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: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
11 64298178 missense variant G/A;C snv 7.0E-06
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: rs1565369746
rs1565369746
KCNK4 ; KCNK4-TEX40
11 64297507 missense variant C/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs61753219
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs113871094
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A 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: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
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: 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: 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: 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: rs1014959895
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
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: rs1251713297
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs138632121
rs138632121
HCFC1R1 ; THOC6
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04
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: 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: 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: rs1064795104
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 1.000 2 2013 2014
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