GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC26A2 R178Xpathogenic, f=0.000recessive

The SLC26A2 gene encodes for the Diastrophic Dysplasia Sulfate Transporter, a 12-domain transmembrane protein that serves as a sulfate permease (sulfate/chloride transporter) across the cell membrane. Mutations within this gene have been associated with three skeletal disorders: Diastrophic Dysplasia (DTD), Achondrogenesis Type 1B (ACG1B), and A02. All of these disorders produce severe phenotypic effects, including defects in various bone and cartilage structures throughout the body. This variant, which results in a nonsense mutation (i.e., truncated protein), has been found in ACG1B patients across several different ethnic origins. Further analysis indicated that there was no detectable DTDST activity with this mutation.

(29 web hits)

SLC26A2 I219Vinsufficiently evaluated not reviewed, f=0.009unknown var-GS19020-1100-36-ASM
var-GS19704-1100-36-ASM
SLC26A2 G255Einsufficiently evaluated pathogenic, f=0.000unknown

(5 web hits)

SLC26A2 R279Winsufficiently evaluated pathogenic, f=0.001unknown

(70 web hits)

SLC26A2 N425Dinsufficiently evaluated pathogenicunknown

(12 web hits)

SLC26A2 Q454Pinsufficiently evaluated pathogenicunknown

(11 web hits)

SLC26A2 R492Winsufficiently evaluated pathogenic, f=0.015recessive

This variant was found in “numerous” autosomal recessive diastrophic dysplasia patients, but later evidence point to it likely being a benign polymorphism.

(4 web hits)

hu34D5B9 exome
var-GS06994-1100-36-ASM
SLC26A2 A494Sinsufficiently evaluated not reviewedunknown
SLC26A2 M504Iinsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
SLC26A2 S506Ninsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
SLC26A2 T512Kinsufficiently evaluated pathogenicunknown

(5 web hits)

SLC26A2 I574Iinsufficiently evaluated nonerecessive

This variant was seen in two presumed compound heterozygotes (one with the second mutation not found, and the other with delV340 + R279W) with autosomal recessive diastrophic dysplasia.

SLC26A2 I574Tinsufficiently evaluated not reviewed, f=0.993unknown 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 (hom)
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
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
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 (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 (hom)
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 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-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 (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
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 (hom)
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 (hom)
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 (hom)
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 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SLC26A2 C653Sinsufficiently evaluated pathogenic, f=0.000unknown

(44 web hits)

SLC26A2 G678Vinsufficiently evaluated pathogenicunknown

(10 web hits)

SLC26A2 T689Sinsufficiently evaluated none, f=0.197unknown

(4 web hits)

var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SLC26A2 N696Sinsufficiently evaluated none, f=0.002unknown var-GS19129-1100-36-ASM
SLC26A2 A715Vinsufficiently evaluated pathogenic, f=0.000unknown

(15 web hits)

Page: 1 2
Total results: 18

Gene search

"GENE" or "GENE A123C":

Log in