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: rs904200599
rs904200599
TASP1
1.000 20 13534116 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886041936
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886041300
rs886041300
KCNH1
1.000 0.160 1 210920032 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886041125
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886041097
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886041095
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886041045
rs886041045
SMARCA2
1.000 0.280 9 2086854 missense variant A/G snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886040958
rs886040958
ARID1B
1.000 0.280 6 157207395 frameshift variant CC/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886039814
rs886039814
WDR19
0.807 0.200 4 39218060 missense variant C/G snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs878853165
rs878853165
MAST1 ; HOOK2
0.882 0.200 19 12843558 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs875989802
rs875989802
DDX3X
0.882 0.080 X 41344278 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs869312742
rs869312742
SMG9
0.882 0.080 19 43744768 splice region variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 1.000 1 2016 2016
dbSNP: rs869312741
rs869312741
SMG9
0.882 0.080 19 43747509 frameshift variant GG/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 1.000 1 2016 2016
dbSNP: rs869312696
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs869312689
rs869312689
ZBTB18
0.925 0.160 1 244053934 missense variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs869312686
rs869312686
HCFC1
0.882 0.120 X 153952053 missense variant G/C;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs869312681
rs869312681
GRIN2A
1.000 16 9763169 missense variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs867593888
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 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: rs797045412
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs786205567
rs786205567
IFT122
0.925 0.120 3 129500070 splice donor variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs782661984
rs782661984
POLR3GL
0.925 0.040 1 145974824 splice acceptor variant G/A snv 2.3E-05 1.4E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs776291104
rs776291104
MED25
0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0