GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CACNA1A A21Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
CACNA1A R192Qinsufficiently evaluated pathogenicunknown

(275 web hits)

CACNA1A S218Linsufficiently evaluated pathogenicunknown

(346 web hits)

CACNA1A C287Yinsufficiently evaluated pathogenicunknown

(22 web hits)

CACNA1A G293Rinsufficiently evaluated pathogenicunknown

(54 web hits)

CACNA1A A453Tinsufficiently evaluated not reviewed, f=0.004unknown var-GS12004-1100-36-ASM
var-GS06985-1100-36-ASM
CACNA1A R583Qinsufficiently evaluated pathogenicunknown

(101 web hits)

CACNA1A T666Minsufficiently evaluated pathogenicunknown

(509 web hits)

CACNA1A V714Ainsufficiently evaluated pathogenicunknown

(62 web hits)

CACNA1A D715Einsufficiently evaluated pathogenicunknown

(42 web hits)

CACNA1A E917Dinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CACNA1A E920Dinsufficiently evaluated not reviewed, f=0.023unknown var-GS19649-1100-36-ASM
CACNA1A E992Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CACNA1A E995Vinsufficiently evaluated not reviewed, f=0.050unknown var-GS19020-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18956-1100-36-ASM
CACNA1A P1013Ainsufficiently evaluated not reviewed, f=0.031unknown var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19129-1100-36-ASM
CACNA1A G1104Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CACNA1A G1107Sinsufficiently evaluated not reviewed, f=0.071unknown var-GS07357-1100-36-ASM
var-GS06994-1100-36-ASM
CACNA1A P1137Ainsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
CACNA1A R1281Xinsufficiently evaluated pathogenicunknown

(19 web hits)

CACNA1A R1347Qinsufficiently evaluated pathogenicunknown

(89 web hits)

CACNA1A Y1385Cinsufficiently evaluated pathogenicunknown

(8 web hits)

CACNA1A F1406Cinsufficiently evaluated pathogenicunknown

(21 web hits)

CACNA1A A1448Vinsufficiently evaluated noneunknown
CACNA1A A1449Vinsufficiently evaluated noneunknown
CACNA1A V1457Linsufficiently evaluated pathogenicunknown

(33 web hits)

CACNA1A F1491Sinsufficiently evaluated pathogenicunknown

(7 web hits)

CACNA1A R1549Xinsufficiently evaluated pathogenicunknown

(19 web hits)

CACNA1A R1666Hinsufficiently evaluated pathogenicunknown

(7 web hits)

CACNA1A I1710Tinsufficiently evaluated pathogenicunknown

(14 web hits)

CACNA1A E1757Kinsufficiently evaluated pathogenicunknown

(4 web hits)

CACNA1A I1811Linsufficiently evaluated pathogenicunknown

(52 web hits)

CACNA1A R1820Xinsufficiently evaluated pathogenicunknown

(11 web hits)

CACNA1A R1915Xinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
CACNA1A R1918Xinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
CACNA1A E1925Ainsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_G01_200_37
CACNA1A G2044Rinsufficiently evaluated not reviewedunknown
CACNA1A G2047Rinsufficiently evaluated not reviewedunknown
CACNA1A P2090Qinsufficiently evaluated not reviewedunknown
CACNA1A P2093Qinsufficiently evaluated not reviewedunknown
CACNA1A H2219Delinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
CACNA1A S2221Pinsufficiently evaluated not reviewedunknown
CACNA1A S2224Pinsufficiently evaluated not reviewedunknown
CACNA1A H2480Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
Page: 1 2 3 4 5
Total results: 43

Gene search

"GENE" or "GENE A123C":

Log in