GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC26A4 E29Qinsufficiently evaluated pathogenicunknown

(25 web hits)

SLC26A4 T99Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
SLC26A4 S133Tinsufficiently evaluated pathogenicunknown

(14 web hits)

SLC26A4 V138Finsufficiently evaluated pathogenicunknown

(80 web hits)

SLC26A4 T193Iinsufficiently evaluated pathogenicunknown

(12 web hits)

SLC26A4 G209Vinsufficiently evaluated pathogenic, f=0.000unknown

(23 web hits)

SLC26A4 L236Pinsufficiently evaluated pathogenic, f=0.001unknown

(108 web hits)

SLC26A4 F261Vinsufficiently evaluated not reviewedunknown
SLC26A4 F261Yinsufficiently evaluated not reviewedunknown
SLC26A4 M283Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS19834-1100-36-ASM
SLC26A4 I300Llikely pathogenic, f=0.004recessive

If homozygous, this disruptive variant may be a recessive cause of Pendred Syndrome (congenital deafness).

(1 web hit)

CGI sample GS00253-DNA_B02_200_37
SLC26A4 N324Yinsufficiently evaluated none, f=0.010unknown

(7 web hits)

var-GS18502-1100-36-ASM
var-GS18517-1100-36-ASM
SLC26A4 F335Linsufficiently evaluated pathogenic, f=0.001unknown

(25 web hits)

SLC26A4 L336Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
SLC26A4 F354Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19017-1100-36-ASM
SLC26A4 K369Einsufficiently evaluated pathogenicunknown

(14 web hits)

SLC26A4 A372Vinsufficiently evaluated pathogenicunknown

(17 web hits)

SLC26A4 E384Ginsufficiently evaluated pathogenic, f=0.000unknown

(43 web hits)

SLC26A4 T416Pinsufficiently evaluated pathogenic, f=0.000unknown

(193 web hits)

SLC26A4 L445Winsufficiently evaluated pathogenic, f=0.000unknown

(52 web hits)

SLC26A4 V454Linsufficiently evaluated noneunknown
SLC26A4 Q514Kinsufficiently evaluated pathogenicunknown

(4 web hits)

SLC26A4 Y530Hinsufficiently evaluated pathogenicunknown

(16 web hits)

SLC26A4 I539Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS19025-1100-36-ASM
SLC26A4 L597Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
SLC26A4 V609Ginsufficiently evaluated not reviewed, f=0.050unknown

(14 web hits)

var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
SLC26A4 F667Cinsufficiently evaluated pathogenicunknown

(8 web hits)

SLC26A4 G672Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
SLC26A4 T721Minsufficiently evaluated pathogenicunknown

(38 web hits)

SLC26A4 H723Rinsufficiently evaluated pathogenicunknown

(179 web hits)

SLC26A4 G740Sinsufficiently evaluated not reviewed, f=0.018unknown

(11 web hits)

Page: 1 2 3 4
Total results: 31

Gene search

"GENE" or "GENE A123C":

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