Total 41 pathogenic variants reported for Meniere disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) SNV
Germline		 Chr11:17509546 Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18A
not specified
Condition: not provided
Usher syndrome type 1C
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA142309 rs_41282932

8 SubmittersRCV000005455RCV000041259RCV000755427RCV001276292RCV001797045
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) SNV
Germline		 Chr11:77180404 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA132257 rs_200454015

10 SubmittersRCV000036091RCV000724180RCV000988606RCV001110090RCV001114121RCV001276694RCV001526685
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) SNV
Germline		 Chr10:71732116 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA137396 rs_149073355

11 SubmittersRCV000039165RCV000950191RCV001103711RCV001103712RCV001272567RCV001797050
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) SNV
Germline		 Chr5:90694338 Conflicting classifications of pathogenicity not specified
Condition: not provided
Usher syndrome type 2C
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA138220 rs_201733037

12 SubmittersRCV000039633RCV000710461RCV001155423RCV001797051
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) SNV
Germline		 Chr4:6301089 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Condition: not provided
Monogenic diabetes
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA295801 rs_35031397

16 SubmittersRCV000155411RCV000351887RCV000415767RCV000445544RCV000987408RCV001157342RCV004567069
NM_001329752.2(FAM136A):c.547C>T (p.Gln183Ter) SNV
Germline		 Chr2:70300842 Pathogenic Meniere disease Criteria Provided
Single Submitter
 CA174976 rs_690016537

1 SubmittersRCV000149519
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe) SNV
Germline		 Chr18:34882130 Conflicting classifications of pathogenicity Meniere disease
Condition: not provided
Left ventricular noncompaction 1		 Criteria Provided
Conflicting Classifications
 CA174978 rs_533568822

4 SubmittersRCV000149520RCV001508826RCV001849917
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) SNV
Germline		 Chr11:121158016 Conflicting classifications of pathogenicity not specified
Autosomal recessive nonsyndromic hearing loss 21
Autosomal dominant nonsyndromic hearing loss 12
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA185821 rs_200544452

5 SubmittersRCV000156907RCV000326930RCV000381584RCV000756761RCV002267729
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) SNV
Germline		 Chr11:77211830 Conflicting classifications of pathogenicity not specified
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Meniere disease
Usher syndrome type 1B
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA182438 rs_41298759

11 SubmittersRCV000155244RCV000290561RCV000386123RCV000765019RCV001089552RCV001034255RCV001526687RCV001274807RCV004019859
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) SNV
Germline		 Chr22:36292105 Conflicting classifications of pathogenicity not specified
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA177099 rs_34292387

7 SubmittersRCV000151333RCV000386272RCV000291994RCV000724779RCV004567172
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) SNV
Germline		 Chr4:6277579 Pathogenic/Likely pathogenic Wolfram syndrome 1
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Inborn genetic diseases
WFS1-related disorder
Wolfram syndrome 1
Wolfram-like syndrome
Meniere disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274502 rs_71530923

15 SubmittersRCV000169684RCV000509458RCV000514926RCV001199167RCV001536034RCV002515205RCV004528924RCV002467643RCV004567372
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) SNV
Germline		 Chr1:235759143 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Inborn genetic diseases
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA205722 rs_138443479

11 SubmittersRCV000329381RCV000192717RCV001354479RCV002262789RCV003917758RCV004020323RCV004567394
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) SNV
Germline		 Chr17:10647205 Conflicting classifications of pathogenicity not specified
Rhabdomyolysis
Distal arthrogryposis type 2B1
Condition: not provided
MYH3-related disorder
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA209607 rs_139480342

6 SubmittersRCV000195045RCV000662290RCV001127113RCV001522905RCV004541247RCV004567395
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe) SNV
Germline		 Chr4:113356762 Conflicting classifications of pathogenicity Long QT syndrome
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA336737 rs_147619875

6 SubmittersRCV000196821RCV000486245RCV001145633RCV002415855RCV004567438
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His) SNV
Germline		 Chr5:90840606 Conflicting classifications of pathogenicity not specified
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA3342213 rs_200907244

5 SubmittersRCV000215082RCV000726656RCV001797069
NM_001148.6(ANK2):c.10805G>A (p.Arg3602Gln) SNV
Germline		 Chr4:113363386 Conflicting classifications of pathogenicity Cardiovascular phenotype
Long QT syndrome
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA3052138 rs_374991526

5 SubmittersRCV000243213RCV000631583RCV003326393RCV002487152RCV004567805
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) SNV
Germline		 Chr11:46859041 Conflicting classifications of pathogenicity Condition: not provided
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
LRP4-related disorder
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA5968969 rs_149082597

8 SubmittersRCV000360139RCV000524562RCV001107019RCV004535290RCV004567827
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr) SNV
Germline		 Chr1:10256286 Conflicting classifications of pathogenicity Neuroblastoma
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
not specified
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA580622 rs_143654307

6 SubmittersRCV000347279RCV000383160RCV001173603RCV003480578RCV004021327RCV004567840
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) SNV
Germline		 Chr1:102888591 Conflicting classifications of pathogenicity Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA973471 rs_140954784

4 SubmittersRCV000279813RCV000338595RCV001660559RCV004567841
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) SNV
Germline		 Chr1:103078818 Conflicting classifications of pathogenicity Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
Connective tissue disorder
COL11A1-related disorder
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA975481 rs_141978499

10 SubmittersRCV000351685RCV000404285RCV000513856RCV000680462RCV004537629RCV004567844
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) SNV
Germline		 Chr1:103015729 Conflicting classifications of pathogenicity Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA974978 rs_149558726

5 SubmittersRCV000275597RCV000330638RCV000494431RCV004567842
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) SNV
Germline		 Chr1:103031198 Conflicting classifications of pathogenicity Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
Connective tissue disorder
not specified
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA975345 rs_141304474

6 SubmittersRCV000287951RCV000403940RCV001660560RCV002278329RCV004525918RCV004567843
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) SNV
Germline		 Chr1:235787357 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Inborn genetic diseases
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA1466767 rs_767687843

9 SubmittersRCV000309417RCV000788549RCV002262932RCV003940114RCV004021440RCV004567847
NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg) SNV
Germline		 Chr1:40301848 Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple, 2
Condition: not provided
COL9A2-related disorder
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA791313 rs_142151614

6 SubmittersRCV000335526RCV000657851RCV003422216RCV004567848
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) SNV
Germline		 Chr2:227008149 Conflicting classifications of pathogenicity Alport syndrome
Inborn genetic diseases
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA2144098 rs_200973262

9 SubmittersRCV000342956RCV001265753RCV001330986RCV001029898RCV001770271RCV004567864
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) SNV
Germline		 Chr11:77174877 Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided
Meniere disease
Usher syndrome type 1B		 Criteria Provided
Conflicting Classifications
 CA6197677 rs_781991817

5 SubmittersRCV000295997RCV000344917RCV000380863RCV001048255RCV001526683RCV001833447
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) SNV
Germline		 Chr11:77179874 Conflicting classifications of pathogenicity Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Meniere disease
Usher syndrome type 1B		 Criteria Provided
Conflicting Classifications
 CA6197856 rs_782179888

6 SubmittersRCV000276334RCV000333807RCV000363893RCV001207535RCV001526684RCV001833449
NM_002470.4(MYH3):c.248C>G (p.Pro83Arg) SNV
Germline		 Chr17:10652520 Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1
Freeman-Sheldon syndrome
MYH3-related disorder
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA8393364 rs_199513213

4 SubmittersRCV000303165RCV000408004RCV000791001RCV002522912RCV004567862
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) SNV
Germline		 Chr4:6301848 Conflicting classifications of pathogenicity Monogenic diabetes
Condition: not provided
Wolfram syndrome 1
WFS1-related disorder
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA2839583 rs_112967046

6 SubmittersRCV000445499RCV001351930RCV002250628RCV004529580RCV004567928
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) SNV
Germline		 Chr1:40301193 Conflicting classifications of pathogenicity Intervertebral disc disorder
Epiphyseal dysplasia, multiple, 2
Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA791246 rs_201847956

5 SubmittersRCV000477829RCV001100678RCV001489852RCV004568139
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His) SNV
Germline		 Chr1:118093260 Likely pathogenic Cranioectodermal dysplasia 2
Meniere disease		 Criteria Provided
Single Submitter
 CA1034400 rs_183758503

2 SubmittersRCV000504571RCV004568643
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) SNV
Germline		 Chr11:77130637 Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Meniere disease
Usher syndrome type 1B
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_782787126

4 SubmittersRCV000668632RCV001526681RCV001829848RCV001203639
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) SNV
Germline		 Chr2:227010313 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Meniere disease		 Criteria Provided
Single Submitter
 rs_1003748020

3 SubmittersRCV001862424RCV001029868RCV004570083
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) SNV
Germline		 Chr2:227099664 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Inborn genetic diseases
Meniere disease		 Criteria Provided
Conflicting Classifications
 rs_371717486

5 SubmittersRCV001040564RCV001274060RCV002551476RCV004570128
NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys) SNV
Germline		 Chr17:10652421 Conflicting classifications of pathogenicity Freeman-Sheldon syndrome
Distal arthrogryposis type 2B1
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 rs_147024680

3 SubmittersRCV001127224RCV001127223RCV002556780RCV004570323
NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter) SNV
Germline		 Chr11:77199601 Likely pathogenic Meniere disease Criteria Provided
Single Submitter
 rs_918353878

1 SubmittersRCV001526686
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg) SNV
Germline		 Chr1:102997090 Conflicting classifications of pathogenicity Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 rs_775660447

3 SubmittersRCV001365868RCV004570890
NM_022124.6(CDH23):c.6512G>A (p.Arg2171His) SNV
Germline		 Chr10:71793440 Conflicting classifications of pathogenicity Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 rs_531513127

2 SubmittersRCV002568142RCV001797191
NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser) SNV
Germline		 ChrX:9894539 Likely pathogenic Meniere disease Criteria Provided
Single Submitter
 rs_138558321

1 SubmittersRCV001797192