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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: Goiter, Nodular (D006044)
Parent Node: Hearing Loss, Sensorineural (D006319)
..Starting node ..Pendred syndrome (C536648)
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)
..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)
..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)
..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)
..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 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)
..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)
..Enlarged Vestibular Aqueduct (C566366)
..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
..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)
..Keratoderma palmoplantar deafness (C536152)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..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)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Otodental Dysplasia (C563482)
..Otofacioosseous-Gonadal Syndrome (C566597)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
..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)
..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
..Vohwinkel syndrome (C536457)
..Winkelman Bethge Pfeiffer syndrome (C536710)
..Wolfram Syndrome 2 (C565733)
..Wolfram Syndrome, Mitochondrial Form (C564012)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8771

Name:

Pendred syndrome

Definition:

Alternative IDs:

OMIM:274600

ParentIDs:

MESH:D006044|MESH:D006319

TreeNumbers:

C09.218.458.341.887/C536648 |C10.597.751.418.341.887/C536648 |C19.874.283.501/C536648 |C23.888.592.763.393.341.887/C536648

Synonyms:

Slim Mappings:

Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536648
MeSH: C536648
OMIM: 274600;

Genes: SLC26A4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0008554	Cochlear malformation
4	HP:0008223	Compensated hypothyroidism
5	HP:0008527	Congenital sensorineural hearing impairment
6	HP:0000853	Goiter
7	HP:0001249	Intellectual disability
8	HP:0002890	Thyroid carcinoma
9	HP:0001751	Vestibular dysfunction

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_000441.1(SLC26A4):c.-103T>C	-1	-	Pathogenic;Uncertain significance	60284988	RCV000005109; RCV000005110; RCV000154443;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791; MedGen:CN169374	7	107301201	107301201	NM_000441.1:c.-103T>C		NC_000007.13:g.107301201T>C	OMIM Allelic Variant:605646.0027	C1863752 600791 Enlarged vestibular aqueduct syndrome; CN169374 not specified; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.-4+5G>A	-1	-	Likely pathogenic	727503425	RCV000151882;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107301305	107301305	NM_000441.1:c.-4+5G>A		NC_000007.13:g.107301305G>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.-3-2A>G	-1	-	Pathogenic	397516411	RCV000036415;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107302082	107302082	NM_000441.1:c.-3-2A>G		NC_000007.13:g.107302082A>G	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2T>C (p.Met1Thr)	-1	-	Pathogenic	111033302	RCV000036489;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107302088	107302088	NM_000441.1:c.2T>C	NP_000432.1:p.Met1Thr	NC_000007.13:g.107302088T>C	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.3G>C (p.Met1Ile)	-1	-	Likely pathogenic	786204426	RCV000169018;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107302089	107302089	NM_000441.1:c.3G>C	NP_000432.1:p.Met1Ile	NC_000007.13:g.107302089G>C	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.17G>T (p.Gly6Val)	-1	-	Likely benign	111033423	RCV000169379; RCV000036459;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:CN169374	7	107302103	107302103	NM_000441.1:c.17G>T	NP_000432.1:p.Gly6Val	NC_000007.13:g.107302103G>T	-	CN169374 not specified; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.68C>A (p.Ser23Ter)	-1	-	Likely pathogenic;Pathogenic	397516430	RCV000169606; RCV000036502;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107302154	107302154	NM_000441.1:c.68C>A	NP_000432.1:p.Ser23Ter	NC_000007.13:g.107302154C>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.84C>A (p.Ser28Arg)	-1	-	Likely pathogenic	539699299	RCV000169378;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107302170	107302170	NM_000441.1:c.84C>A	NP_000432.1:p.Ser28Arg	NC_000007.13:g.107302170C>A	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.85G>C (p.Glu29Gln)	-1	-	Likely pathogenic;Pathogenic	111033205	RCV000169251; RCV000005111; RCV000036509;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107302171	107302171	NM_000441.1:c.85G>C	NP_000432.1:p.Glu29Gln	NC_000007.13:g.107302171G>C,NC_000007.13:g.107302171G>T	OMIM Allelic Variant:605646.0028	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.85G>T (p.Glu29Ter)	-1	-	Likely pathogenic	111033205	RCV000036510;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107302171	107302171	NM_000441.1:c.85G>T	NP_000432.1:p.Glu29Ter	NC_000007.13:g.107302171G>C,NC_000007.13:g.107302171G>T	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_012188.4(FOXI1):c.800G>A (p.Arg267Gln)	2299	FOXI1	Pathogenic	121909341	RCV000008966; RCV000008965;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	5	169535278	169535278	NM_012188.4:c.800G>A	NP_036320.2:p.Arg267Gln	NC_000005.9:g.169535278G>A	OMIM Allelic Variant:601093.0002	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.164+1delG	5172	SLC26A4	Likely pathogenic	786204504	RCV000169187;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107302251	107302251	NM_000441.1:c.164+1delG		NC_000007.13:g.107302251delG	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.164+2T>C	5172	SLC26A4	Pathogenic	397516420	RCV000036453;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107302252	107302252	NM_000441.1:c.164+2T>C		NC_000007.13:g.107302252T>C	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.165-2A>G	5172	SLC26A4	Likely pathogenic	786204458	RCV000169098;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107303739	107303739	NM_000441.1:c.165-2A>G		NC_000007.13:g.107303739A>G	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.170C>G (p.Ser57Ter)	5172	SLC26A4	Likely pathogenic	111033200	RCV000036457;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107303746	107303746	NM_000441.1:c.170C>G	NP_000432.1:p.Ser57Ter	NC_000007.13:g.107303746C>G	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.235C>T (p.Arg79Ter)	5172	SLC26A4	Likely pathogenic	786204581	RCV000169324;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107303811	107303811	NM_000441.1:c.235C>T	NP_000432.1:p.Arg79Ter	NC_000007.13:g.107303811C>T	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.269C>T (p.Ser90Leu)	5172	SLC26A4	Likely pathogenic	370588279	RCV000169192;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107303845	107303845	NM_000441.1:c.269C>T	NP_000432.1:p.Ser90Leu	NC_000007.13:g.107303845C>T	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.279delT (p.Ser93Argfs)	5172	SLC26A4	Likely pathogenic	786204421	RCV000169009;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107303855	107303855	NM_000441.1:c.279delT	NP_000432.1:p.Ser93Argfs	NC_000007.13:g.107303855delT	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.294_298delCACGC (p.Thr99Alafs)	5172	SLC26A4	Pathogenic	111033241	RCV000036487;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107303870	107303874	NM_000441.1:c.294_298delCACGC	NP_000432.1:p.Thr99Alafs	NC_000007.13:g.107303870_107303874delCACGC	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.304+2T>C	5172	SLC26A4	Likely pathogenic	746238617	RCV000169595;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107303882	107303882	NM_000441.1:c.304+2T>C		NC_000007.13:g.107303882T>C	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.365dupT (p.Ile124Tyrfs)	5172	SLC26A4	Likely pathogenic	786204730	RCV000169571;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107312643	107312643	NM_000441.1:c.365dupT	NP_000432.1:p.Ile124Tyrfs	NC_000007.13:g.107312643dupT	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.397T>A (p.Ser133Thr)	5172	SLC26A4	Pathogenic	121908365	RCV000005105;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107312675	107312675	NM_000441.1:c.397T>A	NP_000432.1:p.Ser133Thr	NC_000007.13:g.107312675T>A	OMIM Allelic Variant:605646.0023	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.397_398delTCinsA (p.Ser133Lysfs)	5172	SLC26A4	Likely pathogenic	111033400	RCV000036492;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107312675	107312676	NM_000441.1:c.397_398delTCinsA	NP_000432.1:p.Ser133Lysfs	NC_000007.13:g.107312675_107312676delTCinsA	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.412G>T (p.Val138Phe)	5172	SLC26A4	Pathogenic	111033199	RCV000005106; RCV000036493;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107312690	107312690	NM_000441.1:c.412G>T	NP_000432.1:p.Val138Phe	NC_000007.13:g.107312690G>T	OMIM Allelic Variant:605646.0024	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.554G>C (p.Arg185Thr)	5172	SLC26A4	Likely pathogenic;Pathogenic	542620119	RCV000169232; RCV000214962;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107314747	107314747	NM_000441.1:c.554G>C	NP_000432.1:p.Arg185Thr	NC_000007.13:g.107314747G>C	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.578C>T (p.Thr193Ile)	5172	SLC26A4	Pathogenic	111033348	RCV000005101; RCV000036499;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107314771	107314771	NM_000441.1:c.578C>T	NP_000432.1:p.Thr193Ile	NC_000007.13:g.107314771C>T	OMIM Allelic Variant:605646.0019	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.589G>A (p.Gly197Arg)	5172	SLC26A4	Likely pathogenic	111033380	RCV000036500;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107314782	107314782	NM_000441.1:c.589G>A	NP_000432.1:p.Gly197Arg	NC_000007.13:g.107314782G>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.626G>T (p.Gly209Val)	5172	SLC26A4	Pathogenic	111033303	RCV000005090; RCV000036501;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107315415	107315415	NM_000441.1:c.626G>T	NP_000432.1:p.Gly209Val	NC_000007.13:g.107315415G>T	OMIM Allelic Variant:605646.0009	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val)	5172	SLC26A4	Likely pathogenic	111033242	RCV000036504;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107315495	107315495	NM_000441.1:c.706C>G	NP_000432.1:p.Leu236Val	NC_000007.13:g.107315495C>G	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.707T>C (p.Leu236Pro)	5172	SLC26A4	Pathogenic	80338848	RCV000005086; RCV000036505;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107315496	107315496	NM_000441.1:c.707T>C	NP_000432.1:p.Leu236Pro	NC_000007.13:g.107315496T>C	OMIM Allelic Variant:605646.0005	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.716T>A (p.Val239Asp)	5172	SLC26A4	Likely pathogenic;Pathogenic	111033256	RCV000169244; RCV000036506;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107315505	107315505	NM_000441.1:c.716T>A	NP_000432.1:p.Val239Asp	NC_000007.13:g.107315505T>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.765+2T>C	5172	SLC26A4	Pathogenic	397516432	RCV000036507;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107315556	107315556	NM_000441.1:c.765+2T>C		NC_000007.13:g.107315556T>C	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.845G>A (p.Cys282Tyr)	5172	SLC26A4	Likely pathogenic	111033454	RCV000036508;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107323726	107323726	NM_000441.1:c.845G>A	NP_000432.1:p.Cys282Tyr	NC_000007.13:g.107323726G>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.890delC (p.Pro297Glnfs)	5172	SLC26A4	Likely pathogenic	786204600	RCV000169356;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107323771	107323771	NM_000441.1:c.890delC	NP_000432.1:p.Pro297Glnfs	NC_000007.13:g.107323771delC	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.898A>C (p.Ile300Leu)	5172	SLC26A4	Benign;Likely benign	111033304	RCV000169080; RCV000036511;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:CN169374	7	107323779	107323779	NM_000441.1:c.898A>C	NP_000432.1:p.Ile300Leu	NC_000007.13:g.107323779A>C	-	CN169374 not specified; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.918+1G>T	5172	SLC26A4	Likely pathogenic	111033245	RCV000036512;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107323800	107323800	NM_000441.1:c.918+1G>T		NC_000007.13:g.107323800G>T	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.919-2A>G	5172	SLC26A4	Pathogenic	111033313	RCV000169120; RCV000005112; RCV000036513;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107323898	107323898	NM_000441.1:c.919-2A>G		NC_000007.13:g.107323898A>G	OMIM Allelic Variant:605646.0029	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.970A>T (p.Asn324Tyr)	5172	SLC26A4	Benign;Likely benign	36039758	RCV000169079; RCV000036515;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:CN169374	7	107323951	107323951	NM_000441.1:c.970A>T	NP_000432.1:p.Asn324Tyr	NC_000007.13:g.107323951A>T	-	CN169374 not specified; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.997dupA (p.Arg333Lysfs)	5172	SLC26A4	Pathogenic	431905486	RCV000083261;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107323978	107323978	NM_000441.1:c.997dupA	NP_000432.1:p.Arg333Lysfs	NC_000007.13:g.107323978dupA	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1001G>T (p.Gly334Val)	5172	SLC26A4	Likely pathogenic	146281367	RCV000169430;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107323982	107323982	NM_000441.1:c.1001G>T	NP_000432.1:p.Gly334Val	NC_000007.13:g.107323982G>T	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1001+1G>A	5172	SLC26A4	Pathogenic	80338849	RCV000005088; RCV000036418;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107323983	107323983	NM_000441.1:c.1001+1G>A		NC_000007.13:g.107323983G>A	OMIM Allelic Variant:605646.0007	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1003T>C (p.Phe335Leu)	5172	SLC26A4	Likely pathogenic;Pathogenic	111033212	RCV000005114; RCV000036420;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107329499	107329499	NM_000441.1:c.1003T>C	NP_000432.1:p.Phe335Leu	NC_000007.13:g.107329499T>C	OMIM Allelic Variant:605646.0031	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1079C>T (p.Ala360Val)	5172	SLC26A4	Likely pathogenic	786204474	RCV000169123;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107329575	107329575	NM_000441.1:c.1079C>T	NP_000432.1:p.Ala360Val	NC_000007.13:g.107329575C>T	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1149+3A>G	5172	SLC26A4	Pathogenic	111033314	RCV000036424;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107329648	107329648	NM_000441.1:c.1149+3A>G		NC_000007.13:g.107329648A>G	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1151A>G (p.Glu384Gly)	5172	SLC26A4	Pathogenic	111033244	RCV000005089; RCV000036425;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107330570	107330570	NM_000441.1:c.1151A>G	NP_000432.1:p.Glu384Gly	NC_000007.13:g.107330570A>G	OMIM Allelic Variant:605646.0008,OMIM Allelic Variant:605646.0026	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1198delT (p.Cys400Valfs)	5172	SLC26A4	Likely pathogenic;Pathogenic	397516413	RCV000169097; RCV000036426;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107330617	107330617	NM_000441.1:c.1198delT	NP_000432.1:p.Cys400Valfs	NC_000007.13:g.107330617delT	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1204G>A (p.Val402Met)	5172	SLC26A4	Likely pathogenic	397516414	RCV000036427;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107330623	107330623	NM_000441.1:c.1204G>A	NP_000432.1:p.Val402Met	NC_000007.13:g.107330623G>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1226G>A (p.Arg409His)	5172	SLC26A4	Pathogenic	111033305	RCV000169222; RCV000036428;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107330645	107330645	NM_000441.1:c.1226G>A	NP_000432.1:p.Arg409His	NC_000007.13:g.107330645G>A,NC_000007.13:g.107330645G>C	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1226G>C (p.Arg409Pro)	5172	SLC26A4	Likely pathogenic	111033305	RCV000036429;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107330645	107330645	NM_000441.1:c.1226G>C	NP_000432.1:p.Arg409Pro	NC_000007.13:g.107330645G>A,NC_000007.13:g.107330645G>C	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1229C>T (p.Thr410Met)	5172	SLC26A4	Pathogenic	111033220	RCV000036430;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107330648	107330648	NM_000441.1:c.1229C>T	NP_000432.1:p.Thr410Met	NC_000007.13:g.107330648C>T	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1246A>C (p.Thr416Pro)	5172	SLC26A4	Pathogenic	28939086	RCV000005087; RCV000036432;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107330665	107330665	NM_000441.1:c.1246A>C	NP_000432.1:p.Thr416Pro	NC_000007.13:g.107330665A>C	OMIM Allelic Variant:605646.0006	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1264-1G>C	5172	SLC26A4	Likely pathogenic;Pathogenic	111033311	RCV000169533; RCV000036433;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107334847	107334847	NM_000441.1:c.1264-1G>C		NC_000007.13:g.107334847G>C	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1284_1286delTGC (p.Ala429del)	5172	SLC26A4	Likely pathogenic;Pathogenic	111033306	RCV000169051; RCV000036434;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107334868	107334870	NM_000441.1:c.1284_1286delTGC	NP_000432.1:p.Ala429del	NC_000007.13:g.107334868_107334870delTGC	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1334T>G (p.Leu445Trp)	5172	SLC26A4	Pathogenic	111033307	RCV000005100; RCV000036437;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107334918	107334918	NM_000441.1:c.1334T>G	NP_000432.1:p.Leu445Trp	NC_000007.13:g.107334918T>G	OMIM Allelic Variant:605646.0018	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1336C>T (p.Gln446Ter)	5172	SLC26A4	Likely pathogenic;Pathogenic	397516416	RCV000169037; RCV000036438;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107334920	107334920	NM_000441.1:c.1336C>T	NP_000432.1:p.Gln446Ter	NC_000007.13:g.107334920C>T	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1341+1delG	5172	SLC26A4	Pathogenic	397516417	RCV000036439;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107334926	107334926	NM_000441.1:c.1341+1delG		NC_000007.13:g.107334926delG	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1342-2_1343dupAGTC	5172	SLC26A4	Pathogenic	111033407	RCV000036440;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107335064	107335067	NM_000441.1:c.1342-2_1343dupAGTC		NC_000007.13:g.107335064_107335067dupAGTC	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1437+2T>G	5172	SLC26A4	Pathogenic	397516418	RCV000036442;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107335163	107335163	NM_000441.1:c.1437+2T>G		NC_000007.13:g.107335163T>G	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1488C>T (p.Leu496=)	5172	SLC26A4	Benign;Likely benign	77407094	RCV000169380; RCV000036443;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:CN169374	7	107336428	107336428	NM_000441.1:c.1488C>T	NP_000432.1:p.Leu496=	NC_000007.13:g.107336428C>T	-	CN169374 not specified; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1489G>A (p.Gly497Ser)	5172	SLC26A4	Likely pathogenic;Pathogenic	111033308	RCV000005085; RCV000169242; RCV000036444;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107336429	107336429	NM_000441.1:c.1489G>A	NP_000432.1:p.Gly497Ser	NC_000007.13:g.107336429G>A	OMIM Allelic Variant:605646.0004	C1863752 600791 Enlarged vestibular aqueduct syndrome; CN169374 not specified; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1489G>A (p.Gly497Ser)	5172	SLC26A4	Likely pathogenic;Pathogenic	111033308	RCV000005085; RCV000169242; RCV000036444;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107336429	107336429	NM_000441.1:c.1489G>A	NP_000432.1:p.Gly497Ser	NC_000007.13:g.107336429G>A	OMIM Allelic Variant:605646.0004	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1520delT (p.Leu507Terfs)	5172	SLC26A4	Likely pathogenic	786204601	RCV000169357;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107336460	107336460	NM_000441.1:c.1520delT	NP_000432.1:p.Leu507Terfs	NC_000007.13:g.107336460delT	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1541A>G (p.Gln514Arg)	5172	SLC26A4	Likely pathogenic	111033316	RCV000036445;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107336481	107336481	NM_000441.1:c.1541A>G	NP_000432.1:p.Gln514Arg	NC_000007.13:g.107336481A>G	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NG_008489.1:g.40406G>A	5172	SLC26A4	Pathogenic	-1	RCV000213351;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107336485	107336485	NM_000441.1:c.1544+1G>A			-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1547dupC (p.Ser517Phefs)	5172	SLC26A4	Likely pathogenic	786204450	RCV000169076;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107338489	107338489	NM_000441.1:c.1547dupC	NP_000432.1:p.Ser517Phefs	NC_000007.13:g.107338489dupC	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1548_1549insC (p.Ser517Leufs)	5172	SLC26A4	Likely pathogenic	111033317	RCV000036448;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107338490	107338491	NM_000441.1:c.1548_1549insC	NP_000432.1:p.Ser517Leufs	NC_000007.13:g.107338490_107338491insC	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1554G>A (p.Trp518Ter)	5172	SLC26A4	Pathogenic	727503428	RCV000151902;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107338496	107338496	NM_000441.1:c.1554G>A	NP_000432.1:p.Trp518Ter	NC_000007.13:g.107338496G>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1586T>G (p.Ile529Ser)	5172	SLC26A4	Likely pathogenic	786204739	RCV000169586;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107338528	107338528	NM_000441.1:c.1586T>G	NP_000432.1:p.Ile529Ser	NC_000007.13:g.107338528T>G	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1588T>C (p.Tyr530His)	5172	SLC26A4	Likely pathogenic;Pathogenic	111033254	RCV000005107; RCV000036449;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107338530	107338530	NM_000441.1:c.1588T>C	NP_000432.1:p.Tyr530His	NC_000007.13:g.107338530T>C	OMIM Allelic Variant:605646.0025	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1614+1G>A	5172	SLC26A4	Pathogenic	111033312	RCV000036451;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107338557	107338557	NM_000441.1:c.1614+1G>A		NC_000007.13:g.107338557G>A,NC_000007.13:g.107338557G>C	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1614+1G>C	5172	SLC26A4	Pathogenic	111033312	RCV000155956;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107338557	107338557	NM_000441.1:c.1614+1G>C		NC_000007.13:g.107338557G>A,NC_000007.13:g.107338557G>C	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1694G>A (p.Cys565Tyr)	5172	SLC26A4	Likely pathogenic	111033257	RCV000036454;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107340607	107340607	NM_000441.1:c.1694G>A	NP_000432.1:p.Cys565Tyr	NC_000007.13:g.107340607G>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1707+6T>C	5172	SLC26A4	Likely pathogenic	727505230	RCV000156735;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107340626	107340626	NM_000441.1:c.1707+6T>C		NC_000007.13:g.107340626T>C	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1919G>A (p.Trp640Ter)	5172	SLC26A4	Likely pathogenic	786204502	RCV000169184;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107342387	107342387	NM_000441.1:c.1919G>A	NP_000432.1:p.Trp640Ter	NC_000007.13:g.107342387G>A	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1920G>A (p.Trp640Ter)	5172	SLC26A4	Likely pathogenic	368119540	RCV000169404;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107342388	107342388	NM_000441.1:c.1920G>A	NP_000432.1:p.Trp640Ter	NC_000007.13:g.107342388G>A	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1963A>G (p.Ile655Val)	5172	SLC26A4	Likely pathogenic	397516424	RCV000036463;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107342431	107342431	NM_000441.1:c.1963A>G	NP_000432.1:p.Ile655Val	NC_000007.13:g.107342431A>G	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1975G>C (p.Val659Leu)	5172	SLC26A4	Likely pathogenic	200455203	RCV000169245;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107342443	107342443	NM_000441.1:c.1975G>C	NP_000432.1:p.Val659Leu	NC_000007.13:g.107342443G>C	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2000T>G (p.Phe667Cys)	5172	SLC26A4	Pathogenic	121908360	RCV000005081;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107342468	107342468	NM_000441.1:c.2000T>G	NP_000432.1:p.Phe667Cys	NC_000007.13:g.107342468T>G	OMIM Allelic Variant:605646.0001	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2015G>A (p.Gly672Glu)	5172	SLC26A4	Pathogenic	111033309	RCV000036467;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107342483	107342483	NM_000441.1:c.2015G>A	NP_000432.1:p.Gly672Glu	NC_000007.13:g.107342483G>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2027T>A (p.Leu676Gln)	5172	SLC26A4	Likely pathogenic;Pathogenic	111033318	RCV000169448; RCV000036468;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107342495	107342495	NM_000441.1:c.2027T>A	NP_000432.1:p.Leu676Gln	NC_000007.13:g.107342495T>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2086C>T (p.Gln696Ter)	5172	SLC26A4	Likely pathogenic	752807925	RCV000169591;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107344827	107344827	NM_000441.1:c.2086C>T	NP_000432.1:p.Gln696Ter	NC_000007.13:g.107344827C>T	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2089+1G>A	5172	SLC26A4	Pathogenic	727503430	RCV000151908;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107344831	107344831	NM_000441.1:c.2089+1G>A		NC_000007.13:g.107344831G>A	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2127delT (p.Phe709Leufs)	5172	SLC26A4	Likely pathogenic	786204523	RCV000169223;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004	7	107350536	107350536	NM_000441.1:c.2127delT	NP_000432.1:p.Phe709Leufs	NC_000007.13:g.107350536delT	-	C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2145G>T (p.Lys715Asn)	5172	SLC26A4	Likely pathogenic	397516427	RCV000036476;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107350554	107350554	NM_000441.1:c.2145G>T	NP_000432.1:p.Lys715Asn	NC_000007.13:g.107350554G>T	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2162C>T (p.Thr721Met)	5172	SLC26A4	Likely pathogenic;Pathogenic	121908363	RCV000005097; RCV000005096; RCV000154350;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107350571	107350571	NM_000441.1:c.2162C>T	NP_000432.1:p.Thr721Met	NC_000007.13:g.107350571C>T	OMIM Allelic Variant:605646.0012	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2168A>G (p.His723Arg)	5172	SLC26A4	Pathogenic	121908362	RCV000005095; RCV000005094; RCV000036477;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107350577	107350577	NM_000441.1:c.2168A>G	NP_000432.1:p.His723Arg	NC_000007.13:g.107350577A>G	OMIM Allelic Variant:605646.0011	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2171A>G (p.Asp724Gly)	5172	SLC26A4	Pathogenic	757820624	RCV000218320;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107350580	107350580	NM_000441.1:c.2171A>G	NP_000432.1:p.Asp724Gly		-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2188C>T (p.Gln730Ter)	5172	SLC26A4	Pathogenic	397516428	RCV000036478;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107350597	107350597	NM_000441.1:c.2188C>T	NP_000432.1:p.Gln730Ter	NC_000007.13:g.107350597C>T	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2215C>T (p.Gln739Ter)	5172	SLC26A4	Pathogenic	727503431	RCV000151910;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107350624	107350624	NM_000441.1:c.2215C>T	NP_000432.1:p.Gln739Ter	NC_000007.13:g.107350624C>T	-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2218G>A (p.Gly740Ser)	5172	SLC26A4	Benign;Likely benign	17154353	RCV000169090; RCV000036480;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:CN169374	7	107350627	107350627	NM_000441.1:c.2218G>A	NP_000432.1:p.Gly740Ser	NC_000007.13:g.107350627G>A	-	CN169374 not specified; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.2224delA (p.Ile742Phefs)	5172	SLC26A4	Pathogenic	-1	RCV000221940;	N	MedGen:C0271829,OMIM:274600,ORPHA:705,SNOMED CT:70348004; MedGen:C1863752,OMIM:600791	7	107350633	107350633	NM_000441.1:c.2224delA	NP_000432.1:p.Ile742Phefs		-	C1863752 600791 Enlarged vestibular aqueduct syndrome; C0271829 274600 Pendred's syndrome