Gene | WT* | Variant | HGMD ID | HGMD pathogenicity | ClinVar descriptor | GRCh37 position and variation | ClinVar variation ID | ClinVar assertion | PMID |
NAA10 | AATAGA | ChrX:153195397T>C | |||||||
NAA10 | GATAAA | ChrX:153195401T>C | |||||||
NAA10 | AGTAAA | ChrX:153195400T>C | |||||||
BMP1 | AGTAAA | AGCAAA | CR150372 | DM | NM_001199.3(BMP1):c.*241T>C | Chr8:22058957T>C | 190 231 | Pathogenic | 25214535 |
F9 | AATGAA | CR005437 | DM | ChrX:138645598A>G | 11013449 | ||||
FOXP3 | AATGAA | CR014834 | DM | ChrX:49106919T>C | 11685453 | ||||
FOXP3 | AATAAG | CR097218 | DM | ChrX:49106917T>C | 19471859 | ||||
GLA | ATTAAAag | ATTAAG | CD031841 | DM | ChrX:100652809-100652810del | 12796853 | |||
HBA2 | AATAAG | CR830007 | DM | Chr16:223693A>G | 6646217 | ||||
HBA2 | AATGAA | CR920785 | DM | NM_000517.4(HBA2):c.*92A>G | Chr16:223691A>G | 15 647 | Pathogenic/Likely Pathogenic | 1581238 | |
HBA2 | AATAAC | CR106042 | DM | Chr16:223693A>C | 19912309 | ||||
HBA2 | AATAAAgt | AATAGT | CD941949 | DM | Chr16:223692-223693del | 7803252 | |||
HBB | AAAAAA | CR045224 | DM | Chr11:5246718A>T | 15481893 | ||||
HBB | AAGAAA | CR014260 | DM | Chr11:5246718A>C | 11300343 | ||||
HBB | AATATA | CR057232 | DM | Chr11:5246716T>A | 15820953 | ||||
HBB | AACAAA | CR850010 | DM | NM_000518.4(HBB):c.*110T>C | Chr11:5246718A>G | 36 332 | Pathogenic | 4018033 | |
HBB | AATAAG | CR880076 | DM | NM_000518.4(HBB):c.*113A>G | Chr11:5246715T>C | 15 473 | Pathogenic | 048433 | |
HBB | AATGAA | CR900265 | DM | NM_000518.4(HBB):c.*111A>G | Chr11:5246717T>C | 15 488 | Pathogenic | 2375910 | |
HBB | AATAGA | CR900266 | DM | NM_000518.4(HBB):c.*112A>G | Chr11:5246716T>C | 15 476 | Pathogenic | 2375910 | |
HBB | CATAAA | CR016252 | DM | Chr11:5246720T>G | 11722440 | ||||
HBB | GATAAA | CR127145 | DM | Chr11:5246720T>C | 22862814 | ||||
HBD | AATTAA | CR109506 | DM | Chr11:5254085T>A | |||||
IGF1 | AATATA | AAAATA | CR033689 | DM | Chr12:102796022A>T | ||||
IL2RG | AATAAG | CR0910465 | DM | ChrX:70327278T>C | 19841577 | ||||
INS | AATAAG | CR101141 | DM | NM_000207.2(INS):c.*59A>G | Chr11:2181023T>C | 65 581 | Pathogenic | 20133622 | |
ITGA2B | AACAAA | CR153724 | DM | Chr17:42449567A>G | 25728920 | ||||
ABCG2 | AATAAG | CR1718077 | DP | Chr4:89011437T>C | 28930109 | ||||
ARSA | AATAAC | AGTAAC | CR890137 | DP | NM_000487.5(ARSA):c.*96A>G | Chr22:51063477T>C | 3049 | Conflicting | 2574462 |
HES7 | AATAAG | CR1510755 | DM? | Chr17:8024333T>C | 25928698 | ||||
NAT1 | AAAAAA | CR1111021 | FP | Chr8:18080644A>T | 7585580 | ||||
PEX6 | AATAAAcaca | AACACA | CD1716837 | FP | Chr6:42931628-42931631del | 29220678 | |||
PTGFR | AATGAA | CR156013 | DFP | Chr1:79002589A>G | 25977569 | ||||
SLC6A4 | ATTAAC | AGTAAC | CR102248 | DFP | Chr17:28524804A>C | 19969287 | |||
TP53 | AATACA | CR118782 | DFP | Chr17:7571752T>G | 21946351 |
*Wild type is AATAAA unless otherwise specified. Underlined nucleotides are deleted, and the nucleotides given in lower case are shifted into the variant hexamer. Thymidine is specified instead of uracil, referencing the genomic sequence, rather than the mRNA.
HGMD, Human Gene Mutation Database; DM, disease causing mutation; DP, disease-associated polymorphism; DFP, disease-associated polymorphism with supporting functional evidence.