Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001360016.2(G6PD):c.120+3646C>T | 8517 | IKBKG | Uncertain significance | rs782367664 | RCV000767994; | N | MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636, Orphanet:319605, Orphanet:319612; MONDO:MONDO:0010368,MedGen:C1845117; MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464; MONDO:MONDO:0010295,MedGen:C4303737, Orphanet:69088; MONDO:MONDO:0020740,MedGe | X | 153770605 | 153770605 | G | A | NC_000023.10:g.153770605G>A | - | | |
NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs) | 8517 | IKBKG | Pathogenic | rs2070949441 | RCV000012204; | N | MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153780334 | 153780335 | G | GCACCTGCCTT | NC_000023.10:g.153780337_153780346dup | OMIM:300248.0003 | C0021171 308300 Incontinentia pigmenti syndrome; | |
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter) | 8517 | IKBKG | Pathogenic | rs137853323 | RCV000012205|RCV000256164; | N | MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464|MedGen:CN517202 | X | 153780401 | 153780401 | C | T | X:g.153780401C>T | ClinGen:CA255890,OMIM:300248.0006 | C0021171 308300 Incontinentia pigmenti syndrome; | |
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter) | 8517 | IKBKG | Pathogenic | rs2071063100 | RCV001199162; | N | MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153784550 | 153784550 | C | T | X:g.153784550C>T | - | | |
NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del | 8517 | IKBKG | Pathogenic | -1 | RCV001785272; | N | MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153784642 | 153814360 | na | na | -1 | - | | |
NM_001099857.5(IKBKG):c.518+866C>T | 8517 | IKBKG | Pathogenic | rs2071101767 | RCV000757923|RCV001172475; | N | |MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153787731 | 153787731 | C | T | NC_000023.10:g.153787731C>T | OMIM:300248.0024 | | |
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter) | 8517 | IKBKG | Pathogenic | rs2071133474 | RCV001251338; | N | MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153789937 | 153789937 | C | T | X:g.153789937C>T | - | | |
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) | 8517 | IKBKG | Uncertain significance | -1 | RCV002053866; | N | MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636, Orphanet:319605, Orphanet:319612; MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464; MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291, Orphanet:238468, Orphanet:98813 | X | 153789991 | 153789991 | C | G | 153789991 | - | | |
NM_001099857.5(IKBKG):c.1110dup (p.Ala371fs) | 8517 | IKBKG | Pathogenic | rs1569556615 | RCV000012201; | N | MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153792222 | 153792223 | G | GC | NC_000023.10:g.153792228dup | OMIM:300248.0004 | | |
NM_001099857.5(IKBKG):c.1117+1G>A | 8517 | IKBKG | Pathogenic | rs2071161458 | RCV001172484|RCV001172485; | N | |MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153792236 | 153792236 | G | A | NC_000023.10:g.153792236G>A | OMIM:300248.0031 | | |
NM_001099857.5(IKBKG):c.1117+5G>C | 8517 | IKBKG | Uncertain significance | rs1557236796 | RCV000523987|RCV001172481|RCV001172480; | N | MedGen:CN517202|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464| | X | 153792240 | 153792240 | G | C | X:g.153792240G>C | ClinGen:CA658659077,OMIM:300248.0028 | CN169374 not specified; | |
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) | 8517 | IKBKG | Pathogenic | rs782178147 | RCV000012209|RCV000413717|RCV001172473; | N | MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291, Orphanet:238468, Orphanet:98813|MedGen:CN517202|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153792576 | 153792577 | G | GC | X:g.153792576_153792577insC | ClinGen:CA10566455,OMIM:300248.0008 | CN517202 not provided; | |
NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs) | 8517 | IKBKG | Pathogenic | rs2071167272 | RCV000012213; | N | MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153792579 | 153792580 | C | CCCCCGAGGAGCCA | NC_000023.10:g.153792582_153792594dup | OMIM:300248.0012 | CN231145 Incontinentia pigmenti, atypical; | |
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val) | 8517 | IKBKG | Pathogenic | rs137853327 | RCV000024285|RCV001172474; | N | |MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153792633 | 153792633 | A | T | X:g.153792633A>T | ClinGen:CA121479,UniProtKB:Q9Y6K9#VAR_011324,OMIM:300248.0011 | C1846008 Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia; | |
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) | 8517 | IKBKG | Likely pathogenic | rs137853322 | RCV000012202|RCV001582474; | N | MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464|MedGen:CN517202 | X | 153792635 | 153792635 | A | G | X:g.153792635A>G | ClinGen:CA255887,UniProtKB:Q9Y6K9#VAR_009182,OMIM:300248.0005 | C0021171 308300 Incontinentia pigmenti syndrome; | |
NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp) | 8517 | IKBKG | Pathogenic | rs137853321 | RCV000012203|RCV000170521; | N | |MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464 | X | 153792675 | 153792675 | A | G | X:g.153792675A>G | ClinGen:CA121467,OMIM:300248.0002 | C1845919 300301 Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; | |