GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SALL4 G117Rinsufficiently evaluated none, f=0.001unknown

(15 web hits)

var-GS18956-1100-36-ASM
SALL4 K175Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SALL4 E216Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS06985-1100-36-ASM
SALL4 L507Rinsufficiently evaluated not reviewed, f=0.281dominant

Although the exact function of the SALL4 protein is unknown, mutations in the SALL4 gene have been associated with Okihiro syndrome, acro-renal-ocular syndrome, and IVIC syndrome. Most SALL4-related disorders are autosomal dominant.

(12 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
var-GS19025-1100-36-ASM
hu34D5B9 exome
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
var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
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
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SALL4 G523Rinsufficiently evaluated not reviewedunknown
SALL4 F536Linsufficiently evaluated not reviewedunknown
SALL4 R617Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SALL4 Q652Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SALL4 A728Pinsufficiently evaluated none, f=0.028unknown var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
SALL4 P740Ainsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_F01_200_37 (hom)
SALL4 R745Cinsufficiently evaluated not reviewed, f=0.000unknown
SALL4 I798Linsufficiently evaluated none, f=0.093unknown

(5 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
SALL4 T828Minsufficiently evaluated not reviewed, f=0.003unknown var-GS18501-1100-36-ASM
SALL4 R865Xinsufficiently evaluated pathogenicunknown

(11 web hits)

SALL4 H888Rinsufficiently evaluated pathogenicunknown

(9 web hits)

SALL4 R905Xinsufficiently evaluated pathogenicunknown

(1 web hit)

SALL4 I1050Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
Page: 1 2
Total results: 17

Gene search

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