GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
KCNV2 K3Shiftlikely pathogenicrecessive

Reported in ClinVar to cause retinal cone dystrophy in a recessive manner: http://www.ncbi.nlm.nih.gov/clinvar/RCV000033031.3/

KCNV2 E143Xinsufficiently evaluated pathogenicunknown
KCNV2 V226Iinsufficiently evaluated none, f=0.008unknown
KCNV2 S256Winsufficiently evaluated pathogenicunknown
KCNV2 M285Rinsufficiently evaluated not reviewed, f=0.006unknown CGI sample GS00253-DNA_B02_200_37
KCNV2 E306Xinsufficiently evaluated pathogenicunknown
KCNV2 M307Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
KCNV2 A331Sinsufficiently evaluated not reviewed, f=0.019unknown var-GS19735-1100-36-ASM
KCNV2 I418Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
KCNV2 A419Tinsufficiently evaluated not reviewedunknown
KCNV2 G459Dinsufficiently evaluated pathogenicunknown
KCNV2 A505Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
KCNV2 L533Vinsufficiently evaluated none, f=0.157unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
KCNV2 L539Pinsufficiently evaluated not reviewed, f=0.015unknown var-GS19020-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19026-1100-36-ASM
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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