GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SBF2 R356Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS07357-1100-36-ASM
SBF2 R487Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SBF2 C656Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS20509-1100-36-ASM
SBF2 E679Kinsufficiently evaluated none, f=0.077unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
SBF2 Q956Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SBF2 L1098Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
SBF2 R1196Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SBF2 Q1216Einsufficiently evaluated none, f=0.081unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
SBF2 V1286Finsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
SBF2 R1679Cinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
SBF2 R1686Sinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_F01_200_37
SBF2 I1789Tinsufficiently evaluated not reviewedunknown
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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