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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: Deafness (D003638)
..Starting node ..DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Child Nodes:
Sister Nodes:
..Albinism deafness syndrome (C537042)
..ALPORT SYNDROME, X-LINKED (OMIM:301050)
..Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..Ayazi syndrome (C537793)
..Branchiogenic-Deafness Syndrome (C563780)
..Burn-Mckeown syndrome (C537411)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Charcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
..Coxoauricular Syndrome (C565148)
..Davenport Donlan syndrome (C535988)
..Deaf-Blind Disorders (D054062) 26
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, (OMIM:606346)
..DEAFNESS, AUTOSOMAL DOMINANT 27 (OMIM:612431)
..DEAFNESS, AUTOSOMAL DOMINANT 33 (OMIM:614211)
..DEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
..DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
..DEAFNESS, AUTOSOMAL DOMINANT 51 (OMIM:613558)
..DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
..DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
..DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
..DEAFNESS, AUTOSOMAL RECESSIVE 45 (OMIM:612433)
..DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
..DEAFNESS, AUTOSOMAL RECESSIVE 83 (OMIM:613685)
..DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
..DEAFNESS, AUTOSOMAL RECESSIVE 85 (OMIM:613392)
..DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
..DEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Deafness, congenital onychodystrophy, recessive form (C538204)
..Deafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Deafness, Congenital, with Vitiligo and Achalasia (C565642)
..DEAFNESS, NONSYNDROMIC, MODIFIER 1 (OMIM:605429)
..DEAFNESS, Y-LINKED 1 (OMIM:400043)
..Dementia, familial Danish (C538209)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation (C566519)
..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..Fine-Lubinsky syndrome (C537933)
..Fountain syndrome (C537270)
..Herrmann syndrome (C538113)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..Hyperlipoproteinemia, Type II, and Deafness (C564170)
..HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Johnson neuroectodermal syndrome (C535882)
..Jones syndrome (C535886)
..Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
..Konigsmark Knox Hussels syndrome (C537214)
..Lynch Lee Murday syndrome (C537713)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Meyenburg-Altherr-Uehlinger syndrome (C537574)
..Microcephaly deafness syndrome (C537326)
..MUCKLE-WELLS SYNDROME (OMIM:191900)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..Myoclonus, Cerebellar Ataxia, and Deafness (C563549)
..Nasodigitoacoustic syndrome (C538337)
..Nathalie syndrome (C538342)
..Nephrosis deafness urinary tract digital malformation (C536402)
..Noninsulin-dependent diabetes mellitus with deafness (C536246)
..Nonsyndromic Deafness (C580334)
..Opticocochleodentate Degeneration (C563002)
..PERRAULT SYNDROME 3 (OMIM:614129)
..Ramos Arroyo Clark syndrome (C535286)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Richards-Rundle syndrome (C535674)
..Schimke X-linked mental retardation syndrome (C536630)
..Schlegelberger Grote syndrome (C536635)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Spastic paraplegia 24 (C536860)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Tibia, Absence of, with Congenital Deafness (C564764)
..Tietz syndrome (C536919)
..Wells Jankovic syndrome (C536692)
..Wright Dyck syndrome (C536749)
..X-linked mental retardation Gustavson type (C536759)
..Yemenite deaf-blind hypopigmentation syndrome (C536771)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3071

Name:

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

Definition:

Alternative IDs:

ParentIDs:

MESH:D003638

TreeNumbers:

C09.218.458.341.186/600791 |C10.597.751.418.341.186/600791 |C23.888.592.763.393.341.186/600791

Synonyms:

DFNB4 |DILATED VESTIBULAR AQUEDUCT |DVA |NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 |NSRD4

Slim Mappings:

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

Reference:

MedGen: 600791
MeSH: 600791
OMIM: 600791;

Genes: FOXI1; KCNJ10; SLC26A4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011387	Enlarged vestibular aqueduct
3	HP:0000376	Incomplete partition of the cochlea type II	HP:0040283
4	HP:0000407	Sensorineural hearing impairment

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.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.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.773G>A (p.Gly258Glu)	2299	FOXI1	Pathogenic	121909340	RCV000008964;	N	MedGen:C1863752,OMIM:600791	5	169535251	169535251	NM_012188.4:c.773G>A	NP_036320.2:p.Gly258Glu	NC_000005.9:g.169535251G>A	OMIM Allelic Variant:601093.0001	C1863752 600791 Enlarged vestibular aqueduct 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_002241.4(KCNJ10):c.1042C>T (p.Arg348Cys)	3766	KCNJ10	Pathogenic	137853074	RCV000007896;	N	MedGen:C1863752,OMIM:600791	1	160011281	160011281	NM_002241.4:c.1042C>T	NP_002232.2:p.Arg348Cys	NC_000001.10:g.160011281G>A	OMIM Allelic Variant:602208.0009	C1863752 600791 Enlarged vestibular aqueduct syndrome
NM_002241.4(KCNJ10):c.581C>A (p.Pro194His)	3766	KCNJ10	Pathogenic	137853073	RCV000007895;	N	MedGen:C1863752,OMIM:600791	1	160011742	160011742	NM_002241.4:c.581C>A	NP_002232.2:p.Pro194His	NC_000001.10:g.160011742G>T	OMIM Allelic Variant:602208.0008	C1863752 600791 Enlarged vestibular aqueduct 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.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.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.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.691G>C (p.Val231Leu)	5172	SLC26A4	Uncertain significance	483353047	RCV000119811;	N	MedGen:C1863752,OMIM:600791	7	107315480	107315480	NM_000441.1:c.691G>C	NP_000432.1:p.Val231Leu	NC_000007.13:g.107315480G>C	-	C1863752 600791 Enlarged vestibular aqueduct 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.765+3A>C	5172	SLC26A4	Likely pathogenic	483353048	RCV000119812;	N	MedGen:C1863752,OMIM:600791	7	107315557	107315557	NM_000441.1:c.765+3A>C		NC_000007.13:g.107315557A>C	-	C1863752 600791 Enlarged vestibular aqueduct 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.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.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.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.1105A>G (p.Lys369Glu)	5172	SLC26A4	Pathogenic	121908361	RCV000005091;	N	MedGen:C1863752,OMIM:600791	7	107329601	107329601	NM_000441.1:c.1105A>G	NP_000432.1:p.Lys369Glu	NC_000007.13:g.107329601A>G	OMIM Allelic Variant:605646.0010	C1863752 600791 Enlarged vestibular aqueduct syndrome
NM_000441.1(SLC26A4):c.1115C>T (p.Ala372Val)	5172	SLC26A4	Pathogenic	121908364	RCV000005092;	N	MedGen:C1863752,OMIM:600791	7	107329611	107329611	NM_000441.1:c.1115C>T	NP_000432.1:p.Ala372Val	NC_000007.13:g.107329611C>T	OMIM Allelic Variant:605646.0014	C1863752 600791 Enlarged vestibular aqueduct 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.1468A>C (p.Ile490Leu)	5172	SLC26A4	Likely benign;Pathogenic	200511789	RCV000005085; RCV000154348;	N	MedGen:C1863752,OMIM:600791; MedGen:CN169374	7	107336408	107336408	NM_000441.1:c.1468A>C	NP_000432.1:p.Ile490Leu	NC_000007.13:g.107336408A>C	OMIM Allelic Variant:605646.0004	C1863752 600791 Enlarged vestibular aqueduct syndrome; CN169374 not specified; C0271829 274600 Pendred's syndrome
NM_000441.1(SLC26A4):c.1468A>C (p.Ile490Leu)	5172	SLC26A4	Likely benign;Pathogenic	200511789	RCV000005085; RCV000154348;	N	MedGen:C1863752,OMIM:600791; MedGen:CN169374	7	107336408	107336408	NM_000441.1:c.1468A>C	NP_000432.1:p.Ile490Leu	NC_000007.13:g.107336408A>C	OMIM Allelic Variant:605646.0004	C1863752 600791 Enlarged vestibular aqueduct syndrome; CN169374 not specified
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.1540C>A (p.Gln514Lys)	5172	SLC26A4	Pathogenic	121908366	RCV000005113;	N	MedGen:C1863752,OMIM:600791	7	107336480	107336480	NM_000441.1:c.1540C>A	NP_000432.1:p.Gln514Lys	NC_000007.13:g.107336480C>A	OMIM Allelic Variant:605646.0030	C1863752 600791 Enlarged vestibular aqueduct 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.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.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.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.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.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.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.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