | ClinGen:CA4803011 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NC_000008.10:g.(?_90993597)_(90996795_?)dup | 4683 | NBN | Uncertain significance | -1 | RCV000636821; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993597 | 90996795 | | | | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.320+5G>T | 4683 | NBN | Uncertain significance | 1563580422 | RCV000772884|RCV002534039; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993598 | 90993598 | | | NC_000008.10:g.90993598C>A | - | | |
NM_002485.5(NBN):c.320+4A>G | 4683 | NBN | Uncertain significance | -1 | RCV002810428; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993599 | 90993599 | | | NC_000008.10:g.90993599T>C | - | | |
NM_002485.5(NBN):c.320+1G>A | 4683 | NBN | Likely pathogenic | 1364533250 | RCV000564864|RCV001276022; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993602 | 90993602 | | | 8:g.90993602C>T | ClinGen:CA371662236 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.320G>A (p.Arg107Lys) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1345924774 | RCV001019241|RCV001228207; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993603 | 90993603 | | | 8:g.90993603C>T | - | | |
NM_002485.5(NBN):c.317dup (p.Arg107fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 745355767 | RCV000409799|RCV002505995; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065, Orphanet:513; MONDO:MONDO:0009623,Med | 8 | 90993605 | 90993606 | | | NC_000008.10:g.90993607dup | ClinGen:CA4803012 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.318C>G (p.Phe106Leu) | 4683 | NBN | Uncertain significance | 1161413131 | RCV001937888; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993605 | 90993605 | | | 90993605 | - | | |
NM_002485.5(NBN):c.315A>G (p.Lys105=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 13312858 | RCV000567799|RCV000707282; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993608 | 90993608 | | | 8:g.90993608T>C | ClinGen:CA461831423 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.313A>T (p.Lys105Ter) | 4683 | NBN | Likely pathogenic | -1 | RCV002310521; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993610 | 90993610 | | | 90993610 | - | | |
NM_002485.5(NBN):c.311G>C (p.Ser104Thr) | 4683 | NBN | Uncertain significance | 778943002 | RCV001977171|RCV003355718; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993612 | 90993612 | | | 90993612 | - | | |
NM_002485.5(NBN):c.310A>G (p.Ser104Gly) | 4683 | NBN | Uncertain significance | 876658400 | RCV000220892|RCV000803693; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993613 | 90993613 | | | 8:g.90993613T>C | ClinGen:CA10578805 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.309A>T (p.Gly103=) | 4683 | NBN | Likely benign | 2129914059 | RCV001428828|RCV003284320; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993614 | 90993614 | | | 90993614 | - | | |
NM_002485.5(NBN):c.308G>T (p.Gly103Val) | 4683 | NBN | Uncertain significance | 1554568272 | RCV000636762|RCV000985876; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN517202 | 8 | 90993615 | 90993615 | | | 8:g.90993615C>A | ClinGen:CA371662299 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.307G>A (p.Gly103Arg) | 4683 | NBN | Uncertain significance | 2129914127 | RCV001981853; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993616 | 90993616 | | | 90993616 | - | | |
NM_002485.5(NBN):c.307G>T (p.Gly103Ter) | 4683 | NBN | Likely pathogenic | -1 | RCV002307901; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993616 | 90993616 | | | 90993616 | - | | |
NM_002485.5(NBN):c.306del (p.Phe102fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 587781305 | RCV000129019|RCV000478932|RCV000668848|RCV003467101; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993617 | 90993617 | | | 8:g.90993617_90993617del | ClinGen:CA163677 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.306T>C (p.Phe102=) | 4683 | NBN | Likely benign | 1554568276 | RCV000575931|RCV000940896|RCV001355058; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90993617 | 90993617 | | | NC_000008.10:g.90993617A>G | ClinGen:CA461831429 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.304T>C (p.Phe102Leu) | 4683 | NBN | Uncertain significance | 1554568285 | RCV000569484|RCV001193650|RCV001800787; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993619 | 90993619 | | | NC_000008.10:g.90993619A>G | ClinGen:CA371662321 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.303G>T (p.Val101=) | 4683 | NBN | Likely benign | 1554568287 | RCV000564697|RCV001475451; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993620 | 90993620 | | | 8:g.90993620C>A | ClinGen:CA461831432 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.303G>A (p.Val101=) | 4683 | NBN | Likely benign | -1 | RCV002889955; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993620 | 90993620 | | | | - | | |
NM_002485.5(NBN):c.302T>C (p.Val101Ala) | 4683 | NBN | Uncertain significance | 185493105 | RCV000164413|RCV000467071|RCV000679462|RCV003321528|RCV003474859; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90993621 | 90993621 | | | 8:g.90993621A>G | ClinGen:CA190887 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.302T>G (p.Val101Gly) | 4683 | NBN | Uncertain significance | 185493105 | RCV000536492; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993621 | 90993621 | | | NC_000008.10:g.90993621A>C | ClinGen:CA371662326 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.301G>A (p.Val101Met) | 4683 | NBN | Uncertain significance | 786202139 | RCV000164802|RCV000636741|RCV001770126; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90993622 | 90993622 | | | 8:g.90993622C>T | ClinGen:CA191801 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.299G>C (p.Gly100Ala) | 4683 | NBN | Uncertain significance | 2129914264 | RCV001964381; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993624 | 90993624 | | | 90993624 | - | | |
NM_002485.5(NBN):c.298G>T (p.Gly100Ter) | 4683 | NBN | Pathogenic | 2129914287 | RCV001864972|RCV002440930; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993625 | 90993625 | | | 90993625 | - | | |
NM_002485.5(NBN):c.297T>C (p.Phe99=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1563580668 | RCV000772238|RCV001413593|RCV002225725; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145 | 8 | 90993626 | 90993626 | | | NC_000008.10:g.90993626A>G | - | | |
NM_002485.5(NBN):c.296T>A (p.Phe99Tyr) | 4683 | NBN | Uncertain significance | 1187898389 | RCV000574101|RCV000796681; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993627 | 90993627 | | | 8:g.90993627A>T | ClinGen:CA371662351 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.292A>C (p.Thr98Pro) | 4683 | NBN | Uncertain significance | 1060503453 | RCV000475140|RCV002436459; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993631 | 90993631 | | | NC_000008.10:g.90993631T>G | ClinGen:CA16612676 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.291T>G (p.Ile97Met) | 4683 | NBN | Uncertain significance | 1812056882 | RCV001346958; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993632 | 90993632 | | | 90993632 | - | | |
NM_002485.5(NBN):c.290T>C (p.Ile97Thr) | 4683 | NBN | Uncertain significance | 1554568295 | RCV000560465; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993633 | 90993633 | | | 8:g.90993633A>G | ClinGen:CA371662385 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.289A>G (p.Ile97Val) | 4683 | NBN | Conflicting interpretations of pathogenicity | 730881855 | RCV000160793|RCV000636730|RCV002433715; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993634 | 90993634 | | | NC_000008.10:g.90993634T>C | ClinGen:CA299627 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.286G>A (p.Gly96Ser) | 4683 | NBN | Conflicting interpretations of pathogenicity | 730882133 | RCV000161942|RCV000574837|RCV002478492; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90993637 | 90993637 | | | 8:g.90993637C>T | ClinGen:CA333815 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) | 4683 | NBN | Uncertain significance | 545276922 | RCV000130482|RCV000459979|RCV000486308|RCV001193649|RCV003474763; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90993639 | 90993639 | | | 8:g.90993639T>C | ClinGen:CA166516 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) | 4683 | NBN | Conflicting interpretations of pathogenicity | 61753720 | RCV000115792|RCV000121616|RCV000123216|RCV000588621; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90993640 | 90993640 | | | 8:g.90993640C>T | ClinGen:CA160975,UniProtKB:O60934#VAR_025793 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.283G>C (p.Asp95His) | 4683 | NBN | Uncertain significance | 61753720 | RCV000699951|RCV002440502|RCV002509518; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90993640 | 90993640 | | | 8:g.90993640C>G | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.283del (p.Asp95fs) | 4683 | NBN | Pathogenic | 2129914556 | RCV001944907; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993640 | 90993640 | | | 90993639 | - | | |
NM_002485.5(NBN):c.282G>C (p.Gly94=) | 4683 | NBN | Likely benign | 2129914580 | RCV002568796; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993641 | 90993641 | | | 90993641 | - | | |
NM_002485.5(NBN):c.280G>C (p.Gly94Arg) | 4683 | NBN | Uncertain significance | 1563580785 | RCV001035742; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993643 | 90993643 | | | 8:g.90993643C>G | - | | |
NM_002485.5(NBN):c.279G>A (p.Ser93=) | 4683 | NBN | Benign/Likely benign | 587780781 | RCV000123215|RCV000165927|RCV000604024; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90993644 | 90993644 | | | 8:g.90993644C>T | ClinGen:CA194550 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) | 4683 | NBN | Conflicting interpretations of pathogenicity | 12721593 | RCV000131226|RCV000193311|RCV000168344|RCV000586867|RCV001354986; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90993645 | 90993645 | | | 8:g.90993645G>A | ClinGen:CA206703,UniProtKB:O60934#VAR_025792 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.278C>A (p.Ser93Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 12721593 | RCV001884264|RCV003470998; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993645 | 90993645 | | | 90993645 | - | | |
NM_002485.5(NBN):c.275A>G (p.Lys92Arg) | 4683 | NBN | Uncertain significance | 1554568311 | RCV000566890|RCV001853783; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993648 | 90993648 | | | 8:g.90993648T>C | ClinGen:CA371662427 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.273G>A (p.Leu91=) | 4683 | NBN | Likely benign | 1586108624 | RCV000933858; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993650 | 90993650 | | | 8:g.90993650C>T | - | | |
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer) | 4683 | NBN | Pathogenic | 1586108633 | RCV001016416|RCV001057028; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993651 | 90993651 | | | 8:g.90993651_90993651del | - | | |
NM_002485.5(NBN):c.270T>A (p.Thr90=) | 4683 | NBN | Likely benign | 776469548 | RCV000925079|RCV003169326; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993653 | 90993653 | | | 8:g.90993653A>T | - | | |
NM_002485.5(NBN):c.270T>G (p.Thr90=) | 4683 | NBN | Likely benign | 776469548 | RCV001493715; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993653 | 90993653 | | | 90993653 | - | | |
NM_002485.5(NBN):c.269C>T (p.Thr90Ile) | 4683 | NBN | Uncertain significance | 1812059152 | RCV001327075; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993654 | 90993654 | | | 90993654 | - | | |
NM_002485.5(NBN):c.267A>G (p.Arg89=) | 4683 | NBN | Likely benign | 1554568316 | RCV000558967|RCV000773654|RCV001175051; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 8 | 90993656 | 90993656 | | | 8:g.90993656T>C | ClinGen:CA461831457 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.267A>C (p.Arg89=) | 4683 | NBN | Likely benign | 1554568316 | RCV001411848; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993656 | 90993656 | | | 90993656 | - | | |
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) | 4683 | NBN | Conflicting interpretations of pathogenicity | 747315554 | RCV000164059|RCV000473711|RCV000483231|RCV001354099; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90993657 | 90993657 | | | 8:g.90993657C>G | ClinGen:CA189935 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) | 4683 | NBN | Conflicting interpretations of pathogenicity | 747315554 | RCV000204158|RCV000215544|RCV002466468; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90993657 | 90993657 | | | 8:g.90993657C>T | ClinGen:CA348406 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1057516320 | RCV000410234|RCV001176293|RCV001782863|RCV002504201|RCV003168586|RCV003470325; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MON | 8 | 90993658 | 90993658 | | | 8:g.90993658G>A | ClinGen:CA16041212 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.264C>T (p.Ser88=) | 4683 | NBN | Likely benign | 2129914967 | RCV002164353|RCV002454553; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993659 | 90993659 | | | 90993659 | - | | |
NM_002485.5(NBN):c.263C>T (p.Ser88Phe) | 4683 | NBN | Uncertain significance | 1812059810 | RCV001187415|RCV001862951; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993660 | 90993660 | | | 8:g.90993660G>A | - | | |
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) | 4683 | NBN | Uncertain significance | 786203573 | RCV000166951|RCV000475158|RCV001280994|RCV003468795; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C00 | 8 | 90993663 | 90993663 | | | 8:g.90993663A>G | ClinGen:CA197121 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.256G>C (p.Gly86Arg) | 4683 | NBN | Uncertain significance | 2129915101 | RCV001916561; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993667 | 90993667 | | | 90993667 | - | | |
NM_002485.5(NBN):c.254A>G (p.Asn85Ser) | 4683 | NBN | Conflicting interpretations of pathogenicity | 587780095 | RCV000115791|RCV000214236|RCV000231493|RCV001800403; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90993669 | 90993669 | | | 8:g.90993669T>C | ClinGen:CA287928 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.251A>G (p.Gln84Arg) | 4683 | NBN | Uncertain significance | 762702597 | RCV000580048|RCV001800798; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993672 | 90993672 | | | NC_000008.10:g.90993672T>C | ClinGen:CA4803015 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.250C>T (p.Gln84Ter) | 4683 | NBN | Pathogenic | 1586108714 | RCV000804317|RCV003166237; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 | 8 | 90993673 | 90993673 | | | 8:g.90993673G>A | - | | |
NM_002485.5(NBN):c.250C>A (p.Gln84Lys) | 4683 | NBN | Uncertain significance | 1586108714 | RCV001175414|RCV001239604|RCV002436731; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993673 | 90993673 | | | 8:g.90993673G>T | - | | |
NM_002485.5(NBN):c.249G>A (p.Met83Ile) | 4683 | NBN | Uncertain significance | 1438838735 | RCV000566420|RCV000806996|RCV001770504; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90993674 | 90993674 | | | 8:g.90993674C>T | ClinGen:CA371662482 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.248T>A (p.Met83Lys) | 4683 | NBN | Uncertain significance | 940160589 | RCV000574610|RCV001065058; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993675 | 90993675 | | | 8:g.90993675A>T | ClinGen:CA181280587 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.247dup (p.Met83fs) | 4683 | NBN | Pathogenic | -1 | RCV003054032; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993675 | 90993676 | | | NC_000008.10:g.90993681dup | - | | |
NM_002485.5(NBN):c.247A>G (p.Met83Val) | 4683 | NBN | Uncertain significance | 955258267 | RCV000561949|RCV001064087|RCV001284194|RCV003465202; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993676 | 90993676 | | | NC_000008.10:g.90993676T>C | ClinGen:CA371662485 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.247A>T (p.Met83Leu) | 4683 | NBN | Uncertain significance | 955258267 | RCV000570692|RCV000636702|RCV003322792|RCV003465240; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993676 | 90993676 | | | NC_000008.10:g.90993676T>A | ClinGen:CA181280588 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.244A>G (p.Lys82Glu) | 4683 | NBN | Uncertain significance | 193921030 | RCV000149134|RCV000667547; | N | Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:1331|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993679 | 90993679 | | | NC_000008.10:g.90993679T>C | ClinGen:CA174421 | C0376358 176807 Malignant tumor of prostate; | |
NM_002485.5(NBN):c.243A>G (p.Glu81=) | 4683 | NBN | Likely benign | 786203921 | RCV000167436|RCV002053994; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993680 | 90993680 | | | 8:g.90993680T>C | ClinGen:CA198306 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.242A>G (p.Glu81Gly) | 4683 | NBN | Uncertain significance | 786202085 | RCV000164724|RCV001850303; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993681 | 90993681 | | | 8:g.90993681T>C | ClinGen:CA191642 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.242A>T (p.Glu81Val) | 4683 | NBN | Uncertain significance | 786202085 | RCV001878678; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993681 | 90993681 | | | 90993681 | - | | |
NM_002485.5(NBN):c.241G>C (p.Glu81Gln) | 4683 | NBN | Uncertain significance | 1064795037 | RCV000774907|RCV001045961; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993682 | 90993682 | | | NC_000008.10:g.90993682C>G | - | | |
NM_002485.5(NBN):c.241G>T (p.Glu81Ter) | 4683 | NBN | Pathogenic | 1064795037 | RCV000794512; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993682 | 90993682 | | | 8:g.90993682C>A | - | | |
NM_002485.5(NBN):c.240G>A (p.Glu80=) | 4683 | NBN | Likely benign | 2129915401 | RCV001475820; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993683 | 90993683 | | | 90993683 | - | | |
NM_002485.5(NBN):c.235A>G (p.Asn79Asp) | 4683 | NBN | Conflicting interpretations of pathogenicity | 786202749 | RCV000165721|RCV000812346|RCV003153447; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500 | 8 | 90993688 | 90993688 | | | 8:g.90993688T>C | ClinGen:CA194070 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.235A>C (p.Asn79His) | 4683 | NBN | Uncertain significance | 786202749 | RCV000478498|RCV000636765|RCV001015283; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993688 | 90993688 | | | 8:g.90993688T>G | ClinGen:CA16618713 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.234T>C (p.Val78=) | 4683 | NBN | Likely benign | -1 | RCV003011245; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993689 | 90993689 | | | | - | | |
NM_002485.5(NBN):c.231dup (p.Val78fs) | 4683 | NBN | Pathogenic | 1586108827 | RCV000799598; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993691 | 90993692 | | | 8:g.90993691_90993692insA | - | | |
NM_002485.5(NBN):c.228_231dup (p.Val78fs) | 4683 | NBN | Pathogenic | 2129915522 | RCV001389521|RCV002449079; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993691 | 90993692 | | | 90993691 | - | | |
NM_002485.5(NBN):c.231T>A (p.Phe77Leu) | 4683 | NBN | Uncertain significance | 1554568336 | RCV000568222|RCV001755948|RCV001800786; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993692 | 90993692 | | | 8:g.90993692A>T | ClinGen:CA371662521 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.228C>T (p.Thr76=) | 4683 | NBN | Likely benign | 1586108833 | RCV001423431|RCV002445087; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993695 | 90993695 | | | 8:g.90993695G>A | - | | |
NM_002485.5(NBN):c.227C>A (p.Thr76Asn) | 4683 | NBN | Uncertain significance | 587781412 | RCV000129274|RCV000200027|RCV000212727|RCV003474744; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993696 | 90993696 | | | 8:g.90993696G>T | ClinGen:CA294017 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.227C>T (p.Thr76Ile) | 4683 | NBN | Uncertain significance | 587781412 | RCV000478706|RCV000573181|RCV000636706; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993696 | 90993696 | | | 8:g.90993696G>A | ClinGen:CA16618714 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.226dup (p.Thr76fs) | 4683 | NBN | Pathogenic | 1554568340 | RCV000546587; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993696 | 90993697 | | | 8:g.90993696_90993697insT | ClinGen:CA658657792 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.225T>C (p.Gly75=) | 4683 | NBN | Likely benign | -1 | RCV002443721|RCV003098759; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993698 | 90993698 | | | | - | | |
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) | 4683 | NBN | Uncertain significance | 587782179 | RCV000130798|RCV000197450|RCV000213490|RCV001193077|RCV003474770; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90993699 | 90993699 | | | 8:g.90993699C>G | ClinGen:CA167130 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.222T>G (p.Tyr74Ter) | 4683 | NBN | Pathogenic | 1563581193 | RCV000696443; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993701 | 90993701 | | | 8:g.90993701A>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.222T>C (p.Tyr74=) | 4683 | NBN | Likely benign | 1563581193 | RCV000875675|RCV001180440; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993701 | 90993701 | | | 8:g.90993701A>G | - | | |
NM_002485.5(NBN):c.221A>G (p.Tyr74Cys) | 4683 | NBN | Uncertain significance | 1060503471 | RCV000457973; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993702 | 90993702 | | | NC_000008.10:g.90993702T>C | ClinGen:CA16612555 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.220T>C (p.Tyr74His) | 4683 | NBN | Uncertain significance | 587780094 | RCV000115790|RCV000219762|RCV000229027|RCV001193075|RCV002477281|RCV003467060; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:000191 | 8 | 90993703 | 90993703 | | | 8:g.90993703A>G | ClinGen:CA287925 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.219G>A (p.Lys73=) | 4683 | NBN | Likely benign | 1586108899 | RCV001406043; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993704 | 90993704 | | | 8:g.90993704C>T | - | | |
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554568348 | RCV000668995; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993706 | 90993707 | | | 8:g.90993706_90993707insAA | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.217A>T (p.Lys73Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 2129915767 | RCV002568061|RCV003470849; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993706 | 90993706 | | | 90993706 | - | | |
NM_002485.5(NBN):c.214_216del (p.Ser72del) | 4683 | NBN | Uncertain significance | -1 | RCV002870773; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993707 | 90993709 | | | NC_000008.10:g.90993708_90993710del | - | | |
NM_002485.5(NBN):c.215C>T (p.Ser72Phe) | 4683 | NBN | Uncertain significance | 1060503484 | RCV000462437|RCV000572489; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993708 | 90993708 | | | NC_000008.10:g.90993708G>A | ClinGen:CA16612677 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.212_215del (p.Asn71fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1064795634 | RCV000478442|RCV000688577; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993708 | 90993711 | | | 8:g.90993708_90993711del | ClinGen:CA16618715 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.214_215insGGAACCGCTCGGGGCAGC (p.Ser72delinsTrpAsnArgSerGlyGlnPro) | 4683 | NBN | Uncertain significance | 1554568352 | RCV000674860; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993708 | 90993709 | | | 8:g.90993708_90993709insGCTGCCCCGAGCGGTTCC | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 762664474 | RCV000200419|RCV001014466|RCV002503780|RCV003474955; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:00 | 8 | 90993711 | 90993712 | | | 8:g.90993711_90993712insTC | ClinGen:CA339301 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.210_211dup (p.Asn71fs) | 4683 | NBN | Pathogenic | 786202494 | RCV001950828; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993711 | 90993712 | | | 90993711 | - | | |
NM_002485.5(NBN):c.205_212del (p.Lys69fs) | 4683 | NBN | Pathogenic | 2129915884 | RCV001884586; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993711 | 90993718 | | | 90993710 | - | | |
NM_002485.5(NBN):c.212A>C (p.Asn71Thr) | 4683 | NBN | Uncertain significance | -1 | RCV002801516; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993711 | 90993711 | | | NC_000008.10:g.90993711T>G | - | | |
NM_002485.5(NBN):c.212A>G (p.Asn71Ser) | 4683 | NBN | Uncertain significance | -1 | RCV003048555; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993711 | 90993711 | | | NC_000008.10:g.90993711T>C | - | | |
NM_002485.5(NBN):c.210_211del (p.Asp70fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 786202494 | RCV000165335|RCV000457752|RCV000679458; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90993712 | 90993713 | | | 8:g.90993712_90993713del | ClinGen:CA193122 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.210T>G (p.Asp70Glu) | 4683 | NBN | Uncertain significance | 1554568357 | RCV000575857|RCV001800772; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993713 | 90993713 | | | NC_000008.10:g.90993713A>C | ClinGen:CA371662564 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.210T>C (p.Asp70=) | 4683 | NBN | Likely benign | -1 | RCV002706627; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993713 | 90993713 | | | | - | | |
NM_002485.5(NBN):c.209A>G (p.Asp70Gly) | 4683 | NBN | Uncertain significance | 1586108952 | RCV000802204|RCV003307467; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993714 | 90993714 | | | 8:g.90993714T>C | - | | |
NM_002485.5(NBN):c.208_209insTA (p.Asp70fs) | 4683 | NBN | Pathogenic | 2129915990 | RCV001951046; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993714 | 90993715 | | | 90993714 | - | | |
NM_002485.5(NBN):c.208G>A (p.Asp70Asn) | 4683 | NBN | Uncertain significance | 560337591 | RCV000815138|RCV002256540; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993715 | 90993715 | | | 8:g.90993715C>T | - | | |
NM_002485.5(NBN):c.207A>G (p.Lys69=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 754352569 | RCV000507040|RCV000808156; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993716 | 90993716 | | | NC_000008.10:g.90993716T>C | ClinGen:CA4803020 | CN517202 not provided; | |
NM_002485.5(NBN):c.204A>T (p.Leu68Phe) | 4683 | NBN | Uncertain significance | 786201800 | RCV000164274|RCV001850292; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993719 | 90993719 | | | 8:g.90993719T>A | ClinGen:CA190510 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.204A>G (p.Leu68=) | 4683 | NBN | Likely benign | 786201800 | RCV001185835|RCV002068423; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993719 | 90993719 | | | 8:g.90993719T>C | - | | |
NM_002485.5(NBN):c.202T>G (p.Leu68Val) | 4683 | NBN | Uncertain significance | 1200599843 | RCV000544879|RCV003470738; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993721 | 90993721 | | | 8:g.90993721A>C | ClinGen:CA371662582 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.200C>T (p.Thr67Ile) | 4683 | NBN | Uncertain significance | 1015793589 | RCV000813374|RCV002422804; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993723 | 90993723 | | | 8:g.90993723G>A | - | | |
NM_002485.5(NBN):c.199A>G (p.Thr67Ala) | 4683 | NBN | Uncertain significance | 876660922 | RCV000220748|RCV000636750; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993724 | 90993724 | | | 8:g.90993724T>C | ClinGen:CA10578807 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.198G>A (p.Leu66=) | 4683 | NBN | Likely benign | 757735005 | RCV001013967|RCV001426741; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993725 | 90993725 | | | 8:g.90993725C>T | - | | |
NM_002485.5(NBN):c.197T>G (p.Leu66Trp) | 4683 | NBN | Uncertain significance | 1812065476 | RCV001047145; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993726 | 90993726 | | | 8:g.90993726A>C | - | | |
NM_002485.5(NBN):c.195A>G (p.Val65=) | 4683 | NBN | Likely benign | 1385971118 | RCV000561679|RCV001448150; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993728 | 90993728 | | | 8:g.90993728T>C | ClinGen:CA461831495 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.194T>A (p.Val65Glu) | 4683 | NBN | Uncertain significance | 1563581457 | RCV000700707|RCV002422565|RCV003465614; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993729 | 90993729 | | | 8:g.90993729A>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.193G>A (p.Val65Ile) | 4683 | NBN | Conflicting interpretations of pathogenicity | 778998026 | RCV000565097|RCV001039847; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993730 | 90993730 | | | NC_000008.10:g.90993730C>T | ClinGen:CA4803022 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.193G>T (p.Val65Leu) | 4683 | NBN | Uncertain significance | 778998026 | RCV001322027; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993730 | 90993730 | | | 90993730 | - | | |
NM_002485.5(NBN):c.192T>C (p.Pro64=) | 4683 | NBN | Likely benign | 1554568378 | RCV000874884; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993731 | 90993731 | | | 8:g.90993731A>G | - | | |
NM_002485.5(NBN):c.191C>G (p.Pro64Arg) | 4683 | NBN | Uncertain significance | 1563581492 | RCV000688507|RCV001805805; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993732 | 90993732 | | | NC_000008.10:g.90993732G>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.191C>T (p.Pro64Leu) | 4683 | NBN | Uncertain significance | 1563581492 | RCV000772229|RCV001217448; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993732 | 90993732 | | | NC_000008.10:g.90993732G>A | - | | |
NM_002485.5(NBN):c.190C>T (p.Pro64Ser) | 4683 | NBN | Uncertain significance | 267602038 | RCV000670697|RCV001013653; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993733 | 90993733 | | | 8:g.90993733G>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.190C>G (p.Pro64Ala) | 4683 | NBN | Uncertain significance | 267602038 | RCV001901893; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993733 | 90993733 | | | 90993733 | - | | |
NM_002485.5(NBN):c.189C>A (p.Ile63=) | 4683 | NBN | Likely benign | 1554568383 | RCV000526790; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993734 | 90993734 | | | NC_000008.10:g.90993734G>T | ClinGen:CA461831501 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.189C>T (p.Ile63=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554568383 | RCV001284191|RCV001426679|RCV001524765; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90993734 | 90993734 | | | 90993734 | - | | |
NM_002485.5(NBN):c.188del (p.Ile63fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 876659592 | RCV000221586|RCV000636697|RCV000657396|RCV001270988|RCV003475023; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN221562|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90993735 | 90993735 | | | 8:g.90993735_90993735del | ClinGen:CA10578808 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.188T>A (p.Ile63Asn) | 4683 | NBN | Uncertain significance | 961554359 | RCV000698049|RCV000772344|RCV003460952; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993735 | 90993735 | | | NC_000008.10:g.90993735A>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.186A>C (p.Glu62Asp) | 4683 | NBN | Uncertain significance | 1586109110 | RCV000821079; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993737 | 90993737 | | | 8:g.90993737T>G | - | | |
NM_002485.5(NBN):c.185A>T (p.Glu62Val) | 4683 | NBN | Uncertain significance | 1812067152 | RCV002407030|RCV001911600; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993738 | 90993738 | | | 90993738 | - | | |
NM_002485.5(NBN):c.183del (p.Asp61fs) | 4683 | NBN | Pathogenic | 587782147 | RCV000130711|RCV002514735; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993740 | 90993740 | | | NC_000008.10:g.90993740del | ClinGen:CA166956 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.183T>C (p.Asp61=) | 4683 | NBN | Likely benign | 2129916430 | RCV001432396; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993740 | 90993740 | | | 90993740 | - | | |
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) | 4683 | NBN | Pathogenic/Likely pathogenic | 768378152 | RCV000166151|RCV000672694|RCV003468774; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90993741 | 90993742 | | | 8:g.90993741_90993742del | ClinGen:CA195119 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.182A>G (p.Asp61Gly) | 4683 | NBN | Uncertain significance | 1460282206 | RCV000772939|RCV001056239; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993741 | 90993741 | | | NC_000008.10:g.90993741T>C | - | | |
NM_002485.5(NBN):c.181G>C (p.Asp61His) | 4683 | NBN | Uncertain significance | -1 | RCV002735152; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993742 | 90993742 | | | NC_000008.10:g.90993742C>G | - | | |
NM_002485.5(NBN):c.177_180del (p.Thr60fs) | 4683 | NBN | Pathogenic | -1 | RCV003003170; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993743 | 90993746 | | | NC_000008.10:g.90993745_90993748del | - | | |
NM_002485.5(NBN):c.178dup (p.Thr60fs) | 4683 | NBN | Likely pathogenic | 1057516392 | RCV000412330; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993744 | 90993745 | | | NC_000008.10:g.90993747dup | ClinGen:CA16041213 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.177A>G (p.Gln59=) | 4683 | NBN | Likely benign | 758457183 | RCV001437350; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993746 | 90993746 | | | 90993746 | - | | |
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554568427 | RCV000586448|RCV000688264|RCV001013002|RCV003471944|RCV003133388; | N | MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0 | 8 | 90993748 | 90993748 | | | NC_000008.10:g.90993748G>A | ClinGen:CA371662638 | C0677776 Hereditary breast and ovarian cancer syndrome; | |
NM_002485.5(NBN):c.175C>G (p.Gln59Glu) | 4683 | NBN | Uncertain significance | 1554568427 | RCV001911649|RCV002511110; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90993748 | 90993748 | | | 90993748 | - | | |
NM_002485.5(NBN):c.172-1G>T | 4683 | NBN | Likely pathogenic | 1391598284 | RCV001378799; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993752 | 90993752 | | | 90993752 | - | | |
NM_002485.5(NBN):c.172-1G>A | 4683 | NBN | Likely pathogenic | 1391598284 | RCV002048065; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993752 | 90993752 | | | 90993752 | - | | |
NM_002485.5(NBN):c.172-2A>T | 4683 | NBN | Likely pathogenic | 2129916685 | RCV001961761; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993753 | 90993753 | | | 90993753 | - | | |
NM_002485.5(NBN):c.172-3C>T | 4683 | NBN | Conflicting interpretations of pathogenicity | 587781620 | RCV000129710|RCV000330677|RCV000832940; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90993754 | 90993754 | | | 8:g.90993754G>A | ClinGen:CA164959 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.172-3C>G | 4683 | NBN | Uncertain significance | 587781620 | RCV001964330; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993754 | 90993754 | | | 90993754 | - | | |
NM_002485.5(NBN):c.172-5_172-4del | 4683 | NBN | Uncertain significance | -1 | RCV002881024; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993755 | 90993756 | | | NC_000008.10:g.90993757_90993758del | - | | |
NM_002485.5(NBN):c.172-8C>G | 4683 | NBN | Uncertain significance | 1335357045 | RCV000809715; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993759 | 90993759 | | | 8:g.90993759G>C | - | | |
NM_002485.5(NBN):c.172-8C>A | 4683 | NBN | Likely benign | 1335357045 | RCV001497851; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993759 | 90993759 | | | 90993759 | - | | |
NM_002485.5(NBN):c.172-12C>G | 4683 | NBN | Likely benign | 1363297893 | RCV001869077; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993763 | 90993763 | | | NC_000008.10:g.90993763G>C | - | | |
NM_002485.5(NBN):c.172-16T>C | 4683 | NBN | Likely benign | 2129916835 | RCV002081845; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993767 | 90993767 | | | 90993767 | - | | |
NM_002485.5(NBN):c.172-17A>G | 4683 | NBN | Likely benign | 368471581 | RCV002154265; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993768 | 90993768 | | | 90993768 | - | | |
NM_002485.5(NBN):c.172-17del | 4683 | NBN | Likely benign | -1 | RCV002615250; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993768 | 90993768 | | | NC_000008.10:g.90993768del | - | | |
NM_002485.5(NBN):c.172-19T>A | 4683 | NBN | Likely benign | 2129916862 | RCV002101117; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993770 | 90993770 | | | 90993770 | - | | |
NM_002485.5(NBN):c.172-28_172-20del | 4683 | NBN | Likely benign | 774151023 | RCV002536699; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90993771 | 90993779 | | | NC_000008.10:g.90993774_90993782del | - | | |
NM_002485.5(NBN):c.172-529G>A | 4683 | NBN | Likely benign | 104895039 | RCV000114883|RCV000672224; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994280 | 90994280 | | | 8:g.90994280C>T | ClinGen:CA230740 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.171+19T>C | 4683 | NBN | Likely benign | -1 | RCV002637699; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994931 | 90994931 | | | NC_000008.10:g.90994931A>G | - | | |
NM_002485.5(NBN):c.171+12A>G | 4683 | NBN | Likely benign | 922134221 | RCV000443198|RCV001861550; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994938 | 90994938 | | | 8:g.90994938T>C | ClinGen:CA16605273 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.171+11A>C | 4683 | NBN | Likely benign | -1 | RCV002991767; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994939 | 90994939 | | | NC_000008.10:g.90994939T>G | - | | |
NM_002485.5(NBN):c.171+9C>T | 4683 | NBN | Likely benign | 1057522123 | RCV000445325|RCV001394158; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994941 | 90994941 | | | 8:g.90994941G>A | ClinGen:CA16606150 | CN169374 not specified; | |
NM_002485.5(NBN):c.171+8dup | 4683 | NBN | Likely benign | 2129923970 | RCV002094827; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994941 | 90994942 | | | 90994941 | - | | |
NM_002485.5(NBN):c.171+4T>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 587782290 | RCV000131170|RCV000205676|RCV000590607; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90994946 | 90994946 | | | 8:g.90994946A>G | ClinGen:CA167713 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.171+4T>A | 4683 | NBN | Uncertain significance | 587782290 | RCV001875258|RCV002397843; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90994946 | 90994946 | | | 90994946 | - | | |
NM_002485.5(NBN):c.163_171+3del | 4683 | NBN | Pathogenic/Likely pathogenic | 1057516772 | RCV000409755|RCV000566032|RCV003475956; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90994947 | 90994958 | | | NC_000008.10:g.90994950_90994961del | ClinGen:CA16041214 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.171+3A>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 1487002693 | RCV000580790|RCV001229330|RCV003459435; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90994947 | 90994947 | | | 8:g.90994947T>C | ClinGen:CA658683518 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.171+1G>A | 4683 | NBN | Likely pathogenic | 931715719 | RCV000409002|RCV000759169|RCV001012839|RCV003475941; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90994949 | 90994949 | | | 8:g.90994949C>T | ClinGen:CA16041215 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.171+1G>T | 4683 | NBN | Likely pathogenic | 931715719 | RCV002034356; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994949 | 90994949 | | | 90994949 | - | | |
NM_002485.5(NBN):c.171+1G>C | 4683 | NBN | Likely pathogenic | 931715719 | RCV002034449; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994949 | 90994949 | | | 90994949 | - | | |
NM_002485.5(NBN):c.171G>T (p.Leu57=) | 4683 | NBN | Uncertain significance | 1554569001 | RCV000571574|RCV001835852|RCV003114686|RCV003225090; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MedGen:C3661900 | 8 | 90994950 | 90994950 | | | NC_000008.10:g.90994950C>A | ClinGen:CA461831509 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.170T>C (p.Leu57Pro) | 4683 | NBN | Uncertain significance | 747920256 | RCV000583436|RCV000636739; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994951 | 90994951 | | | 8:g.90994951A>G | ClinGen:CA4803045 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.169C>T (p.Leu57=) | 4683 | NBN | Likely benign | 1586111504 | RCV000981574|RCV002400151; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90994952 | 90994952 | | | 8:g.90994952G>A | - | | |
NM_002485.5(NBN):c.168C>T (p.Asn56=) | 4683 | NBN | Likely benign | 1586111516 | RCV001012740|RCV001480215; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994953 | 90994953 | | | 8:g.90994953G>A | - | | |
NM_002485.5(NBN):c.168C>A (p.Asn56Lys) | 4683 | NBN | Uncertain significance | 1586111516 | RCV002049647; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994953 | 90994953 | | | 90994953 | - | | |
NM_002485.5(NBN):c.167A>G (p.Asn56Ser) | 4683 | NBN | Uncertain significance | 1554569009 | RCV000636725|RCV002248838; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90994954 | 90994954 | | | 8:g.90994954T>C | ClinGen:CA371662880 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.165C>T (p.Thr55=) | 4683 | NBN | Likely benign | 1812127469 | RCV002169393; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994956 | 90994956 | | | 90994956 | - | | |
NM_002485.5(NBN):c.164C>G (p.Thr55Ser) | 4683 | NBN | Uncertain significance | 1812127566 | RCV001036960; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994957 | 90994957 | | | 8:g.90994957G>C | - | | |
NM_002485.5(NBN):c.161T>C (p.Val54Ala) | 4683 | NBN | Uncertain significance | 769700749 | RCV001306333; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994960 | 90994960 | | | 90994960 | - | | |
NM_002485.5(NBN):c.158C>G (p.Ser53Cys) | 4683 | NBN | Uncertain significance | 876660243 | RCV001763973|RCV001885048; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994963 | 90994963 | | | 90994963 | - | | |
NM_002485.5(NBN):c.156_157del (p.Ser53fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 767454740 | RCV000410370|RCV000502852|RCV000584632|RCV000587195|RCV000484600|RCV002252110|RCV002502428|RCV003470344; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065, Orphanet:513|MONDO:MONDO:0015356,MeS | 8 | 90994964 | 90994965 | | | NC_000008.10:g.90994966_90994967del | ClinGen:CA4803047 | C0023449 613065 Acute lymphoid leukemia; | |
NM_002485.5(NBN):c.157del (p.Ser53fs) | 4683 | NBN | Pathogenic | 767454740 | RCV001383919; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994964 | 90994964 | | | 90994963 | - | | |
NM_002485.5(NBN):c.156T>C (p.Phe52=) | 4683 | NBN | Likely benign | 777925415 | RCV000216110|RCV001473857; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994965 | 90994965 | | | 8:g.90994965A>G | ClinGen:CA4803048 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.153C>A (p.Asn51Lys) | 4683 | NBN | Uncertain significance | 876661214 | RCV000222963|RCV001854751; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994968 | 90994968 | | | 8:g.90994968G>T | ClinGen:CA10577370 | CN169374 not specified; | |
NM_002485.5(NBN):c.151A>G (p.Asn51Asp) | 4683 | NBN | Uncertain significance | -1 | RCV003003224; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994970 | 90994970 | | | NC_000008.10:g.90994970T>C | - | | |
NM_002485.5(NBN):c.150T>C (p.Ala50=) | 4683 | NBN | Likely benign | 1586111590 | RCV001472886; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994971 | 90994971 | | | 8:g.90994971A>G | - | | |
NM_002485.5(NBN):c.149C>T (p.Ala50Val) | 4683 | NBN | Uncertain significance | 1554569035 | RCV000636752|RCV001011910; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90994972 | 90994972 | | | NC_000008.10:g.90994972G>A | ClinGen:CA371662979 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.147T>G (p.Thr49=) | 4683 | NBN | Likely benign | 749206453 | RCV000217357|RCV001445822; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994974 | 90994974 | | | 8:g.90994974A>C | ClinGen:CA10578810 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.147T>A (p.Thr49=) | 4683 | NBN | Likely benign | 749206453 | RCV001927881|RCV002388809; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90994974 | 90994974 | | | 90994974 | - | | |
NM_002485.5(NBN):c.146C>T (p.Thr49Ile) | 4683 | NBN | Uncertain significance | 1450189149 | RCV001863627; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994975 | 90994975 | | | 90994975 | - | | |
NM_002485.5(NBN):c.144_145del (p.Leu48fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002308406; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994976 | 90994977 | | | 90994975 | - | | |
NM_002485.5(NBN):c.144A>G (p.Leu48=) | 4683 | NBN | Likely benign | 1563584056 | RCV001405150; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994977 | 90994977 | | | 8:g.90994977T>C | - | | |
NM_002485.5(NBN):c.143T>G (p.Leu48Ter) | 4683 | NBN | Pathogenic | 2129924518 | RCV001959178; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994978 | 90994978 | | | 90994978 | - | | |
NM_002485.5(NBN):c.141_142del (p.Leu48fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 750375741 | RCV000657304|RCV000685564|RCV000775394|RCV003465426; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90994979 | 90994980 | | | 8:g.90994979_90994980del | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.141G>C (p.Val47=) | 4683 | NBN | Likely benign | 2129924554 | RCV001492128; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994980 | 90994980 | | | 90994980 | - | | |
NM_002485.5(NBN):c.139G>C (p.Val47Leu) | 4683 | NBN | Uncertain significance | 876658446 | RCV001373822; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994982 | 90994982 | | | 90994982 | - | | |
NM_002485.5(NBN):c.136G>C (p.Ala46Pro) | 4683 | NBN | Uncertain significance | 1812129847 | RCV001929450|RCV002386748; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90994985 | 90994985 | | | 90994985 | - | | |
NM_002485.5(NBN):c.105_135del (p.Ile35fs) | 4683 | NBN | Conflicting interpretations of pathogenicity | 730881840 | RCV000160767|RCV000664795|RCV001180837|RCV003467258; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90994986 | 90995016 | | | NC_000008.10:g.90994988_90995018del | ClinGen:CA299575 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.135T>C (p.His45=) | 4683 | NBN | Likely benign | 770618624 | RCV000582688|RCV000936992; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994986 | 90994986 | | | 8:g.90994986A>G | ClinGen:CA4803051 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.135T>A (p.His45Gln) | 4683 | NBN | Uncertain significance | 770618624 | RCV001901292|RCV002482751; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,Med | 8 | 90994986 | 90994986 | | | 90994986 | - | | |
NM_002485.5(NBN):c.134A>G (p.His45Arg) | 4683 | NBN | Uncertain significance | 1554569059 | RCV000540420; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994987 | 90994987 | | | NC_000008.10:g.90994987T>C | ClinGen:CA371663027 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.133C>G (p.His45Asp) | 4683 | NBN | Uncertain significance | 773865323 | RCV000527832|RCV000777185; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90994988 | 90994988 | | | 8:g.90994988G>C | ClinGen:CA371663033 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.133C>T (p.His45Tyr) | 4683 | NBN | Uncertain significance | 773865323 | RCV003101425|RCV002259247; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90994988 | 90994988 | | | 90994988 | - | | |
NM_002485.5(NBN):c.129A>G (p.Arg43=) | 4683 | NBN | Likely benign | 1327270687 | RCV001010591|RCV001476703; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994992 | 90994992 | | | 8:g.90994992T>C | - | | |
NM_002485.5(NBN):c.129A>C (p.Arg43=) | 4683 | NBN | Likely benign | 1327270687 | RCV002135182; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994992 | 90994992 | | | 90994992 | - | | |
NM_002485.5(NBN):c.128G>A (p.Arg43Gln) | 4683 | NBN | Uncertain significance | 759146120 | RCV000567458|RCV001304163; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994993 | 90994993 | | | 8:g.90994993C>T | ClinGen:CA4803053 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.128G>T (p.Arg43Leu) | 4683 | NBN | Uncertain significance | 759146120 | RCV001235839; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994993 | 90994993 | | | 8:g.90994993C>A | - | | |
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) | 4683 | NBN | Conflicting interpretations of pathogenicity | 200287925 | RCV000131193|RCV000409406|RCV000489509|RCV003162586|RCV003467167; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Human Phenotyp | 8 | 90994994 | 90994994 | | | 8:g.90994994G>A | ClinGen:CA167743 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.126C>T (p.Ser42=) | 4683 | NBN | Likely benign | 2129924815 | RCV002175721; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994995 | 90994995 | | | 90994995 | - | | |
NM_002485.5(NBN):c.123del (p.Ser42fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 587781891 | RCV000130227|RCV000466522|RCV000482320|RCV003460916; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90994998 | 90994998 | | | 8:g.90994998_90994998del | ClinGen:CA165984 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.123C>A (p.Ile41=) | 4683 | NBN | Likely benign | 887413615 | RCV000473919|RCV000575897; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90994998 | 90994998 | | | NC_000008.10:g.90994998G>T | ClinGen:CA16612385 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.123C>T (p.Ile41=) | 4683 | NBN | Likely benign | 887413615 | RCV001010514|RCV001392666; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994998 | 90994998 | | | 8:g.90994998G>A | - | | |
NM_002485.5(NBN):c.123C>G (p.Ile41Met) | 4683 | NBN | Uncertain significance | 887413615 | RCV001976614; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994998 | 90994998 | | | 90994998 | - | | |
NM_002485.5(NBN):c.122T>C (p.Ile41Thr) | 4683 | NBN | Uncertain significance | 1554569074 | RCV001231264; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90994999 | 90994999 | | | 8:g.90994999A>G | - | | |
NM_002485.5(NBN):c.121A>T (p.Ile41Phe) | 4683 | NBN | Uncertain significance | 1563584220 | RCV001856077; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995000 | 90995000 | | | NC_000008.10:g.90995000T>A | - | | |
NM_002485.5(NBN):c.121A>G (p.Ile41Val) | 4683 | NBN | Uncertain significance | 1563584220 | RCV001057800|RCV001182851; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995000 | 90995000 | | | 8:g.90995000T>C | - | | |
NM_002485.5(NBN):c.120G>T (p.Ser40=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 774989816 | RCV000163710|RCV000733019|RCV000988090; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995001 | 90995001 | | | 8:g.90995001C>A | ClinGen:CA189008 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.120G>C (p.Ser40=) | 4683 | NBN | Likely benign | 774989816 | RCV000213273|RCV001417259; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995001 | 90995001 | | | 8:g.90995001C>G | ClinGen:CA10578812 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.120G>A (p.Ser40=) | 4683 | NBN | Likely benign | 774989816 | RCV000555139|RCV000607697|RCV001010351; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995001 | 90995001 | | | NC_000008.10:g.90995001C>T | ClinGen:CA461831543 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) | 4683 | NBN | Uncertain significance | 587781530 | RCV000129524|RCV000232275|RCV000586924|RCV000764791|RCV003467110; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotyp | 8 | 90995002 | 90995002 | | | 8:g.90995002G>A | ClinGen:CA164600 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.116A>T (p.Gln39Leu) | 4683 | NBN | Uncertain significance | 765551184 | RCV001059176|RCV002327330; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995005 | 90995005 | | | 8:g.90995005T>A | - | | |
NM_002485.5(NBN):c.116A>G (p.Gln39Arg) | 4683 | NBN | Uncertain significance | -1 | RCV002632077|RCV003167543|RCV003317617; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90995005 | 90995005 | | | NC_000008.10:g.90995005T>C | - | | |
NM_002485.5(NBN):c.115C>G (p.Gln39Glu) | 4683 | NBN | Uncertain significance | 377730553 | RCV000129719|RCV000820955; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995006 | 90995006 | | | 8:g.90995006G>C | ClinGen:CA164970 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.115del (p.Gln39fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 864622511 | RCV000204010|RCV003474983; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90995006 | 90995006 | | | 8:g.90995006_90995006del | ClinGen:CA348289 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.115C>A (p.Gln39Lys) | 4683 | NBN | Uncertain significance | 377730553 | RCV000636775|RCV001010019|RCV003465396; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90995006 | 90995006 | | | 8:g.90995006G>T | ClinGen:CA181281098 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.115C>T (p.Gln39Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 377730553 | RCV001186594|RCV001862938; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995006 | 90995006 | | | 8:g.90995006G>A | - | | |
NM_002485.5(NBN):c.113_114insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA | 4683 | NBN | Pathogenic | 2129925072 | RCV001382770; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995007 | 90995008 | | | 90995007 | - | | |
NM_002485.5(NBN):c.113A>T (p.Asp38Val) | 4683 | NBN | Uncertain significance | 2129925061 | RCV002025236|RCV003130657; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90995008 | 90995008 | | | 90995008 | - | | |
NM_002485.5(NBN):c.112G>C (p.Asp38His) | 4683 | NBN | Uncertain significance | 876659565 | RCV000219457|RCV001372465; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995009 | 90995009 | | | 8:g.90995009C>G | ClinGen:CA10578813 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.112G>T (p.Asp38Tyr) | 4683 | NBN | Uncertain significance | -1 | RCV002579210; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995009 | 90995009 | | | NC_000008.10:g.90995009C>A | - | | |
NM_002485.5(NBN):c.111T>A (p.Asn37Lys) | 4683 | NBN | Uncertain significance | -1 | RCV002726667; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995010 | 90995010 | | | NC_000008.10:g.90995010A>T | - | | |
NM_002485.5(NBN):c.109A>G (p.Asn37Asp) | 4683 | NBN | Conflicting interpretations of pathogenicity | 876658411 | RCV000217641|RCV000469351; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995012 | 90995012 | | | 8:g.90995012T>C | ClinGen:CA10578814 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.105T>G (p.Ile35Met) | 4683 | NBN | Conflicting interpretations of pathogenicity | 78870221 | RCV000216738|RCV000533679|RCV001570359|RCV003475034; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90995016 | 90995016 | | | 8:g.90995016A>C | ClinGen:CA4803056 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.105T>A (p.Ile35=) | 4683 | NBN | Likely benign | 78870221 | RCV000476795|RCV000571363|RCV001712310; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90995016 | 90995016 | | | 8:g.90995016A>T | ClinGen:CA4803057 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.105T>C (p.Ile35=) | 4683 | NBN | Likely benign | 78870221 | RCV002148659; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995016 | 90995016 | | | 90995016 | - | | |
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) | 4683 | NBN | Conflicting interpretations of pathogenicity | 587780773 | RCV000123202|RCV000221417|RCV000484131|RCV001264517|RCV003467093; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90995017 | 90995017 | | | 8:g.90995017A>G | ClinGen:CA332807 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.103A>T (p.Ile35Phe) | 4683 | NBN | Uncertain significance | 2129925202 | RCV001902915; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995018 | 90995018 | | | 90995018 | - | | |
NM_002485.5(NBN):c.102G>A (p.Leu34=) | 4683 | NBN | Benign | 1063045 | RCV000162359|RCV000242759|RCV000387572|RCV001711427|RCV002225467|RCV003315969; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|Human Phenotype Ontology:HP:00048 | 8 | 90995019 | 90995019 | | | 8:g.90995019C>T | ClinGen:CA186157 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.102G>T (p.Leu34=) | 4683 | NBN | Likely benign | -1 | RCV002632970; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995019 | 90995019 | | | | - | | |
NM_002485.5(NBN):c.101T>G (p.Leu34Arg) | 4683 | NBN | Uncertain significance | 1012390181 | RCV000549829|RCV002298649|RCV002367816; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995020 | 90995020 | | | NC_000008.10:g.90995020A>C | ClinGen:CA181281117 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.99T>A (p.Ile33=) | 4683 | NBN | Likely benign | 1172365532 | RCV000979920; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995022 | 90995022 | | | 8:g.90995022A>T | - | | |
NM_002485.5(NBN):c.99T>G (p.Ile33Met) | 4683 | NBN | Uncertain significance | 1172365532 | RCV001035513|RCV003160205|RCV003467703; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90995022 | 90995022 | | | 8:g.90995022A>C | - | | |
NM_002485.5(NBN):c.97A>G (p.Ile33Val) | 4683 | NBN | Uncertain significance | 1563584435 | RCV000709064|RCV001188198; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995024 | 90995024 | | | 8:g.90995024T>C | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.93_96dup (p.Ile33fs) | 4683 | NBN | Pathogenic | 2129925355 | RCV001949625; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995024 | 90995025 | | | 90995024 | - | | |
NM_002485.5(NBN):c.97A>C (p.Ile33Leu) | 4683 | NBN | Uncertain significance | -1 | RCV003040624; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995024 | 90995024 | | | NC_000008.10:g.90995024T>G | - | | |
NM_002485.5(NBN):c.93_94del (p.Ala32fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 864622253 | RCV000206712|RCV000221111|RCV001569090|RCV001824684|RCV003468934; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; Human Phenotype Ontology:HP:0002665,MONDO:MONDO | 8 | 90995027 | 90995028 | | | 8:g.90995027_90995028del | ClinGen:CA350713 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.92G>A (p.Cys31Tyr) | 4683 | NBN | Uncertain significance | 1377520302 | RCV000692664; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995029 | 90995029 | | | 8:g.90995029C>T | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.92G>C (p.Cys31Ser) | 4683 | NBN | Uncertain significance | 1377520302 | RCV000798750; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995029 | 90995029 | | | 8:g.90995029C>G | - | | |
NM_002485.5(NBN):c.91T>C (p.Cys31Arg) | 4683 | NBN | Uncertain significance | 876658553 | RCV000218564|RCV001363922; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995030 | 90995030 | | | 8:g.90995030A>G | ClinGen:CA10578815 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.88_89del (p.Asn30fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 587781718 | RCV000129902|RCV000411130; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995032 | 90995033 | | | 8:g.90995032_90995033del | ClinGen:CA165319 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.83_89del (p.Arg28fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1554569106 | RCV000574627|RCV000794401; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995032 | 90995038 | | | NC_000008.10:g.90995034_90995040del | ClinGen:CA658657796 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.89del (p.Asn30fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 587781718 | RCV000988091; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995032 | 90995032 | | | 8:g.90995032_90995032del | - | | |
NM_002485.5(NBN):c.86A>G (p.Lys29Arg) | 4683 | NBN | Uncertain significance | 1554569112 | RCV000556426|RCV001178803; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995035 | 90995035 | | | NC_000008.10:g.90995035T>C | ClinGen:CA371663405 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.83G>A (p.Arg28Lys) | 4683 | NBN | Uncertain significance | 876658581 | RCV000218413|RCV000694610; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995038 | 90995038 | | | 8:g.90995038C>T | ClinGen:CA10578816 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.82A>G (p.Arg28Gly) | 4683 | NBN | Uncertain significance | 1563584545 | RCV001315586; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995039 | 90995039 | | | NC_000008.10:g.90995039T>C | - | | |
NM_002485.5(NBN):c.81A>T (p.Gly27=) | 4683 | NBN | Uncertain significance | 2129925626 | RCV001940011; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995040 | 90995040 | | | 90995040 | - | | |
NM_002485.5(NBN):c.80G>T (p.Gly27Val) | 4683 | NBN | Uncertain significance | 755171159 | RCV000228051|RCV000568019|RCV001582771; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90995041 | 90995041 | | | NC_000008.10:g.90995041C>A | ClinGen:CA4803058 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.80G>A (p.Gly27Glu) | 4683 | NBN | Uncertain significance | 755171159 | RCV001039445; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995041 | 90995041 | | | 8:g.90995041C>T | - | | |
NM_002485.5(NBN):c.74TTG[1] (p.Val26del) | 4683 | NBN | Uncertain significance | 2129925669 | RCV002006134; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995042 | 90995044 | | | 90995041 | - | | |
NM_002485.5(NBN):c.78dup (p.Gly27fs) | 4683 | NBN | Pathogenic | -1 | RCV002870770; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995042 | 90995043 | | | NC_000008.10:g.90995044dup | - | | |
NM_002485.5(NBN):c.77T>C (p.Val26Ala) | 4683 | NBN | Uncertain significance | 781536675 | RCV000820194|RCV002408973; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995044 | 90995044 | | | 8:g.90995044A>G | - | | |
NM_002485.5(NBN):c.75dup (p.Val26fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1199711768 | RCV000573403|RCV001207042|RCV003329308; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90995045 | 90995046 | | | 8:g.90995045_90995046insA | ClinGen:CA658657797 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.76G>T (p.Val26Phe) | 4683 | NBN | Uncertain significance | 752964949 | RCV000807597|RCV002397652|RCV002487734; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; MONDO:MONDO:000 | 8 | 90995045 | 90995045 | | | 8:g.90995045C>A | - | | |
NM_002485.5(NBN):c.76G>A (p.Val26Ile) | 4683 | NBN | Uncertain significance | 752964949 | RCV001921957; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995045 | 90995045 | | | 90995045 | - | | |
NM_002485.5(NBN):c.75T>G (p.Val25=) | 4683 | NBN | Likely benign | 1000181272 | RCV000569120|RCV000921985; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995046 | 90995046 | | | NC_000008.10:g.90995046A>C | ClinGen:CA181281144 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.73G>A (p.Val25Ile) | 4683 | NBN | Conflicting interpretations of pathogenicity | 587781748 | RCV000129954|RCV000212726|RCV000232974|RCV000656923; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90995048 | 90995048 | | | 8:g.90995048C>T | ClinGen:CA294139 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.73G>T (p.Val25Phe) | 4683 | NBN | Uncertain significance | 587781748 | RCV000693538|RCV001026395; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995048 | 90995048 | | | 8:g.90995048C>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.72C>T (p.Tyr24=) | 4683 | NBN | Likely benign | 1001590969 | RCV000604467|RCV000636798|RCV002385947; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995049 | 90995049 | | | 8:g.90995049G>A | ClinGen:CA181281149 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.71A>C (p.Tyr24Ser) | 4683 | NBN | Uncertain significance | 1812137176 | RCV001350461; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995050 | 90995050 | | | 90995050 | - | | |
NM_002485.5(NBN):c.71A>G (p.Tyr24Cys) | 4683 | NBN | Uncertain significance | -1 | RCV003020673; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995050 | 90995050 | | | NC_000008.10:g.90995050T>C | - | | |
NM_002485.5(NBN):c.69G>A (p.Glu23=) | 4683 | NBN | Likely benign | 876659411 | RCV000213528|RCV001416347; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995052 | 90995052 | | | 8:g.90995052C>T | ClinGen:CA10578817 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.68del (p.Glu23fs) | 4683 | NBN | Pathogenic | -1 | RCV002872059; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995053 | 90995053 | | | NC_000008.10:g.90995053del | - | | |
NM_002485.5(NBN):c.64G>A (p.Val22Ile) | 4683 | NBN | Uncertain significance | 369910645 | RCV000227804|RCV000572001; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995057 | 90995057 | | | 8:g.90995057C>T | ClinGen:CA4803061 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.64G>T (p.Val22Phe) | 4683 | NBN | Uncertain significance | 369910645 | RCV000540870; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995057 | 90995057 | | | NC_000008.10:g.90995057C>A | ClinGen:CA371663582 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.63C>T (p.Gly21=) | 4683 | NBN | Likely benign | 1064795458 | RCV000478218|RCV000636813|RCV000775832; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995058 | 90995058 | | | 8:g.90995058G>A | ClinGen:CA16618718 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.63C>A (p.Gly21=) | 4683 | NBN | Likely benign | -1 | RCV002894692; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995058 | 90995058 | | | | - | | |
NM_002485.5(NBN):c.60del (p.Gly21fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 758708229 | RCV000657335|RCV000815061|RCV001024899|RCV003472052; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90995061 | 90995061 | | | NC_000008.10:g.90995061del | - | CN517202 not provided; | |
NM_002485.5(NBN):c.60T>C (p.Thr20=) | 4683 | NBN | Likely benign | -1 | RCV002979226; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995061 | 90995061 | | | | - | | |
NM_002485.5(NBN):c.59C>T (p.Thr20Ile) | 4683 | NBN | Uncertain significance | 1563584711 | RCV000685243; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995062 | 90995062 | | | 8:g.90995062G>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.57G>A (p.Leu19=) | 4683 | NBN | Likely benign | 1434720352 | RCV000582065|RCV001469776; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995064 | 90995064 | | | NC_000008.10:g.90995064C>T | ClinGen:CA461831577 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.55_56del (p.Leu19fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 876659305 | RCV000213118|RCV001220381|RCV001546090; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90995065 | 90995066 | | | 8:g.90995065_90995066del | ClinGen:CA10578818 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.56T>G (p.Leu19Trp) | 4683 | NBN | Uncertain significance | 749263651 | RCV000562197|RCV001853722; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995065 | 90995065 | | | 8:g.90995065A>C | ClinGen:CA4803063 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.56del (p.Leu18_Leu19insTer) | 4683 | NBN | Pathogenic | 876659305 | RCV001204788; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995065 | 90995065 | | | 8:g.90995065_90995065del | - | | |
NM_002485.5(NBN):c.55T>C (p.Leu19=) | 4683 | NBN | Likely benign | 1586112097 | RCV000980079|RCV002346186; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995066 | 90995066 | | | 8:g.90995066A>G | - | | |
NM_002485.5(NBN):c.55T>G (p.Leu19Val) | 4683 | NBN | Uncertain significance | 1586112097 | RCV001295567|RCV002350515; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995066 | 90995066 | | | 90995066 | - | | |
NM_002485.5(NBN):c.52C>A (p.Leu18Ile) | 4683 | NBN | Uncertain significance | 587781939 | RCV000130303|RCV000232902|RCV001582603|RCV003323410|RCV003467138; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18 | 8 | 90995069 | 90995069 | | | 8:g.90995069G>T | ClinGen:CA166136 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.47_51del (p.Tyr16fs) | 4683 | NBN | Likely pathogenic | -1 | RCV002307965; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995070 | 90995074 | | | 90995069 | - | | |
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 2129926091 | RCV001385181|RCV003399206; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647| | 8 | 90995073 | 90995073 | | | 90995073 | - | | |
NM_002485.5(NBN):c.48C>T (p.Tyr16=) | 4683 | NBN | Likely benign | 2129926091 | RCV001484410|RCV002342092; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995073 | 90995073 | | | 90995073 | - | | |
NM_002485.5(NBN):c.47A>C (p.Tyr16Ser) | 4683 | NBN | Uncertain significance | 864622726 | RCV000204001; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995074 | 90995074 | | | NC_000008.10:g.90995074T>G | ClinGen:CA348276 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.45A>G (p.Pro15=) | 4683 | NBN | Likely benign | 577332041 | RCV000231577|RCV000569202|RCV001722231; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 8 | 90995076 | 90995076 | | | NC_000008.10:g.90995076T>C | ClinGen:CA4803064 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.45A>C (p.Pro15=) | 4683 | NBN | Likely benign | 577332041 | RCV001438018; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995076 | 90995076 | | | NC_000008.10:g.90995076T>G | ClinGen:CA461831586 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.43C>T (p.Pro15Ser) | 4683 | NBN | Uncertain significance | 1563584802 | RCV002039218; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995078 | 90995078 | | | 90995078 | - | | |
NM_002485.5(NBN):c.42A>G (p.Glu14=) | 4683 | NBN | Likely benign | 957561936 | RCV001496846; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995079 | 90995079 | | | 8:g.90995079T>C | - | | |
NM_002485.5(NBN):c.42A>C (p.Glu14Asp) | 4683 | NBN | Uncertain significance | 957561936 | RCV001369869|RCV002329387; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90995079 | 90995079 | | | 90995079 | - | | |
NM_002485.5(NBN):c.40G>A (p.Glu14Lys) | 4683 | NBN | Uncertain significance | 745439506 | RCV000216199|RCV001540678|RCV001800579; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995081 | 90995081 | | | 8:g.90995081C>T | ClinGen:CA4803065 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.38_40del | 4683 | NBN | Uncertain significance | 1350231265 | RCV000985877|RCV001190047|RCV001217720|RCV003313791; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C5669877 | 8 | 90995081 | 90995083 | | | | - | | |
NM_002485.5(NBN):c.39A>C (p.Gly13=) | 4683 | NBN | Likely benign | 876660470 | RCV000218197|RCV001396604; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995082 | 90995082 | | | 8:g.90995082T>G | ClinGen:CA10578819 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.39A>G (p.Gly13=) | 4683 | NBN | Likely benign | 876660470 | RCV002061067; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995082 | 90995082 | | | NC_000008.10:g.90995082T>C | - | | |
NM_002485.5(NBN):c.38-2A>G | 4683 | NBN | Likely pathogenic | 771475965 | RCV000775396|RCV001067027|RCV003465698; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90995085 | 90995085 | | | NC_000008.10:g.90995085T>C | - | | |
NM_002485.5(NBN):c.38-3C>G | 4683 | NBN | Uncertain significance | 876661099 | RCV000213999|RCV000636758|RCV001183809|RCV003475046; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90995086 | 90995086 | | | 8:g.90995086G>C | ClinGen:CA10577372 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.38-3C>T | 4683 | NBN | Uncertain significance | 876661099 | RCV001856142; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995086 | 90995086 | | | NC_000008.10:g.90995086G>A | - | | |
NM_002485.5(NBN):c.38-4T>C | 4683 | NBN | Likely benign | -1 | RCV002853286; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995087 | 90995087 | | | NC_000008.10:g.90995087A>G | - | | |
NM_002485.5(NBN):c.38-5C>T | 4683 | NBN | Conflicting interpretations of pathogenicity | 775244752 | RCV000221618|RCV000439470|RCV001496026; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995088 | 90995088 | | | 8:g.90995088G>A | ClinGen:CA4803067 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.38-6T>C | 4683 | NBN | Likely benign | 2129926315 | RCV001418667; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995089 | 90995089 | | | 90995089 | - | | |
NM_002485.5(NBN):c.38-7A>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 863224392 | RCV000197294|RCV001705149; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90995090 | 90995090 | | | 8:g.90995090T>C | ClinGen:CA337102 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.38-10_38-9dup | 4683 | NBN | Likely benign | 2129926374 | RCV001482969; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995090 | 90995091 | | | 90995090 | - | | |
NM_002485.5(NBN):c.38-7A>T | 4683 | NBN | Likely benign | -1 | RCV003054069; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995090 | 90995090 | | | NC_000008.10:g.90995090T>A | - | | |
NM_002485.5(NBN):c.38-8T>A | 4683 | NBN | Likely benign | 62531987 | RCV001245016; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995091 | 90995091 | | | 8:g.90995091A>T | - | | |
NM_002485.5(NBN):c.38-9T>G | 4683 | NBN | Likely benign | 191514058 | RCV000816904; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995092 | 90995092 | | | 8:g.90995092A>C | - | | |
NM_002485.5(NBN):c.38-10T>A | 4683 | NBN | Conflicting interpretations of pathogenicity | 556807466 | RCV000127085|RCV000200594|RCV000733762|RCV002225409; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145 | 8 | 90995093 | 90995093 | | | 8:g.90995093A>T | ClinGen:CA292412 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.38-10T>C | 4683 | NBN | Likely benign | 556807466 | RCV000465585; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995093 | 90995093 | | | NC_000008.10:g.90995093A>G | ClinGen:CA16612679 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.38-11dup | 4683 | NBN | Conflicting interpretations of pathogenicity | 752004731 | RCV000582547|RCV000616770|RCV002061882; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995093 | 90995094 | | | NC_000008.10:g.90995102dup | ClinGen:CA4803069 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.38-11_38-10del | 4683 | NBN | Likely benign | 1812142541 | RCV001295167; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995093 | 90995094 | | | 90995092 | - | | |
NM_002485.5(NBN):c.38-11A>T | 4683 | NBN | Likely benign | 770165601 | RCV000608718|RCV002063969; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995094 | 90995094 | | | 8:g.90995094T>A | ClinGen:CA4803071 | CN169374 not specified; | |
NM_002485.5(NBN):c.38-11A>G | 4683 | NBN | Uncertain significance | 770165601 | RCV002559904; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995094 | 90995094 | | | 8:g.90995094T>C | - | | |
NM_002485.5(NBN):c.38-11del | 4683 | NBN | Conflicting interpretations of pathogenicity | 752004731 | RCV002068164|RCV003223702; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90995094 | 90995094 | | | 8:g.90995094_90995094del | - | | |
NM_002485.5(NBN):c.38-14_38-11del | 4683 | NBN | Likely benign | 752004731 | RCV002082473; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995094 | 90995097 | | | 90995093 | - | | |
NM_002485.5(NBN):c.38-12A>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 773524364 | RCV002257310|RCV003101427; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995095 | 90995095 | | | 90995095 | - | | |
NM_002485.5(NBN):c.38-13A>T | 4683 | NBN | Likely benign | -1 | RCV003087146; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995096 | 90995096 | | | NC_000008.10:g.90995096T>A | - | | |
NM_002485.5(NBN):c.38-14A>C | 4683 | NBN | Likely benign | -1 | RCV003009812; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995097 | 90995097 | | | NC_000008.10:g.90995097T>G | - | | |
NM_002485.5(NBN):c.38-20dup | 4683 | NBN | Benign/Likely benign | 757737980 | RCV000482587|RCV002063795; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995102 | 90995103 | | | 8:g.90995102_90995103insA | ClinGen:CA4803075 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.38-19A>T | 4683 | NBN | Benign/Likely benign | 766849651 | RCV000679465|RCV002061883; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995102 | 90995102 | | | 8:g.90995102T>A | ClinGen:CA4803074 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.38-19A>G | 4683 | NBN | Likely benign | 766849651 | RCV002207300; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995102 | 90995102 | | | 90995102 | - | | |
NM_002485.5(NBN):c.38-20T>A | 4683 | NBN | Likely benign | 774709748 | RCV000425656|RCV002062611; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995103 | 90995103 | | | 8:g.90995103A>T | ClinGen:CA4803076 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.38-20del | 4683 | NBN | Benign | 757737980 | RCV002131099; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90995103 | 90995103 | | | 90995102 | - | | |
NM_002485.5(NBN):c.37+20C>T | 4683 | NBN | Likely benign | 2129937606 | RCV002083787; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996733 | 90996733 | | | 90996733 | - | | |
NM_002485.5(NBN):c.37+19C>T | 4683 | NBN | Likely benign | 1340137425 | RCV002166351; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996734 | 90996734 | | | 90996734 | - | | |
NM_002485.5(NBN):c.37+19C>A | 4683 | NBN | Likely benign | -1 | RCV002632243; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996734 | 90996734 | | | NC_000008.10:g.90996734G>T | - | | |
NM_002485.5(NBN):c.37+18G>T | 4683 | NBN | Likely benign | 1812238225 | RCV002067927; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996735 | 90996735 | | | 8:g.90996735C>A | - | | |
NM_002485.5(NBN):c.37+17A>G | 4683 | NBN | Likely benign | 749712282 | RCV002178084; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996736 | 90996736 | | | 90996736 | - | | |
NM_002485.5(NBN):c.37+14G>T | 4683 | NBN | Likely benign | 1275597923 | RCV002190626; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996739 | 90996739 | | | 90996739 | - | | |
NM_002485.5(NBN):c.37+14G>A | 4683 | NBN | Likely benign | -1 | RCV003071728; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996739 | 90996739 | | | NC_000008.10:g.90996739C>T | - | | |
NM_002485.5(NBN):c.37+12dup | 4683 | NBN | Likely benign | 1563588481 | RCV002535620; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996740 | 90996741 | | | NC_000008.10:g.90996742dup | - | | |
NM_002485.5(NBN):c.37+13G>C | 4683 | NBN | Likely benign | -1 | RCV002608760; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996740 | 90996740 | | | NC_000008.10:g.90996740C>G | - | | |
NM_002485.5(NBN):c.37+12A>C | 4683 | NBN | Likely benign | 771196279 | RCV000423570|RCV002256228|RCV002524781; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996741 | 90996741 | | | 8:g.90996741T>G | ClinGen:CA4803092 | CN169374 not specified; | |
NM_002485.5(NBN):c.37+12A>T | 4683 | NBN | Likely benign | 771196279 | RCV002179152; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996741 | 90996741 | | | 90996741 | - | | |
NM_002485.5(NBN):c.37+11A>G | 4683 | NBN | Benign/Likely benign | 115032431 | RCV000679464|RCV001165001|RCV001355304|RCV001644684|RCV002225674|RCV002491152|RCV003316754; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; H | 8 | 90996742 | 90996742 | | | 8:g.90996742T>C | ClinGen:CA4803093 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37+10G>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 369408590 | RCV000198382|RCV000432416|RCV000580931|RCV000859143|RCV001356816; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142 | 8 | 90996743 | 90996743 | | | 8:g.90996743C>G | ClinGen:CA337883 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37+10G>A | 4683 | NBN | Likely benign | 369408590 | RCV000636805; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996743 | 90996743 | | | 8:g.90996743C>T | ClinGen:CA658797125 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.35_37+10del | 4683 | NBN | Likely pathogenic | 781710700 | RCV001379215|RCV002456595; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996743 | 90996755 | | | 90996742 | - | | |
NC_000008.10:g.(?_90996743)_(90996789_?)del | 4683 | NBN | Pathogenic | -1 | RCV001970066; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996743 | 90996789 | | | -1 | - | | |
NM_002485.5(NBN):c.37+8C>T | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554569655 | RCV000615842|RCV000636710; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996745 | 90996745 | | | NC_000008.10:g.90996745G>A | ClinGen:CA461831591 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37+8C>A | 4683 | NBN | Likely benign | 1554569655 | RCV002076730; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996745 | 90996745 | | | 90996745 | - | | |
NM_002485.5(NBN):c.37+7G>A | 4683 | NBN | Likely benign | 372850559 | RCV000226027|RCV000583671; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996746 | 90996746 | | | NC_000008.10:g.90996746C>T | ClinGen:CA4803095 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37+6G>T | 4683 | NBN | Uncertain significance | 540868733 | RCV000195899; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996747 | 90996747 | | | 8:g.90996747C>A | ClinGen:CA336027 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37+6G>C | 4683 | NBN | Conflicting interpretations of pathogenicity | 540868733 | RCV000231974|RCV000590289; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90996747 | 90996747 | | | NC_000008.10:g.90996747C>G | ClinGen:CA4803097 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37+6G>A | 4683 | NBN | Conflicting interpretations of pathogenicity | 540868733 | RCV000457854|RCV001721502|RCV001821292; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN169374 | 8 | 90996747 | 90996747 | | | NC_000008.10:g.90996747C>T | ClinGen:CA4803096 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37+5G>A | 4683 | NBN | Benign | 116735828 | RCV000129181|RCV000389618|RCV000759176|RCV000988092|RCV001354386|RCV002225425|RCV003315872; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1 | 8 | 90996748 | 90996748 | | | 8:g.90996748C>T | ClinGen:CA163914 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37+5G>T | 4683 | NBN | Uncertain significance | 116735828 | RCV001348020; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996748 | 90996748 | | | 90996748 | - | | |
NM_002485.5(NBN):c.37+4A>C | 4683 | NBN | Likely benign | 1586115968 | RCV001020924|RCV002069005; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996749 | 90996749 | | | 8:g.90996749T>G | - | | |
NM_002485.5(NBN):c.37+2dup | 4683 | NBN | Conflicting interpretations of pathogenicity | 876658183 | RCV000217464|RCV000795722|RCV003462408; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90996750 | 90996751 | | | NC_000008.10:g.90996751dup | ClinGen:CA10578820 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37+3A>G | 4683 | NBN | Conflicting interpretations of pathogenicity | 764356392 | RCV000432255|RCV000473199|RCV000582301; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996750 | 90996750 | | | 8:g.90996750T>C | ClinGen:CA4803098 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37+1G>A | 4683 | NBN | Pathogenic/Likely pathogenic | 574673404 | RCV000165888|RCV000470841|RCV000708614|RCV001270989|RCV001310161|RCV003468760; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145|Human Phenotype Ontology:HP:000191 | 8 | 90996752 | 90996752 | | | 8:g.90996752C>T | ClinGen:CA194448 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.37G>A (p.Gly13Arg) | 4683 | NBN | Uncertain significance | 757112911 | RCV000526745|RCV001184070; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996753 | 90996753 | | | NC_000008.10:g.90996753C>T | ClinGen:CA4803099 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.36A>C (p.Gly12=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554569658 | RCV000566109|RCV001235497; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996754 | 90996754 | | | 8:g.90996754T>G | ClinGen:CA461831594 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.36A>T (p.Gly12=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554569658 | RCV000707509|RCV002343576; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996754 | 90996754 | | | NC_000008.10:g.90996754T>A | - | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.36A>G (p.Gly12=) | 4683 | NBN | Uncertain significance | 1554569658 | RCV001038463; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996754 | 90996754 | | | 8:g.90996754T>C | - | | |
NM_002485.5(NBN):c.35G>C (p.Gly12Ala) | 4683 | NBN | Uncertain significance | 730881860 | RCV000160799|RCV001208076; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996755 | 90996755 | | | NC_000008.10:g.90996755C>G | ClinGen:CA299645 | CN517202 not provided; | |
NM_002485.5(NBN):c.35G>A (p.Gly12Glu) | 4683 | NBN | Uncertain significance | 730881860 | RCV000166444|RCV001220952; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996755 | 90996755 | | | 8:g.90996755C>T | ClinGen:CA195890 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.34G>A (p.Gly12Arg) | 4683 | NBN | Conflicting interpretations of pathogenicity | 878854511 | RCV000228075|RCV000762529|RCV000772147|RCV003475060; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90996756 | 90996756 | | | NC_000008.10:g.90996756C>T | ClinGen:CA10582607 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.33A>C (p.Ala11=) | 4683 | NBN | Likely benign | 1554569661 | RCV000583394|RCV001477650; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996757 | 90996757 | | | NC_000008.10:g.90996757T>G | ClinGen:CA461831597 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.33A>G (p.Ala11=) | 4683 | NBN | Likely benign | 1554569661 | RCV001418668; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996757 | 90996757 | | | 90996757 | - | | |
NM_002485.5(NBN):c.31G>A (p.Ala11Thr) | 4683 | NBN | Uncertain significance | -1 | RCV003015552; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996759 | 90996759 | | | NC_000008.10:g.90996759C>T | - | | |
NM_002485.5(NBN):c.30G>C (p.Pro10=) | 4683 | NBN | Likely benign | 750391983 | RCV000549282; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996760 | 90996760 | | | NC_000008.10:g.90996760C>G | ClinGen:CA461831598 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.30G>T (p.Pro10=) | 4683 | NBN | Likely benign | 750391983 | RCV002068363; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996760 | 90996760 | | | 8:g.90996760C>A | - | | |
NM_002485.5(NBN):c.30G>A (p.Pro10=) | 4683 | NBN | Uncertain significance | 750391983 | RCV002047195; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996760 | 90996760 | | | 90996760 | - | | |
NM_002485.5(NBN):c.28C>A (p.Pro10Thr) | 4683 | NBN | Uncertain significance | 758228844 | RCV000795693; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996762 | 90996762 | | | NC_000008.10:g.90996762G>T | - | | |
NM_002485.5(NBN):c.28C>T (p.Pro10Ser) | 4683 | NBN | Uncertain significance | 758228844 | RCV002568100; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996762 | 90996762 | | | 90996762 | - | | |
NM_002485.5(NBN):c.28C>G (p.Pro10Ala) | 4683 | NBN | Uncertain significance | 758228844 | RCV001971163; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996762 | 90996762 | | | 90996762 | - | | |
NM_002485.5(NBN):c.27C>T (p.Gly9=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 1554569662 | RCV000562307|RCV000611690|RCV000704342; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996763 | 90996763 | | | NC_000008.10:g.90996763G>A | ClinGen:CA461831602 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.26del (p.Gly9fs) | 4683 | NBN | Pathogenic | 1060503485 | RCV000458518; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996764 | 90996764 | | | NC_000008.10:g.90996766del | ClinGen:CA16612389 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.26G>T (p.Gly9Val) | 4683 | NBN | Uncertain significance | 1554569664 | RCV000535302; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996764 | 90996764 | | | NC_000008.10:g.90996764C>A | ClinGen:CA371664155 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.25G>A (p.Gly9Ser) | 4683 | NBN | Uncertain significance | 2129938127 | RCV001899681|RCV003164209; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996765 | 90996765 | | | 90996765 | - | | |
NM_002485.5(NBN):c.24G>A (p.Ala8=) | 4683 | NBN | Conflicting interpretations of pathogenicity | 779543740 | RCV000570467|RCV001064416|RCV001704270; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90996766 | 90996766 | | | 8:g.90996766C>T | ClinGen:CA4803103 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.24G>T (p.Ala8=) | 4683 | NBN | Likely benign | 779543740 | RCV002083143; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996766 | 90996766 | | | 90996766 | - | | |
NM_002485.5(NBN):c.23C>T (p.Ala8Val) | 4683 | NBN | Uncertain significance | 1060503459 | RCV000457469|RCV001805079; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996767 | 90996767 | | | NC_000008.10:g.90996767G>A | ClinGen:CA16612557 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.23C>G (p.Ala8Gly) | 4683 | NBN | Uncertain significance | 1060503459 | RCV001578686; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996767 | 90996767 | | | 90996767 | - | | |
NM_002485.5(NBN):c.14_23del (p.Leu5fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 2129938178 | RCV002037656|RCV003475213; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90996767 | 90996776 | | | 90996766 | - | | |
NM_002485.5(NBN):c.21C>G (p.Ala7=) | 4683 | NBN | Likely benign | 370050587 | RCV000444539|RCV000561743|RCV000636819; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996769 | 90996769 | | | 8:g.90996769G>C | ClinGen:CA4803105 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.21C>T (p.Ala7=) | 4683 | NBN | Likely benign | 370050587 | RCV000636820|RCV001698275|RCV002429425; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996769 | 90996769 | | | 8:g.90996769G>A | ClinGen:CA4803104 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.21C>A (p.Ala7=) | 4683 | NBN | Uncertain significance | 370050587 | RCV001301826; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996769 | 90996769 | | | 90996769 | - | | |
NM_002485.5(NBN):c.20C>T (p.Ala7Val) | 4683 | NBN | Conflicting interpretations of pathogenicity | 781057669 | RCV001236445|RCV002418811; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996770 | 90996770 | | | 8:g.90996770G>A | - | | |
NM_002485.5(NBN):c.19G>A (p.Ala7Thr) | 4683 | NBN | Uncertain significance | 587780779 | RCV000123211|RCV001014001; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996771 | 90996771 | | | 8:g.90996771C>T | ClinGen:CA332820 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.19G>C (p.Ala7Pro) | 4683 | NBN | Uncertain significance | 587780779 | RCV001875577; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996771 | 90996771 | | | 90996771 | - | | |
NM_002485.5(NBN):c.18C>T (p.Pro6=) | 4683 | NBN | Likely benign | 786201394 | RCV000163536|RCV001501365; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996772 | 90996772 | | | 8:g.90996772G>A | ClinGen:CA188557 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.18C>G (p.Pro6=) | 4683 | NBN | Likely benign | 786201394 | RCV000565805|RCV000925589; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996772 | 90996772 | | | 8:g.90996772G>C | ClinGen:CA461831606 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.17C>T (p.Pro6Leu) | 4683 | NBN | Uncertain significance | 876658432 | RCV000222282|RCV001233526; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996773 | 90996773 | | | 8:g.90996773G>A | ClinGen:CA10578821 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.16C>T (p.Pro6Ser) | 4683 | NBN | Uncertain significance | 730881859 | RCV000160798|RCV000197183|RCV000212724|RCV003467264; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90996774 | 90996774 | | | NC_000008.10:g.90996774G>A | ClinGen:CA299642 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.16C>A (p.Pro6Thr) | 4683 | NBN | Uncertain significance | 730881859 | RCV001052228; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996774 | 90996774 | | | 8:g.90996774G>T | - | | |
NM_002485.5(NBN):c.16C>G (p.Pro6Ala) | 4683 | NBN | Uncertain significance | 730881859 | RCV001208049|RCV002402609; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996774 | 90996774 | | | 8:g.90996774G>C | - | | |
NM_002485.5(NBN):c.15G>C (p.Leu5=) | 4683 | NBN | Likely benign | 1363180098 | RCV000564097|RCV000978904|RCV001438200; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996775 | 90996775 | | | 8:g.90996775C>G | ClinGen:CA461831609 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.15G>A (p.Leu5=) | 4683 | NBN | Likely benign | 1363180098 | RCV002188404|RCV002400383; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996775 | 90996775 | | | 90996775 | - | | |
NM_002485.5(NBN):c.14T>A (p.Leu5Gln) | 4683 | NBN | Uncertain significance | 1586116142 | RCV000793304; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996776 | 90996776 | | | 8:g.90996776A>T | - | | |
NM_002485.5(NBN):c.14T>C (p.Leu5Pro) | 4683 | NBN | Uncertain significance | 1586116142 | RCV002033629; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996776 | 90996776 | | | 90996776 | - | | |
NM_002485.5(NBN):c.13C>G (p.Leu5Val) | 4683 | NBN | Uncertain significance | 1563588747 | RCV000776598|RCV001337830; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996777 | 90996777 | | | NC_000008.10:g.90996777G>C | - | | |
NM_002485.5(NBN):c.12G>A (p.Leu4=) | 4683 | NBN | Likely benign | 1812243844 | RCV001489020|RCV002384801; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996778 | 90996778 | | | 90996778 | - | | |
NM_002485.5(NBN):c.11T>C (p.Leu4Pro) | 4683 | NBN | Uncertain significance | 748090667 | RCV000463112|RCV000569693|RCV001840577|RCV003476115; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90996779 | 90996779 | | | NC_000008.10:g.90996779A>G | ClinGen:CA16612508 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.11del (p.Leu4fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1064793210 | RCV000480086|RCV000529669|RCV000575658|RCV003470527; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90996779 | 90996779 | | | NC_000008.10:g.90996779del | ClinGen:CA16618719 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.11T>G (p.Leu4Arg) | 4683 | NBN | Uncertain significance | 748090667 | RCV000546827|RCV000565981|RCV000764792; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967 | 8 | 90996779 | 90996779 | | | NC_000008.10:g.90996779A>C | ClinGen:CA181286161 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.10C>T (p.Leu4=) | 4683 | NBN | Likely benign | 1426394881 | RCV000582478|RCV001435689; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996780 | 90996780 | | | 8:g.90996780G>A | ClinGen:CA461831615 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.10C>G (p.Leu4Val) | 4683 | NBN | Uncertain significance | 1426394881 | RCV001214168|RCV003163634; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996780 | 90996780 | | | 8:g.90996780G>C | - | | |
NM_002485.5(NBN):c.9A>C (p.Lys3Asn) | 4683 | NBN | Uncertain significance | -1 | RCV002297662; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996781 | 90996781 | | | 90996781 | - | | |
NM_002485.5(NBN):c.9A>G (p.Lys3=) | 4683 | NBN | Likely benign | -1 | RCV003042005; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996781 | 90996781 | | | | - | | |
NM_002485.5(NBN):c.7A>T (p.Lys3Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 779098734 | RCV000581960|RCV000707330; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996783 | 90996783 | | | 8:g.90996783T>A | ClinGen:CA4803108 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.6G>A (p.Trp2Ter) | 4683 | NBN | Pathogenic/Likely pathogenic | 876661130 | RCV000220864|RCV001854740; | N | MedGen:CN517202|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996784 | 90996784 | | | NC_000008.10:g.90996784C>T | ClinGen:CA10577371 | CN517202 not provided; | |
NM_002485.5(NBN):c.5G>A (p.Trp2Ter) | 4683 | NBN | Pathogenic | 1812244679 | RCV001270990|RCV002537743; | N | MedGen:CN221562|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996785 | 90996785 | | | 8:g.90996785C>T | - | | |
NM_002485.5(NBN):c.4del (p.Trp2fs) | 4683 | NBN | Pathogenic/Likely pathogenic | 1275657359 | RCV001389546|RCV002341832|RCV003469758; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88 | 8 | 90996786 | 90996786 | | | 90996785 | - | | |
NM_002485.5(NBN):c.3G>A (p.Met1Ile) | 4683 | NBN | Uncertain significance | 1554569682 | RCV000525671; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996787 | 90996787 | | | NC_000008.10:g.90996787C>T | ClinGen:CA371664229 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.2T>C (p.Met1Thr) | 4683 | NBN | Conflicting interpretations of pathogenicity | 746422391 | RCV000484157|RCV000695139|RCV001184071; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 8 | 90996788 | 90996788 | | | 8:g.90996788A>G | ClinGen:CA4803109 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.-2C>A | 4683 | NBN | Conflicting interpretations of pathogenicity | 202104448 | RCV000130810|RCV000422154|RCV001284195|RCV001800437; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996791 | 90996791 | | | 8:g.90996791G>T | ClinGen:CA167158 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.-2C>T | 4683 | NBN | Likely benign | 202104448 | RCV000130921|RCV001355337|RCV001719901|RCV002492508; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Hum | 8 | 90996791 | 90996791 | | | 8:g.90996791G>A | ClinGen:CA167381 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.-3C>T | 4683 | NBN | Uncertain significance | 1276313619 | RCV001021625|RCV001800933; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996792 | 90996792 | | | 8:g.90996792G>A | - | | |
NM_002485.5(NBN):c.-7C>A | 4683 | NBN | Uncertain significance | 1210776869 | RCV001284318|RCV001800877|RCV002282365; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:CN169374 | 8 | 90996796 | 90996796 | | | NC_000008.10:g.90996796G>T | - | | |
NM_002485.5(NBN):c.-10A>T | 4683 | NBN | Conflicting interpretations of pathogenicity | 759094270 | RCV000586130|RCV001800804|RCV003420019; | N | MedGen:C3661900|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647| | 8 | 90996799 | 90996799 | | | 8:g.90996799T>A | ClinGen:CA4803113 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_002485.5(NBN):c.-26G>A | 4683 | NBN | Conflicting interpretations of pathogenicity | 201392451 | RCV000160779|RCV000352846; | N | MedGen:CN169374|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996815 | 90996815 | | | NC_000008.10:g.90996815C>T | ClinGen:CA299592 | C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; | |
NM_002485.5(NBN):c.-46C>A | 4683 | NBN | Uncertain significance | 751549166 | RCV001165002; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647 | 8 | 90996835 | 90996835 | | | 8:g.90996835G>T | - | | |
NC_000008.11:g.89984913_89984916del | 4683 | NBN | Benign | 36226237 | RCV001510924|RCV001685373; | N | MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647|MedGen:C3661900 | 8 | 90997138 | 90997141 | | | | - | | |