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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: Craniofacial Abnormalities (D019465)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Oto-Palato-digital syndrome type 1 (C536065)
Child Nodes:
Sister Nodes:
..Achondrogenesis (C579878)
..Achondroplasia (D000130) 21
..Acquired Hyperostosis Syndrome (D020083)
..Acrodysostosis (C538179)
..Acrodysplasia scoliosis (C538180)
..Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
..Acromesomelic dysplasia (C535658) 1
..Acromesomelic dysplasia Campailla-Martinelli type (C535659)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Akaba Hayasaka syndrome (C535609)
..Anauxetic dysplasia (C538256)
..Atelosteogenesis type 2 (C535395)
..Atelosteogenesis Type 3 (C579928)
..Atelosteogenesis, type 1 (C535396)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..Auriculoosteodysplasia (C538271)
..Boomerang dysplasia (C536573)
..Brachyolmia (C537098)
..Brachyolmia Type 2 (C563218)
..Brachyolmia Type 3 (C562963)
..Brachyolmia, recessive Hobaek type (C537099)
..Camurati-Engelmann Syndrome (D003966) 4
..Cantu syndrome (C535572)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..Chondrodysplasia Calcificans Metaphysealis (C565855)
..Chondrodysplasia Punctata (D002806) 13
..Chondrodysplasia, blomstrand type (C537914)
..Chondrodysplasia, Grebe type (C537915)
..Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..Cleidocranial Dysplasia (D002973) 5
..Cleidorhizomelic syndrome (C536428)
..Cloverleaf skull micromelia thoracic dysplasia (C536429)
..CODAS syndrome (C536434)
..Collagenopathy, type 2 alpha 1 (C535964)
..Coloboma of Alar-nasal cartilages with telecanthus (C535967)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Craniodiaphyseal Dysplasia (C562940)
..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..Czech dysplasia, metatarsal type (C535766)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyschondrosteosis and Nephritis (C565080)
..Eiken Skeletal Dysplasia (C564010)
..Ellis-Van Creveld Syndrome (D004613) 6
..Enchondromatosis (D004687)
..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..Epiphyseal Dysplasia, Baumann Type (C563664)
..Epiphyseal dysplasia, multiple, 1 (C535501)
..Epiphyseal dysplasia, multiple, 2 (C535502)
..Epiphyseal dysplasia, multiple, 3 (C535503)
..Epiphyseal dysplasia, multiple, 4 (C535504)
..Epiphyseal dysplasia, multiple, 5 (C535505)
..Epiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
..Fairbank disease (C536393)
..Faye-Petersen Ward Carey syndrome (C537076)
..Fibrous Dysplasia of Bone (D005357) 9
..Fraser Jequier Chen syndrome (C535481)
..Frontometaphyseal dysplasia (C538064)
..Frontootopalatodigital Osteodysplasia (C567578)
..Ghosal Hematodiaphyseal Dysplasia (C565551)
..HEM dysplasia (C535858) 1
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Hip Dysplasia, Beukes Type (C564185)
..Hyperostosis Frontalis Interna (D006957) 1
..Hyperostosis, Cortical, Congenital (D006958) 6
..Hypochondrogenesis (C563007)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Jansen type metaphyseal chondrodysplasia (C537564)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Kashin-Beck Disease (D057767)
..Kniest dysplasia (C537207)
..Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
..Kozlowski Tsuruta Taki syndrome (C537510)
..Langer mesomelic dysplasia (C537267)
..Langer-Giedion Syndrome (D015826) 2
..Laplane Fontaine Lagardere syndrome (C537869)
..Larsen Syndrome (C580241)
..Larsen syndrome, dominant type (C537873)
..Larsen-Like Syndrome (C563914)
..Leri-Weil syndrome (C537119)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Lowry Wood syndrome (C537038)
..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..Madelung Deformity (C562398)
..Marshall syndrome (C536025)
..Megaepiphyseal dwarfism (C536140) 1
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..Mesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..Mesomelic Dysplasia, Savarirayan Type (C565349)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Metaphyseal chondrodysplasia Schmid type (C537352)
..Metaphyseal chondrodysplasia Spahr type (C537353)
..Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Metaphyseal Chondrodysplasia, Kaitila Type (C565400)
..Metaphyseal Chondrodysplasia, Pena Type (C565399)
..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..Metaphyseal Dysplasia without Hypotrichosis (C563574)
..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..Metaphyseal Dysplasia, Braun-Tinschert Type (C565271)
..Metaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
..Metatropic dwarfism (C537356)
..Metatropic Dwarfism, Type II (C581628)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephaly-Micromelia Syndrome (C565382)
..Micromelic dwarfism Fryns type (C537556)
..Micromelic dysplasia, congenital, with dislocation of radius (C537557)
..Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Nievergelt syndrome (C536120)
..Nivelon Nivelon Mabille syndrome (C536123)
..Omodysplasia 2 (C567664)
..Omodysplasia type 1 (C537746)
..Opsismodysplasia (C537122)
..Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
..Osteoarthritis with Mild Chondrodysplasia (C565740)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Osteochondroma (D015831) 17
..Osteodysplasia, Familial, Anderson Type (C564923)
..Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
..Osteogenesis Imperfecta (D010013) 27
..Osteoglophonic dwarfism (C536050)
..Osteosclerosis (D010026) 36
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otopalatodigital Spectrum Disorder (C567577)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
..Pelvis-Shoulder Dysplasia (C566811)
..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
..Polydysspondyly (C565150)
..Pubic Bone Dysplasia (C566735)
..Pycnodysostosis (D058631)
..Pyle disease (C536252)
..Roifman syndrome (C535866)
..Schaefer Stein Oshman syndrome (C536627)
..Schimke immunoosseous dysplasia (C536629)
..Schneckenbecken dysplasia (C536637)
..Short Rib-Polydactyly Syndrome (D012779) 3
..Short stature syndrome, Brussels type (C537121)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Slipped Capital Femoral Epiphyses (D060048)
..Smith-McCort Dysplasia (C564589)
..Spinal Dysplasia, Anhalt Type (C563348)
..Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
..Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
..Spondylodysplasia And Premature Pubarche (C567552)
..Spondyloenchondrodysplasia (C535782)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Spondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..Spondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Spondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
..Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
..Spondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
..Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
..Spondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
..Spondyloepimetaphyseal dysplasia, sponastrime type (C535786)
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
..Spondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
..Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Spondyloepiphyseal dysplasia, congenita (C535788)
..Spondyloepiphyseal Dysplasia, Kimberley Type (C564252)
..SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Spondyloepiphyseal dysplasia, Omani type (C535789) 1
..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
..Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
..Spondylometaphyseal dysplasia, Algerian type (C535794)
..Spondylometaphyseal dysplasia, axial (C535795)
..Spondylometaphyseal dysplasia, east-African type (C535796)
..Spondylometaphyseal dysplasia, Kozlowski type (C535797)
..Spondylometaphyseal dysplasia, Sedaghatian type (C535798)
..Spondylometaphyseal Dysplasia, Type A4 (C563803)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
..Spondyloperipheral dysplasia short ulna (C535799)
..Spondylospinal Thoracic Dysostosis (C566622)
..Strudwick syndrome (C537501)
..Stuve-Wiedemann syndrome (C537502)
..Teebi Naguib Al Awadi syndrome (C536949)
..Ter Haar syndrome (C537274)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Thoracolaryngopelvic dysplasia (C536517)
..Tracheobronchopathia osteoplastica (C536977)
..Trichoscyphodysplasia (C536557)
..Ulna metaphyseal dysplasia syndrome (C536935)
..Upington disease (C536472)
..Van Buchem disease type 2 (C536527)
..Verloes Bourguignon syndrome (C536538)
..Verloes Van Maldergem Marneffe syndrome (C536540)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Wolcott-Rallison syndrome (C536739)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8466

Name:

Oto-Palato-digital syndrome type 1

Definition:

Alternative IDs:

OMIM:311300

ParentIDs:

MESH:D006228|MESH:D010009|MESH:D019465

TreeNumbers:

C05.116.099.708/C536065 |C05.390.408/C536065 |C05.660.207/C536065 |C05.660.585.988.425/C536065 |C16.131.621.207/C536065 |C16.131.621.585.425/C536065

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C536065
MeSH: C536065
OMIM: 311300;

Genes: FLNA;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0008089	Abnormality of the fifth metatarsal bone
3	HP:0002688	Absent frontal sinuses
4	HP:0004232	Accessory carpal bones
5	HP:0008127	Bipartite calcaneus
6	HP:0009642	Broad distal phalanx of the thumb
7	HP:0010055	Broad hallux
8	HP:0001782	Bulbous tips of toes
9	HP:0001241	Capitate-hamate fusion
10	HP:0000175	Cleft palate
11	HP:0000405	Conductive hearing impairment
12	HP:0002673	Coxa valga
13	HP:0001476	Delayed closure of the anterior fontanelle
14	HP:0003083	Dislocated radial head
15	HP:0000494	Downslanted palpebral fissures
16	HP:0012368	Flat face
17	HP:0002007	Frontal bossing
18	HP:0002827	Hip dislocation
19	HP:0000316	Hypertelorism
20	HP:0001256	Intellectual disability, mild
21	HP:0005090	Lateral femoral bowing
22	HP:0001377	Limited elbow extension
23	HP:0006389	Limited knee flexion
24	HP:0000272	Malar flattening
25	HP:0001571	Multiple impacted teeth
26	HP:0002164	Nail dysplasia
27	HP:0008404	Nail dystrophy
28	HP:0000160	Narrow mouth
29	HP:0001539	Omphalocele
30	HP:0000767	Pectus excavatum
31	HP:0000269	Prominent occiput
32	HP:0000336	Prominent supraorbital ridges
33	HP:0001852	Sandal gap
34	HP:0002650	Scoliosis
35	HP:0001592	Selective tooth agenesis
36	HP:0010041	Short 3rd metacarpal
37	HP:0010044	Short 4th metacarpal
38	HP:0010047	Short 5th metacarpal
39	HP:0009882	Short distal phalanx of finger
40	HP:0010109	Short hallux
41	HP:0003196	Short nose
42	HP:0004322	Short stature
43	HP:0005048	Synostosis of carpal bones
44	HP:0002737	Thick skull base
45	HP:0001770	Toe syndactyly
46	HP:0000431	Wide nasal bridge

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.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_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_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.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.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.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.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.620C>T (p.Pro207Leu)	2316	FLNA	Pathogenic	28935469	RCV000012521;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001	X	153596212	153596212	NM_001110556.1:c.620C>T	NP_001104026.1:p.Pro207Leu	NC_000023.10:g.153596212G>A	OMIM Allelic Variant:300017.0009	C0265251 311300 Oto-palato-digital syndrome, type I
NM_001110556.1(FLNA):c.607G>T (p.Asp203Tyr)	2316	FLNA	Pathogenic	137853314	RCV000012532;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001	X	153596225	153596225	NM_001110556.1:c.607G>T	NP_001104026.1:p.Asp203Tyr	NC_000023.10:g.153596225C>A	OMIM Allelic Variant:300017.0020	C0265251 311300 Oto-palato-digital syndrome, type I
NM_001110556.1(FLNA):c.586C>T (p.Arg196Trp)	2316	FLNA	Pathogenic;Uncertain significance	137853317	RCV000012538; RCV000012539; RCV000153245;	N	MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003; MedGen:CN221809	X	153596246	153596246	NM_001110556.1:c.586C>T	NP_001104026.1:p.Arg196Trp	NC_000023.10:g.153596246G>A	HGMD:CM030663,OMIM Allelic Variant:300017.0026	CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1844696 304120 Oto-palato-digital syndrome, type II
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