Source: ALL

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: rs137853317
rs137853317
FLNA
0.827 0.120 X 154367878 missense variant G/A snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 1.000 3 2003 2007
dbSNP: rs1557176315
rs1557176315
FLNA
0.851 0.120 X 154353914 splice donor variant C/G snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 1.000 3 2006 2015
dbSNP: rs1557176315
rs1557176315
FLNA
0.851 0.120 X 154353914 splice donor variant C/G snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 1.000 3 2006 2015
dbSNP: rs1557176315
rs1557176315
FLNA
0.851 0.120 X 154353914 splice donor variant C/G snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 1.000 3 2006 2015
dbSNP: rs1557176315
rs1557176315
FLNA
0.851 0.120 X 154353914 splice donor variant C/G snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 1.000 3 2006 2015
dbSNP: rs1557177485
rs1557177485
FLNA
0.851 0.120 X 154359407 splice acceptor variant C/A snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 1.000 3 2006 2015
dbSNP: rs1557177485
rs1557177485
FLNA
0.851 0.120 X 154359407 splice acceptor variant C/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 1.000 3 2006 2015
dbSNP: rs1557177485
rs1557177485
FLNA
0.851 0.120 X 154359407 splice acceptor variant C/A snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 1.000 3 2006 2015
dbSNP: rs1557177485
rs1557177485
FLNA
0.851 0.120 X 154359407 splice acceptor variant C/A snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 1.000 3 2006 2015
dbSNP: rs782611953
rs782611953
FLNA
1.000 0.080 X 154365163 missense variant G/A;C;T snv 1.1E-05; 5.5E-06; 5.5E-06
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 1.000 3 2003 2016
dbSNP: rs786205186
rs786205186
FLNA
0.827 0.120 X 154362417 splice donor variant C/G;T snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 1.000 3 2006 2015
dbSNP: rs786205186
rs786205186
FLNA
0.827 0.120 X 154362417 splice donor variant C/G;T snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 1.000 3 2006 2015
dbSNP: rs786205186
rs786205186
FLNA
0.827 0.120 X 154362417 splice donor variant C/G;T snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 1.000 3 2006 2015
dbSNP: rs786205186
rs786205186
FLNA
0.827 0.120 X 154362417 splice donor variant C/G;T snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 1.000 3 2006 2015
dbSNP: rs797045044
rs797045044
FLNA
0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 1.000 2 2016 2016
dbSNP: rs797045044
rs797045044
FLNA
0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 1.000 2 2016 2016
dbSNP: rs797045044
rs797045044
FLNA
0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 1.000 2 2016 2016
dbSNP: rs797045044
rs797045044
FLNA
0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 1.000 2 2016 2016
dbSNP: rs80338837
rs80338837
FLNA
1.000 0.080 X 154360243 missense variant G/T snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 1.000 2 2003 2016
dbSNP: rs137853319
rs137853319
FLNA
0.925 0.160 X 154359839 missense variant G/A snv 2.7E-04 2.3E-04
CUI: C1845902
Disease: FG SYNDROME 2
FG SYNDROME 2 		0.700 1.000 1 2007 2007
dbSNP: rs1557175424
rs1557175424
FLNA
0.925 0.080 X 154350030 splice donor variant C/T snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 1.000 1 2018 2018
dbSNP: rs1557175424
rs1557175424
FLNA
0.925 0.080 X 154350030 splice donor variant C/T snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.700 1.000 1 2018 2018
dbSNP: rs267606815
rs267606815
FLNA
0.925 0.200 X 154364638 missense variant G/A;T snv 5.5E-06
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked 		0.700 1.000 1 2007 2007
dbSNP: rs797045044
rs797045044
FLNA
0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06
CUI: C0268341
Disease: Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 5 		0.700 1.000 1 2016 2016
dbSNP: rs1057516198
rs1057516198
FLNA
1.000 0.080 X 154359008 stop gained G/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0