GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SUMF1 M1Rinsufficiently evaluated pathogenicunknown

(9 web hits)

SUMF1 M1Vinsufficiently evaluated pathogenicunknown

(6 web hits)

SUMF1 G53Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
SUMF1 S63Ninsufficiently evaluated none, f=0.192unknown

(5 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SUMF1 S155Pinsufficiently evaluated pathogenicunknown

(25 web hits)

SUMF1 P178Hinsufficiently evaluated not reviewedunknown
SUMF1 C218Yinsufficiently evaluated pathogenicunknown

(13 web hits)

SUMF1 A279Vinsufficiently evaluated pathogenic, f=0.000unknown

(20 web hits)

SUMF1 R327Xinsufficiently evaluated pathogenicunknown

(8 web hits)

SUMF1 C336Rinsufficiently evaluated pathogenicunknown

(16 web hits)

SUMF1 R345Cinsufficiently evaluated pathogenicunknown

(22 web hits)

SUMF1 A348Pinsufficiently evaluated pathogenicunknown

(13 web hits)

SUMF1 R349Qinsufficiently evaluated pathogenicunknown

(16 web hits)

SUMF1 R349Winsufficiently evaluated pathogenicunknown

(30 web hits)

SUMF1 S359Xinsufficiently evaluated pathogenicunknown

(11 web hits)

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Total results: 15

Gene search

"GENE" or "GENE A123C":

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