GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCA12 R44Qinsufficiently evaluated not reviewedunknown

(5 web hits)

ABCA12 S110Tinsufficiently evaluated not reviewedunknown
ABCA12 S141Tinsufficiently evaluated noneunknown
ABCA12 W199Cinsufficiently evaluated not reviewed, f=0.071unknown

(2 web hits)

hu3215A7 build 36 substitution variants
var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
ABCA12 V224Ainsufficiently evaluated noneunknown
ABCA12 E232Ginsufficiently evaluated not reviewedunknown

(5 web hits)

hu728FFF build 36 substitution variants
ABCA12 N237Hinsufficiently evaluated not reviewed, f=0.162unknown

(2 web hits)

var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
ABCA12 Q274Rinsufficiently evaluated not reviewed, f=0.044unknown

(1 web hit)

hu3215A7 build 36 substitution variants
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
hu728FFF build 36 substitution variants
ABCA12 R287Guncertain benign, f=0.044undefined

(1 web hit)

hu3215A7 build 36 substitution variants
var-GS19834-1100-36-ASM
hu728FFF build 36 substitution variants
ABCA12 R313Qinsufficiently evaluated noneunknown

(2 web hits)

ABCA12 S325Finsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
ABCA12 S428Tinsufficiently evaluated not reviewed, f=0.000unknown
ABCA12 S459Tinsufficiently evaluated not reviewed, f=0.000unknown

(12 web hits)

CGI sample GS00253-DNA_A01_200_37
hu728FFF build 36 substitution variants (hom)
ABCA12 V542Ainsufficiently evaluated none, f=0.017unknown CGI sample GS000006909
var-GS19648-1100-36-ASM
ABCA12 E550Ginsufficiently evaluated not reviewed, f=0.046unknown

(2 web hits)

hu3215A7 build 36 substitution variants
var-GS19017-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
ABCA12 P589Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
ABCA12 R631Qinsufficiently evaluated none, f=0.008unknown var-GS18558-1100-36-ASM
ABCA12 N678Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA12 S777Tinsufficiently evaluated not reviewed, f=0.998unknown

(8 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ABCA12 F830Vinsufficiently evaluated not reviewedunknown
ABCA12 L972Pinsufficiently evaluated not reviewedunknown

(3 web hits)

ABCA12 F1148Vinsufficiently evaluated not reviewedunknown
ABCA12 G1179Rinsufficiently evaluated pathogenicunknown

(1 web hit)

ABCA12 L1290Pinsufficiently evaluated not reviewedunknown
ABCA12 M1317Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
ABCA12 N1380Sinsufficiently evaluated pathogenic, f=0.000unknown

(4 web hits)

ABCA12 G1381Einsufficiently evaluated pathogenicunknown

(4 web hits)

ABCA12 I1409Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
ABCA12 G1467Dinsufficiently evaluated not reviewedunknown
ABCA12 N1497Dinsufficiently evaluated not reviewedunknown
ABCA12 R1514Hinsufficiently evaluated pathogenicunknown

(2 web hits)

ABCA12 E1539Kinsufficiently evaluated pathogenicunknown

(4 web hits)

ABCA12 M1647Tinsufficiently evaluated noneunknown
ABCA12 G1651Sinsufficiently evaluated pathogenicunknown

(2 web hits)

ABCA12 I1675Minsufficiently evaluated noneunknown
ABCA12 G1785Dinsufficiently evaluated not reviewedunknown
ABCA12 N1815Dinsufficiently evaluated not reviewedunknown
ABCA12 M1965Tinsufficiently evaluated noneunknown
ABCA12 I1993Minsufficiently evaluated none, f=0.003unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
ABCA12 N2000Sinsufficiently evaluated noneunknown
ABCA12 D2047Ninsufficiently evaluated not reviewedunknown
ABCA12 R2203Xinsufficiently evaluated pathogenicunknown
ABCA12 I2307Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
ABCA12 N2318Sinsufficiently evaluated noneunknown
ABCA12 D2363Ninsufficiently evaluated pathogenicunknown
ABCA12 D2365Ninsufficiently evaluated not reviewed, f=0.019unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS00253-DNA_C01_200_37
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
ABCA12 T2577Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
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Total results: 47

Gene search

"GENE" or "GENE A123C":

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