GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RELN T139Sinsufficiently evaluated none, f=0.001unknown
RELN S465Finsufficiently evaluated not reviewedunknown
RELN E530Kinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_A02_200_37
RELN S600Finsufficiently evaluated not reviewed, f=0.010unknown var-GS06985-1100-36-ASM
RELN S630Rinsufficiently evaluated not reviewed, f=0.023unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS00253-DNA_A02_200_37
RELN P672Llikely pathogenicdominant

Reported by ClinVar to cause familial temporal lobe epilepsy (https://www.ncbi.nlm.nih.gov/clinvar/variation/208481/). In ClinVar this variant is reported as “pathogenic” (causing this condition) by a single source, GeneReviews, which cites their article written by Ruth Ottman: https://www.ncbi.nlm.nih.gov/books/NBK1537/

This variant is somewhat rare according to ExAC data, potentially consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/7-103281044-G-A).

RELN P708Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
RELN E851Ginsufficiently evaluated not reviewedunknown
RELN T978Ainsufficiently evaluated not reviewed, f=0.017unknown var-GS21767-1100-36-ASM
var-GS19026-1100-36-ASM
RELN L997Vinsufficiently evaluated none, f=0.096unknown CGI sample GS00253-DNA_E01_200_37
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
RELN A1064Ginsufficiently evaluated not reviewed, f=0.016unknown var-GS21767-1100-36-ASM
var-GS19026-1100-36-ASM
RELN S1174Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
RELN Q1211Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
RELN S1275Ainsufficiently evaluated not reviewedunknown
RELN G1280Euncertain benign, f=0.011unknown

Probably benign.

(2 web hits)

CGI sample GS000006909
CGI sample GS00253-DNA_B01_200_37
RELN A1574Tinsufficiently evaluated none, f=0.000unknown
RELN V1762Iinsufficiently evaluated not reviewed, f=0.011unknown var-GS19238-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
RELN F1944Cinsufficiently evaluated not reviewed, f=0.027unknown var-GS19025-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18505-1100-36-ASM
RELN C2069Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
RELN V2092Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
RELN A2371Tinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
RELN S2513Cinsufficiently evaluated not reviewed, f=0.004unknown var-GS18501-1100-36-ASM
var-GS19239-1100-36-ASM
RELN A2545Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
RELN N2591Sinsufficiently evaluated not reviewedunknown
RELN A2696Tinsufficiently evaluated not reviewed, f=0.014unknown var-GS19700-1100-36-ASM
var-GS19834-1100-36-ASM
RELN W2753Rinsufficiently evaluated not reviewedunknown
RELN F2836Linsufficiently evaluated not reviewedunknown
RELN P2880Sinsufficiently evaluated not reviewedunknown
RELN G3244Sinsufficiently evaluated none, f=0.014unknown var-GS18501-1100-36-ASM
RELN R3439Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM
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Total results: 30

Gene search

"GENE" or "GENE A123C":

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