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: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 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: rs886040958
rs886040958
ARID1B
1.000 0.280 6 157207395 frameshift variant CC/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs730882201
rs730882201
ARL14EP
1.000 11 30336665 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
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: rs147030232
rs147030232
BBS2
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
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: rs1135402760
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 1.000 1 2019 2019
dbSNP: rs730882202
rs730882202
CACNA1G
0.925 0.160 17 50571953 inframe deletion TTC/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1553196096
rs1553196096
CDC42
1 22086463 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1553196101
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1553196134
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1565977796
rs1565977796
CDK8
0.882 0.120 13 26337623 stop gained C/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs773722162
rs773722162
CELSR2
0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs367557471
rs367557471
CHD7
1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs147484110
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs121434616
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs752738546
rs752738546
DDX3X
1.000 X 41343802 stop gained G/A;T snv 5.6E-06
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: rs1569355102
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs376103091
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1057519521
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0