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: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1555397413
rs1555397413
FBN1
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1555398397
rs1555398397
FBN1
0.807 0.240 15 48485436 missense variant C/T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1555968941
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1565295267
rs1565295267
MYRF ; TMEM258
0.827 0.360 11 61774051 missense variant C/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs199564797
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		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: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs387907260
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs397515789
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs587782995
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs587783772
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs727503057
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs761857514
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs77078070
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0