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: rs1554555063
rs1554555063
TMEM67
0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554844486
rs1554844486
KAT6B
0.827 0.160 10 75024984 frameshift variant GGGT/- del
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554846212
rs1554846212
KAT6B ; DUPD1
0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554985320
rs1554985320
PAX6
0.925 0.240 11 31801619 stop gained C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1555103652
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1555380716
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1555564126
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins
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: rs1556165162
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1557045296
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1560092224
rs1560092224
ZBTB20
0.925 0.040 3 114339276 missense variant T/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1565369746
rs1565369746
KCNK4 ; KCNK4-TEX40
11 64297507 missense variant C/A 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: rs1569355102
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs267608327
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs387906692
rs387906692
PRKAR1A ; FAM20A
0.752 0.480 17 68530405 stop gained C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs397507542
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs483352822
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs587784000
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs672601370
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs727504031
rs727504031
NDP ; NDP-AS1
0.925 0.200 X 43949981 missense variant G/A snv
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: rs730882202
rs730882202
CACNA1G
0.925 0.160 17 50571953 inframe deletion TTC/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs730882218
rs730882218
MGAT2 ; RPL36AL
0.925 0.120 14 49621979 missense variant G/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0