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: 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
dbSNP: rs1060500716
rs1060500716
FLNA
0.851 0.120 X 154360127 missense variant G/A snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 0
dbSNP: rs1060500716
rs1060500716
FLNA
0.851 0.120 X 154360127 missense variant G/A snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 0
dbSNP: rs1060500716
rs1060500716
FLNA
0.851 0.120 X 154360127 missense variant G/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1060500716
rs1060500716
FLNA
0.851 0.120 X 154360127 missense variant G/A snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 0
dbSNP: rs1060500717
rs1060500717
FLNA
1.000 0.080 X 154352226 stop gained G/A;C snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1060500718
rs1060500718
FLNA
0.851 0.120 X 154353329 frameshift variant AG/- del
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 0
dbSNP: rs1060500718
rs1060500718
FLNA
0.851 0.120 X 154353329 frameshift variant AG/- del
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 0
dbSNP: rs1060500718
rs1060500718
FLNA
0.851 0.120 X 154353329 frameshift variant AG/- del
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 0
dbSNP: rs1060500718
rs1060500718
FLNA
0.851 0.120 X 154353329 frameshift variant AG/- del
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs112363874
rs112363874
FLNA
1.000 0.080 X 154352449 splice acceptor variant T/A;G snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs137853310
rs137853310
FLNA
0.925 0.080 X 154367920 stop gained G/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs137853310
rs137853310
FLNA
0.925 0.080 X 154367920 stop gained G/A snv
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 0
dbSNP: rs137853316
rs137853316
FLNA
0.851 0.160 X 154354860 missense variant C/A snv
CUI: C2748918
Disease: Otopalatodigital Spectrum Disorder
Otopalatodigital Spectrum Disorder 		0.700 0
dbSNP: rs1461148946
rs1461148946
FLNA
X 154354979 missense variant A/C snv 9.3E-06
CUI: C1968958
Disease: Subependymal nodules
Subependymal nodules 		0.700 0
dbSNP: rs1461148946
rs1461148946
FLNA
X 154354979 missense variant A/C snv 9.3E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1461148946
rs1461148946
FLNA
X 154354979 missense variant A/C snv 9.3E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1557175789
rs1557175789
FLNA
1.000 0.040 X 154351577 splice region variant T/A snv
CUI: C0151942
Disease: Arterial thrombosis
Arterial thrombosis 		0.700 0
dbSNP: rs1557175789
rs1557175789
FLNA
1.000 0.040 X 154351577 splice region variant T/A snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		0.700 0
dbSNP: rs1557175789
rs1557175789
FLNA
1.000 0.040 X 154351577 splice region variant T/A snv
CUI: C3279191
Disease: Arterial tortuosity
Arterial tortuosity 		0.700 0
dbSNP: rs1557177086
rs1557177086
FLNA
0.851 0.120 X 154357527 frameshift variant GTGTAGCGACCTG/- delins
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 0
dbSNP: rs1557177086
rs1557177086
FLNA
0.851 0.120 X 154357527 frameshift variant GTGTAGCGACCTG/- delins
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 0
dbSNP: rs1557177086
rs1557177086
FLNA
0.851 0.120 X 154357527 frameshift variant GTGTAGCGACCTG/- delins
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 0
dbSNP: rs1557177086
rs1557177086
FLNA
0.851 0.120 X 154357527 frameshift variant GTGTAGCGACCTG/- delins
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1557177279
rs1557177279
FLNA
0.851 0.120 X 154358440 splice donor variant TTACCTCC/- delins
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 0