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Results: 3

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
TRPV4Charcot-Marie-Tooth disease type 2CPathogenic/Likely pathogenic
(Nov 8, 2012)
classified by single submitter12109798819
2.
TRPV4Distal spinal muscular atrophy, congenital nonprogressive, Charcot-Marie-Tooth disease type 2CPathogenic/Likely pathogenic
(Nov 8, 2012)
classified by multiple submitters12109803009
3.
TRPV4Distal spinal muscular atrophy, congenital nonprogressive, Charcot-Marie-Tooth disease type 2CPathogenic/Likely pathogenic
(Nov 8, 2012)
classified by multiple submitters12109800665

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