Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000051.4(ATM):c.7381C>A (p.Arg2461Ser) | 472 | ATM | Uncertain significance | -1 | RCV003328120; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 108201014 | 108201014 | | | | - | | |
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter) | 79577 | CDC73 | Likely pathogenic | -1 | RCV003233053; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 1 | 193091400 | 193091400 | | | | - | | |
NC_000011.10:g.(?_64803514)_(64810132_?)del | 4221 | MEN1 | Pathogenic | -1 | RCV000471021; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64570986 | 64577604 | | | | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NC_000011.10:g.(?_64803514)_(64804816_?)del | 4221 | MEN1 | Pathogenic | -1 | RCV000456206; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64570986 | 64572288 | | | | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_000244.3(MEN1):c.1366_*820del1303 (p.Val456_Ter(616_?)(?)) | 4221 | MEN1 | Pathogenic | -1 | RCV000694224; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64570986 | 64572288 | | | 11:g.64570986_64571084del | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.*794G>A | 4221 | MEN1 | Benign/Likely benign | 117705251 | RCV000323655|RCV000380647; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64571012 | 64571012 | | | NC_000011.9:g.64571012C>T | ClinGen:CA10638984 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.*693T>C | 4221 | MEN1 | Uncertain significance | 1229690026 | RCV001103229|RCV001103228; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571113 | 64571113 | | | 11:g.64571113A>G | - | | |
NM_001370259.2(MEN1):c.*470A>G | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 778272737 | RCV000302380|RCV000359433|RCV000736006|RCV002248514; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0007052,MedGen:C4538355,OMIM:102200, Orphanet:314777, Orphanet:963|MedGen:CN169374 | 11 | 64571336 | 64571336 | | | 11:g.64571336T>C | ClinGen:CA10635265 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.*438C>T | 4221 | MEN1 | Uncertain significance | 886048474 | RCV000305835|RCV000399525; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571368 | 64571368 | | | 11:g.64571368G>A | ClinGen:CA10639624 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.*400G>A | 4221 | MEN1 | Uncertain significance | 1351825181 | RCV001105142|RCV001105141; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571406 | 64571406 | | | 11:g.64571406C>T | - | | |
NM_001370259.2(MEN1):c.*392G>A | 4221 | MEN1 | Uncertain significance | 886048475 | RCV000271312|RCV000363607; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571414 | 64571414 | | | 11:g.64571414C>T | ClinGen:CA10631161 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.*373G>C | 4221 | MEN1 | Uncertain significance | 886048476 | RCV000328807|RCV000367135; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571433 | 64571433 | | | 11:g.64571433C>G | ClinGen:CA10639630 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.*341C>G | 4221 | MEN1 | Uncertain significance | 892949876 | RCV001105143|RCV001105144; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64571465 | 64571465 | | | 11:g.64571465G>C | - | | |
NM_001370259.2(MEN1):c.*307T>G | 4221 | MEN1 | Benign/Likely benign | 1804848 | RCV000278044|RCV000389312|RCV001582939; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64571499 | 64571499 | | | 11:g.64571499A>C | ClinGen:CA10638988 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.*302C>T | 4221 | MEN1 | Benign/Likely benign | 1804849 | RCV000317316|RCV000374227|RCV001612967; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64571504 | 64571504 | | | 11:g.64571504G>A | ClinGen:CA10631163 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.*272T>C | 4221 | MEN1 | Uncertain significance | 563783609 | RCV000282016|RCV000339408; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64571534 | 64571534 | | | 11:g.64571534A>G | ClinGen:CA10631164 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.*245C>T | 4221 | MEN1 | Uncertain significance | 1941463518 | RCV001106270|RCV001106271; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64571561 | 64571561 | | | 11:g.64571561G>A | - | | |
NM_001370259.2(MEN1):c.*185C>T | 4221 | MEN1 | Benign/Likely benign | 111895237 | RCV000285411|RCV000398124; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64571621 | 64571621 | | | 11:g.64571621G>A | ClinGen:CA10631169 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.1351-2_*132del | 4221 | MEN1 | Pathogenic | 1565634591 | RCV000704250; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571674 | 64572290 | | | 11:g.64571674_64571772del | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.*126C>T | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 138595686 | RCV001108501|RCV001108502|RCV001615115; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64571680 | 64571680 | | | 11:g.64571680G>A | - | | |
NM_001370259.2(MEN1):c.*104C>T | 4221 | MEN1 | Uncertain significance | 886048477 | RCV000342836|RCV000398139; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64571702 | 64571702 | | | 11:g.64571702G>A | ClinGen:CA10639636 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.*89G>A | 4221 | MEN1 | Uncertain significance | 886048478 | RCV000308171|RCV000365188; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571717 | 64571717 | | | 11:g.64571717C>T | ClinGen:CA10631171 | C0020502 Hyperparathyroidism; | |
NC_000011.10:g.(?_64804324)_(64810716_?)del | 4221 | MEN1 | Pathogenic | -1 | RCV000811348; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571796 | 64578188 | | | | - | | |
NC_000011.9:g.(?_64571796)_(64572298_?)del | 4221 | MEN1 | Pathogenic | -1 | RCV001963093; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571796 | 64572298 | | | -1 | - | | |
NC_000011.10:g.(?_64804334)_(64810716_?)del | 4221 | MEN1 | Pathogenic | -1 | RCV001033318; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571806 | 64578188 | | | -1 | - | | |
NC_000011.10:g.(?_64804334)_(64810716_?)dup | 4221 | MEN1 | Uncertain significance | -1 | RCV001033615; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571806 | 64578188 | | | -1 | - | | |
NM_001370259.2(MEN1):c.1828C>T (p.Leu610Phe) | 4221 | MEN1 | Uncertain significance | 1941484511 | RCV001312931|RCV002411998; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571811 | 64571811 | | | 64571811 | - | | |
NM_001370259.2(MEN1):c.1826G>T (p.Gly609Val) | 4221 | MEN1 | Likely benign | 1186858249 | RCV000632145; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571813 | 64571813 | | | 11:g.64571813C>A | ClinGen:CA381177026 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1822A>G (p.Lys608Glu) | 4221 | MEN1 | Uncertain significance | 2136076826 | RCV002407246|RCV002033633; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571817 | 64571817 | | | 64571817 | - | | |
NM_001370259.2(MEN1):c.1821C>T (p.Arg607=) | 4221 | MEN1 | Likely benign | 2136076868 | RCV002095002|RCV002409487; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571818 | 64571818 | | | 64571818 | - | | |
NM_001370259.2(MEN1):c.1819C>T (p.Arg607Cys) | 4221 | MEN1 | Uncertain significance | 770686655 | RCV001306174; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571820 | 64571820 | | | 64571820 | - | | |
NM_001370259.2(MEN1):c.1818G>A (p.Gln606=) | 4221 | MEN1 | Likely benign | -1 | RCV002591243; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571821 | 64571821 | | | | - | | |
NM_001370259.2(MEN1):c.1814G>A (p.Arg605Gln) | 4221 | MEN1 | Uncertain significance | 1555163002 | RCV001036536; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571825 | 64571825 | | | 11:g.64571825C>T | - | | |
NM_001370259.2(MEN1):c.1814G>T (p.Arg605Leu) | 4221 | MEN1 | Uncertain significance | 1555163002 | RCV001209609; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571825 | 64571825 | | | 11:g.64571825C>A | - | | |
NM_001370259.2(MEN1):c.1813C>G (p.Arg605Gly) | 4221 | MEN1 | Uncertain significance | 2136077141 | RCV001890050; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571826 | 64571826 | | | 64571826 | - | | |
NM_001370259.2(MEN1):c.1812G>C (p.Lys604Asn) | 4221 | MEN1 | Uncertain significance | -1 | RCV003045046; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571827 | 64571827 | | | NC_000011.9:g.64571827C>G | - | | |
NM_001370259.2(MEN1):c.1806C>T (p.Phe602=) | 4221 | MEN1 | Likely benign | 1060503794 | RCV001409455|RCV003380582; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571833 | 64571833 | | | NC_000011.9:g.64571833G>A | ClinGen:CA16613659 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1805dup (p.Leu603fs) | 4221 | MEN1 | Uncertain significance | 1941486297 | RCV001227670; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571833 | 64571834 | | | 11:g.64571833_64571834insA | - | | |
NM_001370259.2(MEN1):c.1802C>G (p.Ser601Cys) | 4221 | MEN1 | Uncertain significance | -1 | RCV002298107; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571837 | 64571837 | | | 64571837 | - | | |
NM_001370259.2(MEN1):c.1801T>C (p.Ser601Pro) | 4221 | MEN1 | Uncertain significance | 1941486843 | RCV001312354; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571838 | 64571838 | | | 64571838 | - | | |
NM_001370259.2(MEN1):c.1800_1801del (p.Ser601fs) | 4221 | MEN1 | Uncertain significance | -1 | RCV002824412; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571838 | 64571839 | | | NC_000011.9:g.64571839_64571840del | - | | |
NM_001370259.2(MEN1):c.1800G>T (p.Leu600=) | 4221 | MEN1 | Likely benign | 148825200 | RCV000542760|RCV000611916|RCV002413456; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571839 | 64571839 | | | NC_000011.9:g.64571839C>A | ClinGen:CA060968 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1800G>C (p.Leu600=) | 4221 | MEN1 | Likely benign | -1 | RCV002710753; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571839 | 64571839 | | | | - | | |
NM_001370259.2(MEN1):c.1800G>A (p.Leu600=) | 4221 | MEN1 | Likely benign | -1 | RCV002833395; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571839 | 64571839 | | | | - | | |
NM_001370259.2(MEN1):c.1798_1799del (p.Leu600fs) | 4221 | MEN1 | Uncertain significance | 1555163017 | RCV000530307; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571840 | 64571841 | | | 11:g.64571840_64571841del | ClinGen:CA658656128 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1798C>T (p.Leu600=) | 4221 | MEN1 | Likely benign | 2136077489 | RCV001465129; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571841 | 64571841 | | | 64571841 | - | | |
NM_001370259.2(MEN1):c.1797T>C (p.Thr599=) | 4221 | MEN1 | Likely benign | 2136077544 | RCV001492126; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571842 | 64571842 | | | 64571842 | - | | |
NM_001370259.2(MEN1):c.1795A>G (p.Thr599Ala) | 4221 | MEN1 | Uncertain significance | 1941487702 | RCV001305554; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571844 | 64571844 | | | 64571844 | - | | |
NM_001370259.2(MEN1):c.1794C>T (p.Tyr598=) | 4221 | MEN1 | Likely benign | 2136077605 | RCV001434778; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571845 | 64571845 | | | 64571845 | - | | |
NM_001370259.2(MEN1):c.1790A>C (p.Asp597Ala) | 4221 | MEN1 | Uncertain significance | -1 | RCV002576214; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571849 | 64571849 | | | NC_000011.9:g.64571849T>G | - | | |
NM_001370259.2(MEN1):c.1787G>C (p.Ser596Thr) | 4221 | MEN1 | Uncertain significance | 2136077666 | RCV001928626; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571852 | 64571852 | | | 64571852 | - | | |
NM_001370259.2(MEN1):c.1784C>G (p.Pro595Arg) | 4221 | MEN1 | Uncertain significance | 2136077699 | RCV001904449; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571855 | 64571855 | | | 64571855 | - | | |
NM_001370259.2(MEN1):c.1783C>T (p.Pro595Ser) | 4221 | MEN1 | Uncertain significance | 2136077722 | RCV002019268; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571856 | 64571856 | | | 64571856 | - | | |
NM_001370259.2(MEN1):c.1780A>G (p.Thr594Ala) | 4221 | MEN1 | Uncertain significance | 1941488490 | RCV001263014; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571859 | 64571859 | | | 11:g.64571859T>C | - | | |
NM_001370259.2(MEN1):c.1780A>C (p.Thr594Pro) | 4221 | MEN1 | Uncertain significance | -1 | RCV003029670; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571859 | 64571859 | | | NC_000011.9:g.64571859T>G | - | | |
NM_001370259.2(MEN1):c.1779C>T (p.Ser593=) | 4221 | MEN1 | Likely benign | 1157546350 | RCV000559082|RCV003362827; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571860 | 64571860 | | | 11:g.64571860G>A | ClinGen:CA475163001 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1411766225 | RCV000697463|RCV003303155; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571862 | 64571862 | | | NC_000011.9:g.64571862A>G | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1775T>C (p.Val592Ala) | 4221 | MEN1 | Uncertain significance | 1941489030 | RCV002036638|RCV002398129; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571864 | 64571864 | | | 64571864 | - | | |
NM_001370259.2(MEN1):c.1770G>C (p.Gln590His) | 4221 | MEN1 | Uncertain significance | 1470506250 | RCV002039601; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571869 | 64571869 | | | 64571869 | - | | |
NM_001370259.2(MEN1):c.1762AAG[1] (p.Lys589del) | 4221 | MEN1 | Uncertain significance | 1303070443 | RCV000694676|RCV002397414; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571872 | 64571874 | | | NC_000011.9:g.64571873TTC[1] | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1764G>A (p.Lys588=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 373669288 | RCV000199306|RCV000400551|RCV000311483|RCV000566719; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C | 11 | 64571875 | 64571875 | | | NC_000011.9:g.64571875C>T | ClinGen:CA060947 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1761G>A (p.Met587Ile) | 4221 | MEN1 | Uncertain significance | 1555163058 | RCV000546677|RCV003159747; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571878 | 64571878 | | | NC_000011.9:g.64571878C>T | ClinGen:CA381177410 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1758G>A (p.Gln586=) | 4221 | MEN1 | Likely benign | 759563305 | RCV001419347; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571881 | 64571881 | | | NC_000011.9:g.64571881C>T | ClinGen:CA060941 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter) | 4221 | MEN1 | Likely pathogenic | -1 | RCV003028068; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571883 | 64571883 | | | NC_000011.9:g.64571883G>A | - | | |
NM_001370259.2(MEN1):c.1755G>A (p.Val585=) | 4221 | MEN1 | Likely benign | 2136078442 | RCV001498116|RCV003382613; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571884 | 64571884 | | | 64571884 | - | | |
NM_001370259.2(MEN1):c.1754T>G (p.Val585Gly) | 4221 | MEN1 | Uncertain significance | 1592629417 | RCV000816259; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571885 | 64571885 | | | 11:g.64571885A>C | - | | |
NM_001370259.2(MEN1):c.1754T>A (p.Val585Glu) | 4221 | MEN1 | Uncertain significance | 1592629417 | RCV001341529; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571885 | 64571885 | | | 64571885 | - | | |
NM_001370259.2(MEN1):c.1749G>C (p.Ser583=) | 4221 | MEN1 | Likely benign | 765105348 | RCV001012972|RCV001428702; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571890 | 64571890 | | | NC_000011.9:g.64571890C>G | ClinGen:CA060934 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1749G>T (p.Ser583=) | 4221 | MEN1 | Likely benign | 765105348 | RCV001502503; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571890 | 64571890 | | | 64571890 | - | | |
NM_001370259.2(MEN1):c.1740G>C (p.Thr580=) | 4221 | MEN1 | Likely benign | 1114167530 | RCV000490893|RCV001460396; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571899 | 64571899 | | | NC_000011.9:g.64571899C>G | ClinGen:CA475163136 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1740G>A (p.Thr580=) | 4221 | MEN1 | Likely benign | 1114167530 | RCV001412596|RCV002400106; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571899 | 64571899 | | | 11:g.64571899C>T | - | | |
NM_001370259.2(MEN1):c.1739del (p.Thr580fs) | 4221 | MEN1 | Likely pathogenic | 864622617 | RCV000203927; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571900 | 64571900 | | | 11:g.64571900_64571900del | ClinGen:CA348208 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1739C>T (p.Thr580Met) | 4221 | MEN1 | Uncertain significance | 1941492703 | RCV001212417; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571900 | 64571900 | | | 11:g.64571900G>A | - | | |
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe) | 4221 | MEN1 | Uncertain significance | 1328296968 | RCV001058147|RCV002402420; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571904 | 64571904 | | | 11:g.64571904G>A | - | | |
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter) | 4221 | MEN1 | Likely pathogenic | -1 | RCV003062399; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571907 | 64571907 | | | NC_000011.9:g.64571907G>A | - | | |
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 794728634 | RCV000182428|RCV000491331|RCV001852316; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571909 | 64571909 | | | NC_000011.9:g.64571909A>G | ClinGen:CA009298 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1729C>T (p.Leu577=) | 4221 | MEN1 | Likely benign | 762744342 | RCV000928594|RCV002409200; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571910 | 64571910 | | | 11:g.64571910G>A | - | | |
NM_001370259.2(MEN1):c.1727A>C (p.Lys576Thr) | 4221 | MEN1 | Uncertain significance | 1941495030 | RCV001229136; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571912 | 64571912 | | | 11:g.64571912T>G | - | | |
NM_001370259.2(MEN1):c.1725C>G (p.Ile575Met) | 4221 | MEN1 | Uncertain significance | 1941495298 | RCV001956774; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571914 | 64571914 | | | 64571914 | - | | |
NM_001370259.2(MEN1):c.1720G>A (p.Ala574Thr) | 4221 | MEN1 | Uncertain significance | -1 | RCV002294789; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571919 | 64571919 | | | 64571919 | - | | |
NM_001370259.2(MEN1):c.1718G>A (p.Ser573Asn) | 4221 | MEN1 | Uncertain significance | 1257993399 | RCV001212802; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571921 | 64571921 | | | 11:g.64571921C>T | - | | |
NM_001370259.2(MEN1):c.1713C>T (p.Asn571=) | 4221 | MEN1 | Likely benign | 1347492310 | RCV002190054; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571926 | 64571926 | | | 64571926 | - | | |
NM_001370259.2(MEN1):c.1705A>G (p.Lys569Glu) | 4221 | MEN1 | Uncertain significance | -1 | RCV003010012; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571934 | 64571934 | | | NC_000011.9:g.64571934T>C | - | | |
NM_001370259.2(MEN1):c.1703C>T (p.Thr568Ile) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 751839903 | RCV001052604|RCV002400303; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571936 | 64571936 | | | 11:g.64571936G>A | - | | |
NM_001370259.2(MEN1):c.1703C>G (p.Thr568Ser) | 4221 | MEN1 | Uncertain significance | 751839903 | RCV001342592; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571936 | 64571936 | | | 64571936 | - | | |
NM_001370259.2(MEN1):c.1701C>T (p.Ala567=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 757417271 | RCV000491209|RCV000553378|RCV001500075; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571938 | 64571938 | | | NC_000011.9:g.64571938G>A | ClinGen:CA060907 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro) | 4221 | MEN1 | Uncertain significance | 1555163185 | RCV000574893|RCV003465261; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571940 | 64571940 | | | NC_000011.9:g.64571940C>G | ClinGen:CA381177639 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1698G>A (p.Val566=) | 4221 | MEN1 | Likely benign | 2136080002 | RCV001470899; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571941 | 64571941 | | | 64571941 | - | | |
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=) | 4221 | MEN1 | Likely benign | 767677287 | RCV000564918|RCV000756336|RCV001087239; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571944 | 64571944 | | | NC_000011.9:g.64571944C>A | ClinGen:CA060897 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1693C>T (p.Leu565=) | 4221 | MEN1 | Likely benign | 1251646520 | RCV001407162; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571946 | 64571946 | | | 64571946 | - | | |
NM_001370259.2(MEN1):c.1692G>T (p.Leu564=) | 4221 | MEN1 | Likely benign | 367581776 | RCV000632156|RCV001012772; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571947 | 64571947 | | | 11:g.64571947C>A | ClinGen:CA060893 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1691T>C (p.Leu564Pro) | 4221 | MEN1 | Uncertain significance | 2136080204 | RCV002013733|RCV002407289; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571948 | 64571948 | | | 64571948 | - | | |
NM_001370259.2(MEN1):c.1689G>A (p.Glu563=) | 4221 | MEN1 | Likely benign | 1178628764 | RCV001478555|RCV002414156; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571950 | 64571950 | | | 64571950 | - | | |
NM_001370259.2(MEN1):c.1686G>A (p.Lys562=) | 4221 | MEN1 | Likely benign | 2136080412 | RCV002152865; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571953 | 64571953 | | | 64571953 | - | | |
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr) | 4221 | MEN1 | Uncertain significance | 1941501393 | RCV001893760; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571957 | 64571957 | | | 64571957 | - | | |
NM_001370259.2(MEN1):c.1672_1679del (p.Met558fs) | 4221 | MEN1 | Pathogenic | 1941501683 | RCV001065726; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571960 | 64571967 | | | 11:g.64571960_64571967del | - | | |
NM_001370259.2(MEN1):c.1677G>A (p.Lys559=) | 4221 | MEN1 | Likely benign | 2136080688 | RCV002162680; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571962 | 64571962 | | | 64571962 | - | | |
NM_001370259.2(MEN1):c.1674dup (p.Lys559fs) | 4221 | MEN1 | Pathogenic | 1565635941 | RCV000689715; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571964 | 64571965 | | | NC_000011.9:g.64571965dup | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1674G>A (p.Met558Ile) | 4221 | MEN1 | Uncertain significance | -1 | RCV002405919|RCV003097096; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571965 | 64571965 | | | 64571965 | - | | |
NM_001370259.2(MEN1):c.1642_1673delinsCC (p.Gly548_Met558delinsPro) | 4221 | MEN1 | Pathogenic | -1 | RCV003001978; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571966 | 64571997 | | | NC_000011.9:g.64571966_64571997delinsGG | - | | |
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 794728661 | RCV000182464|RCV001223385|RCV003407673; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652| | 11 | 64571967 | 64571969 | | | NC_000011.9:g.64571967TCT[1] | ClinGen:CA009279 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.1670del (p.Lys557fs) | 4221 | MEN1 | Pathogenic | 1592630079 | RCV000824610; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571969 | 64571969 | | | 11:g.64571969_64571969del | - | | |
NM_001370259.2(MEN1):c.1670A>T (p.Lys557Met) | 4221 | MEN1 | Uncertain significance | -1 | RCV002297479; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571969 | 64571969 | | | 64571969 | - | | |
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1114167510 | RCV000491205|RCV001258063; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571971 | 64571974 | | | 11:g.64571971_64571974del | ClinGen:CA645369569 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1668G>A (p.Glu556=) | 4221 | MEN1 | Likely benign | 2136080910 | RCV001446044; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571971 | 64571971 | | | 64571971 | - | | |
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 863224527 | RCV000199920|RCV000507111|RCV000491766; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571975 | 64571975 | | | NC_000011.9:g.64571975C>T | ClinGen:CA338972 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter) | 4221 | MEN1 | Pathogenic | 794728631 | RCV000182425|RCV000491870|RCV000542312; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571979 | 64571979 | | | NC_000011.9:g.64571979G>A | ClinGen:CA009272 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1660del (p.Gln554fs) | 4221 | MEN1 | Pathogenic | 2136081113 | RCV001881459; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571979 | 64571979 | | | 64571978 | - | | |
NM_001370259.2(MEN1):c.1659C>T (p.Phe553=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1299138529 | RCV000568387|RCV002060519; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571980 | 64571980 | | | NC_000011.9:g.64571980G>A | ClinGen:CA475163495 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1657_1658del (p.Phe553fs) | 4221 | MEN1 | Pathogenic | 2136081238 | RCV001951114; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571981 | 64571982 | | | 64571980 | - | | |
NM_001370259.2(MEN1):c.1658T>A (p.Phe553Tyr) | 4221 | MEN1 | Uncertain significance | -1 | RCV003035231; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571981 | 64571981 | | | NC_000011.9:g.64571981A>T | - | | |
NM_001370259.2(MEN1):c.1656T>C (p.Thr552=) | 4221 | MEN1 | Likely benign | 143423552 | RCV000490999|RCV000679253|RCV001086364|RCV003235049; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64571983 | 64571983 | | | NC_000011.9:g.64571983A>G | ClinGen:CA009268 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1654A>G (p.Thr552Ala) | 4221 | MEN1 | Uncertain significance | 121913035 | RCV001928013; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571985 | 64571985 | | | 64571985 | - | | |
NM_001370259.2(MEN1):c.1653C>T (p.Leu551=) | 4221 | MEN1 | Likely benign | 1592630324 | RCV001405627; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571986 | 64571986 | | | 11:g.64571986G>A | - | | |
NM_001370259.2(MEN1):c.1653C>G (p.Leu551=) | 4221 | MEN1 | Likely benign | 1592630324 | RCV000977248|RCV002400136; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571986 | 64571986 | | | 11:g.64571986G>C | - | | |
NM_001370259.2(MEN1):c.1651C>T (p.Leu551Phe) | 4221 | MEN1 | Uncertain significance | 990141724 | RCV001246504; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571988 | 64571988 | | | 11:g.64571988G>A | - | | |
NM_001370259.2(MEN1):c.1649T>G (p.Val550Gly) | 4221 | MEN1 | Uncertain significance | 1941506496 | RCV001045807; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571990 | 64571990 | | | 11:g.64571990A>C | - | | |
NM_001370259.2(MEN1):c.1649T>C (p.Val550Ala) | 4221 | MEN1 | Uncertain significance | 1941506496 | RCV002042767; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571990 | 64571990 | | | 64571990 | - | | |
NM_001370259.2(MEN1):c.1648G>C (p.Val550Leu) | 4221 | MEN1 | Uncertain significance | 562257963 | RCV000793423|RCV002307616|RCV002388419; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571991 | 64571991 | | | 11:g.64571991C>G | - | | |
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 562257963 | RCV001232905|RCV003166426; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571991 | 64571991 | | | 11:g.64571991C>A | - | | |
NM_001370259.2(MEN1):c.1648G>A (p.Val550Met) | 4221 | MEN1 | Uncertain significance | 562257963 | RCV001958521; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571991 | 64571991 | | | 64571991 | - | | |
NM_001370259.2(MEN1):c.1647A>G (p.Pro549=) | 4221 | MEN1 | Likely benign | 2136081746 | RCV002212227|RCV002391185; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571992 | 64571992 | | | 64571992 | - | | |
NM_001370259.2(MEN1):c.1646C>T (p.Pro549Leu) | 4221 | MEN1 | Uncertain significance | -1 | RCV002676777; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571993 | 64571993 | | | NC_000011.9:g.64571993G>A | - | | |
NM_001370259.2(MEN1):c.1641G>A (p.Glu547=) | 4221 | MEN1 | Likely benign | 1555163295 | RCV000632168|RCV003302993; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571998 | 64571998 | | | NC_000011.9:g.64571998C>T | ClinGen:CA475163594 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1640A>G (p.Glu547Gly) | 4221 | MEN1 | Likely benign | 914488914 | RCV000529882|RCV001012531; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64571999 | 64571999 | | | NC_000011.9:g.64571999T>C | ClinGen:CA223911789 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1640A>C (p.Glu547Ala) | 4221 | MEN1 | Uncertain significance | 914488914 | RCV001874788; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64571999 | 64571999 | | | 64571999 | - | | |
NM_001370259.2(MEN1):c.1633CCG[3] (p.Pro546dup) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 774350463 | RCV000168092|RCV002399595; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572000 | 64572001 | | | 11:g.64572000_64572001insCGG | ClinGen:CA334256 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1639G>A (p.Glu547Lys) | 4221 | MEN1 | Uncertain significance | 1941508162 | RCV001043456; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572000 | 64572000 | | | 11:g.64572000C>T | - | | |
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=) | 4221 | MEN1 | Benign/Likely benign | 368783097 | RCV000491078|RCV000679252|RCV000838399|RCV001086369; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572001 | 64572001 | | | NC_000011.9:g.64572001C>T | ClinGen:CA060874 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu) | 4221 | MEN1 | Uncertain significance | 779413959 | RCV000167886|RCV002399594; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572002 | 64572002 | | | NC_000011.9:g.64572002G>A | ClinGen:CA009249 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1636C>T (p.Pro546Ser) | 4221 | MEN1 | Uncertain significance | 2136082158 | RCV001890494; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572003 | 64572003 | | | 64572003 | - | | |
NM_001370259.2(MEN1):c.1635G>A (p.Pro545=) | 4221 | MEN1 | Likely benign | 1349729840 | RCV000553596|RCV001012390; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572004 | 64572004 | | | NC_000011.9:g.64572004C>T | ClinGen:CA475163627 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1634C>T (p.Pro545Leu) | 4221 | MEN1 | Uncertain significance | 1592630610 | RCV001889766|RCV002397822; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572005 | 64572005 | | | 64572005 | - | | |
NM_001370259.2(MEN1):c.1633C>T (p.Pro545Ser) | 4221 | MEN1 | Uncertain significance | 1941510179 | RCV001063209|RCV002402444; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572006 | 64572006 | | | 11:g.64572006G>A | - | | |
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser) | 4221 | MEN1 | Uncertain significance | 1387157979 | RCV001050468|RCV001529168; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64572009 | 64572009 | | | 11:g.64572009G>A | - | | |
NM_001370259.2(MEN1):c.1628C>T (p.Ser543Leu) | 4221 | MEN1 | Uncertain significance | 1592630661 | RCV000796623; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572011 | 64572011 | | | 11:g.64572011G>A | - | | |
NM_001370259.2(MEN1):c.1626A>G (p.Ala542=) | 4221 | MEN1 | Likely benign | 2136082421 | RCV002081377; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572013 | 64572013 | | | 64572013 | - | | |
NM_001370259.2(MEN1):c.1625C>T (p.Ala542Val) | 4221 | MEN1 | Uncertain significance | 1941511257 | RCV001344675; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572014 | 64572014 | | | 64572014 | - | | |
NM_001370259.2(MEN1):c.1621_1622delinsGA (p.Thr541Glu) | 4221 | MEN1 | Uncertain significance | 1941511781 | RCV001342856; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572017 | 64572018 | | | 64572017 | - | | |
NM_001370259.2(MEN1):c.1621= (p.Thr541=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 2959656 | RCV000034785|RCV000082334|RCV000210359|RCV001084452; | N | MedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0008200,Human Phenotype Ontology:HP:0008254,MONDO:MONDO:0010837,MedGen:C0221002|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572018 | 64572018 | | | 11:g.64572018T>. | ClinGen:CA009240 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala) | 4221 | MEN1 | Benign | 2959656 | RCV000121334|RCV000860147|RCV002227065; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64572018 | 64572018 | | | 11:g.64572018T>C | ClinGen:CA060856 | CN169374 not specified; | |
NM_001370259.2(MEN1):c.1621A>C (p.Thr541Pro) | 4221 | MEN1 | Uncertain significance | 2959656 | RCV000793172; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572018 | 64572018 | | | 11:g.64572018T>G | - | | |
NM_001370259.2(MEN1):c.1620_1621inv (p.Thr541Ala) | 4221 | MEN1 | Likely benign | -1 | RCV001484742; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572018 | 64572019 | | | 64572018 | - | | |
NM_001370259.2(MEN1):c.1620_1621delinsAG (p.Thr541Ala) | 4221 | MEN1 | Likely benign | 2136082604 | RCV001425924; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572018 | 64572019 | | | 64572018 | - | | |
NM_001370259.2(MEN1):c.1620C>T (p.Pro540=) | 4221 | MEN1 | Likely benign | 928470958 | RCV002542299|RCV003169386; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572019 | 64572019 | | | 11:g.64572019G>A | - | | |
NM_001370259.2(MEN1):c.1619C>G (p.Pro540Arg) | 4221 | MEN1 | Uncertain significance | 780844361 | RCV001895597; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572020 | 64572020 | | | 64572020 | - | | |
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 745404679 | RCV000231689|RCV000575915|RCV000679251|RCV000735331|RCV001103324; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0002415,Human Phenotype Ontology:HP:0006926,Human Phenotype Ontology:H | 11 | 64572021 | 64572021 | | | NC_000011.9:g.64572021G>A | ClinGen:CA009233 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1616C>T (p.Ala539Val) | 4221 | MEN1 | Uncertain significance | -1 | RCV002394861|RCV003097010; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572023 | 64572023 | | | 64572023 | - | | |
NM_001370259.2(MEN1):c.1610T>G (p.Val537Gly) | 4221 | MEN1 | Likely benign | 775422717 | RCV000814868|RCV002390649; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572029 | 64572029 | | | 11:g.64572029A>C | - | | |
NM_001370259.2(MEN1):c.1609G>A (p.Val537Met) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1057521847 | RCV000436800|RCV000491562|RCV001374124; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572030 | 64572030 | | | 11:g.64572030C>T | ClinGen:CA16606963 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1609G>C (p.Val537Leu) | 4221 | MEN1 | Likely benign | 1057521847 | RCV001991590; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572030 | 64572030 | | | 64572030 | - | | |
NM_001370259.2(MEN1):c.1609del (p.Val537fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 2136083128 | RCV001963123|RCV002388935|RCV003120788; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64572030 | 64572030 | | | 64572029 | - | | |
NM_001370259.2(MEN1):c.1608G>A (p.Gln536=) | 4221 | MEN1 | Likely benign | 1055457298 | RCV000564252|RCV001001327; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572031 | 64572031 | | | 11:g.64572031C>T | ClinGen:CA223911872 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1607A>G (p.Gln536Arg) | 4221 | MEN1 | Uncertain significance | 762867287 | RCV001012352|RCV001860704; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572032 | 64572032 | | | 11:g.64572032T>C | - | | |
NM_001370259.2(MEN1):c.1605T>C (p.Ala535=) | 4221 | MEN1 | Likely benign | 2136083318 | RCV001436580; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572034 | 64572034 | | | 64572034 | - | | |
NM_001370259.2(MEN1):c.1602G>A (p.Thr534=) | 4221 | MEN1 | Likely benign | 1592631034 | RCV001457349|RCV002400015; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572037 | 64572037 | | | 11:g.64572037C>T | - | | |
NM_001370259.2(MEN1):c.1602G>C (p.Thr534=) | 4221 | MEN1 | Likely benign | 1592631034 | RCV001459611|RCV002400077; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572037 | 64572037 | | | 11:g.64572037C>G | - | | |
NM_001370259.2(MEN1):c.1602G>T (p.Thr534=) | 4221 | MEN1 | Likely benign | 1592631034 | RCV001430739|RCV002405008; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572037 | 64572037 | | | 64572037 | - | | |
NM_001370259.2(MEN1):c.1601C>T (p.Thr534Met) | 4221 | MEN1 | Uncertain significance | 1192690654 | RCV001907841; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572038 | 64572038 | | | 64572038 | - | | |
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 587780843 | RCV000123383|RCV000572942; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572045 | 64572045 | | | NC_000011.9:g.64572045C>A | ClinGen:CA009225 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1592G>A (p.Gly531Asp) | 4221 | MEN1 | Uncertain significance | 1941517219 | RCV001342991; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572047 | 64572047 | | | 64572047 | - | | |
NM_001370259.2(MEN1):c.1591G>A (p.Gly531Ser) | 4221 | MEN1 | Uncertain significance | 1592631128 | RCV002041525; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572048 | 64572048 | | | 64572048 | - | | |
NM_001370259.2(MEN1):c.1590del (p.Gly531fs) | 4221 | MEN1 | Pathogenic | 886039421 | RCV000255871|RCV002518753; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572049 | 64572049 | | | 11:g.64572049_64572049del | ClinGen:CA10588526 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.1589A>C (p.Glu530Ala) | 4221 | MEN1 | Uncertain significance | 1565636654 | RCV000679250|RCV002544693; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572050 | 64572050 | | | NC_000011.9:g.64572050T>G | - | CN517202 not provided; | |
NM_001370259.2(MEN1):c.1588G>C (p.Glu530Gln) | 4221 | MEN1 | Uncertain significance | 762145604 | RCV001363933; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572051 | 64572051 | | | 64572051 | - | | |
NM_001370259.2(MEN1):c.1584C>G (p.Gly528=) | 4221 | MEN1 | Likely benign | 1592631208 | RCV001478735|RCV002400154; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572055 | 64572055 | | | 11:g.64572055G>C | - | | |
NM_001370259.2(MEN1):c.1583G>A (p.Gly528Asp) | 4221 | MEN1 | Uncertain significance | 1555163392 | RCV000632144; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572056 | 64572056 | | | 11:g.64572056C>T | ClinGen:CA381178330 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1085307502 | RCV000489063|RCV001039164|RCV002404280; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572059 | 64572059 | | | 11:g.64572059C>T | ClinGen:CA381178349 | CN169374 not specified; | |
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 104894261 | RCV000018168|RCV000182423|RCV000491431|RCV000515522; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 11 | 64572060 | 64572060 | | | 11:g.64572060G>A | ClinGen:CA009219,OMIM:613733.0012 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1578C>A (p.Ala526=) | 4221 | MEN1 | Likely benign | 767655504 | RCV000205589|RCV002256119; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572061 | 64572061 | | | 11:g.64572061G>T | ClinGen:CA060797 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1578C>T (p.Ala526=) | 4221 | MEN1 | Likely benign | 767655504 | RCV001012250|RCV001492730; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572061 | 64572061 | | | 11:g.64572061G>A | - | | |
NM_001370259.2(MEN1):c.1577C>T (p.Ala526Val) | 4221 | MEN1 | Uncertain significance | -1 | RCV002297141; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572062 | 64572062 | | | 64572062 | - | | |
NM_001370259.2(MEN1):c.1576G>A (p.Ala526Thr) | 4221 | MEN1 | Uncertain significance | 1295193195 | RCV002044109|RCV002545336; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MeSH:D030342,MedGen:C0950123 | 11 | 64572063 | 64572063 | | | 64572063 | - | | |
NM_001370259.2(MEN1):c.1574del (p.Thr525fs) | 4221 | MEN1 | Pathogenic | 1114167514 | RCV000490847|RCV001206955; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572065 | 64572065 | | | 11:g.64572065_64572065del | ClinGen:CA645369553 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1569T>G (p.Ala523=) | 4221 | MEN1 | Likely benign | 1592631415 | RCV000921904|RCV002400016; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572070 | 64572070 | | | 11:g.64572070A>C | - | | |
NM_001370259.2(MEN1):c.1569T>A (p.Ala523=) | 4221 | MEN1 | Uncertain significance | 1592631415 | RCV001318030; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572070 | 64572070 | | | 64572070 | - | | |
NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 760683615 | RCV000168386|RCV002399596; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572072 | 64572072 | | | NC_000011.9:g.64572072C>G | ClinGen:CA009213 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1567G>A (p.Ala523Thr) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 760683615 | RCV000632113|RCV002271541|RCV002404746; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572072 | 64572072 | | | NC_000011.9:g.64572072C>T | ClinGen:CA060785 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1566C>T (p.Val522=) | 4221 | MEN1 | Likely benign | -1 | RCV002405528|RCV003096944; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572073 | 64572073 | | | | - | | |
NM_001370259.2(MEN1):c.1564dup (p.Val522fs) | 4221 | MEN1 | Likely pathogenic | 1941522995 | RCV001174739; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572074 | 64572075 | | | 11:g.64572074_64572075insC | - | | |
NM_001370259.2(MEN1):c.1565T>C (p.Val522Ala) | 4221 | MEN1 | Uncertain significance | 1592631462 | RCV001221787; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572074 | 64572074 | | | 11:g.64572074A>G | - | | |
NM_001370259.2(MEN1):c.1564G>C (p.Val522Leu) | 4221 | MEN1 | Uncertain significance | 1060499983 | RCV000462233|RCV001012142; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572075 | 64572075 | | | NC_000011.9:g.64572075C>G | ClinGen:CA16613661 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1562C>T (p.Thr521Ile) | 4221 | MEN1 | Uncertain significance | 1565636898 | RCV000701461|RCV003165870; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572077 | 64572077 | | | NC_000011.9:g.64572077G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1562C>G (p.Thr521Ser) | 4221 | MEN1 | Uncertain significance | 1565636898 | RCV000814100; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572077 | 64572077 | | | 11:g.64572077G>C | - | | |
NM_001370259.2(MEN1):c.1561A>T (p.Thr521Ser) | 4221 | MEN1 | Uncertain significance | 1565636917 | RCV000691457; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572078 | 64572078 | | | NC_000011.9:g.64572078T>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1561A>C (p.Thr521Pro) | 4221 | MEN1 | Uncertain significance | 1565636917 | RCV001057973|RCV002402418; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572078 | 64572078 | | | 11:g.64572078T>G | - | | |
NM_001370259.2(MEN1):c.1561A>G (p.Thr521Ala) | 4221 | MEN1 | Uncertain significance | 1565636917 | RCV001996378; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572078 | 64572078 | | | 64572078 | - | | |
NM_001370259.2(MEN1):c.1560G>A (p.Gly520=) | 4221 | MEN1 | Likely benign | 969035156 | RCV002194046; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572079 | 64572079 | | | 64572079 | - | | |
NM_001370259.2(MEN1):c.1558G>A (p.Gly520Arg) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1427043628 | RCV001350060|RCV002404831; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572081 | 64572081 | | | 64572081 | - | | |
NM_001370259.2(MEN1):c.1556del (p.Pro519fs) | 4221 | MEN1 | Pathogenic | 2136084930 | RCV001384744|RCV001564679; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64572083 | 64572083 | | | 64572082 | - | | |
NM_001370259.2(MEN1):c.1554T>C (p.Pro518=) | 4221 | MEN1 | Likely benign | 2136084986 | RCV002184005; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572085 | 64572085 | | | 64572085 | - | | |
NM_001370259.2(MEN1):c.1554T>G (p.Pro518=) | 4221 | MEN1 | Likely benign | -1 | RCV002578638; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572085 | 64572085 | | | | - | | |
NM_001370259.2(MEN1):c.1552C>T (p.Pro518Ser) | 4221 | MEN1 | Uncertain significance | 1204943413 | RCV000812581|RCV002397677; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572087 | 64572087 | | | 11:g.64572087G>A | - | | |
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter) | 4221 | MEN1 | Pathogenic | 794728630 | RCV000491042|RCV001852315; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572090 | 64572090 | | | 11:g.64572090T>A | ClinGen:CA009207 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 761695866 | RCV000182442|RCV001174576|RCV002399657; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572090 | 64572091 | | | NC_000011.9:g.64572092dup | ClinGen:CA306384 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) | 4221 | MEN1 | Pathogenic | 767319284 | RCV000018171|RCV000269197|RCV000491230|RCV000548407; | N | Human Phenotype Ontology:HP:0030445,MONDO:MONDO:0006041,MedGen:C0280089|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572092 | 64572093 | | | 11:g.64572092_64572093insG | ClinGen:CA6082217,OMIM:613733.0015,OMIM:613733.0033 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1547G>A (p.Arg516Gln) | 4221 | MEN1 | Uncertain significance | 1565637104 | RCV000807352; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572092 | 64572092 | | | 11:g.64572092C>T | - | | |
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) | 4221 | MEN1 | Pathogenic | 767319284 | RCV000182439|RCV000228926|RCV001012050; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572093 | 64572093 | | | NC_000011.9:g.64572099del | ClinGen:CA009199,OMIM:613733.0028 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1546C>G (p.Arg516Gly) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 763160290 | RCV000695921|RCV002397421; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572093 | 64572093 | | | NC_000011.9:g.64572093G>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1546C>T (p.Arg516Trp) | 4221 | MEN1 | Uncertain significance | 763160290 | RCV000708705|RCV001321256; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572093 | 64572093 | | | NC_000011.9:g.64572093G>A | - | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1545C>A (p.Pro515=) | 4221 | MEN1 | Likely benign | 1555163491 | RCV000632161; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572094 | 64572094 | | | NC_000011.9:g.64572094G>T | ClinGen:CA475162960 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1544C>G (p.Pro515Arg) | 4221 | MEN1 | Uncertain significance | 1941528728 | RCV001306264; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572095 | 64572095 | | | 64572095 | - | | |
NM_001370259.2(MEN1):c.1543C>T (p.Pro515Ser) | 4221 | MEN1 | Uncertain significance | 779466487 | RCV000709156; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572096 | 64572096 | | | NC_000011.9:g.64572096G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1542C>T (p.Pro514=) | 4221 | MEN1 | Likely benign | 1592631827 | RCV001012112|RCV002550775; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572097 | 64572097 | | | 11:g.64572097G>A | - | | |
NM_001370259.2(MEN1):c.1542C>G (p.Pro514=) | 4221 | MEN1 | Likely benign | 1592631827 | RCV002125639; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572097 | 64572097 | | | 64572097 | - | | |
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg) | 4221 | MEN1 | Uncertain significance | 753022747 | RCV000233918|RCV000561798; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572098 | 64572098 | | | 11:g.64572098G>C | ClinGen:CA060761 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1541C>T (p.Pro514Leu) | 4221 | MEN1 | Uncertain significance | 753022747 | RCV000540194|RCV002404383; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572098 | 64572098 | | | NC_000011.9:g.64572098G>A | ClinGen:CA381178580 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1532_1541del (p.Val511fs) | 4221 | MEN1 | Pathogenic | 1941529928 | RCV001233728; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572098 | 64572107 | | | 11:g.64572098_64572107del | - | | |
NM_001370259.2(MEN1):c.1541C>A (p.Pro514His) | 4221 | MEN1 | Uncertain significance | 753022747 | RCV001974376|RCV003170328; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572098 | 64572098 | | | 64572098 | - | | |
NM_001370259.2(MEN1):c.1540C>A (p.Pro514Thr) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 150202288 | RCV000232118|RCV002401910; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572099 | 64572099 | | | NC_000011.9:g.64572099G>T | ClinGen:CA060747 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1540C>T (p.Pro514Ser) | 4221 | MEN1 | Likely benign | 150202288 | RCV000687699|RCV002397376; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572099 | 64572099 | | | NC_000011.9:g.64572099G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1539del (p.Arg516fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1592631908 | RCV001011983|RCV001860686; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572100 | 64572100 | | | 11:g.64572100_64572100del | - | | |
NM_001370259.2(MEN1):c.1539A>T (p.Gly513=) | 4221 | MEN1 | Likely benign | 1941530792 | RCV001209604|RCV002402620; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572100 | 64572100 | | | 11:g.64572100T>A | - | | |
NM_001370259.2(MEN1):c.1536A>G (p.Ser512=) | 4221 | MEN1 | Likely benign | 2136085950 | RCV001501188|RCV002405188; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572103 | 64572103 | | | 64572103 | - | | |
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 141679530 | RCV000168243|RCV000276552|RCV000561706|RCV001558467|RCV001818404|RCV003416048; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374| | 11 | 64572104 | 64572104 | | | NC_000011.9:g.64572104G>A | ClinGen:CA009193 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs) | 4221 | MEN1 | Pathogenic | 794728659 | RCV000182462|RCV000491410|RCV001382418; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572104 | 64572105 | | | NC_000011.9:g.64572105AC[3] | ClinGen:CA306434 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter) | 4221 | MEN1 | Pathogenic | 141679530 | RCV000550819; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572104 | 64572104 | | | NC_000011.9:g.64572104G>C | ClinGen:CA381178620 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1532dup (p.Ser512fs) | 4221 | MEN1 | Pathogenic | 1941531859 | RCV001215902; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572106 | 64572107 | | | 11:g.64572106_64572107insA | - | | |
NM_001370259.2(MEN1):c.1533G>A (p.Val511=) | 4221 | MEN1 | Likely benign | -1 | RCV003046278; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572106 | 64572106 | | | | - | | |
NM_001370259.2(MEN1):c.1530A>C (p.Ala510=) | 4221 | MEN1 | Likely benign | 1941532417 | RCV002107746; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572109 | 64572109 | | | 64572109 | - | | |
NM_001370259.2(MEN1):c.1529C>T (p.Ala510Val) | 4221 | MEN1 | Uncertain significance | 1356056436 | RCV001968959; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572110 | 64572110 | | | 64572110 | - | | |
NM_001370259.2(MEN1):c.1526G>T (p.Gly509Val) | 4221 | MEN1 | Uncertain significance | 769355346 | RCV000632099; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572113 | 64572113 | | | NC_000011.9:g.64572113C>A | ClinGen:CA381178671 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1526G>A (p.Gly509Asp) | 4221 | MEN1 | Uncertain significance | 769355346 | RCV001342594; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572113 | 64572113 | | | 64572113 | - | | |
NM_001370259.2(MEN1):c.1525G>A (p.Gly509Ser) | 4221 | MEN1 | Uncertain significance | 1941533809 | RCV001225651; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572114 | 64572114 | | | 11:g.64572114C>T | - | | |
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 386833403 | RCV000455940|RCV000464409|RCV000575663; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572117 | 64572117 | | | NC_000011.9:g.64572117G>T | ClinGen:CA060724 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter) | 4221 | MEN1 | Pathogenic | 386833403 | RCV001197197; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572117 | 64572117 | | | 11:g.64572117G>A | - | | |
NM_001370259.2(MEN1):c.1521C>A (p.Gly507=) | 4221 | MEN1 | Likely benign | 1407833502 | RCV000905665|RCV001011968; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572118 | 64572118 | | | 11:g.64572118G>T | - | | |
NM_001370259.2(MEN1):c.1519G>T (p.Gly507Cys) | 4221 | MEN1 | Uncertain significance | 1423874145 | RCV000533671; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572120 | 64572120 | | | 11:g.64572120C>A | ClinGen:CA381178712 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1519G>A (p.Gly507Ser) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1423874145 | RCV001038797|RCV002391105; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572120 | 64572120 | | | 11:g.64572120C>T | - | | |
NM_001370259.2(MEN1):c.1518C>T (p.Thr506=) | 4221 | MEN1 | Benign/Likely benign | 749265222 | RCV000228222|RCV000576040; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572121 | 64572121 | | | NC_000011.9:g.64572121G>A | ClinGen:CA060719 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1518C>A (p.Thr506=) | 4221 | MEN1 | Likely benign | 749265222 | RCV002092532; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572121 | 64572121 | | | 64572121 | - | | |
NM_001370259.2(MEN1):c.1517C>T (p.Thr506Ile) | 4221 | MEN1 | Uncertain significance | 1347992299 | RCV000694715|RCV002388259; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572122 | 64572122 | | | NC_000011.9:g.64572122G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1516A>C (p.Thr506Pro) | 4221 | MEN1 | Uncertain significance | 1060499994 | RCV000476839|RCV001011879|RCV001284274; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64572123 | 64572123 | | | NC_000011.9:g.64572123T>G | ClinGen:CA16613440 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1515C>T (p.Gly505=) | 4221 | MEN1 | Uncertain significance | 2136086851 | RCV001965300; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572124 | 64572124 | | | 64572124 | - | | |
NM_001370259.2(MEN1):c.1514G>T (p.Gly505Val) | 4221 | MEN1 | Uncertain significance | 1320934898 | RCV001361223; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572125 | 64572125 | | | 64572125 | - | | |
NM_001370259.2(MEN1):c.1514G>A (p.Gly505Asp) | 4221 | MEN1 | Uncertain significance | 1320934898 | RCV001371635; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572125 | 64572125 | | | 64572125 | - | | |
NM_001370259.2(MEN1):c.1510C>G (p.Leu504Val) | 4221 | MEN1 | Uncertain significance | 1390530663 | RCV001039930; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572129 | 64572129 | | | 11:g.64572129G>C | - | | |
NM_001370259.2(MEN1):c.1509C>T (p.Gly503=) | 4221 | MEN1 | Likely benign | -1 | RCV002587303; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572130 | 64572130 | | | | - | | |
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) | 4221 | MEN1 | Benign/Likely benign | 375804228 | RCV000491076|RCV000616587|RCV001000155|RCV001105230|RCV001705900; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:C3661900 | 11 | 64572131 | 64572131 | | | 11:g.64572131C>T | ClinGen:CA009181 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1507G>T (p.Gly503Cys) | 4221 | MEN1 | Uncertain significance | 2136087052 | RCV001959708; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572132 | 64572132 | | | 64572132 | - | | |
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 774296730 | RCV000458972|RCV000566191|RCV003392264; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 11 | 64572133 | 64572133 | | | NC_000011.9:g.64572133C>G | ClinGen:CA060705 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1505dup (p.Leu504fs) | 4221 | MEN1 | Pathogenic | 1555163591 | RCV000485290|RCV001851142; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572133 | 64572134 | | | NC_000011.9:g.64572135dup | ClinGen:CA16619357 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.1503C>G (p.Asp501Glu) | 4221 | MEN1 | Uncertain significance | 2136087305 | RCV001361936; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572136 | 64572136 | | | 64572136 | - | | |
NM_001370259.2(MEN1):c.1503C>T (p.Asp501=) | 4221 | MEN1 | Likely benign | 2136087305 | RCV002149127; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572136 | 64572136 | | | 64572136 | - | | |
NM_001370259.2(MEN1):c.1502A>T (p.Asp501Val) | 4221 | MEN1 | Uncertain significance | -1 | RCV003470093; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572137 | 64572137 | | | | - | | |
NM_001370259.2(MEN1):c.1500G>T (p.Leu500=) | 4221 | MEN1 | Likely benign | -1 | RCV002389934|RCV003095253; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572139 | 64572139 | | | | - | | |
NM_001370259.2(MEN1):c.1500G>A (p.Leu500=) | 4221 | MEN1 | Likely benign | -1 | RCV002948920; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572139 | 64572139 | | | | - | | |
NM_001370259.2(MEN1):c.1499T>G (p.Leu500Arg) | 4221 | MEN1 | Uncertain significance | 1941538934 | RCV002004867; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572140 | 64572140 | | | 64572140 | - | | |
NM_001370259.2(MEN1):c.1498C>T (p.Leu500=) | 4221 | MEN1 | Likely benign | 2136087489 | RCV001465960|RCV002396102; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572141 | 64572141 | | | 64572141 | - | | |
NM_001370259.2(MEN1):c.1497A>G (p.Ala499=) | 4221 | MEN1 | Likely benign | 1057121245 | RCV000926922|RCV002390934; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572142 | 64572142 | | | 11:g.64572142T>C | - | | |
NM_001370259.2(MEN1):c.1495G>A (p.Ala499Thr) | 4221 | MEN1 | Uncertain significance | 761517398 | RCV002257044|RCV003094199; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572144 | 64572144 | | | 64572144 | - | | |
NM_001370259.2(MEN1):c.1494A>T (p.Pro498=) | 4221 | MEN1 | Likely benign | 1037335560 | RCV000632157|RCV003343963; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572145 | 64572145 | | | NC_000011.9:g.64572145T>A | ClinGen:CA223912004 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1492C>G (p.Pro498Ala) | 4221 | MEN1 | Uncertain significance | 771842369 | RCV000794008|RCV002388425; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572147 | 64572147 | | | 11:g.64572147G>C | - | | |
NM_001370259.2(MEN1):c.1491G>A (p.Lys497=) | 4221 | MEN1 | Likely benign | 2136087753 | RCV002153292; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572148 | 64572148 | | | 64572148 | - | | |
NM_001370259.2(MEN1):c.1490A>G (p.Lys497Arg) | 4221 | MEN1 | Uncertain significance | 1941540571 | RCV001237294; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572149 | 64572149 | | | 11:g.64572149T>C | - | | |
NM_001370259.2(MEN1):c.1487A>G (p.Lys496Arg) | 4221 | MEN1 | Uncertain significance | 1270463727 | RCV001899811|RCV003164132; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572152 | 64572152 | | | 64572152 | - | | |
NM_001370259.2(MEN1):c.1485C>T (p.Pro495=) | 4221 | MEN1 | Likely benign | 2136087952 | RCV002216818|RCV003303744; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572154 | 64572154 | | | 64572154 | - | | |
NM_001370259.2(MEN1):c.1483C>T (p.Pro495Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV002397197|RCV003095224; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572156 | 64572156 | | | 64572156 | - | | |
NM_001370259.2(MEN1):c.1482G>A (p.Pro494=) | 4221 | MEN1 | Likely benign | 773363654 | RCV000473944|RCV000571497; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572157 | 64572157 | | | NC_000011.9:g.64572157C>T | ClinGen:CA060684 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu) | 4221 | MEN1 | Uncertain significance | 1060499993 | RCV000469797|RCV002393073; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572158 | 64572158 | | | NC_000011.9:g.64572158G>A | ClinGen:CA16613663 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1479G>A (p.Pro493=) | 4221 | MEN1 | Likely benign | 546721780 | RCV000473734|RCV000571666|RCV001721504; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64572160 | 64572160 | | | NC_000011.9:g.64572160C>T | ClinGen:CA060678 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1479G>T (p.Pro493=) | 4221 | MEN1 | Likely benign | 546721780 | RCV001463618; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572160 | 64572160 | | | 11:g.64572160C>A | - | | |
NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 766604600 | RCV000525912|RCV001011715; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572161 | 64572161 | | | NC_000011.9:g.64572161G>A | ClinGen:CA060672 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1478del (p.Pro493fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002397070|RCV003095215; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572161 | 64572161 | | | 64572160 | - | | |
NM_001370259.2(MEN1):c.1477C>T (p.Pro493Ser) | 4221 | MEN1 | Uncertain significance | 1941543089 | RCV001307209|RCV002393728; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572162 | 64572162 | | | 64572162 | - | | |
NM_001370259.2(MEN1):c.1476C>T (p.Pro492=) | 4221 | MEN1 | Likely benign | 2136088299 | RCV001415917; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572163 | 64572163 | | | 64572163 | - | | |
NM_001370259.2(MEN1):c.1476C>G (p.Pro492=) | 4221 | MEN1 | Likely benign | 2136088299 | RCV001489035|RCV002396168; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572163 | 64572163 | | | 64572163 | - | | |
NM_001370259.2(MEN1):c.1475C>T (p.Pro492Leu) | 4221 | MEN1 | Uncertain significance | 1025851127 | RCV001067347|RCV002393324; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572164 | 64572164 | | | 11:g.64572164G>A | - | | |
NM_001370259.2(MEN1):c.1473G>A (p.Glu491=) | 4221 | MEN1 | Likely benign | 1555163642 | RCV000549772|RCV002395304; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572166 | 64572166 | | | 11:g.64572166C>T | ClinGen:CA475163192 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1473del (p.Glu491fs) | 4221 | MEN1 | Pathogenic | 1555163646 | RCV000632141; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572166 | 64572166 | | | NC_000011.9:g.64572166del | ClinGen:CA658797662 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter) | 4221 | MEN1 | Likely pathogenic | -1 | RCV002796919; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572168 | 64572168 | | | NC_000011.9:g.64572168C>A | - | | |
NM_001370259.2(MEN1):c.1467A>G (p.Pro489=) | 4221 | MEN1 | Likely benign | 1592632826 | RCV001451563|RCV002390838; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572172 | 64572172 | | | 11:g.64572172T>C | - | | |
NM_001370259.2(MEN1):c.1465C>T (p.Pro489Ser) | 4221 | MEN1 | Uncertain significance | 587778440 | RCV000121335|RCV000695300|RCV002390271; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572174 | 64572174 | | | 11:g.64572174G>A | ClinGen:CA009174 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1465C>A (p.Pro489Thr) | 4221 | MEN1 | Uncertain significance | 587778440 | RCV001225532; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572174 | 64572174 | | | 11:g.64572174G>T | - | | |
NM_001370259.2(MEN1):c.1464G>A (p.Lys488=) | 4221 | MEN1 | Likely benign | -1 | RCV002877434; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572175 | 64572175 | | | | - | | |
NM_001370259.2(MEN1):c.1463A>G (p.Lys488Arg) | 4221 | MEN1 | Uncertain significance | 1941545858 | RCV001054918|RCV002393273; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572176 | 64572176 | | | 11:g.64572176T>C | - | | |
NM_001370259.2(MEN1):c.1462A>C (p.Lys488Gln) | 4221 | MEN1 | Uncertain significance | 1941546101 | RCV001239842; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572177 | 64572177 | | | 11:g.64572177T>G | - | | |
NM_001370259.2(MEN1):c.1460C>T (p.Ser487Phe) | 4221 | MEN1 | Uncertain significance | 1941546652 | RCV001049884; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572179 | 64572179 | | | 11:g.64572179G>A | - | | |
NM_001370259.2(MEN1):c.1459T>C (p.Ser487Pro) | 4221 | MEN1 | Uncertain significance | 1057427859 | RCV000537416; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572180 | 64572180 | | | 11:g.64572180A>G | ClinGen:CA381179189 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1458G>A (p.Glu486=) | 4221 | MEN1 | Likely benign | 1413990417 | RCV000632154|RCV003162806; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572181 | 64572181 | | | 11:g.64572181C>T | ClinGen:CA475163248 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1458G>C (p.Glu486Asp) | 4221 | MEN1 | Uncertain significance | 1413990417 | RCV001925152; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572181 | 64572181 | | | 64572181 | - | | |
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter) | 4221 | MEN1 | Pathogenic | 2136089217 | RCV001381741; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572183 | 64572183 | | | 64572183 | - | | |
NM_001370259.2(MEN1):c.1454G>A (p.Arg485Gln) | 4221 | MEN1 | Uncertain significance | 2136089297 | RCV001364790|RCV002395819; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572185 | 64572185 | | | 64572185 | - | | |
NM_001370259.2(MEN1):c.1453C>T (p.Arg485Trp) | 4221 | MEN1 | Uncertain significance | 1254459338 | RCV000556700|RCV002395303; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572186 | 64572186 | | | NC_000011.9:g.64572186G>A | ClinGen:CA381179244 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1453C>A (p.Arg485=) | 4221 | MEN1 | Likely benign | 1254459338 | RCV001447463|RCV002396035; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572186 | 64572186 | | | 64572186 | - | | |
NM_001370259.2(MEN1):c.1451G>A (p.Arg484Gln) | 4221 | MEN1 | Uncertain significance | -1 | RCV002394619|RCV003095182; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572188 | 64572188 | | | 64572188 | - | | |
NM_001370259.2(MEN1):c.1450C>T (p.Arg484Trp) | 4221 | MEN1 | Uncertain significance | 1941548479 | RCV001223765|RCV003163744; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572189 | 64572189 | | | 11:g.64572189G>A | - | | |
NM_001370259.2(MEN1):c.1450C>G (p.Arg484Gly) | 4221 | MEN1 | Uncertain significance | -1 | RCV002302275; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572189 | 64572189 | | | 64572189 | - | | |
NM_001370259.2(MEN1):c.1448C>T (p.Pro483Leu) | 4221 | MEN1 | Uncertain significance | 1941548759 | RCV001038051; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572191 | 64572191 | | | 11:g.64572191G>A | - | | |
NM_001370259.2(MEN1):c.1447C>T (p.Pro483Ser) | 4221 | MEN1 | Uncertain significance | 1565638021 | RCV001316900; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572192 | 64572192 | | | 64572192 | - | | |
NM_001370259.2(MEN1):c.1444G>A (p.Gly482Ser) | 4221 | MEN1 | Uncertain significance | 2136089783 | RCV001370699; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572195 | 64572195 | | | 64572195 | - | | |
NM_001370259.2(MEN1):c.1443G>A (p.Arg481=) | 4221 | MEN1 | Likely benign | 864622641 | RCV001431309; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572196 | 64572196 | | | 11:g.64572196C>T | ClinGen:CA348087 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1435_1441del (p.Arg479fs) | 4221 | MEN1 | Pathogenic | 2136089949 | RCV001873118; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572198 | 64572204 | | | 64572197 | - | | |
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp) | 4221 | MEN1 | Uncertain significance | -1 | RCV003067611|RCV003384319; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572198 | 64572198 | | | NC_000011.9:g.64572198G>A | - | | |
NM_001370259.2(MEN1):c.1439G>A (p.Arg480Gln) | 4221 | MEN1 | Uncertain significance | 1450318836 | RCV001313840|RCV002395671; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572200 | 64572200 | | | 64572200 | - | | |
NM_001370259.2(MEN1):c.1438C>T (p.Arg480Trp) | 4221 | MEN1 | Uncertain significance | 1301120298 | RCV001362607; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572201 | 64572201 | | | 64572201 | - | | |
NM_001370259.2(MEN1):c.1437del (p.Arg480fs) | 4221 | MEN1 | Pathogenic | 1941550964 | RCV001216756; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572202 | 64572202 | | | 11:g.64572202_64572202del | - | | |
NM_001370259.2(MEN1):c.1437G>A (p.Arg479=) | 4221 | MEN1 | Likely benign | 1354865958 | RCV002112667|RCV002391240; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572202 | 64572202 | | | 64572202 | - | | |
NM_001370259.2(MEN1):c.1436G>C (p.Arg479Pro) | 4221 | MEN1 | Uncertain significance | 1555163716 | RCV000544433; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572203 | 64572203 | | | NC_000011.9:g.64572203C>G | ClinGen:CA381179331 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1435C>T (p.Arg479Trp) | 4221 | MEN1 | Uncertain significance | 1941551498 | RCV001214980|RCV003313192; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64572204 | 64572204 | | | 11:g.64572204G>A | - | | |
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 200280309 | RCV000234303|RCV000570713; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572205 | 64572205 | | | NC_000011.9:g.64572205G>A | ClinGen:CA060658 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1434C>G (p.Gly478=) | 4221 | MEN1 | Likely benign | 200280309 | RCV002194315; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572205 | 64572205 | | | 64572205 | - | | |
NM_001370259.2(MEN1):c.1424_1432del (p.Ala475_Glu477del) | 4221 | MEN1 | Uncertain significance | 1290740194 | RCV000801117|RCV002388478; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572207 | 64572215 | | | 11:g.64572207_64572215del | - | | |
NM_001370259.2(MEN1):c.1432G>A (p.Gly478Ser) | 4221 | MEN1 | Uncertain significance | 1941551993 | RCV001312941|RCV003284172; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572207 | 64572207 | | | 64572207 | - | | |
NM_001370259.2(MEN1):c.1431A>T (p.Glu477Asp) | 4221 | MEN1 | Uncertain significance | 863224811 | RCV000197288|RCV003343700; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572208 | 64572208 | | | NC_000011.9:g.64572208T>A | ClinGen:CA337096 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter) | 4221 | MEN1 | Pathogenic | 863224526 | RCV000198067|RCV000254822|RCV000490934; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572210 | 64572210 | | | NC_000011.9:g.64572210C>A | ClinGen:CA337615 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1429G>C (p.Glu477Gln) | 4221 | MEN1 | Uncertain significance | 863224526 | RCV000632101; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572210 | 64572210 | | | NC_000011.9:g.64572210C>G | ClinGen:CA381179374 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1428G>C (p.Arg476=) | 4221 | MEN1 | Likely benign | 1555163730 | RCV000536333|RCV002256344; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572211 | 64572211 | | | NC_000011.9:g.64572211C>G | ClinGen:CA475163376 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1428G>A (p.Arg476=) | 4221 | MEN1 | Likely benign | 1555163730 | RCV001461279; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572211 | 64572211 | | | 64572211 | - | | |
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln) | 4221 | MEN1 | Uncertain significance | 753185026 | RCV001303949; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572212 | 64572212 | | | 64572212 | - | | |
NM_001370259.2(MEN1):c.1426C>T (p.Arg476Trp) | 4221 | MEN1 | Uncertain significance | 1941554063 | RCV001316115; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572213 | 64572213 | | | 64572213 | - | | |
NM_001370259.2(MEN1):c.1424C>G (p.Ala475Gly) | 4221 | MEN1 | Uncertain significance | -1 | RCV002801474; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572215 | 64572215 | | | NC_000011.9:g.64572215G>C | - | | |
NM_001370259.2(MEN1):c.1407_1421del (p.Pro470_Glu474del) | 4221 | MEN1 | Uncertain significance | 1033303123 | RCV000544503|RCV002395302; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572218 | 64572232 | | | NC_000011.9:g.64572224_64572238del | ClinGen:CA223912041 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1421A>G (p.Glu474Gly) | 4221 | MEN1 | Uncertain significance | 2136090940 | RCV001931533; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572218 | 64572218 | | | 64572218 | - | | |
NM_001370259.2(MEN1):c.1420del (p.Glu474fs) | 4221 | MEN1 | Pathogenic | 1592633378 | RCV000821759; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572219 | 64572219 | | | 11:g.64572219_64572219del | - | | |
NM_001370259.2(MEN1):c.1419G>A (p.Glu473=) | 4221 | MEN1 | Likely benign | 2136091112 | RCV002189244; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572220 | 64572220 | | | 64572220 | - | | |
NM_001370259.2(MEN1):c.1416C>T (p.Gly472=) | 4221 | MEN1 | Likely benign | 764509990 | RCV000557060|RCV000567684; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572223 | 64572223 | | | NC_000011.9:g.64572223G>A | ClinGen:CA060641 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs) | 4221 | MEN1 | Pathogenic | 1114167536 | RCV000491271|RCV000532169; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572225 | 64572226 | | | NC_000011.9:g.64572228_64572235dup | ClinGen:CA645369556 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1414G>C (p.Gly472Arg) | 4221 | MEN1 | Uncertain significance | 1941555781 | RCV001105231|RCV001105232; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64572225 | 64572225 | | | 11:g.64572225C>G | - | | |
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs) | 4221 | MEN1 | Pathogenic | 1592633463 | RCV000813744|RCV002390646; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572226 | 64572239 | | | 11:g.64572226_64572239del | - | | |
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter) | 4221 | MEN1 | Pathogenic | 1941556077 | RCV001213347|RCV002393488; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572226 | 64572226 | | | 11:g.64572226C>T | - | | |
NM_001370259.2(MEN1):c.1413G>T (p.Trp471Cys) | 4221 | MEN1 | Uncertain significance | 1941556077 | RCV002007054; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572226 | 64572226 | | | 64572226 | - | | |
NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter) | 4221 | MEN1 | Pathogenic | 1060499991 | RCV000474300; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572227 | 64572227 | | | NC_000011.9:g.64572227C>T | ClinGen:CA16613444 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1412G>C (p.Trp471Ser) | 4221 | MEN1 | Uncertain significance | 1060499991 | RCV001237059; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572227 | 64572227 | | | 11:g.64572227C>G | - | | |
NM_001370259.2(MEN1):c.1410G>A (p.Pro470=) | 4221 | MEN1 | Likely benign | 1060503795 | RCV001491814|RCV002393174; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572229 | 64572229 | | | NC_000011.9:g.64572229C>T | ClinGen:CA16613379 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs) | 4221 | MEN1 | Likely pathogenic | -1 | RCV003470101; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572229 | 64572242 | | | | - | | |
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 750112288 | RCV000167949|RCV000569038|RCV000602813|RCV001105233; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64572230 | 64572230 | | | 11:g.64572230G>A | ClinGen:CA009169 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1408C>G (p.Pro470Ala) | 4221 | MEN1 | Uncertain significance | 1941557896 | RCV001069437; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572231 | 64572231 | | | 11:g.64572231G>C | - | | |
NM_001370259.2(MEN1):c.1393_1407del (p.Ala465_Glu469del) | 4221 | MEN1 | Uncertain significance | 1064792907 | RCV000467609; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572232 | 64572246 | | | NC_000011.9:g.64572233_64572247del | ClinGen:CA16613608 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1406A>C (p.Glu469Ala) | 4221 | MEN1 | Uncertain significance | 1565638407 | RCV000709157|RCV002388350; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572233 | 64572233 | | | NC_000011.9:g.64572233T>G | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1391_1405dup (p.Ala464_Glu468dup) | 4221 | MEN1 | Uncertain significance | 1592633626 | RCV001971565; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572233 | 64572234 | | | 64572233 | - | | |
NM_001370259.2(MEN1):c.1382_1404dup (p.Glu469fs) | 4221 | MEN1 | Pathogenic | 1555163780 | RCV000476906; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572234 | 64572235 | | | NC_000011.9:g.64572235_64572257dup | ClinGen:CA16613611 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1391_1405del (p.Ala464_Glu468del) | 4221 | MEN1 | Uncertain significance | 1592633626 | RCV000816146; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572234 | 64572248 | | | 11:g.64572234_64572248del | - | | |
NM_001370259.2(MEN1):c.1405G>C (p.Glu469Gln) | 4221 | MEN1 | Uncertain significance | 1182898331 | RCV001066383|RCV002393320; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572234 | 64572234 | | | 11:g.64572234C>G | - | | |
NM_001370259.2(MEN1):c.1405G>A (p.Glu469Lys) | 4221 | MEN1 | Uncertain significance | -1 | RCV002389367|RCV003095102; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572234 | 64572234 | | | 64572234 | - | | |
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=) | 4221 | MEN1 | Likely benign | 755734265 | RCV000565386|RCV000827543|RCV001081562; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572235 | 64572235 | | | NC_000011.9:g.64572235C>T | ClinGen:CA060631 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1394_1402dup (p.462AEA[3]) | 4221 | MEN1 | Uncertain significance | 1592633710 | RCV000823122; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572236 | 64572237 | | | 11:g.64572236_64572237insCGGCCTCGG | - | | |
NM_001370259.2(MEN1):c.1403A>G (p.Glu468Gly) | 4221 | MEN1 | Uncertain significance | 2136091899 | RCV001891575; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572236 | 64572236 | | | 64572236 | - | | |
NM_001370259.2(MEN1):c.1402G>A (p.Glu468Lys) | 4221 | MEN1 | Uncertain significance | 1471493357 | RCV001039197; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572237 | 64572237 | | | 11:g.64572237C>T | - | | |
NM_001370259.2(MEN1):c.1401C>T (p.Ala467=) | 4221 | MEN1 | Likely benign | 878855190 | RCV000230391|RCV001011382; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572238 | 64572238 | | | NC_000011.9:g.64572238G>A | ClinGen:CA6082218 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3]) | 4221 | MEN1 | Uncertain significance | 772978541 | RCV001907997|RCV002388739; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572238 | 64572239 | | | 64572238 | - | | |
NM_001370259.2(MEN1):c.1383GGCCGAGGC[1] (p.462AEA[1]) | 4221 | MEN1 | Uncertain significance | 772978541 | RCV001310009; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572239 | 64572247 | | | 64572238 | - | | |
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 779589005 | RCV000476178|RCV002393071; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572240 | 64572240 | | | NC_000011.9:g.64572240C>T | ClinGen:CA060627 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1399G>T (p.Ala467Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV003470098; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572240 | 64572240 | | | | - | | |
NM_001370259.2(MEN1):c.1398G>T (p.Glu466Asp) | 4221 | MEN1 | Uncertain significance | 990566024 | RCV000543695|RCV001764533|RCV002395301; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572241 | 64572241 | | | 11:g.64572241C>A | ClinGen:CA223912056 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1398G>A (p.Glu466=) | 4221 | MEN1 | Likely benign | 990566024 | RCV001505584|RCV002388561; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572241 | 64572241 | | | 64572241 | - | | |
NM_001370259.2(MEN1):c.1397A>T (p.Glu466Val) | 4221 | MEN1 | Uncertain significance | 1352053477 | RCV000531071|RCV001811030|RCV002395300; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572242 | 64572242 | | | 11:g.64572242T>A | ClinGen:CA381179668 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1391_1396dup (p.Ala464_Ala465dup) | 4221 | MEN1 | Uncertain significance | 1555163821 | RCV000632137; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572242 | 64572243 | | | 11:g.64572242_64572243insCGGCCG | ClinGen:CA658797664 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1396G>A (p.Glu466Lys) | 4221 | MEN1 | Uncertain significance | 1114167497 | RCV000491124|RCV001222306; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572243 | 64572243 | | | NC_000011.9:g.64572243C>T | ClinGen:CA381179679 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1393_1396del (p.Ala465fs) | 4221 | MEN1 | Pathogenic | -1 | RCV003062402; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572243 | 64572246 | | | NC_000011.9:g.64572245_64572248del | - | | |
NM_001370259.2(MEN1):c.1396G>C (p.Glu466Gln) | 4221 | MEN1 | Uncertain significance | -1 | RCV003092618; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572243 | 64572243 | | | NC_000011.9:g.64572243C>G | - | | |
NM_001370259.2(MEN1):c.1395C>T (p.Ala465=) | 4221 | MEN1 | Likely benign | 748820252 | RCV000475617|RCV000565545; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572244 | 64572244 | | | NC_000011.9:g.64572244G>A | ClinGen:CA060618 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1395C>G (p.Ala465=) | 4221 | MEN1 | Likely benign | 748820252 | RCV000562592|RCV002060414; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572244 | 64572244 | | | NC_000011.9:g.64572244G>C | ClinGen:CA475163515 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1393del (p.Ala465fs) | 4221 | MEN1 | Pathogenic | 2136092552 | RCV001910810; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572246 | 64572246 | | | 64572245 | - | | |
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=) | 4221 | MEN1 | Likely benign | 754445482 | RCV000227483|RCV001011304|RCV002465598; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 11 | 64572247 | 64572247 | | | 11:g.64572247C>T | ClinGen:CA060614 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1391dup (p.Ala465fs) | 4221 | MEN1 | Pathogenic | 2136092746 | RCV001386330; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572247 | 64572248 | | | 64572247 | - | | |
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs) | 4221 | MEN1 | Pathogenic | 2136092832 | RCV001383288|RCV002246367|RCV002384547; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572247 | 64572248 | | | 64572247 | - | | |
NM_001370259.2(MEN1):c.1392G>C (p.Ala464=) | 4221 | MEN1 | Likely benign | 754445482 | RCV001407863; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572247 | 64572247 | | | 64572247 | - | | |
NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002811383; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572247 | 64572248 | | | NC_000011.9:g.64572259_64572260insGGCCTCGGCCTCT | - | | |
NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 778728934 | RCV000459240|RCV001810944|RCV002393072; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572248 | 64572248 | | | NC_000011.9:g.64572248G>A | ClinGen:CA060593 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1391C>A (p.Ala464Glu) | 4221 | MEN1 | Uncertain significance | -1 | RCV003054070|RCV003170926; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572248 | 64572248 | | | NC_000011.9:g.64572248G>T | - | | |
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs) | 4221 | MEN1 | Pathogenic | 1114167531 | RCV000491754|RCV000632114; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572249 | 64572250 | | | NC_000011.9:g.64572256_64572263dup | ClinGen:CA645369558 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1390G>C (p.Ala464Pro) | 4221 | MEN1 | Uncertain significance | 2136092866 | RCV001951736; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572249 | 64572249 | | | 64572249 | - | | |
NM_001370259.2(MEN1):c.1390G>A (p.Ala464Thr) | 4221 | MEN1 | Uncertain significance | 2136092866 | RCV001978494; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572249 | 64572249 | | | 64572249 | - | | |
NM_001370259.2(MEN1):c.1389G>C (p.Glu463Asp) | 4221 | MEN1 | Uncertain significance | 1555163863 | RCV000555201; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572250 | 64572250 | | | 11:g.64572250C>G | ClinGen:CA381179724 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1388A>C (p.Glu463Ala) | 4221 | MEN1 | Uncertain significance | -1 | RCV002290207|RCV002391402; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572251 | 64572251 | | | 64572251 | - | | |
NM_001370259.2(MEN1):c.1387G>C (p.Glu463Gln) | 4221 | MEN1 | Uncertain significance | 748102589 | RCV001011215|RCV001049805; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572252 | 64572252 | | | 11:g.64572252C>G | - | | |
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys) | 4221 | MEN1 | Uncertain significance | 748102589 | RCV001222478|RCV002393540; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572252 | 64572252 | | | 11:g.64572252C>T | - | | |
NM_001370259.2(MEN1):c.1386C>G (p.Ala462=) | 4221 | MEN1 | Likely benign | 771827808 | RCV001456315|RCV002392719; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572253 | 64572253 | | | NC_000011.9:g.64572253G>C | ClinGen:CA10582928 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1386C>T (p.Ala462=) | 4221 | MEN1 | Likely benign | 771827808 | RCV000466838|RCV002393175; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572253 | 64572253 | | | NC_000011.9:g.64572253G>A | ClinGen:CA060584 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1386C>A (p.Ala462=) | 4221 | MEN1 | Likely benign | 771827808 | RCV000542606|RCV002395299; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572253 | 64572253 | | | NC_000011.9:g.64572253G>T | ClinGen:CA060579 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1384G>C (p.Ala462Pro) | 4221 | MEN1 | Uncertain significance | 1941565557 | RCV001062954; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572255 | 64572255 | | | 11:g.64572255C>G | - | | |
NM_001370259.2(MEN1):c.1375_1382del (p.Ser459fs) | 4221 | MEN1 | Pathogenic | 1555163883 | RCV000524622; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572257 | 64572264 | | | NC_000011.9:g.64572257_64572264del | ClinGen:CA658656131 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1381G>C (p.Glu461Gln) | 4221 | MEN1 | Uncertain significance | 1941566282 | RCV001315782; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572258 | 64572258 | | | 64572258 | - | | |
NM_001370259.2(MEN1):c.1380A>G (p.Arg460=) | 4221 | MEN1 | Likely benign | 2136093385 | RCV001401510; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572259 | 64572259 | | | 64572259 | - | | |
NM_001370259.2(MEN1):c.1379G>A (p.Arg460Gln) | 4221 | MEN1 | Uncertain significance | 200035619 | RCV000034783|RCV000793682|RCV003343606; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572260 | 64572260 | | | NC_000011.9:g.64572260C>T | ClinGen:CA009162 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro) | 4221 | MEN1 | Uncertain significance | 200035619 | RCV000456169|RCV003168722; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572260 | 64572260 | | | NC_000011.9:g.64572260C>G | ClinGen:CA16613450 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) | 4221 | MEN1 | Pathogenic | 104894267 | RCV000018172|RCV000129526|RCV000182421; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64572261 | 64572261 | | | 11:g.64572261G>A | ClinGen:CA009155,OMIM:613733.0016 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1378C>A (p.Arg460=) | 4221 | MEN1 | Likely benign | 104894267 | RCV000632165|RCV003302992; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572261 | 64572261 | | | NC_000011.9:g.64572261G>T | ClinGen:CA475163620 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1378C>G (p.Arg460Gly) | 4221 | MEN1 | Uncertain significance | -1 | RCV003110830; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572261 | 64572261 | | | NC_000011.9:g.64572261G>C | - | | |
NM_001370259.2(MEN1):c.1377C>T (p.Ser459=) | 4221 | MEN1 | Likely benign | 2136093597 | RCV002089792; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572262 | 64572262 | | | 64572262 | - | | |
NM_001370259.2(MEN1):c.1374G>C (p.Val458=) | 4221 | MEN1 | Likely benign | 771297499 | RCV001399223|RCV002384575; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572265 | 64572265 | | | 64572265 | - | | |
NM_001370259.2(MEN1):c.1374G>A (p.Val458=) | 4221 | MEN1 | Likely benign | 771297499 | RCV002206029; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572265 | 64572265 | | | 64572265 | - | | |
NM_001370259.2(MEN1):c.1370T>G (p.Ile457Arg) | 4221 | MEN1 | Uncertain significance | 1277747983 | RCV001034908; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572269 | 64572269 | | | 11:g.64572269A>C | - | | |
NM_001370259.2(MEN1):c.1369A>T (p.Ile457Leu) | 4221 | MEN1 | Uncertain significance | 1021589871 | RCV002040424; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572270 | 64572270 | | | 64572270 | - | | |
NM_001370259.2(MEN1):c.1369A>C (p.Ile457Leu) | 4221 | MEN1 | Uncertain significance | -1 | RCV002810274; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572270 | 64572270 | | | NC_000011.9:g.64572270T>G | - | | |
NC_000011.10:g.64804807_64804818del | 4221 | MEN1 | Pathogenic | 760199250 | RCV000018188; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572272 | 64572283 | | | | OMIM:613733.0032 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1367G>A (p.Arg456His) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 372468697 | RCV000632093|RCV002385985|RCV003237966; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64572272 | 64572272 | | | NC_000011.9:g.64572272C>T | ClinGen:CA060552 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1366C>T (p.Arg456Cys) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 765306552 | RCV001051925|RCV002379553; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572273 | 64572273 | | | 11:g.64572273G>A | - | | |
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV003470094; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572273 | 64572273 | | | | - | | |
NM_001370259.2(MEN1):c.1365G>A (p.Val455=) | 4221 | MEN1 | Likely benign | -1 | RCV002705764|RCV003382923; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572274 | 64572274 | | | | - | | |
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 878855189 | RCV000230771|RCV001589199; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64572275 | 64572275 | | | NC_000011.9:g.64572275A>T | ClinGen:CA10582929 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1363G>A (p.Val455Met) | 4221 | MEN1 | Uncertain significance | 1941570102 | RCV001246568; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572276 | 64572276 | | | 11:g.64572276C>T | - | | |
NM_001370259.2(MEN1):c.1351-3_1359del | 4221 | MEN1 | Likely pathogenic | 2136094253 | RCV001377991|RCV001810728; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64572280 | 64572291 | | | 64572279 | - | | |
NM_001370259.2(MEN1):c.1356dup (p.Gln453fs) | 4221 | MEN1 | Pathogenic | 2136094331 | RCV001386127; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572282 | 64572283 | | | 64572282 | - | | |
NM_001370259.2(MEN1):c.1356G>T (p.Arg452=) | 4221 | MEN1 | Likely benign | 1180957953 | RCV000874889|RCV002381998; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572283 | 64572283 | | | 11:g.64572283C>A | - | | |
NM_001370259.2(MEN1):c.1356G>A (p.Arg452=) | 4221 | MEN1 | Likely benign | 1180957953 | RCV001505426; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572283 | 64572283 | | | 11:g.64572283C>T | - | | |
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 775922507 | RCV000571203|RCV001377802; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572284 | 64572284 | | | NC_000011.9:g.64572284C>G | ClinGen:CA381179936 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1355G>A (p.Arg452Gln) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 775922507 | RCV000698881|RCV002386229; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572284 | 64572284 | | | NC_000011.9:g.64572284C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 863224810 | RCV000200502|RCV000491768; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572285 | 64572285 | | | NC_000011.9:g.64572285G>A | ClinGen:CA339343 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1354C>A (p.Arg452=) | 4221 | MEN1 | Likely benign | -1 | RCV002617958; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572285 | 64572285 | | | | - | | |
NM_001370259.2(MEN1):c.1353G>A (p.Val451=) | 4221 | MEN1 | Likely benign | -1 | RCV003037786; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572286 | 64572286 | | | | - | | |
NM_001370259.2(MEN1):c.1351-1G>C | 4221 | MEN1 | Pathogenic | 794728629 | RCV000540660; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572289 | 64572289 | | | 11:g.64572289C>G | ClinGen:CA009149 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1351-1G>A | 4221 | MEN1 | Pathogenic | 794728629 | RCV000227993; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572289 | 64572289 | | | NC_000011.9:g.64572289C>T | ClinGen:CA10582930 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1351-1G>T | 4221 | MEN1 | Pathogenic | 794728629 | RCV001390118; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572289 | 64572289 | | | 64572289 | - | | |
NM_001370259.2(MEN1):c.1351-2A>G | 4221 | MEN1 | Pathogenic | 1060499986 | RCV000457794; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572290 | 64572290 | | | NC_000011.9:g.64572290T>C | ClinGen:CA16613456 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1351-4C>T | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 764408631 | RCV000571993|RCV000679248|RCV001105234|RCV001083658|RCV002267931; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64572292 | 64572292 | | | NC_000011.9:g.64572292G>A | ClinGen:CA060500 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1351-6G>A | 4221 | MEN1 | Likely benign | 1555164004 | RCV000553033; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572294 | 64572294 | | | 11:g.64572294C>T | ClinGen:CA658656139 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1351-7G>A | 4221 | MEN1 | Uncertain significance | 1941572921 | RCV001309308; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572295 | 64572295 | | | 64572295 | - | | |
NM_001370259.2(MEN1):c.1351-8T>G | 4221 | MEN1 | Likely benign | 751932519 | RCV000198633; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572296 | 64572296 | | | NC_000011.9:g.64572296A>C | ClinGen:CA338075 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1351-8T>C | 4221 | MEN1 | Likely benign | 751932519 | RCV001397097; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572296 | 64572296 | | | 64572296 | - | | |
NM_001370259.2(MEN1):c.1351-9C>G | 4221 | MEN1 | Uncertain significance | 1592634740 | RCV000801688; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572297 | 64572297 | | | 11:g.64572297G>C | - | | |
NM_001370259.2(MEN1):c.1351-10A>G | 4221 | MEN1 | Likely benign | 757569943 | RCV000528351; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572298 | 64572298 | | | 11:g.64572298T>C | ClinGen:CA060446 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1351-10del | 4221 | MEN1 | Likely benign | -1 | RCV002819530; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572298 | 64572298 | | | NC_000011.9:g.64572298del | - | | |
NM_001370259.2(MEN1):c.1351-11C>T | 4221 | MEN1 | Likely benign | 1941574613 | RCV002204302; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572299 | 64572299 | | | 64572299 | - | | |
NM_001370259.2(MEN1):c.1351-11C>G | 4221 | MEN1 | Likely benign | -1 | RCV002716334; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572299 | 64572299 | | | NC_000011.9:g.64572299G>C | - | | |
NM_001370259.2(MEN1):c.1351-12C>T | 4221 | MEN1 | Likely benign | 2136094913 | RCV002160052; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572300 | 64572300 | | | 64572300 | - | | |
NM_001370259.2(MEN1):c.1351-35ACCTTGCTCTC[3] | 4221 | MEN1 | Likely benign | 753219137 | RCV002123136; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572301 | 64572302 | | | 64572301 | - | | |
NM_001370259.2(MEN1):c.1351-13C>T | 4221 | MEN1 | Likely benign | 2136094943 | RCV002197740; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572301 | 64572301 | | | 64572301 | - | | |
NM_001370259.2(MEN1):c.1351-24_1351-14del | 4221 | MEN1 | Likely benign | 753219137 | RCV002218121; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572302 | 64572312 | | | 64572301 | - | | |
NM_001370259.2(MEN1):c.1351-15T>G | 4221 | MEN1 | Likely benign | 2136095005 | RCV002167129; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572303 | 64572303 | | | 64572303 | - | | |
NM_001370259.2(MEN1):c.1351-16C>G | 4221 | MEN1 | Likely benign | 766052368 | RCV002144400; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572304 | 64572304 | | | 64572304 | - | | |
NM_001370259.2(MEN1):c.1351-16C>T | 4221 | MEN1 | Likely benign | 766052368 | RCV002107896; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572304 | 64572304 | | | 64572304 | - | | |
NM_001370259.2(MEN1):c.1277_1350+28del | 4221 | MEN1 | Likely pathogenic | 1941598294 | RCV001047541; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572478 | 64572579 | | | 11:g.64572478_64572576del | - | | |
NM_001370259.2(MEN1):c.1350+19G>A | 4221 | MEN1 | Likely benign | 1331281610 | RCV002111497; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572487 | 64572487 | | | 64572487 | - | | |
NM_001370259.2(MEN1):c.1350+18A>G | 4221 | MEN1 | Likely benign | 1190733461 | RCV002170099; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572488 | 64572488 | | | 64572488 | - | | |
NM_001370259.2(MEN1):c.1350+12C>A | 4221 | MEN1 | Likely benign | 1186166424 | RCV001994764; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572494 | 64572494 | | | 64572494 | - | | |
NM_001370259.2(MEN1):c.1350+1_1350+11del | 4221 | MEN1 | Pathogenic | 764570645 | RCV000182441|RCV000632087|RCV002381592; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572495 | 64572505 | | | NC_000011.9:g.64572505_64572515del | ClinGen:CA017625 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1350+7G>A | 4221 | MEN1 | Likely benign | 2136099113 | RCV001490747; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572499 | 64572499 | | | 64572499 | - | | |
NM_001370259.2(MEN1):c.1350+6G>A | 4221 | MEN1 | Likely benign | 746077651 | RCV000687059; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572500 | 64572500 | | | 11:g.64572500C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1350+4_1350+6del | 4221 | MEN1 | Uncertain significance | 1565639798 | RCV000689757; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572500 | 64572502 | | | 11:g.64572500_64572502del | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1350+5G>A | 4221 | MEN1 | Uncertain significance | 1565639811 | RCV000701682; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572501 | 64572501 | | | NC_000011.9:g.64572501C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1350+5G>T | 4221 | MEN1 | Uncertain significance | 1565639811 | RCV001233104; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572501 | 64572501 | | | 11:g.64572501C>A | - | | |
NM_001370259.2(MEN1):c.1350+2T>C | 4221 | MEN1 | Likely pathogenic | 1555164115 | RCV000547647; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572504 | 64572504 | | | 11:g.64572504A>G | ClinGen:CA381180004 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1350+1G>C | 4221 | MEN1 | Pathogenic | 863223311 | RCV002245308; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572505 | 64572505 | | | 64572505 | - | | |
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1592636161 | RCV001011030|RCV001350334|RCV002236080; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64572506 | 64572506 | | | 11:g.64572506C>G | - | | |
NM_001370259.2(MEN1):c.1350G>A (p.Gln450=) | 4221 | MEN1 | Uncertain significance | 1592636161 | RCV001369238; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572506 | 64572506 | | | 64572506 | - | | |
NM_001370259.2(MEN1):c.1346del (p.Gly449fs) | 4221 | MEN1 | Pathogenic | 1941603016 | RCV001239413; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572510 | 64572510 | | | 11:g.64572510_64572510del | - | | |
NM_001370259.2(MEN1):c.1344G>A (p.Glu448=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 371339952 | RCV001298168|RCV002379999; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572512 | 64572512 | | | 64572512 | - | | |
NM_001370259.2(MEN1):c.1344G>C (p.Glu448Asp) | 4221 | MEN1 | Uncertain significance | 371339952 | RCV001984224; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572512 | 64572512 | | | 64572512 | - | | |
NM_001370259.2(MEN1):c.1344G>T (p.Glu448Asp) | 4221 | MEN1 | Uncertain significance | -1 | RCV003130896; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572512 | 64572512 | | | NC_000011.9:g.64572512C>A | - | | |
NM_001370259.2(MEN1):c.1341T>G (p.Phe447Leu) | 4221 | MEN1 | Uncertain significance | 1325598637 | RCV000710034|RCV001759431|RCV001868321; | N | MONDO:MONDO:0015027,MedGen:C4551961, Orphanet:99879|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572515 | 64572515 | | | NC_000011.9:g.64572515A>C | - | | |
NM_001370259.2(MEN1):c.1341T>C (p.Phe447=) | 4221 | MEN1 | Likely benign | 1325598637 | RCV001490015|RCV002384805; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572515 | 64572515 | | | 64572515 | - | | |
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser) | 4221 | MEN1 | Likely pathogenic | 1941604532 | RCV001238238; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572516 | 64572516 | | | 11:g.64572516A>G | - | | |
NM_001370259.2(MEN1):c.1337G>A (p.Arg446His) | 4221 | MEN1 | Uncertain significance | 1555164143 | RCV000632094; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572519 | 64572519 | | | NC_000011.9:g.64572519C>T | ClinGen:CA381180095 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1336C>T (p.Arg446Cys) | 4221 | MEN1 | Uncertain significance | 1592636375 | RCV000803684; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572520 | 64572520 | | | 11:g.64572520G>A | - | | |
NM_001370259.2(MEN1):c.1336C>A (p.Arg446Ser) | 4221 | MEN1 | Uncertain significance | 1592636375 | RCV002039999; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572520 | 64572520 | | | 64572520 | - | | |
NM_001370259.2(MEN1):c.1334del (p.Gly445fs) | 4221 | MEN1 | Pathogenic | 1565640081 | RCV000705923; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572522 | 64572522 | | | NC_000011.9:g.64572523del | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1333G>T (p.Gly445Cys) | 4221 | MEN1 | Uncertain significance | 1555164153 | RCV000632092; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572523 | 64572523 | | | 11:g.64572523C>A | ClinGen:CA381180110 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1330C>G (p.Leu444Val) | 4221 | MEN1 | Uncertain significance | 2136100021 | RCV001969960; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572526 | 64572526 | | | 64572526 | - | | |
NM_001370259.2(MEN1):c.1329C>T (p.Ser443=) | 4221 | MEN1 | Likely benign | 2136100094 | RCV002098762|RCV002382353; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572527 | 64572527 | | | 64572527 | - | | |
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr) | 4221 | MEN1 | Likely pathogenic | 1060499981 | RCV000467767; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572528 | 64572528 | | | NC_000011.9:g.64572528G>T | ClinGen:CA16613613 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter) | 4221 | MEN1 | Pathogenic | 794728654 | RCV000182456|RCV000812559; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572532 | 64572532 | | | NC_000011.9:g.64572532G>A | ClinGen:CA009136 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.1323G>A (p.Val441=) | 4221 | MEN1 | Likely benign | 1941607604 | RCV001459350|RCV002384725; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572533 | 64572533 | | | 64572533 | - | | |
NM_001370259.2(MEN1):c.1317_1320del (p.Phe439fs) | 4221 | MEN1 | Pathogenic | 1941607846 | RCV001204903; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572536 | 64572539 | | | 11:g.64572536_64572539del | - | | |
NM_001370259.2(MEN1):c.1314C>G (p.Thr438=) | 4221 | MEN1 | Likely benign | 897481809 | RCV000462500|RCV002383842; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572542 | 64572542 | | | NC_000011.9:g.64572542G>C | ClinGen:CA16613458 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1314C>T (p.Thr438=) | 4221 | MEN1 | Likely benign | 897481809 | RCV000975483|RCV003169491; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572542 | 64572542 | | | 11:g.64572542G>A | - | | |
NM_001370259.2(MEN1):c.1313C>G (p.Thr438Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV002639023; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572543 | 64572543 | | | NC_000011.9:g.64572543G>C | - | | |
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs) | 4221 | MEN1 | Likely pathogenic | 1555164184 | RCV000662929; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572544 | 64572545 | | | 11:g.64572544_64572545insG | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1311del (p.Thr438fs) | 4221 | MEN1 | Pathogenic | 1555164184 | RCV000806153; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572545 | 64572545 | | | 11:g.64572545_64572545del | - | | |
NM_001370259.2(MEN1):c.1310C>T (p.Ala437Val) | 4221 | MEN1 | Uncertain significance | 1555164188 | RCV000563093|RCV001344201; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572546 | 64572546 | | | NC_000011.9:g.64572546G>A | ClinGen:CA381180212 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 398124435 | RCV000318762|RCV000491855|RCV000790656; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64572548 | 64572548 | | | NC_000011.9:g.64572548C>A | ClinGen:CA009127 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter) | 4221 | MEN1 | Pathogenic | 104894260 | RCV000018167|RCV000518947; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64572549 | 64572549 | | | 11:g.64572549C>T | ClinGen:CA009122,OMIM:613733.0011 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 104894259 | RCV000018166|RCV000255755; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64572550 | 64572550 | | | 11:g.64572550A>T | ClinGen:CA009116,UniProtKB:O00255#VAR_005464,OMIM:613733.0010 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 104894259 | RCV000491105|RCV001390119; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572550 | 64572550 | | | 11:g.64572550A>G | ClinGen:CA223912292 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1305_1306del (p.Trp436fs) | 4221 | MEN1 | Pathogenic | -1 | RCV003005580; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572550 | 64572551 | | | NC_000011.9:g.64572550_64572551del | - | | |
NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del) | 4221 | MEN1 | Uncertain significance | 1555164218 | RCV000662920; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572554 | 64572562 | | | 11:g.64572554_64572562del | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1300G>A (p.Val434Met) | 4221 | MEN1 | Uncertain significance | 767854775 | RCV001235388|RCV003166453; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572556 | 64572556 | | | 11:g.64572556C>T | - | | |
NM_001370259.2(MEN1):c.1299T>C (p.His433=) | 4221 | MEN1 | Benign | 540012 | RCV000153486|RCV000860148; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572557 | 64572557 | | | 11:g.64572557A>G | ClinGen:CA060368 | CN169374 not specified; | |
NM_001370259.2(MEN1):c.1299= (p.His433=) | 4221 | MEN1 | Benign | 540012 | RCV001082521|RCV001812213; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64572557 | 64572557 | | | NC_000011.9:g.64572557%3D | ClinGen:CA349916 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1297C>T (p.His433Tyr) | 4221 | MEN1 | Uncertain significance | 1941611706 | RCV001037159; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572559 | 64572559 | | | 11:g.64572559G>A | - | | |
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 138770431 | RCV000030197|RCV000353672|RCV000379404|RCV000492032|RCV000679247; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64572560 | 64572560 | | | 11:g.64572560C>T | ClinGen:CA009109 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1287G>T (p.Thr429=) | 4221 | MEN1 | Likely benign | 376598079 | RCV000232959|RCV002379027; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572569 | 64572569 | | | NC_000011.9:g.64572569C>A | ClinGen:CA060358 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1287G>A (p.Thr429=) | 4221 | MEN1 | Likely benign | 376598079 | RCV000535325|RCV001010767; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572569 | 64572569 | | | 11:g.64572569C>T | ClinGen:CA060353 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1286C>T (p.Thr429Met) | 4221 | MEN1 | Uncertain significance | 757803925 | RCV001971785|RCV002386848; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572570 | 64572570 | | | 64572570 | - | | |
NM_001370259.2(MEN1):c.1279_1282dup (p.Pro428fs) | 4221 | MEN1 | Pathogenic | 2136101131 | RCV001812583|RCV001869478; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572573 | 64572574 | | | 64572573 | - | | |
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg) | 4221 | MEN1 | Likely pathogenic | 1114167528 | RCV000491702|RCV001002226; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572575 | 64572575 | | | 11:g.64572575A>T | ClinGen:CA381180331 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1555164245 | RCV000527282|RCV002377016; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572577 | 64572577 | | | 11:g.64572577T>G | ClinGen:CA381180344 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1271AGG[1] (p.Glu425del) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 2136101303 | RCV001379321|RCV002225831; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64572580 | 64572582 | | | 64572579 | - | | |
NM_001370259.2(MEN1):c.1275G>A (p.Glu425=) | 4221 | MEN1 | Likely benign | 1236745071 | RCV002170053|RCV003161362; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572581 | 64572581 | | | 64572581 | - | | |
NM_001370259.2(MEN1):c.1270G>A (p.Glu424Lys) | 4221 | MEN1 | Uncertain significance | 1114167477 | RCV000491730|RCV001344440; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572586 | 64572586 | | | NC_000011.9:g.64572586C>T | ClinGen:CA381180402 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter) | 4221 | MEN1 | Pathogenic | -1 | RCV002481160|RCV002574715; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572588 | 64572588 | | | NC_000011.9:g.64572588C>T | - | | |
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg) | 4221 | MEN1 | Likely pathogenic | 1555164270 | RCV000547991|RCV002377015; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572589 | 64572589 | | | 11:g.64572589A>G | ClinGen:CA381180426 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1266del (p.Lys422fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 2136101566 | RCV001972735|RCV002256873; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572590 | 64572590 | | | 64572589 | - | | |
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 386134249 | RCV000030196|RCV000182419|RCV000491986; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572594 | 64572594 | | | NC_000011.9:g.64572594C>T | ClinGen:CA009105,UniProtKB:O00255#VAR_039638 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1257C>T (p.Gly419=) | 4221 | MEN1 | Uncertain significance | -1 | RCV002866559; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572599 | 64572599 | | | | - | | |
NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs) | 4221 | MEN1 | Pathogenic | 1592637081 | RCV000821590; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572600 | 64572603 | | | 11:g.64572600_64572603del | - | | |
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val) | 4221 | MEN1 | Likely pathogenic | 1941615895 | RCV001036366; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572600 | 64572600 | | | 11:g.64572600C>A | - | | |
NM_001370259.2(MEN1):c.1255G>A (p.Gly419Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV003090654|RCV003161721|RCV003410069; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64572601 | 64572601 | | | NC_000011.9:g.64572601C>T | - | | |
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) | 4221 | MEN1 | Benign | 2071313 | RCV000082332|RCV000318798|RCV000491125|RCV000999731|RCV001711261; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64572602 | 64572602 | | | 11:g.64572602G>A | ClinGen:CA009098 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1114167542 | RCV000491544|RCV003476178; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572602 | 64572609 | | | 11:g.64572602_64572609del | ClinGen:CA645369505 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1254C>G (p.Asp418Glu) | 4221 | MEN1 | Uncertain significance | 2071313 | RCV000819849; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572602 | 64572602 | | | 11:g.64572602G>C | - | | |
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) | 4221 | MEN1 | Pathogenic | 104894264 | RCV000018183|RCV000490854|RCV001269702; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64572604 | 64572604 | | | 11:g.64572604C>T | ClinGen:CA009084,UniProtKB:O00255#VAR_005461,OMIM:613733.0027 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His) | 4221 | MEN1 | Pathogenic | 104894264 | RCV000182455|RCV001044491; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572604 | 64572604 | | | NC_000011.9:g.64572604C>G | ClinGen:CA009091 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.1251C>T (p.Tyr417=) | 4221 | MEN1 | Likely benign | 751481164 | RCV000632167|RCV002413804; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572605 | 64572605 | | | 11:g.64572605G>A | ClinGen:CA060323 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1248C>T (p.Phe416=) | 4221 | MEN1 | Likely benign | -1 | RCV002871177; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572608 | 64572608 | | | | - | | |
NM_001370259.2(MEN1):c.1244G>C (p.Arg415Pro) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1446518998 | RCV000632109|RCV003148811; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64572612 | 64572612 | | | NC_000011.9:g.64572612C>G | ClinGen:CA381180568 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1244G>A (p.Arg415Gln) | 4221 | MEN1 | Uncertain significance | 1446518998 | RCV000632082|RCV003162804; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572612 | 64572612 | | | 11:g.64572612C>T | ClinGen:CA381180571 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter) | 4221 | MEN1 | Pathogenic | 1060499974 | RCV000456454|RCV000486722|RCV000491295; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572613 | 64572613 | | | NC_000011.9:g.64572613G>A | ClinGen:CA16613380 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1234C>T (p.His412Tyr) | 4221 | MEN1 | Uncertain significance | -1 | RCV002662920; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572622 | 64572622 | | | NC_000011.9:g.64572622G>A | - | | |
NM_001370259.2(MEN1):c.1234del (p.His412fs) | 4221 | MEN1 | Pathogenic | -1 | RCV003029269; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572622 | 64572622 | | | NC_000011.9:g.64572624del | - | | |
NM_001370259.2(MEN1):c.1233C>T (p.Ala411=) | 4221 | MEN1 | Likely benign | -1 | RCV003045673|RCV003308440; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572623 | 64572623 | | | | - | | |
NM_001370259.2(MEN1):c.1231G>T (p.Ala411Ser) | 4221 | MEN1 | Uncertain significance | 757179911 | RCV000196723|RCV002363020|RCV003151755; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64572625 | 64572625 | | | NC_000011.9:g.64572625C>A | ClinGen:CA336654 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1231G>A (p.Ala411Thr) | 4221 | MEN1 | Uncertain significance | 757179911 | RCV000559474|RCV003159746; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MeSH:D030342,MedGen:C0950123 | 11 | 64572625 | 64572625 | | | NC_000011.9:g.64572625C>T | ClinGen:CA060315 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro) | 4221 | MEN1 | Likely pathogenic | -1 | RCV003062404; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572625 | 64572625 | | | NC_000011.9:g.64572625C>G | - | | |
NM_001370259.2(MEN1):c.1230C>T (p.Phe410=) | 4221 | MEN1 | Likely benign | 878855188 | RCV000227264|RCV000566957; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572626 | 64572626 | | | NC_000011.9:g.64572626G>A | ClinGen:CA10582931 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1230del (p.Phe410fs) | 4221 | MEN1 | Likely pathogenic | -1 | RCV003233049; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572626 | 64572626 | | | | - | | |
NM_001370259.2(MEN1):c.1226G>A (p.Cys409Tyr) | 4221 | MEN1 | Uncertain significance | 1060499988 | RCV000466185|RCV001010429; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572630 | 64572630 | | | NC_000011.9:g.64572630C>T | ClinGen:CA16613671 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs) | 4221 | MEN1 | Pathogenic | 1114167524 | RCV000491151|RCV000546948; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572631 | 64572632 | | | 11:g.64572631_64572632insGGAC | ClinGen:CA645369506 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1222G>C (p.Glu408Gln) | 4221 | MEN1 | Uncertain significance | 1941620661 | RCV001211418; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572634 | 64572634 | | | 11:g.64572634C>G | - | | |
NM_001370259.2(MEN1):c.1221dup (p.Glu408Ter) | 4221 | MEN1 | Pathogenic | 2136102861 | RCV001948215; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572634 | 64572635 | | | 64572634 | - | | |
NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs) | 4221 | MEN1 | Pathogenic | 1592637440 | RCV000806985|RCV003148867; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64572635 | 64572636 | | | 11:g.64572635_64572636del | - | | |
NM_001370259.2(MEN1):c.1219_1220del (p.Asp406_Pro407insTer) | 4221 | MEN1 | Pathogenic | 1592637455 | RCV000803877; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572636 | 64572637 | | | 11:g.64572636_64572637del | - | | |
NM_001370259.2(MEN1):c.1219C>G (p.Pro407Ala) | 4221 | MEN1 | Uncertain significance | 1060499985 | RCV000457365|RCV003380567; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572637 | 64572637 | | | NC_000011.9:g.64572637G>C | ClinGen:CA16613461 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs) | 4221 | MEN1 | Pathogenic | 1114167513 | RCV000491633|RCV001390120; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572641 | 64572642 | | | 11:g.64572641_64572642insT | ClinGen:CA645369507 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1215G>A (p.Gln405=) | 4221 | MEN1 | Uncertain significance | 1289898067 | RCV001053857; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572641 | 64572641 | | | 11:g.64572641C>T | - | | |
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter) | 4221 | MEN1 | Pathogenic | 864622615 | RCV000205609|RCV000256143|RCV000506315|RCV002354582; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572643 | 64572643 | | | NC_000011.9:g.64572643G>A | ClinGen:CA349734 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=) | 4221 | MEN1 | Benign/Likely benign | 577268289 | RCV000632166|RCV001010344|RCV003233032; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540 | 11 | 64572644 | 64572644 | | | NC_000011.9:g.64572644G>C | ClinGen:CA060309 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1212C>T (p.Leu404=) | 4221 | MEN1 | Likely benign | -1 | RCV002871718; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572644 | 64572644 | | | | - | | |
NM_001370259.2(MEN1):c.1211T>A (p.Leu404His) | 4221 | MEN1 | Uncertain significance | 1941623255 | RCV001215096; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572645 | 64572645 | | | 11:g.64572645A>T | - | | |
NM_001370259.2(MEN1):c.1210C>T (p.Leu404Phe) | 4221 | MEN1 | Uncertain significance | 1060499989 | RCV000472387; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572646 | 64572646 | | | NC_000011.9:g.64572646G>A | ClinGen:CA16613462 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1207G>A (p.Ala403Thr) | 4221 | MEN1 | Uncertain significance | 746135199 | RCV000632136|RCV002343215; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572649 | 64572649 | | | NC_000011.9:g.64572649C>T | ClinGen:CA060300 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1206C>T (p.Ser402=) | 4221 | MEN1 | Likely benign | 770037856 | RCV000460839|RCV001010304; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572650 | 64572650 | | | NC_000011.9:g.64572650G>A | ClinGen:CA060291 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1206C>A (p.Ser402=) | 4221 | MEN1 | Likely benign | 770037856 | RCV000632148|RCV001080450|RCV002343216; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572650 | 64572650 | | | 11:g.64572650G>T | ClinGen:CA060283 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1206del (p.Ala403fs) | 4221 | MEN1 | Pathogenic | 1941624571 | RCV001227911; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572650 | 64572650 | | | 11:g.64572650_64572650del | - | | |
NM_001370259.2(MEN1):c.1203T>C (p.Gly401=) | 4221 | MEN1 | Likely benign | 878855187 | RCV000233483|RCV003165649; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572653 | 64572653 | | | NC_000011.9:g.64572653A>G | ClinGen:CA10582932 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val) | 4221 | MEN1 | Uncertain significance | 878855186 | RCV000229429|RCV002347916; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572654 | 64572654 | | | NC_000011.9:g.64572654C>A | ClinGen:CA10582933 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1202del (p.Gly401fs) | 4221 | MEN1 | Pathogenic | 1941625647 | RCV001037823|RCV002346250; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572654 | 64572654 | | | 11:g.64572654_64572654del | - | | |
NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter) | 4221 | MEN1 | Pathogenic | 886039419 | RCV000255350|RCV001198769; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572658 | 64572658 | | | 11:g.64572658G>A | ClinGen:CA10588528 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.1198C>A (p.Gln400Lys) | 4221 | MEN1 | Uncertain significance | 886039419 | RCV001339158; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572658 | 64572658 | | | 64572658 | - | | |
NM_001370259.2(MEN1):c.1195A>G (p.Ser399Gly) | 4221 | MEN1 | Uncertain significance | 1941626700 | RCV001308298|RCV002341617; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572661 | 64572661 | | | 64572661 | - | | |
NM_001370259.2(MEN1):c.1193dup (p.Ser399fs) | 4221 | MEN1 | Pathogenic | 1555164430 | RCV000632080; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572662 | 64572663 | | | NC_000011.9:g.64572663dup | ClinGen:CA658797667 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1194G>C (p.Gln398His) | 4221 | MEN1 | Uncertain significance | 1592637824 | RCV000806343; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572662 | 64572662 | | | 11:g.64572662C>G | - | | |
NM_001370259.2(MEN1):c.1192C>G (p.Gln398Glu) | 4221 | MEN1 | Uncertain significance | 886039418 | RCV001010268|RCV001342349; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572664 | 64572664 | | | 11:g.64572664G>C | - | | |
NM_001370259.2(MEN1):c.1191C>T (p.Thr397=) | 4221 | MEN1 | Likely benign | 1166154585 | RCV001479991|RCV003159745; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572665 | 64572665 | | | 11:g.64572665G>A | ClinGen:CA474982950 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1190C>T (p.Thr397Ile) | 4221 | MEN1 | Uncertain significance | 1941628720 | RCV001310029|RCV003416184; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652| | 11 | 64572666 | 64572666 | | | 64572666 | - | | |
NM_001370259.2(MEN1):c.1186-5T>C | 4221 | MEN1 | Likely benign | 1941629779 | RCV001483474; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572675 | 64572675 | | | 64572675 | - | | |
NM_001370259.2(MEN1):c.1186-6G>A | 4221 | MEN1 | Likely benign | 576193460 | RCV000504111|RCV001082032|RCV002255399; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64572676 | 64572676 | | | NC_000011.9:g.64572676C>T | ClinGen:CA060265 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1186-7C>T | 4221 | MEN1 | Likely benign | 587780842 | RCV000123381; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572677 | 64572677 | | | NC_000011.9:g.64572677G>A | ClinGen:CA009074 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1186-7C>G | 4221 | MEN1 | Likely benign | 587780842 | RCV001433482; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572677 | 64572677 | | | 64572677 | - | | |
NM_001370259.2(MEN1):c.1186-8del | 4221 | MEN1 | Likely benign | 1555164452 | RCV000558432; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572678 | 64572678 | | | 11:g.64572678_64572678del | ClinGen:CA658656144 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1186-9C>T | 4221 | MEN1 | Likely benign | 1555164455 | RCV000632160; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572679 | 64572679 | | | 11:g.64572679G>A | ClinGen:CA658797668 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1186-10C>T | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 762303621 | RCV000264959|RCV000375854; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572680 | 64572680 | | | 11:g.64572680G>A | ClinGen:CA10639643 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.1186-13C>T | 4221 | MEN1 | Likely benign | 1181170442 | RCV002190855; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572683 | 64572683 | | | 64572683 | - | | |
NM_001370259.2(MEN1):c.1186-14T>C | 4221 | MEN1 | Likely benign | -1 | RCV002886013; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572684 | 64572684 | | | NC_000011.9:g.64572684A>G | - | | |
NM_001370259.2(MEN1):c.1186-15T>A | 4221 | MEN1 | Likely benign | 1482248002 | RCV002123886; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572685 | 64572685 | | | 64572685 | - | | |
NM_001370259.2(MEN1):c.1186-16C>T | 4221 | MEN1 | Likely benign | -1 | RCV003073422; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572686 | 64572686 | | | NC_000011.9:g.64572686G>A | - | | |
NM_001370259.2(MEN1):c.1186-17C>T | 4221 | MEN1 | Likely benign | 773542607 | RCV002118890; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64572687 | 64572687 | | | 64572687 | - | | |
NM_001370259.2(MEN1):c.1185+19A>G | 4221 | MEN1 | Likely benign | 1456615213 | RCV002084325; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573088 | 64573088 | | | 64573088 | - | | |
NM_001370259.2(MEN1):c.1185+18C>A | 4221 | MEN1 | Likely benign | 780329058 | RCV002178367; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573089 | 64573089 | | | 64573089 | - | | |
NM_001370259.2(MEN1):c.1185+18C>T | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 780329058 | RCV002123811|RCV002337347; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573089 | 64573089 | | | 64573089 | - | | |
NM_001370259.2(MEN1):c.1185+15C>G | 4221 | MEN1 | Likely benign | 2136107680 | RCV002151076; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573092 | 64573092 | | | 64573092 | - | | |
NM_001370259.2(MEN1):c.1185+13A>G | 4221 | MEN1 | Likely benign | -1 | RCV003033015; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573094 | 64573094 | | | NC_000011.9:g.64573094T>C | - | | |
NM_001370259.2(MEN1):c.1185+12G>A | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 373609932 | RCV000209727|RCV000608324|RCV001529469|RCV001762454; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573095 | 64573095 | | | 11:g.64573095C>T | ClinGen:CA060120 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1185+12G>C | 4221 | MEN1 | Likely benign | 373609932 | RCV002172824; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573095 | 64573095 | | | 64573095 | - | | |
NM_001370259.2(MEN1):c.1185+10dup | 4221 | MEN1 | Likely benign | 2136107816 | RCV002219872; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573096 | 64573097 | | | 64573096 | - | | |
NC_000011.9:g.(?_64573097)_(64575581_?)del | 4221 | MEN1 | Pathogenic | -1 | RCV003123029; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573097 | 64575581 | | | | - | | |
NM_001370259.2(MEN1):c.1185+6A>G | 4221 | MEN1 | Uncertain significance | 2136107870 | RCV001973727; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573101 | 64573101 | | | 64573101 | - | | |
NM_001370259.2(MEN1):c.1185+5A>G | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 748700116 | RCV000696574|RCV002334322; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573102 | 64573102 | | | NC_000011.9:g.64573102T>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1185+4A>G | 4221 | MEN1 | Uncertain significance | 863224809 | RCV000200321|RCV002336545|RCV003407711; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 11 | 64573103 | 64573103 | | | 11:g.64573103T>C | ClinGen:CA339242 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1185+3G>A | 4221 | MEN1 | Uncertain significance | 1199137996 | RCV001303240; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573104 | 64573104 | | | 64573104 | - | | |
NM_001370259.2(MEN1):c.1185+1G>A | 4221 | MEN1 | Uncertain significance | 1941661315 | RCV001253238; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573106 | 64573106 | | | 11:g.64573106C>T | - | | |
NM_001370259.2(MEN1):c.1182C>T (p.Ser394=) | 4221 | MEN1 | Likely benign | 1396452284 | RCV000976292|RCV002327199; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573110 | 64573110 | | | 11:g.64573110G>A | - | | |
NM_001370259.2(MEN1):c.1181G>C (p.Ser394Thr) | 4221 | MEN1 | Uncertain significance | 934222398 | RCV000472591; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573111 | 64573111 | | | NC_000011.9:g.64573111C>G | ClinGen:CA16613381 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1177C>G (p.Gln393Glu) | 4221 | MEN1 | Uncertain significance | 1060499984 | RCV000472220|RCV000708704; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573115 | 64573115 | | | NC_000011.9:g.64573115G>C | ClinGen:CA16613386 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter) | 4221 | MEN1 | Pathogenic | 1060499984 | RCV000491380|RCV001203901; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573115 | 64573115 | | | NC_000011.9:g.64573115G>A | ClinGen:CA381182053 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs) | 4221 | MEN1 | Likely pathogenic | 386134247 | RCV000030194; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573117 | 64573118 | | | 11:g.64573117_64573118insC | ClinGen:CA260440 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1174del (p.Glu392fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 386134247 | RCV000255795|RCV000714231; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573118 | 64573118 | | | 11:g.64573118_64573118del | ClinGen:CA10588530 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter) | 4221 | MEN1 | Pathogenic | 772588551 | RCV000476658|RCV000523599|RCV002329011; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573118 | 64573118 | | | NC_000011.9:g.64573118C>A | ClinGen:CA16613679 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1173G>A (p.Gly391=) | 4221 | MEN1 | Likely benign | 1592639850 | RCV001417535; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573119 | 64573119 | | | 11:g.64573119C>T | - | | |
NM_001370259.2(MEN1):c.1172G>A (p.Gly391Glu) | 4221 | MEN1 | Uncertain significance | 998827212 | RCV001300942|RCV002327650; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573120 | 64573120 | | | 64573120 | - | | |
NM_001370259.2(MEN1):c.1170G>C (p.Pro390=) | 4221 | MEN1 | Likely benign | 587780841 | RCV000123380|RCV000562906; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573122 | 64573122 | | | NC_000011.9:g.64573122C>G | ClinGen:CA009055 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) | 4221 | MEN1 | Benign/Likely benign | 587780841 | RCV000199870|RCV000569118|RCV000729820|RCV001706182; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900 | 11 | 64573122 | 64573122 | | | NC_000011.9:g.64573122C>T | ClinGen:CA060100 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1170G>T (p.Pro390=) | 4221 | MEN1 | Likely benign | 587780841 | RCV001504846|RCV002329639; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573122 | 64573122 | | | 64573122 | - | | |
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 761102084 | RCV000457486|RCV000568225|RCV000994656|RCV001821219; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374 | 11 | 64573123 | 64573123 | | | 11:g.64573123G>A | ClinGen:CA060092 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1169C>G (p.Pro390Arg) | 4221 | MEN1 | Uncertain significance | 761102084 | RCV000632078; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573123 | 64573123 | | | NC_000011.9:g.64573123G>C | ClinGen:CA060079 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1169C>A (p.Pro390Gln) | 4221 | MEN1 | Uncertain significance | 761102084 | RCV001867307; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573123 | 64573123 | | | 64573123 | - | | |
NM_001370259.2(MEN1):c.1167G>C (p.Arg389=) | 4221 | MEN1 | Likely benign | 1194388602 | RCV000546169|RCV003380599; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573125 | 64573125 | | | 11:g.64573125C>G | ClinGen:CA474983082 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 775267651 | RCV000203887|RCV001017497; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573126 | 64573126 | | | NC_000011.9:g.64573126C>T | ClinGen:CA060070 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1166G>C (p.Arg389Pro) | 4221 | MEN1 | Uncertain significance | 775267651 | RCV000800804|RCV001017498; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573126 | 64573126 | | | 11:g.64573126C>G | - | | |
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 566593066 | RCV000463517|RCV001017493; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573127 | 64573127 | | | NC_000011.9:g.64573127G>A | ClinGen:CA16613614 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1163A>G (p.Glu388Gly) | 4221 | MEN1 | Uncertain significance | -1 | RCV002321387|RCV003094501; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573129 | 64573129 | | | 64573129 | - | | |
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys) | 4221 | MEN1 | Uncertain significance | 773978650 | RCV000467350|RCV002374736; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573133 | 64573133 | | | NC_000011.9:g.64573133C>T | ClinGen:CA060044 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1158C>T (p.Gly386=) | 4221 | MEN1 | Uncertain significance | 794728653 | RCV000457527|RCV001010040; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573134 | 64573134 | | | NC_000011.9:g.64573134G>A | ClinGen:CA009049 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1158C>G (p.Gly386=) | 4221 | MEN1 | Likely benign | 794728653 | RCV001401970; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573134 | 64573134 | | | 11:g.64573134G>C | - | | |
NM_001370259.2(MEN1):c.1158C>A (p.Gly386=) | 4221 | MEN1 | Likely benign | 794728653 | RCV001506908; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573134 | 64573134 | | | 64573134 | - | | |
NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 761360623 | RCV000204534|RCV000570220; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573135 | 64573135 | | | NC_000011.9:g.64573135C>T | ClinGen:CA060027 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1157G>C (p.Gly386Ala) | 4221 | MEN1 | Uncertain significance | 761360623 | RCV001947742|RCV002361232; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573135 | 64573135 | | | 64573135 | - | | |
NM_001370259.2(MEN1):c.1156G>A (p.Gly386Ser) | 4221 | MEN1 | Uncertain significance | 767595183 | RCV001216689|RCV002365975; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573136 | 64573136 | | | 11:g.64573136C>T | - | | |
NM_001370259.2(MEN1):c.1155G>A (p.Ala385=) | 4221 | MEN1 | Likely benign | 201091135 | RCV000198409|RCV000561075|RCV001675667; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64573137 | 64573137 | | | NC_000011.9:g.64573137C>T | ClinGen:CA060010 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1155G>T (p.Ala385=) | 4221 | MEN1 | Likely benign | 201091135 | RCV001401226; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573137 | 64573137 | | | 64573137 | - | | |
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1298484645 | RCV000632086|RCV001010012|RCV001703217; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64573138 | 64573138 | | | NC_000011.9:g.64573138G>A | ClinGen:CA381182214 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1149G>A (p.Leu383=) | 4221 | MEN1 | Likely benign | 1555164667 | RCV000632153|RCV002460097; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573143 | 64573143 | | | NC_000011.9:g.64573143C>T | ClinGen:CA474983096 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1147C>T (p.Leu383=) | 4221 | MEN1 | Likely benign | 2136109092 | RCV001495679|RCV002456886; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573145 | 64573145 | | | 64573145 | - | | |
NM_001370259.2(MEN1):c.1144T>C (p.Leu382=) | 4221 | MEN1 | Likely benign | 2136109118 | RCV002156364; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573148 | 64573148 | | | 64573148 | - | | |
NM_001370259.2(MEN1):c.1139C>G (p.Ala380Gly) | 4221 | MEN1 | Uncertain significance | 1565642307 | RCV000695794; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573153 | 64573153 | | | NC_000011.9:g.64573153G>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr) | 4221 | MEN1 | Uncertain significance | 1225964479 | RCV001201836|RCV002322000; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573154 | 64573154 | | | 11:g.64573154C>T | - | | |
NM_001370259.2(MEN1):c.1136dup (p.Ala380fs) | 4221 | MEN1 | Pathogenic | 1592640181 | RCV001002347; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573155 | 64573156 | | | 11:g.64573155_64573156insG | - | | |
NM_001370259.2(MEN1):c.1137A>C (p.Ala379=) | 4221 | MEN1 | Likely benign | 2136109300 | RCV002185287; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573155 | 64573155 | | | 64573155 | - | | |
NM_001370259.2(MEN1):c.1136C>A (p.Ala379Glu) | 4221 | MEN1 | Uncertain significance | 1592640172 | RCV001009941|RCV001215725; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573156 | 64573156 | | | 11:g.64573156G>T | - | | |
NM_001370259.2(MEN1):c.1135G>A (p.Ala379Thr) | 4221 | MEN1 | Uncertain significance | 2136109409 | RCV002002685; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573157 | 64573157 | | | 64573157 | - | | |
NM_001370259.2(MEN1):c.1131G>A (p.Lys377=) | 4221 | MEN1 | Likely benign | 1555164674 | RCV000632175; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573161 | 64573161 | | | NC_000011.9:g.64573161C>T | ClinGen:CA474983108 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1130A>G (p.Lys377Arg) | 4221 | MEN1 | Uncertain significance | 766075737 | RCV000632138|RCV003162805; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573162 | 64573162 | | | NC_000011.9:g.64573162T>C | ClinGen:CA059992 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1128G>A (p.Leu376=) | 4221 | MEN1 | Likely benign | 754129242 | RCV000911187|RCV001017414; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573164 | 64573164 | | | 11:g.64573164C>T | - | | |
NM_001370259.2(MEN1):c.1126C>A (p.Leu376Met) | 4221 | MEN1 | Uncertain significance | -1 | RCV003470100; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573166 | 64573166 | | | | - | | |
NM_001370259.2(MEN1):c.1125G>C (p.Leu375=) | 4221 | MEN1 | Likely benign | 867481093 | RCV002193460; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573167 | 64573167 | | | 64573167 | - | | |
NM_001370259.2(MEN1):c.1125G>A (p.Leu375=) | 4221 | MEN1 | Likely benign | 867481093 | RCV002140184|RCV002434564; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573167 | 64573167 | | | 64573167 | - | | |
NM_001370259.2(MEN1):c.1124T>A (p.Leu375Gln) | 4221 | MEN1 | Uncertain significance | 1941668371 | RCV001234170; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573168 | 64573168 | | | 11:g.64573168A>T | - | | |
NM_001370259.2(MEN1):c.1123C>G (p.Leu375Val) | 4221 | MEN1 | Uncertain significance | 1211957325 | RCV000575830|RCV000632112; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573169 | 64573169 | | | NC_000011.9:g.64573169G>C | ClinGen:CA381182444 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1121A>G (p.Asn374Ser) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 755168633 | RCV001317315|RCV003166824; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573171 | 64573171 | | | 64573171 | - | | |
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr) | 4221 | MEN1 | Uncertain significance | -1 | RCV002440066|RCV003465767; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573171 | 64573171 | | | 64573171 | - | | |
NM_001370259.2(MEN1):c.1119C>T (p.Pro373=) | 4221 | MEN1 | Likely benign | 535417698 | RCV001402305|RCV002434127; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573173 | 64573173 | | | 11:g.64573173G>A | - | | |
NM_001370259.2(MEN1):c.1119C>A (p.Pro373=) | 4221 | MEN1 | Likely benign | 535417698 | RCV000877414|RCV001009910; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573173 | 64573173 | | | 11:g.64573173G>T | - | | |
NM_001370259.2(MEN1):c.1119del (p.Asn374fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002795935; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573173 | 64573173 | | | NC_000011.9:g.64573176del | - | | |
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser) | 4221 | MEN1 | Likely pathogenic | 794728627 | RCV000709158; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573175 | 64573175 | | | 11:g.64573175G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr) | 4221 | MEN1 | Uncertain significance | 794728627 | RCV001951636; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573175 | 64573175 | | | 64573175 | - | | |
NM_001370259.2(MEN1):c.1111G>A (p.Val371Ile) | 4221 | MEN1 | Uncertain significance | 1941669758 | RCV001317008|RCV003166821; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573181 | 64573181 | | | 64573181 | - | | |
NM_001370259.2(MEN1):c.1106A>G (p.Asn369Ser) | 4221 | MEN1 | Uncertain significance | 1368034727 | RCV001216536; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573186 | 64573186 | | | 11:g.64573186T>C | - | | |
NM_001370259.2(MEN1):c.1104C>A (p.Ala368=) | 4221 | MEN1 | Likely benign | -1 | RCV002865984; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573188 | 64573188 | | | | - | | |
NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp) | 4221 | MEN1 | Pathogenic | 1555164707 | RCV000659846; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573189 | 64573189 | | | 11:g.64573189G>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1102del (p.Ala368fs) | 4221 | MEN1 | Likely pathogenic | 2136110242 | RCV001532962; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573190 | 64573190 | | | 64573189 | - | | |
NM_001370259.2(MEN1):c.1100T>C (p.Val367Ala) | 4221 | MEN1 | Uncertain significance | 2136110269 | RCV001969587; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573192 | 64573192 | | | 64573192 | - | | |
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 758404089 | RCV000456726|RCV000569841|RCV001289028; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64573193 | 64573193 | | | NC_000011.9:g.64573193C>T | ClinGen:CA059937 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 149383809 | RCV000161928|RCV000567306|RCV002267897; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 11 | 64573194 | 64573194 | | | NC_000011.9:g.64573194T>A | ClinGen:CA009023 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1095T>C (p.Phe365=) | 4221 | MEN1 | Likely benign | 1592640464 | RCV001487089; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573197 | 64573197 | | | 11:g.64573197A>G | - | | |
NM_001370259.2(MEN1):c.1093T>C (p.Phe365Leu) | 4221 | MEN1 | Uncertain significance | 1592640479 | RCV000813316; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573199 | 64573199 | | | 11:g.64573199A>G | - | | |
NM_001370259.2(MEN1):c.1092C>A (p.Phe364Leu) | 4221 | MEN1 | Uncertain significance | 863224808 | RCV000196551; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573200 | 64573200 | | | NC_000011.9:g.64573200G>T | ClinGen:CA336516 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del) | 4221 | MEN1 | Pathogenic | 869025185 | RCV000018165|RCV000255250|RCV000491660; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573203 | 64573205 | | | NC_000011.9:g.64573205_64573207del | OMIM:613733.0009,ClinGen:CA356504 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1089G>A (p.Glu363=) | 4221 | MEN1 | Likely benign | 2136110455 | RCV002086318; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573203 | 64573203 | | | 64573203 | - | | |
NM_001370259.2(MEN1):c.1089G>C (p.Glu363Asp) | 4221 | MEN1 | Uncertain significance | -1 | RCV002443694|RCV003098757; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573203 | 64573203 | | | 64573203 | - | | |
NM_001370259.2(MEN1):c.1086G>A (p.Lys362=) | 4221 | MEN1 | Likely benign | 1941672084 | RCV001506770|RCV002424948; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573206 | 64573206 | | | 64573206 | - | | |
NM_001370259.2(MEN1):c.1084A>G (p.Lys362Glu) | 4221 | MEN1 | Uncertain significance | 1941672276 | RCV001300659; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573208 | 64573208 | | | 64573208 | - | | |
NM_001370259.2(MEN1):c.1083C>T (p.Tyr361=) | 4221 | MEN1 | Likely benign | 1168237114 | RCV000632151|RCV002431866; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573209 | 64573209 | | | NC_000011.9:g.64573209G>A | ClinGen:CA474983144 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) | 4221 | MEN1 | Likely benign | 147331514 | RCV000506264|RCV000574517|RCV000988572|RCV001529229; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64573212 | 64573212 | | | NC_000011.9:g.64573212G>A | ClinGen:CA059924 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1060499971 | RCV000463375; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573215 | 64573217 | | | NC_000011.9:g.64573215CTC[1] | ClinGen:CA16613681 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1077G>T (p.Glu359Asp) | 4221 | MEN1 | Uncertain significance | -1 | RCV002299860; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573215 | 64573215 | | | 64573215 | - | | |
NM_001370259.2(MEN1):c.1076A>C (p.Glu359Ala) | 4221 | MEN1 | Uncertain significance | -1 | RCV002297211; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573216 | 64573216 | | | 64573216 | - | | |
NM_001370259.2(MEN1):c.1074G>A (p.Glu358=) | 4221 | MEN1 | Likely benign | 776834299 | RCV001431346|RCV002418428; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573218 | 64573218 | | | NC_000011.9:g.64573218C>T | ClinGen:CA059916 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1072G>A (p.Glu358Lys) | 4221 | MEN1 | Uncertain significance | 1941674204 | RCV001924228; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573220 | 64573220 | | | 64573220 | - | | |
NM_001370259.2(MEN1):c.1071C>T (p.Asp357=) | 4221 | MEN1 | Likely benign | 371964966 | RCV000465120|RCV000572706; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573221 | 64573221 | | | NC_000011.9:g.64573221G>A | ClinGen:CA059908 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1069G>A (p.Asp357Asn) | 4221 | MEN1 | Uncertain significance | 768448073 | RCV000793965; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573223 | 64573223 | | | 11:g.64573223C>T | - | | |
NM_001370259.2(MEN1):c.1065G>C (p.Arg355=) | 4221 | MEN1 | Likely benign | 1592640719 | RCV001443114|RCV002409207; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573227 | 64573227 | | | 11:g.64573227C>G | - | | |
NM_001370259.2(MEN1):c.1065G>T (p.Arg355=) | 4221 | MEN1 | Likely benign | 1592640719 | RCV001482936|RCV002414171; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573227 | 64573227 | | | 64573227 | - | | |
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1114167474 | RCV000491631|RCV000761778|RCV000797646; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573228 | 64573228 | | | NC_000011.9:g.64573228C>T | ClinGen:CA381182908 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1063del (p.Arg355fs) | 4221 | MEN1 | Likely pathogenic | 386134246 | RCV000030193; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573229 | 64573229 | | | 11:g.64573229_64573229del | ClinGen:CA009011 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1063C>A (p.Arg355=) | 4221 | MEN1 | Uncertain significance | 863224807 | RCV000200097; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573229 | 64573229 | | | NC_000011.9:g.64573229G>T | ClinGen:CA339093 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp) | 4221 | MEN1 | Uncertain significance | 863224807 | RCV000632081|RCV001009797; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573229 | 64573229 | | | NC_000011.9:g.64573229G>A | ClinGen:CA381182913 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1063C>G (p.Arg355Gly) | 4221 | MEN1 | Uncertain significance | 863224807 | RCV001204111; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573229 | 64573229 | | | 11:g.64573229G>C | - | | |
NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter) | 4221 | MEN1 | Pathogenic | 104894265 | RCV000018185; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573230 | 64573230 | | | 11:g.64573230G>T | ClinGen:CA009004,OMIM:613733.0029 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1062C>T (p.Cys354=) | 4221 | MEN1 | Likely benign | 104894265 | RCV001436365; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573230 | 64573230 | | | 11:g.64573230G>A | - | | |
NM_001370259.2(MEN1):c.1061G>A (p.Cys354Tyr) | 4221 | MEN1 | Uncertain significance | 904261642 | RCV000551988|RCV002413455; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573231 | 64573231 | | | 11:g.64573231C>T | ClinGen:CA381182936 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1061G>T (p.Cys354Phe) | 4221 | MEN1 | Uncertain significance | 904261642 | RCV001896509|RCV002407013; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573231 | 64573231 | | | 64573231 | - | | |
NM_001370259.2(MEN1):c.1060T>C (p.Cys354Arg) | 4221 | MEN1 | Uncertain significance | 371503251 | RCV000574233|RCV000699682; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573232 | 64573232 | | | 11:g.64573232A>G | ClinGen:CA059880 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1059C>T (p.Tyr353=) | 4221 | MEN1 | Likely benign | 1592640846 | RCV001433291; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573233 | 64573233 | | | 11:g.64573233G>A | - | | |
NM_001370259.2(MEN1):c.1058_1059insTG (p.Cys354fs) | 4221 | MEN1 | Pathogenic | 2136111335 | RCV001382783; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573233 | 64573234 | | | 64573233 | - | | |
NM_001370259.2(MEN1):c.1058A>C (p.Tyr353Ser) | 4221 | MEN1 | Uncertain significance | 1592640870 | RCV000816807; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573234 | 64573234 | | | 11:g.64573234T>G | - | | |
NM_001370259.2(MEN1):c.1056C>T (p.Asn352=) | 4221 | MEN1 | Likely benign | 1565642741 | RCV001417821; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573236 | 64573236 | | | 64573236 | - | | |
NM_001370259.2(MEN1):c.1055A>G (p.Asn352Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV003461849; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573237 | 64573237 | | | | - | | |
NM_001370259.2(MEN1):c.1050-2A>T | 4221 | MEN1 | Pathogenic | 1565642765 | RCV000698599; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573244 | 64573244 | | | NC_000011.9:g.64573244T>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1050-2A>G | 4221 | MEN1 | Pathogenic | 1565642765 | RCV000801108; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573244 | 64573244 | | | 11:g.64573244T>C | - | | |
NM_001370259.2(MEN1):c.1050-3C>T | 4221 | MEN1 | Uncertain significance | 2136111597 | RCV001927281|RCV003167001; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573245 | 64573245 | | | 64573245 | - | | |
NM_001370259.2(MEN1):c.1050-3C>G | 4221 | MEN1 | Conflicting interpretations of pathogenicity | -1 | RCV003225588|RCV003395729|RCV003466041; | N | MedGen:C3661900||MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573245 | 64573245 | | | | - | | |
NM_001370259.2(MEN1):c.1050-7C>T | 4221 | MEN1 | Likely benign | 1000294408 | RCV001452455; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573249 | 64573249 | | | 64573249 | - | | |
NM_001370259.2(MEN1):c.1050-19G>C | 4221 | MEN1 | Likely benign | 1322811280 | RCV002178274; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573261 | 64573261 | | | 64573261 | - | | |
NM_001370259.2(MEN1):c.1050-19G>A | 4221 | MEN1 | Likely benign | -1 | RCV002801458; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573261 | 64573261 | | | NC_000011.9:g.64573261C>T | - | | |
NM_001370259.2(MEN1):c.1050-20A>G | 4221 | MEN1 | Likely benign | 2136111796 | RCV002214938; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573262 | 64573262 | | | 64573262 | - | | |
NM_001370259.2(MEN1):c.623_1050-143del | 4221 | MEN1 | Pathogenic | -1 | RCV000822934; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573385 | 64575394 | | | 11:g.64573385_64573483del | - | | |
NM_001370259.2(MEN1):c.940_1050-227del | 4221 | MEN1 | Pathogenic | -1 | RCV000556751; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573469 | 64573813 | | | NC_000011.9:g.64573469_64573813del | ClinGen:CA658656152 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1049+17T>G | 4221 | MEN1 | Likely benign | -1 | RCV003066425; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573687 | 64573687 | | | NC_000011.9:g.64573687A>C | - | | |
NM_001370259.2(MEN1):c.1049+15A>G | 4221 | MEN1 | Likely benign | -1 | RCV002770105; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573689 | 64573689 | | | NC_000011.9:g.64573689T>C | - | | |
NM_001370259.2(MEN1):c.1049+13C>T | 4221 | MEN1 | Likely benign | 533537007 | RCV001971702; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573691 | 64573691 | | | 64573691 | - | | |
NM_001370259.2(MEN1):c.1049+13C>A | 4221 | MEN1 | Likely benign | -1 | RCV003048647; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573691 | 64573691 | | | NC_000011.9:g.64573691G>T | - | | |
NM_001370259.2(MEN1):c.1049+12C>A | 4221 | MEN1 | Likely benign | -1 | RCV003070020; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573692 | 64573692 | | | NC_000011.9:g.64573692G>T | - | | |
NM_001370259.2(MEN1):c.1049+11C>A | 4221 | MEN1 | Likely benign | 1229329826 | RCV002205950; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573693 | 64573693 | | | 64573693 | - | | |
NM_001370259.2(MEN1):c.1049+11C>T | 4221 | MEN1 | Likely benign | -1 | RCV002791668; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573693 | 64573693 | | | NC_000011.9:g.64573693G>A | - | | |
NM_001370259.2(MEN1):c.1049+9C>T | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 200517349 | RCV000030192|RCV000609911|RCV000679246|RCV001108572|RCV002255260; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573695 | 64573695 | | | 11:g.64573695G>A | ClinGen:CA008998 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1049+9C>A | 4221 | MEN1 | Likely benign | 200517349 | RCV000457328; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573695 | 64573695 | | | NC_000011.9:g.64573695G>T | ClinGen:CA16613615 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1049+9C>G | 4221 | MEN1 | Likely benign | 200517349 | RCV000555401; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573695 | 64573695 | | | 11:g.64573695G>C | ClinGen:CA223914371 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1049+8T>C | 4221 | MEN1 | Likely benign | 2136117570 | RCV002208069; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573696 | 64573696 | | | 64573696 | - | | |
NM_001370259.2(MEN1):c.1049+6G>A | 4221 | MEN1 | Uncertain significance | -1 | RCV002658366; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573698 | 64573698 | | | NC_000011.9:g.64573698C>T | - | | |
NM_001370259.2(MEN1):c.1049+2T>C | 4221 | MEN1 | Likely pathogenic | 1555164946 | RCV000659845; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573702 | 64573702 | | | NC_000011.9:g.64573702A>G | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1049+1G>A | 4221 | MEN1 | Pathogenic | 1114167489 | RCV000632121|RCV002404747|RCV003330850; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161 | 11 | 64573703 | 64573703 | | | NC_000011.9:g.64573703C>T | ClinGen:CA381183128 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1045del (p.Gln349fs) | 4221 | MEN1 | Pathogenic | 2136117722 | RCV001385000; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573708 | 64573708 | | | 64573707 | - | | |
NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter) | 4221 | MEN1 | Pathogenic | 2136117686 | RCV002244089; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573708 | 64573708 | | | 64573708 | - | | |
NM_001370259.2(MEN1):c.1040T>A (p.Val347Asp) | 4221 | MEN1 | Uncertain significance | 1592642971 | RCV000799507; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573713 | 64573713 | | | 11:g.64573713A>T | - | | |
NM_001370259.2(MEN1):c.1038T>C (p.Thr346=) | 4221 | MEN1 | Likely benign | 1414483292 | RCV001462071|RCV002396090; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573715 | 64573715 | | | 64573715 | - | | |
NM_001370259.2(MEN1):c.1036A>G (p.Thr346Ala) | 4221 | MEN1 | Uncertain significance | 2136117914 | RCV001944757; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573717 | 64573717 | | | 64573717 | - | | |
NM_001370259.2(MEN1):c.1036A>T (p.Thr346Ser) | 4221 | MEN1 | Uncertain significance | 2136117914 | RCV002008636|RCV003170384; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573717 | 64573717 | | | 64573717 | - | | |
NM_001370259.2(MEN1):c.1035C>T (p.Ala345=) | 4221 | MEN1 | Likely benign | -1 | RCV002953661; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573718 | 64573718 | | | | - | | |
NM_001370259.2(MEN1):c.1032G>A (p.Thr344=) | 4221 | MEN1 | Likely benign | 760183888 | RCV000543972|RCV000562124|RCV003114656; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64573721 | 64573721 | | | 11:g.64573721C>T | ClinGen:CA059715 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1032G>C (p.Thr344=) | 4221 | MEN1 | Likely benign | 760183888 | RCV001467684; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573721 | 64573721 | | | 64573721 | - | | |
NM_001370259.2(MEN1):c.1031C>T (p.Thr344Met) | 4221 | MEN1 | Uncertain significance | 1259681826 | RCV000632122|RCV003380646; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573722 | 64573722 | | | NC_000011.9:g.64573722G>A | ClinGen:CA381183208 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1031C>G (p.Thr344Arg) | 4221 | MEN1 | Pathogenic | 1259681826 | RCV001368588; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573722 | 64573722 | | | 64573722 | - | | |
NM_001370259.2(MEN1):c.1029C>G (p.Asp343Glu) | 4221 | MEN1 | Uncertain significance | 878855185 | RCV000226644; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573724 | 64573724 | | | NC_000011.9:g.64573724G>C | ClinGen:CA10582934 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1027G>A (p.Asp343Asn) | 4221 | MEN1 | Uncertain significance | 2136118303 | RCV002038445|RCV002386931; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573726 | 64573726 | | | 64573726 | - | | |
NM_001370259.2(MEN1):c.1026G>A (p.Ala342=) | 4221 | MEN1 | Likely benign | 878855184 | RCV000232744|RCV000573264|RCV003401187; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64573727 | 64573727 | | | NC_000011.9:g.64573727C>T | ClinGen:CA10582935 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1026G>C (p.Ala342=) | 4221 | MEN1 | Likely benign | 878855184 | RCV001490737|RCV003160982; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573727 | 64573727 | | | 64573727 | - | | |
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val) | 4221 | MEN1 | Uncertain significance | 377715802 | RCV000531650|RCV002384057; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573728 | 64573728 | | | NC_000011.9:g.64573728G>A | ClinGen:CA059707 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1024del (p.Ala342fs) | 4221 | MEN1 | Pathogenic | 1555164986 | RCV000509058; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573729 | 64573729 | | | 11:g.64573729_64573729del | OMIM:613733.0008,ClinGen:CA658653653 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro) | 4221 | MEN1 | Likely pathogenic | 776561706 | RCV000632117; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573729 | 64573729 | | | NC_000011.9:g.64573729C>G | ClinGen:CA381183224 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1018_1024del (p.Ala340fs) | 4221 | MEN1 | Pathogenic | 1941717148 | RCV001203263; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573729 | 64573735 | | | 11:g.64573729_64573735del | - | | |
NM_001370259.2(MEN1):c.1023G>C (p.Trp341Cys) | 4221 | MEN1 | Uncertain significance | -1 | RCV003121439; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573730 | 64573730 | | | NC_000011.9:g.64573730C>G | - | | |
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter) | 4221 | MEN1 | Pathogenic | 1114167482 | RCV000491036|RCV000538522; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573731 | 64573731 | | | NC_000011.9:g.64573731C>T | ClinGen:CA381183230 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1020C>A (p.Ala340=) | 4221 | MEN1 | Likely benign | 1060503796 | RCV000474535|RCV000564612; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573733 | 64573733 | | | NC_000011.9:g.64573733G>T | ClinGen:CA16613683 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1019C>G (p.Ala340Gly) | 4221 | MEN1 | Uncertain significance | 2136118671 | RCV002049280; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573734 | 64573734 | | | 64573734 | - | | |
NM_001370259.2(MEN1):c.1018G>C (p.Ala340Pro) | 4221 | MEN1 | Uncertain significance | 2136118718 | RCV001969883; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573735 | 64573735 | | | 64573735 | - | | |
NM_001370259.2(MEN1):c.1017G>A (p.Gln339=) | 4221 | MEN1 | Likely benign | -1 | RCV002861761; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573736 | 64573736 | | | | - | | |
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs) | 4221 | MEN1 | Likely pathogenic | 386134245 | RCV000030191; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573739 | 64573740 | | | 11:g.64573739_64573740insA | ClinGen:CA260439 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1013del (p.Leu338fs) | 4221 | MEN1 | Pathogenic | 2136118927 | RCV001382910; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573740 | 64573740 | | | 64573739 | - | | |
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 759337318 | RCV000468728|RCV001016949|RCV003231485; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64573741 | 64573741 | | | NC_000011.9:g.64573741G>C | ClinGen:CA059690 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1011C>G (p.Ala337=) | 4221 | MEN1 | Likely benign | -1 | RCV002843913; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573742 | 64573742 | | | | - | | |
NM_001370259.2(MEN1):c.1007_1009dup (p.Glu336dup) | 4221 | MEN1 | Uncertain significance | 1114167529 | RCV000491786|RCV001041721; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573743 | 64573744 | | | NC_000011.9:g.64573745_64573747dup | ClinGen:CA645369577 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp) | 4221 | MEN1 | Pathogenic | 2136118998 | RCV001382548|RCV002319708; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573743 | 64573743 | | | 64573743 | - | | |
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro) | 4221 | MEN1 | Likely pathogenic | 2071312 | RCV000467805; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573744 | 64573744 | | | NC_000011.9:g.64573744C>G | ClinGen:CA16613621 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1006dup (p.Glu336fs) | 4221 | MEN1 | Pathogenic | 2136119153 | RCV001380466; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573746 | 64573747 | | | 64573746 | - | | |
NM_001370259.2(MEN1):c.1004G>A (p.Arg335Gln) | 4221 | MEN1 | Uncertain significance | 764998893 | RCV000466812|RCV002402228; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573749 | 64573749 | | | NC_000011.9:g.64573749C>T | ClinGen:CA059675 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1003C>A (p.Arg335=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 371364206 | RCV000246806|RCV000461335|RCV000568413|RCV001108573; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64573750 | 64573750 | | | NC_000011.9:g.64573750G>T | ClinGen:CA059657 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp) | 4221 | MEN1 | Uncertain significance | 371364206 | RCV000525951|RCV001009661; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573750 | 64573750 | | | 11:g.64573750G>A | ClinGen:CA381183266 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.1003C>G (p.Arg335Gly) | 4221 | MEN1 | Uncertain significance | 371364206 | RCV002010611|RCV002398081; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573750 | 64573750 | | | 64573750 | - | | |
NM_001370259.2(MEN1):c.999T>C (p.Asn333=) | 4221 | MEN1 | Likely benign | 763133775 | RCV000469063|RCV000563547|RCV002282163; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 11 | 64573754 | 64573754 | | | NC_000011.9:g.64573754A>G | ClinGen:CA061927 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.996C>T (p.Arg332=) | 4221 | MEN1 | Likely benign | 2136119464 | RCV001392528; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573757 | 64573757 | | | 64573757 | - | | |
NM_001370259.2(MEN1):c.995G>A (p.Arg332His) | 4221 | MEN1 | Uncertain significance | 2136119513 | RCV001367135; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573758 | 64573758 | | | 64573758 | - | | |
NM_001370259.2(MEN1):c.995G>T (p.Arg332Leu) | 4221 | MEN1 | Uncertain significance | -1 | RCV002654367|RCV003308218; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573758 | 64573758 | | | NC_000011.9:g.64573758C>A | - | | |
NM_001370259.2(MEN1):c.994C>T (p.Arg332Cys) | 4221 | MEN1 | Uncertain significance | 1941721650 | RCV001235174; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573759 | 64573759 | | | 11:g.64573759G>A | - | | |
NM_001370259.2(MEN1):c.993C>T (p.Asn331=) | 4221 | MEN1 | Likely benign | 370176253 | RCV000457874|RCV000490867; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573760 | 64573760 | | | NC_000011.9:g.64573760G>A | ClinGen:CA061914 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.990C>A (p.Arg330=) | 4221 | MEN1 | Likely benign | 1359880787 | RCV002136434|RCV003382857; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573763 | 64573763 | | | 64573763 | - | | |
NM_001370259.2(MEN1):c.990C>T (p.Arg330=) | 4221 | MEN1 | Likely benign | 1359880787 | RCV002139327; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573763 | 64573763 | | | 64573763 | - | | |
NM_001370259.2(MEN1):c.989G>T (p.Arg330Leu) | 4221 | MEN1 | Uncertain significance | 373135175 | RCV000460980; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573764 | 64573764 | | | NC_000011.9:g.64573764C>A | ClinGen:CA16613625 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.989G>C (p.Arg330Pro) | 4221 | MEN1 | Uncertain significance | 373135175 | RCV000527000; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573764 | 64573764 | | | NC_000011.9:g.64573764C>G | ClinGen:CA381183296 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.989G>A (p.Arg330His) | 4221 | MEN1 | Uncertain significance | 373135175 | RCV000573622|RCV000632116|RCV003332206; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64573764 | 64573764 | | | 11:g.64573764C>T | ClinGen:CA061906 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.988C>T (p.Arg330Cys) | 4221 | MEN1 | Uncertain significance | 1565644005 | RCV000691929|RCV001019861; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573765 | 64573765 | | | 11:g.64573765G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.988C>G (p.Arg330Gly) | 4221 | MEN1 | Uncertain significance | 1565644005 | RCV001216471; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573765 | 64573765 | | | 11:g.64573765G>C | - | | |
NM_001370259.2(MEN1):c.984C>T (p.His328=) | 4221 | MEN1 | Likely benign | 757323408 | RCV000938389; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573769 | 64573769 | | | 11:g.64573769G>A | - | | |
NM_001370259.2(MEN1):c.970_984del (p.Leu324_His328del) | 4221 | MEN1 | Likely pathogenic | 1941723156 | RCV001307430; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573769 | 64573783 | | | 64573768 | - | | |
NM_001370259.2(MEN1):c.982C>G (p.His328Asp) | 4221 | MEN1 | Uncertain significance | 794727882 | RCV000179998|RCV000632139; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573771 | 64573771 | | | 11:g.64573771G>C | ClinGen:CA009664 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.982C>A (p.His328Asn) | 4221 | MEN1 | Uncertain significance | 794727882 | RCV000690773; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573771 | 64573771 | | | NC_000011.9:g.64573771G>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.982C>T (p.His328Tyr) | 4221 | MEN1 | Uncertain significance | 794727882 | RCV002034260; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573771 | 64573771 | | | 64573771 | - | | |
NM_001370259.2(MEN1):c.981C>T (p.Tyr327=) | 4221 | MEN1 | Likely benign | 1592643488 | RCV000865369|RCV002372421; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573772 | 64573772 | | | 11:g.64573772G>A | - | | |
NM_001370259.2(MEN1):c.981C>G (p.Tyr327Ter) | 4221 | MEN1 | Pathogenic | 1592643488 | RCV001960715; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573772 | 64573772 | | | 64573772 | - | | |
NM_001370259.2(MEN1):c.980A>G (p.Tyr327Cys) | 4221 | MEN1 | Uncertain significance | 377403837 | RCV000695160|RCV003117492; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64573773 | 64573773 | | | NC_000011.9:g.64573773T>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.978C>T (p.Gly326=) | 4221 | MEN1 | Likely benign | 1555165071 | RCV000550736|RCV002384059; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573775 | 64573775 | | | NC_000011.9:g.64573775G>A | ClinGen:CA474983321 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.974C>A (p.Ala325Asp) | 4221 | MEN1 | Uncertain significance | 370840265 | RCV000533724; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573779 | 64573779 | | | 11:g.64573779G>T | ClinGen:CA381183329 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.972G>A (p.Leu324=) | 4221 | MEN1 | Uncertain significance | 1592643568 | RCV000809013; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573781 | 64573781 | | | 11:g.64573781C>T | - | | |
NM_001370259.2(MEN1):c.972G>C (p.Leu324=) | 4221 | MEN1 | Likely benign | 1592643568 | RCV001446383; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573781 | 64573781 | | | 64573781 | - | | |
NM_001370259.2(MEN1):c.970del (p.Leu324fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1114167508 | RCV000491495|RCV003464041; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573783 | 64573783 | | | 11:g.64573783_64573783del | ClinGen:CA645369580 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter) | 4221 | MEN1 | Pathogenic | 750904332 | RCV000469199|RCV000492010|RCV001269821; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64573784 | 64573784 | | | NC_000011.9:g.64573784G>T | ClinGen:CA16613392 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter) | 4221 | MEN1 | Pathogenic | 750904332 | RCV000521767|RCV000632110; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573784 | 64573784 | | | 11:g.64573784G>C | ClinGen:CA381183338 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.969C>T (p.Tyr323=) | 4221 | MEN1 | Likely benign | -1 | RCV002387007|RCV003094857; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573784 | 64573784 | | | | - | | |
NM_001370259.2(MEN1):c.966G>A (p.Met322Ile) | 4221 | MEN1 | Uncertain significance | 947594206 | RCV000707510; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573787 | 64573787 | | | 11:g.64573787C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.965T>C (p.Met322Thr) | 4221 | MEN1 | Uncertain significance | 1941725569 | RCV001108575|RCV001108574; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64573788 | 64573788 | | | 11:g.64573788A>G | - | | |
NM_001370259.2(MEN1):c.965T>G (p.Met322Arg) | 4221 | MEN1 | Uncertain significance | 1941725569 | RCV001296671; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573788 | 64573788 | | | 64573788 | - | | |
NM_001370259.2(MEN1):c.965T>A (p.Met322Lys) | 4221 | MEN1 | Uncertain significance | -1 | RCV002725447; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573788 | 64573788 | | | NC_000011.9:g.64573788A>T | - | | |
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu) | 4221 | MEN1 | Uncertain significance | 1555165089 | RCV000557965|RCV002377019; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573789 | 64573789 | | | 11:g.64573789T>A | ClinGen:CA381183350 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.964A>G (p.Met322Val) | 4221 | MEN1 | Uncertain significance | 1555165089 | RCV000632095; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573789 | 64573789 | | | NC_000011.9:g.64573789T>C | ClinGen:CA381183351 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.963C>T (p.Tyr321=) | 4221 | MEN1 | Likely benign | 1555165094 | RCV000632177|RCV001019580; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573790 | 64573790 | | | NC_000011.9:g.64573790G>A | ClinGen:CA474983347 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.963C>A (p.Tyr321Ter) | 4221 | MEN1 | Pathogenic | 1555165094 | RCV001996735; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573790 | 64573790 | | | 64573790 | - | | |
NM_001370259.2(MEN1):c.960C>G (p.Pro320=) | 4221 | MEN1 | Likely benign | 1592643701 | RCV001410508; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573793 | 64573793 | | | 11:g.64573793G>C | - | | |
NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser) | 4221 | MEN1 | Uncertain significance | 1941726727 | RCV001345277|RCV002384474; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573795 | 64573795 | | | 64573795 | - | | |
NM_001370259.2(MEN1):c.958C>G (p.Pro320Ala) | 4221 | MEN1 | Uncertain significance | 1941726727 | RCV001952260; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573795 | 64573795 | | | 64573795 | - | | |
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs) | 4221 | MEN1 | Likely pathogenic | 386134261 | RCV000030211; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573797 | 64573798 | | | 11:g.64573797_64573798insA | ClinGen:CA260475 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.955T>G (p.Tyr319Asp) | 4221 | MEN1 | Uncertain significance | 1555165101 | RCV000545546; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573798 | 64573798 | | | 11:g.64573798A>C | ClinGen:CA381183374 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.954C>A (p.Ile318=) | 4221 | MEN1 | Likely benign | 2136120737 | RCV001403075; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573799 | 64573799 | | | 64573799 | - | | |
NM_001370259.2(MEN1):c.954C>T (p.Ile318=) | 4221 | MEN1 | Likely benign | 2136120737 | RCV002090682|RCV002372891; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573799 | 64573799 | | | 64573799 | - | | |
NM_001370259.2(MEN1):c.952A>G (p.Ile318Val) | 4221 | MEN1 | Uncertain significance | 1565644220 | RCV000703285; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573801 | 64573801 | | | NC_000011.9:g.64573801T>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr) | 4221 | MEN1 | Likely pathogenic | 2136120898 | RCV002031634|RCV002372824|RCV002479828; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64573804 | 64573804 | | | 64573804 | - | | |
NM_001370259.2(MEN1):c.948A>T (p.Glu316Asp) | 4221 | MEN1 | Uncertain significance | 756604268 | RCV001040248|RCV002445226; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573805 | 64573805 | | | 11:g.64573805T>A | - | | |
NM_001370259.2(MEN1):c.946G>A (p.Glu316Lys) | 4221 | MEN1 | Uncertain significance | 780563052 | RCV001294321; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573807 | 64573807 | | | 64573807 | - | | |
NM_001370259.2(MEN1):c.943G>T (p.Asp315Tyr) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 747851909 | RCV000494086|RCV001202722; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573810 | 64573810 | | | 11:g.64573810C>A | ClinGen:CA061863 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.943G>C (p.Asp315His) | 4221 | MEN1 | Uncertain significance | 747851909 | RCV001980488; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573810 | 64573810 | | | 64573810 | - | | |
NM_001370259.2(MEN1):c.943del (p.Asp315fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002475092|RCV002569404; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573810 | 64573810 | | | NC_000011.9:g.64573812del | - | | |
NM_001370259.2(MEN1):c.942G>A (p.Arg314=) | 4221 | MEN1 | Likely benign | -1 | RCV003115577; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573811 | 64573811 | | | | - | | |
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 771645621 | RCV000573174|RCV000632120|RCV001103402|RCV002307550; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:C3661900 | 11 | 64573812 | 64573812 | | | 11:g.64573812C>T | ClinGen:CA061855 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.941G>T (p.Arg314Leu) | 4221 | MEN1 | Uncertain significance | -1 | RCV002834451; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573812 | 64573812 | | | NC_000011.9:g.64573812C>A | - | | |
NM_001370259.2(MEN1):c.940C>T (p.Arg314Trp) | 4221 | MEN1 | Uncertain significance | 139936447 | RCV001053228; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573813 | 64573813 | | | 11:g.64573813G>A | - | | |
NM_001370259.2(MEN1):c.940C>G (p.Arg314Gly) | 4221 | MEN1 | Uncertain significance | 139936447 | RCV001961141; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573813 | 64573813 | | | 64573813 | - | | |
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter) | 4221 | MEN1 | Pathogenic | 386134260 | RCV000030210|RCV000082340|RCV002371793; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573817 | 64573817 | | | 11:g.64573817G>C | ClinGen:CA009655 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.936C>A (p.Tyr312Ter) | 4221 | MEN1 | Pathogenic | 386134260 | RCV001382417; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573817 | 64573817 | | | 64573817 | - | | |
NM_001370259.2(MEN1):c.936C>T (p.Tyr312=) | 4221 | MEN1 | Likely benign | 386134260 | RCV001498978|RCV002377870; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573817 | 64573817 | | | 64573817 | - | | |
NM_001370259.2(MEN1):c.935A>T (p.Tyr312Phe) | 4221 | MEN1 | Uncertain significance | 1592643944 | RCV000813834; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573818 | 64573818 | | | 11:g.64573818T>A | - | | |
NM_001370259.2(MEN1):c.933C>A (p.Thr311=) | 4221 | MEN1 | Likely benign | 1592643965 | RCV001498250; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573820 | 64573820 | | | 64573820 | - | | |
NM_001370259.2(MEN1):c.933C>T (p.Thr311=) | 4221 | MEN1 | Likely benign | -1 | RCV002371662|RCV003100148; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573820 | 64573820 | | | | - | | |
NM_001370259.2(MEN1):c.932C>T (p.Thr311Ile) | 4221 | MEN1 | Uncertain significance | 1565644342 | RCV000692458; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573821 | 64573821 | | | NC_000011.9:g.64573821G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.930G>T (p.Lys310Asn) | 4221 | MEN1 | Uncertain significance | 1941731256 | RCV001247545; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573823 | 64573823 | | | 11:g.64573823C>A | - | | |
NM_001370259.2(MEN1):c.927C>G (p.Ala309=) | 4221 | MEN1 | Likely benign | -1 | RCV002863235; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573826 | 64573826 | | | | - | | |
NM_001370259.2(MEN1):c.921C>T (p.Ala307=) | 4221 | MEN1 | Likely benign | 1060503788 | RCV000474055; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573832 | 64573832 | | | NC_000011.9:g.64573832G>A | ClinGen:CA16613399 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.921C>G (p.Ala307=) | 4221 | MEN1 | Likely benign | 1060503788 | RCV002123150; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573832 | 64573832 | | | 64573832 | - | | |
NM_001370259.2(MEN1):c.916A>G (p.Ile306Val) | 4221 | MEN1 | Uncertain significance | -1 | RCV002966534; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573837 | 64573837 | | | NC_000011.9:g.64573837T>C | - | | |
NM_130799.2(MEN1):c.914del | 4221 | MEN1 | Pathogenic | 1941733228 | RCV001047385; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573839 | 64573839 | | | 11:g.64573839_64573839del | - | | |
NM_001370259.2(MEN1):c.914G>A (p.Gly305Asp) | 4221 | MEN1 | Uncertain significance | 1592644100 | RCV002007070; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573839 | 64573839 | | | 64573839 | - | | |
NM_001370259.2(MEN1):c.913G>A (p.Gly305Ser) | 4221 | MEN1 | Uncertain significance | 1555165146 | RCV000545782|RCV002377018; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64573840 | 64573840 | | | NC_000011.9:g.64573840C>T | ClinGen:CA381183461 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.913-1G>A | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1057518572 | RCV000414731|RCV001018907|RCV001851002; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573841 | 64573841 | | | 11:g.64573841C>T | ClinGen:CA16042860 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.913-1G>C | 4221 | MEN1 | Pathogenic | 1057518572 | RCV002000024; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573841 | 64573841 | | | 64573841 | - | | |
NM_001370259.2(MEN1):c.913-2A>G | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1114167498 | RCV000492022|RCV000632096; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573842 | 64573842 | | | 11:g.64573842T>C | ClinGen:CA381183467 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.913-4C>T | 4221 | MEN1 | Likely benign | 770413697 | RCV000508136|RCV000533306; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573844 | 64573844 | | | NC_000011.9:g.64573844G>A | ClinGen:CA061834 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.913-7C>T | 4221 | MEN1 | Likely benign | 911501970 | RCV001464676; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573847 | 64573847 | | | 64573847 | - | | |
NM_001370259.2(MEN1):c.913-8C>T | 4221 | MEN1 | Likely benign | 373893527 | RCV001448716; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573848 | 64573848 | | | 11:g.64573848G>A | - | | |
NM_001370259.2(MEN1):c.913-10C>T | 4221 | MEN1 | Likely benign | 2136122123 | RCV001419069; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573850 | 64573850 | | | 64573850 | - | | |
NM_001370259.2(MEN1):c.913-11C>T | 4221 | MEN1 | Likely benign | 2136122142 | RCV002150296; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573851 | 64573851 | | | 64573851 | - | | |
NM_001370259.2(MEN1):c.913-12A>C | 4221 | MEN1 | Likely benign | -1 | RCV003025315; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573852 | 64573852 | | | NC_000011.9:g.64573852T>G | - | | |
NM_001370259.2(MEN1):c.913-13C>T | 4221 | MEN1 | Likely benign | 1309344851 | RCV002151750; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573853 | 64573853 | | | 64573853 | - | | |
NM_001370259.2(MEN1):c.913-15del | 4221 | MEN1 | Likely benign | 2136122252 | RCV002132976; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573855 | 64573855 | | | 64573854 | - | | |
NM_001370259.2(MEN1):c.913-15C>T | 4221 | MEN1 | Likely benign | 1941734915 | RCV002128776; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64573855 | 64573855 | | | 64573855 | - | | |
NM_001370259.2(MEN1):c.913-42G>C | 4221 | MEN1 | Benign | 529037188 | RCV000663275|RCV002258999|RCV003230273|RCV003311876; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009050,MedGen:C0221406,OMIM:219090, Orphanet:96253|MedGen:C3661900 | 11 | 64573882 | 64573882 | | | 11:g.64573882C>G | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.912+20G>T | 4221 | MEN1 | Likely benign | -1 | RCV002620886; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574463 | 64574463 | | | NC_000011.9:g.64574463C>A | - | | |
NM_001370259.2(MEN1):c.912+19G>A | 4221 | MEN1 | Likely benign | 780657282 | RCV002175953; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574464 | 64574464 | | | 64574464 | - | | |
NM_001370259.2(MEN1):c.912+13A>G | 4221 | MEN1 | Likely benign | 754283643 | RCV002151029; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574470 | 64574470 | | | 64574470 | - | | |
NM_001370259.2(MEN1):c.912+10T>C | 4221 | MEN1 | Likely benign | 1565645317 | RCV000919028; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574473 | 64574473 | | | 11:g.64574473A>G | - | | |
NM_001370259.2(MEN1):c.912+6G>T | 4221 | MEN1 | Uncertain significance | 755302991 | RCV001209296; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574477 | 64574477 | | | 11:g.64574477C>A | - | | |
NM_001370259.2(MEN1):c.912+5G>A | 4221 | MEN1 | Uncertain significance | 1592646185 | RCV000794481; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574478 | 64574478 | | | 11:g.64574478C>T | - | | |
NM_001370259.2(MEN1):c.912+5G>C | 4221 | MEN1 | Uncertain significance | 1592646185 | RCV001312423; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574478 | 64574478 | | | 64574478 | - | | |
NM_001370259.2(MEN1):c.912+3G>T | 4221 | MEN1 | Uncertain significance | -1 | RCV002863724; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574480 | 64574480 | | | NC_000011.9:g.64574480C>A | - | | |
NM_001370259.2(MEN1):c.912+2T>G | 4221 | MEN1 | Pathogenic | 1555165256 | RCV001926059; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574481 | 64574481 | | | 64574481 | - | | |
NM_001370259.2(MEN1):c.912+1G>A | 4221 | MEN1 | Pathogenic | 398124437 | RCV000082339|RCV000491428|RCV001382549; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574482 | 64574482 | | | 11:g.64574482C>T | ClinGen:CA009649 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.912+1G>C | 4221 | MEN1 | Pathogenic | 398124437 | RCV000490972|RCV000552470; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574482 | 64574482 | | | 11:g.64574482C>G | ClinGen:CA381183474 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.912G>A (p.Lys304=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1592646211 | RCV001018904|RCV001000963; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574483 | 64574483 | | | 11:g.64574483C>T | - | | |
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn) | 4221 | MEN1 | Likely pathogenic | 1592646211 | RCV001175140; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574483 | 64574483 | | | 11:g.64574483C>A | - | | |
NM_001370259.2(MEN1):c.910A>G (p.Lys304Glu) | 4221 | MEN1 | Uncertain significance | 1941774610 | RCV001208050|RCV003163576|RCV003332303; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64574485 | 64574485 | | | 11:g.64574485T>C | - | | |
NM_001370259.2(MEN1):c.909C>T (p.His303=) | 4221 | MEN1 | Likely benign | 878855200 | RCV000230220|RCV002444926; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574486 | 64574486 | | | NC_000011.9:g.64574486G>A | ClinGen:CA10582936 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.908A>G (p.His303Arg) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 373805140 | RCV000819277|RCV002372330; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574487 | 64574487 | | | 11:g.64574487T>C | - | | |
NM_001370259.2(MEN1):c.907C>T (p.His303Tyr) | 4221 | MEN1 | Uncertain significance | 1941775165 | RCV001299046|RCV002447280; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574488 | 64574488 | | | 64574488 | - | | |
NM_001370259.2(MEN1):c.906C>T (p.Tyr302=) | 4221 | MEN1 | Likely benign | 1592646265 | RCV001398447; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574489 | 64574489 | | | 11:g.64574489G>A | - | | |
NM_001370259.2(MEN1):c.903C>T (p.Leu301=) | 4221 | MEN1 | Likely benign | 1592646283 | RCV001466277|RCV002372597; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574492 | 64574492 | | | 11:g.64574492G>A | - | | |
NM_001370259.2(MEN1):c.903C>G (p.Leu301=) | 4221 | MEN1 | Likely benign | 1592646283 | RCV001484984|RCV003382609; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574492 | 64574492 | | | 64574492 | - | | |
NM_001370259.2(MEN1):c.902T>C (p.Leu301Pro) | 4221 | MEN1 | Uncertain significance | 2136127925 | RCV001360730; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574493 | 64574493 | | | 64574493 | - | | |
NM_001370259.2(MEN1):c.901C>A (p.Leu301Ile) | 4221 | MEN1 | Uncertain significance | 1941775680 | RCV001056839; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574494 | 64574494 | | | 11:g.64574494G>T | - | | |
NM_001370259.2(MEN1):c.900C>T (p.Thr300=) | 4221 | MEN1 | Likely benign | 1592646297 | RCV001489746|RCV002372618; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574495 | 64574495 | | | 11:g.64574495G>A | - | | |
NM_001370259.2(MEN1):c.899C>T (p.Thr300Ile) | 4221 | MEN1 | Uncertain significance | 1941776482 | RCV001211267|RCV002375161|RCV003314679; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C5669877 | 11 | 64574496 | 64574496 | | | 11:g.64574496G>A | - | | |
NM_001370259.2(MEN1):c.898A>T (p.Thr300Ser) | 4221 | MEN1 | Uncertain significance | 1592646309 | RCV001018589|RCV001363994; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574497 | 64574497 | | | 11:g.64574497T>A | - | | |
NM_001370259.2(MEN1):c.897C>T (p.Leu299=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1409781409 | RCV000940816|RCV001818913; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64574498 | 64574498 | | | 11:g.64574498G>A | - | | |
NM_001370259.2(MEN1):c.895C>G (p.Leu299Val) | 4221 | MEN1 | Uncertain significance | 1592646339 | RCV001018545|RCV002549479; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574500 | 64574500 | | | 11:g.64574500G>C | - | | |
NM_001370259.2(MEN1):c.895C>A (p.Leu299Ile) | 4221 | MEN1 | Uncertain significance | 1592646339 | RCV001231823|RCV002375235; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574500 | 64574500 | | | 11:g.64574500G>T | - | | |
NM_001370259.2(MEN1):c.894A>C (p.Pro298=) | 4221 | MEN1 | Likely benign | -1 | RCV003034098; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574501 | 64574501 | | | | - | | |
NM_001370259.2(MEN1):c.893C>T (p.Pro298Leu) | 4221 | MEN1 | Uncertain significance | 2136128195 | RCV002025174|RCV002442991; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574502 | 64574502 | | | 64574502 | - | | |
NM_001370259.2(MEN1):c.892C>G (p.Pro298Ala) | 4221 | MEN1 | Uncertain significance | 1555165268 | RCV000632085|RCV002377359; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574503 | 64574503 | | | NC_000011.9:g.64574503G>C | ClinGen:CA381183520 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.890A>G (p.Asp297Gly) | 4221 | MEN1 | Uncertain significance | 1592646361 | RCV001018488|RCV001212724; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574505 | 64574505 | | | 11:g.64574505T>C | - | | |
NM_001370259.2(MEN1):c.886C>T (p.Pro296Ser) | 4221 | MEN1 | Uncertain significance | 1941777494 | RCV001307785; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574509 | 64574509 | | | 64574509 | - | | |
NM_001370259.2(MEN1):c.885G>A (p.Arg295=) | 4221 | MEN1 | Likely benign | -1 | RCV002886590; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574510 | 64574510 | | | | - | | |
NM_001370259.2(MEN1):c.884G>A (p.Arg295Gln) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1397110438 | RCV000544579|RCV003343896; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574511 | 64574511 | | | NC_000011.9:g.64574511C>T | ClinGen:CA381183538 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.883C>T (p.Arg295Trp) | 4221 | MEN1 | Uncertain significance | 1046929915 | RCV000470592|RCV000491071|RCV003392263; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 11 | 64574512 | 64574512 | | | NC_000011.9:g.64574512G>A | ClinGen:CA16613627 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.881G>A (p.Gly294Asp) | 4221 | MEN1 | Uncertain significance | 1941778425 | RCV001038270; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574514 | 64574514 | | | 11:g.64574514C>T | - | | |
NM_001370259.2(MEN1):c.880G>A (p.Gly294Ser) | 4221 | MEN1 | Uncertain significance | 1565645429 | RCV000686248; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574515 | 64574515 | | | NC_000011.9:g.64574515C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.879del (p.Gly294fs) | 4221 | MEN1 | Pathogenic | -1 | RCV003037406; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574516 | 64574516 | | | NC_000011.9:g.64574516del | - | | |
NM_001370259.2(MEN1):c.877C>G (p.Pro293Ala) | 4221 | MEN1 | Uncertain significance | 2136128745 | RCV001884055; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574518 | 64574518 | | | 64574518 | - | | |
NM_001370259.2(MEN1):c.877C>T (p.Pro293Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV002843469; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574518 | 64574518 | | | NC_000011.9:g.64574518G>A | - | | |
NM_001370259.2(MEN1):c.876C>T (p.Thr292=) | 4221 | MEN1 | Likely benign | 756782257 | RCV001413493|RCV002377644; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574519 | 64574519 | | | 64574519 | - | | |
NM_001370259.2(MEN1):c.876C>G (p.Thr292=) | 4221 | MEN1 | Likely benign | 756782257 | RCV002193835|RCV002373033; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574519 | 64574519 | | | 64574519 | - | | |
NM_001370259.2(MEN1):c.875C>T (p.Thr292Ile) | 4221 | MEN1 | Uncertain significance | 780646691 | RCV001058116|RCV002374938; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574520 | 64574520 | | | 11:g.64574520G>A | - | | |
NM_001370259.2(MEN1):c.872C>G (p.Pro291Arg) | 4221 | MEN1 | Uncertain significance | 745857419 | RCV001885742|RCV002370422; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574523 | 64574523 | | | 64574523 | - | | |
NM_001370259.2(MEN1):c.871C>G (p.Pro291Ala) | 4221 | MEN1 | Uncertain significance | 1413160325 | RCV001978411; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574524 | 64574524 | | | 64574524 | - | | |
NM_001370259.2(MEN1):c.871C>T (p.Pro291Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV003105139; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574524 | 64574524 | | | NC_000011.9:g.64574524G>A | - | | |
NM_001370259.2(MEN1):c.869A>C (p.Glu290Ala) | 4221 | MEN1 | Uncertain significance | 1213891703 | RCV000532389|RCV001821504|RCV002377017; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574526 | 64574526 | | | NC_000011.9:g.64574526T>G | ClinGen:CA381183566 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.869A>T (p.Glu290Val) | 4221 | MEN1 | Uncertain significance | 1213891703 | RCV000797291|RCV002370093; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574526 | 64574526 | | | 11:g.64574526T>A | - | | |
NM_001370259.2(MEN1):c.869A>G (p.Glu290Gly) | 4221 | MEN1 | Uncertain significance | -1 | RCV003064156; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574526 | 64574526 | | | NC_000011.9:g.64574526T>C | - | | |
NM_001370259.2(MEN1):c.868G>A (p.Glu290Lys) | 4221 | MEN1 | Uncertain significance | 1335117435 | RCV000800612|RCV001018178; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574527 | 64574527 | | | 11:g.64574527C>T | - | | |
NM_001370259.2(MEN1):c.868G>C (p.Glu290Gln) | 4221 | MEN1 | Uncertain significance | 1335117435 | RCV001303715; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574527 | 64574527 | | | 64574527 | - | | |
NM_001370259.2(MEN1):c.864G>A (p.Glu288=) | 4221 | MEN1 | Likely benign | 769748450 | RCV002082950|RCV002372878; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574531 | 64574531 | | | 64574531 | - | | |
NM_001370259.2(MEN1):c.862G>T (p.Glu288Ter) | 4221 | MEN1 | Pathogenic | -1 | RCV003032284; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574533 | 64574533 | | | NC_000011.9:g.64574533C>A | - | | |
NM_001370259.2(MEN1):c.861G>A (p.Glu287=) | 4221 | MEN1 | Likely benign | 1336658836 | RCV000924640|RCV002445030; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574534 | 64574534 | | | 11:g.64574534C>T | - | | |
NM_001370259.2(MEN1):c.859G>T (p.Glu287Ter) | 4221 | MEN1 | Pathogenic | 2136129231 | RCV001872787; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574536 | 64574536 | | | 64574536 | - | | |
NM_001370259.2(MEN1):c.856C>T (p.Leu286=) | 4221 | MEN1 | Likely benign | 542321016 | RCV000556338|RCV000574622; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574539 | 64574539 | | | 11:g.64574539G>A | ClinGen:CA061722 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.854A>C (p.Asp285Ala) | 4221 | MEN1 | Uncertain significance | 2136129327 | RCV001969519; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574541 | 64574541 | | | 64574541 | - | | |
NM_001370259.2(MEN1):c.852A>G (p.Ala284=) | 4221 | MEN1 | Likely benign | 2136129359 | RCV002076478|RCV002443206; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574543 | 64574543 | | | 64574543 | - | | |
NM_001370259.2(MEN1):c.851C>A (p.Ala284Glu) | 4221 | MEN1 | Likely pathogenic | 1565645563 | RCV000695678; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574544 | 64574544 | | | NC_000011.9:g.64574544G>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.849G>A (p.Leu283=) | 4221 | MEN1 | Likely benign | 1592646641 | RCV001017915|RCV001413430; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574546 | 64574546 | | | 11:g.64574546C>T | - | | |
NM_001370259.2(MEN1):c.849G>T (p.Leu283=) | 4221 | MEN1 | Uncertain significance | 1592646641 | RCV001103404|RCV001103403; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574546 | 64574546 | | | 11:g.64574546C>A | - | | |
NM_001370259.2(MEN1):c.846C>T (p.Asn282=) | 4221 | MEN1 | Likely benign | 2136129516 | RCV002163359; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574549 | 64574549 | | | 64574549 | - | | |
NM_001370259.2(MEN1):c.845A>G (p.Asn282Ser) | 4221 | MEN1 | Uncertain significance | 1592646672 | RCV001017836|RCV002550833; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574550 | 64574550 | | | 11:g.64574550T>C | - | | |
NM_001370259.2(MEN1):c.843G>C (p.Gly281=) | 4221 | MEN1 | Benign/Likely benign | 562620826 | RCV000461482|RCV000569444; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574552 | 64574552 | | | NC_000011.9:g.64574552C>G | ClinGen:CA061712 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 368619946 | RCV000797745|RCV001017703|RCV003424344; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 11 | 64574556 | 64574556 | | | 11:g.64574556A>G | - | | |
NM_001370259.2(MEN1):c.839T>A (p.Leu280Ter) | 4221 | MEN1 | Pathogenic | -1 | RCV003047625; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574556 | 64574556 | | | NC_000011.9:g.64574556A>T | - | | |
NM_001370259.2(MEN1):c.837C>T (p.Ala279=) | 4221 | MEN1 | Likely benign | 762092675 | RCV000226318|RCV001017650; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574558 | 64574558 | | | NC_000011.9:g.64574558G>A | ClinGen:CA061700 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.837del (p.Ala279_Leu280insTer) | 4221 | MEN1 | Pathogenic | -1 | RCV003029869; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574558 | 64574558 | | | NC_000011.9:g.64574559del | - | | |
NM_001370259.2(MEN1):c.833T>G (p.Met278Arg) | 4221 | MEN1 | Uncertain significance | 1592646765 | RCV000810806; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574562 | 64574562 | | | 11:g.64574562A>C | - | | |
NM_001370259.2(MEN1):c.832A>G (p.Met278Val) | 4221 | MEN1 | Uncertain significance | 1475401656 | RCV001968522; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574563 | 64574563 | | | 64574563 | - | | |
NM_001370259.2(MEN1):c.831del (p.Met278fs) | 4221 | MEN1 | Pathogenic | 2136129908 | RCV001385369; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574564 | 64574564 | | | 64574563 | - | | |
NM_001370259.2(MEN1):c.830C>A (p.Pro277His) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1060499973 | RCV000471154|RCV000568673|RCV001824785; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 11 | 64574565 | 64574565 | | | NC_000011.9:g.64574565G>T | ClinGen:CA16613405 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.830C>T (p.Pro277Leu) | 4221 | MEN1 | Uncertain significance | 1060499973 | RCV000539049|RCV001811031; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64574565 | 64574565 | | | 11:g.64574565G>A | ClinGen:CA381183763 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.829_830insTAGAGGTTC (p.Tyr276_Pro277insLeuGluVal) | 4221 | MEN1 | Uncertain significance | 2136130018 | RCV002022980; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574565 | 64574566 | | | 64574565 | - | | |
NM_001370259.2(MEN1):c.828C>T (p.Tyr276=) | 4221 | MEN1 | Likely benign | 1060503789 | RCV000456598|RCV000562412; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574567 | 64574567 | | | NC_000011.9:g.64574567G>A | ClinGen:CA16613406 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter) | 4221 | MEN1 | Pathogenic | 1060503789 | RCV000484977|RCV000491793|RCV000823755; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574567 | 64574567 | | | NC_000011.9:g.64574567G>T | ClinGen:CA16619360 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.827A>G (p.Tyr276Cys) | 4221 | MEN1 | Uncertain significance | 1555165327 | RCV000565609|RCV000632097; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574568 | 64574568 | | | 11:g.64574568T>C | ClinGen:CA381183783 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.825-1_825del | 4221 | MEN1 | Likely pathogenic | 2136130282 | RCV002043184; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574570 | 64574571 | | | 64574569 | - | | |
NM_001370259.2(MEN1):c.825G>A (p.Arg275=) | 4221 | MEN1 | Uncertain significance | -1 | RCV003047246; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574570 | 64574570 | | | | - | | |
NM_001370259.2(MEN1):c.825-4C>A | 4221 | MEN1 | Likely benign | 2136130374 | RCV002157069; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574574 | 64574574 | | | 64574574 | - | | |
NM_001370259.2(MEN1):c.825-8T>C | 4221 | MEN1 | Likely benign | 1555165330 | RCV000526614; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574578 | 64574578 | | | NC_000011.9:g.64574578A>G | ClinGen:CA658656167 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.825-9C>A | 4221 | MEN1 | Likely benign | 1460138191 | RCV002213968; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574579 | 64574579 | | | 64574579 | - | | |
NM_001370259.2(MEN1):c.825-10C>G | 4221 | MEN1 | Likely benign | 999121619 | RCV000419286|RCV000460067; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574580 | 64574580 | | | 11:g.64574580G>C | ClinGen:CA16606354 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.825-10C>T | 4221 | MEN1 | Likely benign | -1 | RCV003054552; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574580 | 64574580 | | | NC_000011.9:g.64574580G>A | - | | |
NM_001370259.2(MEN1):c.825-11T>C | 4221 | MEN1 | Likely benign | 375364751 | RCV002112704; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574581 | 64574581 | | | 64574581 | - | | |
NM_001370259.2(MEN1):c.825-14T>C | 4221 | MEN1 | Likely benign | 773447061 | RCV002130110; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574584 | 64574584 | | | 64574584 | - | | |
NM_001370259.2(MEN1):c.824+19C>G | 4221 | MEN1 | Likely benign | 1941789202 | RCV002156656; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574632 | 64574632 | | | 64574632 | - | | |
NM_001370259.2(MEN1):c.824+18G>A | 4221 | MEN1 | Likely benign | -1 | RCV003093471; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574633 | 64574633 | | | NC_000011.9:g.64574633C>T | - | | |
NM_001370259.2(MEN1):c.824+17G>C | 4221 | MEN1 | Likely benign | 1271023864 | RCV002206638; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574634 | 64574634 | | | 64574634 | - | | |
NM_001370259.2(MEN1):c.824+16T>A | 4221 | MEN1 | Likely benign | -1 | RCV002616961; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574635 | 64574635 | | | NC_000011.9:g.64574635A>T | - | | |
NM_001370259.2(MEN1):c.824+12del | 4221 | MEN1 | Likely benign | 2136132270 | RCV002149395; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574639 | 64574639 | | | 64574638 | - | | |
NM_001370259.2(MEN1):c.824+12G>A | 4221 | MEN1 | Likely benign | 768402169 | RCV002137063; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574639 | 64574639 | | | 64574639 | - | | |
NM_001370259.2(MEN1):c.824+9A>G | 4221 | MEN1 | Likely benign | 774166628 | RCV002065477; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574642 | 64574642 | | | 11:g.64574642T>C | - | | |
NM_001370259.2(MEN1):c.824+8G>T | 4221 | MEN1 | Likely benign | 2136132354 | RCV002161957; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574643 | 64574643 | | | 64574643 | - | | |
NM_001370259.2(MEN1):c.824+3C>G | 4221 | MEN1 | Uncertain significance | 1941790535 | RCV001066013; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574648 | 64574648 | | | 11:g.64574648G>C | - | | |
NM_001370259.2(MEN1):c.824+1G>A | 4221 | MEN1 | Pathogenic | 1060499976 | RCV000018190|RCV002426511; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574650 | 64574650 | | | NC_000011.9:g.64574650C>T | OMIM:613733.0034 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.824+1G>T | 4221 | MEN1 | Pathogenic | 1060499976 | RCV000466988; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574650 | 64574650 | | | NC_000011.9:g.64574650C>A | ClinGen:CA16613409 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys) | 4221 | MEN1 | Pathogenic | 1187634059 | RCV000820746|RCV002427053; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574651 | 64574651 | | | 11:g.64574651C>T | - | | |
NM_001370259.2(MEN1):c.823del (p.Arg275fs) | 4221 | MEN1 | Pathogenic | 1555165360 | RCV000632135|RCV001269679; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64574652 | 64574652 | | | NC_000011.9:g.64574654del | ClinGen:CA658797670 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.823A>G (p.Arg275Gly) | 4221 | MEN1 | Uncertain significance | 1592647235 | RCV000793594|RCV002406733; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574652 | 64574652 | | | 11:g.64574652T>C | - | | |
NM_001370259.2(MEN1):c.820G>A (p.Glu274Lys) | 4221 | MEN1 | Uncertain significance | 1941791593 | RCV001215368; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574655 | 64574655 | | | 11:g.64574655C>T | - | | |
NM_001370259.2(MEN1):c.819G>T (p.Leu273=) | 4221 | MEN1 | Likely benign | 748369241 | RCV000232403|RCV001027267; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574656 | 64574656 | | | NC_000011.9:g.64574656C>A | ClinGen:CA061617 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro) | 4221 | MEN1 | Likely pathogenic | 1592647281 | RCV000804447|RCV001269820; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64574657 | 64574657 | | | 11:g.64574657A>G | - | | |
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg) | 4221 | MEN1 | Likely pathogenic | -1 | RCV002820945; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574657 | 64574657 | | | NC_000011.9:g.64574657A>C | - | | |
NM_001370259.2(MEN1):c.815A>G (p.His272Arg) | 4221 | MEN1 | Uncertain significance | -1 | RCV002846460; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574660 | 64574660 | | | NC_000011.9:g.64574660T>C | - | | |
NM_001370259.2(MEN1):c.812G>C (p.Gly271Ala) | 4221 | MEN1 | Uncertain significance | 1941792670 | RCV001207821; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574663 | 64574663 | | | 11:g.64574663C>G | - | | |
NM_001370259.2(MEN1):c.811G>A (p.Gly271Arg) | 4221 | MEN1 | Uncertain significance | 1565645918 | RCV000705180; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574664 | 64574664 | | | NC_000011.9:g.64574664C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.811G>C (p.Gly271Arg) | 4221 | MEN1 | Uncertain significance | -1 | RCV002305361; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574664 | 64574664 | | | 64574664 | - | | |
NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro) | 4221 | MEN1 | Uncertain significance | 1592647333 | RCV001027173|RCV001232103|RCV003106101; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64574666 | 64574666 | | | 11:g.64574666A>G | - | | |
NM_001370259.2(MEN1):c.808C>T (p.Leu270=) | 4221 | MEN1 | Likely benign | 371556177 | RCV000928175|RCV002416158; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574667 | 64574667 | | | 11:g.64574667G>A | - | | |
NM_001370259.2(MEN1):c.808C>A (p.Leu270Met) | 4221 | MEN1 | Uncertain significance | 371556177 | RCV002045881; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574667 | 64574667 | | | 64574667 | - | | |
NM_001370259.2(MEN1):c.807C>T (p.Asp269=) | 4221 | MEN1 | Likely benign | 2136133470 | RCV001482190; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574668 | 64574668 | | | 64574668 | - | | |
NM_001370259.2(MEN1):c.806A>G (p.Asp269Gly) | 4221 | MEN1 | Uncertain significance | 1941793463 | RCV001071802; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574669 | 64574669 | | | 11:g.64574669T>C | - | | |
NM_001370259.2(MEN1):c.805G>A (p.Asp269Asn) | 4221 | MEN1 | Uncertain significance | 878855199 | RCV000228494; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574670 | 64574670 | | | NC_000011.9:g.64574670C>T | ClinGen:CA10582937 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 773500082 | RCV000199390|RCV001027095|RCV003148675; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64574672 | 64574672 | | | NC_000011.9:g.64574672T>C | ClinGen:CA061607 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.801C>G (p.Leu267=) | 4221 | MEN1 | Likely benign | 760850856 | RCV000697467|RCV002422540; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574674 | 64574674 | | | NC_000011.9:g.64574674G>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter) | 4221 | MEN1 | Pathogenic | 1592647398 | RCV000808722|RCV001269681; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64574680 | 64574680 | | | 11:g.64574680C>T | - | | |
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter) | 4221 | MEN1 | Pathogenic | 2136134076 | RCV002000025|RCV002423132; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574681 | 64574681 | | | 64574681 | - | | |
NM_001370259.2(MEN1):c.792C>G (p.Leu264=) | 4221 | MEN1 | Likely benign | 2136134213 | RCV001410365|RCV002420917; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574683 | 64574683 | | | 64574683 | - | | |
NM_001370259.2(MEN1):c.792C>T (p.Leu264=) | 4221 | MEN1 | Likely benign | 2136134213 | RCV002208835; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574683 | 64574683 | | | 64574683 | - | | |
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro) | 4221 | MEN1 | Pathogenic | 1941794175 | RCV001211834; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574684 | 64574684 | | | 11:g.64574684A>G | - | | |
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1114167502 | RCV000491663|RCV000811434; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574687 | 64574687 | | | NC_000011.9:g.64574687A>G | ClinGen:CA381183996 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.786G>A (p.Lys262=) | 4221 | MEN1 | Likely benign | -1 | RCV002412271|RCV003099766; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574689 | 64574689 | | | | - | | |
NM_001370259.2(MEN1):c.785A>G (p.Lys262Arg) | 4221 | MEN1 | Uncertain significance | 1555165373 | RCV000561461|RCV000632100; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574690 | 64574690 | | | NC_000011.9:g.64574690T>C | ClinGen:CA381184013 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.784-1G>C | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1555165377 | RCV000520872|RCV000794756; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574692 | 64574692 | | | NC_000011.9:g.64574692C>G | ClinGen:CA381184025 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.784-1G>A | 4221 | MEN1 | Likely pathogenic | 1555165377 | RCV001043139; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574692 | 64574692 | | | 11:g.64574692C>T | - | | |
NM_001370259.2(MEN1):c.784-7C>G | 4221 | MEN1 | Likely benign | 1313431495 | RCV001429713; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574698 | 64574698 | | | 64574698 | - | | |
NM_001370259.2(MEN1):c.784-7C>A | 4221 | MEN1 | Likely benign | -1 | RCV002801810; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574698 | 64574698 | | | NC_000011.9:g.64574698G>T | - | | |
NM_001370259.2(MEN1):c.784-8G>T | 4221 | MEN1 | Likely benign | 766553550 | RCV002200169; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574699 | 64574699 | | | 64574699 | - | | |
NM_001370259.2(MEN1):c.784-8G>C | 4221 | MEN1 | Likely benign | -1 | RCV002862510; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574699 | 64574699 | | | NC_000011.9:g.64574699C>G | - | | |
NM_001370259.2(MEN1):c.784-9G>A | 4221 | MEN1 | Pathogenic/Likely pathogenic | 794728625 | RCV000182415|RCV000205749|RCV002408796; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64574700 | 64574700 | | | NC_000011.9:g.64574700C>T | ClinGen:CA009635,OMIM:613733.0024 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.784-9G>C | 4221 | MEN1 | Likely benign | 794728625 | RCV001392515; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574700 | 64574700 | | | 64574700 | - | | |
NM_001370259.2(MEN1):c.784-10C>T | 4221 | MEN1 | Benign/Likely benign | 71526470 | RCV000475847|RCV003387850; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64574701 | 64574701 | | | NC_000011.9:g.64574701G>A | ClinGen:CA061567 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.784-10C>A | 4221 | MEN1 | Uncertain significance | 71526470 | RCV000632083; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574701 | 64574701 | | | NC_000011.9:g.64574701G>T | ClinGen:CA658797671 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.784-19TC[2] | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 764290037 | RCV000182400|RCV000409712|RCV001529754; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64574705 | 64574706 | | | NC_000011.9:g.64574706AG[2] | ClinGen:CA009629 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.784-16C>T | 4221 | MEN1 | Likely benign | 754257177 | RCV000662550; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574707 | 64574707 | | | 11:g.64574707G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.784-16C>G | 4221 | MEN1 | Likely benign | 754257177 | RCV002200367; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574707 | 64574707 | | | 64574707 | - | | |
NM_001370259.2(MEN1):c.784-18C>G | 4221 | MEN1 | Likely benign | -1 | RCV003035135; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64574709 | 64574709 | | | NC_000011.9:g.64574709G>C | - | | |
NM_001370259.2(MEN1):c.784-129T>A | 4221 | MEN1 | Benign/Likely benign | 536461697 | RCV002155423|RCV003233039; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540 | 11 | 64574820 | 64574820 | | | 64574820 | - | | |
NM_001370259.2(MEN1):c.783+16A>G | 4221 | MEN1 | Likely benign | -1 | RCV002838016; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575008 | 64575008 | | | NC_000011.9:g.64575008T>C | - | | |
NM_001370259.2(MEN1):c.783+10G>C | 4221 | MEN1 | Likely benign | 2136139524 | RCV001496763; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575014 | 64575014 | | | 64575014 | - | | |
NM_001370259.2(MEN1):c.783+8C>A | 4221 | MEN1 | Likely benign | 2136139552 | RCV002155143; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575016 | 64575016 | | | 64575016 | - | | |
NM_001370259.2(MEN1):c.783+7G>A | 4221 | MEN1 | Likely benign | 1060503793 | RCV001417870; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575017 | 64575017 | | | NC_000011.9:g.64575017C>T | ClinGen:CA16613411 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.783+5G>T | 4221 | MEN1 | Uncertain significance | 1592648530 | RCV001041154; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575019 | 64575019 | | | 11:g.64575019C>A | - | | |
NM_001370259.2(MEN1):c.783+3G>A | 4221 | MEN1 | Likely benign | -1 | RCV002412119|RCV003099758; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575021 | 64575021 | | | 64575021 | - | | |
NM_001370259.2(MEN1):c.783+2del | 4221 | MEN1 | Likely pathogenic | -1 | RCV002797049; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575022 | 64575022 | | | NC_000011.9:g.64575022del | - | | |
NM_001370259.2(MEN1):c.783+1G>A | 4221 | MEN1 | Pathogenic | 794728652 | RCV000491531|RCV000515529|RCV000506752|RCV000697334; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575023 | 64575023 | | | NC_000011.9:g.64575023C>T | ClinGen:CA381184101 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.783+1G>C | 4221 | MEN1 | Pathogenic | 794728652 | RCV001000126|RCV002409331; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575023 | 64575023 | | | 11:g.64575023C>G | - | | |
NM_001370259.2(MEN1):c.770TGCAGC[3] (p.257LQ[3]) | 4221 | MEN1 | Likely pathogenic | 1555165485 | RCV000632129; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575025 | 64575026 | | | NC_000011.9:g.64575027CTGCAG[3] | ClinGen:CA658797672,OMIM:613733.0030 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter) | 4221 | MEN1 | Pathogenic | 1057520733 | RCV000419478|RCV000554384|RCV002411313; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575026 | 64575026 | | | 11:g.64575026G>A | ClinGen:CA16606275 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter) | 4221 | MEN1 | Pathogenic | 104894266 | RCV000018170|RCV000491298; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575029 | 64575029 | | | 11:g.64575029G>A | ClinGen:CA009615,OMIM:613733.0014 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.778C>G (p.Gln260Glu) | 4221 | MEN1 | Uncertain significance | 104894266 | RCV001885690; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575029 | 64575029 | | | 64575029 | - | | |
NM_001370259.2(MEN1):c.777G>A (p.Leu259=) | 4221 | MEN1 | Likely benign | 2136139885 | RCV002166589; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575030 | 64575030 | | | 64575030 | - | | |
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 374659656 | RCV000034788|RCV000379424|RCV000463800|RCV000573824; | N | MedGen:C3661900|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575033 | 64575033 | | | 11:g.64575033C>G | ClinGen:CA009610 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.773A>G (p.Gln258Arg) | 4221 | MEN1 | Uncertain significance | -1 | RCV002301732; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575034 | 64575034 | | | 64575034 | - | | |
NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter) | 4221 | MEN1 | Pathogenic | 886039416 | RCV000255776|RCV000632105; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575035 | 64575035 | | | 11:g.64575035G>A | ClinGen:CA10588531 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.772C>G (p.Gln258Glu) | 4221 | MEN1 | Uncertain significance | 886039416 | RCV000690002|RCV001026760; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575035 | 64575035 | | | NC_000011.9:g.64575035G>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs) | 4221 | MEN1 | Likely pathogenic | 1555165488 | RCV000664332; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575038 | 64575039 | | | NC_000011.9:g.64575040_64575046dup | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.769C>T (p.Leu257=) | 4221 | MEN1 | Likely benign | -1 | RCV002400556|RCV003099718; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575038 | 64575038 | | | | - | | |
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 878855198 | RCV000234599|RCV001269984; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64575041 | 64575041 | | | NC_000011.9:g.64575041G>A | ClinGen:CA10582938 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys) | 4221 | MEN1 | Uncertain significance | 104894268 | RCV000018176|RCV001753420; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64575044 | 64575044 | | | 11:g.64575044C>T | ClinGen:CA009605,UniProtKB:O00255#VAR_005448,OMIM:613733.0020 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 104894268 | RCV000541629|RCV000757459; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64575044 | 64575044 | | | NC_000011.9:g.64575044C>G | ClinGen:CA381184221 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 199909967 | RCV000196618|RCV000491869|RCV001092063|RCV001103406|RCV002271458; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:CN169374 | 11 | 64575045 | 64575045 | | | NC_000011.9:g.64575045C>T | ClinGen:CA061523 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.761T>C (p.Leu254Pro) | 4221 | MEN1 | Uncertain significance | -1 | RCV002297105; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575046 | 64575046 | | | 64575046 | - | | |
NM_001370259.2(MEN1):c.760C>T (p.Leu254=) | 4221 | MEN1 | Likely benign | 1194394888 | RCV000891026|RCV001026620; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575047 | 64575047 | | | 11:g.64575047G>A | - | | |
NM_001370259.2(MEN1):c.759G>T (p.Ser253=) | 4221 | MEN1 | Likely benign | 201829546 | RCV000199841|RCV000568935; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575048 | 64575048 | | | 11:g.64575048C>A | ClinGen:CA061514 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.759G>A (p.Ser253=) | 4221 | MEN1 | Benign/Likely benign | 201829546 | RCV000231807|RCV001026605; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575048 | 64575048 | | | NC_000011.9:g.64575048C>T | ClinGen:CA061508 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter) | 4221 | MEN1 | Likely pathogenic | 386134259 | RCV000030209; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575049 | 64575049 | | | 11:g.64575049G>T | ClinGen:CA009595 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 386134259 | RCV000491434|RCV000460727|RCV002253274; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64575049 | 64575049 | | | NC_000011.9:g.64575049G>A | ClinGen:CA009601 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.758C>G (p.Ser253Trp) | 4221 | MEN1 | Pathogenic | 386134259 | RCV000470590; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575049 | 64575049 | | | NC_000011.9:g.64575049G>C | ClinGen:CA16613469 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.758del (p.Ser253fs) | 4221 | MEN1 | Pathogenic | 1592648765 | RCV000800811; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575049 | 64575049 | | | 11:g.64575049_64575049del | - | | |
NM_001370259.2(MEN1):c.756C>T (p.Asp252=) | 4221 | MEN1 | Likely benign | -1 | RCV002394067|RCV003103415; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575051 | 64575051 | | | | - | | |
NM_001370259.2(MEN1):c.754G>T (p.Asp252Tyr) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 770368608 | RCV000228896|RCV002392720|RCV003401188; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 11 | 64575053 | 64575053 | | | 11:g.64575053C>A | ClinGen:CA061503 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.754G>C (p.Asp252His) | 4221 | MEN1 | Uncertain significance | 770368608 | RCV000704960|RCV001026555; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575053 | 64575053 | | | NC_000011.9:g.64575053C>G | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.754G>A (p.Asp252Asn) | 4221 | MEN1 | Uncertain significance | 770368608 | RCV001026554|RCV001204488; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575053 | 64575053 | | | 11:g.64575053C>T | - | | |
NM_001370259.2(MEN1):c.753C>T (p.Thr251=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 763326062 | RCV000491168|RCV000828127|RCV001086629|RCV001105326; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64575054 | 64575054 | | | NC_000011.9:g.64575054G>A | ClinGen:CA061487 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala) | 4221 | MEN1 | Uncertain significance | -1 | RCV003470096; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575056 | 64575056 | | | | - | | |
NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs) | 4221 | MEN1 | Pathogenic | 1592648830 | RCV000796395; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575057 | 64575058 | | | 11:g.64575057_64575058insTGCA | - | | |
NM_001370259.2(MEN1):c.746T>A (p.Leu249Gln) | 4221 | MEN1 | Uncertain significance | 1824195184 | RCV001340765; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575061 | 64575061 | | | 64575061 | - | | |
NM_001370259.2(MEN1):c.739_745del (p.Ile247fs) | 4221 | MEN1 | Pathogenic | 1555165503 | RCV000524643; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575062 | 64575068 | | | NC_000011.9:g.64575064_64575070del | ClinGen:CA658656173 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.745C>A (p.Leu249Met) | 4221 | MEN1 | Uncertain significance | 2136140837 | RCV001985040; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575062 | 64575062 | | | 64575062 | - | | |
NM_001370259.2(MEN1):c.744C>T (p.Asp248=) | 4221 | MEN1 | Likely benign | 2136140889 | RCV002104933; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575063 | 64575063 | | | 64575063 | - | | |
NM_001370259.2(MEN1):c.741T>C (p.Ile247=) | 4221 | MEN1 | Likely benign | 1592648877 | RCV001460060; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575066 | 64575066 | | | 11:g.64575066A>G | - | | |
NM_001370259.2(MEN1):c.740T>C (p.Ile247Thr) | 4221 | MEN1 | Uncertain significance | 1043531053 | RCV001026403|RCV001053547|RCV003238272; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64575067 | 64575067 | | | 11:g.64575067A>G | - | | |
NM_001370259.2(MEN1):c.739dup (p.Ile247fs) | 4221 | MEN1 | Pathogenic | 2136141104 | RCV001387835; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575067 | 64575068 | | | 64575067 | - | | |
NM_001370259.2(MEN1):c.739A>G (p.Ile247Val) | 4221 | MEN1 | Uncertain significance | 1555165508 | RCV000632132; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575068 | 64575068 | | | NC_000011.9:g.64575068T>C | ClinGen:CA381184355 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.736T>G (p.Ser246Ala) | 4221 | MEN1 | Uncertain significance | 1175283759 | RCV000548928|RCV003159749; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575071 | 64575071 | | | NC_000011.9:g.64575071A>C | ClinGen:CA381184371 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.734del (p.Pro245fs) | 4221 | MEN1 | Pathogenic | 1565646772 | RCV000761296; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575073 | 64575073 | | | NC_000011.9:g.64575075del | - | | |
NM_001370259.2(MEN1):c.733C>G (p.Pro245Ala) | 4221 | MEN1 | Uncertain significance | 1373521153 | RCV001230337; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575074 | 64575074 | | | 11:g.64575074G>C | - | | |
NM_001370259.2(MEN1):c.729C>T (p.Ile243=) | 4221 | MEN1 | Likely benign | 1353237754 | RCV000536420|RCV003159748; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575078 | 64575078 | | | NC_000011.9:g.64575078G>A | ClinGen:CA474983796 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.726C>T (p.Ala242=) | 4221 | MEN1 | Likely benign | 1198651608 | RCV000528262|RCV002384058; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575081 | 64575081 | | | 11:g.64575081G>A | ClinGen:CA474983798 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 2136141530 | RCV001378938; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575082 | 64575082 | | | 64575082 | - | | |
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs) | 4221 | MEN1 | Pathogenic | 1592649069 | RCV001026184|RCV001862359; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575083 | 64575084 | | | 11:g.64575083_64575084del | - | | |
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 794728624 | RCV000461795|RCV000491344|RCV001812172; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64575085 | 64575085 | | | NC_000011.9:g.64575085C>T | ClinGen:CA009579 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg) | 4221 | MEN1 | Likely pathogenic | 1592649108 | RCV000816677|RCV002293487|RCV002372308; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575086 | 64575086 | | | 11:g.64575086A>G | - | | |
NM_001370259.2(MEN1):c.720G>T (p.Val240=) | 4221 | MEN1 | Likely benign | 1555165534 | RCV000547687; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575087 | 64575087 | | | NC_000011.9:g.64575087C>A | ClinGen:CA474983804 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.716T>C (p.Met239Thr) | 4221 | MEN1 | Uncertain significance | 1441995061 | RCV001026113|RCV002551949; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575091 | 64575091 | | | 11:g.64575091A>G | - | | |
NM_001370259.2(MEN1):c.711G>A (p.Ala237=) | 4221 | MEN1 | Likely benign | 144677807 | RCV000465578|RCV000562651; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575096 | 64575096 | | | NC_000011.9:g.64575096C>T | ClinGen:CA061472 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val) | 4221 | MEN1 | Uncertain significance | 760289964 | RCV000465273|RCV001026052; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575097 | 64575097 | | | NC_000011.9:g.64575097G>A | ClinGen:CA061467 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.706G>T (p.Val236Leu) | 4221 | MEN1 | Uncertain significance | -1 | RCV002829721; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575101 | 64575101 | | | NC_000011.9:g.64575101C>A | - | | |
NM_001370259.2(MEN1):c.702G>A (p.Met234Ile) | 4221 | MEN1 | Uncertain significance | 1448041546 | RCV000632103|RCV003302991; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575105 | 64575105 | | | NC_000011.9:g.64575105C>T | ClinGen:CA381184587 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.700A>T (p.Met234Leu) | 4221 | MEN1 | Uncertain significance | 1296948476 | RCV001217728; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575107 | 64575107 | | | 11:g.64575107T>A | - | | |
NM_001370259.2(MEN1):c.700A>G (p.Met234Val) | 4221 | MEN1 | Uncertain significance | -1 | RCV002659365; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575107 | 64575107 | | | NC_000011.9:g.64575107T>C | - | | |
NM_001370259.2(MEN1):c.698A>C (p.Lys233Thr) | 4221 | MEN1 | Uncertain significance | 1592649270 | RCV000812047; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575109 | 64575109 | | | 11:g.64575109T>G | - | | |
NM_001370259.2(MEN1):c.697A>C (p.Lys233Gln) | 4221 | MEN1 | Uncertain significance | -1 | RCV002362542|RCV003098432; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575110 | 64575110 | | | 64575110 | - | | |
NM_001370259.2(MEN1):c.696C>T (p.Arg232=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 753411991 | RCV000813377|RCV003166322; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575111 | 64575111 | | | 11:g.64575111G>A | - | | |
NM_001370259.2(MEN1):c.695G>A (p.Arg232His) | 4221 | MEN1 | Uncertain significance | 1941826992 | RCV001042600; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575112 | 64575112 | | | 11:g.64575112C>T | - | | |
NM_001370259.2(MEN1):c.694C>T (p.Arg232Cys) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1225847249 | RCV000536638|RCV001025835; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575113 | 64575113 | | | NC_000011.9:g.64575113G>A | ClinGen:CA381184625 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.693C>T (p.Asp231=) | 4221 | MEN1 | Likely benign | -1 | RCV002362416|RCV003098423; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575114 | 64575114 | | | | - | | |
NM_001370259.2(MEN1):c.691G>C (p.Asp231His) | 4221 | MEN1 | Uncertain significance | 1941827572 | RCV001056867|RCV002374934; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575116 | 64575116 | | | 11:g.64575116C>G | - | | |
NM_001370259.2(MEN1):c.690T>C (p.Cys230=) | 4221 | MEN1 | Likely benign | 2136142487 | RCV002151686; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575117 | 64575117 | | | 64575117 | - | | |
NC_000011.9:g.(?_64575120)_(64576450_?)del | 4221 | MEN1 | Pathogenic | -1 | RCV003123031; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575120 | 64576450 | | | | - | | |
NM_001370259.2(MEN1):c.686G>A (p.Arg229His) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 878855197 | RCV000233998|RCV001025749|RCV002469085; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 11 | 64575121 | 64575121 | | | NC_000011.9:g.64575121C>T | ClinGen:CA10582939 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs) | 4221 | MEN1 | Pathogenic | 1114167519 | RCV000491507|RCV001229546; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575121 | 64575122 | | | NC_000011.9:g.64575123_64575126dup | ClinGen:CA645369567 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.685C>T (p.Arg229Cys) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 754378887 | RCV000196791|RCV001025738|RCV001795326; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64575122 | 64575122 | | | 11:g.64575122G>A | ClinGen:CA061444 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.685C>A (p.Arg229Ser) | 4221 | MEN1 | Uncertain significance | 754378887 | RCV001364494; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575122 | 64575122 | | | 64575122 | - | | |
NM_001370259.2(MEN1):c.682A>G (p.Met228Val) | 4221 | MEN1 | Uncertain significance | 1060499982 | RCV000476428|RCV001025697|RCV003401443; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 11 | 64575125 | 64575125 | | | NC_000011.9:g.64575125T>C | ClinGen:CA16613629 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter) | 4221 | MEN1 | Pathogenic | 778921501 | RCV000560572|RCV001269815; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64575126 | 64575126 | | | NC_000011.9:g.64575126G>T | ClinGen:CA381184686 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.681C>T (p.Tyr227=) | 4221 | MEN1 | Likely benign | 778921501 | RCV001532640|RCV001417430|RCV002368305; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575126 | 64575126 | | | 64575126 | - | | |
NM_001370259.2(MEN1):c.676T>G (p.Ser226Ala) | 4221 | MEN1 | Uncertain significance | -1 | RCV002295122; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575131 | 64575131 | | | 64575131 | - | | |
NM_001370259.2(MEN1):c.669G>A (p.Leu223=) | 4221 | MEN1 | Likely benign | 2136143050 | RCV001412353; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575138 | 64575138 | | | 64575138 | - | | |
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro) | 4221 | MEN1 | Pathogenic | 886039415 | RCV000255095|RCV000491535|RCV001235431; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575139 | 64575139 | | | 11:g.64575139A>G | ClinGen:CA10588532 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.667C>T (p.Leu223=) | 4221 | MEN1 | Likely benign | 1592649487 | RCV001431499; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575140 | 64575140 | | | 11:g.64575140G>A | - | | |
NM_001370259.2(MEN1):c.666C>T (p.Tyr222=) | 4221 | MEN1 | Likely benign | 1555165597 | RCV002184066|RCV002363699; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575141 | 64575141 | | | 64575141 | - | | |
NM_001370259.2(MEN1):c.665A>C (p.Tyr222Ser) | 4221 | MEN1 | Uncertain significance | 1555165601 | RCV000632115; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575142 | 64575142 | | | 11:g.64575142T>G | ClinGen:CA381185215 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.664T>G (p.Tyr222Asp) | 4221 | MEN1 | Uncertain significance | 1941830592 | RCV001347617; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575143 | 64575143 | | | 64575143 | - | | |
NM_001370259.2(MEN1):c.663G>C (p.Leu221=) | 4221 | MEN1 | Likely benign | 1466764986 | RCV001506095; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575144 | 64575144 | | | 64575144 | - | | |
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 2136143369 | RCV001896354|RCV002361181; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575145 | 64575145 | | | 64575145 | - | | |
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter) | 4221 | MEN1 | Pathogenic | 886039414 | RCV000256041|RCV000490921|RCV001224068; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575147 | 64575147 | | | 11:g.64575147C>T | ClinGen:CA10588533 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.660G>T (p.Trp220Cys) | 4221 | MEN1 | Uncertain significance | 886039414 | RCV000704895; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575147 | 64575147 | | | NC_000011.9:g.64575147C>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter) | 4221 | MEN1 | Pathogenic | 1565647197 | RCV000696600; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575148 | 64575148 | | | NC_000011.9:g.64575148C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.655-15_658del | 4221 | MEN1 | Likely pathogenic | 1592649598 | RCV000823354; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575149 | 64575167 | | | 11:g.64575149_64575167del | - | | |
NM_001370259.2(MEN1):c.657C>T (p.Ser219=) | 4221 | MEN1 | Likely benign | 2059889716 | RCV001394944|RCV003284300; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575150 | 64575150 | | | 64575150 | - | | |
NM_001370259.2(MEN1):c.655-1G>A | 4221 | MEN1 | Pathogenic | 1592649615 | RCV000819459; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575153 | 64575153 | | | 11:g.64575153C>T | - | | |
NM_001370259.2(MEN1):c.655-1G>C | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1592649615 | RCV001025404|RCV002281151|RCV001862323; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575153 | 64575153 | | | 11:g.64575153C>G | - | | |
NM_001370259.2(MEN1):c.655-2A>G | 4221 | MEN1 | Pathogenic | -1 | RCV003084888; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575154 | 64575154 | | | NC_000011.9:g.64575154T>C | - | | |
NM_001370259.2(MEN1):c.655-7_655-4dup | 4221 | MEN1 | Likely benign | 2136143779 | RCV001426737; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575155 | 64575156 | | | 64575155 | - | | |
NM_001370259.2(MEN1):c.655-4del | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 748005956 | RCV000234359|RCV000454942|RCV000566396; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575156 | 64575156 | | | NC_000011.9:g.64575156del | ClinGen:CA061415 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.655-5dup | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 772016629 | RCV000411902|RCV001706621|RCV002256225|RCV003321585; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 11 | 64575156 | 64575157 | | | NC_000011.9:g.64575163dup | ClinGen:CA6082226 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.655-6_655-4del | 4221 | MEN1 | Uncertain significance | 1555165623 | RCV000632098; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575156 | 64575158 | | | NC_000011.9:g.64575156_64575158del | ClinGen:CA658797673 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.655-5C>G | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 752563214 | RCV000227150|RCV002365218|RCV003226264; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 11 | 64575157 | 64575157 | | | NC_000011.9:g.64575157G>C | ClinGen:CA061418 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.655-5C>A | 4221 | MEN1 | Uncertain significance | 752563214 | RCV001025408|RCV001068075; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575157 | 64575157 | | | 11:g.64575157G>T | - | | |
NM_001370259.2(MEN1):c.655-5del | 4221 | MEN1 | Benign/Likely benign | 772016629 | RCV002164791|RCV003222384; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64575157 | 64575157 | | | 64575156 | - | | |
NM_001370259.2(MEN1):c.655-5C>T | 4221 | MEN1 | Likely benign | 752563214 | RCV002220890; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575157 | 64575157 | | | 64575157 | - | | |
NM_001370259.2(MEN1):c.655-6C>T | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 77461664 | RCV000679258|RCV001082522|RCV001105327|RCV001731368|RCV002255283; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575158 | 64575158 | | | 11:g.64575158G>A | ClinGen:CA009562 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.655-6C>A | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 77461664 | RCV000454964|RCV000657085|RCV000988573|RCV002257506; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575158 | 64575158 | | | 11:g.64575158G>T | ClinGen:CA061426 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.655-6C>G | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 77461664 | RCV000231039|RCV000604145|RCV001105328|RCV002256173; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575158 | 64575158 | | | NC_000011.9:g.64575158G>C | ClinGen:CA061430 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.655-7C>A | 4221 | MEN1 | Uncertain significance | 771297371 | RCV000547893; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575159 | 64575159 | | | 11:g.64575159G>T | ClinGen:CA061437 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.655-7C>G | 4221 | MEN1 | Uncertain significance | 771297371 | RCV001369936; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575159 | 64575159 | | | 64575159 | - | | |
NM_001370259.2(MEN1):c.655-7C>T | 4221 | MEN1 | Likely benign | 771297371 | RCV001439761; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575159 | 64575159 | | | 64575159 | - | | |
NM_001370259.2(MEN1):c.655-8C>T | 4221 | MEN1 | Likely benign | 2136143989 | RCV002218698; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575160 | 64575160 | | | 64575160 | - | | |
NM_001370259.2(MEN1):c.655-9C>A | 4221 | MEN1 | Uncertain significance | 2136144016 | RCV002037070; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575161 | 64575161 | | | 64575161 | - | | |
NM_001370259.2(MEN1):c.655-10C>T | 4221 | MEN1 | Likely benign | 2136144068 | RCV002165957; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575162 | 64575162 | | | 64575162 | - | | |
NM_001370259.2(MEN1):c.655-12dup | 4221 | MEN1 | Likely benign | 2136144164 | RCV002218015; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575163 | 64575164 | | | 64575163 | - | | |
NM_001370259.2(MEN1):c.655-11C>T | 4221 | MEN1 | Likely benign | 781234614 | RCV002212281; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575163 | 64575163 | | | 64575163 | - | | |
NM_001370259.2(MEN1):c.655-11C>G | 4221 | MEN1 | Likely benign | 781234614 | RCV002157457; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575163 | 64575163 | | | 64575163 | - | | |
NM_001370259.2(MEN1):c.655-12T>C | 4221 | MEN1 | Likely benign | 2136144144 | RCV002128038; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575164 | 64575164 | | | 64575164 | - | | |
NM_001370259.2(MEN1):c.655-19_655-17del | 4221 | MEN1 | Likely benign | 2136144272 | RCV002111496; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575169 | 64575171 | | | 64575168 | - | | |
NM_001370259.2(MEN1):c.655-19G>A | 4221 | MEN1 | Likely benign | -1 | RCV002586510; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575171 | 64575171 | | | NC_000011.9:g.64575171C>T | - | | |
NM_001370259.2(MEN1):c.654+18dup | 4221 | MEN1 | Benign | 112700230 | RCV002102849; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575344 | 64575345 | | | 64575344 | - | | |
NM_001370259.2(MEN1):c.654+18C>T | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 180737290 | RCV000030208|RCV000606793; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64575345 | 64575345 | | | 11:g.64575345G>A | ClinGen:CA009555 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.654+18C>G | 4221 | MEN1 | Likely benign | 180737290 | RCV002168552; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575345 | 64575345 | | | 64575345 | - | | |
NM_001370259.2(MEN1):c.654+18del | 4221 | MEN1 | Benign | 112700230 | RCV002124958; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575345 | 64575345 | | | 64575344 | - | | |
NM_001370259.2(MEN1):c.654+18C>A | 4221 | MEN1 | Likely benign | -1 | RCV002995996; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575345 | 64575345 | | | NC_000011.9:g.64575345G>T | - | | |
NM_001370259.2(MEN1):c.654+17C>G | 4221 | MEN1 | Likely benign | 764070489 | RCV002085395; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575346 | 64575346 | | | 64575346 | - | | |
NM_001370259.2(MEN1):c.654+17C>A | 4221 | MEN1 | Likely benign | -1 | RCV002670976; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575346 | 64575346 | | | NC_000011.9:g.64575346G>T | - | | |
NM_001370259.2(MEN1):c.654+16C>A | 4221 | MEN1 | Likely benign | 2136147604 | RCV002143615; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575347 | 64575347 | | | 64575347 | - | | |
NM_001370259.2(MEN1):c.654+15C>G | 4221 | MEN1 | Likely benign | 1262314762 | RCV002218109; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575348 | 64575348 | | | 64575348 | - | | |
NM_001370259.2(MEN1):c.654+14C>T | 4221 | MEN1 | Likely benign | -1 | RCV003040075; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575349 | 64575349 | | | NC_000011.9:g.64575349G>A | - | | |
NM_001370259.2(MEN1):c.654+11C>T | 4221 | MEN1 | Likely benign | 1941846380 | RCV002200254; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575352 | 64575352 | | | 64575352 | - | | |
NM_001370259.2(MEN1):c.654+10C>T | 4221 | MEN1 | Likely benign | 921850475 | RCV000461965; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575353 | 64575353 | | | NC_000011.9:g.64575353G>A | ClinGen:CA16613630 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.654+10C>A | 4221 | MEN1 | Likely benign | 921850475 | RCV001445117; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575353 | 64575353 | | | 64575353 | - | | |
NM_001370259.2(MEN1):c.654+9C>T | 4221 | MEN1 | Likely benign | 202134234 | RCV000461750; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575354 | 64575354 | | | NC_000011.9:g.64575354G>A | ClinGen:CA061381 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.654+9C>A | 4221 | MEN1 | Likely benign | 202134234 | RCV000632159; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575354 | 64575354 | | | NC_000011.9:g.64575354G>T | ClinGen:CA658797675 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.654+9C>G | 4221 | MEN1 | Likely benign | 202134234 | RCV000632169; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575354 | 64575354 | | | 11:g.64575354G>C | ClinGen:CA658797674 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.654+6G>T | 4221 | MEN1 | Uncertain significance | 1941847253 | RCV001221549; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575357 | 64575357 | | | 11:g.64575357C>A | - | | |
NM_001370259.2(MEN1):c.654+5T>C | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 757049384 | RCV001056574|RCV002365715; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575358 | 64575358 | | | 11:g.64575358A>G | - | | |
NM_001370259.2(MEN1):c.654+4T>C | 4221 | MEN1 | Uncertain significance | 1941847622 | RCV001036068; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575359 | 64575359 | | | 11:g.64575359A>G | - | | |
NM_001370259.2(MEN1):c.654+3A>G | 4221 | MEN1 | Likely pathogenic | 1064793168 | RCV001061257; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575360 | 64575360 | | | 11:g.64575360T>C | - | | |
NM_001370259.2(MEN1):c.649_654+2del | 4221 | MEN1 | Likely pathogenic | 386134258 | RCV000030207; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575361 | 64575368 | | | 11:g.64575361_64575368del | ClinGen:CA260470 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.654+1G>A | 4221 | MEN1 | Pathogenic | 794728622 | RCV000032982|RCV002362604|RCV002510773; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64575362 | 64575362 | | | 11:g.64575362C>T | OMIM:613733.0035 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.654+1G>T | 4221 | MEN1 | Pathogenic | 794728622 | RCV000182411|RCV000709159|RCV002362934; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575362 | 64575362 | | | NC_000011.9:g.64575362C>A | ClinGen:CA009560 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln) | 4221 | MEN1 | Uncertain significance | 1423517569 | RCV001025386|RCV001056016; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575364 | 64575364 | | | 11:g.64575364C>T | - | | |
NM_001370259.2(MEN1):c.653G>C (p.Arg218Pro) | 4221 | MEN1 | Uncertain significance | 1423517569 | RCV001212796; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575364 | 64575364 | | | 11:g.64575364C>G | - | | |
NM_001370259.2(MEN1):c.644_652delinsGCCCCT (p.Val215_Arg218delinsGlyProTrp) | 4221 | MEN1 | Uncertain significance | 386134257 | RCV000030206|RCV000722116; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64575365 | 64575373 | | | 11:g.64575366_64575373del | ClinGen:CA009539 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) | 4221 | MEN1 | Uncertain significance | 794728620 | RCV000410087|RCV001818447|RCV002362933; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575365 | 64575365 | | | 11:g.64575365G>A | ClinGen:CA009550 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.652C>A (p.Arg218=) | 4221 | MEN1 | Likely benign | 794728620 | RCV001448064; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575365 | 64575365 | | | 64575365 | - | | |
NM_001370259.2(MEN1):c.647C>T (p.Ala216Val) | 4221 | MEN1 | Uncertain significance | 2136148590 | RCV001993765; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575370 | 64575370 | | | 64575370 | - | | |
NM_001370259.2(MEN1):c.646G>C (p.Ala216Pro) | 4221 | MEN1 | Uncertain significance | 1592650523 | RCV000802474; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575371 | 64575371 | | | 11:g.64575371C>G | - | | |
NM_001370259.2(MEN1):c.646del (p.Ala216fs) | 4221 | MEN1 | Pathogenic | 2136148702 | RCV001894281; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575371 | 64575371 | | | 64575370 | - | | |
NM_001370259.2(MEN1):c.645G>A (p.Val215=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1347044526 | RCV001365237|RCV002255652; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575372 | 64575372 | | | 64575372 | - | | |
NM_001370259.2(MEN1):c.643G>A (p.Val215Met) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 794728621 | RCV000230442|RCV001797061; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64575374 | 64575374 | | | 11:g.64575374C>T | ClinGen:CA009535 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.642T>C (p.Gly214=) | 4221 | MEN1 | Likely benign | 931878410 | RCV001479044|RCV002363263; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575375 | 64575375 | | | 11:g.64575375A>G | - | | |
NM_001370259.2(MEN1):c.641G>C (p.Gly214Ala) | 4221 | MEN1 | Uncertain significance | 2136148915 | RCV002025366; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575376 | 64575376 | | | 64575376 | - | | |
NM_001370259.2(MEN1):c.640G>A (p.Gly214Ser) | 4221 | MEN1 | Uncertain significance | 781493730 | RCV000205360|RCV001025237|RCV003237765; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64575377 | 64575377 | | | NC_000011.9:g.64575377C>T | ClinGen:CA061345 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.640G>T (p.Gly214Cys) | 4221 | MEN1 | Uncertain significance | 781493730 | RCV001991237; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575377 | 64575377 | | | 64575377 | - | | |
NM_001370259.2(MEN1):c.639C>T (p.Ala213=) | 4221 | MEN1 | Likely benign | 746067825 | RCV000227531|RCV000562641; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575378 | 64575378 | | | NC_000011.9:g.64575378G>A | ClinGen:CA061341 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.638_639delinsAA (p.Ala213Glu) | 4221 | MEN1 | Uncertain significance | 1114167518 | RCV000491024|RCV002527050|RCV003235248; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64575378 | 64575379 | | | NC_000011.9:g.64575378_64575379delinsTT | ClinGen:CA645369568 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.639C>A (p.Ala213=) | 4221 | MEN1 | Likely benign | 746067825 | RCV001399750; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575378 | 64575378 | | | 11:g.64575378G>T | - | | |
NM_001370259.2(MEN1):c.639del (p.Gly214fs) | 4221 | MEN1 | Pathogenic | 1941850919 | RCV001056652; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575378 | 64575378 | | | 11:g.64575378_64575378del | - | | |
NM_001370259.2(MEN1):c.638C>G (p.Ala213Gly) | 4221 | MEN1 | Uncertain significance | -1 | RCV003470099; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575379 | 64575379 | | | | - | | |
NM_001370259.2(MEN1):c.637G>A (p.Ala213Thr) | 4221 | MEN1 | Uncertain significance | -1 | RCV002979145; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575380 | 64575380 | | | NC_000011.9:g.64575380C>T | - | | |
NM_001370259.2(MEN1):c.635A>G (p.Asn212Ser) | 4221 | MEN1 | Uncertain significance | 1438685841 | RCV000632102|RCV002248834|RCV002360516|RCV002510940; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64575382 | 64575382 | | | 11:g.64575382T>C | ClinGen:CA381185348 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.631_634del (p.Val211fs) | 4221 | MEN1 | Pathogenic | 1941851693 | RCV000018182; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575383 | 64575386 | | | NC_000011.9:g.64575385_64575388del | OMIM:613733.0026 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.634A>G (p.Asn212Asp) | 4221 | MEN1 | Uncertain significance | 1060499980 | RCV000472651; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575383 | 64575383 | | | NC_000011.9:g.64575383T>C | ClinGen:CA16613421 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.633del (p.Asn212fs) | 4221 | MEN1 | Pathogenic | 878855196 | RCV000232633; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575384 | 64575384 | | | NC_000011.9:g.64575384del | ClinGen:CA10582940 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.632T>G (p.Val211Gly) | 4221 | MEN1 | Uncertain significance | 1565647698 | RCV000685919; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575385 | 64575385 | | | NC_000011.9:g.64575385A>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) | 4221 | MEN1 | Pathogenic | 794728640 | RCV000018163|RCV000182437|RCV000491752; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575386 | 64575389 | | | NC_000011.9:g.64575389_64575392del | ClinGen:CA009530,OMIM:613733.0007 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.630A>C (p.Thr210=) | 4221 | MEN1 | Likely benign | 1592650685 | RCV001505443; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575387 | 64575387 | | | 11:g.64575387T>G | - | | |
NM_001370259.2(MEN1):c.629C>G (p.Thr210Arg) | 4221 | MEN1 | Uncertain significance | 756287855 | RCV000471586; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575388 | 64575388 | | | NC_000011.9:g.64575388G>C | ClinGen:CA16613473 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.629C>A (p.Thr210Lys) | 4221 | MEN1 | Uncertain significance | 756287855 | RCV001991172|RCV003170340; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575388 | 64575388 | | | 64575388 | - | | |
NM_001370259.2(MEN1):c.627G>C (p.Gln209His) | 4221 | MEN1 | Uncertain significance | 1565647751 | RCV000694820; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575390 | 64575390 | | | 11:g.64575390C>G | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.627G>T (p.Gln209His) | 4221 | MEN1 | Uncertain significance | 1565647751 | RCV001343884; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575390 | 64575390 | | | 64575390 | - | | |
NM_001370259.2(MEN1):c.627G>A (p.Gln209=) | 4221 | MEN1 | Likely benign | 1565647751 | RCV001421353; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575390 | 64575390 | | | 64575390 | - | | |
NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter) | 4221 | MEN1 | Pathogenic | 1565647767 | RCV000692015; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575392 | 64575392 | | | NC_000011.9:g.64575392G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.621G>A (p.Arg207=) | 4221 | MEN1 | Likely benign | 779966911 | RCV001487021|RCV002363025; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575396 | 64575396 | | | 11:g.64575396C>T | ClinGen:CA061329 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.619A>G (p.Arg207Gly) | 4221 | MEN1 | Uncertain significance | 1941853632 | RCV001212253|RCV002365954; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575398 | 64575398 | | | 11:g.64575398T>C | - | | |
NM_001370259.2(MEN1):c.618C>T (p.Arg206=) | 4221 | MEN1 | Uncertain significance | 1555165717 | RCV000559647; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575399 | 64575399 | | | 11:g.64575399G>A | ClinGen:CA475162852 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.617G>A (p.Arg206His) | 4221 | MEN1 | Uncertain significance | 1565647825 | RCV000697796|RCV002352168|RCV003329327; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64575400 | 64575400 | | | NC_000011.9:g.64575400C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.616C>T (p.Arg206Cys) | 4221 | MEN1 | Uncertain significance | 1392579402 | RCV001316658|RCV002357135; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575401 | 64575401 | | | 64575401 | - | | |
NM_001370259.2(MEN1):c.612G>C (p.Glu204Asp) | 4221 | MEN1 | Uncertain significance | -1 | RCV002300414; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575405 | 64575405 | | | 64575405 | - | | |
NM_001370259.2(MEN1):c.609C>T (p.Asn203=) | 4221 | MEN1 | Likely benign | 749844029 | RCV000570189|RCV000632152; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575408 | 64575408 | | | 11:g.64575408G>A | ClinGen:CA061316 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.609C>G (p.Asn203Lys) | 4221 | MEN1 | Uncertain significance | 749844029 | RCV002018265; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575408 | 64575408 | | | 64575408 | - | | |
NM_001370259.2(MEN1):c.606C>A (p.Gly202=) | 4221 | MEN1 | Likely benign | -1 | RCV002933713; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575411 | 64575411 | | | | - | | |
NM_001370259.2(MEN1):c.605G>A (p.Gly202Asp) | 4221 | MEN1 | Uncertain significance | 1941854779 | RCV001216886; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575412 | 64575412 | | | 11:g.64575412C>T | - | | |
NM_001370259.2(MEN1):c.605del (p.Gly202fs) | 4221 | MEN1 | Pathogenic | -1 | RCV003450206; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575412 | 64575412 | | | | - | | |
NM_001370259.2(MEN1):c.601A>G (p.Lys201Glu) | 4221 | MEN1 | Uncertain significance | -1 | RCV002993837; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575416 | 64575416 | | | NC_000011.9:g.64575416T>C | - | | |
NM_001370259.2(MEN1):c.598G>A (p.Gly200Ser) | 4221 | MEN1 | Uncertain significance | 1592650813 | RCV000823899; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575419 | 64575419 | | | 11:g.64575419C>T | - | | |
NM_001370259.2(MEN1):c.597C>T (p.His199=) | 4221 | MEN1 | Benign/Likely benign | 150512958 | RCV000119192|RCV000249354|RCV000491834|RCV001650974; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64575420 | 64575420 | | | 11:g.64575420G>A | ClinGen:CA009524 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.597C>A (p.His199Gln) | 4221 | MEN1 | Uncertain significance | 150512958 | RCV000547248|RCV002358449; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575420 | 64575420 | | | 11:g.64575420G>T | ClinGen:CA381185509 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter) | 4221 | MEN1 | Pathogenic | 104894257 | RCV000632134|RCV003317132; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64575423 | 64575423 | | | NC_000011.9:g.64575423C>T | ClinGen:CA009518 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter) | 4221 | MEN1 | Pathogenic | 104894258 | RCV000018162; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575424 | 64575424 | | | 11:g.64575424C>T | OMIM:613733.0006,ClinGen:CA009514 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.584_593del (p.Glu195fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002736767; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575424 | 64575433 | | | NC_000011.9:g.64575427_64575436del | - | | |
NM_001370259.2(MEN1):c.591C>G (p.Thr197=) | 4221 | MEN1 | Benign/Likely benign | 527294715 | RCV000123387|RCV002354309; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575426 | 64575426 | | | NC_000011.9:g.64575426G>C | ClinGen:CA009507 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.591C>T (p.Thr197=) | 4221 | MEN1 | Likely benign | 527294715 | RCV002173888|RCV002352927; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575426 | 64575426 | | | 64575426 | - | | |
NM_001370259.2(MEN1):c.590C>T (p.Thr197Ile) | 4221 | MEN1 | Uncertain significance | 1592650893 | RCV000794077|RCV003166114; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575427 | 64575427 | | | 11:g.64575427G>A | - | | |
NM_001370259.2(MEN1):c.588C>T (p.Val196=) | 4221 | MEN1 | Likely benign | 1592650906 | RCV001431451; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575429 | 64575429 | | | 11:g.64575429G>A | - | | |
NM_001370259.2(MEN1):c.584_586del (p.Glu195del) | 4221 | MEN1 | Uncertain significance | 2136151782 | RCV001533150; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575431 | 64575433 | | | 64575430 | - | | |
NM_001370259.2(MEN1):c.586G>A (p.Val196Ile) | 4221 | MEN1 | Uncertain significance | 2136151708 | RCV002011495; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575431 | 64575431 | | | 64575431 | - | | |
NM_001370259.2(MEN1):c.585G>A (p.Glu195=) | 4221 | MEN1 | Likely benign | 864622177 | RCV000204677; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575432 | 64575432 | | | 11:g.64575432C>T | ClinGen:CA348878 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.582T>G (p.Ala194=) | 4221 | MEN1 | Likely benign | 1592650942 | RCV001403320; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575435 | 64575435 | | | 11:g.64575435A>C | - | | |
NM_001370259.2(MEN1):c.582T>A (p.Ala194=) | 4221 | MEN1 | Likely benign | 1592650942 | RCV001462864; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575435 | 64575435 | | | 64575435 | - | | |
NM_001370259.2(MEN1):c.581C>G (p.Ala194Gly) | 4221 | MEN1 | Uncertain significance | 2136152165 | RCV002042560; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575436 | 64575436 | | | 64575436 | - | | |
NM_001370259.2(MEN1):c.579A>T (p.Thr193=) | 4221 | MEN1 | Likely benign | -1 | RCV002359802|RCV003096876; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575438 | 64575438 | | | | - | | |
NM_001370259.2(MEN1):c.578C>G (p.Thr193Arg) | 4221 | MEN1 | Uncertain significance | 1592650971 | RCV000802976; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575439 | 64575439 | | | 11:g.64575439G>C | - | | |
NM_001370259.2(MEN1):c.578C>T (p.Thr193Ile) | 4221 | MEN1 | Uncertain significance | 1592650971 | RCV001340366; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575439 | 64575439 | | | 64575439 | - | | |
NM_001370259.2(MEN1):c.578C>A (p.Thr193Lys) | 4221 | MEN1 | Uncertain significance | 1592650971 | RCV001959432; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575439 | 64575439 | | | 64575439 | - | | |
NM_001370259.2(MEN1):c.577A>G (p.Thr193Ala) | 4221 | MEN1 | Uncertain significance | -1 | RCV003470092; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575440 | 64575440 | | | | - | | |
NM_001370259.2(MEN1):c.574C>T (p.Gln192Ter) | 4221 | MEN1 | Pathogenic | -1 | RCV003058326; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575443 | 64575443 | | | NC_000011.9:g.64575443G>A | - | | |
NM_001370259.2(MEN1):c.573G>T (p.Glu191Asp) | 4221 | MEN1 | Uncertain significance | 1592651018 | RCV001024469|RCV001862290; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575444 | 64575444 | | | 11:g.64575444C>A | - | | |
NM_001370259.2(MEN1):c.573G>A (p.Glu191=) | 4221 | MEN1 | Likely benign | 1592651018 | RCV002110099; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575444 | 64575444 | | | 64575444 | - | | |
NM_001370259.2(MEN1):c.570G>A (p.Gly190=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 547249181 | RCV000473714|RCV000564641|RCV001105329|RCV001821300; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:CN169374 | 11 | 64575447 | 64575447 | | | NC_000011.9:g.64575447C>T | ClinGen:CA061297 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.569G>A (p.Gly190Glu) | 4221 | MEN1 | Uncertain significance | 878855195 | RCV000229709; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575448 | 64575448 | | | NC_000011.9:g.64575448C>T | ClinGen:CA10582941 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg) | 4221 | MEN1 | Uncertain significance | 1555165742 | RCV000632127|RCV001024412; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575449 | 64575449 | | | NC_000011.9:g.64575449C>T | ClinGen:CA381185697 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.567T>A (p.Asn189Lys) | 4221 | MEN1 | Uncertain significance | 1212919060 | RCV001315304; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575450 | 64575450 | | | 64575450 | - | | |
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 587780844 | RCV000123386|RCV001024385|RCV003153410; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64575451 | 64575451 | | | NC_000011.9:g.64575451T>C | ClinGen:CA009502 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs) | 4221 | MEN1 | Pathogenic | 1555165756 | RCV000529950|RCV002350189; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575453 | 64575454 | | | 11:g.64575453_64575454del | ClinGen:CA658658066 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 199706698 | RCV000148613|RCV000200394|RCV000455592|RCV000708708; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575454 | 64575454 | | | 11:g.64575454G>A | ClinGen:CA009496 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.562C>T (p.Pro188Ser) | 4221 | MEN1 | Uncertain significance | 1209606579 | RCV002036732|RCV002346333; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575455 | 64575455 | | | 64575455 | - | | |
NM_001370259.2(MEN1):c.555G>T (p.Val185=) | 4221 | MEN1 | Likely benign | 1178007625 | RCV002087434; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575462 | 64575462 | | | 64575462 | - | | |
NM_001370259.2(MEN1):c.554T>C (p.Val185Ala) | 4221 | MEN1 | Uncertain significance | 764847812 | RCV000558442|RCV001024261; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575463 | 64575463 | | | 11:g.64575463A>G | ClinGen:CA061289 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.553G>C (p.Val185Leu) | 4221 | MEN1 | Uncertain significance | 1265797059 | RCV001321300; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575464 | 64575464 | | | 64575464 | - | | |
NM_001370259.2(MEN1):c.551T>A (p.Val184Glu) | 4221 | MEN1 | Pathogenic | 104894262 | RCV000018177; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575466 | 64575466 | | | 11:g.64575466A>T | ClinGen:CA009488,UniProtKB:O00255#VAR_005445,OMIM:613733.0021 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.549G>C (p.Trp183Cys) | 4221 | MEN1 | Pathogenic | 2136153753 | RCV002037784; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575468 | 64575468 | | | 64575468 | - | | |
NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter) | 4221 | MEN1 | Pathogenic | -1 | RCV003062405; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575468 | 64575468 | | | NC_000011.9:g.64575468C>T | - | | |
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) | 4221 | MEN1 | Pathogenic | 794728650 | RCV000659844|RCV003165391; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575469 | 64575469 | | | NC_000011.9:g.64575469C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.544G>C (p.Ala182Pro) | 4221 | MEN1 | Uncertain significance | -1 | RCV002715109; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575473 | 64575473 | | | NC_000011.9:g.64575473C>G | - | | |
NM_001370259.2(MEN1):c.542A>G (p.His181Arg) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1941861451 | RCV001574143|RCV001069023|RCV002348477; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575475 | 64575475 | | | 11:g.64575475T>C | - | | |
NM_001370259.2(MEN1):c.539A>T (p.Asp180Val) | 4221 | MEN1 | Uncertain significance | 1064794683 | RCV000487365|RCV001049493; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575478 | 64575478 | | | 11:g.64575478T>A | ClinGen:CA16619364 | CN169374 not specified; | |
NM_001370259.2(MEN1):c.537_538delinsTT (p.Glu179_Asp180delinsAspTyr) | 4221 | MEN1 | Uncertain significance | 1555165809 | RCV000545198; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575479 | 64575480 | | | NC_000011.9:g.64575479_64575480delinsAA | ClinGen:CA658658067 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.538G>T (p.Asp180Tyr) | 4221 | MEN1 | Uncertain significance | 2136154322 | RCV001367443; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575479 | 64575479 | | | 64575479 | - | | |
NM_001370259.2(MEN1):c.537G>C (p.Glu179Asp) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1555165811 | RCV000521106|RCV001228587; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575480 | 64575480 | | | 11:g.64575480C>G | ClinGen:CA381185889 | CN169374 not specified; | |
NM_001370259.2(MEN1):c.534dup (p.Glu179Ter) | 4221 | MEN1 | Pathogenic | 2136154587 | RCV001979712; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575482 | 64575483 | | | 64575482 | - | | |
NM_001370259.2(MEN1):c.531G>A (p.Leu177=) | 4221 | MEN1 | Likely benign | 146568011 | RCV000226931|RCV000254470|RCV000491307; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575486 | 64575486 | | | NC_000011.9:g.64575486C>T | ClinGen:CA061284 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro) | 4221 | MEN1 | Uncertain significance | 2136154828 | RCV001368589; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575487 | 64575487 | | | 64575487 | - | | |
NM_001370259.2(MEN1):c.529C>G (p.Leu177Val) | 4221 | MEN1 | Uncertain significance | 865919253 | RCV000813107; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575488 | 64575488 | | | 11:g.64575488G>C | - | | |
NM_001370259.2(MEN1):c.528C>A (p.Ala176=) | 4221 | MEN1 | Likely benign | 1311592330 | RCV002194362; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575489 | 64575489 | | | 64575489 | - | | |
NM_001370259.2(MEN1):c.528C>G (p.Ala176=) | 4221 | MEN1 | Likely benign | 1311592330 | RCV002144736|RCV002346457; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575489 | 64575489 | | | 64575489 | - | | |
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 376872829 | RCV000491572|RCV000505771|RCV000551917; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575491 | 64575491 | | | NC_000011.9:g.64575491C>G | ClinGen:CA009468 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 376872829 | RCV000573513|RCV000632090|RCV002253513; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64575491 | 64575491 | | | 11:g.64575491C>A | ClinGen:CA061279 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.526G>A (p.Ala176Thr) | 4221 | MEN1 | Uncertain significance | 376872829 | RCV001023830|RCV001060544|RCV003319433; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64575491 | 64575491 | | | 11:g.64575491C>T | - | | |
NM_001370259.2(MEN1):c.525_526insTT (p.Ala176fs) | 4221 | MEN1 | Pathogenic | 1941864588 | RCV001223479; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575491 | 64575492 | | | 11:g.64575491_64575492insAA | - | | |
NM_001370259.2(MEN1):c.525C>T (p.Leu175=) | 4221 | MEN1 | Likely benign | 200155578 | RCV000475141|RCV000571355|RCV003311820; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64575492 | 64575492 | | | NC_000011.9:g.64575492G>A | ClinGen:CA061272 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.516T>C (p.Asp172=) | 4221 | MEN1 | Likely benign | 912509147 | RCV000573168|RCV000894832; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575501 | 64575501 | | | 11:g.64575501A>G | ClinGen:CA223915742 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.514G>C (p.Asp172His) | 4221 | MEN1 | Uncertain significance | 1114167494 | RCV001964122; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575503 | 64575503 | | | 64575503 | - | | |
NM_001370259.2(MEN1):c.513G>C (p.Arg171=) | 4221 | MEN1 | Likely benign | 560870111 | RCV000204302|RCV001023601; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575504 | 64575504 | | | 11:g.64575504C>G | ClinGen:CA061255 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 607969 | RCV000034787|RCV000082337|RCV000119143|RCV000202713|RCV000210794|RCV001106456; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype | 11 | 64575505 | 64575505 | | | 11:g.64575505C>T | ClinGen:CA009454 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.512G>C (p.Arg171Pro) | 4221 | MEN1 | Uncertain significance | 607969 | RCV001023592|RCV001318116; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575505 | 64575505 | | | 11:g.64575505C>G | - | | |
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 143329068 | RCV000148612|RCV000410523|RCV000455664|RCV000569499|RCV000766972|RCV003153432; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MOND | 11 | 64575506 | 64575506 | | | 11:g.64575506G>A | ClinGen:CA009448 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.511C>G (p.Arg171Gly) | 4221 | MEN1 | Uncertain significance | 143329068 | RCV002041674|RCV003164019; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575506 | 64575506 | | | 64575506 | - | | |
NM_001370259.2(MEN1):c.509T>C (p.Leu170Pro) | 4221 | MEN1 | Uncertain significance | 1941866849 | RCV001337463|RCV003294322; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575508 | 64575508 | | | 64575508 | - | | |
NM_001370259.2(MEN1):c.506_507dup (p.Leu170fs) | 4221 | MEN1 | Pathogenic | 2136156268 | RCV001384988; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575509 | 64575510 | | | 64575509 | - | | |
NM_001370259.2(MEN1):c.507T>G (p.Gly169=) | 4221 | MEN1 | Likely benign | -1 | RCV002834232; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575510 | 64575510 | | | | - | | |
NM_001370259.2(MEN1):c.505G>A (p.Gly169Ser) | 4221 | MEN1 | Uncertain significance | 71526465 | RCV001211689; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575512 | 64575512 | | | 11:g.64575512C>T | - | | |
NM_001370259.2(MEN1):c.505G>C (p.Gly169Arg) | 4221 | MEN1 | Uncertain significance | 71526465 | RCV001318355; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575512 | 64575512 | | | 64575512 | - | | |
NM_001370259.2(MEN1):c.504G>A (p.Leu168=) | 4221 | MEN1 | Likely benign | 1941867763 | RCV001444252|RCV003399233; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64575513 | 64575513 | | | 64575513 | - | | |
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 386134256 | RCV000030205; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575514 | 64575514 | | | 11:g.64575514A>G | ClinGen:CA009447,UniProtKB:O00255#VAR_039598 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.502C>G (p.Leu168Val) | 4221 | MEN1 | Uncertain significance | 1555165846 | RCV000632089; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575515 | 64575515 | | | 11:g.64575515G>C | ClinGen:CA381186060 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.502C>T (p.Leu168=) | 4221 | MEN1 | Likely benign | 1555165846 | RCV001479658|RCV003380795; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575515 | 64575515 | | | 11:g.64575515G>A | - | | |
NM_001370259.2(MEN1):c.499G>A (p.Ala167Thr) | 4221 | MEN1 | Uncertain significance | -1 | RCV003043807; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575518 | 64575518 | | | NC_000011.9:g.64575518C>T | - | | |
NM_001370259.2(MEN1):c.498G>C (p.Gln166His) | 4221 | MEN1 | Uncertain significance | -1 | RCV003110752; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575519 | 64575519 | | | NC_000011.9:g.64575519C>G | - | | |
NM_001370259.2(MEN1):c.497A>C (p.Gln166Pro) | 4221 | MEN1 | Uncertain significance | -1 | RCV003058092; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575520 | 64575520 | | | NC_000011.9:g.64575520T>G | - | | |
NM_001370259.2(MEN1):c.496C>A (p.Gln166Lys) | 4221 | MEN1 | Uncertain significance | 1565648511 | RCV002028282; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575521 | 64575521 | | | 64575521 | - | | |
NM_001370259.2(MEN1):c.496C>G (p.Gln166Glu) | 4221 | MEN1 | Uncertain significance | 1565648511 | RCV002008712; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575521 | 64575521 | | | 64575521 | - | | |
NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter) | 4221 | MEN1 | Pathogenic | 1592651767 | RCV000793204; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575522 | 64575522 | | | 11:g.64575522G>T | - | | |
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr) | 4221 | MEN1 | Likely pathogenic | 1057521111 | RCV000442726|RCV000632126; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575523 | 64575523 | | | 11:g.64575523C>T | ClinGen:CA16605984 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) | 4221 | MEN1 | Benign/Likely benign | 146759807 | RCV000030204|RCV000610718|RCV001023275; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575525 | 64575525 | | | 11:g.64575525G>A | ClinGen:CA009441 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val) | 4221 | MEN1 | Likely pathogenic | 1565648547 | RCV000702798; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575526 | 64575526 | | | NC_000011.9:g.64575526G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp) | 4221 | MEN1 | Likely pathogenic | 1565648547 | RCV001220086; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575526 | 64575526 | | | 11:g.64575526G>T | - | | |
NM_001370259.2(MEN1):c.490G>T (p.Ala164Ser) | 4221 | MEN1 | Uncertain significance | 1311408888 | RCV000807278; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575527 | 64575527 | | | 11:g.64575527C>A | - | | |
NM_001370259.2(MEN1):c.489G>A (p.Gly163=) | 4221 | MEN1 | Likely benign | 2136157212 | RCV002150012; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575528 | 64575528 | | | 64575528 | - | | |
NM_001370259.2(MEN1):c.485T>C (p.Val162Ala) | 4221 | MEN1 | Uncertain significance | 748648909 | RCV000632131|RCV002334065; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575532 | 64575532 | | | NC_000011.9:g.64575532A>G | ClinGen:CA061208 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.484G>A (p.Val162Ile) | 4221 | MEN1 | Uncertain significance | 2136157511 | RCV001913494; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575533 | 64575533 | | | 64575533 | - | | |
NM_001370259.2(MEN1):c.483G>A (p.Val161=) | 4221 | MEN1 | Likely benign | -1 | RCV002876382; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575534 | 64575534 | | | | - | | |
NM_001370259.2(MEN1):c.481G>A (p.Val161Met) | 4221 | MEN1 | Uncertain significance | 1268563474 | RCV001370887|RCV002341802; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575536 | 64575536 | | | 64575536 | - | | |
NM_001370259.2(MEN1):c.480T>C (p.Ala160=) | 4221 | MEN1 | Likely benign | 2136157794 | RCV001486862|RCV002342098; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575537 | 64575537 | | | 64575537 | - | | |
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro) | 4221 | MEN1 | Pathogenic | 1565648656 | RCV000702232|RCV001269817|RCV002334355; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575539 | 64575539 | | | NC_000011.9:g.64575539C>G | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.477T>G (p.Phe159Leu) | 4221 | MEN1 | Uncertain significance | 1941871397 | RCV001343081|RCV002341705; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575540 | 64575540 | | | 64575540 | - | | |
NM_001370259.2(MEN1):c.474C>T (p.Ala158=) | 4221 | MEN1 | Likely benign | 772526802 | RCV000632164|RCV002331118; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575543 | 64575543 | | | NC_000011.9:g.64575543G>A | ClinGen:CA061203 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.474del (p.Phe159fs) | 4221 | MEN1 | Pathogenic | 2136158237 | RCV001385039; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575543 | 64575543 | | | 64575542 | - | | |
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 794728617 | RCV000474814|RCV003380506; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575544 | 64575544 | | | NC_000011.9:g.64575544G>T | ClinGen:CA009435 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.473C>T (p.Ala158Val) | 4221 | MEN1 | Uncertain significance | 794728617 | RCV000697548|RCV002334332; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575544 | 64575544 | | | NC_000011.9:g.64575544G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.472G>A (p.Ala158Thr) | 4221 | MEN1 | Uncertain significance | 1421808873 | RCV001361174|RCV003298569; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575545 | 64575545 | | | 64575545 | - | | |
NM_001370259.2(MEN1):c.471G>A (p.Val157=) | 4221 | MEN1 | Likely benign | 878855194 | RCV000233035|RCV000572540; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575546 | 64575546 | | | NC_000011.9:g.64575546C>T | ClinGen:CA10582942 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.469G>A (p.Val157Met) | 4221 | MEN1 | Uncertain significance | 1555165872 | RCV000632108; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575548 | 64575548 | | | NC_000011.9:g.64575548C>T | ClinGen:CA381186239 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 794728648 | RCV000425558|RCV000466874|RCV000491482; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575550 | 64575550 | | | 11:g.64575550C>T | ClinGen:CA16605985 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs) | 4221 | MEN1 | Likely pathogenic | 386134255 | RCV000030203; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575551 | 64575552 | | | 11:g.64575551_64575552insAATT | ClinGen:CA009428 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1085307471 | RCV000489416|RCV003155212; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575551 | 64575551 | | | 11:g.64575551C>G | ClinGen:CA381186242 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1085307471 | RCV000702784|RCV001269816|RCV002332492; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575551 | 64575551 | | | NC_000011.9:g.64575551C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1085307471 | RCV001269563|RCV001880194|RCV002327616; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575551 | 64575551 | | | 11:g.64575551C>A | - | | |
NM_001370259.2(MEN1):c.465C>T (p.Ser155=) | 4221 | MEN1 | Likely benign | 936786553 | RCV000539439|RCV001022861; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64575552 | 64575552 | | | 11:g.64575552G>A | ClinGen:CA223915904 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.464C>T (p.Ser155Phe) | 4221 | MEN1 | Uncertain significance | -1 | RCV003062406; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575553 | 64575553 | | | NC_000011.9:g.64575553G>A | - | | |
NM_001370259.2(MEN1):c.461G>T (p.Ser154Ile) | 4221 | MEN1 | Uncertain significance | 1941873896 | RCV001320603; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575556 | 64575556 | | | 64575556 | - | | |
NM_001370259.2(MEN1):c.459C>T (p.Asp153=) | 4221 | MEN1 | Likely benign | -1 | RCV002815574; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575558 | 64575558 | | | | - | | |
NM_001370259.2(MEN1):c.458A>T (p.Asp153Val) | 4221 | MEN1 | Pathogenic | 1565648789 | RCV000703817; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575559 | 64575559 | | | NC_000011.9:g.64575559T>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala) | 4221 | MEN1 | Likely pathogenic | 1565648789 | RCV001973475; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575559 | 64575559 | | | 64575559 | - | | |
NM_001370259.2(MEN1):c.452A>G (p.Lys151Arg) | 4221 | MEN1 | Uncertain significance | 2136159495 | RCV001364235; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575565 | 64575565 | | | 64575565 | - | | |
NM_001370259.2(MEN1):c.451A>G (p.Lys151Glu) | 4221 | MEN1 | Uncertain significance | 2136159555 | RCV002005494; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575566 | 64575566 | | | 64575566 | - | | |
NM_001370259.2(MEN1):c.447C>T (p.Gly149=) | 4221 | MEN1 | Likely benign | -1 | RCV002863723; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575570 | 64575570 | | | | - | | |
NM_001370259.2(MEN1):c.446G>T (p.Gly149Val) | 4221 | MEN1 | Uncertain significance | 1444210255 | RCV001365861; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575571 | 64575571 | | | 64575571 | - | | |
NM_001370259.2(MEN1):c.446-1G>A | 4221 | MEN1 | Pathogenic | 1064793672 | RCV000487061|RCV001022519|RCV001851155; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575572 | 64575572 | | | 11:g.64575572C>T | ClinGen:CA16619366 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.446-1G>C | 4221 | MEN1 | Pathogenic | 1064793672 | RCV000820156; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575572 | 64575572 | | | 11:g.64575572C>G | - | | |
NM_001370259.2(MEN1):c.446-2A>C | 4221 | MEN1 | Pathogenic | 886042035 | RCV000406326|RCV003233029; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575573 | 64575573 | | | 11:g.64575573T>G | ClinGen:CA10603221 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.446-2A>G | 4221 | MEN1 | Pathogenic | 886042035 | RCV000491191|RCV000696685|RCV002475967; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64575573 | 64575573 | | | NC_000011.9:g.64575573T>C | ClinGen:CA381186358 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.446-3C>A | 4221 | MEN1 | Uncertain significance | 377461506 | RCV000490866|RCV000531853; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575574 | 64575574 | | | 11:g.64575574G>T | ClinGen:CA061191 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.446-3C>T | 4221 | MEN1 | Uncertain significance | 377461506 | RCV001338619; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575574 | 64575574 | | | 64575574 | - | | |
NM_001370259.2(MEN1):c.446-6C>A | 4221 | MEN1 | Uncertain significance | 1941875791 | RCV001054998; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575577 | 64575577 | | | 11:g.64575577G>T | - | | |
NM_001370259.2(MEN1):c.446-7T>C | 4221 | MEN1 | Likely benign | 2136160148 | RCV002158677; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575578 | 64575578 | | | 64575578 | - | | |
NM_001370259.2(MEN1):c.446-9C>A | 4221 | MEN1 | Likely benign | 1371109251 | RCV000632170; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575580 | 64575580 | | | NC_000011.9:g.64575580G>T | ClinGen:CA658797661 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.446-9C>G | 4221 | MEN1 | Likely benign | 1371109251 | RCV001466562; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575580 | 64575580 | | | 64575580 | - | | |
NM_001370259.2(MEN1):c.446-10C>T | 4221 | MEN1 | Likely benign | 1442401628 | RCV001426994; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575581 | 64575581 | | | 11:g.64575581G>A | - | | |
NM_001370259.2(MEN1):c.446-10C>A | 4221 | MEN1 | Likely benign | 1442401628 | RCV002134478; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575581 | 64575581 | | | 64575581 | - | | |
NM_001370259.2(MEN1):c.446-11C>G | 4221 | MEN1 | Likely benign | 1273035105 | RCV002112622; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575582 | 64575582 | | | 64575582 | - | | |
NM_001370259.2(MEN1):c.446-12C>T | 4221 | MEN1 | Likely benign | 369411199 | RCV002081844; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575583 | 64575583 | | | 64575583 | - | | |
NM_001370259.2(MEN1):c.446-17A>G | 4221 | MEN1 | Likely benign | -1 | RCV003030151; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575588 | 64575588 | | | NC_000011.9:g.64575588T>C | - | | |
NM_001370259.2(MEN1):c.446-18T>C | 4221 | MEN1 | Likely benign | 2136160575 | RCV002099695; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64575589 | 64575589 | | | 64575589 | - | | |
NC_000011.10:g.(?_64809655)_(64810716_?)del | 4221 | MEN1 | Pathogenic | -1 | RCV001033796; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577127 | 64578188 | | | -1 | - | | |
NC_000011.10:g.(?_64809655)_(64810716_?)dup | 4221 | MEN1 | Uncertain significance | -1 | RCV001032045; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577127 | 64578188 | | | -1 | - | | |
NM_001370259.2(MEN1):c.445+10C>T | 4221 | MEN1 | Likely benign | 754044830 | RCV001411450; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577127 | 64577127 | | | 64577127 | - | | |
NM_001370259.2(MEN1):c.445+9C>G | 4221 | MEN1 | Likely benign | 2136177395 | RCV002175861; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577128 | 64577128 | | | 64577128 | - | | |
NM_001370259.2(MEN1):c.445+7G>T | 4221 | MEN1 | Likely benign | 2136177428 | RCV001487264; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577130 | 64577130 | | | 64577130 | - | | |
NC_000011.10:g.(?_64809659)_(64810115_?)del | 4221 | MEN1 | Pathogenic | -1 | RCV000632178; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577131 | 64577587 | | | | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.445+5G>A | 4221 | MEN1 | Uncertain significance | 1941974766 | RCV001233955; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577132 | 64577132 | | | 11:g.64577132C>T | - | | |
NM_001370259.2(MEN1):c.445+4G>A | 4221 | MEN1 | Uncertain significance | 1941974933 | RCV001043217; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577133 | 64577133 | | | 11:g.64577133C>T | - | | |
NM_001370259.2(MEN1):c.445+3T>C | 4221 | MEN1 | Uncertain significance | 2136177528 | RCV001980993; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577134 | 64577134 | | | 64577134 | - | | |
NM_001370259.2(MEN1):c.445+1G>T | 4221 | MEN1 | Likely pathogenic | -1 | RCV002806707; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577136 | 64577136 | | | NC_000011.9:g.64577136C>A | - | | |
NM_001370259.2(MEN1):c.443C>T (p.Thr148Ile) | 4221 | MEN1 | Uncertain significance | -1 | RCV003288354|RCV003459820; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577139 | 64577139 | | | | - | | |
NM_001370259.2(MEN1):c.442A>G (p.Thr148Ala) | 4221 | MEN1 | Uncertain significance | 1114167537 | RCV000492024|RCV001856929; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577140 | 64577140 | | | NC_000011.9:g.64577140T>C | ClinGen:CA381186661 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.442del (p.Thr148fs) | 4221 | MEN1 | Pathogenic | 1941975256 | RCV001240328|RCV002327581; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577140 | 64577140 | | | 11:g.64577140_64577140del | - | | |
NM_001370259.2(MEN1):c.441C>T (p.Ile147=) | 4221 | MEN1 | Likely benign | 878855193 | RCV000230248|RCV002327146; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577141 | 64577141 | | | 11:g.64577141G>A | ClinGen:CA10582943 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.435C>T (p.Ser145=) | 4221 | MEN1 | Benign | 61736636 | RCV000082336|RCV000378351|RCV000491558|RCV000712292|RCV000999732; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577147 | 64577147 | | | 11:g.64577147G>A | ClinGen:CA009422 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.434G>C (p.Ser145Thr) | 4221 | MEN1 | Uncertain significance | -1 | RCV002833155; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577148 | 64577148 | | | NC_000011.9:g.64577148C>G | - | | |
NM_001370259.2(MEN1):c.432C>A (p.Phe144Leu) | 4221 | MEN1 | Uncertain significance | 2136177828 | RCV002032936; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577150 | 64577150 | | | 64577150 | - | | |
NM_001370259.2(MEN1):c.432C>G (p.Phe144Leu) | 4221 | MEN1 | Uncertain significance | -1 | RCV003470097; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577150 | 64577150 | | | | - | | |
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1114167543 | RCV000491902|RCV001000177; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577152 | 64577152 | | | 11:g.64577152A>C | ClinGen:CA381186717 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.428T>C (p.Leu143Pro) | 4221 | MEN1 | Uncertain significance | 2136178143 | RCV001969885; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577154 | 64577154 | | | 64577154 | - | | |
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg) | 4221 | MEN1 | Likely pathogenic | -1 | RCV003233051; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577154 | 64577154 | | | | - | | |
NM_001370259.2(MEN1):c.427C>G (p.Leu143Val) | 4221 | MEN1 | Uncertain significance | -1 | RCV003121392; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577155 | 64577155 | | | NC_000011.9:g.64577155G>C | - | | |
NM_001370259.2(MEN1):c.426C>T (p.Ser142=) | 4221 | MEN1 | Likely benign | 753252650 | RCV000458015|RCV002329087; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577156 | 64577156 | | | NC_000011.9:g.64577156G>A | ClinGen:CA061134 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.425C>T (p.Ser142Phe) | 4221 | MEN1 | Uncertain significance | 1941976986 | RCV001322404; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577157 | 64577157 | | | 64577157 | - | | |
NM_001370259.2(MEN1):c.425C>A (p.Ser142Tyr) | 4221 | MEN1 | Uncertain significance | 1941976986 | RCV001338745|RCV002329309; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577157 | 64577157 | | | 64577157 | - | | |
NM_001370259.2(MEN1):c.425C>G (p.Ser142Cys) | 4221 | MEN1 | Uncertain significance | 1941976986 | RCV001373824; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577157 | 64577157 | | | 64577157 | - | | |
NM_001370259.2(MEN1):c.422A>G (p.Gln141Arg) | 4221 | MEN1 | Uncertain significance | 758846538 | RCV001323222; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577160 | 64577160 | | | 64577160 | - | | |
NM_001370259.2(MEN1):c.421C>T (p.Gln141Ter) | 4221 | MEN1 | Pathogenic | 886039553 | RCV000255977|RCV000632106; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577161 | 64577161 | | | 11:g.64577161G>A | ClinGen:CA10588534 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.420C>T (p.Ile140=) | 4221 | MEN1 | Likely benign | -1 | RCV003086842; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577162 | 64577162 | | | | - | | |
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe) | 4221 | MEN1 | Uncertain significance | 376510601 | RCV000632107|RCV002331117; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577164 | 64577164 | | | 11:g.64577164T>A | ClinGen:CA381186778 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.418A>G (p.Ile140Val) | 4221 | MEN1 | Uncertain significance | -1 | RCV002834956; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577164 | 64577164 | | | NC_000011.9:g.64577164T>C | - | | |
NM_001370259.2(MEN1):c.417C>G (p.His139Gln) | 4221 | MEN1 | Likely pathogenic | 386134254 | RCV000030202; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577165 | 64577165 | | | 11:g.64577165G>C | ClinGen:CA009417 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.417C>T (p.His139=) | 4221 | MEN1 | Likely benign | -1 | RCV003069294; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577165 | 64577165 | | | | - | | |
NM_001370259.2(MEN1):c.416A>C (p.His139Pro) | 4221 | MEN1 | Likely pathogenic | -1 | RCV003062407; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577166 | 64577166 | | | NC_000011.9:g.64577166T>G | - | | |
NM_001370259.2(MEN1):c.416del (p.His139fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002828881; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577166 | 64577166 | | | NC_000011.9:g.64577166del | - | | |
NM_001370259.2(MEN1):c.415C>G (p.His139Asp) | 4221 | MEN1 | Pathogenic | 104894263 | RCV000018179|RCV000491226; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577167 | 64577167 | | | 11:g.64577167G>C | ClinGen:CA009410,UniProtKB:O00255#VAR_005432,OMIM:613733.0023 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.406_415delinsTCCCT (p.Asp136fs) | 4221 | MEN1 | Pathogenic | 1592657785 | RCV000822487; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577167 | 64577176 | | | 11:g.64577168_64577176del | - | | |
NM_001370259.2(MEN1):c.415C>T (p.His139Tyr) | 4221 | MEN1 | Pathogenic | 104894263 | RCV001224950; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577167 | 64577167 | | | 11:g.64577167G>A | - | | |
NM_001370259.2(MEN1):c.411G>C (p.Arg137=) | 4221 | MEN1 | Likely benign | 371437505 | RCV001414060|RCV002320115; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577171 | 64577171 | | | 11:g.64577171C>G | - | | |
NM_001370259.2(MEN1):c.411G>T (p.Arg137=) | 4221 | MEN1 | Likely benign | 371437505 | RCV001410663; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577171 | 64577171 | | | 64577171 | - | | |
NM_001370259.2(MEN1):c.409C>T (p.Arg137Trp) | 4221 | MEN1 | Uncertain significance | 1208267598 | RCV000709160; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577173 | 64577173 | | | 11:g.64577173G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.409C>A (p.Arg137=) | 4221 | MEN1 | Likely benign | 1208267598 | RCV001216091|RCV002322049; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577173 | 64577173 | | | 11:g.64577173G>T | - | | |
NM_001370259.2(MEN1):c.392_407dup (p.Asp136fs) | 4221 | MEN1 | Pathogenic | -1 | RCV003013777; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577174 | 64577175 | | | NC_000011.9:g.64577175_64577190dup | - | | |
NM_001370259.2(MEN1):c.406G>C (p.Asp136His) | 4221 | MEN1 | Uncertain significance | 1941979334 | RCV001327184|RCV003405552; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652| | 11 | 64577176 | 64577176 | | | 64577176 | - | | |
NM_001370259.2(MEN1):c.403A>C (p.Lys135Gln) | 4221 | MEN1 | Uncertain significance | 121913034 | RCV000226206; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577179 | 64577179 | | | NC_000011.9:g.64577179T>G | ClinGen:CA10582944 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.402del (p.Phe134fs) | 4221 | MEN1 | Pathogenic | 397515385 | RCV000018161|RCV000182436|RCV000491332; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577180 | 64577180 | | | 11:g.64577180_64577180del | ClinGen:CA009401,OMIM:613733.0005 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.399C>T (p.Tyr133=) | 4221 | MEN1 | Likely benign | 1592657892 | RCV001021611|RCV001442297; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577183 | 64577183 | | | 11:g.64577183G>A | - | | |
NM_001370259.2(MEN1):c.398A>G (p.Tyr133Cys) | 4221 | MEN1 | Uncertain significance | 1555166357 | RCV000555824; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577184 | 64577184 | | | 11:g.64577184T>C | ClinGen:CA381187243 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.396C>T (p.Ser132=) | 4221 | MEN1 | Likely benign | 896947172 | RCV001021551|RCV001465314; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577186 | 64577186 | | | 11:g.64577186G>A | - | | |
NM_001370259.2(MEN1):c.391C>T (p.Arg131Cys) | 4221 | MEN1 | Uncertain significance | 2136180282 | RCV001947792; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577191 | 64577191 | | | 64577191 | - | | |
NM_001370259.2(MEN1):c.390C>T (p.Ser130=) | 4221 | MEN1 | Likely benign | 771272168 | RCV001021418|RCV001462657; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577192 | 64577192 | | | 11:g.64577192G>A | - | | |
NM_001370259.2(MEN1):c.388A>T (p.Ser130Cys) | 4221 | MEN1 | Uncertain significance | 2136180487 | RCV002018830; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577194 | 64577194 | | | 64577194 | - | | |
NM_001370259.2(MEN1):c.387C>G (p.Leu129=) | 4221 | MEN1 | Likely benign | 1257890690 | RCV002079288|RCV002363637; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577195 | 64577195 | | | 64577195 | - | | |
NM_001370259.2(MEN1):c.386del (p.Leu129fs) | 4221 | MEN1 | Pathogenic | 1565651223 | RCV000707308|RCV002352222; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577196 | 64577196 | | | NC_000011.9:g.64577196del | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.381C>G (p.Asn127Lys) | 4221 | MEN1 | Uncertain significance | 1941981145 | RCV001320746; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577201 | 64577201 | | | 64577201 | - | | |
NM_001370259.2(MEN1):c.380A>G (p.Asn127Ser) | 4221 | MEN1 | Uncertain significance | 2136180841 | RCV001947719; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577202 | 64577202 | | | 64577202 | - | | |
NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter) | 4221 | MEN1 | Pathogenic | 1555166365 | RCV000632079; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577204 | 64577204 | | | NC_000011.9:g.64577204C>T | ClinGen:CA381187290 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.377G>A (p.Trp126Ter) | 4221 | MEN1 | Pathogenic | 2136181049 | RCV001916061; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577205 | 64577205 | | | 64577205 | - | | |
NM_001370259.2(MEN1):c.375A>T (p.Ile125=) | 4221 | MEN1 | Likely benign | 184896922 | RCV000464805|RCV001021065; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577207 | 64577207 | | | NC_000011.9:g.64577207T>A | ClinGen:CA061103 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.375A>C (p.Ile125=) | 4221 | MEN1 | Likely benign | 184896922 | RCV000632172; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577207 | 64577207 | | | NC_000011.9:g.64577207T>G | ClinGen:CA475163329 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.374T>C (p.Ile125Thr) | 4221 | MEN1 | Uncertain significance | 1941982084 | RCV001371842; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577208 | 64577208 | | | 64577208 | - | | |
NM_001370259.2(MEN1):c.373A>T (p.Ile125Leu) | 4221 | MEN1 | Uncertain significance | 1941982271 | RCV001913444; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577209 | 64577209 | | | 64577209 | - | | |
NM_001370259.2(MEN1):c.371_372del (p.Val124fs) | 4221 | MEN1 | Pathogenic | 1555166368 | RCV000626631|RCV001198162; | N | 6 conditions|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577210 | 64577211 | | | NC_000011.9:g.64577210_64577211del | ClinGen:CA658797663 | C4025337 Abnormality of calcium homeostasis; | |
NM_001370259.2(MEN1):c.369T>C (p.Asp123=) | 4221 | MEN1 | Likely benign | 1555166369 | RCV000632171; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577213 | 64577213 | | | NC_000011.9:g.64577213A>G | ClinGen:CA475163341 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.367del (p.Asp123fs) | 4221 | MEN1 | Pathogenic | 1941982919 | RCV001215633; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577215 | 64577215 | | | 11:g.64577215_64577215del | - | | |
NM_001370259.2(MEN1):c.367G>A (p.Asp123Asn) | 4221 | MEN1 | Uncertain significance | 1941982745 | RCV002014072; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577215 | 64577215 | | | 64577215 | - | | |
NM_001370259.2(MEN1):c.366C>T (p.Ser122=) | 4221 | MEN1 | Likely benign | 1592658043 | RCV000817967|RCV002453865; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577216 | 64577216 | | | 11:g.64577216G>A | - | | |
NM_001370259.2(MEN1):c.364T>C (p.Ser122Pro) | 4221 | MEN1 | Uncertain significance | 1941983276 | RCV001070452; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577218 | 64577218 | | | 11:g.64577218A>G | - | | |
NM_001370259.2(MEN1):c.361G>A (p.Val121Ile) | 4221 | MEN1 | Uncertain significance | 863224812 | RCV000199154|RCV002460056; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577221 | 64577221 | | | NC_000011.9:g.64577221C>T | ClinGen:CA338424 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.361G>T (p.Val121Phe) | 4221 | MEN1 | Uncertain significance | 863224812 | RCV000706162|RCV002458317; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577221 | 64577221 | | | NC_000011.9:g.64577221C>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) | 4221 | MEN1 | Pathogenic | 794728657 | RCV000018160|RCV000182460|RCV000491280; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577222 | 64577224 | | | NC_000011.9:g.64577223TTC[1] | ClinGen:CA009382,OMIM:613733.0004,OMIM:613733.0025 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.360G>A (p.Lys120=) | 4221 | MEN1 | Likely benign | 1477714779 | RCV001464659; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577222 | 64577222 | | | 64577222 | - | | |
NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter) | 4221 | MEN1 | Pathogenic | 878855192 | RCV000232425; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577224 | 64577224 | | | NC_000011.9:g.64577224T>A | ClinGen:CA10582945 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.352G>A (p.Val118Met) | 4221 | MEN1 | Uncertain significance | 1060499975 | RCV000472854|RCV002339107; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577230 | 64577230 | | | NC_000011.9:g.64577230C>T | ClinGen:CA16613633 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.350del (p.Leu117fs) | 4221 | MEN1 | Pathogenic | 1555166387 | RCV000508545|RCV001380012|RCV002455979; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577232 | 64577232 | | | NC_000011.9:g.64577232del | ClinGen:CA645509451 | CN169374 not specified; | |
NM_001370259.2(MEN1):c.350T>A (p.Leu117Gln) | 4221 | MEN1 | Uncertain significance | -1 | RCV002300108|RCV003382883; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577232 | 64577232 | | | 64577232 | - | | |
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter) | 4221 | MEN1 | Pathogenic | 1060499992 | RCV000469372|RCV002451060; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577236 | 64577236 | | | NC_000011.9:g.64577236C>A | ClinGen:CA16613475 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.346G>A (p.Glu116Lys) | 4221 | MEN1 | Uncertain significance | 1060499992 | RCV001296254; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577236 | 64577236 | | | 64577236 | - | | |
NM_001370259.2(MEN1):c.345T>C (p.Arg115=) | 4221 | MEN1 | Likely benign | 748948131 | RCV000632174|RCV002458003; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577237 | 64577237 | | | NC_000011.9:g.64577237A>G | ClinGen:CA061085 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.344G>A (p.Arg115His) | 4221 | MEN1 | Uncertain significance | 1114167507 | RCV000491521|RCV000526098|RCV001755730; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64577238 | 64577238 | | | NC_000011.9:g.64577238C>T | ClinGen:CA381187365 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.343C>G (p.Arg115Gly) | 4221 | MEN1 | Uncertain significance | 1565651402 | RCV000709161|RCV001020310; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577239 | 64577239 | | | 11:g.64577239G>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.343del (p.Arg115fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002457107|RCV003099486; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577239 | 64577239 | | | 64577238 | - | | |
NM_001370259.2(MEN1):c.342C>T (p.Ser114=) | 4221 | MEN1 | Likely benign | 2136182809 | RCV002176239|RCV002454562; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577240 | 64577240 | | | 64577240 | - | | |
NM_001370259.2(MEN1):c.340dup (p.Ser114fs) | 4221 | MEN1 | Pathogenic | 886041213 | RCV000309108|RCV000490981|RCV001046917; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577241 | 64577242 | | | 11:g.64577241_64577242insT | ClinGen:CA10603131 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.340A>C (p.Ser114Arg) | 4221 | MEN1 | Uncertain significance | 2136182944 | RCV001896383; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577242 | 64577242 | | | 64577242 | - | | |
NM_001370259.2(MEN1):c.339C>T (p.Ser113=) | 4221 | MEN1 | Benign/Likely benign | 559635859 | RCV000197663|RCV000570477; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577243 | 64577243 | | | 11:g.64577243G>A | ClinGen:CA061082 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.338C>T (p.Ser113Phe) | 4221 | MEN1 | Uncertain significance | 1941986326 | RCV001305573; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577244 | 64577244 | | | 64577244 | - | | |
NM_001370259.2(MEN1):c.336C>G (p.Val112=) | 4221 | MEN1 | Likely benign | 1200092213 | RCV000925056|RCV001020110; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577246 | 64577246 | | | 11:g.64577246G>C | - | | |
NM_001370259.2(MEN1):c.336C>T (p.Val112=) | 4221 | MEN1 | Likely benign | 1200092213 | RCV002170731|RCV002454356; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577246 | 64577246 | | | 64577246 | - | | |
NM_001370259.2(MEN1):c.333T>C (p.Gly111=) | 4221 | MEN1 | Likely benign | 1555166432 | RCV000632173; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577249 | 64577249 | | | 11:g.64577249A>G | ClinGen:CA475163444 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.332G>T (p.Gly111Val) | 4221 | MEN1 | Uncertain significance | 2136183365 | RCV001957053; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577250 | 64577250 | | | 64577250 | - | | |
NM_001370259.2(MEN1):c.332del (p.Gly111fs) | 4221 | MEN1 | Pathogenic | -1 | RCV003084889; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577250 | 64577250 | | | NC_000011.9:g.64577254del | - | | |
NM_001370259.2(MEN1):c.332G>A (p.Gly111Asp) | 4221 | MEN1 | Uncertain significance | -1 | RCV002599321; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577250 | 64577250 | | | NC_000011.9:g.64577250C>T | - | | |
NM_001370259.2(MEN1):c.331G>C (p.Gly111Arg) | 4221 | MEN1 | Uncertain significance | 1941987221 | RCV001043888; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577251 | 64577251 | | | 11:g.64577251C>G | - | | |
NM_001370259.2(MEN1):c.330G>C (p.Gly110=) | 4221 | MEN1 | Likely benign | 1060503792 | RCV001500044; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577252 | 64577252 | | | NC_000011.9:g.64577252C>G | ClinGen:CA16613477 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.329G>C (p.Gly110Ala) | 4221 | MEN1 | Uncertain significance | 1389398299 | RCV000708706|RCV001036768; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577253 | 64577253 | | | 11:g.64577253C>G | - | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1389398299 | RCV001049265|RCV002320278; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577253 | 64577253 | | | 11:g.64577253C>T | - | | |
NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp) | 4221 | MEN1 | Uncertain significance | 773976527 | RCV000338822|RCV000686479|RCV003343768; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577255 | 64577255 | | | 11:g.64577255T>G | ClinGen:CA061079 | C0020502 Hyperparathyroidism; | |
NM_001370259.2(MEN1):c.326A>G (p.Glu109Gly) | 4221 | MEN1 | Uncertain significance | 1555166447 | RCV000571825|RCV000632088; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577256 | 64577256 | | | 11:g.64577256T>C | ClinGen:CA381187402 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.323del (p.Arg108fs) | 4221 | MEN1 | Pathogenic | 878855191 | RCV000229514; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577259 | 64577259 | | | 11:g.64577259_64577259del | ClinGen:CA10582946 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs) | 4221 | MEN1 | Pathogenic | 1565651568 | RCV000687229; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577259 | 64577260 | | | 11:g.64577259_64577260insA | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.323G>A (p.Arg108Gln) | 4221 | MEN1 | Uncertain significance | 1565651551 | RCV001214460; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577259 | 64577259 | | | 11:g.64577259C>T | - | | |
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter) | 4221 | MEN1 | Pathogenic | 794728647 | RCV000182446|RCV000491814|RCV000551465; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577260 | 64577260 | | | NC_000011.9:g.64577260G>A | ClinGen:CA009370 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.322C>G (p.Arg108Gly) | 4221 | MEN1 | Uncertain significance | 794728647 | RCV000686088; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577260 | 64577260 | | | 11:g.64577260G>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.321T>C (p.Pro107=) | 4221 | MEN1 | Likely benign | 2136184097 | RCV001396015; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577261 | 64577261 | | | 64577261 | - | | |
NM_001370259.2(MEN1):c.320dup (p.Arg108fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | -1 | RCV003062408; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577261 | 64577262 | | | NC_000011.9:g.64577263dup | - | | |
NM_001370259.2(MEN1):c.319C>T (p.Pro107Ser) | 4221 | MEN1 | Uncertain significance | 1358503577 | RCV001215364; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577263 | 64577263 | | | 11:g.64577263G>A | - | | |
NM_001370259.2(MEN1):c.319C>G (p.Pro107Ala) | 4221 | MEN1 | Uncertain significance | -1 | RCV003461847; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577263 | 64577263 | | | | - | | |
NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter) | 4221 | MEN1 | Pathogenic | 1060499987 | RCV000472445; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577264 | 64577264 | | | NC_000011.9:g.64577264A>T | ClinGen:CA16613689 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs) | 4221 | MEN1 | Pathogenic | 1555166466 | RCV000539020; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577264 | 64577265 | | | 11:g.64577264_64577265del | ClinGen:CA658658068 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.317A>G (p.Tyr106Cys) | 4221 | MEN1 | Uncertain significance | 1555166469 | RCV000571119|RCV000804799; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577265 | 64577265 | | | NC_000011.9:g.64577265T>C | ClinGen:CA381187419 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.312_315dup (p.Tyr106fs) | 4221 | MEN1 | Pathogenic | 1592658517 | RCV000988574; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577266 | 64577267 | | | 11:g.64577266_64577267insGAGG | - | | |
NM_001370259.2(MEN1):c.315C>G (p.Leu105=) | 4221 | MEN1 | Likely benign | 1238374960 | RCV001018866|RCV001504047; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577267 | 64577267 | | | 11:g.64577267G>C | - | | |
NM_001370259.2(MEN1):c.313dup (p.Leu105fs) | 4221 | MEN1 | Pathogenic | 2136184555 | RCV001956107; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577268 | 64577269 | | | 64577268 | - | | |
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val) | 4221 | MEN1 | Uncertain significance | 1941990096 | RCV001067526; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577269 | 64577269 | | | 11:g.64577269G>C | - | | |
NM_001370259.2(MEN1):c.313C>T (p.Leu105Phe) | 4221 | MEN1 | Uncertain significance | 1941990096 | RCV001979663; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577269 | 64577269 | | | 64577269 | - | | |
NM_001370259.2(MEN1):c.312C>T (p.Ser104=) | 4221 | MEN1 | Likely benign | 1592658525 | RCV000933874; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577270 | 64577270 | | | 11:g.64577270G>A | - | | |
NM_001370259.2(MEN1):c.311C>T (p.Ser104Phe) | 4221 | MEN1 | Uncertain significance | 1114167512 | RCV001931951; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577271 | 64577271 | | | 64577271 | - | | |
NM_001370259.2(MEN1):c.308T>G (p.Leu103Arg) | 4221 | MEN1 | Uncertain significance | 2136184835 | RCV001898307; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577274 | 64577274 | | | 64577274 | - | | |
NM_001370259.2(MEN1):c.307del (p.Leu103fs) | 4221 | MEN1 | Pathogenic | 794728639 | RCV000018159|RCV000182435|RCV000491671; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577275 | 64577275 | | | NC_000011.9:g.64577276del | ClinGen:CA009358,OMIM:613733.0003 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.307C>T (p.Leu103=) | 4221 | MEN1 | Likely benign | 1313314117 | RCV000632147|RCV002319543; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577275 | 64577275 | | | 11:g.64577275G>A | ClinGen:CA475163532 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.306C>T (p.Asp102=) | 4221 | MEN1 | Likely benign | -1 | RCV002647073|RCV003308210; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577276 | 64577276 | | | | - | | |
NM_001370259.2(MEN1):c.303C>T (p.Val101=) | 4221 | MEN1 | Likely benign | 1463347315 | RCV000550285|RCV002448631; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577279 | 64577279 | | | NC_000011.9:g.64577279G>A | ClinGen:CA475163545 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.303C>G (p.Val101=) | 4221 | MEN1 | Likely benign | 1463347315 | RCV002077438; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577279 | 64577279 | | | 64577279 | - | | |
NM_001370259.2(MEN1):c.302T>C (p.Val101Ala) | 4221 | MEN1 | Uncertain significance | 771936005 | RCV001367153; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577280 | 64577280 | | | 64577280 | - | | |
NM_001370259.2(MEN1):c.301G>A (p.Val101Ile) | 4221 | MEN1 | Uncertain significance | 1242887389 | RCV001018071|RCV001873307; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577281 | 64577281 | | | 11:g.64577281C>T | - | | |
NM_001370259.2(MEN1):c.300C>G (p.Ala100=) | 4221 | MEN1 | Likely benign | 773136972 | RCV000679257|RCV000613769|RCV001087349|RCV002438305; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577282 | 64577282 | | | NC_000011.9:g.64577282G>C | ClinGen:CA061062 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.300C>T (p.Ala100=) | 4221 | MEN1 | Likely benign | 773136972 | RCV001447332; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577282 | 64577282 | | | 64577282 | - | | |
NM_001370259.2(MEN1):c.299C>T (p.Ala100Val) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 998337367 | RCV000632142|RCV000679256|RCV001017890; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577283 | 64577283 | | | 11:g.64577283G>A | ClinGen:CA223917061 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.298G>T (p.Ala100Ser) | 4221 | MEN1 | Uncertain significance | 1592658683 | RCV000810478; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577284 | 64577284 | | | 11:g.64577284C>A | - | | |
NM_001370259.2(MEN1):c.296G>C (p.Gly99Ala) | 4221 | MEN1 | Uncertain significance | 1941992512 | RCV001238639; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577286 | 64577286 | | | 11:g.64577286C>G | - | | |
NM_001370259.2(MEN1):c.294A>T (p.Arg98=) | 4221 | MEN1 | Likely benign | 2136185660 | RCV001405558; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577288 | 64577288 | | | 64577288 | - | | |
NM_001370259.2(MEN1):c.293G>A (p.Arg98Gln) | 4221 | MEN1 | Uncertain significance | 1592658694 | RCV000808557; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577289 | 64577289 | | | 11:g.64577289C>T | - | | |
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter) | 4221 | MEN1 | Pathogenic | 886039413 | RCV000255438|RCV001244528|RCV002436089; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577290 | 64577290 | | | 11:g.64577290G>A | ClinGen:CA10588535 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.288G>A (p.Gln96=) | 4221 | MEN1 | Likely benign | 2136185997 | RCV002219937; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577294 | 64577294 | | | 64577294 | - | | |
NM_001370259.2(MEN1):c.266_286del (p.Leu89_Ala95del) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1064792906 | RCV000460992|RCV000478848; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64577296 | 64577316 | | | NC_000011.9:g.64577302_64577322del | ClinGen:CA16613478 | | |
NM_001370259.2(MEN1):c.286C>T (p.Gln96Ter) | 4221 | MEN1 | Pathogenic | -1 | RCV003062410; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577296 | 64577296 | | | NC_000011.9:g.64577296G>A | - | | |
NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs) | 4221 | MEN1 | Pathogenic | 1555166494 | RCV000471670; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577297 | 64577298 | | | NC_000011.9:g.64577299_64577303dup | ClinGen:CA16613482 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.283G>T (p.Ala95Ser) | 4221 | MEN1 | Uncertain significance | 1592658740 | RCV000817101; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577299 | 64577299 | | | 11:g.64577299C>A | - | | |
NM_001370259.2(MEN1):c.283G>A (p.Ala95Thr) | 4221 | MEN1 | Uncertain significance | -1 | RCV002435231|RCV003102778; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577299 | 64577299 | | | 64577299 | - | | |
NM_001370259.2(MEN1):c.282C>T (p.Thr94=) | 4221 | MEN1 | Likely benign | 760442763 | RCV000206522|RCV000566889; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577300 | 64577300 | | | 11:g.64577300G>A | ClinGen:CA061057 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile) | 4221 | MEN1 | Uncertain significance | 1565651820 | RCV000701865|RCV002440514|RCV003222115; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64577301 | 64577301 | | | 11:g.64577301G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.275G>A (p.Arg92His) | 4221 | MEN1 | Uncertain significance | 375628323 | RCV001213301|RCV002436822; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577307 | 64577307 | | | 11:g.64577307C>T | - | | |
NM_001370259.2(MEN1):c.274C>A (p.Arg92Ser) | 4221 | MEN1 | Uncertain significance | 1488275961 | RCV001106457|RCV001106458; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64577308 | 64577308 | | | 11:g.64577308G>T | - | | |
NM_001370259.2(MEN1):c.274C>G (p.Arg92Gly) | 4221 | MEN1 | Uncertain significance | 1488275961 | RCV001217959; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577308 | 64577308 | | | 11:g.64577308G>C | - | | |
NM_001370259.2(MEN1):c.274C>T (p.Arg92Cys) | 4221 | MEN1 | Uncertain significance | 1488275961 | RCV001204794; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577308 | 64577308 | | | 11:g.64577308G>A | - | | |
NM_001370259.2(MEN1):c.274del (p.Arg92fs) | 4221 | MEN1 | Likely pathogenic | 2136186754 | RCV002223017; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577308 | 64577308 | | | 64577307 | - | | |
NM_001370259.2(MEN1):c.269_270dup (p.Ala91fs) | 4221 | MEN1 | Pathogenic | 1941994887 | RCV001043462; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577311 | 64577312 | | | 11:g.64577311_64577312insAT | - | | |
NM_001370259.2(MEN1):c.271G>T (p.Ala91Ser) | 4221 | MEN1 | Uncertain significance | 2136186838 | RCV002028876|RCV003170568; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577311 | 64577311 | | | 64577311 | - | | |
NM_001370259.2(MEN1):c.269dup (p.Tyr90Ter) | 4221 | MEN1 | Pathogenic | 2136187018 | RCV001387770; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577312 | 64577313 | | | 64577312 | - | | |
NM_001370259.2(MEN1):c.269A>G (p.Tyr90Cys) | 4221 | MEN1 | Uncertain significance | 1565651873 | RCV000693398; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577313 | 64577313 | | | 11:g.64577313T>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.267C>G (p.Leu89=) | 4221 | MEN1 | Likely benign | 1060499972 | RCV000470195|RCV002436376; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577315 | 64577315 | | | NC_000011.9:g.64577315G>C | ClinGen:CA16613483 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.248_266del (p.Leu83fs) | 4221 | MEN1 | Pathogenic | 2136187161 | RCV001384977; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577316 | 64577334 | | | 64577315 | - | | |
NM_001370259.2(MEN1):c.266T>C (p.Leu89Pro) | 4221 | MEN1 | Uncertain significance | 2136187120 | RCV001881404; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577316 | 64577316 | | | 64577316 | - | | |
NM_001370259.2(MEN1):c.265C>T (p.Leu89Phe) | 4221 | MEN1 | Uncertain significance | -1 | RCV002810697|RCV003167806; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577317 | 64577317 | | | NC_000011.9:g.64577317G>A | - | | |
NM_001370259.2(MEN1):c.263C>G (p.Ala88Gly) | 4221 | MEN1 | Uncertain significance | -1 | RCV002838705; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577319 | 64577319 | | | NC_000011.9:g.64577319G>C | - | | |
NM_001370259.2(MEN1):c.259_260insTCGC (p.Ala87fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002872250; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577322 | 64577323 | | | NC_000011.9:g.64577322_64577323insGCGA | - | | |
NM_001370259.2(MEN1):c.259G>A (p.Ala87Thr) | 4221 | MEN1 | Uncertain significance | -1 | RCV003461848; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577323 | 64577323 | | | | - | | |
NM_001370259.2(MEN1):c.258C>T (p.Ile86=) | 4221 | MEN1 | Likely benign | 759731868 | RCV001016032|RCV001426905; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577324 | 64577324 | | | 11:g.64577324G>A | - | | |
NM_001370259.2(MEN1):c.252dup (p.Ile85fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 386134253 | RCV000030201; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577329 | 64577330 | | | 11:g.64577329_64577330insA | ClinGen:CA260457 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.252_253insTT (p.Ile85fs) | 4221 | MEN1 | Pathogenic | 386134253 | RCV000468271; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577329 | 64577330 | | | NC_000011.9:g.64577330_64577331insAA | ClinGen:CA16613485 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.253A>G (p.Ile85Val) | 4221 | MEN1 | Uncertain significance | -1 | RCV003470091; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577329 | 64577329 | | | | - | | |
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) | 4221 | MEN1 | Pathogenic | 587776841 | RCV000018173|RCV000206170|RCV000182434|RCV000491114; | N | MedGen:C4017330|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577330 | 64577333 | | | 11:g.64577330_64577333del | ClinGen:CA009345,OMIM:613733.0002,OMIM:613733.0017 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.252T>C (p.Ser84=) | 4221 | MEN1 | Likely benign | 1592658989 | RCV001505382; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577330 | 64577330 | | | 11:g.64577330A>G | - | | |
NM_001370259.2(MEN1):c.247_249dup (p.Leu83_Ser84insLeu) | 4221 | MEN1 | Uncertain significance | -1 | RCV002861410; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577332 | 64577333 | | | NC_000011.9:g.64577333_64577335dup | - | | |
NM_001370259.2(MEN1):c.249G>A (p.Leu83=) | 4221 | MEN1 | Likely benign | 386134252 | RCV000030200; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577333 | 64577333 | | | 11:g.64577333C>T | ClinGen:CA009351 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.249G>T (p.Leu83=) | 4221 | MEN1 | Likely benign | 386134252 | RCV001395035; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577333 | 64577333 | | | 64577333 | - | | |
NM_001370259.2(MEN1):c.248T>A (p.Leu83Gln) | 4221 | MEN1 | Uncertain significance | 752747097 | RCV001040361; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577334 | 64577334 | | | 11:g.64577334A>T | - | | |
NM_001370259.2(MEN1):c.248T>C (p.Leu83Pro) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 752747097 | RCV001361208|RCV003169798; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577334 | 64577334 | | | 64577334 | - | | |
NM_001370259.2(MEN1):c.246C>G (p.Asp82Glu) | 4221 | MEN1 | Uncertain significance | 1238113583 | RCV000557501|RCV002431542; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577336 | 64577336 | | | NC_000011.9:g.64577336G>C | ClinGen:CA381187564 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.246C>T (p.Asp82=) | 4221 | MEN1 | Likely benign | 1238113583 | RCV002170805|RCV002443107; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577336 | 64577336 | | | 64577336 | - | | |
NM_001370259.2(MEN1):c.244G>C (p.Asp82His) | 4221 | MEN1 | Uncertain significance | 1419086083 | RCV000549380|RCV002431541; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577338 | 64577338 | | | NC_000011.9:g.64577338C>G | ClinGen:CA381187571 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.244G>A (p.Asp82Asn) | 4221 | MEN1 | Uncertain significance | 1419086083 | RCV001300074; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577338 | 64577338 | | | 64577338 | - | | |
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr) | 4221 | MEN1 | Uncertain significance | -1 | RCV003470095; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577338 | 64577338 | | | | - | | |
NM_001370259.2(MEN1):c.243C>T (p.Ala81=) | 4221 | MEN1 | Likely benign | -1 | RCV002780370; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577339 | 64577339 | | | | - | | |
NM_001370259.2(MEN1):c.241G>A (p.Ala81Thr) | 4221 | MEN1 | Uncertain significance | 2136188110 | RCV001954080; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577341 | 64577341 | | | 64577341 | - | | |
NM_001370259.2(MEN1):c.241del (p.Ala81fs) | 4221 | MEN1 | Pathogenic | -1 | RCV003029164; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577341 | 64577341 | | | NC_000011.9:g.64577342del | - | | |
NM_001370259.2(MEN1):c.240G>T (p.Val80=) | 4221 | MEN1 | Likely benign | 1555166545 | RCV000632150; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577342 | 64577342 | | | 11:g.64577342C>A | ClinGen:CA475163770 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.238del (p.Val80fs) | 4221 | MEN1 | Pathogenic | 2136188216 | RCV001381751; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577344 | 64577344 | | | 64577343 | - | | |
NM_001370259.2(MEN1):c.238G>A (p.Val80Met) | 4221 | MEN1 | Uncertain significance | -1 | RCV002629633; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577344 | 64577344 | | | NC_000011.9:g.64577344C>T | - | | |
NM_001370259.2(MEN1):c.237del (p.Val80fs) | 4221 | MEN1 | Pathogenic | 1114167486 | RCV000491464|RCV000704558; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577345 | 64577345 | | | NC_000011.9:g.64577347del | ClinGen:CA475163782 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.237C>T (p.Pro79=) | 4221 | MEN1 | Likely benign | 1592659200 | RCV001015323|RCV002068904; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577345 | 64577345 | | | 11:g.64577345G>A | - | | |
NM_001370259.2(MEN1):c.237C>G (p.Pro79=) | 4221 | MEN1 | Likely benign | 1592659200 | RCV001473443; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577345 | 64577345 | | | 64577345 | - | | |
NM_001370259.2(MEN1):c.236C>G (p.Pro79Arg) | 4221 | MEN1 | Uncertain significance | 1555166557 | RCV000632130; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577346 | 64577346 | | | 11:g.64577346G>C | ClinGen:CA381187585 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.236C>T (p.Pro79Leu) | 4221 | MEN1 | Uncertain significance | 1555166557 | RCV000804127|RCV002453782; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577346 | 64577346 | | | 11:g.64577346G>A | - | | |
NM_001370259.2(MEN1):c.234dup (p.Pro79fs) | 4221 | MEN1 | Pathogenic | 2136188431 | RCV001390533|RCV003382568; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577347 | 64577348 | | | 64577347 | - | | |
NM_001370259.2(MEN1):c.235C>G (p.Pro79Ala) | 4221 | MEN1 | Uncertain significance | -1 | RCV003003144; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577347 | 64577347 | | | NC_000011.9:g.64577347G>C | - | | |
NM_001370259.2(MEN1):c.234T>C (p.Phe78=) | 4221 | MEN1 | Likely benign | 2136188387 | RCV001503354; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577348 | 64577348 | | | 64577348 | - | | |
NM_001370259.2(MEN1):c.234del (p.Val80fs) | 4221 | MEN1 | Pathogenic | 2136188431 | RCV001917452; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577348 | 64577348 | | | 64577347 | - | | |
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1555166567 | RCV000632123|RCV002248835|RCV002448939; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577351 | 64577351 | | | 11:g.64577351G>C | ClinGen:CA381187598 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.230A>G (p.Tyr77Cys) | 4221 | MEN1 | Uncertain significance | -1 | RCV002446416|RCV003101729; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577352 | 64577352 | | | 64577352 | - | | |
NM_001370259.2(MEN1):c.228C>T (p.Thr76=) | 4221 | MEN1 | Likely benign | 1394017906 | RCV001423824|RCV002445006; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577354 | 64577354 | | | 11:g.64577354G>A | - | | |
NM_001370259.2(MEN1):c.228C>G (p.Thr76=) | 4221 | MEN1 | Likely benign | 1394017906 | RCV001046976; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577354 | 64577354 | | | 11:g.64577354G>C | - | | |
NM_001370259.2(MEN1):c.227C>A (p.Thr76Asn) | 4221 | MEN1 | Uncertain significance | 886039752 | RCV000255896|RCV001246047; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577355 | 64577355 | | | 11:g.64577355G>T | ClinGen:CA10588536 | CN169374 not specified; | |
NM_001370259.2(MEN1):c.227C>T (p.Thr76Ile) | 4221 | MEN1 | Uncertain significance | -1 | RCV002510439|RCV002569437; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577355 | 64577355 | | | NC_000011.9:g.64577355G>A | - | | |
NM_001370259.2(MEN1):c.226A>T (p.Thr76Ser) | 4221 | MEN1 | Uncertain significance | 1592659343 | RCV001226580|RCV003346392; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577356 | 64577356 | | | 11:g.64577356T>A | - | | |
NM_001370259.2(MEN1):c.225C>A (p.Leu75=) | 4221 | MEN1 | Likely benign | 1333791405 | RCV000603478|RCV001427745; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577357 | 64577357 | | | 11:g.64577357G>T | ClinGen:CA475163804 | CN169374 not specified; | |
NM_001370259.2(MEN1):c.225C>T (p.Leu75=) | 4221 | MEN1 | Likely benign | 1333791405 | RCV001436230|RCV002442837; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577357 | 64577357 | | | 11:g.64577357G>A | - | | |
NM_001370259.2(MEN1):c.220G>T (p.Gly74Cys) | 4221 | MEN1 | Uncertain significance | 2136188922 | RCV001968176|RCV003170196; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577362 | 64577362 | | | 64577362 | - | | |
NM_001370259.2(MEN1):c.219C>T (p.Gly73=) | 4221 | MEN1 | Likely benign | 758434243 | RCV001435855|RCV002432212|RCV003405663; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64577363 | 64577363 | | | 64577363 | - | | |
NM_001370259.2(MEN1):c.219C>A (p.Gly73=) | 4221 | MEN1 | Likely benign | -1 | RCV002871928; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577363 | 64577363 | | | | - | | |
NM_001370259.2(MEN1):c.216_217insA (p.Gly73fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002815912; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577365 | 64577366 | | | NC_000011.9:g.64577365_64577366insT | - | | |
NM_001370259.2(MEN1):c.217G>T (p.Gly73Cys) | 4221 | MEN1 | Uncertain significance | -1 | RCV002963215; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577365 | 64577365 | | | NC_000011.9:g.64577365C>A | - | | |
NM_001370259.2(MEN1):c.216T>G (p.Pro72=) | 4221 | MEN1 | Likely benign | 1592659467 | RCV001409524|RCV002420914; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577366 | 64577366 | | | 64577366 | - | | |
NM_001370259.2(MEN1):c.215C>A (p.Pro72His) | 4221 | MEN1 | Uncertain significance | 878856863 | RCV000695116|RCV002422524; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577367 | 64577367 | | | NC_000011.9:g.64577367G>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.215C>T (p.Pro72Leu) | 4221 | MEN1 | Uncertain significance | 878856863 | RCV001910996; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577367 | 64577367 | | | 64577367 | - | | |
NM_001370259.2(MEN1):c.213G>T (p.Pro71=) | 4221 | MEN1 | Likely benign | 778154183 | RCV002101973|RCV002427676; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577369 | 64577369 | | | 64577369 | - | | |
NM_001370259.2(MEN1):c.213G>A (p.Pro71=) | 4221 | MEN1 | Likely benign | 778154183 | RCV002114571|RCV003161591; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577369 | 64577369 | | | 64577369 | - | | |
NM_001370259.2(MEN1):c.211_212del (p.Pro71fs) | 4221 | MEN1 | Pathogenic | 386134251 | RCV000030199|RCV000182433; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64577370 | 64577371 | | | 11:g.64577370_64577371del | ClinGen:CA009338 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.211C>T (p.Pro71Ser) | 4221 | MEN1 | Uncertain significance | 1592659522 | RCV000805744; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577371 | 64577371 | | | 11:g.64577371G>A | - | | |
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu) | 4221 | MEN1 | Uncertain significance | 150308912 | RCV000574548|RCV000796273; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577372 | 64577372 | | | NC_000011.9:g.64577372G>T | ClinGen:CA061004 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.210C>G (p.Asp70Glu) | 4221 | MEN1 | Uncertain significance | 150308912 | RCV001982471; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577372 | 64577372 | | | 64577372 | - | | |
NM_001370259.2(MEN1):c.208G>T (p.Asp70Tyr) | 4221 | MEN1 | Uncertain significance | 1283021293 | RCV000792347|RCV002422678; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577374 | 64577374 | | | 11:g.64577374C>A | - | | |
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn) | 4221 | MEN1 | Uncertain significance | 1283021293 | RCV001305245|RCV002418924; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577374 | 64577374 | | | 64577374 | - | | |
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs) | 4221 | MEN1 | Pathogenic | 730882136 | RCV000161945|RCV000182459|RCV002415705; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577375 | 64577376 | | | NC_000011.9:g.64577376GGGGC[3] | ClinGen:CA009325 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.207C>A (p.Pro69=) | 4221 | MEN1 | Likely benign | 2136189522 | RCV001501661; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577375 | 64577375 | | | 64577375 | - | | |
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser) | 4221 | MEN1 | Uncertain significance | 1060499995 | RCV000461607|RCV003362788|RCV003401444; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 11 | 64577377 | 64577377 | | | NC_000011.9:g.64577377G>A | ClinGen:CA16613486 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.204C>A (p.Ala68=) | 4221 | MEN1 | Likely benign | 2136189673 | RCV002076219|RCV002416461; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577378 | 64577378 | | | 64577378 | - | | |
NM_001370259.2(MEN1):c.204C>T (p.Ala68=) | 4221 | MEN1 | Likely benign | 2136189673 | RCV002153612; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577378 | 64577378 | | | 64577378 | - | | |
NM_001370259.2(MEN1):c.203C>T (p.Ala68Val) | 4221 | MEN1 | Uncertain significance | 1319371332 | RCV000697108; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577379 | 64577379 | | | 11:g.64577379G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.202G>A (p.Ala68Thr) | 4221 | MEN1 | Uncertain significance | 1343345477 | RCV000699868|RCV002422559; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577380 | 64577380 | | | NC_000011.9:g.64577380C>T | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.201C>T (p.Pro67=) | 4221 | MEN1 | Likely benign | 1060503791 | RCV000460216|RCV000563989; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577381 | 64577381 | | | NC_000011.9:g.64577381G>A | ClinGen:CA16613634 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) | 4221 | MEN1 | Pathogenic | 1555166609 | RCV000462360|RCV001269621|RCV002418346; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577381 | 64577382 | | | NC_000011.9:g.64577384GCTGG[3] | ClinGen:CA16613636 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.201del (p.Ala68fs) | 4221 | MEN1 | Pathogenic | 2136189816 | RCV001374378; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577381 | 64577381 | | | 64577380 | - | | |
NM_001370259.2(MEN1):c.200C>T (p.Pro67Leu) | 4221 | MEN1 | Likely benign | 757766498 | RCV001037759; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577382 | 64577382 | | | 11:g.64577382G>A | - | | |
NM_001370259.2(MEN1):c.200C>G (p.Pro67Arg) | 4221 | MEN1 | Uncertain significance | 757766498 | RCV002017599|RCV002423231; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577382 | 64577382 | | | 64577382 | - | | |
NM_001370259.2(MEN1):c.198C>T (p.Ser66=) | 4221 | MEN1 | Likely benign | 2136189969 | RCV001408853|RCV002420911; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577384 | 64577384 | | | 64577384 | - | | |
NM_001370259.2(MEN1):c.197G>T (p.Ser66Ile) | 4221 | MEN1 | Uncertain significance | -1 | RCV002711270|RCV003308243; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577385 | 64577385 | | | NC_000011.9:g.64577385C>A | - | | |
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg) | 4221 | MEN1 | Uncertain significance | 1942005110 | RCV001364873|RCV003298585; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577386 | 64577386 | | | 64577386 | - | | |
NM_001370259.2(MEN1):c.195C>A (p.Pro65=) | 4221 | MEN1 | Likely benign | 1438097332 | RCV000632176; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577387 | 64577387 | | | 11:g.64577387G>T | ClinGen:CA475163864 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.195C>T (p.Pro65=) | 4221 | MEN1 | Likely benign | 1438097332 | RCV002184214; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577387 | 64577387 | | | 64577387 | - | | |
NM_001370259.2(MEN1):c.195del (p.Ser66fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002889811; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577387 | 64577387 | | | NC_000011.9:g.64577389del | - | | |
NM_001370259.2(MEN1):c.194C>A (p.Pro65His) | 4221 | MEN1 | Uncertain significance | 1114167484 | RCV000491453|RCV001856928; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577388 | 64577388 | | | NC_000011.9:g.64577388G>T | ClinGen:CA381187672 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.193C>A (p.Pro65Thr) | 4221 | MEN1 | Uncertain significance | 1235900915 | RCV000632119; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577389 | 64577389 | | | NC_000011.9:g.64577389G>T | ClinGen:CA381187675 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.189C>G (p.Phe63Leu) | 4221 | MEN1 | Uncertain significance | 137880635 | RCV000523092|RCV000559995|RCV001013550|RCV001821464; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 11 | 64577393 | 64577393 | | | 11:g.64577393G>C | ClinGen:CA060980 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.189C>T (p.Phe63=) | 4221 | MEN1 | Likely benign | 137880635 | RCV002088727; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577393 | 64577393 | | | 64577393 | - | | |
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr) | 4221 | MEN1 | Uncertain significance | 1366457977 | RCV000820097|RCV001013466; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577394 | 64577394 | | | 11:g.64577394A>T | - | | |
NM_001370259.2(MEN1):c.184A>C (p.Thr62Pro) | 4221 | MEN1 | Uncertain significance | 1555166619 | RCV000632143; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577398 | 64577398 | | | NC_000011.9:g.64577398T>G | ClinGen:CA381187694 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.183C>A (p.Leu61=) | 4221 | MEN1 | Likely benign | 1555166622 | RCV000632146; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577399 | 64577399 | | | NC_000011.9:g.64577399G>T | ClinGen:CA475163881 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.180G>A (p.Glu60=) | 4221 | MEN1 | Likely benign | 2136190736 | RCV002137658|RCV002409530; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577402 | 64577402 | | | 64577402 | - | | |
NM_001370259.2(MEN1):c.179A>G (p.Glu60Gly) | 4221 | MEN1 | Uncertain significance | 1942007547 | RCV001234671; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577403 | 64577403 | | | 11:g.64577403T>C | - | | |
NM_001370259.2(MEN1):c.178G>A (p.Glu60Lys) | 4221 | MEN1 | Uncertain significance | 1174208039 | RCV001071121|RCV002402482; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577404 | 64577404 | | | 11:g.64577404C>T | - | | |
NM_001370259.2(MEN1):c.178G>C (p.Glu60Gln) | 4221 | MEN1 | Uncertain significance | 1174208039 | RCV001864219|RCV003289130; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MeSH:D030342,MedGen:C0950123 | 11 | 64577404 | 64577404 | | | 64577404 | - | | |
NM_001370259.2(MEN1):c.177C>T (p.Pro59=) | 4221 | MEN1 | Uncertain significance | 749001511 | RCV000632118; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577405 | 64577405 | | | NC_000011.9:g.64577405G>A | ClinGen:CA475163890 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.177C>G (p.Pro59=) | 4221 | MEN1 | Likely benign | 749001511 | RCV000679254|RCV002060848; | N | MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577405 | 64577405 | | | NC_000011.9:g.64577405G>C | - | CN517202 not provided; | |
NM_001370259.2(MEN1):c.176C>G (p.Pro59Arg) | 4221 | MEN1 | Uncertain significance | 768445858 | RCV000809017; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577406 | 64577406 | | | 11:g.64577406G>C | - | | |
NM_001370259.2(MEN1):c.175C>G (p.Pro59Ala) | 4221 | MEN1 | Uncertain significance | 1352823623 | RCV000632128|RCV002404748; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577407 | 64577407 | | | 11:g.64577407G>C | ClinGen:CA381187714 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.175C>T (p.Pro59Ser) | 4221 | MEN1 | Uncertain significance | 1352823623 | RCV001013000|RCV001860729; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577407 | 64577407 | | | 11:g.64577407G>A | - | | |
NM_001370259.2(MEN1):c.162_173del (p.Thr56_Pro59del) | 4221 | MEN1 | Uncertain significance | -1 | RCV003009590; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577409 | 64577420 | | | NC_000011.9:g.64577410_64577421del | - | | |
NM_001370259.2(MEN1):c.171C>A (p.Asn57Lys) | 4221 | MEN1 | Uncertain significance | 1171829753 | RCV001012867|RCV001218098; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577411 | 64577411 | | | 11:g.64577411G>T | - | | |
NM_001370259.2(MEN1):c.171C>T (p.Asn57=) | 4221 | MEN1 | Likely benign | 1171829753 | RCV002139856|RCV002400350; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577411 | 64577411 | | | 64577411 | - | | |
NM_001370259.2(MEN1):c.168del (p.Asn57fs) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1060499990 | RCV000460562|RCV000486690; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64577414 | 64577414 | | | NC_000011.9:g.64577415del | ClinGen:CA16613697 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.165T>A (p.Pro55=) | 4221 | MEN1 | Likely benign | 1060503790 | RCV001498825; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577417 | 64577417 | | | NC_000011.9:g.64577417A>T | ClinGen:CA16613638 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.165T>C (p.Pro55=) | 4221 | MEN1 | Likely benign | 1060503790 | RCV001482401; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577417 | 64577417 | | | 11:g.64577417A>G | - | | |
NM_001370259.2(MEN1):c.163C>T (p.Pro55Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV003015713; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577419 | 64577419 | | | NC_000011.9:g.64577419G>A | - | | |
NM_001370259.2(MEN1):c.162C>T (p.Ile54=) | 4221 | MEN1 | Likely benign | 1555166662 | RCV000562193|RCV001505816; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577420 | 64577420 | | | NC_000011.9:g.64577420G>A | ClinGen:CA475163916 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.160del (p.Ile54fs) | 4221 | MEN1 | Pathogenic | -1 | RCV002736426; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577422 | 64577422 | | | NC_000011.9:g.64577422del | - | | |
NM_001370259.2(MEN1):c.159C>T (p.Val53=) | 4221 | MEN1 | Likely benign | 1411927545 | RCV001407849; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577423 | 64577423 | | | 11:g.64577423G>A | - | | |
NM_001370259.2(MEN1):c.159C>A (p.Val53=) | 4221 | MEN1 | Likely benign | 1411927545 | RCV001426354; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577423 | 64577423 | | | 64577423 | - | | |
NM_001370259.2(MEN1):c.159C>G (p.Val53=) | 4221 | MEN1 | Likely benign | 1411927545 | RCV001480451; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577423 | 64577423 | | | 64577423 | - | | |
NM_001370259.2(MEN1):c.157G>C (p.Val53Leu) | 4221 | MEN1 | Uncertain significance | 2136191735 | RCV001941308; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577425 | 64577425 | | | 64577425 | - | | |
NM_001370259.2(MEN1):c.156C>A (p.Arg52=) | 4221 | MEN1 | Likely benign | 1592659960 | RCV001451254; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577426 | 64577426 | | | 11:g.64577426G>T | - | | |
NM_001370259.2(MEN1):c.156C>T (p.Arg52=) | 4221 | MEN1 | Likely benign | 1592659960 | RCV001428860; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577426 | 64577426 | | | 64577426 | - | | |
NM_001370259.2(MEN1):c.155G>A (p.Arg52His) | 4221 | MEN1 | Uncertain significance | 1942010221 | RCV001050537|RCV002400286; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577427 | 64577427 | | | 11:g.64577427C>T | - | | |
NM_001370259.2(MEN1):c.154C>T (p.Arg52Cys) | 4221 | MEN1 | Uncertain significance | 1555166664 | RCV000562813|RCV002530339; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577428 | 64577428 | | | 11:g.64577428G>A | ClinGen:CA381187771 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly) | 4221 | MEN1 | Uncertain significance | 1555166664 | RCV001340367; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577428 | 64577428 | | | 64577428 | - | | |
NM_001370259.2(MEN1):c.154C>A (p.Arg52Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV002300432; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577428 | 64577428 | | | 64577428 | - | | |
NM_001370259.2(MEN1):c.153C>T (p.Asn51=) | 4221 | MEN1 | Likely benign | 1555166669 | RCV000527744|RCV002404382; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577429 | 64577429 | | | 11:g.64577429G>A | ClinGen:CA475163932 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.152dup (p.Asn51fs) | 4221 | MEN1 | Pathogenic | 869312167 | RCV002002502; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577429 | 64577430 | | | 64577429 | - | | |
NM_001370259.2(MEN1):c.153C>G (p.Asn51Lys) | 4221 | MEN1 | Uncertain significance | -1 | RCV002837678; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577429 | 64577429 | | | NC_000011.9:g.64577429G>C | - | | |
NM_001370259.2(MEN1):c.152A>G (p.Asn51Ser) | 4221 | MEN1 | Uncertain significance | 1942010838 | RCV001239337; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577430 | 64577430 | | | 11:g.64577430T>C | - | | |
NM_001370259.2(MEN1):c.150C>T (p.Val50=) | 4221 | MEN1 | Likely benign | 2136192168 | RCV002163718|RCV002391337; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577432 | 64577432 | | | 64577432 | - | | |
NM_001370259.2(MEN1):c.148G>A (p.Val50Ile) | 4221 | MEN1 | Uncertain significance | 1942011354 | RCV001062618; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577434 | 64577434 | | | 11:g.64577434C>T | - | | |
NM_001370259.2(MEN1):c.148G>C (p.Val50Leu) | 4221 | MEN1 | Uncertain significance | 1942011354 | RCV001898471; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577434 | 64577434 | | | 64577434 | - | | |
NM_001370259.2(MEN1):c.146C>T (p.Ala49Val) | 4221 | MEN1 | Uncertain significance | 1555166674 | RCV000632133|RCV003380647; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577436 | 64577436 | | | 11:g.64577436G>A | ClinGen:CA381187800 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.145G>A (p.Ala49Thr) | 4221 | MEN1 | Uncertain significance | 1942011819 | RCV001205296; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577437 | 64577437 | | | 11:g.64577437C>T | - | | |
NM_001370259.2(MEN1):c.145G>T (p.Ala49Ser) | 4221 | MEN1 | Uncertain significance | -1 | RCV002627787; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577437 | 64577437 | | | NC_000011.9:g.64577437C>A | - | | |
NM_001370259.2(MEN1):c.139_143dup (p.Ala49fs) | 4221 | MEN1 | Pathogenic | -1 | RCV003040679; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577438 | 64577439 | | | NC_000011.9:g.64577440_64577444dup | - | | |
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1592660057 | RCV001011589|RCV001860673; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577439 | 64577439 | | | 11:g.64577439A>G | - | | |
NM_001370259.2(MEN1):c.142del (p.Leu48fs) | 4221 | MEN1 | Pathogenic | 1555166681 | RCV000632124; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577440 | 64577440 | | | NC_000011.9:g.64577440del | ClinGen:CA658797665 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.142C>T (p.Leu48=) | 4221 | MEN1 | Likely benign | 2136192593 | RCV002208150; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577440 | 64577440 | | | 64577440 | - | | |
NM_001370259.2(MEN1):c.137A>C (p.His46Pro) | 4221 | MEN1 | Uncertain significance | 2136192730 | RCV001999316; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577445 | 64577445 | | | 64577445 | - | | |
NM_001370259.2(MEN1):c.137A>T (p.His46Leu) | 4221 | MEN1 | Likely pathogenic | -1 | RCV003233050; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577445 | 64577445 | | | | - | | |
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 778670301 | RCV000464526|RCV001011173; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577447 | 64577447 | | | NC_000011.9:g.64577447C>G | ClinGen:CA16613432 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.135G>A (p.Glu45=) | 4221 | MEN1 | Likely benign | 778670301 | RCV001490664|RCV002384808; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577447 | 64577447 | | | 64577447 | - | | |
NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly) | 4221 | MEN1 | Pathogenic | 1592660101 | RCV000796726; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577448 | 64577448 | | | 11:g.64577448T>C | - | | |
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys) | 4221 | MEN1 | Pathogenic | 1114167491 | RCV000491351|RCV000696687; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577449 | 64577449 | | | NC_000011.9:g.64577449C>T | ClinGen:CA381187857 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.133G>C (p.Glu45Gln) | 4221 | MEN1 | Pathogenic | -1 | RCV003058327; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577449 | 64577449 | | | NC_000011.9:g.64577449C>G | - | | |
NM_001370259.2(MEN1):c.132G>T (p.Val44=) | 4221 | MEN1 | Likely benign | 1555166691 | RCV000632155; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577450 | 64577450 | | | NC_000011.9:g.64577450C>A | ClinGen:CA475162946 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.129C>G (p.Phe43Leu) | 4221 | MEN1 | Uncertain significance | 1592660139 | RCV000815127; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577453 | 64577453 | | | 11:g.64577453G>C | - | | |
NM_001370259.2(MEN1):c.126C>T (p.Gly42=) | 4221 | MEN1 | Likely benign | 2136193097 | RCV001471189; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577456 | 64577456 | | | 64577456 | - | | |
NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala) | 4221 | MEN1 | Pathogenic | 1565652689 | RCV000802906; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577457 | 64577457 | | | 11:g.64577457C>G | - | | |
NM_001370259.2(MEN1):c.119_124del (p.Val40_Leu41del) | 4221 | MEN1 | Uncertain significance | 386134248 | RCV000030195|RCV000722115; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64577458 | 64577463 | | | NC_000011.9:g.64577461_64577466del | ClinGen:CA009063 | | |
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1942013583 | RCV001302220|RCV001812275; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64577458 | 64577458 | | | 64577458 | - | | |
NM_001370259.2(MEN1):c.108_122dup (p.Leu37_Leu41dup) | 4221 | MEN1 | Uncertain significance | 1555166695 | RCV000632140; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577459 | 64577460 | | | 11:g.64577459_64577460insAGCACCAAGGAAAGG | ClinGen:CA658797666 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 1555166695 | RCV000491599|RCV002527049; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577460 | 64577474 | | | NC_000011.9:g.64577467_64577481del | ClinGen:CA645369572 | | |
NM_001370259.2(MEN1):c.121C>T (p.Leu41=) | 4221 | MEN1 | Likely benign | 1441672096 | RCV001010404|RCV001427949; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577461 | 64577461 | | | 11:g.64577461G>A | - | | |
NM_001370259.2(MEN1):c.120G>T (p.Val40=) | 4221 | MEN1 | Likely benign | 1306316325 | RCV001478208; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577462 | 64577462 | | | 11:g.64577462C>A | - | | |
NM_001370259.2(MEN1):c.117_118del (p.Leu39fs) | 4221 | MEN1 | Pathogenic | 2136193574 | RCV001384373; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577464 | 64577465 | | | 64577463 | - | | |
NM_001370259.2(MEN1):c.117G>A (p.Leu39=) | 4221 | MEN1 | Uncertain significance | 2136193601 | RCV001872788; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577465 | 64577465 | | | 64577465 | - | | |
NM_001370259.2(MEN1):c.115T>C (p.Leu39=) | 4221 | MEN1 | Likely benign | 863224438 | RCV000195578|RCV001010026; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577467 | 64577467 | | | 11:g.64577467A>G | ClinGen:CA335778 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.114C>G (p.Ser38=) | 4221 | MEN1 | Likely benign | 1252317486 | RCV000533537|RCV002456059; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577468 | 64577468 | | | NC_000011.9:g.64577468G>C | ClinGen:CA475163013 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 794728616 | RCV000491203|RCV000632104; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577469 | 64577469 | | | NC_000011.9:g.64577469G>A | ClinGen:CA009043 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.108C>G (p.Leu36=) | 4221 | MEN1 | Likely benign | 1592660352 | RCV001493987; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577474 | 64577474 | | | 11:g.64577474G>C | - | | |
NM_001370259.2(MEN1):c.108C>T (p.Leu36=) | 4221 | MEN1 | Likely benign | -1 | RCV002909092; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577474 | 64577474 | | | | - | | |
NM_001370259.2(MEN1):c.105dup (p.Leu36fs) | 4221 | MEN1 | Pathogenic | 1555166711 | RCV000486614|RCV001851251; | N | MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577476 | 64577477 | | | NC_000011.9:g.64577477dup | ClinGen:CA16619368 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.103G>C (p.Val35Leu) | 4221 | MEN1 | Uncertain significance | -1 | RCV003047426; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577479 | 64577479 | | | NC_000011.9:g.64577479C>G | - | | |
NM_001370259.2(MEN1):c.102G>A (p.Leu34=) | 4221 | MEN1 | Likely benign | 1255708093 | RCV001402881|RCV002382145; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577480 | 64577480 | | | 11:g.64577480C>T | - | | |
NM_001370259.2(MEN1):c.102G>C (p.Leu34=) | 4221 | MEN1 | Likely benign | 1255708093 | RCV001490151|RCV002255674; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577480 | 64577480 | | | 64577480 | - | | |
NM_001370259.2(MEN1):c.100C>A (p.Leu34Met) | 4221 | MEN1 | Uncertain significance | 771554497 | RCV000229989|RCV000492008; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577482 | 64577482 | | | NC_000011.9:g.64577482G>T | ClinGen:CA10582947 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.100C>T (p.Leu34=) | 4221 | MEN1 | Likely benign | 771554497 | RCV000632162; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577482 | 64577482 | | | NC_000011.9:g.64577482G>A | ClinGen:CA059683 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.99C>T (p.Asp33=) | 4221 | MEN1 | Likely benign | -1 | RCV002839220; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577483 | 64577483 | | | | - | | |
NM_001370259.2(MEN1):c.99C>G (p.Asp33Glu) | 4221 | MEN1 | Uncertain significance | -1 | RCV003023285; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577483 | 64577483 | | | NC_000011.9:g.64577483G>C | - | | |
NM_001370259.2(MEN1):c.96G>A (p.Pro32=) | 4221 | MEN1 | Likely benign | 1268807885 | RCV001470858; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577486 | 64577486 | | | 64577486 | - | | |
NM_001370259.2(MEN1):c.95C>T (p.Pro32Leu) | 4221 | MEN1 | Uncertain significance | 2136194414 | RCV001930980|RCV002386734; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577487 | 64577487 | | | 64577487 | - | | |
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | -1 | RCV002385283|RCV003094838; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577487 | 64577487 | | | 64577487 | - | | |
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 773089218 | RCV000463945|RCV000562829|RCV003329276; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64577488 | 64577488 | | | NC_000011.9:g.64577488G>A | ClinGen:CA061878 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val) | 4221 | MEN1 | Uncertain significance | 1060499977 | RCV000458419|RCV001019129; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577490 | 64577490 | | | NC_000011.9:g.64577490T>A | ClinGen:CA16613698 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.92A>G (p.Glu31Gly) | 4221 | MEN1 | Uncertain significance | 1060499977 | RCV000632084; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577490 | 64577490 | | | 11:g.64577490T>C | ClinGen:CA381188001 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.91G>A (p.Glu31Lys) | 4221 | MEN1 | Uncertain significance | 1942017514 | RCV001238297; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577491 | 64577491 | | | 11:g.64577491C>T | - | | |
NM_001370259.2(MEN1):c.89A>G (p.Glu30Gly) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1942017685 | RCV001294396|RCV002375337; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577493 | 64577493 | | | 64577493 | - | | |
NM_001370259.2(MEN1):c.88G>A (p.Glu30Lys) | 4221 | MEN1 | Uncertain significance | 2136194576 | RCV002041388|RCV003299031; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577494 | 64577494 | | | 64577494 | - | | |
NM_001370259.2(MEN1):c.87A>C (p.Arg29=) | 4221 | MEN1 | Likely benign | 1198070818 | RCV000632158|RCV003162807; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577495 | 64577495 | | | NC_000011.9:g.64577495T>G | ClinGen:CA475163090 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter) | 4221 | MEN1 | Pathogenic | 794728615 | RCV000474533|RCV000491222; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577497 | 64577497 | | | NC_000011.9:g.64577497G>A | ClinGen:CA009645 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.85C>G (p.Arg29Gly) | 4221 | MEN1 | Uncertain significance | 794728615 | RCV001303630|RCV002447301; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577497 | 64577497 | | | 64577497 | - | | |
NM_001370259.2(MEN1):c.85C>A (p.Arg29=) | 4221 | MEN1 | Likely benign | 794728615 | RCV002168427; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577497 | 64577497 | | | 64577497 | - | | |
NM_001370259.2(MEN1):c.84C>T (p.Gly28=) | 4221 | MEN1 | Likely benign | 2136194730 | RCV002196156; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577498 | 64577498 | | | 64577498 | - | | |
NM_001370259.2(MEN1):c.82_83delinsAA (p.Gly28Asn) | 4221 | MEN1 | Uncertain significance | -1 | RCV003011805; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577499 | 64577500 | | | NC_000011.9:g.64577499_64577500delinsTT | - | | |
NM_001370259.2(MEN1):c.82G>A (p.Gly28Ser) | 4221 | MEN1 | Uncertain significance | 953827589 | RCV001054889|RCV003160439; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577500 | 64577500 | | | 11:g.64577500C>T | - | | |
NM_001370259.2(MEN1):c.82G>C (p.Gly28Arg) | 4221 | MEN1 | Uncertain significance | 953827589 | RCV001327130|RCV002431933; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577500 | 64577500 | | | 64577500 | - | | |
NM_001370259.2(MEN1):c.81G>C (p.Leu27=) | 4221 | MEN1 | Likely benign | 1592660553 | RCV002064804|RCV002427205; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577501 | 64577501 | | | 11:g.64577501C>G | - | | |
NM_001370259.2(MEN1):c.81G>T (p.Leu27=) | 4221 | MEN1 | Likely benign | -1 | RCV002867218; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577501 | 64577501 | | | | - | | |
NM_001370259.2(MEN1):c.79C>T (p.Leu27=) | 4221 | MEN1 | Likely benign | 1006536599 | RCV001429118|RCV002416068; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577503 | 64577503 | | | 11:g.64577503G>A | - | | |
NM_001370259.2(MEN1):c.79C>G (p.Leu27Val) | 4221 | MEN1 | Uncertain significance | 1006536599 | RCV001039845; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577503 | 64577503 | | | 11:g.64577503G>C | - | | |
NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 28931612 | RCV000018169|RCV000490040|RCV000817082; | N | MedGen:C2675664|MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577506 | 64577506 | | | NC_000011.9:g.64577506C>T | ClinGen:CA009584,UniProtKB:O00255#VAR_005427,OMIM:613733.0013 | CN517202 not provided; | |
NM_001370259.2(MEN1):c.75C>T (p.Ala25=) | 4221 | MEN1 | Likely benign | 1399788808 | RCV001446786|RCV002396032; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577507 | 64577507 | | | 64577507 | - | | |
NM_001370259.2(MEN1):c.74C>T (p.Ala25Val) | 4221 | MEN1 | Uncertain significance | 1462138625 | RCV000707173; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577508 | 64577508 | | | NC_000011.9:g.64577508G>A | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.71C>T (p.Ala24Val) | 4221 | MEN1 | Uncertain significance | 1328062930 | RCV000632091|RCV002377360; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577511 | 64577511 | | | NC_000011.9:g.64577511G>A | ClinGen:CA381188076 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 104894256 | RCV000018157|RCV000182402; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202 | 11 | 64577517 | 64577517 | | | 11:g.64577517A>C | ClinGen:CA009546,UniProtKB:O00255#VAR_005426,OMIM:613733.0001 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.65T>C (p.Leu22Pro) | 4221 | MEN1 | Uncertain significance | 104894256 | RCV001055011; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577517 | 64577517 | | | 11:g.64577517A>G | - | | |
NM_001370259.2(MEN1):c.64C>T (p.Leu22=) | 4221 | MEN1 | Likely benign | 1592660695 | RCV001477371; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577518 | 64577518 | | | 11:g.64577518G>A | - | | |
NM_001370259.2(MEN1):c.63C>T (p.Arg21=) | 4221 | MEN1 | Likely benign | 1018289242 | RCV001025224|RCV001471473; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577519 | 64577519 | | | 11:g.64577519G>A | - | | |
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 541476418 | RCV000396094|RCV000563926|RCV000864930|RCV001770241; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900 | 11 | 64577521 | 64577521 | | | 11:g.64577521G>T | ClinGen:CA061326 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.61C>G (p.Arg21Gly) | 4221 | MEN1 | Uncertain significance | 541476418 | RCV000477155; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577521 | 64577521 | | | NC_000011.9:g.64577521G>C | ClinGen:CA16613641 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.61C>T (p.Arg21Cys) | 4221 | MEN1 | Uncertain significance | 541476418 | RCV001302367; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577521 | 64577521 | | | 64577521 | - | | |
NM_001370259.2(MEN1):c.60G>C (p.Val20=) | 4221 | MEN1 | Likely benign | 776432516 | RCV000244620|RCV000470194|RCV002356342; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577522 | 64577522 | | | NC_000011.9:g.64577522C>G | ClinGen:CA10587133 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.60G>A (p.Val20=) | 4221 | MEN1 | Likely benign | -1 | RCV002715192; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577522 | 64577522 | | | | - | | |
NM_001370259.2(MEN1):c.58G>T (p.Val20Leu) | 4221 | MEN1 | Uncertain significance | 1942022491 | RCV001207909; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577524 | 64577524 | | | 11:g.64577524C>A | - | | |
NM_001370259.2(MEN1):c.57G>A (p.Val19=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 759282395 | RCV001248632|RCV002357056; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577525 | 64577525 | | | 11:g.64577525C>T | - | | |
NM_001370259.2(MEN1):c.54C>T (p.Asp18=) | 4221 | MEN1 | Likely benign | 1316973259 | RCV000532778; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577528 | 64577528 | | | NC_000011.9:g.64577528G>A | ClinGen:CA475163211 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.52G>T (p.Asp18Tyr) | 4221 | MEN1 | Uncertain significance | 2136195598 | RCV001926002; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577530 | 64577530 | | | 64577530 | - | | |
NM_001370259.2(MEN1):c.51C>T (p.Asp17=) | 4221 | MEN1 | Likely benign | 2136195633 | RCV001473459; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577531 | 64577531 | | | 64577531 | - | | |
NM_001370259.2(MEN1):c.50A>G (p.Asp17Gly) | 4221 | MEN1 | Uncertain significance | 1157581823 | RCV001224295|RCV003380903; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577532 | 64577532 | | | 11:g.64577532T>C | - | | |
NM_001370259.2(MEN1):c.49G>A (p.Asp17Asn) | 4221 | MEN1 | Uncertain significance | 1399824473 | RCV000632125|RCV001023389; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577533 | 64577533 | | | NC_000011.9:g.64577533C>T | ClinGen:CA381188174 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.48C>T (p.Ile16=) | 4221 | MEN1 | Likely benign | 1060503797 | RCV001504106|RCV003278821; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577534 | 64577534 | | | NC_000011.9:g.64577534G>A | ClinGen:CA16613487 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys) | 4221 | MEN1 | Uncertain significance | 1056705868 | RCV001022586|RCV003467666; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577538 | 64577538 | | | 11:g.64577538G>C | - | | |
NM_001370259.2(MEN1):c.44C>T (p.Ser15Phe) | 4221 | MEN1 | Uncertain significance | 1056705868 | RCV001043539; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577538 | 64577538 | | | 11:g.64577538G>A | - | | |
NM_001370259.2(MEN1):c.42C>G (p.Arg14=) | 4221 | MEN1 | Likely benign | 765446407 | RCV001416376; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577540 | 64577540 | | | 64577540 | - | | |
NM_001370259.2(MEN1):c.41_42delinsT (p.Arg14fs) | 4221 | MEN1 | Pathogenic | -1 | RCV003033376; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577540 | 64577541 | | | NC_000011.9:g.64577540_64577541delinsA | - | | |
NM_001370259.2(MEN1):c.40C>T (p.Arg14Cys) | 4221 | MEN1 | Uncertain significance | 1209178117 | RCV000797298|RCV002325521; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577542 | 64577542 | | | 11:g.64577542G>A | - | | |
NM_001370259.2(MEN1):c.38T>G (p.Leu13Arg) | 4221 | MEN1 | Uncertain significance | 1262285748 | RCV000694774; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577544 | 64577544 | | | NC_000011.9:g.64577544A>C | - | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.38T>C (p.Leu13Pro) | 4221 | MEN1 | Uncertain significance | 1262285748 | RCV000803145; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577544 | 64577544 | | | 11:g.64577544A>G | - | | |
NM_001370259.2(MEN1):c.36G>T (p.Pro12=) | 4221 | MEN1 | Likely benign | 775721366 | RCV000978248|RCV003307773; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577546 | 64577546 | | | 11:g.64577546C>A | - | | |
NM_001370259.2(MEN1):c.36G>A (p.Pro12=) | 4221 | MEN1 | Likely benign | 775721366 | RCV001481253|RCV002350983; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577546 | 64577546 | | | 64577546 | - | | |
NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu) | 4221 | MEN1 | Likely pathogenic | 794728614 | RCV000538512; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577547 | 64577547 | | | NC_000011.9:g.64577547G>A | ClinGen:CA009390,UniProtKB:O00255#VAR_005425 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.33C>G (p.Phe11Leu) | 4221 | MEN1 | Uncertain significance | -1 | RCV002452020|RCV003099455; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577549 | 64577549 | | | 64577549 | - | | |
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 371192390 | RCV000123385|RCV000491878|RCV000609004|RCV000757460|RCV001108653; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 | 11 | 64577552 | 64577552 | | | NC_000011.9:g.64577552C>A | ClinGen:CA009365 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.29T>G (p.Leu10Arg) | 4221 | MEN1 | Uncertain significance | 1942026011 | RCV001227378|RCV003294087; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577553 | 64577553 | | | 11:g.64577553A>C | - | | |
NM_001370259.2(MEN1):c.29T>C (p.Leu10Pro) | 4221 | MEN1 | Uncertain significance | -1 | RCV003049771; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577553 | 64577553 | | | NC_000011.9:g.64577553A>G | - | | |
NM_001370259.2(MEN1):c.28C>T (p.Leu10=) | 4221 | MEN1 | Likely benign | 2136196333 | RCV002216387; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577554 | 64577554 | | | 64577554 | - | | |
NM_001370259.2(MEN1):c.27G>A (p.Thr9=) | 4221 | MEN1 | Likely benign | 1190267704 | RCV001417881|RCV002438973; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577555 | 64577555 | | | 64577555 | - | | |
NM_001370259.2(MEN1):c.24G>A (p.Lys8=) | 4221 | MEN1 | Likely benign | 2136196440 | RCV002159841; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577558 | 64577558 | | | 64577558 | - | | |
NC_000011.9:g.(?_64577559)_(64578852_?)del | 4221 | MEN1 | Pathogenic | -1 | RCV003123030; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577559 | 64578852 | | | | - | | |
NM_001370259.2(MEN1):c.22A>G (p.Lys8Glu) | 4221 | MEN1 | Uncertain significance | 1942026565 | RCV001210328; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577560 | 64577560 | | | 11:g.64577560T>C | - | | |
NM_001370259.2(MEN1):c.21G>A (p.Gln7=) | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 1422628649 | RCV000864258|RCV001014748; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577561 | 64577561 | | | 11:g.64577561C>T | - | | |
NM_001370259.2(MEN1):c.18C>T (p.Ala6=) | 4221 | MEN1 | Benign/Likely benign | 369348210 | RCV000195439|RCV000565891|RCV001705156; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 11 | 64577564 | 64577564 | | | NC_000011.9:g.64577564G>A | ClinGen:CA060984 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs) | 4221 | MEN1 | Pathogenic | 1114167523 | RCV000491928|RCV001229975; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577565 | 64577566 | | | NC_000011.9:g.64577566_64577567del | ClinGen:CA645369576 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.17C>T (p.Ala6Val) | 4221 | MEN1 | Uncertain significance | -1 | RCV002627781; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577565 | 64577565 | | | NC_000011.9:g.64577565G>A | - | | |
NM_001370259.2(MEN1):c.16G>T (p.Ala6Ser) | 4221 | MEN1 | Uncertain significance | 966793401 | RCV000565141|RCV000632111; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577566 | 64577566 | | | 11:g.64577566C>A | ClinGen:CA223917347 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.16G>A (p.Ala6Thr) | 4221 | MEN1 | Uncertain significance | 966793401 | RCV001012794|RCV001222652; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577566 | 64577566 | | | 11:g.64577566C>T | - | | |
NM_001370259.2(MEN1):c.15C>A (p.Ala5=) | 4221 | MEN1 | Likely benign | 757821521 | RCV000473276|RCV001012305; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577567 | 64577567 | | | NC_000011.9:g.64577567G>T | ClinGen:CA16613493 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.14C>G (p.Ala5Gly) | 4221 | MEN1 | Uncertain significance | 2136196896 | RCV002037474; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577568 | 64577568 | | | 64577568 | - | | |
NM_001370259.2(MEN1):c.11A>C (p.Lys4Thr) | 4221 | MEN1 | Uncertain significance | 1592661250 | RCV000793073|RCV003307425; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577571 | 64577571 | | | 11:g.64577571T>G | - | | |
NM_001370259.2(MEN1):c.6dup (p.Leu3fs) | 4221 | MEN1 | Pathogenic | 2136197117 | RCV001383274; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577575 | 64577576 | | | 64577575 | - | | |
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer) | 4221 | MEN1 | Pathogenic | 2136197117 | RCV001939358|RCV002361298; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577576 | 64577576 | | | 64577575 | - | | |
NM_001370259.2(MEN1):c.5G>A (p.Gly2Glu) | 4221 | MEN1 | Uncertain significance | 1592661296 | RCV000800118; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577577 | 64577577 | | | 11:g.64577577C>T | - | | |
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 786204242 | RCV000168423|RCV001556584|RCV002372056; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577579 | 64577579 | | | NC_000011.9:g.64577579C>T | ClinGen:CA009394 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.2T>A (p.Met1Lys) | 4221 | MEN1 | Pathogenic | -1 | RCV003058328; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577580 | 64577580 | | | NC_000011.9:g.64577580A>T | - | | |
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) | 4221 | MEN1 | Pathogenic/Likely pathogenic | 386134250 | RCV000030198|RCV000480514|RCV000491918|RCV000508430; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 11 | 64577581 | 64577581 | | | NC_000011.9:g.64577581T>C | ClinGen:CA009318 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu) | 4221 | MEN1 | Pathogenic | 386134250 | RCV000491567|RCV000536890; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577581 | 64577581 | | | NC_000011.9:g.64577581T>A | ClinGen:CA381188344 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu) | 4221 | MEN1 | Pathogenic | 386134250 | RCV001055158|RCV003380824; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577581 | 64577581 | | | 11:g.64577581T>G | - | | |
NM_001370259.2(MEN1):c.-2C>T | 4221 | MEN1 | Uncertain significance | 653534 | RCV000206434|RCV002433902; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577583 | 64577583 | | | NC_000011.9:g.64577583G>A | ClinGen:CA350468 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.-6G>A | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 768088337 | RCV001334472|RCV001796447|RCV001820028|RCV002368113; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577587 | 64577587 | | | 64577587 | - | | |
NM_001370259.2(MEN1):c.-20G>A | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 386134244 | RCV000030190|RCV000480991|RCV002415435; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577601 | 64577601 | | | 11:g.64577601C>T | ClinGen:CA009331 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.-22C>A | 4221 | MEN1 | Conflicting interpretations of pathogenicity | 374749001 | RCV000225942|RCV000454537|RCV000679245|RCV002258863; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 11 | 64577603 | 64577603 | | | 11:g.64577603G>T | ClinGen:CA061014 | C0025267 131100 Multiple endocrine neoplasia, type 1; | |
NM_001370259.2(MEN1):c.-23-135G>A | 4221 | MEN1 | Uncertain significance | 587777949 | RCV000122413|RCV001294052; | N | MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577739 | 64577739 | | | 11:g.64577739C>T | ClinGen:CA009341 | CN169374 not specified; | |
NM_001370259.2(MEN1):c.-24+84C>G | 4221 | MEN1 | Likely benign | 568093485 | RCV000988575; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64577902 | 64577902 | | | 11:g.64577902G>C | - | | |
NM_000244.4(MEN1):c.-35A>T | 4221 | MEN1 | Benign | 679946 | RCV000314220|RCV000368660|RCV000417914; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64578113 | 64578113 | | | 11:g.64578113T>A | ClinGen:CA10635266 | C0020502 Hyperparathyroidism; | |
NM_000244.4(MEN1):c.-35A>C | 4221 | MEN1 | Benign | 679946 | RCV000274018|RCV000310348|RCV000426448; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374 | 11 | 64578113 | 64578113 | | | 11:g.64578113T>G | ClinGen:CA10639645 | C0020502 Hyperparathyroidism; | |
NM_000244.4(MEN1):c.-47A>G | 4221 | MEN1 | Likely benign | 1035192873 | RCV000988576; | N | MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64578125 | 64578125 | | | 11:g.64578125T>C | - | | |
NM_130799.2(MEN1):c.-94G>A | 4221 | MEN1 | Uncertain significance | 886048480 | RCV000270673|RCV000364998; | N | Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 11 | 64578172 | 64578172 | | | 11:g.64578172C>T | ClinGen:CA10639646 | C0020502 Hyperparathyroidism; | |
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) | 5979 | RET | Pathogenic | 77939446 | RCV000014958|RCV000082049|RCV000173889|RCV000168107|RCV000424503|RCV000444552|RCV000431942|RCV000441078|RCV000496009|RCV000509116|RCV000562113|RCV003415703|RCV003460480; | N | MedGen:C4016286|MedGen:C3661900|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MO | 10 | 43609070 | 43609070 | | | 10:g.43609070G>A | ClinGen:CA007824,UniProtKB:P07949#VAR_006306,OMIM:164761.0029 | C1833921 155240 Familial medullary thyroid carcinoma; | |
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) | 5979 | RET | Pathogenic | 377767404 | RCV000418588|RCV000429498|RCV000428845|RCV000440788|RCV000436253|RCV000654593; | N | MONDO:MONDO:0012552,MedGen:C1970712,OMIM:610755, Orphanet:276152|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653|Human Phenotype Ontology: | 10 | 43609936 | 43609936 | | | 10:g.43609936T>C | ClinGen:CA008145 | C0238462 Medullary thyroid carcinoma; | |
NM_020975.6(RET):c.2410G>C (p.Val804Leu) | 5979 | RET | Pathogenic | 79658334 | RCV000021853|RCV000419916|RCV000426266|RCV000425568|RCV000436948|RCV000437130|RCV000479688|RCV002453279|RCV003226171; | N | MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653|MONDO:MONDO:0008082,MeSH:D018814,MedGen: | 10 | 43614996 | 43614996 | | | 10:g.43614996G>C | UniProtKB:P07949#VAR_006336,ClinGen:CA008758 | C0238462 Medullary thyroid carcinoma; | |
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) | 5979 | RET | Pathogenic/Likely pathogenic | 377767429 | RCV000021873|RCV000426500|RCV000422001|RCV000433892|RCV000445104|RCV002514127|RCV003298037; | N | MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0002865,MONDO:MONDO:0015277,MeSH:C536914,MedGen:C0238462,Orph | 10 | 43615568 | 43615569 | | | NC_000010.10:g.43615568_43615569delinsTT | ClinGen:CA008962 | C0238462 Medullary thyroid carcinoma; | |
NM_000455.5(STK11):c.749C>T (p.Thr250Met) | 6794 | STK11 | Uncertain significance | 876661238 | RCV000219622|RCV001184310|RCV001808582|RCV003328099; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008280,MeSH:D010580,MedGen:C0031269,OMIM:175200, Orphanet:2869|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652 | 19 | 1221226 | 1221226 | | | NC_000019.9:g.1221226C>T | ClinGen:CA10577596 | CN169374 not specified; | |