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.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.2146G>T (p.Ala716Ser) | 59341 | TRPV4 | Pathogenic | 121912635 | RCV000005285; RCV000202454; | N | MedGen:C0265280,OMIM:184252,ORPHA:93314; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110226267 | 110226267 | NM_021625.4:c.2146G>T | NP_067638.3:p.Ala716Ser | NC_000012.11:g.110226267C>A | OMIM Allelic Variant:605427.0005 | C0410528 Skeletal dysplasia; C0265280 184252 Spondylometaphyseal dysplasia, Kozlowski type | | |
NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) | 59341 | TRPV4 | Pathogenic | 77975504 | RCV000005282; RCV000005283; RCV000202560; | N | MedGen:C0027868,ORPHA:68381; MedGen:C0265280,OMIM:184252,ORPHA:93314; MedGen:C0410528,SNOMED CT:105986008; MedGen:C1868616,OMIM:168400,ORPHA:2646 | 12 | 110230500 | 110230500 | NM_021625.4:c.1781G>A | NP_067638.3:p.Arg594His | NC_000012.11:g.110230500C>T | OMIM Allelic Variant:605427.0003 | C0027868 Neuromuscular Diseases; C1868616 168400 Parastremmatic dwarfism; C0410528 Skeletal dysplasia; C0265280 184252 Spondylometaphyseal dysplasia, Kozlowski type | | |
NM_021625.4(TRPV4):c.998A>G (p.Asp333Gly) | 59341 | TRPV4 | Pathogenic | 121912634 | RCV000005284; RCV000202481; | N | MedGen:C0265280,OMIM:184252,ORPHA:93314; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110236573 | 110236573 | NM_021625.4:c.998A>G | NP_067638.3:p.Asp333Gly | NC_000012.11:g.110236573T>C | OMIM Allelic Variant:605427.0004 | C0410528 Skeletal dysplasia; C0265280 184252 Spondylometaphyseal dysplasia, Kozlowski type | | |
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) | 59341 | TRPV4 | Pathogenic | 267607148 | RCV000005302; RCV000202563; | N | MedGen:C0027868,ORPHA:68381; MedGen:C0265280,OMIM:184252,ORPHA:93314; MedGen:C0410528,SNOMED CT:105986008 | 12 | 110238444 | 110238444 | NM_021625.4:c.832G>A | NP_067638.3:p.Glu278Lys | NC_000012.11:g.110238444C>T | OMIM Allelic Variant:605427.0017 | C0027868 Neuromuscular Diseases; C0410528 Skeletal dysplasia; C0265280 184252 Spondylometaphyseal dysplasia, Kozlowski type | | |