GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SALL1 M1Vinsufficiently evaluated noneunknown
SALL1 V30Linsufficiently evaluated not reviewedunknown
SALL1 S62Ginsufficiently evaluated noneunknown

(1 web hit)

SALL1 M98Vinsufficiently evaluated none, f=0.005unknown

(4 web hits)

var-GS19129-1100-36-ASM
SALL1 V127Linsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS00253-DNA_D01_200_37
SALL1 S143Tinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_G01_200_37
SALL1 S159Ginsufficiently evaluated none, f=0.053unknown

(10 web hits)

SALL1 R276Xinsufficiently evaluated pathogenicunknown

(84 web hits)

SALL1 Q323Xinsufficiently evaluated pathogenicunknown

(1 web hit)

SALL1 L419Xinsufficiently evaluated pathogenicunknown

(6 web hits)

SALL1 V1178Iinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
SALL1 N1194Sinsufficiently evaluated not reviewedunknown
SALL1 V1275Iinsufficiently evaluated not reviewed, f=0.988unknown

(5 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 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (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)
CGI sample GS000005532 (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)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (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)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS00253-DNA_A02_200_37 (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)
hu728FFF build 36 substitution variants (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SALL1 N1291Sinsufficiently evaluated not reviewed, f=0.012unknown CGI sample GS00253-DNA_E01_200_37
Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

Log in