TMC1 (transmembrane channel like 1) - Rat Genome Database

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Gene: TMC1 (transmembrane channel like 1) Homo sapiens
Analyze
Symbol: TMC1
Name: transmembrane channel like 1
RGD ID: 1318596
HGNC Page HGNC:16513
Description: Predicted to enable mechanosensitive monoatomic ion channel activity and voltage-gated calcium channel activity. Involved in detection of mechanical stimulus involved in sensory perception of sound. Predicted to be located in external side of plasma membrane and stereocilium tip. Implicated in autosomal dominant nonsyndromic deafness 36; autosomal recessive nonsyndromic deafness 7; and sensorineural hearing loss.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DFNA36; DFNB11; DFNB7; transmembrane channel-like 1; transmembrane channel-like protein 1; transmembrane cochlear-expressed protein 1; transmembrane, cochlear expressed, 1
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
GRCh38972,521,608 - 72,838,297 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl972,521,608 - 72,838,297 (+)EnsemblGRCh38hg38GRCh38
GRCh37975,136,524 - 75,453,213 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36974,326,537 - 74,641,087 (+)NCBINCBI36Build 36hg18NCBI36
Build 34972,366,270 - 72,680,821NCBI
Celera945,709,595 - 46,024,123 (+)NCBICelera
Cytogenetic Map9q21.13NCBI
HuRef944,959,937 - 45,274,606 (+)NCBIHuRef
CHM1_1975,283,347 - 75,597,903 (+)NCBICHM1_1
T2T-CHM13v2.0984,672,507 - 84,989,215 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Kurima K, etal., Nat Genet. 2002 Mar;30(3):277-84. Epub 2002 Feb 19.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8634715   PMID:8755925   PMID:11850623   PMID:12477932   PMID:12812529   PMID:14702039   PMID:15605408   PMID:16287143   PMID:17877751   PMID:18259073   PMID:18616530   PMID:18976975  
PMID:19180119   PMID:19187973   PMID:20301607   PMID:20373850   PMID:20379614   PMID:20447146   PMID:21145461   PMID:21250555   PMID:21252500   PMID:21873635   PMID:22288896   PMID:23523375  
PMID:23690975   PMID:24416283   PMID:24827932   PMID:24933710   PMID:25423259   PMID:25458163   PMID:25560804   PMID:26079994   PMID:26226225   PMID:26822030   PMID:26879195   PMID:27798174  
PMID:28330616   PMID:28700943   PMID:28821934   PMID:28862181   PMID:29270100   PMID:29321360   PMID:29533536   PMID:29692870   PMID:30021884   PMID:30585266   PMID:30613966   PMID:30945288  
PMID:31176026   PMID:31854501   PMID:32802042   PMID:33168709   PMID:33205915   PMID:33824189   PMID:33961781   PMID:34523024   PMID:35089886   PMID:36542715   PMID:38066485  


Genomics

Comparative Map Data
TMC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38972,521,608 - 72,838,297 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl972,521,608 - 72,838,297 (+)EnsemblGRCh38hg38GRCh38
GRCh37975,136,524 - 75,453,213 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36974,326,537 - 74,641,087 (+)NCBINCBI36Build 36hg18NCBI36
Build 34972,366,270 - 72,680,821NCBI
Celera945,709,595 - 46,024,123 (+)NCBICelera
Cytogenetic Map9q21.13NCBI
HuRef944,959,937 - 45,274,606 (+)NCBIHuRef
CHM1_1975,283,347 - 75,597,903 (+)NCBICHM1_1
T2T-CHM13v2.0984,672,507 - 84,989,215 (+)NCBIT2T-CHM13v2.0
Tmc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391920,760,820 - 20,931,566 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1920,760,822 - 20,931,566 (-)EnsemblGRCm39 Ensembl
GRCm381920,783,456 - 21,037,126 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1920,783,458 - 20,954,202 (-)EnsemblGRCm38mm10GRCm38
MGSCv371920,857,948 - 21,028,692 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361920,851,751 - 21,021,299 (-)NCBIMGSCv36mm8
Celera1921,504,691 - 21,681,769 (-)NCBICelera
Cytogenetic Map19BNCBI
cM Map1913.98NCBI
Tmc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81227,701,781 - 227,872,534 (-)NCBIGRCr8
mRatBN7.21218,275,249 - 218,446,013 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1218,276,417 - 218,445,955 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1226,704,373 - 226,886,796 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01233,640,940 - 233,823,358 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01226,458,957 - 226,641,395 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01238,336,919 - 238,525,792 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1238,336,919 - 238,441,500 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01245,706,178 - 245,816,628 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01245,633,195 - 245,678,137 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41223,911,499 - 224,108,034 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11224,075,517 - 224,193,990 (-)NCBI
Celera1215,544,754 - 215,710,467 (-)NCBICelera
Cytogenetic Map1q51NCBI
Tmc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955434398,829 - 529,810 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955434398,734 - 500,378 (-)NCBIChiLan1.0ChiLan1.0
TMC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21171,709,074 - 72,028,283 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1971,715,008 - 72,034,211 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0951,974,326 - 52,200,228 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1971,310,247 - 71,620,858 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl971,400,783 - 71,620,858 (+)Ensemblpanpan1.1panPan2
TMC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1185,041,039 - 85,159,607 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl185,041,574 - 85,187,369 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha185,506,885 - 85,601,896 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0185,491,047 - 85,586,140 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl185,491,544 - 85,637,265 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1185,259,912 - 85,354,773 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0184,963,710 - 85,058,783 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0185,722,917 - 85,817,907 (-)NCBIUU_Cfam_GSD_1.0
Tmc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947132,346,646 - 132,503,539 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365038,719,540 - 8,825,795 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365038,669,465 - 8,826,340 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1225,929,109 - 226,109,469 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11225,714,601 - 226,111,045 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21252,241,161 - 252,655,554 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11283,672,786 - 83,883,985 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1283,735,988 - 83,877,251 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603872,127,719 - 72,312,549 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473694,840 - 203,597 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473693,146 - 563,264 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMC1
627 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_138691.3(TMC1):c.16+1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000004322] Chr9:72648665 [GRCh38]
Chr9:75263581 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.352G>T (p.Glu118Ter) single nucleotide variant Hearing impairment [RCV001526646]|not provided [RCV003771625] Chr9:72700633 [GRCh38]
Chr9:75315549 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001658237]|Hearing impairment [RCV001526647]|not provided [RCV001581178] Chr9:72772492 [GRCh38]
Chr9:75387408 [GRCh37]
Chr9:9q21.13		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138691.3(TMC1):c.1753_1754insA (p.Gly585fs) insertion Hearing loss, autosomal recessive [RCV001291478] Chr9:72816200..72816201 [GRCh38]
Chr9:75431116..75431117 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000004318]|Rare genetic deafness [RCV000217542]|not provided [RCV001810830] Chr9:72816161 [GRCh38]
Chr9:75431077 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV003987310]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000004319]|Hearing loss, autosomal recessive [RCV001291357]|Rare genetic deafness [RCV000211859]|not provided [RCV000756783] Chr9:72694578 [GRCh38]
Chr9:75309494 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.1960A>G (p.Met654Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000004320] Chr9:72821038 [GRCh38]
Chr9:75435954 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1714G>C (p.Asp572His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000004321] Chr9:72816161 [GRCh38]
Chr9:75431077 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000004323]|Hearing loss, autosomal recessive [RCV001291367] Chr9:72792329 [GRCh38]
Chr9:75407245 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_138691.3(TMC1):c.1019T>C (p.Met340Thr) single nucleotide variant not provided [RCV003718113]|not specified [RCV000041124] Chr9:72788473 [GRCh38]
Chr9:75403389 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser) single nucleotide variant Inborn genetic diseases [RCV003343618]|not provided [RCV002274902]|not specified [RCV000041125] Chr9:72789163 [GRCh38]
Chr9:75404079 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) single nucleotide variant Rare genetic deafness [RCV000041126]|not provided [RCV000596838] Chr9:72789258 [GRCh38]
Chr9:75404174 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1224+5G>A single nucleotide variant not specified [RCV000041127] Chr9:72789322 [GRCh38]
Chr9:75404238 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1369T>C (p.Phe457Leu) single nucleotide variant not specified [RCV000041128] Chr9:72792030 [GRCh38]
Chr9:75406946 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu) single nucleotide variant not provided [RCV001561443]|not specified [RCV000041129] Chr9:72694619 [GRCh38]
Chr9:75309535 [GRCh37]
Chr9:9q21.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000350979]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000288900]|not provided [RCV000993331]|not specified [RCV000041130] Chr9:72792243 [GRCh38]
Chr9:75407159 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166569]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166570]|not provided [RCV001807767]|not specified [RCV000041131] Chr9:72694623 [GRCh38]
Chr9:75309539 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1602C>G (p.Thr534=) single nucleotide variant not provided [RCV002054800]|not specified [RCV000041132] Chr9:72805417 [GRCh38]
Chr9:75420333 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000303152]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000262110]|not provided [RCV002054801]|not specified [RCV000041133] Chr9:72816160 [GRCh38]
Chr9:75431076 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_138691.3(TMC1):c.1763+3A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001542674]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000760983]|Nonsyndromic Hearing Loss, Dominant [RCV000357976]|Rare genetic deafness [RCV000041134]|not provided [RCV000293958] Chr9:72816213 [GRCh38]
Chr9:75431129 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic|likely benign
NM_138691.3(TMC1):c.1988A>G (p.Asp663Gly) single nucleotide variant not specified [RCV000041135] Chr9:72821066 [GRCh38]
Chr9:75435982 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2044G>C (p.Glu682Gln) single nucleotide variant not specified [RCV000041136] Chr9:72826909 [GRCh38]
Chr9:75441825 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr) single nucleotide variant Inborn genetic diseases [RCV003258660]|not specified [RCV000041137] Chr9:72826933 [GRCh38]
Chr9:75441849 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001169137]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001169138]|Autosomal recessive nonsyndromic hearing loss 7 [RCV002490577]|not provided [RCV001723626]|not specified [RCV000041138] Chr9:72830465 [GRCh38]
Chr9:75445381 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.241G>A (p.Glu81Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000371206]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000314308]|not provided [RCV002054802]|not specified [RCV000041139] Chr9:72700522 [GRCh38]
Chr9:75315438 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) microsatellite Nonsyndromic Hearing Loss, Dominant [RCV000344685]|Nonsyndromic Hearing Loss, Recessive [RCV000392033]|not provided [RCV001575375]|not specified [RCV000041140] Chr9:72700518..72700520 [GRCh38]
Chr9:75315434..75315436 [GRCh37]
Chr9:9q21.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138691.3(TMC1):c.339G>A (p.Met113Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001168317]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001168316]|not provided [RCV001588860]|not specified [RCV000041141] Chr9:72700620 [GRCh38]
Chr9:75315536 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.403G>A (p.Gly135Arg) single nucleotide variant not specified [RCV000041142] Chr9:72740159 [GRCh38]
Chr9:75355075 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000274209]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000313087]|not provided [RCV000954948]|not specified [RCV000041143] Chr9:72740177 [GRCh38]
Chr9:75355093 [GRCh37]
Chr9:9q21.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138691.3(TMC1):c.45C>T (p.Asp15=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000341193]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000283802]|not provided [RCV002054803]|not specified [RCV000041144] Chr9:72688737 [GRCh38]
Chr9:75303653 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.483G>A (p.Glu161=) single nucleotide variant not specified [RCV000041145] Chr9:72742473 [GRCh38]
Chr9:75357389 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.674C>T (p.Pro225Leu) single nucleotide variant Rare genetic deafness [RCV000041146]|not provided [RCV002513572] Chr9:72754817 [GRCh38]
Chr9:75369733 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001169053]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001169054]|not provided [RCV003727611]|not specified [RCV000041147] Chr9:72772431 [GRCh38]
Chr9:75387347 [GRCh37]
Chr9:9q21.13		 benign|likely benign|uncertain significance
NM_138691.3(TMC1):c.791G>C (p.Arg264Pro) single nucleotide variant not specified [RCV000041148] Chr9:72772462 [GRCh38]
Chr9:75387378 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.841G>T (p.Gly281Trp) single nucleotide variant not specified [RCV000041149] Chr9:72772512 [GRCh38]
Chr9:75387428 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1 copy number loss See cases [RCV000052906] Chr9:72224348..77332127 [GRCh38]
Chr9:74839264..79947043 [GRCh37]
Chr9:74029084..79136863 [NCBI36]
Chr9:9q21.13-21.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_138691.3(TMC1):c.1363T>C (p.Tyr455His) single nucleotide variant Hearing loss, autosomal recessive [RCV001291366] Chr9:72792024 [GRCh38]
Chr9:75406940 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1810C>T (p.Arg604Ter) single nucleotide variant Hearing loss, autosomal recessive [RCV001291480]|not provided [RCV003556292] Chr9:72820888 [GRCh38]
Chr9:75435804 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.2035G>A (p.Glu679Lys) single nucleotide variant Hearing loss, autosomal recessive [RCV001291481] Chr9:72826900 [GRCh38]
Chr9:75441816 [GRCh37]
Chr9:9q21.13		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9q21.13(chr9:72466189-72852368)x3 copy number gain See cases [RCV000140686] Chr9:72466189..72852368 [GRCh38]
Chr9:75081105..75467284 [GRCh37]
Chr9:74270925..74657104 [NCBI36]
Chr9:9q21.13		 likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166638]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000778889]|Hearing loss, autosomal recessive [RCV001291365]|Nonsyndromic genetic hearing loss [RCV003317102]|Rare genetic deafness [RCV000155854]|TMC1-related condition [RCV003390849]|not provided [RCV000407406] Chr9:72791994 [GRCh38]
Chr9:75406910 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138691.3(TMC1):c.215_219dup (p.Arg74fs) duplication Rare genetic deafness [RCV000156220] Chr9:72694692..72694693 [GRCh38]
Chr9:75309608..75309609 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.7C>A (p.Pro3Thr) single nucleotide variant not specified [RCV000156234] Chr9:72648655 [GRCh38]
Chr9:75263571 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.777T>C (p.Tyr259=) single nucleotide variant not provided [RCV003764928]|not specified [RCV000152035] Chr9:72772448 [GRCh38]
Chr9:75387364 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1225-8C>T single nucleotide variant not provided [RCV002516060]|not specified [RCV000152036] Chr9:72791878 [GRCh38]
Chr9:75406794 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1532C>A (p.Pro511His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001808419]|not specified [RCV000152038] Chr9:72792318 [GRCh38]
Chr9:75407234 [GRCh37]
Chr9:9q21.13		 likely pathogenic|uncertain significance
NM_138691.3(TMC1):c.1404+4A>G single nucleotide variant not specified [RCV000152039] Chr9:72792069 [GRCh38]
Chr9:75406985 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1567-14T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000766065]|not provided [RCV002514934]|not specified [RCV000152040] Chr9:72805368 [GRCh38]
Chr9:75420284 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.1796G>A (p.Gly599Asp) single nucleotide variant not specified [RCV000152042] Chr9:72820874 [GRCh38]
Chr9:75435790 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1992T>G (p.Cys664Trp) single nucleotide variant not specified [RCV000152043] Chr9:72821070 [GRCh38]
Chr9:75435986 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.*1T>A single nucleotide variant not specified [RCV000152045] Chr9:72835974 [GRCh38]
Chr9:75450890 [GRCh37]
Chr9:9q21.13		 not provided
NM_138691.3(TMC1):c.*15G>A single nucleotide variant not specified [RCV000152046] Chr9:72835988 [GRCh38]
Chr9:75450904 [GRCh37]
Chr9:9q21.13		 not provided
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166153]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166152]|not provided [RCV002056079]|not specified [RCV000155293] Chr9:72791924 [GRCh38]
Chr9:75406840 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter) single nucleotide variant not provided [RCV001850127]|not specified [RCV000155294] Chr9:72830652 [GRCh38]
Chr9:75445568 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile) single nucleotide variant not provided [RCV001753541]|not specified [RCV000152037] Chr9:72791894 [GRCh38]
Chr9:75406810 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001169136]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001169135]|not provided [RCV000729025]|not specified [RCV000152044] Chr9:72826935 [GRCh38]
Chr9:75441851 [GRCh37]
Chr9:9q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138691.3(TMC1):c.557C>G (p.Ala186Gly) single nucleotide variant not specified [RCV000155596] Chr9:72751871 [GRCh38]
Chr9:75366787 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.22del (p.Ile8fs) deletion Rare genetic deafness [RCV000155718] Chr9:72688712 [GRCh38]
Chr9:75303628 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1022A>C (p.Asn341Thr) single nucleotide variant not specified [RCV000155735] Chr9:72788476 [GRCh38]
Chr9:75403392 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_138691.3(TMC1):c.1253T>A (p.Met418Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000162325] Chr9:72791914 [GRCh38]
Chr9:75406830 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.2(TMC1):c.237_239delAGA (p.Glu83del) deletion not specified [RCV000180376] Chr9:72700518..72700520 [GRCh38]
Chr9:75315434..75315436 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000778151]|Hearing loss, autosomal recessive [RCV001291360]|not provided [RCV000268431] Chr9:72789207 [GRCh38]
Chr9:75404123 [GRCh37]
Chr9:9q21.13		 likely pathogenic|uncertain significance
NM_138691.3(TMC1):c.1018A>G (p.Met340Val) single nucleotide variant Inborn genetic diseases [RCV002518209]|not provided [RCV002518208]|not specified [RCV000223470] Chr9:72788472 [GRCh38]
Chr9:75403388 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter) single nucleotide variant Rare genetic deafness [RCV000219905]|not provided [RCV001288079] Chr9:72805491 [GRCh38]
Chr9:75420407 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1236del (p.Met413fs) deletion Autosomal recessive nonsyndromic hearing loss 7 [RCV001824690]|Rare genetic deafness [RCV000217598]|not provided [RCV000413125] Chr9:72791896 [GRCh38]
Chr9:75406812 [GRCh37]
Chr9:9q21.13		 pathogenic|not provided
NM_138691.3(TMC1):c.1902C>G (p.Asn634Lys) single nucleotide variant not specified [RCV000220237] Chr9:72820980 [GRCh38]
Chr9:75435896 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.884+2dup duplication not specified [RCV000213908] Chr9:72772556..72772557 [GRCh38]
Chr9:75387472..75387473 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001197463]|Rare genetic deafness [RCV000215864]|not provided [RCV000416069] Chr9:72789234 [GRCh38]
Chr9:75404150 [GRCh37]
Chr9:9q21.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138691.3(TMC1):c.1705A>G (p.Thr569Ala) single nucleotide variant not provided [RCV001853490]|not specified [RCV000215959] Chr9:72816152 [GRCh38]
Chr9:75431068 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1677G>A (p.Trp559Ter) single nucleotide variant Rare genetic deafness [RCV000214242]|not provided [RCV002517527] Chr9:72805492 [GRCh38]
Chr9:75420408 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1566+8C>T single nucleotide variant not provided [RCV002057151]|not specified [RCV000222556] Chr9:72792360 [GRCh38]
Chr9:75407276 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000225028]|Rare genetic deafness [RCV000221167]|not provided [RCV001782704] Chr9:72821017 [GRCh38]
Chr9:75435933 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.15dup (p.Val6fs) duplication Autosomal recessive nonsyndromic hearing loss 7 [RCV000225071] Chr9:72648657..72648658 [GRCh38]
Chr9:75263573..75263574 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.229del (p.Arg77fs) deletion Autosomal recessive nonsyndromic hearing loss 7 [RCV000225099] Chr9:72694707 [GRCh38]
Chr9:75309623 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000381063]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000347264]|not provided [RCV000514897] Chr9:72788378 [GRCh38]
Chr9:75403294 [GRCh37]
Chr9:9q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.13(chr9:75161655-75429310)x1 copy number loss See cases [RCV000240567] Chr9:75161655..75429310 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.742-12G>A single nucleotide variant not specified [RCV000247801] Chr9:72772401 [GRCh38]
Chr9:75387317 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.795A>C (p.Thr265=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000267479]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000320526]|not provided [RCV001698131] Chr9:72772466 [GRCh38]
Chr9:75387382 [GRCh37]
Chr9:9q21.13		 benign|likely benign|uncertain significance
NM_138691.3(TMC1):c.-350C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000268838]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000326274] Chr9:72577979 [GRCh38]
Chr9:75192895 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2204A>C (p.Lys735Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000382265]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000322877] Chr9:72830525 [GRCh38]
Chr9:75445441 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2261-15_2261-14del deletion Nonsyndromic Hearing Loss, Dominant [RCV000328559]|Nonsyndromic Hearing Loss, Recessive [RCV000269045] Chr9:72835935..72835936 [GRCh38]
Chr9:75450851..75450852 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.*51G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000348263]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000389087] Chr9:72836024 [GRCh38]
Chr9:75450940 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.*183A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000360853]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000306082] Chr9:72836156 [GRCh38]
Chr9:75451072 [GRCh37]
Chr9:9q21.13		 benign|likely benign|uncertain significance
NM_138691.3(TMC1):c.1608C>T (p.Tyr536=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000392367]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000349895]|not provided [RCV002058806] Chr9:72805423 [GRCh38]
Chr9:75420339 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.910G>A (p.Gly304Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000377451]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000289948] Chr9:72788364 [GRCh38]
Chr9:75403280 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.-468G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000308929]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000365775] Chr9:72521873 [GRCh38]
Chr9:75136789 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.473G>A (p.Arg158His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000356134]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000259345]|Inborn genetic diseases [RCV002523801]|TMC1-related condition [RCV003409561]|not provided [RCV000993333] Chr9:72742463 [GRCh38]
Chr9:75357379 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.237-5T>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000310869]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000392045]|not provided [RCV002523800] Chr9:72700513 [GRCh38]
Chr9:75315429 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.*28A>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000383195]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000293371]|not provided [RCV001591041] Chr9:72836001 [GRCh38]
Chr9:75450917 [GRCh37]
Chr9:9q21.13		 benign|likely benign|uncertain significance
NM_138691.3(TMC1):c.1584A>G (p.Thr528=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000311345]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000390512]|TMC1-related condition [RCV003950306]|not provided [RCV003766111] Chr9:72805399 [GRCh38]
Chr9:75420315 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.-540C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000406852]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000357912] Chr9:72521801 [GRCh38]
Chr9:75136717 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_138691.3(TMC1):c.-329C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000277135]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000369363] Chr9:72578000 [GRCh38]
Chr9:75192916 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_138691.3(TMC1):c.*93C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000335591]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000294748] Chr9:72836066 [GRCh38]
Chr9:75450982 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.-219A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000280216]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000372425] Chr9:72616454 [GRCh38]
Chr9:75231370 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.-220C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000320039]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000280588] Chr9:72616453 [GRCh38]
Chr9:75231369 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000356923]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000297440]|not provided [RCV002524603] Chr9:72805424 [GRCh38]
Chr9:75420340 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000378595]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000316961]|not provided [RCV001584100] Chr9:72754846 [GRCh38]
Chr9:75369762 [GRCh37]
Chr9:9q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138691.3(TMC1):c.*106G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000281324]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000399154]|not provided [RCV001572318] Chr9:72836079 [GRCh38]
Chr9:75450995 [GRCh37]
Chr9:9q21.13		 benign|likely benign|uncertain significance
NM_138691.3(TMC1):c.*156T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000340945]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000407049]|not provided [RCV001561561] Chr9:72836129 [GRCh38]
Chr9:75451045 [GRCh37]
Chr9:9q21.13		 benign|likely benign|uncertain significance
NM_138691.3(TMC1):c.-124T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000342203]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000390124] Chr9:72627992 [GRCh38]
Chr9:75242908 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.956C>G (p.Thr319Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV002494874]|not provided [RCV000271834] Chr9:72788410 [GRCh38]
Chr9:75403326 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr) single nucleotide variant not provided [RCV000312108] Chr9:72805437 [GRCh38]
Chr9:75420353 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.265T>C (p.Leu89=) single nucleotide variant not provided [RCV000350813] Chr9:72700546 [GRCh38]
Chr9:75315462 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.603T>G (p.Val201=) single nucleotide variant not provided [RCV000294381] Chr9:72751917 [GRCh38]
Chr9:75366833 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.534A>T (p.Glu178Asp) single nucleotide variant not provided [RCV000406173] Chr9:72742524 [GRCh38]
Chr9:75357440 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2004-44A>C single nucleotide variant not provided [RCV001564313] Chr9:72826825 [GRCh38]
Chr9:75441741 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2130-1del deletion not provided [RCV000599369] Chr9:72830450 [GRCh38]
Chr9:75445366 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.472C>T (p.Arg158Cys) single nucleotide variant not provided [RCV001764721]|not specified [RCV000602711] Chr9:72742462 [GRCh38]
Chr9:75357378 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2050G>A (p.Asp684Asn) single nucleotide variant not provided [RCV000415824] Chr9:72826915 [GRCh38]
Chr9:75441831 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2177C>T (p.Ala726Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001169139]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166206]|not provided [RCV000729982] Chr9:72830498 [GRCh38]
Chr9:75445414 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.830A>G (p.Tyr277Cys) single nucleotide variant not provided [RCV000734147] Chr9:72772501 [GRCh38]
Chr9:75387417 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.65-10C>T single nucleotide variant not provided [RCV000734848] Chr9:72694533 [GRCh38]
Chr9:75309449 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000454230] Chr9:72792318 [GRCh38]
Chr9:75407234 [GRCh37]
Chr9:9q21.13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.13(chr9:75161655-75253728)x3 copy number gain See cases [RCV000446117] Chr9:75161655..75253728 [GRCh37]
Chr9:9q21.13		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.13(chr9:75109261-75179368)x1 copy number loss See cases [RCV000448576] Chr9:75109261..75179368 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.624C>A (p.Ser208Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000477752] Chr9:72751938 [GRCh38]
Chr9:75366854 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.938T>C (p.Phe313Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000477846] Chr9:72788392 [GRCh38]
Chr9:75403308 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 copy number loss See cases [RCV000511817] Chr9:71079379..75905808 [GRCh37]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
NM_138691.3(TMC1):c.684C>T (p.Thr228=) single nucleotide variant not provided [RCV002529314]|not specified [RCV000603397] Chr9:72754827 [GRCh38]
Chr9:75369743 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.448G>A (p.Ala150Thr) single nucleotide variant not provided [RCV003327430]|not specified [RCV000606120] Chr9:72740204 [GRCh38]
Chr9:75355120 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_138691.3(TMC1):c.1567-4A>G single nucleotide variant not specified [RCV000614983] Chr9:72805378 [GRCh38]
Chr9:75420294 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1071C>T (p.Asn357=) single nucleotide variant not specified [RCV000609806] Chr9:72789164 [GRCh38]
Chr9:75404080 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1265C>A (p.Thr422Lys) single nucleotide variant not specified [RCV000609883] Chr9:72791926 [GRCh38]
Chr9:75406842 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.637C>T (p.Pro213Ser) single nucleotide variant not specified [RCV000615974] Chr9:72751951 [GRCh38]
Chr9:75366867 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.135C>A (p.Thr45=) single nucleotide variant not provided [RCV001698410] Chr9:72694613 [GRCh38]
Chr9:75309529 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1030-3C>T single nucleotide variant not specified [RCV000609097] Chr9:72789120 [GRCh38]
Chr9:75404036 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2178G>A (p.Ala726=) single nucleotide variant not provided [RCV003767445]|not specified [RCV000614860] Chr9:72830499 [GRCh38]
Chr9:75445415 [GRCh37]
Chr9:9q21.13		 likely benign
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
NM_138691.3(TMC1):c.236+1G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000626300]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000770875]|Ear malformation [RCV001814196]|Rare genetic deafness [RCV000608719]|not provided [RCV002282262] Chr9:72694715 [GRCh38]
Chr9:75309631 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9q21.13(chr9:75425828-75464591)x1 copy number loss See cases [RCV000512483] Chr9:75425828..75464591 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_138691.3(TMC1):c.1434T>C (p.Asn478=) single nucleotide variant not provided [RCV003690574] Chr9:72792220 [GRCh38]
Chr9:75407136 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1534C>T (p.Arg512Ter) single nucleotide variant not provided [RCV000657658] Chr9:72792320 [GRCh38]
Chr9:75407236 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.373A>C (p.Lys125Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001168319]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001168318]|not provided [RCV000658001] Chr9:72740129 [GRCh38]
Chr9:75355045 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1449A>C (p.Glu483Asp) single nucleotide variant not provided [RCV000658002] Chr9:72792235 [GRCh38]
Chr9:75407151 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1220dup (p.Asn407fs) duplication Autosomal recessive nonsyndromic hearing loss 7 [RCV000681545] Chr9:72789306..72789307 [GRCh38]
Chr9:75404222..75404223 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000681552]|Hearing loss, autosomal recessive [RCV001291361]|not provided [RCV003736885] Chr9:72789236 [GRCh38]
Chr9:75404152 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.1224+2T>C single nucleotide variant Deafness [RCV000679841]|Hearing loss, autosomal recessive [RCV001291363]|not provided [RCV003736884] Chr9:72789319 [GRCh38]
Chr9:75404235 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter) single nucleotide variant Deafness [RCV000679842]|Hearing loss, autosomal recessive [RCV001291362] Chr9:72789302 [GRCh38]
Chr9:75404218 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1 copy number loss not provided [RCV000683165] Chr9:74534790..84014155 [GRCh37]
Chr9:9q21.13-21.31		 pathogenic
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys) single nucleotide variant Deafness [RCV000679843]|Hearing loss, autosomal recessive [RCV001291368] Chr9:72816175 [GRCh38]
Chr9:75431091 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter) single nucleotide variant Deafness [RCV000679844]|Hearing loss, autosomal recessive [RCV001291359] Chr9:72788399 [GRCh38]
Chr9:75403315 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
NM_138691.3(TMC1):c.-195-11del deletion not provided [RCV001732520] Chr9:72627899 [GRCh38]
Chr9:75242815 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.741+212_741+217del deletion not provided [RCV001530631] Chr9:72755093..72755098 [GRCh38]
Chr9:75370009..75370014 [GRCh37]
Chr9:9q21.13		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_138691.3(TMC1):c.2130-234C>A single nucleotide variant not provided [RCV001583094] Chr9:72830217 [GRCh38]
Chr9:75445133 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.362+119AC[10] microsatellite not provided [RCV001689564] Chr9:72700761..72700762 [GRCh38]
Chr9:75315677..75315678 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1404+49C>G single nucleotide variant not provided [RCV001545119] Chr9:72792114 [GRCh38]
Chr9:75407030 [GRCh37]
Chr9:9q21.13		 likely benign
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_138691.3(TMC1):c.1763+123G>A single nucleotide variant not provided [RCV001667734] Chr9:72816333 [GRCh38]
Chr9:75431249 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1695+37A>T single nucleotide variant not provided [RCV001567256] Chr9:72805547 [GRCh38]
Chr9:75420463 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.332G>A (p.Trp111Ter) single nucleotide variant not provided [RCV001567973] Chr9:72700613 [GRCh38]
Chr9:75315529 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.885-2A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000760982] Chr9:72788337 [GRCh38]
Chr9:75403253 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000761610]|Hearing loss, autosomal recessive [RCV001291364] Chr9:72791920 [GRCh38]
Chr9:75406836 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.582G>A (p.Trp194Ter) single nucleotide variant not provided [RCV000760453] Chr9:72751896 [GRCh38]
Chr9:75366812 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.1224+240del deletion not provided [RCV001564619] Chr9:72789552 [GRCh38]
Chr9:75404468 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2261-13G>T single nucleotide variant not provided [RCV001693677] Chr9:72835938 [GRCh38]
Chr9:75450854 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.16+207G>T single nucleotide variant not provided [RCV001580952] Chr9:72648871 [GRCh38]
Chr9:75263787 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.741+155AG[6] microsatellite not provided [RCV001551505] Chr9:72755039..72755042 [GRCh38]
Chr9:75369955..75369958 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1417A>C (p.Lys473Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166639]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166640] Chr9:72792203 [GRCh38]
Chr9:75407119 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.362+71AT[12] microsatellite not provided [RCV001581842] Chr9:72700714..72700719 [GRCh38]
Chr9:75315630..75315635 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1695+289A>G single nucleotide variant not provided [RCV001669202] Chr9:72805799 [GRCh38]
Chr9:75420715 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000785601]|Hearing loss, autosomal recessive [RCV001291358] Chr9:72751910 [GRCh38]
Chr9:75366826 [GRCh37]
Chr9:9q21.13		 likely pathogenic|uncertain significance
NM_138691.3(TMC1):c.532G>A (p.Glu178Lys) single nucleotide variant not specified [RCV000825470] Chr9:72742522 [GRCh38]
Chr9:75357438 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.543T>G (p.Phe181Leu) single nucleotide variant TMC1-related condition [RCV003413665]|not specified [RCV000825471] Chr9:72751857 [GRCh38]
Chr9:75366773 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.822G>A (p.Pro274=) single nucleotide variant not provided [RCV001558837]|not specified [RCV000825839] Chr9:72772493 [GRCh38]
Chr9:75387409 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_138691.3(TMC1):c.342G>A (p.Glu114=) single nucleotide variant not provided [RCV003768560]|not specified [RCV000825842] Chr9:72700623 [GRCh38]
Chr9:75315539 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2218G>T (p.Glu740Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000770876] Chr9:72830640 [GRCh38]
Chr9:75445556 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.592del (p.Val198fs) deletion TMC1-Related Disorders [RCV000778888] Chr9:72751906 [GRCh38]
Chr9:75366822 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2261-8G>T single nucleotide variant not provided [RCV000954949] Chr9:72835943 [GRCh38]
Chr9:75450859 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.921T>C (p.Asp307=) single nucleotide variant not provided [RCV000919712] Chr9:72788375 [GRCh38]
Chr9:75403291 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2004-46C>T single nucleotide variant not provided [RCV000836012] Chr9:72826823 [GRCh38]
Chr9:75441739 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.2129+15T>A single nucleotide variant not provided [RCV002067424]|not specified [RCV000825840] Chr9:72827009 [GRCh38]
Chr9:75441925 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_138691.3(TMC1):c.696C>T (p.Ala232=) single nucleotide variant not provided [RCV000993334] Chr9:72754839 [GRCh38]
Chr9:75369755 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_138691.3(TMC1):c.741+1G>A single nucleotide variant Rare genetic deafness [RCV000825547]|not provided [RCV003558604] Chr9:72754885 [GRCh38]
Chr9:75369801 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.951C>G (p.Val317=) single nucleotide variant not specified [RCV000825841] Chr9:72788405 [GRCh38]
Chr9:75403321 [GRCh37]
Chr9:9q21.13		 likely benign
NC_000009.12:g.(?_72648590)_(72648670_?)del deletion Rare genetic deafness [RCV000825575] Chr9:75263506..75263586 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.16+94T>G single nucleotide variant not provided [RCV000843214] Chr9:72648758 [GRCh38]
Chr9:75263674 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1594G>A (p.Val532Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001168380]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166641] Chr9:72805409 [GRCh38]
Chr9:75420325 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.*26G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166713]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166712] Chr9:72835999 [GRCh38]
Chr9:75450915 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166207]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166208]|not provided [RCV001859076] Chr9:72830667 [GRCh38]
Chr9:75445583 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.237-254dup duplication not provided [RCV001582047] Chr9:72700251..72700252 [GRCh38]
Chr9:75315167..75315168 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2276G>A (p.Arg759His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166210]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166709] Chr9:72835966 [GRCh38]
Chr9:75450882 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.-481T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001167611]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001167612] Chr9:72521860 [GRCh38]
Chr9:75136776 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q21.13(chr9:75274024-75318551)x1 copy number loss not provided [RCV000846786] Chr9:75274024..75318551 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.984T>C (p.Pro328=) single nucleotide variant not provided [RCV000976029] Chr9:72788438 [GRCh38]
Chr9:75403354 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001168382]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001168381]|not provided [RCV000999171]|not specified [RCV001195529] Chr9:72816155 [GRCh38]
Chr9:75431071 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001197257] Chr9:72789294 [GRCh38]
Chr9:75404210 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV000988186] Chr9:72830484 [GRCh38]
Chr9:75445400 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1874G>C (p.Arg625Thr) single nucleotide variant not specified [RCV001195531] Chr9:72820952 [GRCh38]
Chr9:75435868 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2201T>C (p.Met734Thr) single nucleotide variant Inborn genetic diseases [RCV003239765] Chr9:72830522 [GRCh38]
Chr9:75445438 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.741+140GAAA[3] microsatellite not provided [RCV001576622] Chr9:72755024..72755027 [GRCh38]
Chr9:75369940..75369943 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.884+1G>A single nucleotide variant not provided [RCV001581670] Chr9:72772556 [GRCh38]
Chr9:75387472 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.237-173A>G single nucleotide variant not provided [RCV001545546] Chr9:72700345 [GRCh38]
Chr9:75315261 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1696-11_1696-10del microsatellite not provided [RCV001546248] Chr9:72816129..72816130 [GRCh38]
Chr9:75431045..75431046 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.16+196T>C single nucleotide variant not provided [RCV001551332] Chr9:72648860 [GRCh38]
Chr9:75263776 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1696C>G (p.Pro566Ala) single nucleotide variant not provided [RCV001551648] Chr9:72816143 [GRCh38]
Chr9:75431059 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.2260+46C>T single nucleotide variant not provided [RCV001551824] Chr9:72830728 [GRCh38]
Chr9:75445644 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1696-85C>G single nucleotide variant not provided [RCV001568168] Chr9:72816058 [GRCh38]
Chr9:75430974 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.237-254del deletion not provided [RCV001560511] Chr9:72700252 [GRCh38]
Chr9:75315168 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.884+318A>G single nucleotide variant not provided [RCV001598282] Chr9:72772873 [GRCh38]
Chr9:75387789 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.362+71AT[13] microsatellite not provided [RCV001637716] Chr9:72700714..72700717 [GRCh38]
Chr9:75315630..75315633 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.362+100T>C single nucleotide variant not provided [RCV001615530] Chr9:72700743 [GRCh38]
Chr9:75315659 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.363-26C>A single nucleotide variant not provided [RCV001568696] Chr9:72740093 [GRCh38]
Chr9:75355009 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1763+198T>C single nucleotide variant not provided [RCV001598500] Chr9:72816408 [GRCh38]
Chr9:75431324 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1696-297T>C single nucleotide variant not provided [RCV001568969] Chr9:72815846 [GRCh38]
Chr9:75430762 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.237-236dup duplication not provided [RCV001555895] Chr9:72700275..72700276 [GRCh38]
Chr9:75315191..75315192 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2261-53TC[8] microsatellite not provided [RCV001556062] Chr9:72835897..72835898 [GRCh38]
Chr9:75450813..75450814 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.535+103AAAC[3] microsatellite not provided [RCV001659249] Chr9:72742628..72742635 [GRCh38]
Chr9:75357544..75357551 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.535+201A>G single nucleotide variant not provided [RCV001687202] Chr9:72742726 [GRCh38]
Chr9:75357642 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.2261-15C>T single nucleotide variant not provided [RCV001672271] Chr9:72835936 [GRCh38]
Chr9:75450852 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.362+99_362+100insCA insertion not provided [RCV001589859] Chr9:72700741..72700742 [GRCh38]
Chr9:75315657..75315658 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.535+219G>A single nucleotide variant not provided [RCV001639690] Chr9:72742744 [GRCh38]
Chr9:75357660 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.498G>A (p.Ala166=) single nucleotide variant not provided [RCV001586853] Chr9:72742488 [GRCh38]
Chr9:75357404 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.453+277A>C single nucleotide variant not provided [RCV001594106] Chr9:72740486 [GRCh38]
Chr9:75355402 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.453+189G>A single nucleotide variant not provided [RCV001592490] Chr9:72740398 [GRCh38]
Chr9:75355314 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.535+101A>G single nucleotide variant not provided [RCV001609629] Chr9:72742626 [GRCh38]
Chr9:75357542 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1566+306G>A single nucleotide variant not provided [RCV001552362] Chr9:72792658 [GRCh38]
Chr9:75407574 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.362+124C>T single nucleotide variant not provided [RCV001590649] Chr9:72700767 [GRCh38]
Chr9:75315683 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.454-30C>T single nucleotide variant not provided [RCV001592763] Chr9:72742414 [GRCh38]
Chr9:75357330 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1734C>T (p.Leu578=) single nucleotide variant not provided [RCV000925026] Chr9:72816181 [GRCh38]
Chr9:75431097 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1356C>G (p.Gly452=) single nucleotide variant not provided [RCV000925556] Chr9:72792017 [GRCh38]
Chr9:75406933 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1029+3A>G single nucleotide variant not provided [RCV000993330] Chr9:72788486 [GRCh38]
Chr9:75403402 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.708G>A (p.Ser236=) single nucleotide variant not provided [RCV000933999] Chr9:72754851 [GRCh38]
Chr9:75369767 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1800C>T (p.Ile600=) single nucleotide variant not provided [RCV002681122] Chr9:72820878 [GRCh38]
Chr9:75435794 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2129+33C>T single nucleotide variant not provided [RCV001545960] Chr9:72827027 [GRCh38]
Chr9:75441943 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2260+306C>A single nucleotide variant not provided [RCV001597844] Chr9:72830988 [GRCh38]
Chr9:75445904 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.2129+197A>G single nucleotide variant not provided [RCV001548422] Chr9:72827191 [GRCh38]
Chr9:75442107 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1764-5T>C single nucleotide variant TMC1-related condition [RCV003956248]|not provided [RCV001557860] Chr9:72820837 [GRCh38]
Chr9:75435753 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.363-28A>G single nucleotide variant not provided [RCV001558230] Chr9:72740091 [GRCh38]
Chr9:75355007 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1030-275T>A single nucleotide variant not provided [RCV001559667] Chr9:72788848 [GRCh38]
Chr9:75403764 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2130-279T>G single nucleotide variant not provided [RCV001593947] Chr9:72830172 [GRCh38]
Chr9:75445088 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2261-212A>G single nucleotide variant not provided [RCV001576281] Chr9:72835739 [GRCh38]
Chr9:75450655 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1629C>T (p.Asp543=) single nucleotide variant not provided [RCV001569029] Chr9:72805444 [GRCh38]
Chr9:75420360 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.379G>A (p.Val127Met) single nucleotide variant not provided [RCV002467069] Chr9:72740135 [GRCh38]
Chr9:75355051 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.362+71AT[11] microsatellite not provided [RCV001608280] Chr9:72700714..72700721 [GRCh38]
Chr9:75315630..75315637 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.236+216T>C single nucleotide variant not provided [RCV001687945] Chr9:72694930 [GRCh38]
Chr9:75309846 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1225-190C>G single nucleotide variant not provided [RCV001594061] Chr9:72791696 [GRCh38]
Chr9:75406612 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.*262dup duplication not provided [RCV001694340] Chr9:72836220..72836221 [GRCh38]
Chr9:75451136..75451137 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.362+119AC[11] microsatellite not provided [RCV001655476] Chr9:72700761..72700762 [GRCh38]
Chr9:75315677..75315678 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.741+167A>G single nucleotide variant not provided [RCV001590274] Chr9:72755051 [GRCh38]
Chr9:75369967 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1225-276A>G single nucleotide variant not provided [RCV001657674] Chr9:72791610 [GRCh38]
Chr9:75406526 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.362+101AC[9] microsatellite not provided [RCV001572609] Chr9:72700743..72700744 [GRCh38]
Chr9:75315659..75315660 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1301A>C (p.His434Pro) single nucleotide variant not provided [RCV001594029] Chr9:72791962 [GRCh38]
Chr9:75406878 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.362+101AC[10] microsatellite not provided [RCV001599151] Chr9:72700743..72700744 [GRCh38]
Chr9:75315659..75315660 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.-442T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001168246]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001168247] Chr9:72521899 [GRCh38]
Chr9:75136815 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.530T>C (p.Ile177Thr) single nucleotide variant Bilateral sensorineural hearing impairment [RCV001027644] Chr9:72742520 [GRCh38]
Chr9:75357436 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1404+50C>T single nucleotide variant not provided [RCV001707074] Chr9:72792115 [GRCh38]
Chr9:75407031 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166209]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001253923]|not provided [RCV002514317] Chr9:72835965 [GRCh38]
Chr9:75450881 [GRCh37]
Chr9:74640701 [NCBI36]
Chr9:9q21.13		 likely benign|uncertain significance|not provided
GRCh38/hg38 9q21.13(chr9:72430984-72661712)x1 copy number loss See cases [RCV000139778] Chr9:72430984..72661712 [GRCh38]
Chr9:75045900..75276628 [GRCh37]
Chr9:74235720..74466448 [NCBI36]
Chr9:9q21.13		 likely benign
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
NM_138691.3(TMC1):c.1189G>A (p.Asp397Asn) single nucleotide variant not provided [RCV003320607]|not specified [RCV000220142] Chr9:72789282 [GRCh38]
Chr9:75404198 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2260+3_2260+5del deletion TMC1-related condition [RCV003891793]|not provided [RCV000893705]|not specified [RCV000214549] Chr9:72830685..72830687 [GRCh38]
Chr9:75445601..75445603 [GRCh37]
Chr9:9q21.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138691.3(TMC1):c.-252C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV000329843]|Autosomal recessive nonsyndromic hearing loss 7 [RCV000386647] Chr9:72616421 [GRCh38]
Chr9:75231337 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.976G>A (p.Gly326Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166151]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166150] Chr9:72788430 [GRCh38]
Chr9:75403346 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2134G>T (p.Ala712Ser) single nucleotide variant Inborn genetic diseases [RCV003242852] Chr9:72830455 [GRCh38]
Chr9:75445371 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2011A>G (p.Asn671Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001169133]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001169134] Chr9:72826876 [GRCh38]
Chr9:75441792 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1566+59C>A single nucleotide variant not provided [RCV001541439] Chr9:72792411 [GRCh38]
Chr9:75407327 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.643-169A>T single nucleotide variant not provided [RCV001691593] Chr9:72754617 [GRCh38]
Chr9:75369533 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.237-44G>A single nucleotide variant not provided [RCV001590305] Chr9:72700474 [GRCh38]
Chr9:75315390 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.363-107G>A single nucleotide variant not provided [RCV001585363] Chr9:72740012 [GRCh38]
Chr9:75354928 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.741+187_741+188del deletion not provided [RCV001616954] Chr9:72755070..72755071 [GRCh38]
Chr9:75369986..75369987 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.362+71AT[14] microsatellite not provided [RCV001615427] Chr9:72700714..72700715 [GRCh38]
Chr9:75315630..75315631 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1695+102T>G single nucleotide variant not provided [RCV001680692] Chr9:72805612 [GRCh38]
Chr9:75420528 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.362+84_362+123del deletion not provided [RCV001678834] Chr9:72700726..72700765 [GRCh38]
Chr9:75315642..75315681 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.742-125T>A single nucleotide variant not provided [RCV001590268] Chr9:72772288 [GRCh38]
Chr9:75387204 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1695+36del deletion not provided [RCV001641332] Chr9:72805533 [GRCh38]
Chr9:75420449 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.65-316G>A single nucleotide variant not provided [RCV001694585] Chr9:72694227 [GRCh38]
Chr9:75309143 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1695+36dup duplication not provided [RCV001684728] Chr9:72805532..72805533 [GRCh38]
Chr9:75420448..75420449 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.-14_-7dup duplication not provided [RCV001547526] Chr9:72648633..72648634 [GRCh38]
Chr9:75263549..75263550 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.741+188GA[14] microsatellite not provided [RCV001644147] Chr9:72755071..72755072 [GRCh38]
Chr9:75369987..75369988 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1567-67T>A single nucleotide variant not provided [RCV001695080] Chr9:72805315 [GRCh38]
Chr9:75420231 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.627C>T (p.Leu209=) single nucleotide variant not provided [RCV001588386] Chr9:72751941 [GRCh38]
Chr9:75366857 [GRCh37]
Chr9:9q21.13		 likely benign|conflicting interpretations of pathogenicity
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166568]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166567]|not provided [RCV001358325]|not specified [RCV001195528] Chr9:72688738 [GRCh38]
Chr9:75303654 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1798A>G (p.Ile600Val) single nucleotide variant not specified [RCV001195532] Chr9:72820876 [GRCh38]
Chr9:75435792 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.-275G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001168992]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001168993] Chr9:72616398 [GRCh38]
Chr9:75231314 [GRCh37]
Chr9:9q21.13		 benign|uncertain significance
NM_138691.3(TMC1):c.*302A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001169176]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001169175] Chr9:72836275 [GRCh38]
Chr9:75451191 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) single nucleotide variant not provided [RCV001567833]|not specified [RCV001195466] Chr9:72788390 [GRCh38]
Chr9:75403306 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.1846G>A (p.Val616Ile) single nucleotide variant not provided [RCV002267080]|not specified [RCV001195530] Chr9:72820924 [GRCh38]
Chr9:75435840 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.-385G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001168249]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001168248] Chr9:72577944 [GRCh38]
Chr9:75192860 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.-295A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001168991]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001168990] Chr9:72616378 [GRCh38]
Chr9:75231294 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.*10T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001166710]|Autosomal recessive nonsyndromic hearing loss 7 [RCV001166711] Chr9:72835983 [GRCh38]
Chr9:75450899 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.462A>G (p.Ala154=) single nucleotide variant not provided [RCV001545416] Chr9:72742452 [GRCh38]
Chr9:75357368 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1975C>A (p.Pro659Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001808028] Chr9:72821053 [GRCh38]
Chr9:75435969 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.545G>T (p.Gly182Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001808043] Chr9:72751859 [GRCh38]
Chr9:75366775 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9q21.13(chr9:74173350-75170163)x1 copy number loss not provided [RCV001258438] Chr9:74173350..75170163 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1626G>A (p.Gly542=) single nucleotide variant not provided [RCV001288078] Chr9:72805441 [GRCh38]
Chr9:75420357 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2002A>G (p.Ser668Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001328470] Chr9:72821080 [GRCh38]
Chr9:75435996 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.741+155AG[7] microsatellite not provided [RCV001539227] Chr9:72755039..72755040 [GRCh38]
Chr9:75369955..75369956 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1A>G (p.Met1Val) single nucleotide variant Deafness, autosomal dominant 36 [RCV001336936] Chr9:72648649 [GRCh38]
Chr9:75263565 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.2192A>G (p.Lys731Arg) single nucleotide variant not specified [RCV001449775] Chr9:72830513 [GRCh38]
Chr9:75445429 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1660A>T (p.Asn554Tyr) single nucleotide variant Hearing impairment [RCV001375194] Chr9:72805475 [GRCh38]
Chr9:75420391 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg) single nucleotide variant Hearing loss, autosomal recessive [RCV001291479] Chr9:72820866 [GRCh38]
Chr9:75435782 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.2254C>T (p.Arg752Ter) single nucleotide variant not provided [RCV001355215] Chr9:72830676 [GRCh38]
Chr9:75445592 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1695+317C>T single nucleotide variant not provided [RCV001533912] Chr9:72805827 [GRCh38]
Chr9:75420743 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.741+188GA[11] microsatellite not provided [RCV001643389] Chr9:72755072..72755075 [GRCh38]
Chr9:75369988..75369991 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1764-319G>A single nucleotide variant not provided [RCV001671354] Chr9:72820523 [GRCh38]
Chr9:75435439 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1029+260G>T single nucleotide variant not provided [RCV001588594] Chr9:72788743 [GRCh38]
Chr9:75403659 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.535+74G>A single nucleotide variant not provided [RCV001618036] Chr9:72742599 [GRCh38]
Chr9:75357515 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.362+101_362+102insTACA insertion not provided [RCV001674442] Chr9:72700743..72700744 [GRCh38]
Chr9:75315659..75315660 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.741+188GA[10] microsatellite not provided [RCV001653357] Chr9:72755072..72755077 [GRCh38]
Chr9:75369988..75369993 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.16+190C>T single nucleotide variant not provided [RCV001665041] Chr9:72648854 [GRCh38]
Chr9:75263770 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1764-168T>C single nucleotide variant not provided [RCV001708330] Chr9:72820674 [GRCh38]
Chr9:75435590 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1029+85T>C single nucleotide variant not provided [RCV001710957] Chr9:72788568 [GRCh38]
Chr9:75403484 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.362+71AT[16] microsatellite not provided [RCV001715942] Chr9:72700713..72700714 [GRCh38]
Chr9:75315629..75315630 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.741+188GA[12] microsatellite not provided [RCV001649616] Chr9:72755072..72755073 [GRCh38]
Chr9:75369988..75369989 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.2208+49C>T single nucleotide variant not provided [RCV001696512] Chr9:72830578 [GRCh38]
Chr9:75445494 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.1566+169G>C single nucleotide variant not provided [RCV001666112] Chr9:72792521 [GRCh38]
Chr9:75407437 [GRCh37]
Chr9:9q21.13		 benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_138691.3(TMC1):c.1941C>T (p.Ser647=) single nucleotide variant not provided [RCV001727474] Chr9:72821019 [GRCh38]
Chr9:75435935 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.236C>A (p.Ala79Glu) single nucleotide variant not provided [RCV002248272] Chr9:72694714 [GRCh38]
Chr9:75309630 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.916G>A (p.Gly306Arg) single nucleotide variant not provided [RCV001770726] Chr9:72788370 [GRCh38]
Chr9:75403286 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.236+1G>T single nucleotide variant not provided [RCV001785066] Chr9:72694715 [GRCh38]
Chr9:75309631 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.688C>T (p.Pro230Ser) single nucleotide variant not provided [RCV001772973] Chr9:72754831 [GRCh38]
Chr9:75369747 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.59G>C (p.Ser20Thr) single nucleotide variant Inborn genetic diseases [RCV002544212]|not provided [RCV001776583] Chr9:72688751 [GRCh38]
Chr9:75303667 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV001795623]|Hearing impairment [RCV001849573]|not provided [RCV002541291] Chr9:72791995 [GRCh38]
Chr9:75406911 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic|uncertain significance
NM_138691.3(TMC1):c.1471A>T (p.Asn491Tyr) single nucleotide variant not provided [RCV001772427] Chr9:72792257 [GRCh38]
Chr9:75407173 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.656T>C (p.Leu219Ser) single nucleotide variant not provided [RCV001774085] Chr9:72754799 [GRCh38]
Chr9:75369715 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1769G>T (p.Gly590Val) single nucleotide variant not provided [RCV001767075] Chr9:72820847 [GRCh38]
Chr9:75435763 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1799T>G (p.Ile600Ser) single nucleotide variant not provided [RCV001774445] Chr9:72820877 [GRCh38]
Chr9:75435793 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1588T>C (p.Ser530Pro) single nucleotide variant not provided [RCV001765937] Chr9:72805403 [GRCh38]
Chr9:75420319 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.928A>G (p.Thr310Ala) single nucleotide variant not provided [RCV001767608] Chr9:72788382 [GRCh38]
Chr9:75403298 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV003225749]|not provided [RCV001756750] Chr9:72791973 [GRCh38]
Chr9:75406889 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.-305-67G>A single nucleotide variant not provided [RCV001776667] Chr9:72616301 [GRCh38]
Chr9:75231217 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.791G>A (p.Arg264Gln) single nucleotide variant not provided [RCV001757159] Chr9:72772462 [GRCh38]
Chr9:75387378 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp) single nucleotide variant not provided [RCV001757898] Chr9:72826892 [GRCh38]
Chr9:75441808 [GRCh37]
Chr9:9q21.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV003333172]|Inborn genetic diseases [RCV002540280]|not provided [RCV001770703] Chr9:72788422 [GRCh38]
Chr9:75403338 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1312G>T (p.Ala438Ser) single nucleotide variant not provided [RCV001756978] Chr9:72791973 [GRCh38]
Chr9:75406889 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1184del (p.Gln395fs) deletion Autosomal recessive nonsyndromic hearing loss 7 [RCV001809323] Chr9:72789277 [GRCh38]
Chr9:75404193 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1537G>A (p.Gly513Arg) single nucleotide variant not provided [RCV001733448] Chr9:72792323 [GRCh38]
Chr9:75407239 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1030-31TTTG[3] microsatellite not provided [RCV001794738] Chr9:72789092..72789095 [GRCh38]
Chr9:75404008..75404011 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.362+118_362+119del deletion not provided [RCV001797467] Chr9:72700760..72700761 [GRCh38]
Chr9:75315676..75315677 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1010C>A (p.Ser337Tyr) single nucleotide variant not provided [RCV001797549] Chr9:72788464 [GRCh38]
Chr9:75403380 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1688A>G (p.Tyr563Cys) single nucleotide variant not provided [RCV001758504] Chr9:72805503 [GRCh38]
Chr9:75420419 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.505C>G (p.Pro169Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001808026] Chr9:72742495 [GRCh38]
Chr9:75357411 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.564C>A (p.Tyr188Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001808902] Chr9:72751878 [GRCh38]
Chr9:75366794 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1763+1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001809324] Chr9:72816211 [GRCh38]
Chr9:75431127 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1551A>C (p.Glu517Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001822919] Chr9:72792337 [GRCh38]
Chr9:75407253 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001822920]|Nonsyndromic genetic hearing loss [RCV003120624] Chr9:72772468 [GRCh38]
Chr9:75387384 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.1765A>G (p.Met589Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001823219] Chr9:72820843 [GRCh38]
Chr9:75435759 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2004T>G (p.Ser668Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001823581] Chr9:72826869 [GRCh38]
Chr9:75441785 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.991G>A (p.Ala331Thr) single nucleotide variant not provided [RCV001874702] Chr9:72788445 [GRCh38]
Chr9:75403361 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1252A>T (p.Met418Leu) single nucleotide variant not provided [RCV001895923] Chr9:72791913 [GRCh38]
Chr9:75406829 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.64A>G (p.Ser22Gly) single nucleotide variant not provided [RCV001964898] Chr9:72688756 [GRCh38]
Chr9:75303672 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.642+4A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001823218] Chr9:72751960 [GRCh38]
Chr9:75366876 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_138691.3(TMC1):c.150del (p.Asn50fs) deletion Autosomal recessive nonsyndromic hearing loss 7 [RCV002051747] Chr9:72694628 [GRCh38]
Chr9:75309544 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV001822894] Chr9:72751910 [GRCh38]
Chr9:75366826 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1387G>A (p.Asp463Asn) single nucleotide variant not provided [RCV001947182] Chr9:72792048 [GRCh38]
Chr9:75406964 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1966G>A (p.Val656Met) single nucleotide variant not provided [RCV002005072] Chr9:72821044 [GRCh38]
Chr9:75435960 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1113C>A (p.Phe371Leu) single nucleotide variant not provided [RCV001966515] Chr9:72789206 [GRCh38]
Chr9:75404122 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2249C>A (p.Ala750Asp) single nucleotide variant not provided [RCV001980916] Chr9:72830671 [GRCh38]
Chr9:75445587 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.35A>G (p.Glu12Gly) single nucleotide variant not provided [RCV001887947] Chr9:72688727 [GRCh38]
Chr9:75303643 [GRCh37]
Chr9:9q21.13		 uncertain significance
NC_000009.11:g.(?_75231331)_(75387491_?)del deletion not provided [RCV001963240] Chr9:75231331..75387491 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1487A>G (p.Glu496Gly) single nucleotide variant not provided [RCV001954669] Chr9:72792273 [GRCh38]
Chr9:75407189 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.405G>T (p.Gly135=) single nucleotide variant not provided [RCV002012211] Chr9:72740161 [GRCh38]
Chr9:75355077 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_138691.3(TMC1):c.707C>T (p.Ser236Leu) single nucleotide variant not provided [RCV001902301] Chr9:72754850 [GRCh38]
Chr9:75369766 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2014A>G (p.Arg672Gly) single nucleotide variant not provided [RCV001940917] Chr9:72826879 [GRCh38]
Chr9:75441795 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1735G>A (p.Ala579Thr) single nucleotide variant not provided [RCV002012156] Chr9:72816182 [GRCh38]
Chr9:75431098 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2012dup (p.Asn671fs) duplication not provided [RCV001994676] Chr9:72826872..72826873 [GRCh38]
Chr9:75441788..75441789 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.64+19C>T single nucleotide variant not provided [RCV002210441] Chr9:72688775 [GRCh38]
Chr9:75303691 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1404+16G>A single nucleotide variant not provided [RCV002124792] Chr9:72792081 [GRCh38]
Chr9:75406997 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.742-12G>T single nucleotide variant not provided [RCV002128810] Chr9:72772401 [GRCh38]
Chr9:75387317 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1311C>T (p.Ile437=) single nucleotide variant not provided [RCV002146313] Chr9:72791972 [GRCh38]
Chr9:75406888 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2261-16T>C single nucleotide variant not provided [RCV002161654] Chr9:72835935 [GRCh38]
Chr9:75450851 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2208+20A>T single nucleotide variant not provided [RCV002158284] Chr9:72830549 [GRCh38]
Chr9:75445465 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1876G>A (p.Val626Ile) single nucleotide variant not provided [RCV003156474] Chr9:72820954 [GRCh38]
Chr9:75435870 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1111T>C (p.Phe371Leu) single nucleotide variant not provided [RCV002275793] Chr9:72789204 [GRCh38]
Chr9:75404120 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1506C>G (p.Pro502=) single nucleotide variant not provided [RCV002276203] Chr9:72792292 [GRCh38]
Chr9:75407208 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2002A>C (p.Ser668Arg) single nucleotide variant not provided [RCV002293866] Chr9:72821080 [GRCh38]
Chr9:75435996 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.453+2T>C single nucleotide variant not provided [RCV002267274] Chr9:72740211 [GRCh38]
Chr9:75355127 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.464A>C (p.Lys155Thr) single nucleotide variant not provided [RCV002292028] Chr9:72742454 [GRCh38]
Chr9:75357370 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1849A>T (p.Met617Leu) single nucleotide variant not provided [RCV002292088] Chr9:72820927 [GRCh38]
Chr9:75435843 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_138691.3(TMC1):c.885-11T>C single nucleotide variant not provided [RCV002260728] Chr9:72788328 [GRCh38]
Chr9:75403244 [GRCh37]
Chr9:9q21.13		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_138691.3(TMC1):c.453+5G>T single nucleotide variant not provided [RCV003154378] Chr9:72740214 [GRCh38]
Chr9:75355130 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1250G>A (p.Gly417Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV002444384] Chr9:72791911 [GRCh38]
Chr9:75406827 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1750C>T (p.Gln584Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV002444383]|not provided [RCV003660967] Chr9:72816197 [GRCh38]
Chr9:75431113 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.761T>C (p.Val254Ala) single nucleotide variant not provided [RCV002298108] Chr9:72772432 [GRCh38]
Chr9:75387348 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1358A>G (p.Asn453Ser) single nucleotide variant not provided [RCV002462632] Chr9:72792019 [GRCh38]
Chr9:75406935 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1951G>T (p.Val651Phe) single nucleotide variant Inborn genetic diseases [RCV002817771] Chr9:72821029 [GRCh38]
Chr9:75435945 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1256T>C (p.Phe419Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV002512497] Chr9:72791917 [GRCh38]
Chr9:75406833 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2231G>A (p.Arg744Gln) single nucleotide variant not provided [RCV002461660] Chr9:72830653 [GRCh38]
Chr9:75445569 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1444T>C (p.Trp482Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV002512498] Chr9:72792230 [GRCh38]
Chr9:75407146 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.193A>G (p.Lys65Glu) single nucleotide variant not provided [RCV002904415] Chr9:72694671 [GRCh38]
Chr9:75309587 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2209-7T>C single nucleotide variant not provided [RCV002863669] Chr9:72830624 [GRCh38]
Chr9:75445540 [GRCh37]
Chr9:9q21.13		 likely benign
GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3 copy number gain not provided [RCV002475692] Chr9:70966262..76901382 [GRCh37]
Chr9:9q21.11-21.13		 uncertain significance
NM_138691.3(TMC1):c.1252A>G (p.Met418Val) single nucleotide variant not provided [RCV002615716] Chr9:72791913 [GRCh38]
Chr9:75406829 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1389T>A (p.Asp463Glu) single nucleotide variant not provided [RCV002839055] Chr9:72792050 [GRCh38]
Chr9:75406966 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1535G>A (p.Arg512Gln) single nucleotide variant not provided [RCV002617275] Chr9:72792321 [GRCh38]
Chr9:75407237 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1375C>T (p.Leu459Phe) single nucleotide variant Inborn genetic diseases [RCV002687299] Chr9:72792036 [GRCh38]
Chr9:75406952 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1773C>T (p.Ser591=) single nucleotide variant not provided [RCV002975184] Chr9:72820851 [GRCh38]
Chr9:75435767 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.676A>G (p.Arg226Gly) single nucleotide variant not provided [RCV002462625] Chr9:72754819 [GRCh38]
Chr9:75369735 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.458G>A (p.Trp153Ter) single nucleotide variant not provided [RCV003037326] Chr9:72742448 [GRCh38]
Chr9:75357364 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.2209-10dup duplication not provided [RCV002593129] Chr9:72830615..72830616 [GRCh38]
Chr9:75445531..75445532 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.617C>T (p.Thr206Ile) single nucleotide variant not provided [RCV002949402] Chr9:72751931 [GRCh38]
Chr9:75366847 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.935A>G (p.Asn312Ser) single nucleotide variant not provided [RCV002695868] Chr9:72788389 [GRCh38]
Chr9:75403305 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2242A>G (p.Met748Val) single nucleotide variant Inborn genetic diseases [RCV002783055] Chr9:72830664 [GRCh38]
Chr9:75445580 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1762T>C (p.Trp588Arg) single nucleotide variant not provided [RCV002760838] Chr9:72816209 [GRCh38]
Chr9:75431125 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2030T>C (p.Ile677Thr) single nucleotide variant not provided [RCV003037327] Chr9:72826895 [GRCh38]
Chr9:75441811 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.2261-1G>A single nucleotide variant not provided [RCV002975793] Chr9:72835950 [GRCh38]
Chr9:75450866 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1405-17A>G single nucleotide variant not provided [RCV002927605] Chr9:72792174 [GRCh38]
Chr9:75407090 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1751A>G (p.Gln584Arg) single nucleotide variant not provided [RCV003019012] Chr9:72816198 [GRCh38]
Chr9:75431114 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.742-20G>A single nucleotide variant not provided [RCV002597156] Chr9:72772393 [GRCh38]
Chr9:75387309 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1295A>C (p.Asp432Ala) single nucleotide variant Inborn genetic diseases [RCV002874747] Chr9:72791956 [GRCh38]
Chr9:75406872 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1696-14T>C single nucleotide variant not provided [RCV002575543] Chr9:72816129 [GRCh38]
Chr9:75431045 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.628A>G (p.Ile210Val) single nucleotide variant Inborn genetic diseases [RCV002850603] Chr9:72751942 [GRCh38]
Chr9:75366858 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.619T>A (p.Phe207Ile) single nucleotide variant Inborn genetic diseases [RCV002800754]|TMC1-related condition [RCV003409930]|not provided [RCV002800755] Chr9:72751933 [GRCh38]
Chr9:75366849 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1015A>C (p.Thr339Pro) single nucleotide variant Inborn genetic diseases [RCV002765069] Chr9:72788469 [GRCh38]
Chr9:75403385 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.885-17A>G single nucleotide variant not provided [RCV002572515] Chr9:72788322 [GRCh38]
Chr9:75403238 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1696-17C>T single nucleotide variant not provided [RCV002572910] Chr9:72816126 [GRCh38]
Chr9:75431042 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.846dup (p.Met283fs) duplication not provided [RCV002508900] Chr9:72772515..72772516 [GRCh38]
Chr9:75387431..75387432 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.2260+16A>G single nucleotide variant not provided [RCV002871899] Chr9:72830698 [GRCh38]
Chr9:75445614 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2260+5G>A single nucleotide variant not provided [RCV003088573] Chr9:72830687 [GRCh38]
Chr9:75445603 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.537T>G (p.Ser179Arg) single nucleotide variant not provided [RCV003047349] Chr9:72751851 [GRCh38]
Chr9:75366767 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.586T>A (p.Tyr196Asn) single nucleotide variant not provided [RCV003047350] Chr9:72751900 [GRCh38]
Chr9:75366816 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.382A>G (p.Ser128Gly) single nucleotide variant Inborn genetic diseases [RCV002677498] Chr9:72740138 [GRCh38]
Chr9:75355054 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1795G>A (p.Gly599Ser) single nucleotide variant Inborn genetic diseases [RCV002679113] Chr9:72820873 [GRCh38]
Chr9:75435789 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.884+15T>C single nucleotide variant not provided [RCV002583628] Chr9:72772570 [GRCh38]
Chr9:75387486 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.422G>A (p.Arg141Gln) single nucleotide variant Inborn genetic diseases [RCV003280148]|not provided [RCV003549041] Chr9:72740178 [GRCh38]
Chr9:75355094 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.64+2T>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV003223385]|not provided [RCV003561242] Chr9:72688758 [GRCh38]
Chr9:75303674 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_138691.3(TMC1):c.451A>C (p.Lys151Gln) single nucleotide variant Inborn genetic diseases [RCV003213637] Chr9:72740207 [GRCh38]
Chr9:75355123 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.587A>G (p.Tyr196Cys) single nucleotide variant not provided [RCV003319827] Chr9:72751901 [GRCh38]
Chr9:75366817 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.859T>C (p.Tyr287His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 7 [RCV003448778] Chr9:72772530 [GRCh38]
Chr9:75387446 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2130-4T>C single nucleotide variant not provided [RCV003327212] Chr9:72830447 [GRCh38]
Chr9:75445363 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.360del (p.Lys121fs) deletion not provided [RCV003569489] Chr9:72700641 [GRCh38]
Chr9:75315557 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.685G>A (p.Val229Ile) single nucleotide variant not provided [RCV003873207] Chr9:72754828 [GRCh38]
Chr9:75369744 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.286T>C (p.Leu96=) single nucleotide variant not provided [RCV003569399] Chr9:72700567 [GRCh38]
Chr9:75315483 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.884+12T>C single nucleotide variant not provided [RCV003571472] Chr9:72772567 [GRCh38]
Chr9:75387483 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2085G>A (p.Gln695=) single nucleotide variant not provided [RCV003570429] Chr9:72826950 [GRCh38]
Chr9:75441866 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2223C>T (p.Asn741=) single nucleotide variant not provided [RCV003881243] Chr9:72830645 [GRCh38]
Chr9:75445561 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2260+10A>C single nucleotide variant not provided [RCV003569690] Chr9:72830692 [GRCh38]
Chr9:75445608 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1494C>T (p.Ser498=) single nucleotide variant not provided [RCV003569707] Chr9:72792280 [GRCh38]
Chr9:75407196 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.873T>G (p.Val291=) single nucleotide variant not provided [RCV003570523] Chr9:72772544 [GRCh38]
Chr9:75387460 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.884+9C>T single nucleotide variant not provided [RCV003543519] Chr9:72772564 [GRCh38]
Chr9:75387480 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2004-18C>T single nucleotide variant not provided [RCV003543640] Chr9:72826851 [GRCh38]
Chr9:75441767 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1136G>A (p.Ser379Asn) single nucleotide variant not provided [RCV003571190] Chr9:72789229 [GRCh38]
Chr9:75404145 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1763+8A>G single nucleotide variant not provided [RCV003569091] Chr9:72816218 [GRCh38]
Chr9:75431134 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1404+10G>C single nucleotide variant not provided [RCV003569903] Chr9:72792075 [GRCh38]
Chr9:75406991 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.236C>T (p.Ala79Val) single nucleotide variant not provided [RCV003481916] Chr9:72694714 [GRCh38]
Chr9:75309630 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9q21.13(chr9:75265721-75994532)x3 copy number gain not provided [RCV003484776] Chr9:75265721..75994532 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9q21.13(chr9:75028573-75163613)x1 copy number loss not provided [RCV003483069] Chr9:75028573..75163613 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2237A>G (p.Lys746Arg) single nucleotide variant TMC1-related condition [RCV003427807] Chr9:72830659 [GRCh38]
Chr9:75445575 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1764G>A (p.Trp588Ter) single nucleotide variant not provided [RCV003480433] Chr9:72820842 [GRCh38]
Chr9:75435758 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1100T>G (p.Leu367Arg) single nucleotide variant not provided [RCV003481917] Chr9:72789193 [GRCh38]
Chr9:75404109 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2050G>C (p.Asp684His) single nucleotide variant TMC1-related condition [RCV003410686]|not provided [RCV003732582] Chr9:72826915 [GRCh38]
Chr9:75441831 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.742-1G>C single nucleotide variant TMC1-related condition [RCV003402295] Chr9:72772412 [GRCh38]
Chr9:75387328 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1599G>A (p.Leu533=) single nucleotide variant not provided [RCV003430103] Chr9:72805414 [GRCh38]
Chr9:75420330 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1696C>T (p.Pro566Ser) single nucleotide variant TMC1-related condition [RCV003406122] Chr9:72816143 [GRCh38]
Chr9:75431059 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1030-16G>T single nucleotide variant not provided [RCV003572170] Chr9:72789107 [GRCh38]
Chr9:75404023 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1029+14C>T single nucleotide variant not provided [RCV003882509] Chr9:72788497 [GRCh38]
Chr9:75403413 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2094C>T (p.Asn698=) single nucleotide variant not provided [RCV003660236] Chr9:72826959 [GRCh38]
Chr9:75441875 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1221T>C (p.Asn407=) single nucleotide variant not provided [RCV003544640] Chr9:72789314 [GRCh38]
Chr9:75404230 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2007C>G (p.Gly669=) single nucleotide variant not provided [RCV003691501] Chr9:72826872 [GRCh38]
Chr9:75441788 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.237-6T>C single nucleotide variant not provided [RCV003692494] Chr9:72700512 [GRCh38]
Chr9:75315428 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1764-15C>G single nucleotide variant not provided [RCV003576502] Chr9:72820827 [GRCh38]
Chr9:75435743 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.509G>A (p.Trp170Ter) single nucleotide variant not provided [RCV003739476] Chr9:72742499 [GRCh38]
Chr9:75357415 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.2265A>T (p.Ala755=) single nucleotide variant not provided [RCV003696314] Chr9:72835955 [GRCh38]
Chr9:75450871 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.504C>G (p.Val168=) single nucleotide variant not provided [RCV003696531] Chr9:72742494 [GRCh38]
Chr9:75357410 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.84G>A (p.Val28=) single nucleotide variant not provided [RCV003579385] Chr9:72694562 [GRCh38]
Chr9:75309478 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2058A>C (p.Pro686=) single nucleotide variant not provided [RCV003878841] Chr9:72826923 [GRCh38]
Chr9:75441839 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2049C>T (p.His683=) single nucleotide variant not provided [RCV003878183] Chr9:72826914 [GRCh38]
Chr9:75441830 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.454-13A>T single nucleotide variant not provided [RCV003687402] Chr9:72742431 [GRCh38]
Chr9:75357347 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1371T>C (p.Phe457=) single nucleotide variant not provided [RCV003881011] Chr9:72792032 [GRCh38]
Chr9:75406948 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1805T>G (p.Ile602Ser) single nucleotide variant not provided [RCV003547682] Chr9:72820883 [GRCh38]
Chr9:75435799 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1485T>G (p.Ser495=) single nucleotide variant not provided [RCV003826744] Chr9:72792271 [GRCh38]
Chr9:75407187 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.742-1G>A single nucleotide variant not provided [RCV003694991] Chr9:72772412 [GRCh38]
Chr9:75387328 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1764-15C>T single nucleotide variant not provided [RCV003691997] Chr9:72820827 [GRCh38]
Chr9:75435743 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2046G>A (p.Glu682=) single nucleotide variant not provided [RCV003826856] Chr9:72826911 [GRCh38]
Chr9:75441827 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1014C>T (p.Ile338=) single nucleotide variant not provided [RCV003882040] Chr9:72788468 [GRCh38]
Chr9:75403384 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.800G>T (p.Gly267Val) single nucleotide variant not provided [RCV003573117] Chr9:72772471 [GRCh38]
Chr9:75387387 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1757del (p.Met586fs) deletion not provided [RCV003574577] Chr9:72816204 [GRCh38]
Chr9:75431120 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.2196G>A (p.Lys732=) single nucleotide variant not provided [RCV003690280] Chr9:72830517 [GRCh38]
Chr9:75445433 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.147C>A (p.Ile49=) single nucleotide variant not provided [RCV003688390] Chr9:72694625 [GRCh38]
Chr9:75309541 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1633C>T (p.Leu545=) single nucleotide variant not provided [RCV003688396] Chr9:72805448 [GRCh38]
Chr9:75420364 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.732C>T (p.Tyr244=) single nucleotide variant not provided [RCV003830494] Chr9:72754875 [GRCh38]
Chr9:75369791 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1695+8T>C single nucleotide variant not provided [RCV003713285] Chr9:72805518 [GRCh38]
Chr9:75420434 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.5C>A (p.Ser2Ter) single nucleotide variant not provided [RCV003876511] Chr9:72648653 [GRCh38]
Chr9:75263569 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.362+1G>C single nucleotide variant not provided [RCV003547366] Chr9:72700644 [GRCh38]
Chr9:75315560 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1681T>C (p.Leu561=) single nucleotide variant not provided [RCV003882139] Chr9:72805496 [GRCh38]
Chr9:75420412 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2129+13C>T single nucleotide variant not provided [RCV003692860] Chr9:72827007 [GRCh38]
Chr9:75441923 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.362+18del deletion not provided [RCV003713439] Chr9:72700661 [GRCh38]
Chr9:75315577 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1041A>T (p.Thr347=) single nucleotide variant not provided [RCV003577930] Chr9:72789134 [GRCh38]
Chr9:75404050 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.64+9T>C single nucleotide variant not provided [RCV003714850] Chr9:72688765 [GRCh38]
Chr9:75303681 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2241A>G (p.Lys747=) single nucleotide variant not provided [RCV003574107] Chr9:72830663 [GRCh38]
Chr9:75445579 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1224+20T>C single nucleotide variant not provided [RCV003691544] Chr9:72789337 [GRCh38]
Chr9:75404253 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.16+1G>A single nucleotide variant not provided [RCV003577002] Chr9:72648665 [GRCh38]
Chr9:75263581 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.2208+9C>A single nucleotide variant not provided [RCV003831312] Chr9:72830538 [GRCh38]
Chr9:75445454 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1362A>G (p.Leu454=) single nucleotide variant TMC1-related condition [RCV003966469]|not provided [RCV003545790] Chr9:72792023 [GRCh38]
Chr9:75406939 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1566+14C>G single nucleotide variant not provided [RCV003573981] Chr9:72792366 [GRCh38]
Chr9:75407282 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2136C>T (p.Ala712=) single nucleotide variant not provided [RCV003690350] Chr9:72830457 [GRCh38]
Chr9:75445373 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.315T>C (p.Thr105=) single nucleotide variant not provided [RCV003829673] Chr9:72700596 [GRCh38]
Chr9:75315512 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2133G>A (p.Leu711=) single nucleotide variant not provided [RCV003831102] Chr9:72830454 [GRCh38]
Chr9:75445370 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.562_563dup (p.Phe189fs) duplication not provided [RCV003571992] Chr9:72751874..72751875 [GRCh38]
Chr9:75366790..75366791 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.94C>T (p.Leu32=) single nucleotide variant not provided [RCV003830829] Chr9:72694572 [GRCh38]
Chr9:75309488 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.742-20G>T single nucleotide variant not provided [RCV003879953] Chr9:72772393 [GRCh38]
Chr9:75387309 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.897C>T (p.Asn299=) single nucleotide variant not provided [RCV003544633] Chr9:72788351 [GRCh38]
Chr9:75403267 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.828C>T (p.Ser276=) single nucleotide variant not provided [RCV003713025] Chr9:72772499 [GRCh38]
Chr9:75387415 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.362+8_362+9del deletion not provided [RCV003695508] Chr9:72700651..72700652 [GRCh38]
Chr9:75315567..75315568 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.666C>T (p.Gly222=) single nucleotide variant not provided [RCV003714299] Chr9:72754809 [GRCh38]
Chr9:75369725 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1542T>C (p.Pro514=) single nucleotide variant not provided [RCV003694477] Chr9:72792328 [GRCh38]
Chr9:75407244 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.667_668insAACG (p.Ser223fs) insertion not provided [RCV003688143] Chr9:72754810..72754811 [GRCh38]
Chr9:75369726..75369727 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.510G>A (p.Trp170Ter) single nucleotide variant not provided [RCV003574418] Chr9:72742500 [GRCh38]
Chr9:75357416 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1365C>T (p.Tyr455=) single nucleotide variant not provided [RCV003827877] Chr9:72792026 [GRCh38]
Chr9:75406942 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.536-18T>C single nucleotide variant not provided [RCV003576861] Chr9:72751832 [GRCh38]
Chr9:75366748 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.932T>A (p.Phe311Tyr) single nucleotide variant not provided [RCV003876937] Chr9:72788386 [GRCh38]
Chr9:75403302 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1620C>T (p.Leu540=) single nucleotide variant not provided [RCV003661249] Chr9:72805435 [GRCh38]
Chr9:75420351 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2145T>G (p.Tyr715Ter) single nucleotide variant not provided [RCV003688297] Chr9:72830466 [GRCh38]
Chr9:75445382 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.741+18A>G single nucleotide variant not provided [RCV003829156] Chr9:72754902 [GRCh38]
Chr9:75369818 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.453+16G>A single nucleotide variant not provided [RCV003576928] Chr9:72740225 [GRCh38]
Chr9:75355141 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.17-16T>C single nucleotide variant not provided [RCV003715240] Chr9:72688693 [GRCh38]
Chr9:75303609 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.291T>C (p.Asp97=) single nucleotide variant not provided [RCV003663298] Chr9:72700572 [GRCh38]
Chr9:75315488 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1485T>A (p.Ser495=) single nucleotide variant not provided [RCV003578757] Chr9:72792271 [GRCh38]
Chr9:75407187 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.735C>T (p.Asp245=) single nucleotide variant not provided [RCV003546248] Chr9:72754878 [GRCh38]
Chr9:75369794 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2010A>G (p.Lys670=) single nucleotide variant not provided [RCV003831054] Chr9:72826875 [GRCh38]
Chr9:75441791 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1763+20G>A single nucleotide variant not provided [RCV003881508] Chr9:72816230 [GRCh38]
Chr9:75431146 [GRCh37]
Chr9:9q21.13		 benign
NM_138691.3(TMC1):c.2209-9_2209-8del deletion not provided [RCV003713577] Chr9:72830621..72830622 [GRCh38]
Chr9:75445537..75445538 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2139C>T (p.Ile713=) single nucleotide variant not provided [RCV003826776] Chr9:72830460 [GRCh38]
Chr9:75445376 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.643-13C>T single nucleotide variant not provided [RCV003692739] Chr9:72754773 [GRCh38]
Chr9:75369689 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1443T>G (p.Leu481=) single nucleotide variant not provided [RCV003574402] Chr9:72792229 [GRCh38]
Chr9:75407145 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1653G>A (p.Arg551=) single nucleotide variant not provided [RCV003716127] Chr9:72805468 [GRCh38]
Chr9:75420384 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.927C>T (p.Asn309=) single nucleotide variant not provided [RCV003688370] Chr9:72788381 [GRCh38]
Chr9:75403297 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1567-20T>C single nucleotide variant not provided [RCV003880542] Chr9:72805362 [GRCh38]
Chr9:75420278 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1845C>T (p.Ala615=) single nucleotide variant not provided [RCV003827821] Chr9:72820923 [GRCh38]
Chr9:75435839 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1182A>G (p.Ala394=) single nucleotide variant not provided [RCV003661151] Chr9:72789275 [GRCh38]
Chr9:75404191 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2208+19C>T single nucleotide variant not provided [RCV003547527] Chr9:72830548 [GRCh38]
Chr9:75445464 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.642+7T>A single nucleotide variant not provided [RCV003572099] Chr9:72751963 [GRCh38]
Chr9:75366879 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2130-14T>G single nucleotide variant not provided [RCV003580485] Chr9:72830437 [GRCh38]
Chr9:75445353 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2208+15A>G single nucleotide variant not provided [RCV003549930] Chr9:72830544 [GRCh38]
Chr9:75445460 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1305T>A (p.Pro435=) single nucleotide variant not provided [RCV003664248] Chr9:72791966 [GRCh38]
Chr9:75406882 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1780del (p.Ala594fs) deletion not provided [RCV003549997] Chr9:72820858 [GRCh38]
Chr9:75435774 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1566+19G>A single nucleotide variant not provided [RCV003699939] Chr9:72792371 [GRCh38]
Chr9:75407287 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.594C>A (p.Val198=) single nucleotide variant not provided [RCV003852529] Chr9:72751908 [GRCh38]
Chr9:75366824 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1029+7G>A single nucleotide variant not provided [RCV003851711] Chr9:72788490 [GRCh38]
Chr9:75403406 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.454-4T>G single nucleotide variant not provided [RCV003699178] Chr9:72742440 [GRCh38]
Chr9:75357356 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1030-98_1177del deletion not provided [RCV003557892] Chr9:72789023..72789268 [GRCh38]
Chr9:75403939..75404184 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1749C>T (p.Asn583=) single nucleotide variant not provided [RCV003549375] Chr9:72816196 [GRCh38]
Chr9:75431112 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2208+18T>C single nucleotide variant not provided [RCV003580021] Chr9:72830547 [GRCh38]
Chr9:75445463 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1911G>C (p.Leu637=) single nucleotide variant not provided [RCV003699467] Chr9:72820989 [GRCh38]
Chr9:75435905 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1500A>G (p.Gly500=) single nucleotide variant not provided [RCV003665079] Chr9:72792286 [GRCh38]
Chr9:75407202 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1567-1G>A single nucleotide variant not provided [RCV003549808] Chr9:72805381 [GRCh38]
Chr9:75420297 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.2003+17A>G single nucleotide variant not provided [RCV003856807] Chr9:72821098 [GRCh38]
Chr9:75436014 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1566+19G>T single nucleotide variant not provided [RCV003855411] Chr9:72792371 [GRCh38]
Chr9:75407287 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1566+11C>G single nucleotide variant not provided [RCV003851880] Chr9:72792363 [GRCh38]
Chr9:75407279 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.363-20T>C single nucleotide variant not provided [RCV003672146] Chr9:72740099 [GRCh38]
Chr9:75355015 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.64+12T>C single nucleotide variant not provided [RCV003665417] Chr9:72688768 [GRCh38]
Chr9:75303684 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.362+15T>C single nucleotide variant not provided [RCV003840277] Chr9:72700658 [GRCh38]
Chr9:75315574 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1566+7C>G single nucleotide variant not provided [RCV003856664] Chr9:72792359 [GRCh38]
Chr9:75407275 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.454-20G>T single nucleotide variant not provided [RCV003549638] Chr9:72742424 [GRCh38]
Chr9:75357340 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1707C>A (p.Thr569=) single nucleotide variant not provided [RCV003854724] Chr9:72816154 [GRCh38]
Chr9:75431070 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1122A>G (p.Leu374=) single nucleotide variant not provided [RCV003698383] Chr9:72789215 [GRCh38]
Chr9:75404131 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.16+20T>C single nucleotide variant not provided [RCV003701843] Chr9:72648684 [GRCh38]
Chr9:75263600 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.108G>A (p.Glu36=) single nucleotide variant not provided [RCV003561954] Chr9:72694586 [GRCh38]
Chr9:75309502 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1794A>G (p.Pro598=) single nucleotide variant not provided [RCV003560445] Chr9:72820872 [GRCh38]
Chr9:75435788 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1035T>A (p.Ala345=) single nucleotide variant not provided [RCV003703335] Chr9:72789128 [GRCh38]
Chr9:75404044 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.236+12C>T single nucleotide variant not provided [RCV003673859] Chr9:72694726 [GRCh38]
Chr9:75309642 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1567-8C>A single nucleotide variant not provided [RCV003852515] Chr9:72805374 [GRCh38]
Chr9:75420290 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1680C>T (p.Asp560=) single nucleotide variant not provided [RCV003856346] Chr9:72805495 [GRCh38]
Chr9:75420411 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1140A>C (p.Gly380=) single nucleotide variant not provided [RCV003674063] Chr9:72789233 [GRCh38]
Chr9:75404149 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2004-5C>T single nucleotide variant not provided [RCV003672339] Chr9:72826864 [GRCh38]
Chr9:75441780 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1329G>A (p.Leu443=) single nucleotide variant not provided [RCV003854626] Chr9:72791990 [GRCh38]
Chr9:75406906 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1030-10A>C single nucleotide variant not provided [RCV003674015] Chr9:72789113 [GRCh38]
Chr9:75404029 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.454-19T>C single nucleotide variant not provided [RCV003849649] Chr9:72742425 [GRCh38]
Chr9:75357341 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2148C>G (p.Leu716=) single nucleotide variant not provided [RCV003670034] Chr9:72830469 [GRCh38]
Chr9:75445385 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1764-12T>C single nucleotide variant not provided [RCV003668340] Chr9:72820830 [GRCh38]
Chr9:75435746 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.78G>A (p.Glu26=) single nucleotide variant not provided [RCV003560496] Chr9:72694556 [GRCh38]
Chr9:75309472 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2260+19T>A single nucleotide variant not provided [RCV003673240] Chr9:72830701 [GRCh38]
Chr9:75445617 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2260+12G>A single nucleotide variant not provided [RCV003816047] Chr9:72830694 [GRCh38]
Chr9:75445610 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.507A>G (p.Pro169=) single nucleotide variant not provided [RCV003839385] Chr9:72742497 [GRCh38]
Chr9:75357413 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.558C>T (p.Ala186=) single nucleotide variant not provided [RCV003667856] Chr9:72751872 [GRCh38]
Chr9:75366788 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1696-19A>T single nucleotide variant not provided [RCV003672925] Chr9:72816124 [GRCh38]
Chr9:75431040 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.903_904dup (p.Asp302fs) duplication not provided [RCV003669718] Chr9:72788355..72788356 [GRCh38]
Chr9:75403271..75403272 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1053A>C (p.Ala351=) single nucleotide variant not provided [RCV003669618] Chr9:72789146 [GRCh38]
Chr9:75404062 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.702G>A (p.Glu234=) single nucleotide variant not provided [RCV003725419] Chr9:72754845 [GRCh38]
Chr9:75369761 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.16+23_16+26del microsatellite not provided [RCV003549912] Chr9:72648683..72648686 [GRCh38]
Chr9:75263599..75263602 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2004-12T>A single nucleotide variant not provided [RCV003838253] Chr9:72826857 [GRCh38]
Chr9:75441773 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.884+19T>G single nucleotide variant not provided [RCV003560620] Chr9:72772574 [GRCh38]
Chr9:75387490 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1567-12del deletion not provided [RCV003837938] Chr9:72805369 [GRCh38]
Chr9:75420285 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.684C>A (p.Thr228=) single nucleotide variant not provided [RCV003816243] Chr9:72754827 [GRCh38]
Chr9:75369743 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.236+12C>G single nucleotide variant not provided [RCV003669761] Chr9:72694726 [GRCh38]
Chr9:75309642 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1968G>A (p.Val656=) single nucleotide variant not provided [RCV003673695] Chr9:72821046 [GRCh38]
Chr9:75435962 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1224+13A>G single nucleotide variant not provided [RCV003854742] Chr9:72789330 [GRCh38]
Chr9:75404246 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1764-13G>T single nucleotide variant not provided [RCV003851741] Chr9:72820829 [GRCh38]
Chr9:75435745 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1380A>T (p.Ala460=) single nucleotide variant not provided [RCV003700155] Chr9:72792041 [GRCh38]
Chr9:75406957 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.345G>C (p.Lys115Asn) single nucleotide variant not provided [RCV003698275] Chr9:72700626 [GRCh38]
Chr9:75315542 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1329G>T (p.Leu443=) single nucleotide variant not provided [RCV003701437] Chr9:72791990 [GRCh38]
Chr9:75406906 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.843G>T (p.Gly281=) single nucleotide variant not provided [RCV003560683] Chr9:72772514 [GRCh38]
Chr9:75387430 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2130-13_2130-9del deletion not provided [RCV003852376] Chr9:72830434..72830438 [GRCh38]
Chr9:75445350..75445354 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.362+11A>G single nucleotide variant not provided [RCV003666938] Chr9:72700654 [GRCh38]
Chr9:75315570 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1921C>T (p.Leu641=) single nucleotide variant not provided [RCV003663606] Chr9:72820999 [GRCh38]
Chr9:75435915 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1602C>T (p.Thr534=) single nucleotide variant not provided [RCV003850111] Chr9:72805417 [GRCh38]
Chr9:75420333 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1029+10C>G single nucleotide variant not provided [RCV003835245] Chr9:72788493 [GRCh38]
Chr9:75403409 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.789A>G (p.Lys263=) single nucleotide variant not provided [RCV003667888] Chr9:72772460 [GRCh38]
Chr9:75387376 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.814A>C (p.Arg272=) single nucleotide variant not provided [RCV003724852] Chr9:72772485 [GRCh38]
Chr9:75387401 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.648C>G (p.Leu216=) single nucleotide variant not provided [RCV003699669] Chr9:72754791 [GRCh38]
Chr9:75369707 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1980A>G (p.Pro660=) single nucleotide variant not provided [RCV003548796] Chr9:72821058 [GRCh38]
Chr9:75435974 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1275C>T (p.Asp425=) single nucleotide variant not provided [RCV003724667] Chr9:72791936 [GRCh38]
Chr9:75406852 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.453+14T>C single nucleotide variant not provided [RCV003834334] Chr9:72740223 [GRCh38]
Chr9:75355139 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.742-19C>A single nucleotide variant not provided [RCV003813825] Chr9:72772394 [GRCh38]
Chr9:75387310 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1405-1G>C single nucleotide variant not provided [RCV003665916] Chr9:72792190 [GRCh38]
Chr9:75407106 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.363-8T>C single nucleotide variant not provided [RCV003731255] Chr9:72740111 [GRCh38]
Chr9:75355027 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.375dup (p.Phe126fs) duplication not provided [RCV003731134] Chr9:72740124..72740125 [GRCh38]
Chr9:75355040..75355041 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1665T>C (p.Tyr555=) single nucleotide variant not provided [RCV003846267] Chr9:72805480 [GRCh38]
Chr9:75420396 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.331T>C (p.Trp111Arg) single nucleotide variant not provided [RCV003704599] Chr9:72700612 [GRCh38]
Chr9:75315528 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1946T>C (p.Met649Thr) single nucleotide variant not provided [RCV003703842] Chr9:72821024 [GRCh38]
Chr9:75435940 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.780T>C (p.Tyr260=) single nucleotide variant not provided [RCV003841439] Chr9:72772451 [GRCh38]
Chr9:75387367 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.536-1G>A single nucleotide variant not provided [RCV003727110] Chr9:72751849 [GRCh38]
Chr9:75366765 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.924C>T (p.Asp308=) single nucleotide variant not provided [RCV003707942] Chr9:72788378 [GRCh38]
Chr9:75403294 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2130-13_2130-12del deletion not provided [RCV003567775] Chr9:72830437..72830438 [GRCh38]
Chr9:75445353..75445354 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1405-2A>T single nucleotide variant not provided [RCV003731882] Chr9:72792189 [GRCh38]
Chr9:75407105 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.804G>A (p.Trp268Ter) single nucleotide variant not provided [RCV003734613] Chr9:72772475 [GRCh38]
Chr9:75387391 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.2209-17T>G single nucleotide variant not provided [RCV003858612] Chr9:72830614 [GRCh38]
Chr9:75445530 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1029+3_1029+4insT insertion not provided [RCV003859856] Chr9:72788486..72788487 [GRCh38]
Chr9:75403402..75403403 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1764-13G>C single nucleotide variant not provided [RCV003843097] Chr9:72820829 [GRCh38]
Chr9:75435745 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2261-13G>A single nucleotide variant not provided [RCV003676305] Chr9:72835938 [GRCh38]
Chr9:75450854 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1056C>A (p.Ala352=) single nucleotide variant not provided [RCV003550265] Chr9:72789149 [GRCh38]
Chr9:75404065 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1107C>T (p.Asn369=) single nucleotide variant not provided [RCV003710528] Chr9:72789200 [GRCh38]
Chr9:75404116 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1704C>T (p.Tyr568=) single nucleotide variant TMC1-related condition [RCV003939231]|not provided [RCV003841075] Chr9:72816151 [GRCh38]
Chr9:75431067 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1443T>C (p.Leu481=) single nucleotide variant not provided [RCV003858238] Chr9:72792229 [GRCh38]
Chr9:75407145 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.837A>G (p.Leu279=) single nucleotide variant not provided [RCV003564853] Chr9:72772508 [GRCh38]
Chr9:75387424 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.879C>G (p.Leu293=) single nucleotide variant not provided [RCV003675918] Chr9:72772550 [GRCh38]
Chr9:75387466 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1405-19C>A single nucleotide variant not provided [RCV003843560] Chr9:72792172 [GRCh38]
Chr9:75407088 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.696del (p.Glu233fs) deletion not provided [RCV003565032] Chr9:72754838 [GRCh38]
Chr9:75369754 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.87A>G (p.Glu29=) single nucleotide variant not provided [RCV003682266] Chr9:72694565 [GRCh38]
Chr9:75309481 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1224+9_1224+10del microsatellite not provided [RCV003857817] Chr9:72789323..72789324 [GRCh38]
Chr9:75404239..75404240 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.362+9C>T single nucleotide variant not provided [RCV003683088] Chr9:72700652 [GRCh38]
Chr9:75315568 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2004-20C>T single nucleotide variant not provided [RCV003709543] Chr9:72826849 [GRCh38]
Chr9:75441765 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1567-15A>G single nucleotide variant not provided [RCV003682373] Chr9:72805367 [GRCh38]
Chr9:75420283 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.942C>T (p.Ser314=) single nucleotide variant not provided [RCV003861852] Chr9:72788396 [GRCh38]
Chr9:75403312 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.65-8A>C single nucleotide variant not provided [RCV003711685] Chr9:72694535 [GRCh38]
Chr9:75309451 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.16+14C>A single nucleotide variant not provided [RCV003711693] Chr9:72648678 [GRCh38]
Chr9:75263594 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2261-16_2261-15insTAT insertion not provided [RCV003681707] Chr9:72835934..72835935 [GRCh38]
Chr9:75450850..75450851 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2260+27_2260+35del microsatellite not provided [RCV003845007] Chr9:72830698..72830706 [GRCh38]
Chr9:75445614..75445622 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1335C>T (p.Arg445=) single nucleotide variant not provided [RCV003679589] Chr9:72791996 [GRCh38]
Chr9:75406912 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1326A>T (p.Leu442=) single nucleotide variant not provided [RCV003722313] Chr9:72791987 [GRCh38]
Chr9:75406903 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.282dup (p.Glu95fs) duplication not provided [RCV003706452] Chr9:72700562..72700563 [GRCh38]
Chr9:75315478..75315479 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1404+17G>C single nucleotide variant not provided [RCV003685518] Chr9:72792082 [GRCh38]
Chr9:75406998 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1695+12G>A single nucleotide variant not provided [RCV003674743] Chr9:72805522 [GRCh38]
Chr9:75420438 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.663T>C (p.Tyr221=) single nucleotide variant not provided [RCV003729735] Chr9:72754806 [GRCh38]
Chr9:75369722 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.687T>C (p.Val229=) single nucleotide variant not provided [RCV003670729] Chr9:72754830 [GRCh38]
Chr9:75369746 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1365C>A (p.Tyr455Ter) single nucleotide variant not provided [RCV003565017] Chr9:72792026 [GRCh38]
Chr9:75406942 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.2208+7T>C single nucleotide variant not provided [RCV003685898] Chr9:72830536 [GRCh38]
Chr9:75445452 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.244G>T (p.Glu82Ter) single nucleotide variant not provided [RCV003847597] Chr9:72700525 [GRCh38]
Chr9:75315441 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.2163G>T (p.Lys721Asn) single nucleotide variant not provided [RCV003867926] Chr9:72830484 [GRCh38]
Chr9:75445400 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.759C>T (p.Ser253=) single nucleotide variant TMC1-related condition [RCV003954265]|not provided [RCV003554373] Chr9:72772430 [GRCh38]
Chr9:75387346 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.540G>A (p.Gln180=) single nucleotide variant not provided [RCV003684135] Chr9:72751854 [GRCh38]
Chr9:75366770 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1607A>G (p.Tyr536Cys) single nucleotide variant not provided [RCV003684191] Chr9:72805422 [GRCh38]
Chr9:75420338 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.177G>A (p.Glu59=) single nucleotide variant not provided [RCV003720137] Chr9:72694655 [GRCh38]
Chr9:75309571 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.435T>C (p.Phe145=) single nucleotide variant not provided [RCV003704440] Chr9:72740191 [GRCh38]
Chr9:75355107 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1302T>C (p.His434=) single nucleotide variant not provided [RCV003720359] Chr9:72791963 [GRCh38]
Chr9:75406879 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.885-8T>G single nucleotide variant not provided [RCV003868642] Chr9:72788331 [GRCh38]
Chr9:75403247 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1440C>T (p.Thr480=) single nucleotide variant not provided [RCV003684610] Chr9:72792226 [GRCh38]
Chr9:75407142 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.237-7T>G single nucleotide variant not provided [RCV003860509] Chr9:72700511 [GRCh38]
Chr9:75315427 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1368A>G (p.Val456=) single nucleotide variant not provided [RCV003718685] Chr9:72792029 [GRCh38]
Chr9:75406945 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2129+10T>C single nucleotide variant not provided [RCV003872290] Chr9:72827004 [GRCh38]
Chr9:75441920 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.64+11A>T single nucleotide variant not provided [RCV003872322] Chr9:72688767 [GRCh38]
Chr9:75303683 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2209-18T>G single nucleotide variant not provided [RCV003684601] Chr9:72830613 [GRCh38]
Chr9:75445529 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1902C>T (p.Asn634=) single nucleotide variant not provided [RCV003541924] Chr9:72820980 [GRCh38]
Chr9:75435896 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.765C>A (p.Leu255=) single nucleotide variant not provided [RCV003719030] Chr9:72772436 [GRCh38]
Chr9:75387352 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1965C>T (p.Ile655=) single nucleotide variant not provided [RCV003820618] Chr9:72821043 [GRCh38]
Chr9:75435959 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1539A>G (p.Gly513=) single nucleotide variant not provided [RCV003683854] Chr9:72792325 [GRCh38]
Chr9:75407241 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1989T>C (p.Asp663=) single nucleotide variant not provided [RCV003819269] Chr9:72821067 [GRCh38]
Chr9:75435983 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1695+2T>G single nucleotide variant not provided [RCV003721336] Chr9:72805512 [GRCh38]
Chr9:75420428 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.64+2T>C single nucleotide variant not provided [RCV003557445] Chr9:72688758 [GRCh38]
Chr9:75303674 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.247G>T (p.Glu83Ter) single nucleotide variant not provided [RCV003557446] Chr9:72700528 [GRCh38]
Chr9:75315444 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.589G>A (p.Gly197Arg) single nucleotide variant not provided [RCV003557447] Chr9:72751903 [GRCh38]
Chr9:75366819 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.790C>T (p.Arg264Ter) single nucleotide variant not provided [RCV003557448] Chr9:72772461 [GRCh38]
Chr9:75387377 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.800G>A (p.Gly267Glu) single nucleotide variant not provided [RCV003557449] Chr9:72772471 [GRCh38]
Chr9:75387387 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1166G>A (p.Arg389Gln) single nucleotide variant not provided [RCV003557450] Chr9:72789259 [GRCh38]
Chr9:75404175 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1398CAA[1] (p.Asn467del) microsatellite not provided [RCV003557451] Chr9:72792057..72792059 [GRCh38]
Chr9:75406973..75406975 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1763+17A>G single nucleotide variant not provided [RCV003551756] Chr9:72816227 [GRCh38]
Chr9:75431143 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.975C>T (p.Ile325=) single nucleotide variant not provided [RCV003870037] Chr9:72788429 [GRCh38]
Chr9:75403345 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2130-13C>T single nucleotide variant not provided [RCV003708256] Chr9:72830438 [GRCh38]
Chr9:75445354 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.399T>C (p.Ala133=) single nucleotide variant not provided [RCV003684325] Chr9:72740155 [GRCh38]
Chr9:75355071 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1276T>C (p.Leu426=) single nucleotide variant not provided [RCV003845557] Chr9:72791937 [GRCh38]
Chr9:75406853 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2016A>G (p.Arg672=) single nucleotide variant not provided [RCV003868788] Chr9:72826881 [GRCh38]
Chr9:75441797 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.536-7G>A single nucleotide variant not provided [RCV003706012] Chr9:72751843 [GRCh38]
Chr9:75366759 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2261-17T>G single nucleotide variant not provided [RCV003860266] Chr9:72835934 [GRCh38]
Chr9:75450850 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.741+8T>A single nucleotide variant not provided [RCV003821735] Chr9:72754892 [GRCh38]
Chr9:75369808 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1701A>G (p.Ser567=) single nucleotide variant not provided [RCV003704750] Chr9:72816148 [GRCh38]
Chr9:75431064 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.822G>T (p.Pro274=) single nucleotide variant not provided [RCV003682154] Chr9:72772493 [GRCh38]
Chr9:75387409 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1695+11T>C single nucleotide variant not provided [RCV003865139] Chr9:72805521 [GRCh38]
Chr9:75420437 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.645C>A (p.Tyr215Ter) single nucleotide variant not provided [RCV003682604] Chr9:72754788 [GRCh38]
Chr9:75369704 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1143C>T (p.Tyr381=) single nucleotide variant not provided [RCV003865602] Chr9:72789236 [GRCh38]
Chr9:75404152 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1030-20G>T single nucleotide variant not provided [RCV003704844] Chr9:72789103 [GRCh38]
Chr9:75404019 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2283A>G (p.Ter761=) single nucleotide variant not provided [RCV003682433] Chr9:72835973 [GRCh38]
Chr9:75450889 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.453+15A>C single nucleotide variant not provided [RCV003718665] Chr9:72740224 [GRCh38]
Chr9:75355140 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1544G>T (p.Cys515Phe) single nucleotide variant not provided [RCV003863700] Chr9:72792330 [GRCh38]
Chr9:75407246 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_138691.3(TMC1):c.1309A>G (p.Ile437Val) single nucleotide variant not provided [RCV003679595] Chr9:72791970 [GRCh38]
Chr9:75406886 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.535+20C>T single nucleotide variant not provided [RCV003847801] Chr9:72742545 [GRCh38]
Chr9:75357461 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.236+9G>C single nucleotide variant not provided [RCV003704798] Chr9:72694723 [GRCh38]
Chr9:75309639 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.885-9T>C single nucleotide variant not provided [RCV003704801] Chr9:72788330 [GRCh38]
Chr9:75403246 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.717C>T (p.Asn239=) single nucleotide variant not provided [RCV003732206] Chr9:72754860 [GRCh38]
Chr9:75369776 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1326_1330delinsTTGAAAT (p.Leu443_Gly444delinsTer) indel not provided [RCV003703889] Chr9:72791987..72791991 [GRCh38]
Chr9:75406903..75406907 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.454-9T>C single nucleotide variant not provided [RCV003564690] Chr9:72742435 [GRCh38]
Chr9:75357351 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1002A>G (p.Lys334=) single nucleotide variant not provided [RCV003853666] Chr9:72788456 [GRCh38]
Chr9:75403372 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.72G>A (p.Glu24=) single nucleotide variant not provided [RCV003730883] Chr9:72694550 [GRCh38]
Chr9:75309466 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1332del (p.Arg445fs) deletion not provided [RCV003563806] Chr9:72791993 [GRCh38]
Chr9:75406909 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1080G>A (p.Leu360=) single nucleotide variant not provided [RCV003564970] Chr9:72789173 [GRCh38]
Chr9:75404089 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1695+17T>G single nucleotide variant not provided [RCV003678370] Chr9:72805527 [GRCh38]
Chr9:75420443 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1764-17T>G single nucleotide variant not provided [RCV003857157] Chr9:72820825 [GRCh38]
Chr9:75435741 [GRCh37]
Chr9:9q21.13		 likely benign
NC_000009.12:g.72740120_72740123del deletion not provided [RCV003864552] Chr9:72740117..72740120 [GRCh38]
Chr9:75355033..75355036 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.863_867delinsCATAATCAATACG (p.Ser288_Phe289delinsThrTer) indel not provided [RCV003563751] Chr9:72772534..72772538 [GRCh38]
Chr9:75387450..75387454 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.65-8A>G single nucleotide variant not provided [RCV003821136] Chr9:72694535 [GRCh38]
Chr9:75309451 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2260+8A>C single nucleotide variant not provided [RCV003565091] Chr9:72830690 [GRCh38]
Chr9:75445606 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2260+11C>T single nucleotide variant not provided [RCV003819876] Chr9:72830693 [GRCh38]
Chr9:75445609 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2097T>C (p.Pro699=) single nucleotide variant not provided [RCV003863082] Chr9:72826962 [GRCh38]
Chr9:75441878 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.9C>T (p.Pro3=) single nucleotide variant not provided [RCV003820188] Chr9:72648657 [GRCh38]
Chr9:75263573 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1404+18A>G single nucleotide variant not provided [RCV003821306] Chr9:72792083 [GRCh38]
Chr9:75406999 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1707C>T (p.Thr569=) single nucleotide variant not provided [RCV003860253] Chr9:72816154 [GRCh38]
Chr9:75431070 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2003+18T>C single nucleotide variant not provided [RCV003842551] Chr9:72821099 [GRCh38]
Chr9:75436015 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1670G>C (p.Trp557Ser) single nucleotide variant not provided [RCV003680402] Chr9:72805485 [GRCh38]
Chr9:75420401 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.645C>T (p.Tyr215=) single nucleotide variant not provided [RCV003562927] Chr9:72754788 [GRCh38]
Chr9:75369704 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2209-16A>G single nucleotide variant not provided [RCV003541914] Chr9:72830615 [GRCh38]
Chr9:75445531 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.871del (p.Val291fs) deletion Autosomal recessive nonsyndromic hearing loss 7 [RCV003885394] Chr9:72772541 [GRCh38]
Chr9:75387457 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1198A>T (p.Thr400Ser) single nucleotide variant not specified [RCV003988331] Chr9:72789291 [GRCh38]
Chr9:75404207 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9q21.13(chr9:75016020-75172870)x1 copy number loss not specified [RCV003986791] Chr9:75016020..75172870 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.16+4T>C single nucleotide variant TMC1-related condition [RCV003904544] Chr9:72648668 [GRCh38]
Chr9:75263584 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.853A>C (p.Ile285Leu) single nucleotide variant not provided [RCV001771472] Chr9:72772524 [GRCh38]
Chr9:75387440 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.697G>A (p.Glu233Lys) single nucleotide variant not provided [RCV001773146] Chr9:72754840 [GRCh38]
Chr9:75369756 [GRCh37]
Chr9:9q21.13		 uncertain significance
NC_000009.11:g.(?_75231331)_(75407288_?)del deletion not provided [RCV003123081] Chr9:75231331..75407288 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV003152452] Chr9:72805442 [GRCh38]
Chr9:75420358 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_138691.3(TMC1):c.1663T>G (p.Tyr555Asp) single nucleotide variant not provided [RCV003149482] Chr9:72805478 [GRCh38]
Chr9:75420394 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.1563A>G (p.Gly521=) single nucleotide variant not provided [RCV002979542] Chr9:72792349 [GRCh38]
Chr9:75407265 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1343C>G (p.Ala448Gly) single nucleotide variant not provided [RCV003149304] Chr9:72792004 [GRCh38]
Chr9:75406920 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.2219del (p.Glu740fs) deletion not provided [RCV003149450] Chr9:72830641 [GRCh38]
Chr9:75445557 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.257A>G (p.Glu86Gly) single nucleotide variant not provided [RCV003228274] Chr9:72700538 [GRCh38]
Chr9:75315454 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_138691.3(TMC1):c.65-11G>C single nucleotide variant not provided [RCV003695760] Chr9:72694532 [GRCh38]
Chr9:75309448 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.1224+13A>C single nucleotide variant not provided [RCV003703592] Chr9:72789330 [GRCh38]
Chr9:75404246 [GRCh37]
Chr9:9q21.13		 likely benign
NM_138691.3(TMC1):c.2208+11A>G single nucleotide variant not provided [RCV003866153] Chr9:72830540 [GRCh38]
Chr9:75445456 [GRCh37]
Chr9:9q21.13		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:773
Count of miRNA genes:485
Interacting mature miRNAs:518
Transcripts:ENST00000297784, ENST00000340019, ENST00000396237, ENST00000469455, ENST00000486417, ENST00000492418, ENST00000497073
Prediction methods:Microtar, 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.

Markers in Region
D9S1876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,232,791 - 75,232,938UniSTSGRCh37
Build 36974,422,611 - 74,422,758RGDNCBI36
Celera945,805,667 - 45,805,814RGD
Cytogenetic Map9q21.12UniSTS
HuRef945,056,136 - 45,056,279UniSTS
Marshfield Genetic Map967.93UniSTS
Marshfield Genetic Map967.93RGD
Genethon Genetic Map966.5UniSTS
TNG Radiation Hybrid Map924533.0UniSTS
deCODE Assembly Map968.3UniSTS
Stanford-G3 RH Map92116.0UniSTS
GeneMap99-GB4 RH Map9252.75UniSTS
NCBI RH Map9658.3UniSTS
GeneMap99-G3 RH Map92071.0UniSTS
D9S1837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,185,129 - 75,185,367UniSTSGRCh37
Build 36974,374,949 - 74,375,187RGDNCBI36
Celera945,758,010 - 45,758,234RGD
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map9q21.12UniSTS
Marshfield Genetic Map967.39UniSTS
Marshfield Genetic Map967.39RGD
Genethon Genetic Map966.0UniSTS
deCODE Assembly Map968.3UniSTS
D9S1124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,224,065 - 75,224,327UniSTSGRCh37
Build 36974,413,885 - 74,414,147RGDNCBI36
Celera945,796,941 - 45,797,203RGD
Cytogenetic Map9q21.12UniSTS
HuRef945,047,099 - 45,047,361UniSTS
Marshfield Genetic Map967.39UniSTS
Marshfield Genetic Map967.39RGD
SHGC-82771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,379,670 - 75,379,981UniSTSGRCh37
Build 36974,569,490 - 74,569,801RGDNCBI36
Celera945,952,526 - 45,952,837RGD
Cytogenetic Map9q21.12UniSTS
HuRef945,203,008 - 45,203,319UniSTS
TNG Radiation Hybrid Map924914.0UniSTS
SHGC-85731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,434,637 - 75,434,979UniSTSGRCh37
Build 36974,624,457 - 74,624,799RGDNCBI36
Celera946,007,493 - 46,007,835RGD
Cytogenetic Map9q21.12UniSTS
HuRef945,257,965 - 45,258,307UniSTS
TNG Radiation Hybrid Map924957.0UniSTS
RH120638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,434,637 - 75,434,912UniSTSGRCh37
Build 36974,624,457 - 74,624,732RGDNCBI36
Celera946,007,493 - 46,007,768RGD
Cytogenetic Map9q21.12UniSTS
HuRef945,257,965 - 45,258,240UniSTS
TNG Radiation Hybrid Map924960.0UniSTS
G59654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,206,215 - 75,206,431UniSTSGRCh37
Build 36974,396,035 - 74,396,251RGDNCBI36
Celera945,779,081 - 45,779,297RGD
Cytogenetic Map9q21.12UniSTS
HuRef945,029,232 - 45,029,448UniSTS
TNG Radiation Hybrid Map924529.0UniSTS
TNG Radiation Hybrid Map924525.0UniSTS
G62710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,363,320 - 75,363,600UniSTSGRCh37
Build 36974,553,140 - 74,553,420RGDNCBI36
Celera945,936,173 - 45,936,453RGD
Cytogenetic Map9q21.12UniSTS
HuRef945,186,688 - 45,186,968UniSTS
TNG Radiation Hybrid Map924682.0UniSTS
SHGC-151241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,185,094 - 75,185,364UniSTSGRCh37
Build 36974,374,914 - 74,375,184RGDNCBI36
Celera945,757,975 - 45,758,231RGD
Cytogenetic Map9q21.12UniSTS
TNG Radiation Hybrid Map143832.0UniSTS
TNG Radiation Hybrid Map924553.0UniSTS
SHGC-148828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,148,233 - 75,148,526UniSTSGRCh37
Build 36974,338,053 - 74,338,346RGDNCBI36
Celera945,721,096 - 45,721,389RGD
Cytogenetic Map9q21.12UniSTS
HuRef944,971,439 - 44,971,732UniSTS
TNG Radiation Hybrid Map924582.0UniSTS
SHGC-153684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,406,127 - 75,406,399UniSTSGRCh37
Build 36974,595,947 - 74,596,219RGDNCBI36
Celera945,978,983 - 45,979,255RGD
Cytogenetic Map9q21.12UniSTS
HuRef945,229,462 - 45,229,734UniSTS
TNG Radiation Hybrid Map924942.0UniSTS
SHGC-152476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,185,158 - 75,185,447UniSTSGRCh37
GRCh37975,185,148 - 75,185,447UniSTSGRCh37
Build 36974,374,968 - 74,375,267RGDNCBI36
Celera945,758,027 - 45,758,314UniSTS
Celera945,758,025 - 45,758,314RGD
Cytogenetic Map9q21.12UniSTS
TNG Radiation Hybrid Map949482.0UniSTS
SHGC-3163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,381,695 - 75,381,835UniSTSGRCh37
Build 36974,571,515 - 74,571,655RGDNCBI36
Celera945,954,551 - 45,954,691RGD
Cytogenetic Map9q21.12UniSTS
HuRef945,205,032 - 45,205,172UniSTS
D2S2650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,202,549 - 75,202,653UniSTSGRCh37
Build 36974,392,369 - 74,392,473RGDNCBI36
Celera945,775,415 - 45,775,519RGD
Cytogenetic Map9q21.12UniSTS
HuRef945,025,567 - 45,025,671UniSTS
Whitehead-YAC Contig Map2 UniSTS
G54585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,206,032 - 75,206,433UniSTSGRCh37
Celera945,778,898 - 45,779,299UniSTS
Cytogenetic Map9q21.12UniSTS
HuRef945,029,049 - 45,029,450UniSTS


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 1 1 5
Low 35 3 10 7 33 5 234 92 256 62 624 51 5 17 94 4
Below cutoff 1992 1975 1308 349 710 197 3835 1800 3369 273 756 1233 161 1172 2466

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF417578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY546105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY546106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY031448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297784   ⟹   ENSP00000297784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,521,608 - 72,838,297 (+)Ensembl
RefSeq Acc Id: ENST00000340019   ⟹   ENSP00000341433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,616,266 - 72,836,351 (+)Ensembl
RefSeq Acc Id: ENST00000469455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,808,883 - 72,830,519 (+)Ensembl
RefSeq Acc Id: ENST00000486417   ⟹   ENSP00000493816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,792,038 - 72,836,320 (+)Ensembl
RefSeq Acc Id: ENST00000492418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,628,025 - 72,651,618 (+)Ensembl
RefSeq Acc Id: ENST00000497073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,577,788 - 72,628,344 (+)Ensembl
RefSeq Acc Id: ENST00000643676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,521,608 - 72,627,969 (+)Ensembl
RefSeq Acc Id: ENST00000644967   ⟹   ENSP00000496159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,628,020 - 72,836,061 (+)Ensembl
RefSeq Acc Id: ENST00000645053   ⟹   ENSP00000493838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,577,922 - 72,838,230 (+)Ensembl
RefSeq Acc Id: ENST00000645208   ⟹   ENSP00000494684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,577,788 - 72,838,291 (+)Ensembl
RefSeq Acc Id: ENST00000645773   ⟹   ENSP00000493698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,577,939 - 72,830,511 (+)Ensembl
RefSeq Acc Id: ENST00000645787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,628,020 - 72,836,061 (+)Ensembl
RefSeq Acc Id: ENST00000646244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,577,920 - 72,700,736 (+)Ensembl
RefSeq Acc Id: ENST00000646619   ⟹   ENSP00000493726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,628,020 - 72,836,061 (+)Ensembl
RefSeq Acc Id: ENST00000650689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,577,391 - 72,792,610 (+)Ensembl
RefSeq Acc Id: ENST00000651183   ⟹   ENSP00000498723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,577,369 - 72,838,272 (+)Ensembl
RefSeq Acc Id: ENST00000651743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,577,341 - 72,652,886 (+)Ensembl
RefSeq Acc Id: NM_138691   ⟹   NP_619636
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38972,521,608 - 72,838,297 (+)NCBI
GRCh37975,136,717 - 75,451,267 (+)ENTREZGENE
Build 36974,326,537 - 74,641,087 (+)NCBI Archive
HuRef944,959,937 - 45,274,606 (+)ENTREZGENE
CHM1_1975,283,347 - 75,597,903 (+)NCBI
T2T-CHM13v2.0984,672,507 - 84,989,215 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014256   ⟹   XP_016869745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38972,607,757 - 72,838,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054361949   ⟹   XP_054217924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0984,758,664 - 84,987,237 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_619636   ⟸   NM_138691
- UniProtKB: A8MVZ2 (UniProtKB/Swiss-Prot),   B1AM91 (UniProtKB/Swiss-Prot),   Q8TDI8 (UniProtKB/Swiss-Prot),   Q3MI88 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869745   ⟸   XM_017014256
- Peptide Label: isoform X1
- UniProtKB: Q3MI88 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000297784   ⟸   ENST00000297784
RefSeq Acc Id: ENSP00000498723   ⟸   ENST00000651183
RefSeq Acc Id: ENSP00000493816   ⟸   ENST00000486417
RefSeq Acc Id: ENSP00000341433   ⟸   ENST00000340019
RefSeq Acc Id: ENSP00000496159   ⟸   ENST00000644967
RefSeq Acc Id: ENSP00000493698   ⟸   ENST00000645773
RefSeq Acc Id: ENSP00000493838   ⟸   ENST00000645053
RefSeq Acc Id: ENSP00000494684   ⟸   ENST00000645208
RefSeq Acc Id: ENSP00000493726   ⟸   ENST00000646619
RefSeq Acc Id: XP_054217924   ⟸   XM_054361949
- Peptide Label: isoform X1
Protein Domains
TMC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TDI8-F1-model_v2 AlphaFold Q8TDI8 1-760 view protein structure

Promoters
RGD ID:7215253
Promoter ID:EPDNEW_H13373
Type:single initiation site
Name:TMC1_1
Description:transmembrane channel like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38972,611,819 - 72,611,879EPDNEW
RGD ID:6808303
Promoter ID:HG_KWN:63662
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000052657,   UC010MOZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36974,381,981 - 74,382,481 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16513 AgrOrtholog
COSMIC TMC1 COSMIC
Ensembl Genes ENSG00000165091 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000297784 ENTREZGENE
  ENST00000297784.10 UniProtKB/Swiss-Prot
  ENST00000340019.4 UniProtKB/Swiss-Prot
  ENST00000486417.5 UniProtKB/TrEMBL
  ENST00000644967.1 UniProtKB/TrEMBL
  ENST00000645053.1 UniProtKB/TrEMBL
  ENST00000645208.2 UniProtKB/Swiss-Prot
  ENST00000645773.1 UniProtKB/TrEMBL
  ENST00000646619.1 UniProtKB/TrEMBL
  ENST00000651183.1 UniProtKB/TrEMBL
GTEx ENSG00000165091 GTEx
HGNC ID HGNC:16513 ENTREZGENE
Human Proteome Map TMC1 Human Proteome Map
InterPro TMC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TMC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:117531 UniProtKB/Swiss-Prot
NCBI Gene 117531 ENTREZGENE
OMIM 606706 OMIM
PANTHER PTHR23302 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSMEMBRANE CHANNEL-LIKE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TMC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38156 PharmGKB
UniProt A0A2R8Y434_HUMAN UniProtKB/TrEMBL
  A0A2R8YDA3_HUMAN UniProtKB/TrEMBL
  A0A2R8YDJ2_HUMAN UniProtKB/TrEMBL
  A0A2R8YDK2_HUMAN UniProtKB/TrEMBL
  A0A2R8YGM2_HUMAN UniProtKB/TrEMBL
  A0A494C0T8_HUMAN UniProtKB/TrEMBL
  A4FU59_HUMAN UniProtKB/TrEMBL
  A4FUA6_HUMAN UniProtKB/TrEMBL
  A5D8Y1_HUMAN UniProtKB/TrEMBL
  A8MVZ2 ENTREZGENE
  B1AM91 ENTREZGENE
  Q3MI88 ENTREZGENE, UniProtKB/TrEMBL
  Q8TDI8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MVZ2 UniProtKB/Swiss-Prot
  B1AM91 UniProtKB/Swiss-Prot
  E9PEW6 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TMC1  transmembrane channel like 1  TMC1  transmembrane channel-like 1  Symbol and/or name change 5135510 APPROVED