GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ARSA R5Winsufficiently evaluated not reviewedunknown CGI sample GS000006909
ARSA A12Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS19700-1100-36-ASM
ARSA R84Qinsufficiently evaluated pathogenicunknown

(22 web hits)

ARSA G86Dinsufficiently evaluated pathogenicunknown

(8 web hits)

ARSA S96Linsufficiently evaluated pathogenicunknown

(5 web hits)

ARSA S96Finsufficiently evaluated pathogenicunknown

(15 web hits)

ARSA G99Dinsufficiently evaluated pathogenicunknown

(5 web hits)

ARSA W109Cinsufficiently evaluated not reviewedunknown
ARSA G122Sinsufficiently evaluated pathogenicunknown

(1 web hit)

ARSA L135Pinsufficiently evaluated pathogenicunknown

(3 web hits)

ARSA P136Linsufficiently evaluated pathogenicunknown

(13 web hits)

ARSA G154Dinsufficiently evaluated pathogenicunknown

(1 web hit)

ARSA P155Rinsufficiently evaluated pathogenicunknown

(1 web hit)

ARSA P167Rinsufficiently evaluated pathogenicunknown

(6 web hits)

ARSA D169Ninsufficiently evaluated pathogenicunknown

(3 web hits)

ARSA I179Sinsufficiently evaluated pathogenicunknown

Reported to cause metachromatic leukodystrophy (adult and juvenile onset) in a recessive manner.

(32 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
ARSA W193Cinsufficiently evaluated not reviewed, f=0.055unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS00253-DNA_H01_200_37
ARSA A212Vinsufficiently evaluated pathogenicunknown

(12 web hits)

ARSA A224Vinsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

ARSA P231Tinsufficiently evaluated pathogenicunknown

(1 web hit)

ARSA R244Cinsufficiently evaluated pathogenic, f=0.000unknown

(3 web hits)

ARSA G245Rinsufficiently evaluated pathogenicunknown

(3 web hits)

ARSA E253Kinsufficiently evaluated pathogenicunknown

(7 web hits)

ARSA N266Sinsufficiently evaluated noneunknown
ARSA T274Minsufficiently evaluated pathogenic, f=0.000recessive

This variant is associated with Arylsulfatase A Deficiency

(26 web hits)

ARSA T286Pinsufficiently evaluated pathogenicunknown

(3 web hits)

ARSA R288Cinsufficiently evaluated pathogenicunknown

(6 web hits)

ARSA S295Yinsufficiently evaluated pathogenicunknown

(1 web hit)

ARSA C300Finsufficiently evaluated pathogenicunknown

(37 web hits)

ARSA T307Sinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants
ARSA G309Sinsufficiently evaluated pathogenicunknown

(1 web hit)

ARSA D335Vinsufficiently evaluated pathogenic, f=0.000unknown

(16 web hits)

ARSA N350Suncertain benign, f=0.183unknown

This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.

(26 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ARSA R370Qinsufficiently evaluated pathogenicunknown
ARSA R370Winsufficiently evaluated pathogenicunknown

(1 web hit)

ARSA P377Linsufficiently evaluated pathogenicrecessive

This variant is associated with Arylsulfatase A Deficiency

(11 web hits)

ARSA E382Kinsufficiently evaluated pathogenicunknown

(7 web hits)

ARSA R390Winsufficiently evaluated pathogenicunknown

(2 web hits)

ARSA T391Sinsufficiently evaluated not reviewed, f=0.481unknown

(14 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (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 (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
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-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
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_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
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
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ARSA T408Iinsufficiently evaluated pathogenicunknown

(2 web hits)

ARSA T409Iinsufficiently evaluated pathogenicunknown

(3 web hits)

ARSA R412Hinsufficiently evaluated noneunknown

(2 web hits)

ARSA P425Tinsufficiently evaluated pathogenicunknown

(35 web hits)

ARSA P426Linsufficiently evaluated pathogenic, f=0.000recessive

Arylsulfatase A Deficiency

(96 web hits)

ARSA Q486Xinsufficiently evaluated pathogenicunknown

(11 web hits)

ARSA R496Hinsufficiently evaluated benign, f=0.055unknown

(14 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS000006909
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19240-1100-36-ASM
Page: 1 2 3 4 5
Total results: 46

Gene search

"GENE" or "GENE A123C":

Log in