OTOG (otogelin) - Rat Genome Database
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Gene: OTOG (otogelin) Homo sapiens
Analyze
Symbol: OTOG
Name: otogelin
RGD ID: 1315323
HGNC Page HGNC
Description: Predicted to have alpha-L-arabinofuranosidase activity and structural molecule activity. Predicted to be involved in L-arabinose metabolic process; adult locomotory behavior; and sensory perception of sound. Predicted to localize to extracellular matrix and extracellular space. Implicated in autosomal recessive nonsyndromic deafness 18B.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DFNB18B; FLJ46346; mlemp; OTGN
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1117,547,373 - 17,647,150 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1117,547,259 - 17,647,150 (+)EnsemblGRCh38hg38GRCh38
GRCh381117,547,259 - 17,646,044 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371117,568,920 - 17,667,491 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361117,525,496 - 17,624,067 (+)NCBINCBI36hg18NCBI36
Build 341117,556,386 - 17,617,057NCBI
Celera1117,698,900 - 17,797,429 (+)NCBI
Cytogenetic Map11p15.1NCBI
HuRef1117,252,782 - 17,351,629 (+)NCBIHuRef
CHM1_11117,568,738 - 17,667,255 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9405633   PMID:10337628   PMID:10655058   PMID:16344560   PMID:21873635   PMID:23122587   PMID:23314748   PMID:23745134   PMID:24378291   PMID:25758224   PMID:29800624  


Genomics

Comparative Map Data
OTOG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1117,547,373 - 17,647,150 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1117,547,259 - 17,647,150 (+)EnsemblGRCh38hg38GRCh38
GRCh381117,547,259 - 17,646,044 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371117,568,920 - 17,667,491 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361117,525,496 - 17,624,067 (+)NCBINCBI36hg18NCBI36
Build 341117,556,386 - 17,617,057NCBI
Celera1117,698,900 - 17,797,429 (+)NCBI
Cytogenetic Map11p15.1NCBI
HuRef1117,252,782 - 17,351,629 (+)NCBIHuRef
CHM1_11117,568,738 - 17,667,255 (+)NCBICHM1_1
Otog
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,890,411 - 45,960,858 (+)NCBIGRCm39mm39
GRCm38746,240,987 - 46,311,434 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl746,240,987 - 46,311,434 (+)EnsemblGRCm38mm10GRCm38
MGSCv37753,496,357 - 53,566,804 (+)NCBIGRCm37mm9NCBIm37
MGSCv36746,109,029 - 46,179,476 (+)NCBImm8
Celera741,714,550 - 41,784,993 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.66NCBI
Otog
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01102,258,124 - 102,327,201 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1102,258,124 - 102,327,201 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01103,342,346 - 103,411,351 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4196,771,215 - 96,840,351 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1196,849,120 - 96,917,280 (+)NCBI
Celera190,994,972 - 91,064,101 (+)NCBICelera
Cytogenetic Map1q22NCBI
Otog
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541432,357,054 - 32,433,849 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541432,353,896 - 32,435,097 (+)NCBIChiLan1.0ChiLan1.0
OTOG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11117,287,150 - 17,386,100 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1117,287,150 - 17,386,100 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01117,601,738 - 17,701,472 (+)NCBIMhudiblu_PPA_v0panPan3
OTOG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2140,106,826 - 40,192,475 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12140,103,163 - 40,193,680 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Otog
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365281,473,842 - 1,549,586 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OTOG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl241,497,200 - 41,584,934 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1241,497,201 - 41,590,564 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2244,516,586 - 44,610,494 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OTOG
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1147,323,579 - 47,428,029 (-)NCBI
ChlSab1.1 Ensembl147,325,745 - 47,425,607 (-)Ensembl
Otog
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247669,156,036 - 9,234,200 (+)NCBI

Position Markers
D11S3021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,606,179 - 17,606,300UniSTSGRCh37
Build 361117,562,755 - 17,562,876RGDNCBI36
Celera1117,736,135 - 17,736,256RGD
Cytogenetic Map11p15.1UniSTS
HuRef1117,290,400 - 17,290,521UniSTS
D11S3582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,568,449 - 17,568,730UniSTSGRCh37
Build 361117,525,025 - 17,525,306RGDNCBI36
Celera1117,698,429 - 17,698,710RGD
Cytogenetic Map11p15.1UniSTS
HuRef1117,252,311 - 17,252,592UniSTS
D11S4043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,596,633 - 17,596,782UniSTSGRCh37
Build 361117,553,209 - 17,553,358RGDNCBI36
Celera1117,726,589 - 17,726,738RGD
Cytogenetic Map11p15.1UniSTS
HuRef1117,280,849 - 17,280,998UniSTS
D11S1122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,649,385 - 17,649,577UniSTSGRCh37
Build 361117,605,961 - 17,606,153RGDNCBI36
Celera1117,779,322 - 17,779,514RGD
Cytogenetic Map11p15.1UniSTS
HuRef1117,333,578 - 17,333,770UniSTS
D11S1032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,579,726 - 17,579,897UniSTSGRCh37
Build 361117,536,302 - 17,536,473RGDNCBI36
Celera1117,709,687 - 17,709,858RGD
Cytogenetic Map11p15.1UniSTS
HuRef1117,263,947 - 17,264,118UniSTS
D11S4199  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1117,260,945 - 17,261,123UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2014
Count of miRNA genes:902
Interacting mature miRNAs:1100
Transcripts:ENST00000342528, ENST00000399391, ENST00000399397, ENST00000428619, ENST00000485669, ENST00000498332
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 14 17
Low 10 7 232 12 2 12 107 5 244 14 399 28 1 1
Below cutoff 1560 1273 801 299 565 216 2141 1071 2825 186 507 713 84 717 1428 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001277269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001292063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC124799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB081210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB096404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB341780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EG328175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EG328176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,578,264 - 17,638,934 (+)Ensembl
RefSeq Acc Id: ENST00000399391   ⟹   ENSP00000382323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,547,373 - 17,647,150 (+)Ensembl
RefSeq Acc Id: ENST00000399397   ⟹   ENSP00000382329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,547,373 - 17,647,150 (+)Ensembl
RefSeq Acc Id: ENST00000428619   ⟹   ENSP00000399057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,548,177 - 17,553,444 (+)Ensembl
RefSeq Acc Id: ENST00000485669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,555,700 - 17,558,602 (+)Ensembl
RefSeq Acc Id: ENST00000498332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,547,927 - 17,570,604 (+)Ensembl
RefSeq Acc Id: NM_001277269   ⟹   NP_001264198
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,547,259 - 17,646,044 (+)NCBI
HuRef1117,252,782 - 17,351,629 (+)NCBI
CHM1_11117,568,738 - 17,667,255 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001292063   ⟹   NP_001278992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,547,259 - 17,646,044 (+)NCBI
CHM1_11117,568,738 - 17,667,255 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001264198 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278992 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAC87330 (Get FASTA)   NCBI Sequence Viewer  
  EAW68430 (Get FASTA)   NCBI Sequence Viewer  
  Q6ZRI0 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001264198   ⟸   NM_001277269
- Peptide Label: isoform a precursor
- UniProtKB: Q6ZRI0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001278992   ⟸   NM_001292063
- Peptide Label: isoform b precursor
- UniProtKB: H9KVB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382323   ⟸   ENST00000399391
RefSeq Acc Id: ENSP00000382329   ⟸   ENST00000399397
RefSeq Acc Id: ENSP00000399057   ⟸   ENST00000428619
Protein Domains
CTCK   EGF-like   TIL   VWFD


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001277269.1(OTOG):c.5508del (p.Ala1838fs) deletion Deafness, autosomal recessive 18b [RCV000033038] Chr11:17610769 [GRCh38]
Chr11:17632316 [GRCh37]
Chr11:11p15.1
pathogenic
NM_001277269.1(OTOG):c.6347C>T (p.Pro2116Leu) single nucleotide variant Deafness, autosomal recessive 18b [RCV000033039] Chr11:17612638 [GRCh38]
Chr11:17634185 [GRCh37]
Chr11:11p15.1
pathogenic
NM_001277269.1(OTOG):c.6559C>T (p.Arg2187Ter) single nucleotide variant Deafness, autosomal recessive 18b [RCV000033040]|not provided [RCV000760466] Chr11:17613696 [GRCh38]
Chr11:17635243 [GRCh37]
Chr11:11p15.1
pathogenic|likely pathogenic
NM_001277269.1(OTOG):c.6285G>T (p.Val2095=) single nucleotide variant not provided [RCV000728153] Chr11:17612287 [GRCh38]
Chr11:17633834 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.4862C>T (p.Pro1621Leu) single nucleotide variant not specified [RCV000602680] Chr11:17610126 [GRCh38]
Chr11:17631673 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.6973C>T (p.Pro2325Ser) single nucleotide variant not specified [RCV000603147] Chr11:17632091 [GRCh38]
Chr11:17653638 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.4009C>T (p.Arg1337Cys) single nucleotide variant not specified [RCV000520351] Chr11:17605952 [GRCh38]
Chr11:17627499 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.919G>A (p.Val307Met) single nucleotide variant not provided [RCV000521876] Chr11:17558202 [GRCh38]
Chr11:17579749 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.1389C>A (p.Phe463Leu) single nucleotide variant not specified [RCV000519284] Chr11:17560719 [GRCh38]
Chr11:17582266 [GRCh37]
Chr11:11p15.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
NM_001277269.1(OTOG):c.4444C>T (p.Pro1482Ser) single nucleotide variant Malignant melanoma [RCV000069279] Chr11:17609708 [GRCh38]
Chr11:17631255 [GRCh37]
Chr11:17587831 [NCBI36]
Chr11:11p15.1
not provided
NM_001277269.1(OTOG):c.6597G>A (p.Pro2199=) single nucleotide variant Malignant melanoma [RCV000069280] Chr11:17629165 [GRCh38]
Chr11:17650712 [GRCh37]
Chr11:17607288 [NCBI36]
Chr11:11p15.1
not provided
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
NM_001277269.1(OTOG):c.8512C>T (p.Arg2838Cys) single nucleotide variant not specified [RCV000202763] Chr11:17645578 [GRCh38]
Chr11:17667125 [GRCh37]
Chr11:11p15.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.7903G>A (p.Asp2635Asn) single nucleotide variant not specified [RCV000203141] Chr11:17638522 [GRCh38]
Chr11:17660069 [GRCh37]
Chr11:11p15.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.7003C>T (p.Arg2335Trp) single nucleotide variant Deafness, autosomal recessive 18b [RCV000185566]|not specified [RCV000601410] Chr11:17632121 [GRCh38]
Chr11:17653668 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.5092C>T (p.Gln1698Ter) single nucleotide variant not provided [RCV000579233] Chr11:17610356 [GRCh38]
Chr11:17631903 [GRCh37]
Chr11:11p15.1
pathogenic
NM_001277269.1(OTOG):c.7729+1G>A single nucleotide variant Deafness, autosomal recessive 18b [RCV000763724]|not provided [RCV000727025]|not specified [RCV000578688] Chr11:17635188 [GRCh38]
Chr11:17656735 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.8058G>A (p.Pro2686=) single nucleotide variant not provided [RCV000912188]|not specified [RCV000219490] Chr11:17640923 [GRCh38]
Chr11:17662470 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3335C>T (p.Ala1112Val) single nucleotide variant not provided [RCV000712482]|not specified [RCV000219493] Chr11:17594057 [GRCh38]
Chr11:17615604 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.2312C>T (p.Ala771Val) single nucleotide variant not specified [RCV000219612] Chr11:17573273 [GRCh38]
Chr11:17594820 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.5864C>T (p.Thr1955Met) single nucleotide variant not provided [RCV000965165]|not specified [RCV000221802] Chr11:17611128 [GRCh38]
Chr11:17632675 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.2661C>G (p.Gly887=) single nucleotide variant not specified [RCV000221811] Chr11:17578392 [GRCh38]
Chr11:17599939 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.7481-5_7482dup duplication not provided [RCV000593594]|not specified [RCV000221901] Chr11:17634837..17634838 [GRCh38]
Chr11:17656384..17656385 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.4165C>T (p.Arg1389Cys) single nucleotide variant not specified [RCV000223481] Chr11:17606108 [GRCh38]
Chr11:17627655 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7971+11G>A single nucleotide variant not specified [RCV000223529] Chr11:17639474 [GRCh38]
Chr11:17661021 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.8283C>T (p.Asn2761=) single nucleotide variant not specified [RCV000223539] Chr11:17641903 [GRCh38]
Chr11:17663450 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.431C>T (p.Ala144Val) single nucleotide variant not specified [RCV000223594] Chr11:17553374 [GRCh38]
Chr11:17574921 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.4038C>T (p.Phe1346=) single nucleotide variant not specified [RCV000215267] Chr11:17605981 [GRCh38]
Chr11:17627528 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3325-8C>G single nucleotide variant not provided [RCV000959169]|not specified [RCV000215269] Chr11:17594039 [GRCh38]
Chr11:17615586 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.1991+4C>A single nucleotide variant not specified [RCV000215300] Chr11:17570394 [GRCh38]
Chr11:17591941 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7436G>A (p.Arg2479His) single nucleotide variant not provided [RCV000712488]|not specified [RCV000215324] Chr11:17634201 [GRCh38]
Chr11:17655748 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.6329-7C>T single nucleotide variant not provided [RCV000970221]|not specified [RCV000217116] Chr11:17612613 [GRCh38]
Chr11:17634160 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.328+15C>T single nucleotide variant not specified [RCV000217202] Chr11:17552090 [GRCh38]
Chr11:17573637 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7516+11A>T single nucleotide variant not specified [RCV000219644] Chr11:17634292 [GRCh38]
Chr11:17655839 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.4624C>G (p.Leu1542Val) single nucleotide variant not specified [RCV000219721] Chr11:17609888 [GRCh38]
Chr11:17631435 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.8298C>T (p.Phe2766=) single nucleotide variant not provided [RCV000841274]|not specified [RCV000219754] Chr11:17641918 [GRCh38]
Chr11:17663465 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.7546G>A (p.Ala2516Thr) single nucleotide variant not provided [RCV000727023]|not specified [RCV000221973] Chr11:17634873 [GRCh38]
Chr11:17656420 [GRCh37]
Chr11:11p15.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.3132C>T (p.Asn1044=) single nucleotide variant not provided [RCV000953458]|not specified [RCV000221975] Chr11:17593282 [GRCh38]
Chr11:17614829 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.2755G>A (p.Ala919Thr) single nucleotide variant not specified [RCV000213095] Chr11:17578486 [GRCh38]
Chr11:17600033 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.2597+9C>T single nucleotide variant not provided [RCV000930614]|not specified [RCV000213151] Chr11:17576639 [GRCh38]
Chr11:17598186 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3270C>A (p.Thr1090=) single nucleotide variant not specified [RCV000217288] Chr11:17593702 [GRCh38]
Chr11:17615249 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.2(OTOG):c.[8526G>C] single nucleotide variant Ménière's disease [RCV001254790]|not provided [RCV000958387]|not specified [RCV000222078] Chr11:17645592 [GRCh38]
Chr11:17667139 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.5804T>C (p.Met1935Thr) single nucleotide variant not provided [RCV000844333]|not specified [RCV000213215] Chr11:17611068 [GRCh38]
Chr11:17632615 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.7497C>T (p.Cys2499=) single nucleotide variant not specified [RCV000213304] Chr11:17634262 [GRCh38]
Chr11:17655809 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7729+13C>T single nucleotide variant not specified [RCV000217371] Chr11:17635200 [GRCh38]
Chr11:17656747 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2598-14G>A single nucleotide variant not specified [RCV000217436] Chr11:17576854 [GRCh38]
Chr11:17598401 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.6255C>T (p.Pro2085=) single nucleotide variant not specified [RCV000219860] Chr11:17612257 [GRCh38]
Chr11:17633804 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.-14_-13delinsGA indel not specified [RCV000219883] Chr11:17547359..17547360 [GRCh38]
Chr11:17568906..17568907 [GRCh37]
Chr11:11p15.1
not provided
NM_001277269.1(OTOG):c.4940C>T (p.Pro1647Leu) single nucleotide variant not specified [RCV000219934] Chr11:17610204 [GRCh38]
Chr11:17631751 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.1833G>A (p.Arg611=) single nucleotide variant not provided [RCV000826984]|not specified [RCV000222226] Chr11:17570232 [GRCh38]
Chr11:17591779 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.7297A>G (p.Lys2433Glu) single nucleotide variant not specified [RCV000222240] Chr11:17633868 [GRCh38]
Chr11:17655415 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.2330-6C>T single nucleotide variant not specified [RCV000213367] Chr11:17574714 [GRCh38]
Chr11:17596261 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2808C>T (p.His936=) single nucleotide variant not provided [RCV000954136]|not specified [RCV000213386] Chr11:17586486 [GRCh38]
Chr11:17608033 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.8400G>C (p.Leu2800=) single nucleotide variant not specified [RCV000213413] Chr11:17642195 [GRCh38]
Chr11:17663742 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.1095C>T (p.Val365=) single nucleotide variant not provided [RCV000968210]|not specified [RCV000213427] Chr11:17558600 [GRCh38]
Chr11:17580147 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.4856C>T (p.Ser1619Leu) single nucleotide variant not specified [RCV000213443] Chr11:17610120 [GRCh38]
Chr11:17631667 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.5840C>T (p.Thr1947Met) single nucleotide variant not specified [RCV000217547] Chr11:17611104 [GRCh38]
Chr11:17632651 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.7416T>A (p.Asp2472Glu) single nucleotide variant not specified [RCV000217561] Chr11:17634181 [GRCh38]
Chr11:17655728 [GRCh37]
Chr11:11p15.1
likely benign|uncertain significance
NM_001277269.1(OTOG):c.7621+12G>A single nucleotide variant not specified [RCV000217602] Chr11:17634960 [GRCh38]
Chr11:17656507 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.6929G>A (p.Arg2310His) single nucleotide variant not provided [RCV000727024]|not specified [RCV000220038] Chr11:17631882 [GRCh38]
Chr11:17653429 [GRCh37]
Chr11:11p15.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.6703G>A (p.Val2235Met) single nucleotide variant not provided [RCV000726878]|not specified [RCV000213540] Chr11:17629271 [GRCh38]
Chr11:17650818 [GRCh37]
Chr11:11p15.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.3003G>A (p.Pro1001=) single nucleotide variant not provided [RCV000888946]|not specified [RCV000217637] Chr11:17591549 [GRCh38]
Chr11:17613096 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.5503G>A (p.Gly1835Ser) single nucleotide variant not specified [RCV000220098] Chr11:17610767 [GRCh38]
Chr11:17632314 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.5271C>A (p.Leu1757=) single nucleotide variant not provided [RCV000949769]|not specified [RCV000213637] Chr11:17610535 [GRCh38]
Chr11:17632082 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.6943C>T (p.Arg2315Cys) single nucleotide variant not specified [RCV000213662] Chr11:17631896 [GRCh38]
Chr11:17653443 [GRCh37]
Chr11:11p15.1
likely benign|uncertain significance
NM_001277269.1(OTOG):c.7861C>A (p.Gln2621Lys) single nucleotide variant not provided [RCV000712489]|not specified [RCV000215434] Chr11:17638480 [GRCh38]
Chr11:17660027 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.2(OTOG):c.[8405G>A] single nucleotide variant Ménière's disease [RCV001254789]|not provided [RCV000966390]|not specified [RCV000217789] Chr11:17642200 [GRCh38]
Chr11:17663747 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.5495C>G (p.Ala1832Gly) single nucleotide variant not provided [RCV000970220]|not specified [RCV000217901] Chr11:17610759 [GRCh38]
Chr11:17632306 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.675G>T (p.Glu225Asp) single nucleotide variant not provided [RCV000897659]|not specified [RCV000217916] Chr11:17555877 [GRCh38]
Chr11:17577424 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.8227-12C>A single nucleotide variant not provided [RCV000433817]|not specified [RCV000220207] Chr11:17641835 [GRCh38]
Chr11:17663382 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.8682G>A (p.Leu2894=) single nucleotide variant not provided [RCV000892877]|not specified [RCV000220291] Chr11:17645848 [GRCh38]
Chr11:17667395 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.8249G>A (p.Arg2750Gln) single nucleotide variant not specified [RCV000213825] Chr11:17641869 [GRCh38]
Chr11:17663416 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.2(OTOG):c.[6110C>T] single nucleotide variant Ménière's disease [RCV001254787]|not provided [RCV000224482]|not specified [RCV000215530] Chr11:17611374 [GRCh38]
Chr11:17632921 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.7846C>T (p.Arg2616Cys) single nucleotide variant not specified [RCV000215550] Chr11:17638465 [GRCh38]
Chr11:17660012 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.2(OTOG):c.[7667G>A] single nucleotide variant Ménière's disease [RCV001254788]|not specified [RCV000215655] Chr11:17635125 [GRCh38]
Chr11:17656672 [GRCh37]
Chr11:11p15.1
likely benign|uncertain significance
NM_001277269.1(OTOG):c.8726G>C (p.Trp2909Ser) single nucleotide variant not specified [RCV000217978] Chr11:17645892 [GRCh38]
Chr11:17667439 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.7033G>A (p.Val2345Met) single nucleotide variant Hearing loss [RCV000509298]|not specified [RCV000218003] Chr11:17632151 [GRCh38]
Chr11:17653698 [GRCh37]
Chr11:11p15.1
uncertain significance|not provided
NM_001292063.1(OTOG):c.499del (p.Val167fs) deletion Rare genetic deafness [RCV000218007]|not provided [RCV000487342] Chr11:17553477 [GRCh38]
Chr11:17575024 [GRCh37]
Chr11:11p15.1
pathogenic|likely pathogenic
NM_001277269.1(OTOG):c.4123G>C (p.Ala1375Pro) single nucleotide variant not specified [RCV000220375] Chr11:17606066 [GRCh38]
Chr11:17627613 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.5339A>G (p.Glu1780Gly) single nucleotide variant not specified [RCV000215745] Chr11:17610603 [GRCh38]
Chr11:17632150 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3561+10C>A single nucleotide variant not provided [RCV000888762]|not specified [RCV000215806] Chr11:17596164 [GRCh38]
Chr11:17617711 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.8277C>T (p.Cys2759=) single nucleotide variant not specified [RCV000218158] Chr11:17641897 [GRCh38]
Chr11:17663444 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.4048C>T (p.Arg1350Trp) single nucleotide variant not provided [RCV000443155]|not specified [RCV000218219] Chr11:17605991 [GRCh38]
Chr11:17627538 [GRCh37]
Chr11:11p15.1
likely benign|uncertain significance
NM_001277269.1(OTOG):c.8204T>C (p.Leu2735Pro) single nucleotide variant not provided [RCV000888948]|not specified [RCV000220523] Chr11:17641069 [GRCh38]
Chr11:17662616 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.7930+8C>T single nucleotide variant not specified [RCV000220545] Chr11:17638557 [GRCh38]
Chr11:17660104 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.879G>A (p.Lys293=) single nucleotide variant not provided [RCV000844316]|not specified [RCV000222338] Chr11:17557301 [GRCh38]
Chr11:17578848 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.935A>G (p.His312Arg) single nucleotide variant Deafness, autosomal recessive 18b [RCV000477952]|not specified [RCV000222362] Chr11:17558218 [GRCh38]
Chr11:17579765 [GRCh37]
Chr11:11p15.1
likely benign|uncertain significance
NM_001277269.1(OTOG):c.2868C>T (p.Phe956=) single nucleotide variant not specified [RCV000214153] Chr11:17586546 [GRCh38]
Chr11:17608093 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.4183C>T (p.Arg1395Cys) single nucleotide variant not specified [RCV000215828] Chr11:17606126 [GRCh38]
Chr11:17627673 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.2(OTOG):c.[805G>A] single nucleotide variant Ménière's disease [RCV001254782]|not provided [RCV000965164]|not specified [RCV000215874] Chr11:17557227 [GRCh38]
Chr11:17578774 [GRCh37]
Chr11:11p15.1
benign|uncertain significance
NM_001277269.1(OTOG):c.1123A>T (p.Thr375Ser) single nucleotide variant not specified [RCV000218345] Chr11:17558628 [GRCh38]
Chr11:17580175 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.7882C>T (p.Leu2628=) single nucleotide variant not specified [RCV000218389] Chr11:17638501 [GRCh38]
Chr11:17660048 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2522+7G>A single nucleotide variant not specified [RCV000220722] Chr11:17574919 [GRCh38]
Chr11:17596466 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.273C>T (p.Ser91=) single nucleotide variant not provided [RCV000712481]|not specified [RCV000220757] Chr11:17552020 [GRCh38]
Chr11:17573567 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.8071C>T (p.Arg2691Cys) single nucleotide variant not provided [RCV000712490]|not specified [RCV000222452] Chr11:17640936 [GRCh38]
Chr11:17662483 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.3224G>A (p.Arg1075Gln) single nucleotide variant not specified [RCV000214279] Chr11:17593656 [GRCh38]
Chr11:17615203 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.2489_2490insACTGGACACCCA (p.Tyr830Ter) insertion Rare genetic deafness [RCV000214336] Chr11:17574878..17574879 [GRCh38]
Chr11:17596425..17596426 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.2(OTOG):c.[4058G>A] single nucleotide variant Ménière's disease [RCV001254785]|not provided [RCV000844405]|not specified [RCV000216051] Chr11:17606001 [GRCh38]
Chr11:17627548 [GRCh37]
Chr11:11p15.1
benign|likely benign|uncertain significance
NM_001277269.1(OTOG):c.2759G>T (p.Arg920Leu) single nucleotide variant not provided [RCV000844507]|not specified [RCV000216106] Chr11:17578490 [GRCh38]
Chr11:17600037 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.7084G>A (p.Glu2362Lys) single nucleotide variant not specified [RCV000220878] Chr11:17632202 [GRCh38]
Chr11:17653749 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.5495C>T (p.Ala1832Val) single nucleotide variant not specified [RCV000220899] Chr11:17610759 [GRCh38]
Chr11:17632306 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.7571G>A (p.Arg2524His) single nucleotide variant not provided [RCV000956914]|not specified [RCV000222561] Chr11:17634898 [GRCh38]
Chr11:17656445 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.8072G>A (p.Arg2691His) single nucleotide variant not specified [RCV000216218] Chr11:17640937 [GRCh38]
Chr11:17662484 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2548G>C (p.Gly850Arg) single nucleotide variant not provided [RCV000430647]|not specified [RCV000218557] Chr11:17576581 [GRCh38]
Chr11:17598128 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.1322G>A (p.Arg441Gln) single nucleotide variant not specified [RCV000218624] Chr11:17559606 [GRCh38]
Chr11:17581153 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.724G>A (p.Ala242Thr) single nucleotide variant not provided [RCV000712486]|not specified [RCV000218697] Chr11:17557146 [GRCh38]
Chr11:17578693 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.2775G>A (p.Ser925=) single nucleotide variant not provided [RCV000844363]|not specified [RCV000221000] Chr11:17578506 [GRCh38]
Chr11:17600053 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.2134G>A (p.Ala712Thr) single nucleotide variant not provided [RCV000881491]|not specified [RCV000221031] Chr11:17573095 [GRCh38]
Chr11:17594642 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.1032+9C>A single nucleotide variant not provided [RCV000957895]|not specified [RCV000221042] Chr11:17558324 [GRCh38]
Chr11:17579871 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.7926C>T (p.Ser2642=) single nucleotide variant not specified [RCV000222743] Chr11:17638545 [GRCh38]
Chr11:17660092 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2597+10G>A single nucleotide variant not specified [RCV000222765] Chr11:17576640 [GRCh38]
Chr11:17598187 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.1976C>T (p.Thr659Met) single nucleotide variant not specified [RCV000214640] Chr11:17570375 [GRCh38]
Chr11:17591922 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.7681C>T (p.Leu2561=) single nucleotide variant not specified [RCV000216295] Chr11:17635139 [GRCh38]
Chr11:17656686 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.2434G>A (p.Asp812Asn) single nucleotide variant not provided [RCV000832618]|not specified [RCV000216432] Chr11:17574824 [GRCh38]
Chr11:17596371 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.3654C>T (p.Ser1218=) single nucleotide variant not provided [RCV000894201]|not specified [RCV000218758] Chr11:17596943 [GRCh38]
Chr11:17618490 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.4192G>A (p.Asp1398Asn) single nucleotide variant not specified [RCV000218842] Chr11:17606135 [GRCh38]
Chr11:17627682 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.3386C>T (p.Pro1129Leu) single nucleotide variant not provided [RCV000712483]|not specified [RCV000221180] Chr11:17594108 [GRCh38]
Chr11:17615655 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.2975G>C (p.Arg992Pro) single nucleotide variant not specified [RCV000221219] Chr11:17591521 [GRCh38]
Chr11:17613068 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.4057C>T (p.Arg1353Trp) single nucleotide variant not specified [RCV000221272] Chr11:17606000 [GRCh38]
Chr11:17627547 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1379-8C>T single nucleotide variant not specified [RCV000222962] Chr11:17560701 [GRCh38]
Chr11:17582248 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7366G>A (p.Gly2456Ser) single nucleotide variant not provided [RCV000712487]|not specified [RCV000222989] Chr11:17634131 [GRCh38]
Chr11:17655678 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.953C>A (p.Ala318Asp) single nucleotide variant not specified [RCV000214701] Chr11:17558236 [GRCh38]
Chr11:17579783 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.4663G>A (p.Ala1555Thr) single nucleotide variant not provided [RCV000888947]|not specified [RCV000214719] Chr11:17609927 [GRCh38]
Chr11:17631474 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.974C>T (p.Pro325Leu) single nucleotide variant not specified [RCV000214761] Chr11:17558257 [GRCh38]
Chr11:17579804 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.2597+14G>A single nucleotide variant not specified [RCV000216507] Chr11:17576644 [GRCh38]
Chr11:17598191 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.2074T>C (p.Ser692Pro) single nucleotide variant not specified [RCV000218905] Chr11:17572162 [GRCh38]
Chr11:17593709 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.1060C>T (p.Leu354=) single nucleotide variant not specified [RCV000218948] Chr11:17558565 [GRCh38]
Chr11:17580112 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1194G>A (p.Ala398=) single nucleotide variant not provided [RCV000992485]|not specified [RCV000221349] Chr11:17559106 [GRCh38]
Chr11:17580653 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.6811G>A (p.Ala2271Thr) single nucleotide variant not provided [RCV000886810]|not specified [RCV000221438] Chr11:17631764 [GRCh38]
Chr11:17653311 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.3710G>A (p.Arg1237His) single nucleotide variant not provided [RCV000949967]|not specified [RCV000223037] Chr11:17596999 [GRCh38]
Chr11:17618546 [GRCh37]
Chr11:11p15.1
benign
NM_001292063.2(OTOG):c.4162_4179del (p.Lys1388_Ala1393del) deletion not specified [RCV000223042] Chr11:17608297..17608314 [GRCh38]
Chr11:17629848..17629865 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.563G>C (p.Ser188Thr) single nucleotide variant not specified [RCV000223112] Chr11:17553506 [GRCh38]
Chr11:17575053 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3387G>A (p.Pro1129=) single nucleotide variant not provided [RCV000971922]|not specified [RCV000214826] Chr11:17594109 [GRCh38]
Chr11:17615656 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.2(OTOG):c.[3719C>T] single nucleotide variant Ménière's disease [RCV001254784]|not provided [RCV000969361]|not specified [RCV000214949] Chr11:17599671 [GRCh38]
Chr11:17621218 [GRCh37]
Chr11:11p15.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.4206G>A (p.Ser1402=) single nucleotide variant not specified [RCV000214961] Chr11:17608309 [GRCh38]
Chr11:17629856 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1433T>G (p.Phe478Cys) single nucleotide variant not specified [RCV000216653] Chr11:17560763 [GRCh38]
Chr11:17582310 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.5087C>T (p.Pro1696Leu) single nucleotide variant not specified [RCV000219039] Chr11:17610351 [GRCh38]
Chr11:17631898 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.8018_8019delinsAT (p.Ala2673Asp) indel not provided [RCV000767213]|not specified [RCV000221473] Chr11:17640919..17640920 [GRCh38]
Chr11:17662466..17662467 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.3396A>G (p.Leu1132=) single nucleotide variant not specified [RCV000221498] Chr11:17594118 [GRCh38]
Chr11:17615665 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.328+10A>T single nucleotide variant not specified [RCV000221534] Chr11:17552085 [GRCh38]
Chr11:17573632 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.1078G>A (p.Ala360Thr) single nucleotide variant not provided [RCV000992484]|not specified [RCV000223180] Chr11:17558583 [GRCh38]
Chr11:17580130 [GRCh37]
Chr11:11p15.1
likely benign|uncertain significance
NM_001277269.1(OTOG):c.2310C>T (p.Arg770=) single nucleotide variant not provided [RCV000992487]|not specified [RCV000223187] Chr11:17573271 [GRCh38]
Chr11:17594818 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.421+7C>T single nucleotide variant not provided [RCV000959168]|not specified [RCV000223268] Chr11:17553218 [GRCh38]
Chr11:17574765 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.1251T>C (p.Thr417=) single nucleotide variant not provided [RCV000884583]|not specified [RCV000214995] Chr11:17559535 [GRCh38]
Chr11:17581082 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.8578-8C>T single nucleotide variant not provided [RCV000881811]|not specified [RCV000215021] Chr11:17645736 [GRCh38]
Chr11:17667283 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.7098T>C (p.Ser2366=) single nucleotide variant not provided [RCV000992492]|not specified [RCV000215092] Chr11:17632216 [GRCh38]
Chr11:17653763 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.8074G>A (p.Glu2692Lys) single nucleotide variant not specified [RCV000215119] Chr11:17640939 [GRCh38]
Chr11:17662486 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.2(OTOG):c.[421G>A] single nucleotide variant Ménière's disease [RCV001254781]|not specified [RCV000216800] Chr11:17553211 [GRCh38]
Chr11:17574758 [GRCh37]
Chr11:11p15.1
likely pathogenic|uncertain significance
NM_001277269.1(OTOG):c.5849C>T (p.Thr1950Met) single nucleotide variant not specified [RCV000216818] Chr11:17611113 [GRCh38]
Chr11:17632660 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2376G>A (p.Pro792=) single nucleotide variant not specified [RCV000216856] Chr11:17574766 [GRCh38]
Chr11:17596313 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.3444+15C>T single nucleotide variant not provided [RCV000843111]|not specified [RCV000219166] Chr11:17594181 [GRCh38]
Chr11:17615728 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.371C>G (p.Ala124Gly) single nucleotide variant not provided [RCV000959057]|not specified [RCV000219197] Chr11:17553161 [GRCh38]
Chr11:17574708 [GRCh37]
Chr11:11p15.1
likely benign|uncertain significance
NM_001277269.1(OTOG):c.1220A>C (p.Gln407Pro) single nucleotide variant Deafness, autosomal recessive 18b [RCV000763722]|not specified [RCV000221656] Chr11:17559132 [GRCh38]
Chr11:17580679 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7729+14A>T single nucleotide variant not specified [RCV000221662] Chr11:17635201 [GRCh38]
Chr11:17656748 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.5288G>A (p.Arg1763His) single nucleotide variant not specified [RCV000223365] Chr11:17610552 [GRCh38]
Chr11:17632099 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3459C>T (p.Leu1153=) single nucleotide variant not provided [RCV000836555]|not specified [RCV000223380] Chr11:17596052 [GRCh38]
Chr11:17617599 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.8011G>A (p.Val2671Met) single nucleotide variant not specified [RCV000215131] Chr11:17640784 [GRCh38]
Chr11:17662331 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1321C>T (p.Arg441Trp) single nucleotide variant not provided [RCV000907613]|not specified [RCV000216963] Chr11:17559605 [GRCh38]
Chr11:17581152 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.2(OTOG):c.[4642C>T] single nucleotide variant Ménière's disease [RCV001254786]|not provided [RCV000992489]|not specified [RCV000217004] Chr11:17609906 [GRCh38]
Chr11:17631453 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.6215G>T (p.Arg2072Leu) single nucleotide variant not specified [RCV000217027] Chr11:17612217 [GRCh38]
Chr11:17633764 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.131G>A (p.Arg44Gln) single nucleotide variant not provided [RCV000842053]|not specified [RCV000219313] Chr11:17547503 [GRCh38]
Chr11:17569050 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.4283G>A (p.Arg1428Gln) single nucleotide variant not specified [RCV000219318] Chr11:17608386 [GRCh38]
Chr11:17629933 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.8381C>T (p.Thr2794Met) single nucleotide variant not specified [RCV000219443] Chr11:17642176 [GRCh38]
Chr11:17663723 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.8689C>T (p.Arg2897Cys) single nucleotide variant not provided [RCV000224504]|not specified [RCV000825418] Chr11:17645855 [GRCh38]
Chr11:17667402 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7045G>C (p.Val2349Leu) single nucleotide variant Hearing impairment [RCV001254959]|not provided [RCV000897249]|not specified [RCV000239199] Chr11:17632163 [GRCh38]
Chr11:17653710 [GRCh37]
Chr11:11p15.1
benign|uncertain significance
NM_001277269.1(OTOG):c.3042+11G>A single nucleotide variant not specified [RCV000605743] Chr11:17591599 [GRCh38]
Chr11:17613146 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.530C>A (p.Thr177Asn) single nucleotide variant not specified [RCV000604658] Chr11:17553473 [GRCh38]
Chr11:17575020 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.4806G>T (p.Arg1602Ser) single nucleotide variant not specified [RCV000606156] Chr11:17610070 [GRCh38]
Chr11:17631617 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.6215G>A (p.Arg2072His) single nucleotide variant Deafness, autosomal recessive 18b [RCV000763723]|not provided [RCV000766973]|not specified [RCV000523753] Chr11:17612217 [GRCh38]
Chr11:17633764 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.8031C>T (p.Cys2677=) single nucleotide variant not provided [RCV000595395]|not specified [RCV000825217] Chr11:17640804 [GRCh38]
Chr11:17662351 [GRCh37]
Chr11:11p15.1
likely benign|uncertain significance
NM_001277269.1(OTOG):c.4282C>T (p.Arg1428Trp) single nucleotide variant not specified [RCV000602749] Chr11:17608385 [GRCh38]
Chr11:17629932 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.76C>T (p.Leu26=) single nucleotide variant not specified [RCV000601095] Chr11:17547448 [GRCh38]
Chr11:17568995 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3870G>A (p.Val1290=) single nucleotide variant not specified [RCV000603663] Chr11:17602334 [GRCh38]
Chr11:17623881 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1842C>T (p.Ser614=) single nucleotide variant not specified [RCV000603969] Chr11:17570241 [GRCh38]
Chr11:17591788 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1491A>G (p.Thr497=) single nucleotide variant not specified [RCV000599856] Chr11:17561094 [GRCh38]
Chr11:17582641 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.8577+5G>A single nucleotide variant not specified [RCV000606159] Chr11:17645648 [GRCh38]
Chr11:17667195 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.486A>G (p.Thr162=) single nucleotide variant not provided [RCV000730491] Chr11:17553429 [GRCh38]
Chr11:17574976 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.6217G>A (p.Val2073Met) single nucleotide variant not provided [RCV000596135] Chr11:17612219 [GRCh38]
Chr11:17633766 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7686C>T (p.Ile2562=) single nucleotide variant not provided [RCV000956929]|not specified [RCV000592688] Chr11:17635144 [GRCh38]
Chr11:17656691 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.4693G>T (p.Gly1565Ter) single nucleotide variant Rare genetic deafness [RCV000600685]|not provided [RCV000760670] Chr11:17609957 [GRCh38]
Chr11:17631504 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.1(OTOG):c.1041C>G (p.Tyr347Ter) single nucleotide variant not provided [RCV000578759] Chr11:17558546 [GRCh38]
Chr11:17580093 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.1(OTOG):c.330C>G (p.Tyr110Ter) single nucleotide variant Deafness, autosomal recessive 18b [RCV000593230] Chr11:17553120 [GRCh38]
Chr11:17574667 [GRCh37]
Chr11:11p15.1
pathogenic
NM_001277269.1(OTOG):c.2907G>A (p.Val969=) single nucleotide variant not provided [RCV000593251] Chr11:17591453 [GRCh38]
Chr11:17613000 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.973C>A (p.Pro325Thr) single nucleotide variant not provided [RCV000727248]|not specified [RCV000593340] Chr11:17558256 [GRCh38]
Chr11:17579803 [GRCh37]
Chr11:11p15.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.7518_7519dup (p.Asn2508Valfs) duplication not specified [RCV000593594] Chr11:17634845..17634846 [GRCh38]
Chr11:17656386..17656392 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.3434C>T (p.Ala1145Val) single nucleotide variant not specified [RCV000599655] Chr11:17594156 [GRCh38]
Chr11:17615703 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2421G>T (p.Gly807=) single nucleotide variant not provided [RCV000591080] Chr11:17574811 [GRCh38]
Chr11:17596358 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.1086C>T (p.His362=) single nucleotide variant not specified [RCV000605308] Chr11:17558591 [GRCh38]
Chr11:17580138 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.6591G>A (p.Trp2197Ter) single nucleotide variant Rare genetic deafness [RCV000608772] Chr11:17629159 [GRCh38]
Chr11:17650706 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del deletion Rare genetic deafness [RCV000609156] Chr11:17605796..17612832 [GRCh38]
Chr11:17627343..17634379 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.1(OTOG):c.2904-3C>T single nucleotide variant not provided [RCV000735058] Chr11:17591447 [GRCh38]
Chr11:17612994 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.6816G>A (p.Glu2272=) single nucleotide variant not provided [RCV000728417] Chr11:17631769 [GRCh38]
Chr11:17653316 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7778C>T (p.Ala2593Val) single nucleotide variant not provided [RCV000731185] Chr11:17635658 [GRCh38]
Chr11:17657205 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.636_638CTT[1] (p.Phe214del) microsatellite not provided [RCV000732183] Chr11:17555837..17555839 [GRCh38]
Chr11:17577384..17577386 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.6611G>T (p.Gly2204Val) single nucleotide variant not provided [RCV000728748] Chr11:17629179 [GRCh38]
Chr11:17650726 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.6441C>T (p.Thr2147=) single nucleotide variant not provided [RCV000733964] Chr11:17612732 [GRCh38]
Chr11:17634279 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.4762A>G (p.Thr1588Ala) single nucleotide variant not provided [RCV000734682] Chr11:17610026 [GRCh38]
Chr11:17631573 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.2693C>T (p.Thr898Met) single nucleotide variant Hearing impairment [RCV001254958]|not provided [RCV000594674] Chr11:17578424 [GRCh38]
Chr11:17599971 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.8698C>T (p.Gln2900Ter) single nucleotide variant not provided [RCV000732819] Chr11:17645864 [GRCh38]
Chr11:17667411 [GRCh37]
Chr11:11p15.1
uncertain significance
GRCh37/hg19 11p15.1(chr11:16820813-18103432)x3 copy number gain See cases [RCV000449180] Chr11:16820813..18103432 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7570C>T (p.Arg2524Cys) single nucleotide variant not specified [RCV000522896] Chr11:17634897 [GRCh38]
Chr11:17656444 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.1099C>T (p.Pro367Ser) single nucleotide variant not provided [RCV000418950] Chr11:17558604 [GRCh38]
Chr11:17580151 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.3371A>G (p.Asn1124Ser) single nucleotide variant not provided [RCV000483924] Chr11:17594093 [GRCh38]
Chr11:17615640 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.952G>A (p.Ala318Thr) single nucleotide variant Deafness, autosomal recessive 18b [RCV000477795] Chr11:17558235 [GRCh38]
Chr11:17579782 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) single nucleotide variant Deafness, autosomal recessive 18b [RCV000477813]|Rare genetic deafness [RCV000616086]|Seizures [RCV001007897]|not provided [RCV000578779] Chr11:17574890 [GRCh38]
Chr11:17596437 [GRCh37]
Chr11:11p15.1
pathogenic|likely pathogenic
NM_001277269.1(OTOG):c.5381T>C (p.Leu1794Pro) single nucleotide variant Deafness, autosomal recessive 18b [RCV000477881]|not specified [RCV000603253] Chr11:17610645 [GRCh38]
Chr11:17632192 [GRCh37]
Chr11:11p15.1
likely benign|uncertain significance
NM_001277269.1(OTOG):c.1876C>T (p.Arg626Trp) single nucleotide variant Deafness, autosomal recessive 18b [RCV000477895]|not specified [RCV000611217] Chr11:17570275 [GRCh38]
Chr11:17591822 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.4877C>T (p.Pro1626Leu) single nucleotide variant Deafness, autosomal recessive 18b [RCV000477896] Chr11:17610141 [GRCh38]
Chr11:17631688 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.433G>A (p.Gly145Ser) single nucleotide variant Deafness, autosomal recessive 18b [RCV000477901]|not specified [RCV000609295] Chr11:17553376 [GRCh38]
Chr11:17574923 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.3704C>T (p.Thr1235Ile) single nucleotide variant not provided [RCV000483239] Chr11:17596993 [GRCh38]
Chr11:17618540 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.5416C>T (p.Arg1806Cys) single nucleotide variant not provided [RCV000497668] Chr11:17610680 [GRCh38]
Chr11:17632227 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.328+4A>C single nucleotide variant not provided [RCV000766727]|not specified [RCV000497858] Chr11:17552079 [GRCh38]
Chr11:17573626 [GRCh37]
Chr11:11p15.1
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.1(chr11:17658844-17744407)x4 copy number gain See cases [RCV000511843] Chr11:17658844..17744407 [GRCh37]
Chr11:11p15.1
uncertain significance
GRCh37/hg19 11p15.1(chr11:17142196-18014467)x3 copy number gain See cases [RCV000511047] Chr11:17142196..18014467 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.3700C>T (p.Arg1234Ter) single nucleotide variant not provided [RCV000578615] Chr11:17596989 [GRCh38]
Chr11:17618536 [GRCh37]
Chr11:11p15.1
pathogenic|likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001277269.1(OTOG):c.2819G>A (p.Cys940Tyr) single nucleotide variant not provided [RCV000523523] Chr11:17586497 [GRCh38]
Chr11:17608044 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7453C>T (p.Arg2485Ter) single nucleotide variant Deafness, autosomal recessive 18b [RCV000624828] Chr11:17634218 [GRCh38]
Chr11:17655765 [GRCh37]
Chr11:11p15.1
pathogenic
NM_001277269.1(OTOG):c.8040C>T (p.Tyr2680=) single nucleotide variant not provided [RCV000898088]|not specified [RCV000607205] Chr11:17640813 [GRCh38]
Chr11:17662360 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2330-7A>G single nucleotide variant not specified [RCV000607216] Chr11:17574713 [GRCh38]
Chr11:17596260 [GRCh37]
Chr11:11p15.1
conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.7902C>T (p.Pro2634=) single nucleotide variant not provided [RCV000890136]|not specified [RCV000603589] Chr11:17638521 [GRCh38]
Chr11:17660068 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7621+2T>C single nucleotide variant Rare genetic deafness [RCV000603000] Chr11:17634950 [GRCh38]
Chr11:17656497 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.1(OTOG):c.8248C>T (p.Arg2750Trp) single nucleotide variant not provided [RCV000595089] Chr11:17641868 [GRCh38]
Chr11:17663415 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.3493C>T (p.Arg1165Ter) single nucleotide variant Rare genetic deafness [RCV000614011] Chr11:17596086 [GRCh38]
Chr11:17617633 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.1(OTOG):c.3114G>A (p.Arg1038=) single nucleotide variant not specified [RCV000600373] Chr11:17593264 [GRCh38]
Chr11:17614811 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.5256A>C (p.Pro1752=) single nucleotide variant not specified [RCV000606693] Chr11:17610520 [GRCh38]
Chr11:17632067 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.8607C>T (p.Cys2869=) single nucleotide variant not specified [RCV000606760] Chr11:17645773 [GRCh38]
Chr11:17667320 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7694G>C (p.Arg2565Pro) single nucleotide variant not specified [RCV000606922] Chr11:17635152 [GRCh38]
Chr11:17656699 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7081A>G (p.Ile2361Val) single nucleotide variant not provided [RCV000972819]|not specified [RCV000520779] Chr11:17632199 [GRCh38]
Chr11:17653746 [GRCh37]
Chr11:11p15.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.4049G>A (p.Arg1350Gln) single nucleotide variant not provided [RCV000594083] Chr11:17605992 [GRCh38]
Chr11:17627539 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7459G>C (p.Gly2487Arg) single nucleotide variant not specified [RCV000607363] Chr11:17634224 [GRCh38]
Chr11:17655771 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.1968T>C (p.Asn656=) single nucleotide variant not specified [RCV000607722] Chr11:17570367 [GRCh38]
Chr11:17591914 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.6073C>T (p.Arg2025Cys) single nucleotide variant not specified [RCV000602475] Chr11:17611337 [GRCh38]
Chr11:17632884 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.4871G>A (p.Arg1624His) single nucleotide variant not provided [RCV000727281]|not specified [RCV000595483] Chr11:17610135 [GRCh38]
Chr11:17631682 [GRCh37]
Chr11:11p15.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001277269.1(OTOG):c.1829G>A (p.Arg610His) single nucleotide variant not specified [RCV000612114] Chr11:17570228 [GRCh38]
Chr11:17591775 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.4932G>A (p.Thr1644=) single nucleotide variant not specified [RCV000612187] Chr11:17610196 [GRCh38]
Chr11:17631743 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1376A>G (p.Asn459Ser) single nucleotide variant not provided [RCV000901952]|not specified [RCV000614935] Chr11:17559660 [GRCh38]
Chr11:17581207 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.7758C>A (p.Pro2586=) single nucleotide variant not specified [RCV000615093] Chr11:17635638 [GRCh38]
Chr11:17657185 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.4677G>T (p.Glu1559Asp) single nucleotide variant not specified [RCV000615159] Chr11:17609941 [GRCh38]
Chr11:17631488 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.6042G>A (p.Pro2014=) single nucleotide variant not specified [RCV000615201] Chr11:17611306 [GRCh38]
Chr11:17632853 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1599C>G (p.Pro533=) single nucleotide variant not specified [RCV000601383] Chr11:17561726 [GRCh38]
Chr11:17583273 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.4857G>A (p.Ser1619=) single nucleotide variant not provided [RCV000828317]|not specified [RCV000609827] Chr11:17610121 [GRCh38]
Chr11:17631668 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7183G>A (p.Gly2395Arg) single nucleotide variant not specified [RCV000609897] Chr11:17633754 [GRCh38]
Chr11:17655301 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.3265A>G (p.Ile1089Val) single nucleotide variant not specified [RCV000612495] Chr11:17593697 [GRCh38]
Chr11:17615244 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.4618A>T (p.Thr1540Ser) single nucleotide variant not specified [RCV000615458] Chr11:17609882 [GRCh38]
Chr11:17631429 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.6386C>T (p.Ala2129Val) single nucleotide variant not specified [RCV000615710] Chr11:17612677 [GRCh38]
Chr11:17634224 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7400C>A (p.Thr2467Asn) single nucleotide variant not specified [RCV000601593] Chr11:17634165 [GRCh38]
Chr11:17655712 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.495G>T (p.Gly165=) single nucleotide variant not specified [RCV000609980] Chr11:17553438 [GRCh38]
Chr11:17574985 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.8334C>A (p.Pro2778=) single nucleotide variant not specified [RCV000610074] Chr11:17642129 [GRCh38]
Chr11:17663676 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2367C>T (p.Cys789=) single nucleotide variant not specified [RCV000612736] Chr11:17574757 [GRCh38]
Chr11:17596304 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.6362T>C (p.Val2121Ala) single nucleotide variant not specified [RCV000615911] Chr11:17612653 [GRCh38]
Chr11:17634200 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.6557A>G (p.Asn2186Ser) single nucleotide variant not specified [RCV000606174] Chr11:17613694 [GRCh38]
Chr11:17635241 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7578C>G (p.Leu2526=) single nucleotide variant not specified [RCV000612905] Chr11:17634905 [GRCh38]
Chr11:17656452 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.8508T>C (p.Asp2836=) single nucleotide variant not specified [RCV000612998] Chr11:17645574 [GRCh38]
Chr11:17667121 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.1(OTOG):c.94+75G>T single nucleotide variant not specified [RCV000616159] Chr11:17547541 [GRCh38]
Chr11:17569088 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3474G>A (p.Met1158Ile) single nucleotide variant not specified [RCV000616206] Chr11:17596067 [GRCh38]
Chr11:17617614 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.6551G>A (p.Arg2184His) single nucleotide variant not specified [RCV000607372] Chr11:17613688 [GRCh38]
Chr11:17635235 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.819G>T (p.Met273Ile) single nucleotide variant not specified [RCV000613038] Chr11:17557241 [GRCh38]
Chr11:17578788 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2947G>A (p.Ala983Thr) single nucleotide variant not specified [RCV000613105] Chr11:17591493 [GRCh38]
Chr11:17613040 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.2903+6T>G single nucleotide variant not specified [RCV000602348] Chr11:17586587 [GRCh38]
Chr11:17608134 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.3855G>A (p.Ala1285=) single nucleotide variant not specified [RCV000610514] Chr11:17602319 [GRCh38]
Chr11:17623866 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1582C>T (p.Arg528Cys) single nucleotide variant not specified [RCV000616403] Chr11:17561709 [GRCh38]
Chr11:17583256 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.2921C>T (p.Ser974Leu) single nucleotide variant not specified [RCV000616500] Chr11:17591467 [GRCh38]
Chr11:17613014 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.21G>A (p.Ala7=) single nucleotide variant not provided [RCV000968209]|not specified [RCV000602564] Chr11:17547393 [GRCh38]
Chr11:17568940 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.3053A>T (p.Asp1018Val) single nucleotide variant not specified [RCV000610620] Chr11:17593203 [GRCh38]
Chr11:17614750 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7995G>A (p.Glu2665=) single nucleotide variant not specified [RCV000613384] Chr11:17640768 [GRCh38]
Chr11:17662315 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3562-12G>C single nucleotide variant not specified [RCV000613499] Chr11:17596839 [GRCh38]
Chr11:17618386 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.8358C>T (p.Cys2786=) single nucleotide variant not specified [RCV000616720] Chr11:17642153 [GRCh38]
Chr11:17663700 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.915C>T (p.Asp305=) single nucleotide variant not provided [RCV000938502]|not specified [RCV000616727] Chr11:17558198 [GRCh38]
Chr11:17579745 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1608T>C (p.Cys536=) single nucleotide variant not specified [RCV000610988] Chr11:17561735 [GRCh38]
Chr11:17583282 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.14C>T (p.Ala5Val) single nucleotide variant not specified [RCV000611036] Chr11:17547386 [GRCh38]
Chr11:17568933 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.5027A>T (p.His1676Leu) single nucleotide variant not specified [RCV000613843] Chr11:17610291 [GRCh38]
Chr11:17631838 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.2523-5dup duplication not specified [RCV000616965] Chr11:17576544..17576545 [GRCh38]
Chr11:17598091..17598092 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7621+11C>T single nucleotide variant not specified [RCV000600862] Chr11:17634959 [GRCh38]
Chr11:17656506 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.8463C>T (p.Ser2821=) single nucleotide variant not specified [RCV000608466] Chr11:17643472 [GRCh38]
Chr11:17665019 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.570C>T (p.Ser190=) single nucleotide variant not provided [RCV000962114]|not specified [RCV000608607] Chr11:17553513 [GRCh38]
Chr11:17575060 [GRCh37]
Chr11:11p15.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001277269.1(OTOG):c.8256C>T (p.Leu2752=) single nucleotide variant not specified [RCV000608670] Chr11:17641876 [GRCh38]
Chr11:17663423 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1659G>A (p.Leu553=) single nucleotide variant not specified [RCV000614067] Chr11:17561786 [GRCh38]
Chr11:17583333 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.4274G>A (p.Arg1425Gln) single nucleotide variant not provided [RCV000885546]|not specified [RCV000611546] Chr11:17608377 [GRCh38]
Chr11:17629924 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.1(OTOG):c.407C>T (p.Pro136Leu) single nucleotide variant not specified [RCV000614361] Chr11:17553197 [GRCh38]
Chr11:17574744 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1249+14A>C single nucleotide variant not specified [RCV000608993] Chr11:17559175 [GRCh38]
Chr11:17580722 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3975C>T (p.Ala1325=) single nucleotide variant not specified [RCV000603708] Chr11:17605918 [GRCh38]
Chr11:17627465 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7389A>C (p.Gln2463His) single nucleotide variant not provided [RCV000920813]|not specified [RCV000614697] Chr11:17634154 [GRCh38]
Chr11:17655701 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3372T>C (p.Asn1124=) single nucleotide variant not specified [RCV000604189] Chr11:17594094 [GRCh38]
Chr11:17615641 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2423T>C (p.Val808Ala) single nucleotide variant not specified [RCV000604629] Chr11:17574813 [GRCh38]
Chr11:17596360 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.8613C>T (p.Ser2871=) single nucleotide variant not specified [RCV000604053] Chr11:17645779 [GRCh38]
Chr11:17667326 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7729+11G>A single nucleotide variant not specified [RCV000607162] Chr11:17635198 [GRCh38]
Chr11:17656745 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3395T>C (p.Leu1132Pro) single nucleotide variant not specified [RCV000604848] Chr11:17594117 [GRCh38]
Chr11:17615664 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.4096C>A (p.Pro1366Thr) single nucleotide variant not specified [RCV000605542] Chr11:17606039 [GRCh38]
Chr11:17627586 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7653G>T (p.Leu2551=) single nucleotide variant not specified [RCV000607681] Chr11:17635111 [GRCh38]
Chr11:17656658 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.8161G>A (p.Asp2721Asn) single nucleotide variant not specified [RCV000602323] Chr11:17641026 [GRCh38]
Chr11:17662573 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.1140-4A>C single nucleotide variant not provided [RCV000909082]|not specified [RCV000605109] Chr11:17559048 [GRCh38]
Chr11:17580595 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.6329-3C>G single nucleotide variant not specified [RCV000605213] Chr11:17612617 [GRCh38]
Chr11:17634164 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.6015G>A (p.Ser2005=) single nucleotide variant not specified [RCV000599941] Chr11:17611279 [GRCh38]
Chr11:17632826 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.94G>A (p.Gly32Ser) single nucleotide variant not provided [RCV000595663] Chr11:17547466 [GRCh38]
Chr11:17569013 [GRCh37]
Chr11:11p15.1
uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
NM_001277269.1(OTOG):c.7304-7T>A single nucleotide variant not provided [RCV000596136] Chr11:17634062 [GRCh38]
Chr11:17655609 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.7389dup (p.Ala2464fs) duplication Rare genetic deafness [RCV000610410] Chr11:17634152..17634153 [GRCh38]
Chr11:17655699..17655700 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.1(OTOG):c.2329+8C>T single nucleotide variant not specified [RCV000600224] Chr11:17573298 [GRCh38]
Chr11:17594845 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.4902C>T (p.Val1634=) single nucleotide variant not provided [RCV000841254]|not specified [RCV000606002] Chr11:17610166 [GRCh38]
Chr11:17631713 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.2020C>T (p.Pro674Ser) single nucleotide variant not specified [RCV000600972] Chr11:17572108 [GRCh38]
Chr11:17593655 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.6715A>G (p.Lys2239Glu) single nucleotide variant not provided [RCV000598029] Chr11:17629283 [GRCh38]
Chr11:17650830 [GRCh37]
Chr11:11p15.1
uncertain significance
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_001277269.1(OTOG):c.2499C>G (p.Thr833=) single nucleotide variant not specified [RCV000601072] Chr11:17574889 [GRCh38]
Chr11:17596436 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3300C>T (p.His1100=) single nucleotide variant not specified [RCV000606506] Chr11:17593732 [GRCh38]
Chr11:17615279 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.576+8C>T single nucleotide variant not specified [RCV000601099] Chr11:17553527 [GRCh38]
Chr11:17575074 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7235del (p.Cys2412fs) deletion Deafness [RCV000679830] Chr11:17633806 [GRCh38]
Chr11:17655353 [GRCh37]
Chr11:11p15.1
pathogenic
GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1 copy number loss not provided [RCV000683355] Chr11:17527585..18606820 [GRCh37]
Chr11:11p15.1
uncertain significance
GRCh37/hg19 11p15.1(chr11:17120357-17579212)x3 copy number gain not provided [RCV000683336] Chr11:17120357..17579212 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.3445-2A>G single nucleotide variant not provided [RCV000712484] Chr11:17596036 [GRCh38]
Chr11:17617583 [GRCh37]
Chr11:11p15.1
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001277269.1(OTOG):c.7896G>A (p.Trp2632Ter) single nucleotide variant Deafness, autosomal recessive 18b [RCV000761323] Chr11:17638515 [GRCh38]
Chr11:17660062 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.1(OTOG):c.5020G>T (p.Gly1674Ter) single nucleotide variant Rare genetic deafness [RCV000826211]|not provided [RCV000761765] Chr11:17610284 [GRCh38]
Chr11:17631831 [GRCh37]
Chr11:11p15.1
pathogenic|likely pathogenic
NM_001292063.2(OTOG):c.5121T>G (p.Val1707=) single nucleotide variant not provided [RCV000949968] Chr11:17610421 [GRCh38]
Chr11:17631968 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.8190+8G>A single nucleotide variant not provided [RCV000899097] Chr11:17641099 [GRCh38]
Chr11:17662646 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.1560C>T (p.Phe520=) single nucleotide variant not provided [RCV000924219] Chr11:17561723 [GRCh38]
Chr11:17583270 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.6012C>T (p.Asp2004=) single nucleotide variant not provided [RCV000925082]|not specified [RCV001195584] Chr11:17611312 [GRCh38]
Chr11:17632859 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001277269.2(OTOG):c.2250C>T (p.Cys750=) single nucleotide variant not provided [RCV000883976] Chr11:17573211 [GRCh38]
Chr11:17594758 [GRCh37]
Chr11:11p15.1
benign
NC_000011.10:g.(?_17533688)_(17645944_?)dup duplication not provided [RCV001033624] Chr11:17555235..17667491 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.5549C>G (p.Pro1850Arg) single nucleotide variant not provided [RCV000842055]|not specified [RCV000825078] Chr11:17610849 [GRCh38]
Chr11:17632396 [GRCh37]
Chr11:11p15.1
benign|likely benign
NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile) single nucleotide variant not specified [RCV000825215] Chr11:17631816 [GRCh38]
Chr11:17653363 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.7422C>T (p.Phe2474=) single nucleotide variant not specified [RCV000825219] Chr11:17634223 [GRCh38]
Chr11:17655770 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.8326C>T (p.Arg2776Cys) single nucleotide variant not specified [RCV000825420] Chr11:17642157 [GRCh38]
Chr11:17663704 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.5918C>T (p.Thr1973Met) single nucleotide variant not specified [RCV000825421] Chr11:17611218 [GRCh38]
Chr11:17632765 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.8718C>G (p.Thr2906=) single nucleotide variant not provided [RCV000920862] Chr11:17645920 [GRCh38]
Chr11:17667467 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.7962G>A (p.Glu2654=) single nucleotide variant not provided [RCV000925172] Chr11:17640771 [GRCh38]
Chr11:17662318 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.7800T>C (p.Cys2600=) single nucleotide variant not provided [RCV000916055] Chr11:17638455 [GRCh38]
Chr11:17660002 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.7557G>A (p.Glu2519=) single nucleotide variant not provided [RCV000919635] Chr11:17634920 [GRCh38]
Chr11:17656467 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.3336G>A (p.Ala1112=) single nucleotide variant not provided [RCV000841813] Chr11:17594058 [GRCh38]
Chr11:17615605 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.7827G>A (p.Gln2609=) single nucleotide variant not provided [RCV000976099] Chr11:17638482 [GRCh38]
Chr11:17660029 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.7767G>A (p.Thr2589=) single nucleotide variant not specified [RCV000825214] Chr11:17635683 [GRCh38]
Chr11:17657230 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.16T>C (p.Ser6Pro) single nucleotide variant not specified [RCV000825218] Chr11:17547388 [GRCh38]
Chr11:17568935 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.1051G>A (p.Ala351Thr) single nucleotide variant not specified [RCV000825079] Chr11:17558592 [GRCh38]
Chr11:17580139 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.1796T>C (p.Ile599Thr) single nucleotide variant not provided [RCV000839999] Chr11:17569271 [GRCh38]
Chr11:17590818 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1680+69G>A single nucleotide variant not provided [RCV000842794] Chr11:17561876 [GRCh38]
Chr11:17583423 [GRCh37]
Chr11:11p15.1
benign
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) duplication Rare genetic deafness [RCV000825539] Chr11:17611220..17611221 [GRCh38]
Chr11:17632767..17632768 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.1(OTOG):c.627T>G (p.Ala209=) single nucleotide variant not provided [RCV000840152] Chr11:17555829 [GRCh38]
Chr11:17577376 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1359C>T (p.Asp453=) single nucleotide variant not provided [RCV000840153] Chr11:17559643 [GRCh38]
Chr11:17581190 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly) single nucleotide variant not specified [RCV000826001] Chr11:17552067 [GRCh38]
Chr11:17573614 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.3183A>C (p.Thr1061=) single nucleotide variant not specified [RCV000825212] Chr11:17593651 [GRCh38]
Chr11:17615198 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.7209C>T (p.Ser2403=) single nucleotide variant not specified [RCV000825213] Chr11:17633816 [GRCh38]
Chr11:17655363 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1405G>A (p.Val469Met) single nucleotide variant not provided [RCV000832880] Chr11:17560735 [GRCh38]
Chr11:17582282 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.8498-55T>C single nucleotide variant not provided [RCV000836556] Chr11:17645509 [GRCh38]
Chr11:17667056 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser) single nucleotide variant not specified [RCV000825080] Chr11:17553137 [GRCh38]
Chr11:17574684 [GRCh37]
Chr11:11p15.1
benign
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile) single nucleotide variant not specified [RCV000825216] Chr11:17611392 [GRCh38]
Chr11:17632939 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.764C>T (p.Ser255Leu) single nucleotide variant not specified [RCV000826000] Chr11:17557222 [GRCh38]
Chr11:17578769 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.1033-35A>C single nucleotide variant not provided [RCV000842793] Chr11:17558503 [GRCh38]
Chr11:17580050 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.7930+85G>A single nucleotide variant not provided [RCV000842811] Chr11:17638634 [GRCh38]
Chr11:17660181 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.3325-38A>C single nucleotide variant not provided [RCV000842880] Chr11:17594009 [GRCh38]
Chr11:17615556 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.6328+54G>A single nucleotide variant not provided [RCV000843091] Chr11:17612384 [GRCh38]
Chr11:17633931 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.1(OTOG):c.3561+37C>T single nucleotide variant not provided [RCV000843180] Chr11:17596191 [GRCh38]
Chr11:17617738 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.6160-73G>T single nucleotide variant not provided [RCV000843181] Chr11:17612089 [GRCh38]
Chr11:17633636 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.7930+33G>A single nucleotide variant not provided [RCV000843182] Chr11:17638582 [GRCh38]
Chr11:17660129 [GRCh37]
Chr11:11p15.1
benign
GRCh37/hg19 11p15.1(chr11:16775884-18418719)x3 copy number gain not provided [RCV000848590] Chr11:16775884..18418719 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.2(OTOG):c.175-197G>A single nucleotide variant not provided [RCV000992483] Chr11:17547938 [GRCh38]
Chr11:17569485 [GRCh37]
Chr11:11p15.1
benign
NM_001292063.2(OTOG):c.3053G>A (p.Cys1018Tyr) single nucleotide variant not provided [RCV001090233] Chr11:17593239 [GRCh38]
Chr11:17614786 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.3177C>T (p.Val1059=) single nucleotide variant not specified [RCV000825211] Chr11:17593645 [GRCh38]
Chr11:17615192 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.2113A>G (p.Thr705Ala) single nucleotide variant not specified [RCV000825419] Chr11:17573110 [GRCh38]
Chr11:17594657 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.1(OTOG):c.2919C>T (p.Gly973=) single nucleotide variant not provided [RCV000827323] Chr11:17591465 [GRCh38]
Chr11:17613012 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.1(OTOG):c.1991+90G>A single nucleotide variant not provided [RCV000842054] Chr11:17570480 [GRCh38]
Chr11:17592027 [GRCh37]
Chr11:11p15.1
benign
NM_001292063.2(OTOG):c.5694A>G (p.Val1898=) single nucleotide variant not provided [RCV000897248] Chr11:17610994 [GRCh38]
Chr11:17632541 [GRCh37]
Chr11:11p15.1
benign
NM_001292063.2(OTOG):c.7723G>A (p.Glu2575Lys) single nucleotide variant not provided [RCV001090234] Chr11:17635639 [GRCh38]
Chr11:17657186 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.2(OTOG):c.5088C>T (p.Pro1696=) single nucleotide variant not provided [RCV000992490] Chr11:17610352 [GRCh38]
Chr11:17631899 [GRCh37]
Chr11:11p15.1
benign
GRCh37/hg19 11p15.1(chr11:16436272-18064677)x3 copy number gain not provided [RCV000848487] Chr11:16436272..18064677 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001277269.2(OTOG):c.401C>T (p.Thr134Ile) single nucleotide variant not provided [RCV000992488] Chr11:17553191 [GRCh38]
Chr11:17574738 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.432del (p.Gln145fs) deletion not provided [RCV001008895] Chr11:17553407 [GRCh38]
Chr11:17574954 [GRCh37]
Chr11:11p15.1
pathogenic
NM_001292063.2(OTOG):c.94+76C>T single nucleotide variant not specified [RCV001195514] Chr11:17547542 [GRCh38]
Chr11:17569089 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.5408C>A (p.Pro1803His) single nucleotide variant not specified [RCV001195515] Chr11:17610708 [GRCh38]
Chr11:17632255 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.1641C>T (p.Gly547=) single nucleotide variant not specified [RCV001195586] Chr11:17561804 [GRCh38]
Chr11:17583351 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.3740G>A (p.Ser1247Asn) single nucleotide variant not provided [RCV000994578] Chr11:17602240 [GRCh38]
Chr11:17623787 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.1125C>G (p.Thr375=) single nucleotide variant not specified [RCV001195587] Chr11:17559073 [GRCh38]
Chr11:17580620 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp) single nucleotide variant not specified [RCV001195624] Chr11:17552045 [GRCh38]
Chr11:17573592 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro) single nucleotide variant not specified [RCV001195625] Chr11:17574776 [GRCh38]
Chr11:17596323 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) single nucleotide variant not provided [RCV001090232] Chr11:17569177 [GRCh38]
Chr11:17590724 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001277269.2(OTOG):c.4298G>A (p.Arg1433Gln) single nucleotide variant not provided [RCV000908706] Chr11:17608401 [GRCh38]
Chr11:17629948 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.2(OTOG):c.8574C>T (p.Thr2858=) single nucleotide variant not provided [RCV000910838] Chr11:17645640 [GRCh38]
Chr11:17667187 [GRCh37]
Chr11:11p15.1
likely benign
NM_001277269.2(OTOG):c.175-159C>G single nucleotide variant not provided [RCV000992486] Chr11:17547976 [GRCh38]
Chr11:17569523 [GRCh37]
Chr11:11p15.1
benign
NM_001277269.2(OTOG):c.5468C>T (p.Ala1823Val) single nucleotide variant not provided [RCV000992491] Chr11:17610732 [GRCh38]
Chr11:17632279 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.441C>T (p.His147=) single nucleotide variant not provided [RCV000933962] Chr11:17553420 [GRCh38]
Chr11:17574967 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.5919G>A (p.Thr1973=) single nucleotide variant not provided [RCV000933963] Chr11:17611219 [GRCh38]
Chr11:17632766 [GRCh37]
Chr11:11p15.1
benign
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13
pathogenic
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1
pathogenic
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) deletion Deafness, autosomal recessive 18b [RCV001089570] Chr11:17634219 [GRCh38]
Chr11:17655766 [GRCh37]
Chr11:11p15.1
likely pathogenic
NM_001292063.2(OTOG):c.6181G>T (p.Val2061Leu) single nucleotide variant not specified [RCV001195517] Chr11:17612219 [GRCh38]
Chr11:17633766 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.6712G>A (p.Gly2238Ser) single nucleotide variant not specified [RCV001195626] Chr11:17629316 [GRCh38]
Chr11:17650863 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.2080+5G>C single nucleotide variant not specified [RCV001195622] Chr11:17572209 [GRCh38]
Chr11:17593756 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.2782T>C (p.Cys928Arg) single nucleotide variant not specified [RCV001195516] Chr11:17586496 [GRCh38]
Chr11:17608043 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.379C>T (p.Gln127Ter) single nucleotide variant Rare genetic deafness [RCV001195541] Chr11:17553205 [GRCh38]
Chr11:17574752 [GRCh37]
Chr11:11p15.1
pathogenic
NM_001292063.2(OTOG):c.8287C>T (p.Leu2763=) single nucleotide variant not specified [RCV001195585] Chr11:17641943 [GRCh38]
Chr11:17663490 [GRCh37]
Chr11:11p15.1
likely benign
NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys) single nucleotide variant not specified [RCV001195623] Chr11:17629212 [GRCh38]
Chr11:17650759 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.421C>T (p.Arg141Trp) single nucleotide variant not specified [RCV001195627] Chr11:17553400 [GRCh38]
Chr11:17574947 [GRCh37]
Chr11:11p15.1
uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_001292063.2(OTOG):c.2203C>A (p.Pro735Thr) single nucleotide variant Ménière's disease [RCV001254783] Chr11:17573200 [GRCh38]
Chr11:17594747 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.2561+1del deletion Deafness, autosomal recessive 18b [RCV001254600] Chr11:17576630 [GRCh38]
Chr11:17598177 [GRCh37]
Chr11:11p15.1
likely pathogenic
GRCh37/hg19 11p15.1(chr11:17461542-17773192)x3 copy number gain not provided [RCV001259579] Chr11:17461542..17773192 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.996G>T (p.Gln332His) single nucleotide variant Deafness, autosomal recessive 18b [RCV001258337] Chr11:17558315 [GRCh38]
Chr11:17579862 [GRCh37]
Chr11:11p15.1
uncertain significance
NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly) single nucleotide variant Deafness, autosomal recessive 18b [RCV001269339] Chr11:17610738 [GRCh38]
Chr11:17632285 [GRCh37]
Chr11:11p15.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8516 AgrOrtholog
COSMIC OTOG COSMIC
Ensembl Genes ENSG00000188162 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000382323 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382329 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000399057 UniProtKB/TrEMBL
Ensembl Transcript ENST00000399391 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399397 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000428619 UniProtKB/TrEMBL
GTEx ENSG00000188162 GTEx
HGNC ID HGNC:8516 ENTREZGENE
Human Proteome Map OTOG Human Proteome Map
InterPro AbfB_ABD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AbfB_ABD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cys_knot_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Otogelin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_inhib-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIL_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unchr_dom_Cys-rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_type-D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:340990 UniProtKB/Swiss-Prot
NCBI Gene 340990 ENTREZGENE
OMIM 604487 OMIM
  614945 OMIM
PANTHER PTHR11339:SF228 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AbfB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF08742 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32842 PharmGKB
PROSITE CTCK_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00041 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00832 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC_out UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF110221 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57567 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.688380 ENTREZGENE
UniProt C9IZ84_HUMAN UniProtKB/TrEMBL
  H9KVB3 ENTREZGENE, UniProtKB/TrEMBL
  OTOG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8MTX6 UniProtKB/Swiss-Prot
  A8MUJ0 UniProtKB/Swiss-Prot
  B7WPC4 UniProtKB/Swiss-Prot