GET-Evidence: Search
About
Genomes
Guides
Recent changes
Contributors
Download
Variant
Impact
Inheritance pattern
Summary
Genomes
MED12 R961W
insufficiently evaluated pathogenic
unknown
(177 web hits)
MED12 N1007S
insufficiently evaluated pathogenic
unknown
(114 web hits)
MED12 R1261G
insufficiently evaluated not reviewed
unknown
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F06 from PGP sample 64191565
MED12 M1865V
insufficiently evaluated not reviewed
unknown
CGI sample GS01669-DNA_C07 from PGP sample 74521372
(hom)
MED12 G1884S
insufficiently evaluated not reviewed, f=0.006
unknown
CGI sample GS00253-DNA_B02_200_37
(hom)
MED12 G2037C
insufficiently evaluated not reviewed, f=0.011
unknown
MED12 Q2119QHQQQ
insufficiently evaluated not reviewed, f=0.012
unknown
var-GS19649-1100-36-ASM
(hom)
MED12 Q2120H
insufficiently evaluated not reviewed, f=0.011
unknown
MED12L Q401P
insufficiently evaluated none, f=0.100
unknown
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 D610Y
insufficiently evaluated none, f=0.007
unknown
var-GS19129-1100-36-ASM
MED12L E739G
insufficiently evaluated not reviewed
unknown
MED12L E739K
insufficiently evaluated not reviewed
unknown
MED12L C1096R
insufficiently evaluated not reviewed
unknown
MED12L R1210Q
insufficiently evaluated none, f=0.273
unknown
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 M1558V
insufficiently evaluated not reviewed
unknown
hu232307 build 36 substitution variants
MED12L T1667M
insufficiently evaluated not reviewed
unknown
MED12L R1698Q
insufficiently evaluated none
unknown
(2 web hits)
MED12L R1920Q
insufficiently evaluated not reviewed, f=0.006
unknown
CGI sample GS00253-DNA_B02_200_37
MED12L V2056Shift
insufficiently evaluated not reviewed
unknown
CGI sample GS01173-DNA_F02 from PGP sample 70008981
Page:
1
2
Total results: 19
Gene search
"GENE" or "GENE A123C":
Log in