GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
EFHC1 P77Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
EFHC1 F103Cinsufficiently evaluated not reviewedunknown
EFHC1 R159Ginsufficiently evaluated none, f=0.031unknown var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM
EFHC1 R159Winsufficiently evaluated none, f=0.100unknown

(13 web hits)

hu34D5B9 exome
CGI sample GS000006909
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS06994-1100-36-ASM
EFHC1 H162Yinsufficiently evaluated not reviewed, f=0.000unknown
EFHC1 R163Hinsufficiently evaluated not reviewedunknown
EFHC1 I174Vinsufficiently evaluated pathogenicunknown

(26 web hits)

EFHC1 R182Huncertain benign, f=0.044unknown

Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.

(44 web hits)

CGI sample GS00253-DNA_E01_200_37
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
EFHC1 D210Ninsufficiently evaluated pathogenicunknown

(9 web hits)

EFHC1 D210Vinsufficiently evaluated none, f=0.005unknown

(1 web hit)

var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM
EFHC1 R221Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
EFHC1 F229Linsufficiently evaluated pathogenic, f=0.003unknown

(16 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
EFHC1 D253Yinsufficiently evaluated pathogenicunknown

(10 web hits)

EFHC1 C259Yinsufficiently evaluated pathogenicunknown

(11 web hits)

EFHC1 Q277Xinsufficiently evaluated pathogenicunknown
EFHC1 R296Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19026-1100-36-ASM
EFHC1 V300Linsufficiently evaluated noneunknown
EFHC1 E357Kinsufficiently evaluated none, f=0.002unknown var-GS19129-1100-36-ASM
EFHC1 M429Tinsufficiently evaluated not reviewedunknown
EFHC1 M448Tinsufficiently evaluated none, f=0.087unknown

(9 web hits)

var-GS19025-1100-36-ASM
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18517-1100-36-ASM
EFHC1 I619Linsufficiently evaluated not reviewed, f=0.064unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
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Total results: 21

Gene search

"GENE" or "GENE A123C":

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