Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000095.2(COMP):c.2223dupC (p.Asn742Glnfs) | 1311 | COMP | Pathogenic | 869320730 | RCV000009775; | N | MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18893868 | 18893868 | NM_000095.2:c.2223dupC | NP_000086.2:p.Asn742Glnfs | NC_000019.9:g.18893868dupG | OMIM Allelic Variant:600310.0016 | C1838280 132400 Multiple epiphyseal dysplasia 1 | | |
NM_000095.2(COMP):c.2153G>C (p.Arg718Pro) | 1311 | COMP | Pathogenic | 149551600 | RCV000055755; | N | MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18893938 | 18893938 | NM_000095.2:c.2153G>C | NP_000086.2:p.Arg718Pro | NC_000019.9:g.18893938C>G | - | C1838280 132400 Multiple epiphyseal dysplasia 1 | | |
NM_000095.2(COMP):c.2152C>T (p.Arg718Trp) | 1311 | COMP | Pathogenic | 28936368 | RCV000009776; | N | MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18893939 | 18893939 | NM_000095.2:c.2152C>T | NP_000086.2:p.Arg718Trp | NC_000019.9:g.18893939G>A | OMIM Allelic Variant:600310.0017 | C1838280 132400 Multiple epiphyseal dysplasia 1 | | |
NM_000095.2(COMP):c.2042C>G (p.Ser681Cys) | 1311 | COMP | Pathogenic | 397515513 | RCV000055754; | N | MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18895046 | 18895046 | NM_000095.2:c.2042C>G | NP_000086.2:p.Ser681Cys | NC_000019.9:g.18895046G>C | - | C1838280 132400 Multiple epiphyseal dysplasia 1 | | |
NM_000095.2(COMP):c.1813G>A (p.Asp605Asn) | 1311 | COMP | Pathogenic | 397515512 | RCV000055753; | N | MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18895807 | 18895807 | NM_000095.2:c.1813G>A | NP_000086.2:p.Asp605Asn | NC_000019.9:g.18895807C>T | - | C1838280 132400 Multiple epiphyseal dysplasia 1 | | |
NM_000095.2(COMP):c.1754C>G (p.Thr585Arg) | 1311 | COMP | Pathogenic | 312262900 | RCV000033886; RCV000055751; | N | MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005; MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18895866 | 18895866 | NM_000095.2:c.1754C>G | NP_000086.2:p.Thr585Arg | NC_000019.9:g.18895866G>A,NC_000019.9:g.18895866G>C,NC_000019.9:g.18895866G>T | - | C1838280 132400 Multiple epiphyseal dysplasia 1; C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | | |
NM_000095.2(COMP):c.1754C>T (p.Thr585Met) | 1311 | COMP | Pathogenic | 312262900 | RCV000033887; RCV000055752; | N | MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005; MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18895866 | 18895866 | NM_000095.2:c.1754C>T | NP_000086.2:p.Thr585Met | NC_000019.9:g.18895866G>A,NC_000019.9:g.18895866G>C,NC_000019.9:g.18895866G>T | - | C1838280 132400 Multiple epiphyseal dysplasia 1; C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | | |
NM_000095.2(COMP):c.1665C>A (p.Asn555Lys) | 1311 | COMP | Pathogenic | 397515511 | RCV000055750; | N | MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18896486 | 18896486 | NM_000095.2:c.1665C>A | NP_000086.2:p.Asn555Lys | NC_000019.9:g.18896486G>T | - | C1838280 132400 Multiple epiphyseal dysplasia 1 | | |
NM_000095.2(COMP):c.1569C>G (p.Asn523Lys) | 1311 | COMP | Pathogenic | 137852654 | RCV000009767; | N | MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18896582 | 18896582 | NM_000095.2:c.1569C>G | NP_000086.2:p.Asn523Lys | NC_000019.9:g.18896582G>C | OMIM Allelic Variant:600310.0008 | C1838280 132400 Multiple epiphyseal dysplasia 1 | | |
NM_000095.2(COMP):c.1417_1419dupGAC (p.Asp473_Asn474insAsp) | 1311 | COMP | Pathogenic | 312262898 | RCV000033881; RCV000009771; | N | MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005; MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18896845 | 18896847 | NM_000095.2:c.1417_1419dupGAC | NP_000086.2:p.Asp473_Asn474insAsp | NC_000019.9:g.18896845_18896847dupGTC | OMIM Allelic Variant:600310.0012 | C1838280 132400 Multiple epiphyseal dysplasia 1; C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | | |
NM_000095.2(COMP):c.1156_1158delAAC (p.Asn386del) | 1311 | COMP | Pathogenic | 397515510 | RCV000055748; | N | MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18897438 | 18897440 | NM_000095.2:c.1156_1158delAAC | NP_000086.2:p.Asn386del | NC_000019.9:g.18897438_18897440delGTT | - | C1838280 132400 Multiple epiphyseal dysplasia 1 | | |
NM_000095.2(COMP):c.1156A>G (p.Asn386Asp) | 1311 | COMP | Benign | 61739916 | RCV000033879; RCV000055747; | N | MedGen:C0410538,OMIM:177170,ORPHA:750,SNOMED CT:22567005; MedGen:C1838280,OMIM:132400,ORPHA:93308 | 19 | 18897440 | 18897440 | NM_000095.2:c.1156A>G | NP_000086.2:p.Asn386Asp | NC_000019.9:g.18897440T>C | - | C1838280 132400 Multiple epiphyseal dysplasia 1; C0410538 177170 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | | |