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: rs1557194525
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs727503030
rs727503030
ELN
0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs869312687
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1553630457
rs1553630457
TGFBR2
0.882 0.240 3 30674231 missense variant T/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2017 2017
dbSNP: rs369634007
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2016 2016
dbSNP: rs797045141
rs797045141
HERC1
0.882 0.160 15 63696341 splice acceptor variant T/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2016 2016
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
0.882 0.120 2 178577785 stop gained G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1554236040
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1555380716
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1555932766
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs387906819
rs387906819
GATA6
0.882 0.120 18 22181517 missense variant G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs749203329
rs749203329
MLLT1
0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs121913375
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1554317931
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1554846212
rs1554846212
KAT6B ; DUPD1
0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1565706229
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs397507539
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs397507540
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1554496813
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0