GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC12A3 T9Minsufficiently evaluated not reviewedunknown
SLC12A3 T180Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
SLC12A3 R209Winsufficiently evaluated pathogenicunknown

(13 web hits)

SLC12A3 A263Ginsufficiently evaluated noneunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
SLC12A3 A264Ainsufficiently evaluated pathogenicrecessive

This variant was seen as a compound heterozygote with P643L in a patient with Gitelman’s syndrome.

SLC12A3 A264Ginsufficiently evaluated none, f=0.973unknown

(1 web hit)

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 (hom)
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
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
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
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (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
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-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)
SLC12A3 A322Vinsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS000005532
SLC12A3 P349Linsufficiently evaluated pathogenicunknown

(9 web hits)

SLC12A3 C421Rinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC12A3 A513Tinsufficiently evaluated not reviewedunknown
SLC12A3 A514Tinsufficiently evaluated not reviewedunknown
SLC12A3 V578Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
SLC12A3 A588Vinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC12A3 N621Sinsufficiently evaluated noneunknown
SLC12A3 N622Sinsufficiently evaluated none, f=0.014unknown var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
SLC12A3 L623Pinsufficiently evaluated pathogenicunknown

(9 web hits)

SLC12A3 G630Vinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC12A3 R653Linsufficiently evaluated pathogenicunknown
SLC12A3 R655Hinsufficiently evaluated pathogenic, f=0.000unknown

(3 web hits)

SLC12A3 S824Tinsufficiently evaluated noneunknown
SLC12A3 S832Tinsufficiently evaluated noneunknown
SLC12A3 S833Tinsufficiently evaluated none, f=0.000unknown var-GS06994-1100-36-ASM
SLC12A3 L850Pinsufficiently evaluated pathogenicunknown
SLC12A3 R904Qinsufficiently evaluated noneunknown

(3 web hits)

SLC12A3 R912Qinsufficiently evaluated noneunknown
SLC12A3 R913Qinsufficiently evaluated none, f=0.074unknown

(3 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS18558-1100-36-ASM
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
SLC12A3 R919Cinsufficiently evaluated pathogenicrecessive

This variant was seen as a compound heterozygote together with G741R + R968* and R968* in patients with Gitelman’s syndrome. Both individuals were familial cases from N. Europe. The variant was also reported in 1/50 control chromosomes.

(8 web hits)

SLC12A3 K925Rinsufficiently evaluated not reviewedunknown
SLC12A3 R927Cinsufficiently evaluated noneunknown
SLC12A3 R928Cinsufficiently evaluated none, f=0.035unknown

(15 web hits)

hu34D5B9 exome
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
SLC12A3 K933Rinsufficiently evaluated not reviewedunknown
SLC12A3 K934Rinsufficiently evaluated not reviewedunknown
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Total results: 32

Gene search

"GENE" or "GENE A123C":

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