GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CACNA1S R41Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
CACNA1S W50Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
CACNA1S A69Ginsufficiently evaluated none, f=0.039unknown

(2 web hits)

var-GS07357-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_F01_200_37
var-GS06994-1100-36-ASM
CACNA1S N123Dinsufficiently evaluated noneunknown
CACNA1S G258Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS12004-1100-36-ASM (hom)
CGI sample GS00253-DNA_F01_200_37
CACNA1S Y299Hinsufficiently evaluated not reviewed, f=0.007unknown var-GS19020-1100-36-ASM
var-GS21767-1100-36-ASM
CACNA1S D394Ninsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

CACNA1S L458Huncertain benign, f=0.273unknown

Common polymorphism

(8 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
CACNA1S R528Hinsufficiently evaluated pathogenicunknown

(95 web hits)

CACNA1S M578Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
CACNA1S R593Qinsufficiently evaluated not reviewedunknown
CACNA1S S606Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CACNA1S E614Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
CACNA1S M635Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
CACNA1S R683Cinsufficiently evaluated not reviewed, f=0.010unknown var-GS19700-1100-36-ASM
CACNA1S M827Tinsufficiently evaluated none, f=0.012unknown

(1 web hit)

CACNA1S V878Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
CACNA1S R897Sinsufficiently evaluated pathogenicunknown
CACNA1S V947Iinsufficiently evaluated none, f=0.000unknown var-GS18956-1100-36-ASM
CACNA1S S1011Pinsufficiently evaluated not reviewedunknown
CACNA1S R1086Hinsufficiently evaluated pathogenicunknown

(45 web hits)

CACNA1S V1111Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
CACNA1S Q1142Pinsufficiently evaluated not reviewed, f=0.001unknown var-GS18504-1100-36-ASM
CACNA1S S1200Cinsufficiently evaluated not reviewedunknown
CACNA1S R1239Ginsufficiently evaluated pathogenicunknown

(79 web hits)

CACNA1S R1239Hinsufficiently evaluated pathogenicunknown

(98 web hits)

CACNA1S T1354Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CACNA1S V1449Ginsufficiently evaluated none, f=0.298unknown
CACNA1S R1539Cinsufficiently evaluated none, f=0.089unknown

(2 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS000005532
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
CACNA1S R1658Hinsufficiently evaluated none, f=0.120unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18505-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
CACNA1S G1760Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
CACNA1S L1800Sinsufficiently evaluated none, f=0.272unknown

(13 web hits)

var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CACNA1S M1808Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
CACNA1S E1840Kinsufficiently evaluated noneunknown
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Total results: 34

Gene search

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