Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) | 59341 | TRPV4 | Pathogenic | 121912637 | RCV000005287; RCV000005288; RCV000202554; | N | MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001; MedGen:C0410528,SNOMED CT:105986008; MedGen:C3159322,OMIM:184095 | 12 | 110222183 | 110222183 | NM_021625.4:c.2396C>T | NP_067638.3:p.Pro799Leu | NC_000012.11:g.110222183G>A,NC_000012.11:g.110222183G>C | OMIM Allelic Variant:605427.0007 | C0265281 156530 Metatrophic dysplasia; C0410528 Skeletal dysplasia; C3159322 184095 Spondyloepiphyseal dysplasia Maroteaux type | | |
NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) | 59341 | TRPV4 | Pathogenic | 267607149 | RCV000005303; RCV000023424; RCV000005304; RCV000202566; | N | MedGen:C0027868,ORPHA:68381; MedGen:C0265280,OMIM:184252,ORPHA:93314; MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001; MedGen:C0410528,SNOMED CT:105986008; MedGen:C3159322,OMIM:184095 | 12 | 110222190 | 110222190 | NM_021625.4:c.2389G>A | NP_067638.3:p.Glu797Lys | NC_000012.11:g.110222190C>T | OMIM Allelic Variant:605427.0018 | C0265281 156530 Metatrophic dysplasia; C0027868 Neuromuscular Diseases; C0410528 Skeletal dysplasia; C3159322 184095 Spondyloepiphyseal dysplasia Maroteaux type; C0265280 184252 Spondylometaphyseal dysplasia, Kozlowski type | | |
NM_021625.4(TRPV4):c.1805A>G (p.Tyr602Cys) | 59341 | TRPV4 | Pathogenic | 267607150 | RCV000023425; RCV000202448; | N | MedGen:C0410528,SNOMED CT:105986008; MedGen:C3159322,OMIM:184095 | 12 | 110230476 | 110230476 | NM_021625.4:c.1805A>G | NP_067638.3:p.Tyr602Cys | NC_000012.11:g.110230476T>C | OMIM Allelic Variant:605427.0021 | C0410528 Skeletal dysplasia; C3159322 184095 Spondyloepiphyseal dysplasia Maroteaux type | | |
NM_021625.4(TRPV4):c.547G>A (p.Glu183Lys) | 59341 | TRPV4 | Pathogenic | 387906324 | RCV000005306; RCV000202438; | N | MedGen:C0410528,SNOMED CT:105986008; MedGen:C3159322,OMIM:184095 | 12 | 110246113 | 110246113 | NM_021625.4:c.547G>A | NP_067638.3:p.Glu183Lys | NC_000012.11:g.110246113C>T | OMIM Allelic Variant:605427.0020 | C0410528 Skeletal dysplasia; C3159322 184095 Spondyloepiphyseal dysplasia Maroteaux type | | |