Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001844.4(COL2A1):c.2974A>G (p.Arg992Gly) | 1280 | COL2A1 | Pathogenic | 121912895 | RCV000018941; | N | MedGen:C0700635,OMIM:184250,ORPHA:93346 | 12 | 48372103 | 48372103 | NM_001844.4:c.2974A>G | NP_001835.3:p.Arg992Gly | NC_000012.11:g.48372103T>C | OMIM Allelic Variant:120140.0047 | C0700635 184250 Spondyloepimetaphyseal dysplasia Strudwick type | | |
NM_001844.4(COL2A1):c.2725G>T (p.Gly909Cys) | 1280 | COL2A1 | Pathogenic | 121912875 | RCV000018911; | N | MedGen:C0700635,OMIM:184250,ORPHA:93346 | 12 | 48373302 | 48373302 | NM_001844.4:c.2725G>T | NP_001835.3:p.Gly909Cys | NC_000012.11:g.48373302C>A | OMIM Allelic Variant:120140.0017 | C0700635 184250 Spondyloepimetaphyseal dysplasia Strudwick type | | |
NM_001844.4(COL2A1):c.1510G>T (p.Gly504Cys) | 1280 | COL2A1 | Pathogenic | 121912880 | RCV000018920; | N | MedGen:C0700635,OMIM:184250,ORPHA:93346 | 12 | 48380136 | 48380136 | NM_001844.4:c.1510G>T | NP_001835.3:p.Gly504Cys | NC_000012.11:g.48380136C>A,NC_000012.11:g.48380136C>T | OMIM Allelic Variant:120140.0027 | C0700635 184250 Spondyloepimetaphyseal dysplasia Strudwick type | | |
NM_001844.4(COL2A1):c.1510G>A (p.Gly504Ser) | 1280 | COL2A1 | Pathogenic | 121912880 | RCV000176384; RCV000176385; | N | MedGen:C0038015,OMIM:183900,ORPHA:253; MedGen:C0700635,OMIM:184250,ORPHA:93346 | 12 | 48380136 | 48380136 | NM_001844.4:c.1510G>A | NP_001835.3:p.Gly504Ser | NC_000012.11:g.48380136C>A,NC_000012.11:g.48380136C>T | - | C0700635 184250 Spondyloepimetaphyseal dysplasia Strudwick type; C0038015 183900 Spondyloepiphyseal dysplasia congenita | | |
NM_001844.4(COL2A1):c.1475G>T (p.Gly492Val) | 1280 | COL2A1 | Pathogenic | 121912881 | RCV000018921; | N | MedGen:C0700635,OMIM:184250,ORPHA:93346 | 12 | 48380171 | 48380171 | NM_001844.4:c.1475G>T | NP_001835.3:p.Gly492Val | NC_000012.11:g.48380171C>A | OMIM Allelic Variant:120140.0028 | C0700635 184250 Spondyloepimetaphyseal dysplasia Strudwick type | | |
NM_001844.4(COL2A1):c.1060G>A (p.Gly354Arg) | 1280 | COL2A1 | Pathogenic | 121912871 | RCV000018907; | N | MedGen:C0700635,OMIM:184250,ORPHA:93346 | 12 | 48383552 | 48383552 | NM_001844.4:c.1060G>A | NP_001835.3:p.Gly354Arg | NC_000012.11:g.48383552C>T | OMIM Allelic Variant:120140.0013 | C0700635 184250 Spondyloepimetaphyseal dysplasia Strudwick type | | |