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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Epilepsy (D004827)
Parent Node: Periventricular Nodular Heterotopia (D054091)
..Starting node ..HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (OMIM:300049)
Child Nodes:
Sister Nodes:
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Heterotopia, Periventricular, associated with Chromosome 5p Anomalies (C564291)
..Heterotopia, Periventricular, Associated With Chromosome 5q Deletion (C567876)
..Heterotopia, Periventricular, Autosomal Recessive (C564292)
..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
..HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (OMIM:300049)
..Periventricular Laminar Heterotopia (C548481)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5166

Name:

HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT

Definition:

Alternative IDs:

ParentIDs:

MESH:D004827|MESH:D054091

TreeNumbers:

C10.228.140.490/300049 |C10.500.507.450.750/300049 |C16.131.666.507.450.750/300049

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: 300049
MeSH: 300049
OMIM: 300049;

Genes: FLNA;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0002269	Abnormality of neuronal migration
3	HP:0003256	Abnormality of the coagulation cascade
4	HP:0001647	Bicuspid aortic valve
5	HP:0002282	Gray matter heterotopia
6	HP:0001256	Intellectual disability, mild
7	HP:0001643	Patent ductus arteriosus
8	HP:0001250	Seizure
9	HP:0001297	Stroke

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001110556.1(FLNA):c.7896G>A (p.Trp2632Ter)	2316	FLNA	Pathogenic	398122812	RCV000022819;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153577265	153577265	NM_001110556.1:c.7896G>A	NP_001104026.1:p.Trp2632Ter	NC_000023.10:g.153577265C>T	OMIM Allelic Variant:300017.0034	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.7757-1G>C	2316	FLNA	Pathogenic	797044496	RCV000178620; RCV000153246;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153577405	153577405	NM_001110556.1:c.7757-1G>C		NC_000023.10:g.153577405C>G	-	C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.7153C>T (p.Gln2385Ter)	2316	FLNA	Pathogenic	727503931	RCV000178520; RCV000178521; RCV000153250;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153579280	153579280	NM_001110556.1:c.7153C>T	NP_001104026.1:p.Gln2385Ter	NC_000023.10:g.153579280G>A	-	CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia
NM_001456.3(FLNA):c.7035T>G (p.Phe2345Leu)	2316	FLNA	Uncertain significance	864622713	RCV000204164;	N	MedGen:C0025237,OMIM:309350,ORPHA:2484,SNOMED CT:13449007; MedGen:C0265293,OMIM:305620,ORPHA:1826,SNOMED CT:62803002; MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153579374	153579374	NM_001456.3:c.7035T>G	NP_001447.2:p.Phe2345Leu		-	C0265293 305620 Frontometaphyseal dysplasia; C0025237 309350 Melnick-Needles syndrome; C1844696 304120 Oto-palato-digital syndrome, type II; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.6915C>G (p.Tyr2305Ter)	2316	FLNA	Pathogenic	781910090	RCV000012519;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153580057	153580057	NM_001110556.1:c.6915C>G	NP_001104026.1:p.Tyr2305Ter	NC_000023.10:g.153580057G>C	OMIM Allelic Variant:300017.0007	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=)	2316	FLNA	Benign;Likely benign	113510895	RCV000079709; RCV000205572;	N	MedGen:C0025237,OMIM:309350,ORPHA:2484,SNOMED CT:13449007; MedGen:C0265293,OMIM:305620,ORPHA:1826,SNOMED CT:62803002; MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN169374	X	153580576	153580576	NM_001110556.1:c.6742C>T	NP_001104026.1:p.Leu2248=	NC_000023.10:g.153580576G>A	-	C0265293 305620 Frontometaphyseal dysplasia; C0025237 309350 Melnick-Needles syndrome; CN169374 not specified; C1844696 304120 Oto-palato-digital syndrome, type II; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.6635_6638delTCAG (p.Val2212Alafs)	2316	FLNA	Pathogenic	786205178	RCV000170398; RCV000199583;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153580680	153580683	NM_001110556.1:c.6635_6638delTCAG	NP_001104026.1:p.Val2212Alafs	NC_000023.10:g.153580680_153580683delCTGA	-	CN221809 not provided; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.6580G>T (p.Glu2194Ter)	2316	FLNA	Likely pathogenic	786205202	RCV000170424;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153580738	153580738	NM_001110556.1:c.6580G>T	NP_001104026.1:p.Glu2194Ter	NC_000023.10:g.153580738C>A	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.6355_6356delAA (p.Lys2119Valfs)	2316	FLNA	Pathogenic	786205201	RCV000170423;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153581163	153581164	NM_001110556.1:c.6355_6356delAA	NP_001104026.1:p.Lys2119Valfs	NC_000023.10:g.153581163_153581164delTT	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.5854delG (p.Val1952Serfs)	2316	FLNA	Pathogenic	797044724	RCV000177836; RCV000177835;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153581928	153581928	NM_001110556.1:c.5854delG	NP_001104026.1:p.Val1952Serfs	NC_000023.10:g.153581928delC	-	C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.5132_5133delTCinsAA (p.Phe1711Ter)	2316	FLNA	Pathogenic	398123621	RCV000177454; RCV000177455; RCV000079701;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153583277	153583278	NM_001110556.1:c.5132_5133delTCinsAA	NP_001104026.1:p.Phe1711Ter	NC_000023.10:g.153583277_153583278delGAinsTT	-	CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.5021_5022delTG (p.Val1674Glyfs)	2316	FLNA	Likely pathogenic	786205199	RCV000170421;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153583388	153583389	NM_001110556.1:c.5021_5022delTG	NP_001104026.1:p.Val1674Glyfs	NC_000023.10:g.153583388_153583389delCA	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.4943delC (p.Thr1648Lysfs)	2316	FLNA	Likely pathogenic	786205198	RCV000170420;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153585804	153585804	NM_001110556.1:c.4943delC	NP_001104026.1:p.Thr1648Lysfs	NC_000023.10:g.153585804delG	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.4935C>A (p.Cys1645Ter)	2316	FLNA	Likely pathogenic	786205197	RCV000170419;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153585812	153585812	NM_001110556.1:c.4935C>A	NP_001104026.1:p.Cys1645Ter	NC_000023.10:g.153585812G>T	-	C1848213 300049 X-linked periventricular heterotopia
NM_001456.3(FLNA):c.4777_4778dupAA (p.Thr1594Argfs)	2316	FLNA	Pathogenic	786200973	RCV000176923; RCV000176924; RCV000153252;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153585969	153585970	NM_001456.3:c.4777_4778dupAA	NP_001447.2:p.Thr1594Argfs	NC_000023.10:g.153585968_153585969insTT,NC_000023.10:g.153585969_153585970dupTT	-	CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.4617_4618delGC (p.Leu1540Alafs)	2316	FLNA	Likely pathogenic	786205194	RCV000170416;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153586704	153586705	NM_001110556.1:c.4617_4618delGC	NP_001104026.1:p.Leu1540Alafs	NC_000023.10:g.153586704_153586705delGC	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.4543C>T (p.Arg1515Ter)	2316	FLNA	Pathogenic	186214592	RCV000176727; RCV000176728; RCV000079699;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153586868	153586868	NM_001110556.1:c.4543C>T	NP_001104026.1:p.Arg1515Ter	NC_000023.10:g.153586868G>A	HGMD:CM067669	CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg)	2316	FLNA	Likely benign;Uncertain significance	200130356	RCV000170415; RCV000193523;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN169374	X	153587375	153587375	NM_001110556.1:c.4451A>G	NP_001104026.1:p.Gln1484Arg	NC_000023.10:g.153587375T>C	-	CN169374 not specified; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.4447_4448insAT (p.Leu1483Tyrfs)	2316	FLNA	Pathogenic	398123620	RCV000176639; RCV000170414; RCV000079698;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153587378	153587379	NM_001110556.1:c.4447_4448insAT	NP_001104026.1:p.Leu1483Tyrfs	NC_000023.10:g.153587378_153587379insAT	-	CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.4269_4277delCCTCAACGTinsTGGC (p.Leu1424Glyfs)	2316	FLNA	Pathogenic	797044690	RCV000176540;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153587640	153587648	NM_001110556.1:c.4269_4277delCCTCAACGTinsTGGC	NP_001104026.1:p.Leu1424Glyfs	NC_000023.10:g.153587640_153587648delACGTTGAGGinsGCCA	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.4147delG (p.Ala1383Leufs)	2316	FLNA	Pathogenic	863223299	RCV000012530;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153587770	153587770	NM_001110556.1:c.4147delG	NP_001104026.1:p.Ala1383Leufs	NC_000023.10:g.153587770delC	OMIM Allelic Variant:300017.0018	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.4060G>A (p.Asp1354Asn)	2316	FLNA	Uncertain significance	377390031	RCV000170413; RCV000195731;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN169374	X	153587934	153587934	NM_001110556.1:c.4060G>A	NP_001104026.1:p.Asp1354Asn	NC_000023.10:g.153587934C>T	-	CN169374 not specified; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.4006delG (p.Asp1336Thrfs)	2316	FLNA	Likely pathogenic	786205191	RCV000170412;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153587988	153587988	NM_001110556.1:c.4006delG	NP_001104026.1:p.Asp1336Thrfs	NC_000023.10:g.153587988delC	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.3980-5_3990dup16	2316	FLNA	Likely pathogenic	786205190	RCV000170411;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153588004	153588019	NM_001110556.1:c.3980-5_3990dup16		NC_000023.10:g.153588004_153588019dup16	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.3875_3888dupACGTCAAGGCCCGT (p.Val1297Thrfs)	2316	FLNA	Likely pathogenic	786205189	RCV000170410;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153588191	153588204	NM_001110556.1:c.3875_3888dupACGTCAAGGCCCGT	NP_001104026.1:p.Val1297Thrfs	NC_000023.10:g.153588191_153588204dupACGGGCCTTGACGT	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.3529delG (p.Glu1177Argfs)	2316	FLNA	Likely pathogenic	786205188	RCV000170409;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153588634	153588634	NM_001110556.1:c.3529delG	NP_001104026.1:p.Glu1177Argfs	NC_000023.10:g.153588634delC	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.3153dupC (p.Val1052Argfs)	2316	FLNA	Pathogenic	398123616	RCV000176184; RCV000176183; RCV000079692;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153589730	153589730	NM_001110556.1:c.3153dupC	NP_001104026.1:p.Val1052Argfs	NC_000023.10:g.153589730dupG	-	CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.2761C>T (p.Arg921Ter)	2316	FLNA	Pathogenic	398123614	RCV000175416; RCV000175417; RCV000079689;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153590412	153590412	NM_001110556.1:c.2761C>T	NP_001104026.1:p.Arg921Ter	NC_000023.10:g.153590412G>A	-	CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.2565+1G>C	2316	FLNA	Pathogenic	786205186	RCV000170407;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153590785	153590785	NM_001110556.1:c.2565+1G>C		NC_000023.10:g.153590785C>G	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.2023-6C>T	2316	FLNA	Uncertain significance	372021340	RCV000170406;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153592746	153592746	NM_001110556.1:c.2023-6C>T		NC_000023.10:g.153592746G>A	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.1966C>T (p.Leu656Phe)	2316	FLNA	Pathogenic	137853311	RCV000012518;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153592950	153592950	NM_001110556.1:c.1966C>T	NP_001104026.1:p.Leu656Phe	NC_000023.10:g.153592950G>A	OMIM Allelic Variant:300017.0006	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.1923C>T (p.Gly641=)	2316	FLNA	Pathogenic	80338841	RCV000020423; RCV000012536;	N	MedGen:C0262436,OMIM:314400,ORPHA:1864; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153592993	153592993	NM_001110556.1:c.1923C>T	NP_001104026.1:p.Gly641=	NC_000023.10:g.153592993G>A	OMIM Allelic Variant:300017.0024	C0262436 314400 Cardiac valvular dysplasia, X-linked; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.1850C>T (p.Ser617Leu)	2316	FLNA	Uncertain significance	782193139	RCV000170405;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153593066	153593066	NM_001110556.1:c.1850C>T	NP_001104026.1:p.Ser617Leu	NC_000023.10:g.153593066G>A	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.1829-2A>G	2316	FLNA	Pathogenic	786205183	RCV000170404;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153593089	153593089	NM_001110556.1:c.1829-2A>G		NC_000023.10:g.153593089T>C	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.1722T>A (p.Cys574Ter)	2316	FLNA	Likely pathogenic	786205182	RCV000170403;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153593295	153593295	NM_001110556.1:c.1722T>A	NP_001104026.1:p.Cys574Ter	NC_000023.10:g.153593295A>T	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.1430-1G>T	2316	FLNA	Pathogenic	786205177	RCV000170397;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153593855	153593855	NM_001110556.1:c.1430-1G>T		NC_000023.10:g.153593855C>A	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.1429+8C>T	2316	FLNA	Benign;Likely benign;Uncertain significance	202181557	RCV000170402; RCV000079687;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN169374	X	153594384	153594384	NM_001110556.1:c.1429+8C>T		NC_000023.10:g.153594384G>A	-	CN169374 not specified; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.1061_1065delATAAG (p.His354Argfs)	2316	FLNA	Likely pathogenic	786205180	RCV000170400;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153594930	153594934	NM_001110556.1:c.1061_1065delATAAG	NP_001104026.1:p.His354Argfs	NC_000023.10:g.153594930_153594934delCTTAT	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.1045G>T (p.Glu349Ter)	2316	FLNA	Likely pathogenic	370490152	RCV000170399;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153594950	153594950	NM_001110556.1:c.1045G>T	NP_001104026.1:p.Glu349Ter	NC_000023.10:g.153594950C>A	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.987+1G>A	2316	FLNA	Likely pathogenic	786205204	RCV000170426;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153595099	153595099	NM_001110556.1:c.987+1G>A		NC_000023.10:g.153595099C>T	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.760G>A (p.Glu254Lys)	2316	FLNA	Pathogenic	28935470	RCV000178843; RCV000012522; RCV000178844; RCV000079711;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153595873	153595873	NM_001110556.1:c.760G>A	NP_001104026.1:p.Glu254Lys	NC_000023.10:g.153595873C>T	HGMD:CM030666,OMIM Allelic Variant:300017.0010	CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1844696 304120 Oto-palato-digital syndrome, type II; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.732dupC (p.Glu245Argfs)	2316	FLNA	Likely pathogenic	786205203	RCV000170425;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153595901	153595901	NM_001110556.1:c.732dupC	NP_001104026.1:p.Glu245Argfs	NC_000023.10:g.153595901dupG	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.720+2T>C	2316	FLNA	Pathogenic	863223295	RCV000012514;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153596007	153596007	NM_001110556.1:c.720+2T>C		NC_000023.10:g.153596007A>G	OMIM Allelic Variant:300017.0002	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.623-3C>G	2316	FLNA	Pathogenic;Uncertain significance	398123622	RCV000012515; RCV000079706;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153596109	153596109	NM_001110556.1:c.623-3C>G		NC_000023.10:g.153596109G>C	OMIM Allelic Variant:300017.0003	CN221809 not provided; C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.623-20_623-12del	2316	FLNA	Uncertain significance	786205200	RCV000170422;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153596118	153596126	NM_001110556.1:c.623-20_623-12del		NC_000023.10:g.153596118_153596126delGGGAGGCTG	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.544C>T (p.Gln182Ter)	2316	FLNA	Pathogenic	137853310	RCV000012513;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153596288	153596288	NM_001110556.1:c.544C>T	NP_001104026.1:p.Gln182Ter	NC_000023.10:g.153596288G>A	OMIM Allelic Variant:300017.0001	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.383C>T (p.Ala128Val)	2316	FLNA	Pathogenic	137853315	RCV000012533;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153596449	153596449	NM_001110556.1:c.383C>T	NP_001104026.1:p.Ala128Val	NC_000023.10:g.153596449G>A	OMIM Allelic Variant:300017.0021	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.373+1G>A	2316	FLNA	Pathogenic	863223296	RCV000012516;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153599240	153599240	NM_001110556.1:c.373+1G>A		NC_000023.10:g.153599240C>T	OMIM Allelic Variant:300017.0004	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.287_291delGGCCC (p.Arg96Hisfs)	2316	FLNA	Pathogenic	863223297	RCV000012517;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153599323	153599327	NM_001110556.1:c.287_291delGGCCC	NP_001104026.1:p.Arg96Hisfs	NC_000023.10:g.153599323_153599327delGGGCC	OMIM Allelic Variant:300017.0005	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.245A>T (p.Glu82Val)	2316	FLNA	Pathogenic	28935169	RCV000012520;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153599369	153599369	NM_001110556.1:c.245A>T	NP_001104026.1:p.Glu82Val	NC_000023.10:g.153599369T>A	OMIM Allelic Variant:300017.0008	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.137delA (p.Gln46Argfs)	2316	FLNA	Likely pathogenic	786205181	RCV000170401;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153599477	153599477	NM_001110556.1:c.137delA	NP_001104026.1:p.Gln46Argfs	NC_000023.10:g.153599477delT	-	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.116C>G (p.Ala39Gly)	2316	FLNA	Pathogenic	137853313	RCV000012531;	N	MedGen:C1848213,OMIM:300049,SNOMED CT:448227009	X	153599498	153599498	NM_001110556.1:c.116C>G	NP_001104026.1:p.Ala39Gly	NC_000023.10:g.153599498G>C	OMIM Allelic Variant:300017.0019	C1848213 300049 X-linked periventricular heterotopia
NM_001110556.1(FLNA):c.42delC (p.Ala15Argfs)	2316	FLNA	Pathogenic	398123619	RCV000175695; RCV000175696; RCV000079697;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809	X	153599572	153599572	NM_001110556.1:c.42delC	NP_001104026.1:p.Ala15Argfs	NC_000023.10:g.153599572delG	-	CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia