GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCC8 N72Sinsufficiently evaluated pathogenicunknown

(30 web hits)

ABCC8 F132Linsufficiently evaluated pathogenicunknown

(96 web hits)

ABCC8 V187Dinsufficiently evaluated pathogenicrecessive

This variant is implicated in Neonatal Diabetes Mellitus.

(54 web hits)

ABCC8 L213Rinsufficiently evaluated pathogenicunknown

(20 web hits)

ABCC8 E382Kinsufficiently evaluated pathogenicunknown

(4 web hits)

ABCC8 L582Vinsufficiently evaluated pathogenicunknown

(18 web hits)

ABCC8 R620Cinsufficiently evaluated none, f=0.004unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
ABCC8 G716Vinsufficiently evaluated pathogenicunknown

(6 web hits)

ABCC8 D818Ginsufficiently evaluated not reviewedunknown
ABCC8 A1185Einsufficiently evaluated pathogenicunknown

(4 web hits)

ABCC8 T1194Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
ABCC8 R1353Hinsufficiently evaluated pathogenicunknown

(15 web hits)

ABCC8 R1353Pinsufficiently evaluated pathogenicunknown

(8 web hits)

ABCC8 A1369Sinsufficiently evaluated not reviewed, f=0.739unknown

(181 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
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)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
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)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
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
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ABCC8 R1379Cinsufficiently evaluated pathogenicunknown

(19 web hits)

ABCC8 G1401Rinsufficiently evaluated pathogenicunknown

(7 web hits)

ABCC8 R1421Cinsufficiently evaluated pathogenicunknown

(7 web hits)

ABCC8 I1424Vinsufficiently evaluated pathogenicunknown

(15 web hits)

ABCC8 R1494Winsufficiently evaluated pathogenicunknown

(13 web hits)

ABCC8 E1506Kinsufficiently evaluated pathogenicunknown

(132 web hits)

ABCC8 T1508Pinsufficiently evaluated none, f=0.155unknown

(1 web hit)

ABCC8 V1572Iinsufficiently evaluated not reviewed, f=0.055unknown

(8 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
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Total results: 22

Gene search

"GENE" or "GENE A123C":

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