GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HEXA M1Vinsufficiently evaluated pathogenic, f=0.000unknown

(113 web hits)

HEXA W26Xinsufficiently evaluated pathogenicunknown

(7 web hits)

HEXA L39Rinsufficiently evaluated pathogenicunknown
HEXA L127Rinsufficiently evaluated pathogenicunknown

(1 web hit)

HEXA R137Xinsufficiently evaluated pathogenicunknown

(7 web hits)

HEXA R170Qinsufficiently evaluated pathogenicunknown

(14 web hits)

HEXA R170Winsufficiently evaluated pathogenicunknown

(7 web hits)

HEXA R178Cinsufficiently evaluated pathogenicunknown

(15 web hits)

HEXA R178Hinsufficiently evaluated pathogenicunknown

(41 web hits)

HEXA R178Linsufficiently evaluated pathogenicunknown

(2 web hits)

HEXA Y180Hinsufficiently evaluated pathogenicunknown

(2 web hits)

HEXA Y180Xinsufficiently evaluated pathogenicunknown

(6 web hits)

HEXA N196Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
HEXA K197Tinsufficiently evaluated pathogenic, f=0.000unknown
HEXA H204Rinsufficiently evaluated pathogenicunknown
HEXA S210Finsufficiently evaluated pathogenicunknown

(8 web hits)

HEXA F211Sinsufficiently evaluated pathogenicunknown
HEXA R247Wuncertain benign, f=0.003recessive

Other variants in this gene cause Tay-Sachs disease. This variant causes “pseudodeficiency”: some biochemical assays for detecting carriers of Tay-Sachs mutations will report also carriers of this variant (even though it does not cause the disease).

(84 web hits)

HEXA G250Dinsufficiently evaluated pathogenicunknown

(9 web hits)

HEXA A255Pinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B01_200_37
HEXA D258Hinsufficiently evaluated pathogenicunknown

(3 web hits)

HEXA G269Sinsufficiently evaluated pathogenic, f=0.000recessive

Adult onset Tay-Sachs Disease

(174 web hits)

HEXA M301Rinsufficiently evaluated pathogenicunknown
HEXA V324Vinsufficiently evaluated pathogenicunknown

(44 web hits)

HEXA W329Xinsufficiently evaluated pathogenicunknown
HEXA W392Xinsufficiently evaluated pathogenicunknown

(3 web hits)

HEXA R393Xinsufficiently evaluated pathogenicunknown

(3 web hits)

HEXA N399Dinsufficiently evaluated not reviewed, f=0.037unknown

(2 web hits)

var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
HEXA W420Cinsufficiently evaluated pathogenicunknown

(13 web hits)

HEXA I436Vinsufficiently evaluated not reviewed, f=0.867unknown

(2 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
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
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
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
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
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-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
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
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
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
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
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
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
HEXA L451Vinsufficiently evaluated pathogenicunknown

(3 web hits)

HEXA G454Sinsufficiently evaluated pathogenicunknown
HEXA W474Cinsufficiently evaluated pathogenicunknown

(84 web hits)

HEXA E482Kinsufficiently evaluated pathogenicunknown

(18 web hits)

HEXA W485Rinsufficiently evaluated pathogenicunknown

(13 web hits)

HEXA R499Cinsufficiently evaluated pathogenicunknown

(21 web hits)

HEXA R499Hinsufficiently evaluated pathogenicunknown

(30 web hits)

HEXA R504Cpathogenic, f=0.000recessive

Reported to cause Tay-Sachs disease in a recessive manner, recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004112/). A couple different publications mention this variant, including Neudorfer et al 2005 (PMID: 15714079) who report 2 Tay-Sachs patients carrying this variant compound heterozygously out of 21 studied.

(4 web hits)

HEXA R504Hinsufficiently evaluated pathogenicunknown

(2 web hits)

HEXA E506Dinsufficiently evaluated not reviewedunknown
HEXA G805Ainsufficiently evaluated pathogenicunknown

(7 web hits)

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Total results: 41

Gene search

"GENE" or "GENE A123C":

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