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.2396C>G (p.Pro799Arg) | 59341 | TRPV4 | Pathogenic | 121912637 | RCV000005300; RCV000202509; | N | MedGen:C0027868,ORPHA:68381; MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110222183 | 110222183 | NM_021625.4:c.2396C>G | NP_067638.3:p.Pro799Arg | NC_000012.11:g.110222183G>A,NC_000012.11:g.110222183G>C | OMIM Allelic Variant:605427.0015 | C0265281 156530 Metatrophic dysplasia; C0027868 Neuromuscular Diseases; C0410528 Skeletal dysplasia | | |
NM_021625.4(TRPV4):c.2395C>G (p.Pro799Ala) | 59341 | TRPV4 | Pathogenic | 267607147 | RCV000005298; | N | MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001 | 12 | 110222184 | 110222184 | NM_021625.4:c.2395C>G | NP_067638.3:p.Pro799Ala | NC_000012.11:g.110222184G>A,NC_000012.11:g.110222184G>C | OMIM Allelic Variant:605427.0013 | C0265281 156530 Metatrophic dysplasia | | |
NM_021625.4(TRPV4):c.2395C>T (p.Pro799Ser) | 59341 | TRPV4 | Pathogenic | 267607147 | RCV000005299; RCV000202484; | N | MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110222184 | 110222184 | NM_021625.4:c.2395C>T | NP_067638.3:p.Pro799Ser | NC_000012.11:g.110222184G>A,NC_000012.11:g.110222184G>C | OMIM Allelic Variant:605427.0014 | C0265281 156530 Metatrophic dysplasia; C0410528 Skeletal dysplasia | | |
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.2219C>T (p.Thr740Ile) | 59341 | TRPV4 | Pathogenic | 387906906 | RCV000023432; RCV000202544; | N | MedGen:C0027868,ORPHA:68381; MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110224632 | 110224632 | NM_021625.4:c.2219C>T | NP_067638.3:p.Thr740Ile | NC_000012.11:g.110224632G>A | OMIM Allelic Variant:605427.0028 | C0265281 156530 Metatrophic dysplasia; C0027868 Neuromuscular Diseases; C0410528 Skeletal dysplasia | | |
NM_021625.4(TRPV4):c.991A>T (p.Ile331Phe) | 59341 | TRPV4 | Pathogenic | 121912636 | RCV000005286; RCV000202518; | N | MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110236580 | 110236580 | NM_021625.4:c.991A>T | NP_067638.3:p.Ile331Phe | NC_000012.11:g.110236580T>A | OMIM Allelic Variant:605427.0006 | C0265281 156530 Metatrophic dysplasia; C0410528 Skeletal dysplasia | | |
NM_021625.4(TRPV4):c.826A>G (p.Lys276Glu) | 59341 | TRPV4 | Pathogenic | 387906907 | RCV000023433; RCV000202517; | N | MedGen:C0027868,ORPHA:68381; MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110238450 | 110238450 | NM_021625.4:c.826A>G | NP_067638.3:p.Lys276Glu | NC_000012.11:g.110238450T>C | OMIM Allelic Variant:605427.0029 | C0265281 156530 Metatrophic dysplasia; C0027868 Neuromuscular Diseases; C0410528 Skeletal dysplasia | | |
NM_021625.4(TRPV4):c.590A>G (p.Lys197Arg) | 59341 | TRPV4 | Pathogenic | 387906903 | RCV000023428; RCV000202524; | N | MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110240918 | 110240918 | NM_021625.4:c.590A>G | NP_067638.3:p.Lys197Arg | NC_000012.11:g.110240918T>C | OMIM Allelic Variant:605427.0024 | C0265281 156530 Metatrophic dysplasia; C0410528 Skeletal dysplasia | | |
NM_021625.4(TRPV4):c.266C>T (p.Thr89Ile) | 59341 | TRPV4 | Pathogenic | 397514473 | RCV000023427; RCV000202521; | N | MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110252336 | 110252336 | NM_021625.4:c.266C>T | NP_067638.3:p.Thr89Ile | NC_000012.11:g.110252336G>A | OMIM Allelic Variant:605427.0023 | C0265281 156530 Metatrophic dysplasia; C0410528 Skeletal dysplasia | | |
NM_021625.4(TRPV4):c.232G>T (p.Gly78Trp) | 59341 | TRPV4 | Pathogenic | 397514474 | RCV000023431; RCV000202458; | N | MedGen:C0027868,ORPHA:68381; MedGen:C0265281,OMIM:156530,ORPHA:2635,SNOMED CT:22764001; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110252370 | 110252370 | NM_021625.4:c.232G>T | NP_067638.3:p.Gly78Trp | NC_000012.11:g.110252370C>A | OMIM Allelic Variant:605427.0027 | C0265281 156530 Metatrophic dysplasia; C0027868 Neuromuscular Diseases; C0410528 Skeletal dysplasia | | |