GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CAPN3 G21Einsufficiently evaluated not reviewed, f=0.015unknown
CAPN3 K58Tinsufficiently evaluated not reviewedunknown
CAPN3 K85Ninsufficiently evaluated not reviewedunknown
CAPN3 S86Finsufficiently evaluated pathogenicunknown

(16 web hits)

CAPN3 T97Minsufficiently evaluated noneunknown

(3 web hits)

CAPN3 R110Xinsufficiently evaluated pathogenicunknown

(21 web hits)

CAPN3 A149Tinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
CAPN3 A160Ginsufficiently evaluated not reviewed, f=0.017unknown var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
CAPN3 T184Muncertain benign, f=0.013undefined

Probably benign — this was implicated in Limb-girdle muscular dystrophy when homozygous (in a recessive manner), but the reports lacked statistical significance and a relatively high allele frequency (>1%) contradicts the hypothesis.

(12 web hits)

CGI sample GS00253-DNA_B02_200_37
var-GS18508-1100-36-ASM
CAPN3 K211Tinsufficiently evaluated not reviewedunknown
CAPN3 A236Tinsufficiently evaluated not reviewed, f=0.245unknown

(9 web hits)

var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CAPN3 P319Linsufficiently evaluated pathogenicunknown

(17 web hits)

CAPN3 T324Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
CAPN3 R490Qinsufficiently evaluated pathogenicunknown

(20 web hits)

CAPN3 R490Winsufficiently evaluated not reviewed, f=0.000unknown var-GS19701-1100-36-ASM
CAPN3 R572Qinsufficiently evaluated pathogenicunknown

(20 web hits)

CAPN3 K597Ninsufficiently evaluated not reviewedunknown
CAPN3 K630Tinsufficiently evaluated not reviewedunknown
CAPN3 K631Tinsufficiently evaluated not reviewedunknown
CAPN3 K717Tinsufficiently evaluated not reviewedunknown
CAPN3 K723Tinsufficiently evaluated not reviewedunknown
CAPN3 R769Qinsufficiently evaluated pathogenicunknown

(21 web hits)

Page: 1 2 3
Total results: 22

Gene search

"GENE" or "GENE A123C":

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