Gene: TRPV4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. 28898540

2017
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. 28898540

2017
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head. 27330106

2016
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head. 27330106

2016
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Phenotypic variability of TRPV4 related neuropathies. 25900305

2015
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. 26249260

2015
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. 26249260

2015
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR Phenotypic variability of TRPV4 related neuropathies. 25900305

2015
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. 24677493

2014
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. 24677493

2014
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR TRPV4-associated skeletal dysplasias. 22791502

2012
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. 22851605

2012
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR TRPV4-associated skeletal dysplasias. 22791502

2012
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. 22851605

2012
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. 21288981

2011
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Mutations in TRPV4 cause an inherited arthropathy of hands and feet. 21964574

2011
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. 21288981

2011
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR Mutations in TRPV4 cause an inherited arthropathy of hands and feet. 21964574

2011
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 20037587

2010
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. 20425821

2010
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 20037586

2010
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 20577006

2010
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 20037588

2010
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. 20460441

2010
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. 21115951

2010