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: rs1553538917
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1553763618
rs1553763618
POLR3GL
0.925 0.040 1 145977482 splice acceptor variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
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: rs181109321
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs200426926
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
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: rs374993554
rs374993554
TAF6
0.925 7 100113899 missense variant A/G;T snv 3.2E-05
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