GET-Evidence: Search

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VariantImpactInheritance patternSummaryGenomes
MED12 R961Winsufficiently evaluated pathogenicunknown

(177 web hits)

MED12 N1007Sinsufficiently evaluated pathogenicunknown

(114 web hits)

MED12 R1261Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F06 from PGP sample 64191565
MED12 M1865Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
MED12 G1884Sinsufficiently evaluated not reviewed, f=0.006unknown CGI sample GS00253-DNA_B02_200_37 (hom)
MED12 G2037Cinsufficiently evaluated not reviewed, f=0.011unknown
MED12 Q2119QHQQQinsufficiently evaluated not reviewed, f=0.012unknown var-GS19649-1100-36-ASM (hom)
MED12 Q2120Hinsufficiently evaluated not reviewed, f=0.011unknown
MED12L Q401Pinsufficiently evaluated none, f=0.100unknown hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM (hom)
MED12L D610Yinsufficiently evaluated none, f=0.007unknown var-GS19129-1100-36-ASM
MED12L E739Ginsufficiently evaluated not reviewedunknown
MED12L E739Kinsufficiently evaluated not reviewedunknown
MED12L C1096Rinsufficiently evaluated not reviewedunknown
MED12L R1210Qinsufficiently evaluated none, f=0.273unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
MED12L M1558Vinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
MED12L T1667Minsufficiently evaluated not reviewedunknown
MED12L R1698Qinsufficiently evaluated noneunknown

(2 web hits)

MED12L R1920Qinsufficiently evaluated not reviewed, f=0.006unknown CGI sample GS00253-DNA_B02_200_37
MED12L V2056Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
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Total results: 19

Gene search

"GENE" or "GENE A123C":

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