GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TRPV4 P19Sinsufficiently evaluated none, f=0.030unknown

(13 web hits)

var-GS19704-1100-36-ASM
var-GS19129-1100-36-ASM
TRPV4 S46Finsufficiently evaluated not reviewed, f=0.000unknown var-GS12004-1100-36-ASM
TRPV4 S100Rinsufficiently evaluated not reviewedunknown
TRPV4 S134Rinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_D01_200_37
TRPV4 I157Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
TRPV4 A217Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
TRPV4 L257Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
TRPV4 R269Cinsufficiently evaluated pathogenicdominant

Found in individuals in one family with Charcot-Marie-Tooth disease type 2C (CMT2C), also known as hereditary motor and sensory neuropathy type IIC (HMSN IIC, HMSN2C).

(28 web hits)

TRPV4 R269Hinsufficiently evaluated pathogenicdominant

Found to co-segregate with Charcot-Marie-Tooth disease type 2C (CMT2C), also known as hereditary motor and sensory neuropathy type IIC (HMSN IIC, HMSN2C), in a large pedigree from an American family of English and Scottish descent; not found in SNP databases or in 700 controls.

(54 web hits)

TRPV4 E286Ainsufficiently evaluated not reviewedunknown
TRPV4 R315Winsufficiently evaluated pathogenicdominant

Found in affected individuals in several families with hereditary motor and sensory neuropathy 2C (HMSN2C, MIM %606071), not found in healthy European controls.

(34 web hits)

TRPV4 R316Cinsufficiently evaluated pathogenicdominant

Found to co-segregate with scapuloperoneal spinal muscular atrophy (SPSMA) in a large pedigree from a New England family of French-Canadian origin; absent in SNP databases and in over 600 controls. Thought to increase calcium channel activity.

(35 web hits)

TRPV4 V324Ainsufficiently evaluated not reviewedunknown
TRPV4 I331Finsufficiently evaluated pathogenicunknown

(2 web hits)

TRPV4 D333Ginsufficiently evaluated pathogenicunknown

(3 web hits)

TRPV4 V562Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
TRPV4 I571Minsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
TRPV4 R594Hinsufficiently evaluated pathogenicunknown

(21 web hits)

TRPV4 R616Qinsufficiently evaluated pathogenicunknown

(22 web hits)

TRPV4 V620Iinsufficiently evaluated pathogenicunknown

(23 web hits)

TRPV4 P638Linsufficiently evaluated not reviewed, f=0.001unknown var-GS18504-1100-36-ASM
TRPV4 A716Sinsufficiently evaluated pathogenicunknown

(3 web hits)

TRPV4 P799Linsufficiently evaluated pathogenicunknown

(2 web hits)

TRPV4 E840Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
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Total results: 24

Gene search

"GENE" or "GENE A123C":

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