Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000891.2(KCNJ2):c.514G>A (p.Asp172Asn) | 3759 | KCNJ2 | Pathogenic | 104894584 | RCV000009482; RCV000058318; | N | MedGen:C1865018,OMIM:609622; MedGen:C2348199, Orphanet:ORPHA51083 | 17 | 68171694 | 68171694 | NM_000891.2:c.514G>A | NP_000882.1:p.Asp172Asn | NC_000017.10:g.68171694G>A | OMIM Allelic Variant:600681.0010 | C2348199 short QT syndrome; C1865018 609622 Short QT syndrome 3 | | |
NM_000891.2(KCNJ2):c.1035C>T (p.His345=) | 3759 | KCNJ2 | Benign | 201747514 | RCV000195587; RCV000126417; | N | MedGen:C1563715,OMIM:170390,ORPHA:37553,SNOMED CT:422348008; MedGen:C1865018,OMIM:609622; MedGen:CN169374 | 17 | 68172215 | 68172215 | NM_000891.2:c.1035C>T | NP_000882.1:p.His345= | NC_000017.10:g.68172215C>T | - | C1563715 170390 Andersen Tawil syndrome; CN169374 not specified; C1865018 609622 Short QT syndrome 3 | | |
NM_000891.2(KCNJ2):c.1215C>T (p.Asp405=) | 3759 | KCNJ2 | Likely benign | 863224374 | RCV000198320; | N | MedGen:C1563715,OMIM:170390,ORPHA:37553,SNOMED CT:422348008; MedGen:C1865018,OMIM:609622 | 17 | 68172395 | 68172395 | NM_000891.2:c.1215C>T | NP_000882.1:p.Asp405= | NC_000017.10:g.68172395C>T | - | C1563715 170390 Andersen Tawil syndrome; C1865018 609622 Short QT syndrome 3 | | |