Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000660.5(TGFB1):c.673T>C (p.Cys225Arg) | 7040 | TGFB1 | Pathogenic | 104894719 | RCV000013354; | N | MedGen:C0011989,OMIM:131300,ORPHA:1328,SNOMED CT:34643004 | 19 | 41848114 | 41848114 | NM_000660.5:c.673T>C | NP_000651.3:p.Cys225Arg | NC_000019.9:g.41848114A>G | OMIM Allelic Variant:190180.0001 | C0011989 131300 Diaphyseal dysplasia | | |
NM_000660.5(TGFB1):c.667T>G (p.Cys223Gly) | 7040 | TGFB1 | Pathogenic | 104894722 | RCV000013356; | N | MedGen:C0011989,OMIM:131300,ORPHA:1328,SNOMED CT:34643004 | 19 | 41848120 | 41848120 | NM_000660.5:c.667T>G | NP_000651.3:p.Cys223Gly | NC_000019.9:g.41848120A>C,NC_000019.9:g.41848120A>G | OMIM Allelic Variant:190180.0006 | C0011989 131300 Diaphyseal dysplasia | | |
NM_000660.5(TGFB1):c.667T>C (p.Cys223Arg) | 7040 | TGFB1 | Pathogenic | 104894722 | RCV000013359; | N | MedGen:C0011989,OMIM:131300,ORPHA:1328,SNOMED CT:34643004 | 19 | 41848120 | 41848120 | NM_000660.5:c.667T>C | NP_000651.3:p.Cys223Arg | NC_000019.9:g.41848120A>C,NC_000019.9:g.41848120A>G | OMIM Allelic Variant:190180.0005 | C0011989 131300 Diaphyseal dysplasia | | |
NM_000660.5(TGFB1):c.653G>A (p.Arg218His) | 7040 | TGFB1 | Pathogenic | 104894720 | RCV000013355; | N | MedGen:C0011989,OMIM:131300,ORPHA:1328,SNOMED CT:34643004 | 19 | 41848134 | 41848134 | NM_000660.5:c.653G>A | NP_000651.3:p.Arg218His | NC_000019.9:g.41848134C>T | OMIM Allelic Variant:190180.0002 | C0011989 131300 Diaphyseal dysplasia | | |
NM_000660.5(TGFB1):c.652C>T (p.Arg218Cys) | 7040 | TGFB1 | Pathogenic | 104894721 | RCV000013357; | N | MedGen:C0011989,OMIM:131300,ORPHA:1328,SNOMED CT:34643004 | 19 | 41848135 | 41848135 | NM_000660.5:c.652C>T | NP_000651.3:p.Arg218Cys | NC_000019.9:g.41848135G>A | OMIM Allelic Variant:190180.0003 | C0011989 131300 Diaphyseal dysplasia | | |
NM_000660.5(TGFB1):c.241T>C (p.Tyr81His) | 7040 | TGFB1 | Pathogenic | 111033611 | RCV000013358; | N | MedGen:C0011989,OMIM:131300,ORPHA:1328,SNOMED CT:34643004 | 19 | 41858709 | 41858709 | NM_000660.5:c.241T>C | NP_000651.3:p.Tyr81His | NC_000019.9:g.41858709A>G | OMIM Allelic Variant:190180.0004 | C0011989 131300 Diaphyseal dysplasia | | |
NM_000660.5(TGFB1):c.29C>T (p.Pro10Leu) | 7040 | TGFB1 | Benign;risk factor | 1800470 | RCV000013360; RCV000032141; RCV000013361; | N | ; MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0011989,OMIM:131300,ORPHA:1328,SNOMED CT:34643004 | 19 | 41858921 | 41858921 | NM_000660.5:c.29C>T | NP_000651.3:p.Pro10Leu | NC_000019.9:g.41858921G>A | OMIM Allelic Variant:190180.0007 | C0010674 219700 Cystic fibrosis; C0011989 131300 Diaphyseal dysplasia | | |