MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Hearing Loss, Conductive (D006314)
Parent Node: Hearing Loss, Sensorineural (D006319)
..Starting node ..Progressive hearing loss stapes fixation (C536424)
Child Nodes:
Sister Nodes:
..Acrootoocular Syndrome (C564866)
..Albinism ocular late onset sensorineural deafness (C537043)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Ataxia, Deafness, and Cardiomyopathy (C565932)
..Athabaskan brainstem dysgenesis (C535397)
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Auditory Neuropathy, Nonsyndromic Recessive (C563398)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..BADS Syndrome (C562663)
..Barakat syndrome (C537907)
..Bartter Syndrome, Type 4A (C566530)
..Bartter Syndrome, Type 4b (C567762)
..Bjornstad syndrome (C537633) L: 00084;
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Brown-Vialetto-Van Laere syndrome (C537111)
..CAPOS syndrome (C535351)
..Cardiomyopathy, Dilated, 1J (C565337)
..Cataract ataxia deafness (C538283)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..Cerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..Cerebellar Ataxia and Neurosensory Deafness (C565869)
..Cerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..Charcot-Marie-Tooth disease and deafness (C538078)
..Charcot-Marie-Tooth disease, Type 2J (C535417)
..Chitty Hall Baraitser syndrome (C535928)
..Chudley-Mccullough syndrome (C535459)
..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..Cochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..Coloboma, cleft lip-palate and mental retardation syndrome (C535971)
..Congenital ectodermal dysplasia with hearing loss (C535757)
..Corneal dystrophy and perceptive deafness (C535473)
..Cowchock syndrome (C536450)
..Craniofacial deafness hand syndrome (C536453)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness enamel hypoplasia nail defects (C535994)
..Deafness oligodontia syndrome (C538049)
..Deafness, Aminoglycoside-Induced (C564013) L: 00051;
..Deafness, Autosomal Dominant 1 (C565121)
..Deafness, Autosomal Dominant 10 (C563354)
..Deafness, Autosomal Dominant 11 (C563353)
..Deafness, Autosomal Dominant 12 (C563295)
..Deafness, Autosomal Dominant 13 (C566612)
..Deafness, Autosomal Dominant 15 (C566545)
..Deafness, Autosomal Dominant 16 (C565832)
..Deafness, Autosomal Dominant 18 (C565267)
..Deafness, Autosomal Dominant 20 (C565754)
..Deafness, Autosomal Dominant 21 (C564634)
..Deafness, Autosomal Dominant 23 (C565357)
..Deafness, Autosomal Dominant 24 (C565239)
..Deafness, Autosomal Dominant 25 (C565319)
..Deafness, Autosomal Dominant 28 (C563890)
..Deafness, Autosomal Dominant 2A (C567441)
..Deafness, Autosomal Dominant 2B (C567214)
..Deafness, Autosomal Dominant 30 (C564706)
..Deafness, Autosomal Dominant 31 (C563888)
..Deafness, Autosomal Dominant 36 (C564675)
..Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
..Deafness, Autosomal Dominant 3A (C567277)
..Deafness, Autosomal Dominant 3B (C567215)
..Deafness, Autosomal Dominant 4 (C563460)
..Deafness, Autosomal Dominant 41 (C564272)
..Deafness, Autosomal Dominant 43 (C564246)
..Deafness, Autosomal Dominant 44 (C564399)
..Deafness, Autosomal Dominant 47 (C563885)
..Deafness, Autosomal Dominant 48 (C564322)
..Deafness, Autosomal Dominant 49 (C564250)
..Deafness, Autosomal Dominant 5 (C563410)
..Deafness, Autosomal Dominant 52 (C564348)
..Deafness, Autosomal Dominant 53 (C566495)
..Deafness, Autosomal Dominant 59 (C567216)
..Deafness, Autosomal Dominant 6 (C563421)
..Deafness, Autosomal Dominant 7 (C563321)
..Deafness, Autosomal Dominant 9 (C563335)
..Deafness, autosomal dominant nonsyndromic sensorineural 17 (C538050)
..Deafness, autosomal dominant nonsyndromic sensorineural 22 (C538197)
..Deafness, autosomal dominant nonsyndromic sensorineural 23 (C538198)
..Deafness, autosomal dominant nonsyndromic sensorineural 24 (C538199)
..Deafness, Autosomal Recessive (C564609)
..Deafness, Autosomal Recessive 10 (C565341) 1
..Deafness, Autosomal Recessive 12 (C563327)
..Deafness, Autosomal Recessive 13 (C566410)
..Deafness, Autosomal Recessive 14 (C566344)
..Deafness, Autosomal Recessive 15 (C566611)
..Deafness, Autosomal Recessive 16 (C566339)
..Deafness, Autosomal Recessive 17 (C566418)
..Deafness, Autosomal Recessive 18 (C566580) 1
..Deafness, Autosomal Recessive 1A (C567134) L: 00489;
..Deafness, Autosomal Recessive 1b (C567213)
..Deafness, Autosomal Recessive 2 (C564007)
..Deafness, Autosomal Recessive 20 (C565828)
..Deafness, Autosomal Recessive 21 (C566353)
..Deafness, Autosomal Recessive 22 (C564633)
..Deafness, Autosomal Recessive 23 (C563705)
..Deafness, Autosomal Recessive 26 (C565329)
..Deafness, Autosomal Recessive 27 (C565287)
..Deafness, Autosomal Recessive 28 (C565218)
..Deafness, Autosomal Recessive 3 (C563961)
..Deafness, Autosomal Recessive 30 (C564624)
..Deafness, Autosomal Recessive 31 (C564629)
..Deafness, Autosomal Recessive 32 (C563884)
..Deafness, Autosomal Recessive 33 (C564602)
..Deafness, Autosomal Recessive 35 (C563908)
..Deafness, Autosomal Recessive 36 (C563815)
..Deafness, Autosomal Recessive 37 (C564331)
..Deafness, Autosomal Recessive 38 (C564273)
..Deafness, Autosomal Recessive 39 (C564265)
..Deafness, Autosomal Recessive 4 (C566366)
..Deafness, Autosomal Recessive 40 (C564266)
..Deafness, Autosomal Recessive 42 (C566460)
..Deafness, Autosomal Recessive 44 (C565716)
..Deafness, Autosomal Recessive 46 (C566459)
..Deafness, Autosomal Recessive 47 (C566498)
..Deafness, Autosomal Recessive 48 (C563720)
..Deafness, Autosomal Recessive 49 (C565717)
..Deafness, Autosomal Recessive 5 (C563444)
..Deafness, Autosomal Recessive 53 (C566453)
..Deafness, Autosomal Recessive 59 (C565698)
..Deafness, Autosomal Recessive 6 (C563418)
..Deafness, Autosomal Recessive 62 (C565719)
..Deafness, Autosomal Recessive 63 (C566951)
..Deafness, Autosomal Recessive 65 (C565211)
..Deafness, Autosomal Recessive 66 (C565701)
..Deafness, Autosomal Recessive 67 (C565207)
..Deafness, Autosomal Recessive 68 (C563669)
..Deafness, Autosomal Recessive 7 (C563417)
..Deafness, Autosomal Recessive 71 (C567562)
..Deafness, Autosomal Recessive 77 (C567543)
..Deafness, Autosomal Recessive 79 (C567651)
..Deafness, Autosomal Recessive 9 (C563396)
..Deafness, Autosomal Recessive, 24 (C567027)
..Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 (C563395) 1
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Deafness, Congenital, with Total Albinism (C565646)
..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
..Deafness, Mid-Tone Neural (C565122)
..Deafness, Progressive High-Tone Neural (C562423)
..Deafness, Sensorineural, And Male Infertility (C567010)
..Deafness, Sensorineural, Autosomal-Mitochondrial Type (C565637) L: 00159;
..Deafness, Sensorineural, with Hypertrophic Cardiomyopathy (C565236)
..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..Deafness, X-Linked 1 (C564433)
..Deafness, X-Linked 3 (C564727)
..Deafness, X-Linked 4 (C564723)
..Deafness, X-Linked 5 (C564472)
..Digitorenocerebral Syndrome (C563052)
..Donnai-Barrow syndrome (C536390)
..Ectodermal Dysplasia and Neurosensory Deafness (C565606)
..Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..Ermine phenotype (C535508)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Flynn Aird syndrome (C537066)
..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..Gemignani syndrome (C537678)
..Gonadal dysgenesis XX type deafness (C537286) 1
..Griscelli syndrome type 1 (C537301)
..Hearing Loss, Central (D006313) 16 C:1
..Hearing Loss, Noise-Induced (D006317)
..HID Syndrome (C566528)
..Histiocytosis with joint contractures and sensorineural deafness (C538322)
..Hittner Hirsch Kreh syndrome (C538323)
..Homozygous 11p15-p14 Deletion Syndrome (C564701)
..Insulin-Like Growth Factor I Deficiency (C563867)
..Johanson Blizzard syndrome (C535880)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..Macrothrombocytopenia progressive deafness (C537831)
..Marshall syndrome (C536025)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..MYH9-Related Disorders (C535507)
..Nephropathy deafness hyperparathyroidism (C536401)
..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..Nephropathy, Progressive, with Deafness (C563713)
..Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia (C566352)
..Nonsyndromic sensorineural hearing loss (C537845)
..Optic atrophy 1 and deafness (C537124) L: 00657;
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Otodental Dysplasia (C563482)
..Otofacioosseous-Gonadal Syndrome (C566597)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..Palmoplantar Keratoderma with Deafness (C536152)
..Paragangliomas with Sensorineural Hearing Loss (C566831)
..Pendred syndrome (C536648)
..Pfeiffer Kapferer syndrome (C537887)
..Presbycusis (D011304) 2
..Progressive hearing loss stapes fixation (C536424)
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss (C566428)
..Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness (C562897)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Robinson Miller Bensimon syndrome (C535864)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Schaap Taylor Baraitser syndrome (C536626)
..Sensorineural Deafness With Mild Renal Dysfunction (C567544)
..Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth (C566560)
..SeSAME syndrome (C557674)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Split-Hand-Foot Malformation With Sensorineural Hearing Loss (C565647)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Stickler syndrome, type 1 (C537492)
..STICKLER SYNDROME, TYPE IV (OMIM:614134)
..STICKLER SYNDROME, TYPE V (OMIM:614284)
..Thiamine responsive megaloblastic anemia syndrome (C536510)
..Townes-Brocks syndrome (C536974)
..Townes-Brocks-Branchiootorenal-Like Syndrome (C566272)
..Treft Sanborn Carey syndrome (C536544)
..Tunglang Savage Bellman syndrome (C536927)
..Usher Syndromes (D052245) 19 L: 00160;
..Vohwinkel syndrome (C536457)
..Winkelman Bethge Pfeiffer syndrome (C536710)
..Wolfram Syndrome 2 (C565733) L: 00490;
..Wolfram Syndrome, Mitochondrial Form (C564012)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10269

Name:

Progressive hearing loss stapes fixation

Definition:

Alternative IDs:

OMIM:304400

ParentIDs:

MESH:D006314|MESH:D006319|MESH:D040181

TreeNumbers:

C09.218.458.341.562/C536424 |C09.218.458.341.887/C536424 |C10.597.751.418.341.562/C536424 |C10.597.751.418.341.887/C536424 |C16.320.322/C536424 |C23.888.592.763.393.341.562/C536424 |C23.888.592.763.393.341.887/C536424

Synonyms:

Slim Mappings:

Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536424
MeSH: C536424
OMIM: 304400;
MSeqDR :
Genes: POU3F4;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0000405	Conductive hearing impairment
3	HP:0004458	Dilatated internal auditory canal
4	HP:0000408	Progressive sensorineural hearing impairment
5	HP:0000381	Stapes ankylosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001110219.3(GJB6):c.396G>A (p.Leu132=)	10804	GJB6	Benign/Likely benign	189971962	RCV001110056\|RCV001567338\|RCV002505683;	N	Human Phenotype Ontology:HP:0007529,MONDO:MONDO:0007510,MedGen:C0162361,OMIM:129500, Orphanet:189\|MedGen:C3661900\|MONDO:MONDO:0012975,MedGen:C2675237,OMIM:612643, Orphanet:90635; MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383; Human Phenotype	13	20797224	20797224	13:g.20797224C>T	-
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg)	10804	GJB6	Uncertain significance	751440971	RCV001757966\|RCV002488520;	N	MedGen:C3661900\|MONDO:MONDO:0012975,MedGen:C2675237,OMIM:612643, Orphanet:90635; MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645, Orphanet:90636; MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383; Human Phenotype Ontology:HP:0007529,MONDO:MONDO:00	13	20797559	20797559	20797559	-
NM_000307.5(POU3F4):c.24C>T (p.Pro8=)	5456	POU3F4	Likely benign	756362293	RCV001002391;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763356	82763356	X:g.82763356C>T	-
NM_000307.5(POU3F4):c.65_66del (p.Ser22fs)	5456	POU3F4	Pathogenic	2147996200	RCV001823209;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763395	82763396	82763394	-
NM_000307.5(POU3F4):c.80dup (p.Ser29fs)	5456	POU3F4	Pathogenic	-1	RCV003333904;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763411	82763412		-
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)	5456	POU3F4	Likely pathogenic	-1	RCV003314065;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763450	82763451		-
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser)	5456	POU3F4	Benign/Likely benign	144417952	RCV000155384\|RCV000315718\|RCV000966116;	N	MedGen:CN169374\|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383\|MedGen:C3661900	X	82763471	82763471	X:g.82763471C>T	ClinGen:CA182697	CN239399 Nonsyndromic Hearing Loss, X-Linked;
NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter)	5456	POU3F4	Pathogenic	1454033665	RCV000770854;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763502	82763502	NC_000023.10:g.82763502G>A	-
NM_000307.5(POU3F4):c.220del (p.Ser74fs)	5456	POU3F4	not provided	-1	RCV002508349;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763552	82763552	NC_000023.10:g.82763552del	-
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter)	5456	POU3F4	Pathogenic	878853242	RCV000225042;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763567	82763567	NC_000023.10:g.82763567C>T	ClinGen:CA10581516	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.249dup (p.Gly84fs)	5456	POU3F4	Pathogenic	1569280138	RCV000678987;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763578	82763579	NC_000023.10:g.82763581dup	-	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.300dup (p.Val101fs)	5456	POU3F4	Pathogenic	-1	RCV003155596;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763631	82763632		-
NM_000307.5(POU3F4):c.340dup (p.Trp114fs)	5456	POU3F4	Pathogenic	2147996471	RCV002248470;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763671	82763672	82763671	-
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)	5456	POU3F4	Uncertain significance	1178113212	RCV001166660;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763723	82763723	X:g.82763723C>T	-
NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg)	5456	POU3F4	Uncertain significance	773169987	RCV001730081;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763774	82763774	82763774	-
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)	5456	POU3F4	Uncertain significance	770657036	RCV001166661;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763862	82763862	X:g.82763862C>T	-
NM_000307.5(POU3F4):c.585A>G (p.Glu195=)	5456	POU3F4	Uncertain significance	202020213	RCV001166662;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763917	82763917	X:g.82763917A>G	-
NM_000307.5(POU3F4):c.607_610dup (p.Arg204fs)	5456	POU3F4	Pathogenic	-1	RCV003445223;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763934	82763935		-
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs)	5456	POU3F4	Pathogenic	876657719	RCV000215388\|RCV001374673;	N	MedGen:C5680250, Orphanet:96210\|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763935	82763938	NC_000023.10:g.82763935CAAA[1]	ClinGen:CA10577182
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter)	5456	POU3F4	Pathogenic	104894920	RCV000012444;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763936	82763936	X:g.82763936A>T	ClinGen:CA255973,OMIM:300039.0003	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.609_610del (p.Arg204fs)	5456	POU3F4	Pathogenic	2147996672	RCV001823269;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763940	82763941	82763939	-
NM_000307.5(POU3F4):c.648del (p.Leu217fs)	5456	POU3F4	Pathogenic	1555984570	RCV000012443;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82763977	82763977	NC_000023.10:g.82763980del	ClinGen:CA645372274,OMIM:300039.0002	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.669T>A (p.Tyr223Ter)	5456	POU3F4	Pathogenic	1199790524	RCV001823227;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764001	82764001	82764001	-
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr)	5456	POU3F4	Likely pathogenic	397516335	RCV000036258\|RCV003445093;	N	MedGen:C5680250, Orphanet:96210\|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764027	82764027	X:g.82764027T>C	ClinGen:CA261366	CN043648 Nonsyndromic hearing loss and deafness;
NM_000307.5(POU3F4):c.708= (p.Glu236=)	5456	POU3F4	Benign	5921978	RCV000036259\|RCV001001578\|RCV002054583;	N	MedGen:CN169374\|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383\|MedGen:CN517202	X	82764040	82764040	X:g.82764040A>G	ClinGen:CA132462	CN169374 not specified;
NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)	5456	POU3F4	Benign	-1	RCV001807850;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764040	82764042	NC_000023.10:g.82764040_82764042delinsGGC	-
NM_000307.5(POU3F4):c.710= (p.Ala237=)	5456	POU3F4	Benign	5921979	RCV000036257\|RCV000990891\|RCV002054582;	N	MedGen:CN169374\|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383\|MedGen:CN517202	X	82764042	82764042	X:g.82764042G>C	ClinGen:CA132460	CN169374 not specified;
NM_000307.5(POU3F4):c.753G>A (p.Leu251=)	5456	POU3F4	Benign/Likely benign	779713849	RCV000372706\|RCV000825816;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383\|MedGen:CN169374	X	82764085	82764085	NC_000023.10:g.82764085G>A	ClinGen:CA10462801	CN239399 Nonsyndromic Hearing Loss, X-Linked;
NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)	5456	POU3F4	Likely pathogenic	-1	RCV003445225;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764099	82764099		-
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)	5456	POU3F4	Conflicting interpretations of pathogenicity	1060499806	RCV000454255\|RCV000595747;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383\|MedGen:CN517202	X	82764177	82764177	NC_000023.10:g.82764177G>T	ClinGen:CA16609586	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)	5456	POU3F4	Uncertain significance	-1	RCV003389362;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764177	82764177		-
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs)	5456	POU3F4	Pathogenic	397516336	RCV000036260\|RCV001004804;	N	MedGen:C5680250, Orphanet:96210\|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764185	82764186	NC_000023.10:g.82764185_82764186del	ClinGen:CA261368
NM_000307.5(POU3F4):c.862_865del (p.Val289fs)	5456	POU3F4	Pathogenic	730882189	RCV000012447;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764191	82764194	X:g.82764191_82764194del	ClinGen:CA255979,OMIM:300039.0006	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.877C>G (p.Leu293Val)	5456	POU3F4	Pathogenic	780027419	RCV000474747;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764209	82764209	NC_000023.10:g.82764209C>G	ClinGen:CA16616707	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.896del (p.Lys299fs)	5456	POU3F4	Pathogenic	267606974	RCV000144387;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764227	82764227	X:g.82764227_82764227del	ClinGen:CA270743,OMIM:300039.0001	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val)	5456	POU3F4	Uncertain significance	1354177998	RCV002272941;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764246	82764246	82764246	-
NM_000307.5(POU3F4):c.916C>T (p.Gln306Ter)	5456	POU3F4	Pathogenic	-1	RCV002444376;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764248	82764248	82764248	-
NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)	5456	POU3F4	Likely pathogenic	-1	RCV003445224;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764255	82764255		-
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val)	5456	POU3F4	Pathogenic	387906502	RCV000012448;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764267	82764267	X:g.82764267C>T	ClinGen:CA255980,OMIM:300039.0007	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.950dup (p.Leu317fs)	5456	POU3F4	Pathogenic	398122516	RCV000034343;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764280	82764281	X:g.82764280_82764281insT	ClinGen:CA261263,OMIM:300039.0011	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp)	5456	POU3F4	Pathogenic	104894921	RCV000012445;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764282	82764282	X:g.82764282T>G	ClinGen:CA255975,OMIM:300039.0004	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly)	5456	POU3F4	Pathogenic	104894924	RCV000012450;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764299	82764299	X:g.82764299C>G	ClinGen:CA255984,OMIM:300039.0009	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.968G>A (p.Arg323His)	5456	POU3F4	Likely pathogenic	727505246	RCV000156766\|RCV001786336;	N	MedGen:C5680250, Orphanet:96210\|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764300	82764300	X:g.82764300G>A	ClinGen:CA185522	CN043648 Nonsyndromic hearing loss and deafness;
NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter)	5456	POU3F4	Pathogenic	1569280385	RCV000735984;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764307	82764307	NC_000023.10:g.82764307G>A	-
NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)	5456	POU3F4	not provided	-1	RCV002508348;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764313	82764313	NC_000023.10:g.82764313T>A	-
NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)	5456	POU3F4	Likely pathogenic	-1	RCV002444375;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764315	82764315	82764315	-
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly)	5456	POU3F4	Likely pathogenic	926775037	RCV002051729;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764317	82764317	82764317	-
NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)	5456	POU3F4	Pathogenic	-1	RCV003333905;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764317	82764317		-
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser)	5456	POU3F4	Pathogenic	104894923	RCV000012449;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764322	82764322	X:g.82764322A>T	ClinGen:CA255982,OMIM:300039.0008	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)	5456	POU3F4	Likely pathogenic	104894922	RCV000012446;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764332	82764332	X:g.82764332A>G	ClinGen:CA255977,OMIM:300039.0005	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.1060del (p.Thr354fs)	5456	POU3F4	Pathogenic	398122517	RCV000034344;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764389	82764389	X:g.82764389_82764389del	ClinGen:CA261264,OMIM:300039.0010	C1844678 304400 Deafness, X-linked 2;
NM_000307.5(POU3F4):c.*22C>G	5456	POU3F4	Benign/Likely benign	201213510	RCV001168398\|RCV001664721;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383\|MedGen:C3661900	X	82764440	82764440	X:g.82764440C>G	-
NM_000307.5(POU3F4):c.*41C>A	5456	POU3F4	Uncertain significance	1057516008	RCV000284866;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764459	82764459	NC_000023.10:g.82764459C>A	ClinGen:CA10654074	CN239399 Nonsyndromic Hearing Loss, X-Linked;
NM_000307.5(POU3F4):c.*105C>T	5456	POU3F4	Likely benign	777244703	RCV000339856;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764523	82764523	NC_000023.10:g.82764523C>T	ClinGen:CA10654397	CN239399 Nonsyndromic Hearing Loss, X-Linked;
NM_000307.5(POU3F4):c.*141T>C	5456	POU3F4	Uncertain significance	368408951	RCV000394516;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764559	82764559	NC_000023.10:g.82764559T>C	ClinGen:CA10646421	CN239399 Nonsyndromic Hearing Loss, X-Linked;
NM_000307.5(POU3F4):c.*192T>C	5456	POU3F4	Uncertain significance	775863791	RCV000285941;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764610	82764610	NC_000023.10:g.82764610T>C	ClinGen:CA10654075	CN239399 Nonsyndromic Hearing Loss, X-Linked;
NM_000307.5(POU3F4):c.*297T>C	5456	POU3F4	Uncertain significance	1297004201	RCV001169151;	N	MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400, Orphanet:383	X	82764715	82764715	X:g.82764715T>C	-

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