Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1057519912
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1556334793
rs1556334793
MED12
1.000 X 71122558 frameshift variant G/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 1993 2016
dbSNP: rs1556340124
rs1556340124
MED12
1.000 X 71141320 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 1993 2016
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.860 1.000 3 2007 2011
dbSNP: rs1057519381
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs1569481124
rs1569481124
MED12
1.000 0.160 X 71123155 missense variant C/T snv
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs397515554
rs397515554
MED12
1.000 0.160 X 71127359 missense variant G/A snv
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs762905361
rs762905361
MED12
1.000 0.160 X 71126057 missense variant G/A snv 5.5E-06 9.6E-06
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs765417606
rs765417606
MED12
0.882 0.400 X 71124263 missense variant A/G snv 2.8E-05 8.6E-05
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs80338759
rs80338759
MED12
0.925 0.280 X 71127931 missense variant A/G snv
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs863223696
rs863223696
MED12
1.000 0.160 X 71132100 missense variant G/A snv
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs879255526
rs879255526
MED12
1.000 0.160 X 71127978 missense variant A/G snv
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs879255527
rs879255527
MED12
1.000 0.160 X 71137791 frameshift variant -/C delins
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs1057519912
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0