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: rs786205189
rs786205189
FLNA
1.000 0.080 X 154359822 frameshift variant -/ACGGGCCTTGACGT delins
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 0
dbSNP: rs398123620
rs398123620
FLNA
1.000 0.080 X 154359010 frameshift variant -/AT delins
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 0
dbSNP: rs786205203
rs786205203
FLNA
1.000 0.080 X 154367532 frameshift variant -/G delins
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 0
dbSNP: rs1557179357
rs1557179357
FLNA
0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 0
dbSNP: rs1557179357
rs1557179357
FLNA
0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 0
dbSNP: rs1557179357
rs1557179357
FLNA
0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1557179357
rs1557179357
FLNA
0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 0
dbSNP: rs786205190
rs786205190
FLNA
1.000 0.080 X 154359635 coding sequence variant -/TCCTGGAGGAGTGCAG delins
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		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: rs863223295
rs863223295
FLNA
1.000 0.080 X 154367639 splice donor variant A/G snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs267606817
rs267606817
FLNA
0.925 0.200 X 154364263 missense variant A/T snv
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked 		0.710 1.000 1 2007 2007
dbSNP: rs1557178535
rs1557178535
FLNA
0.851 0.120 X 154363633 intron variant A/T snv
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		0.700 0
dbSNP: rs1557178535
rs1557178535
FLNA
0.851 0.120 X 154363633 intron variant A/T snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1557178535
rs1557178535
FLNA
0.851 0.120 X 154363633 intron variant A/T snv
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 0
dbSNP: rs1557178535
rs1557178535
FLNA
0.851 0.120 X 154363633 intron variant A/T snv
CUI: C2746068
Disease: Congenital idiopathic intestinal pseudoobstruction
Congenital idiopathic intestinal pseudoobstruction 		0.700 0
dbSNP: rs267606817
rs267606817
FLNA
0.925 0.200 X 154364263 missense variant A/T snv
CUI: C0268341
Disease: Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 5 		0.700 0
dbSNP: rs786205182
rs786205182
FLNA
1.000 0.080 X 154364927 stop gained A/T snv
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 0
dbSNP: rs786205178
rs786205178
FLNA
1.000 0.080 X 154352312 frameshift variant ACTG/- delins
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		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: rs398122521
rs398122521
FLNA
0.925 0.080 X 154371227 frameshift variant AG/- delins
CUI: C3806579
Disease: CONGENITAL SHORT BOWEL SYNDROME, X-LINKED
CONGENITAL SHORT BOWEL SYNDROME, X-LINKED 		0.700 0