MYO7A (myosin VIIA) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: MYO7A (myosin VIIA) Homo sapiens
Analyze
Symbol: MYO7A
Name: myosin VIIA
RGD ID: 732206
HGNC Page HGNC:7606
Description: Enables calmodulin binding activity; cytoskeletal protein binding activity; and microfilament motor activity. Involved in several processes, including equilibrioception; lysosome organization; and visual perception. Acts upstream of or within sensory perception of sound. Located in several cellular components, including lysosomal membrane; photoreceptor inner segment; and photoreceptor outer segment. Implicated in Leber congenital amaurosis; Usher syndrome (multiple); auditory system disease (multiple); and congenital nystagmus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: deafness, autosomal dominant 11; deafness, autosomal recessive 2; DFNA11; DFNB2; myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)); myosin-VIIa; MYOVIIA; MYU7A; NSRD2; unconventional myosin-VIIa; USH1B
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
GRCh381177,128,246 - 77,215,241 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1177,128,246 - 77,215,241 (+)EnsemblGRCh38hg38GRCh38
GRCh371176,839,292 - 76,926,286 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361176,516,964 - 76,603,932 (+)NCBINCBI36Build 36hg18NCBI36
Build 341176,516,957 - 76,603,931NCBI
Celera1174,146,794 - 74,233,913 (+)NCBICelera
Cytogenetic Map11q13.5NCBI
HuRef1173,136,682 - 73,224,253 (+)NCBIHuRef
CHM1_11176,722,561 - 76,809,502 (+)NCBICHM1_1
T2T-CHM13v2.01177,058,823 - 77,147,851 (+)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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. Ben-Salem S, etal., Mol Biol Rep. 2014 Jan;41(1):193-200. doi: 10.1007/s11033-013-2851-5. Epub 2013 Nov 6.
2. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. Boeda B, etal., EMBO J 2002 Dec 16;21(24):6689-99.
3. Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy. Colella P, etal., PLoS One. 2013 Aug 26;8(8):e72027. doi: 10.1371/journal.pone.0072027. eCollection 2013.
4. Mechanotransduction by hair cells: models, molecules, and mechanisms. Gillespie PG and Muller U, Cell. 2009 Oct 2;139(1):33-44. doi: 10.1016/j.cell.2009.09.010.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Sensing sound: molecules that orchestrate mechanotransduction by hair cells. Kazmierczak P and Muller U, Trends Neurosci. 2012 Apr;35(4):220-9. doi: 10.1016/j.tins.2011.10.007. Epub 2011 Dec 15.
7. Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A. Kumar A, etal., Mol Vis. 2004 Nov 24;10:910-6.
8. Mutation analysis of the mouse myosin VIIA deafness gene. Mburu P, etal., Genes Funct. 1997 Jun;1(3):191-203.
9. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Najera C, etal., Hum Mutat. 2002 Jul;20(1):76-7.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. Smits BM, etal., Genetics. 2005 Aug;170(4):1887-96. Epub 2005 Jun 18.
15. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Wang X, etal., Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587. Epub 2011 Sep 23.
16. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Weston MD, etal., Am J Hum Genet. 1996 Nov;59(5):1074-83.
17. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
18. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
19. Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. Zheng QY, etal., Hum Mol Genet. 2012 Jun 1;21(11):2588-98. doi: 10.1093/hmg/dds084. Epub 2012 Feb 29.
Additional References at PubMed
PMID:1478677   PMID:7568224   PMID:7870171   PMID:7951250   PMID:8022818   PMID:8599365   PMID:8622919   PMID:8776602   PMID:8842737   PMID:8884266   PMID:8884267   PMID:9002678  
PMID:9070921   PMID:9171832   PMID:9171833   PMID:9354784   PMID:9382091   PMID:9718356   PMID:9843659   PMID:10094549   PMID:10364543   PMID:10889203   PMID:10930322   PMID:11080149  
PMID:11162241   PMID:11171103   PMID:11398101   PMID:11921171   PMID:11964381   PMID:12221080   PMID:12466270   PMID:12477932   PMID:12588794   PMID:15121790   PMID:15180257   PMID:15221449  
PMID:15300860   PMID:15590698   PMID:15606003   PMID:15660226   PMID:15823922   PMID:15976448   PMID:16001398   PMID:16226712   PMID:16400615   PMID:16449806   PMID:16470552   PMID:16679490  
PMID:17093394   PMID:17361009   PMID:17702415   PMID:17960123   PMID:18181211   PMID:18323324   PMID:18463160   PMID:18484607   PMID:18700726   PMID:19074810   PMID:19299023   PMID:19320733  
PMID:19324852   PMID:19375528   PMID:19683999   PMID:19948975   PMID:20132242   PMID:20201926   PMID:20301442   PMID:20301607   PMID:20801516   PMID:20844544   PMID:21031134   PMID:21150918  
PMID:21378158   PMID:21482763   PMID:21687988   PMID:21873635   PMID:21873662   PMID:22219650   PMID:22681893   PMID:22690115   PMID:22745667   PMID:23023331   PMID:23344065   PMID:23383098  
PMID:23559863   PMID:23704327   PMID:23770805   PMID:24022220   PMID:24199935   PMID:24275721   PMID:24618850   PMID:24831256   PMID:25080338   PMID:25558175   PMID:25798074   PMID:26001786  
PMID:26186194   PMID:26469752   PMID:26864046   PMID:26960254   PMID:26968074   PMID:27013738   PMID:27083884   PMID:27173435   PMID:27409480   PMID:27440999   PMID:27729122   PMID:27743438  
PMID:27828912   PMID:28262393   PMID:28472130   PMID:28507101   PMID:28514442   PMID:28660889   PMID:28688563   PMID:28731162   PMID:29142287   PMID:29287847   PMID:29287864   PMID:29361540  
PMID:29400105   PMID:29490346   PMID:29605349   PMID:29676528   PMID:30358468   PMID:30631154   PMID:30826590   PMID:31182584   PMID:31266775   PMID:31320737   PMID:31343991   PMID:31479088  
PMID:31598937   PMID:31644917   PMID:31997689   PMID:32097363   PMID:32428919   PMID:32460013   PMID:33576163   PMID:33671976   PMID:33961781   PMID:33976695   PMID:34391192   PMID:34948090  
PMID:35256949   PMID:35748872   PMID:36164746   PMID:36484953   PMID:36517590   PMID:36630074   PMID:37586294   PMID:37996878  


Genomics

Comparative Map Data
MYO7A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381177,128,246 - 77,215,241 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1177,128,246 - 77,215,241 (+)EnsemblGRCh38hg38GRCh38
GRCh371176,839,292 - 76,926,286 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361176,516,964 - 76,603,932 (+)NCBINCBI36Build 36hg18NCBI36
Build 341176,516,957 - 76,603,931NCBI
Celera1174,146,794 - 74,233,913 (+)NCBICelera
Cytogenetic Map11q13.5NCBI
HuRef1173,136,682 - 73,224,253 (+)NCBIHuRef
CHM1_11176,722,561 - 76,809,502 (+)NCBICHM1_1
T2T-CHM13v2.01177,058,823 - 77,147,851 (+)NCBIT2T-CHM13v2.0
Myo7a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39797,700,261 - 97,768,730 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl797,700,267 - 97,768,731 (-)EnsemblGRCm39 Ensembl
GRCm38798,051,054 - 98,119,522 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl798,051,060 - 98,119,524 (-)EnsemblGRCm38mm10GRCm38
MGSCv377105,199,570 - 105,268,003 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36797,926,593 - 97,992,926 (-)NCBIMGSCv36mm8
Celera798,371,628 - 98,440,211 (-)NCBICelera
Cytogenetic Map7E1NCBI
cM Map753.57NCBI
Myo7a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81161,755,110 - 161,825,397 (-)NCBIGRCr8
mRatBN7.21152,342,611 - 152,414,171 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1152,344,448 - 152,414,157 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1160,331,375 - 160,401,213 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01167,511,561 - 167,581,393 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01160,385,070 - 160,454,912 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01163,001,313 - 163,071,545 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1163,001,875 - 163,071,508 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01169,206,150 - 169,276,706 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41155,292,620 - 155,362,698 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11155,371,025 - 155,441,104 (-)NCBI
Celera1150,435,342 - 150,505,024 (-)NCBICelera
Cytogenetic Map1q32NCBI
Myo7a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541414,576,356 - 14,647,500 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541414,576,356 - 14,647,500 (-)NCBIChiLan1.0ChiLan1.0
MYO7A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2978,045,811 - 78,134,539 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11179,093,985 - 79,182,922 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01172,187,024 - 72,265,931 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11175,834,409 - 75,908,297 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1175,834,185 - 75,907,752 (+)Ensemblpanpan1.1panPan2
MYO7A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12121,539,735 - 21,624,063 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2121,539,785 - 21,624,279 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2121,371,283 - 21,451,548 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02121,739,388 - 21,823,670 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2121,739,387 - 21,823,979 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12121,514,983 - 21,599,193 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02121,731,135 - 21,815,380 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02121,654,692 - 21,739,052 (-)NCBIUU_Cfam_GSD_1.0
Myo7a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494764,150,067 - 64,224,924 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364985,751,779 - 5,824,378 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364985,758,572 - 5,824,526 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYO7A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl911,249,075 - 11,666,296 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1911,251,187 - 11,337,618 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2912,345,556 - 12,430,950 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MYO7A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1168,334,781 - 68,423,215 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl168,350,598 - 68,425,625 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604357,352,101 - 57,439,357 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myo7a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624863205,478 - 283,839 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624863205,468 - 283,840 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYO7A
3224 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000260.4(MYO7A):c.78G>T (p.Ala26=) single nucleotide variant not provided [RCV003011613] Chr11:77142768 [GRCh38]
Chr11:76853814 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5945-9G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000515762]|not provided [RCV002525012] Chr11:77208688 [GRCh38]
Chr11:76919733 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000022815]|Rare genetic deafness [RCV000215956]|See cases [RCV002251923]|Usher syndrome type 1B [RCV001275897]|not provided [RCV000822163] Chr11:77156921 [GRCh38]
Chr11:76867967 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000022816]|not specified [RCV000151492] Chr11:77174831 [GRCh38]
Chr11:76885877 [GRCh37]
Chr11:11q13.5
pathogenic|uncertain significance
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000022817]|Usher syndrome [RCV003317043]|not provided [RCV001852003] Chr11:77160266 [GRCh38]
Chr11:76871312 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.767A>G (p.Tyr256Cys) single nucleotide variant Usher syndrome type 1 [RCV001526726] Chr11:77157310 [GRCh38]
Chr11:76868356 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1201-173A>G single nucleotide variant not provided [RCV001571529] Chr11:77160800 [GRCh38]
Chr11:76871846 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs) duplication Hearing loss, autosomal recessive [RCV001291473]|not provided [RCV001863165] Chr11:77182449..77182450 [GRCh38]
Chr11:76893494..76893495 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV003447544]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000770845]|Hearing loss, autosomal recessive [RCV001291469]|Rare genetic deafness [RCV000601432]|Usher syndrome type 1 [RCV001003083]|not provided [RCV001091730] Chr11:77161030 [GRCh38]
Chr11:76872076 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val) single nucleotide variant Retinitis pigmentosa [RCV000132570] Chr11:77162965 [GRCh38]
Chr11:76874011 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) single nucleotide variant Usher syndrome [RCV000036148]|Usher syndrome type 1B [RCV000012621]|not provided [RCV001390811] Chr11:77156069 [GRCh38]
Chr11:76867115 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669392]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001807725]|Rare genetic deafness [RCV000036246]|Usher syndrome type 1 [RCV001003081]|Usher syndrome type 1B [RCV000012622]|not provided [RCV001390813] Chr11:77156969 [GRCh38]
Chr11:76868015 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del) deletion Usher syndrome type 1B [RCV000012623] Chr11:77156916..77156921 [GRCh38]
Chr11:76867962..76867967 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665766]|Rare genetic deafness [RCV000036232]|Retinal dystrophy [RCV001073914]|Usher syndrome [RCV003389443]|Usher syndrome type 1B [RCV000012624]|not provided [RCV001221383] Chr11:77156904 [GRCh38]
Chr11:76867950 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) single nucleotide variant Usher syndrome type 1B [RCV000012625]|not provided [RCV001047241] Chr11:77156903 [GRCh38]
Chr11:76867949 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000282374]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002490355]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000337254]|Usher syndrome [RCV000758141]|Usher syndrome type 1 [RCV000386045]|Usher syndrome type 1B [RCV000012626]|not provided [RCV000835045]|not specified [RCV000036251] Chr11:77158332 [GRCh38]
Chr11:76869378 [GRCh37]
Chr11:11q13.5
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000012627] Chr11:77157000 [GRCh38]
Chr11:76868046 [GRCh37]
Chr11:11q13.5
pathogenic
MYO7A, IVS3AS, A-G, -2 single nucleotide variant Deafness, autosomal recessive 2 [RCV000012628] Chr11:11q13.5 pathogenic
NM_000260.4(MYO7A):c.3596dup (p.Cys1201fs) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000012629] Chr11:77189435..77189436 [GRCh38]
Chr11:76900480..76900481 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000012630]|Usher syndrome type 1B [RCV000012631] Chr11:77166162 [GRCh38]
Chr11:76877208 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2662_2670del (p.Lys888_Lys890del) deletion Autosomal dominant nonsyndromic hearing loss 11 [RCV000012632] Chr11:77180443..77180451 [GRCh38]
Chr11:76891489..76891497 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter) single nucleotide variant Usher syndrome type 1B [RCV000012633]|not provided [RCV002512985] Chr11:77172834 [GRCh38]
Chr11:76883880 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665804]|Hearing loss, autosomal recessive [RCV001291462]|Rare genetic deafness [RCV000154341]|Retinitis pigmentosa [RCV000787856]|Usher syndrome type 1B [RCV000012634]|not provided [RCV001226256] Chr11:77142783 [GRCh38]
Chr11:76853829 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002490356]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000669149]|Rare genetic deafness [RCV000151490]|Usher syndrome type 1B [RCV000012635]|not provided [RCV001091731] Chr11:77174816 [GRCh38]
Chr11:76885862 [GRCh37]
Chr11:11q13.5
pathogenic
MYO7A, IVS27AS, G-C, -1 single nucleotide variant Usher syndrome type 1B [RCV000012636] Chr11:11q13.5 pathogenic
NM_000260.4(MYO7A):c.3260T>C (p.Leu1087Pro) single nucleotide variant Usher syndrome type 1 [RCV000012637] Chr11:77182575 [GRCh38]
Chr11:76893620 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000012638]|not provided [RCV001723559] Chr11:77162149 [GRCh38]
Chr11:76873195 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del) microsatellite Autosomal recessive nonsyndromic hearing loss 2 [RCV000012639]|Usher syndrome [RCV003230352] Chr11:77202398..77202400 [GRCh38]
Chr11:76913443..76913445 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000988614]|not provided [RCV000520405] Chr11:77202351 [GRCh38]
Chr11:76913396 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1960C>T (p.Arg654Cys) single nucleotide variant Usher syndrome type 1B [RCV001834688]|not provided [RCV000520307] Chr11:77174780 [GRCh38]
Chr11:76885826 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5197G>A (p.Val1733Ile) single nucleotide variant not provided [RCV000520036] Chr11:77203088 [GRCh38]
Chr11:76914133 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.910G>A (p.Ala304Thr) single nucleotide variant Usher syndrome type 1B [RCV001835836]|not provided [RCV000518960] Chr11:77158337 [GRCh38]
Chr11:76869383 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666645]|Rare genetic deafness [RCV000036037]|not provided [RCV001268216] Chr11:77160179 [GRCh38]
Chr11:76871225 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000765013]|Autosomal dominant nonsyndromic hearing loss 11 [RCV001109645]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109646]|Meniere disease [RCV001526682]|Usher syndrome [RCV001775058]|Usher syndrome type 1 [RCV001109647]|Usher syndrome type 1B [RCV001274696]|not provided [RCV001034270]|not specified [RCV000036038] Chr11:77159450 [GRCh38]
Chr11:76870496 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111946]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665432]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111945]|Retinal dystrophy [RCV001075067]|Usher syndrome type 1 [RCV001111947]|Usher syndrome type 1B [RCV001831624]|not provided [RCV001247583]|not specified [RCV000036039] Chr11:77160214 [GRCh38]
Chr11:76871260 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000668099]|Usher syndrome type 1B [RCV001831625]|not provided [RCV001762113]|not specified [RCV000036040] Chr11:77160215 [GRCh38]
Chr11:76871261 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1133G>C (p.Arg378Pro) single nucleotide variant not specified [RCV000036041] Chr11:77160215 [GRCh38]
Chr11:76871261 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1200+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672265]|Rare genetic deafness [RCV000036042]|not provided [RCV001852737] Chr11:77160283 [GRCh38]
Chr11:76871329 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665699]|Usher syndrome type 1B [RCV001275900]|not provided [RCV001313198]|not specified [RCV000036043] Chr11:77161004 [GRCh38]
Chr11:76872050 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.132+5G>A single nucleotide variant Rare genetic deafness [RCV000036044]|Retinal dystrophy [RCV000225545]|not provided [RCV002513367] Chr11:77142827 [GRCh38]
Chr11:76853873 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.133-7C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000291242]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000383502]|Usher syndrome type 1 [RCV000339300]|Usher syndrome type 1B [RCV001275885]|not provided [RCV000950439]|not specified [RCV000036045] Chr11:77147791 [GRCh38]
Chr11:76858837 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.1343+8G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000395456]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000364367]|Usher syndrome type 1 [RCV000309722]|Usher syndrome type 1B [RCV001275901]|not provided [RCV001510009]|not specified [RCV000036046] Chr11:77161123 [GRCh38]
Chr11:76872169 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.1344-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665311]|Ear malformation [RCV001814023]|Nonsyndromic genetic hearing loss [RCV001544528]|Rare genetic deafness [RCV000036047]|Usher syndrome type 1B [RCV001831626]|not provided [RCV001852738] Chr11:77162118 [GRCh38]
Chr11:76873164 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val) single nucleotide variant Rare genetic deafness [RCV000036048]|not provided [RCV002513368] Chr11:77162146 [GRCh38]
Chr11:76873192 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000675070]|Usher syndrome type 1B [RCV001831627]|not provided [RCV001315656]|not specified [RCV000036049] Chr11:77162176..77162177 [GRCh38]
Chr11:76873222..76873223 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.141G>A (p.Trp47Ter) single nucleotide variant Rare genetic deafness [RCV000036050] Chr11:77147806 [GRCh38]
Chr11:76858852 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1422G>A (p.Gln474=) single nucleotide variant not provided [RCV000923601]|not specified [RCV000036051] Chr11:77162198 [GRCh38]
Chr11:76873244 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1455G>A (p.Leu485=) single nucleotide variant not provided [RCV001467280]|not specified [RCV000036052] Chr11:77162231 [GRCh38]
Chr11:76873277 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669217]|not provided [RCV001367505]|not specified [RCV000036053] Chr11:77162272 [GRCh38]
Chr11:76873318 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1554+8G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112498]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112497]|Usher syndrome type 1 [RCV001112496]|Usher syndrome type 1B [RCV001276677]|not provided [RCV000724629]|not specified [RCV000036054] Chr11:77162338 [GRCh38]
Chr11:76873384 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001262910]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000669343]|Rare genetic deafness [RCV000844714]|Usher syndrome type 1 [RCV000036055]|Usher syndrome type 1B [RCV001831628]|not provided [RCV000817879] Chr11:77162854 [GRCh38]
Chr11:76873900 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|not provided
NM_000260.3(MYO7A):c.1556delG deletion Rare genetic deafness [RCV000036056] Chr11:77162852 [GRCh38]
Chr11:76873898 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000283451]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000347843]|Usher syndrome type 1 [RCV000402432]|Usher syndrome type 1B [RCV001272492]|not provided [RCV000886630]|not specified [RCV000036057] Chr11:77162903 [GRCh38]
Chr11:76873949 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr) single nucleotide variant not provided [RCV001049904]|not specified [RCV000036058] Chr11:77162904 [GRCh38]
Chr11:76873950 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1690+1G>A single nucleotide variant Rare genetic deafness [RCV000036059]|not provided [RCV001227530] Chr11:77162989 [GRCh38]
Chr11:76874035 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673827]|not specified [RCV000036060] Chr11:77166086 [GRCh38]
Chr11:76877132 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1821G>A (p.Ser607=) single nucleotide variant not provided [RCV000880634]|not specified [RCV000036061] Chr11:77172771 [GRCh38]
Chr11:76883817 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672717]|Usher syndrome type 1B [RCV001831629]|not specified [RCV000036062] Chr11:77147847 [GRCh38]
Chr11:76858893 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer) duplication Rare genetic deafness [RCV000036063] Chr11:77172782..77172783 [GRCh38]
Chr11:76883828..76883829 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002490492]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665882]|MYO7A-related condition [RCV003415766]|Usher syndrome type 1B [RCV001826541]|not provided [RCV001060312]|not specified [RCV000036064] Chr11:77172796 [GRCh38]
Chr11:76883842 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000378842]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000265173]|Usher syndrome type 1 [RCV000324225]|not provided [RCV000882335]|not specified [RCV000036065] Chr11:77172804 [GRCh38]
Chr11:76883850 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000664583]|Usher syndrome type 1B [RCV001276681]|not provided [RCV000933794]|not specified [RCV000036066] Chr11:77172818 [GRCh38]
Chr11:76883864 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.19-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666110]|Rare genetic deafness [RCV000036067]|not provided [RCV001852739] Chr11:77142708 [GRCh38]
Chr11:76853754 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000763275]|Rare genetic deafness [RCV000844715]|Usher syndrome type 1 [RCV000036068]|Usher syndrome type 1B [RCV001272497]|not provided [RCV001238560] Chr11:77172850 [GRCh38]
Chr11:76883896 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) insertion Rare genetic deafness [RCV000036069] Chr11:77174772..77174773 [GRCh38]
Chr11:76885818..76885819 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670890]|not provided [RCV001405305]|not specified [RCV000036070] Chr11:77174776 [GRCh38]
Chr11:76885822 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter) single nucleotide variant Rare genetic deafness [RCV000036071]|not provided [RCV001049833] Chr11:77174783 [GRCh38]
Chr11:76885829 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) single nucleotide variant Usher syndrome type 1 [RCV001810407]|not provided [RCV000489211]|not specified [RCV000036072] Chr11:77174822 [GRCh38]
Chr11:76885868 [GRCh37]
Chr11:11q13.5
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000763277]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000409801]|MYO7A-related condition [RCV003390726]|Rare genetic deafness [RCV000844716]|Usher syndrome [RCV000504864]|Usher syndrome type 1 [RCV000036073]|Usher syndrome type 1B [RCV001272498]|not provided [RCV000443077] Chr11:77174825 [GRCh38]
Chr11:76885871 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000320261]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002504882]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000289903]|Usher syndrome type 1 [RCV000384251]|Usher syndrome type 1B [RCV001272499]|not provided [RCV000968680]|not specified [RCV000036074] Chr11:77174855 [GRCh38]
Chr11:76885901 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.2094+1G>A single nucleotide variant Rare genetic deafness [RCV000036075]|not provided [RCV001852740] Chr11:77174915 [GRCh38]
Chr11:76885961 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2094+1G>C single nucleotide variant Rare genetic deafness [RCV000036076] Chr11:77174915 [GRCh38]
Chr11:76885961 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578680]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665188]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578681]|Usher syndrome type 1 [RCV001526753]|not provided [RCV001288311]|not specified [RCV000036077] Chr11:77175399 [GRCh38]
Chr11:76886445 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2172del (p.Lys725fs) deletion Rare genetic deafness [RCV000036078]|not provided [RCV001852741] Chr11:77175448 [GRCh38]
Chr11:76886494 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2187+1G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002477079]|Rare genetic deafness [RCV000036079]|Usher syndrome type 1 [RCV001003084]|not provided [RCV000519124] Chr11:77175465 [GRCh38]
Chr11:76886511 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112681]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666826]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112680]|Usher syndrome type 1 [RCV001112682]|Usher syndrome type 1B [RCV001276686]|not provided [RCV001852742]|not specified [RCV000036080] Chr11:77177579 [GRCh38]
Chr11:76888625 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112684]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112683]|Usher syndrome type 1 [RCV001112685]|Usher syndrome type 1B [RCV001276687]|not provided [RCV000954644]|not specified [RCV000036081] Chr11:77177597 [GRCh38]
Chr11:76888643 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.2283-1G>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001329739]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666504]|Rare genetic deafness [RCV000844717]|Usher syndrome type 1 [RCV000036082]|Usher syndrome type 1B [RCV001831630]|not provided [RCV001383209] Chr11:77179044 [GRCh38]
Chr11:76890090 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000359683]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000264923]|Usher syndrome type 1 [RCV000329331]|not provided [RCV001041319]|not specified [RCV000036083] Chr11:77179045 [GRCh38]
Chr11:76890091 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000270954]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000326027]|Usher syndrome type 1 [RCV000383860]|Usher syndrome type 1B [RCV001276689]|not provided [RCV000727020]|not specified [RCV000036084] Chr11:77179055 [GRCh38]
Chr11:76890101 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669947]|not specified [RCV000036085] Chr11:77179753 [GRCh38]
Chr11:76890799 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665257]|Usher syndrome type 1B [RCV001826542]|not provided [RCV001296514]|not specified [RCV000036086] Chr11:77179754 [GRCh38]
Chr11:76890800 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000286068]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000343328]|Usher syndrome type 1 [RCV000404583]|Usher syndrome type 1B [RCV001831631]|not provided [RCV000904369]|not specified [RCV000036087] Chr11:77179814 [GRCh38]
Chr11:76890860 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000668293]|Usher syndrome type 1B [RCV001272506]|not specified [RCV000036088] Chr11:77179889 [GRCh38]
Chr11:76890935 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000274914]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002490493]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000367440]|Usher syndrome [RCV001171529]|Usher syndrome type 1 [RCV000318308]|Usher syndrome type 1B [RCV001835641]|not provided [RCV000658008]|not specified [RCV000036089] Chr11:77179894 [GRCh38]
Chr11:76890940 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000765015]|Autosomal dominant nonsyndromic hearing loss 11 [RCV000791456]|MYO7A-related condition [RCV003407402]|Nonsyndromic genetic hearing loss [RCV001004783]|not provided [RCV000724679]|not specified [RCV000036090] Chr11:77179925 [GRCh38]
Chr11:76890971 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114121]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988606]|Meniere disease [RCV001526685]|Usher syndrome type 1 [RCV001110090]|Usher syndrome type 1B [RCV001276694]|not provided [RCV000724180]|not specified [RCV000036091] Chr11:77180404 [GRCh38]
Chr11:76891450 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000307822]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000403903]|Usher syndrome type 1 [RCV000369469]|Usher syndrome type 1B [RCV001272508]|not provided [RCV000959204]|not specified [RCV000036092] Chr11:77181439 [GRCh38]
Chr11:76892485 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000375210]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002482970]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000317296]|Inborn genetic diseases [RCV002513369]|Usher syndrome type 1 [RCV000278350]|Usher syndrome type 1B [RCV001835642]|not provided [RCV001056783]|not specified [RCV000036093] Chr11:77180405 [GRCh38]
Chr11:76891451 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669314]|not provided [RCV001409593]|not specified [RCV000036094] Chr11:77181409 [GRCh38]
Chr11:76892455 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667296]|not provided [RCV002513370]|not specified [RCV000036095] Chr11:77181535 [GRCh38]
Chr11:76892581 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.286-5C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000287286]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000373703]|Usher syndrome type 1 [RCV000335289]|Usher syndrome type 1B [RCV001275887]|not provided [RCV000947368]|not specified [RCV000036096] Chr11:77155902 [GRCh38]
Chr11:76866948 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000354842]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000316472]|Usher syndrome type 1 [RCV000263497]|Usher syndrome type 1B [RCV001831632]|not provided [RCV001041392]|not specified [RCV000036097] Chr11:77181567 [GRCh38]
Chr11:76892613 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114199]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114201]|Hearing impairment [RCV001375324]|Usher syndrome type 1 [RCV001114200]|not provided [RCV000585012]|not specified [RCV000036098] Chr11:77181571 [GRCh38]
Chr11:76892617 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000281522]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404037]|Usher syndrome type 1 [RCV000338664]|Usher syndrome type 1B [RCV001275888]|not provided [RCV000992403]|not specified [RCV000036099] Chr11:77155909 [GRCh38]
Chr11:76866955 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001580451]|Rare genetic deafness [RCV000036100]|Usher syndrome type 1B [RCV003114213]|not provided [RCV000414534] Chr11:77181589 [GRCh38]
Chr11:76892635 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673709]|not specified [RCV000036101] Chr11:77182006 [GRCh38]
Chr11:76893052 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3036A>G (p.Thr1012=) single nucleotide variant not provided [RCV001474430]|not specified [RCV000036102] Chr11:77182082 [GRCh38]
Chr11:76893128 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000385063]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000284666]|Usher syndrome type 1 [RCV000328258]|Usher syndrome type 1B [RCV001826543]|not provided [RCV000956980]|not specified [RCV000036103] Chr11:77182088 [GRCh38]
Chr11:76893134 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000349362]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000402994]|Usher syndrome type 1 [RCV000296667]|Usher syndrome type 1B [RCV001831633]|not provided [RCV000879767]|not specified [RCV000036104] Chr11:77182561 [GRCh38]
Chr11:76893606 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000272285]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000364445]|Nonsyndromic genetic hearing loss [RCV000710345]|Usher syndrome type 1 [RCV000307547]|Usher syndrome type 1B [RCV001826544]|not provided [RCV000879348]|not specified [RCV000036105] Chr11:77155945 [GRCh38]
Chr11:76866991 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3327del (p.His1109fs) deletion Rare genetic deafness [RCV000036106] Chr11:77183109 [GRCh38]
Chr11:76894154 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3375+3G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000268456]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000299071]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000668917]|Usher syndrome type 1 [RCV000360825]|Usher syndrome type 1B [RCV001272510]|not provided [RCV002513371]|not specified [RCV000036107] Chr11:77183160 [GRCh38]
Chr11:76894205 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val) single nucleotide variant not provided [RCV003105779]|not specified [RCV000036108] Chr11:77184681 [GRCh38]
Chr11:76895726 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) single nucleotide variant Usher syndrome type 1B [RCV001271745]|not provided [RCV000725729]|not specified [RCV000036109] Chr11:77184616 [GRCh38]
Chr11:76895661 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002496550]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000664879]|Hearing loss [RCV001270103]|Rare genetic deafness [RCV000036110]|Retinal dystrophy [RCV001073977]|Usher syndrome type 1B [RCV001272512]|not provided [RCV000312187] Chr11:77184688 [GRCh38]
Chr11:76895733 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3503+12_3503+33del deletion Autosomal dominant nonsyndromic hearing loss 11 [RCV002504883]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988608]|Nonsyndromic genetic hearing loss [RCV000710330]|Usher syndrome type 1B [RCV001831634]|not provided [RCV001510010]|not specified [RCV000036111] Chr11:77184726..77184747 [GRCh38]
Chr11:76895772..76895793 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000763278]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000664470]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988609]|Hearing loss, autosomal recessive [RCV001291476]|Rare genetic deafness [RCV000036112]|Retinal dystrophy [RCV001075104]|Usher syndrome type 1B [RCV001826545]|not provided [RCV001385688] Chr11:77189348 [GRCh38]
Chr11:76900393 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs) deletion Rare genetic deafness [RCV000036113]|not provided [RCV001852743] Chr11:77189372 [GRCh38]
Chr11:76900417 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro) single nucleotide variant Rare genetic deafness [RCV000036114] Chr11:77189373 [GRCh38]
Chr11:76900418 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs) microsatellite Rare genetic deafness [RCV000036115]|not provided [RCV001219969] Chr11:77189380..77189381 [GRCh38]
Chr11:76900425..76900426 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3572G>A (p.Gly1191Asp) single nucleotide variant Rare genetic deafness [RCV000036116] Chr11:77189412 [GRCh38]
Chr11:76900457 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665697]|Usher syndrome type 1B [RCV001831635]|not provided [RCV000756411]|not specified [RCV000036117] Chr11:77155979 [GRCh38]
Chr11:76867025 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001196537]|Usher syndrome type 1B [RCV001275889]|not provided [RCV001785454]|not specified [RCV000036118] Chr11:77155980 [GRCh38]
Chr11:76867026 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001002751]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665509]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111010]|Usher syndrome type 1 [RCV001111011]|not provided [RCV000937221]|not specified [RCV000036119] Chr11:77189442 [GRCh38]
Chr11:76900487 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg) single nucleotide variant Usher syndrome [RCV003230377]|not provided [RCV001852744]|not specified [RCV000036120] Chr11:77190041 [GRCh38]
Chr11:76901086 [GRCh37]
Chr11:11q13.5
pathogenic|uncertain significance
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs) deletion Rare genetic deafness [RCV000036121]|Usher syndrome type 1B [RCV001826546]|not provided [RCV001852745] Chr11:77190084..77190094 [GRCh38]
Chr11:76901130..76901140 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000763279]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000984006]|Inborn genetic diseases [RCV000623302]|MYO7A-Related Disorders [RCV000778342]|MYO7A-related condition [RCV003390727]|Retinal dystrophy [RCV001075882]|Usher syndrome [RCV000504703]|Usher syndrome type 1 [RCV000036122]|Usher syndrome type 1B [RCV001272514]|not provided [RCV000256123] Chr11:77190108 [GRCh38]
Chr11:76901153 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000260.4(MYO7A):c.3750+5G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000660456]|Usher syndrome type 1B [RCV001271748]|not provided [RCV000728067]|not specified [RCV000036124] Chr11:77190144 [GRCh38]
Chr11:76901189 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3750+7G>A single nucleotide variant Usher syndrome type 1B [RCV001271749]|not provided [RCV000726843]|not specified [RCV000036125] Chr11:77190146 [GRCh38]
Chr11:76901191 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3750+9G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000332524]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000292943]|Usher syndrome type 1 [RCV000389407]|Usher syndrome type 1B [RCV001271750]|not provided [RCV000724300]|not specified [RCV000036126] Chr11:77190148 [GRCh38]
Chr11:76901193 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) deletion Autosomal dominant nonsyndromic hearing loss 11 [RCV002496551]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000412422]|Rare genetic deafness [RCV000844720]|Usher syndrome [RCV000505077]|Usher syndrome type 1 [RCV000036127]|Usher syndrome type 1B [RCV001835643]|not provided [RCV001785455] Chr11:77190709 [GRCh38]
Chr11:76901754 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000324036]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000267119]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665330]|Usher syndrome type 1 [RCV000371726]|not provided [RCV001034155]|not specified [RCV000036128] Chr11:77156001 [GRCh38]
Chr11:76867047 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000375278]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000278460]|Usher syndrome type 1 [RCV000350138]|Usher syndrome type 1B [RCV001273493]|not provided [RCV000959205]|not specified [RCV000036129] Chr11:77190774 [GRCh38]
Chr11:76901819 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.3924+12C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000339373]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000309114]|Usher syndrome type 1 [RCV000406084]|not provided [RCV001519505]|not specified [RCV000036130] Chr11:77190882 [GRCh38]
Chr11:76901927 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114464]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113089]|Usher syndrome type 1 [RCV001114465]|not provided [RCV000761794]|not specified [RCV000036131] Chr11:77192104 [GRCh38]
Chr11:76903149 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002482971]|Rare genetic deafness [RCV000036132]|not provided [RCV001852746] Chr11:77156018 [GRCh38]
Chr11:76867064 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673536]|MYO7A-Related Disorders [RCV001249698]|Rare genetic deafness [RCV000036134]|Retinal dystrophy [RCV001074683]|Usher syndrome [RCV001775073]|not provided [RCV001231996] Chr11:77156022 [GRCh38]
Chr11:76867068 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000307896]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000365602]|Usher syndrome type 1 [RCV000269187]|Usher syndrome type 1B [RCV001273496]|not provided [RCV000956981]|not specified [RCV000036135] Chr11:77192149 [GRCh38]
Chr11:76903194 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.4065del (p.His1355fs) deletion Rare genetic deafness [RCV000036136] Chr11:77192191 [GRCh38]
Chr11:76903236 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000386752]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000261940]|Cohen syndrome [RCV001449923]|Usher syndrome type 1 [RCV000319840]|Usher syndrome type 1B [RCV001273497]|not provided [RCV000963474]|not specified [RCV000036137] Chr11:77192200 [GRCh38]
Chr11:76903245 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.4153-10C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667318]|not provided [RCV001359554]|not specified [RCV000036138] Chr11:77194344 [GRCh38]
Chr11:76905389 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4251C>T (p.Ile1417=) single nucleotide variant not provided [RCV002513372]|not specified [RCV000036139] Chr11:77194452 [GRCh38]
Chr11:76905497 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) single nucleotide variant Rare genetic deafness [RCV000036140]|Retinal dystrophy [RCV001075167]|Usher syndrome type 1B [RCV001835644]|not provided [RCV001852747] Chr11:77194494 [GRCh38]
Chr11:76905539 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666151]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988612]|not provided [RCV001244369]|not specified [RCV000036141] Chr11:77197517 [GRCh38]
Chr11:76908562 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.440G>A (p.Arg147His) single nucleotide variant Usher syndrome type 1B [RCV001826547]|not provided [RCV002513373]|not specified [RCV000036142] Chr11:77156061 [GRCh38]
Chr11:76867107 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) single nucleotide variant Rare genetic deafness [RCV000036143]|not provided [RCV001852748] Chr11:77197568 [GRCh38]
Chr11:76908613 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4442-2A>C single nucleotide variant Rare genetic deafness [RCV000036144]|not provided [RCV001379547] Chr11:77198493 [GRCh38]
Chr11:76909538 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113191]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113192]|Usher syndrome type 1 [RCV000778344]|Usher syndrome type 1B [RCV001273499]|not provided [RCV001239874]|not specified [RCV000036145] Chr11:77198503 [GRCh38]
Chr11:76909548 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000344591]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000391381]|Usher syndrome type 1 [RCV000291934]|Usher syndrome type 1B [RCV001273500]|not provided [RCV000959206]|not specified [RCV000036146] Chr11:77198514 [GRCh38]
Chr11:76909559 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met) single nucleotide variant Usher syndrome type 1B [RCV001826548]|not provided [RCV001241478]|not specified [RCV000036147] Chr11:77198524 [GRCh38]
Chr11:76909569 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000765012]|Autosomal dominant nonsyndromic hearing loss 11 [RCV001109456]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109455]|Usher syndrome type 1 [RCV001109457]|Usher syndrome type 1B [RCV001275891]|not provided [RCV001241133]|not specified [RCV000036149] Chr11:77156070 [GRCh38]
Chr11:76867116 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) indel Rare genetic deafness [RCV000036150]|not provided [RCV000725794] Chr11:77198597..77198604 [GRCh38]
Chr11:76909642..76909649 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.4568+12C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000314200]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000403942]|Usher syndrome type 1 [RCV000371272]|not provided [RCV001519649]|not specified [RCV000036151] Chr11:77198633 [GRCh38]
Chr11:76909678 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001108927]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001108929]|Usher syndrome type 1 [RCV001108928]|Usher syndrome type 1B [RCV001831636]|not provided [RCV002513374]|not specified [RCV000036152] Chr11:77199543 [GRCh38]
Chr11:76910588 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000313203]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000356336]|Usher syndrome type 1 [RCV000404653]|Usher syndrome type 1B [RCV001273501]|not provided [RCV000992404]|not specified [RCV000036153] Chr11:77199555 [GRCh38]
Chr11:76910600 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.458G>A (p.Cys153Tyr) single nucleotide variant Rare genetic deafness [RCV000036154] Chr11:77156079 [GRCh38]
Chr11:76867125 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578682]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578683]|Usher syndrome type 1 [RCV001526433]|not provided [RCV000926624]|not specified [RCV000036155] Chr11:77199585 [GRCh38]
Chr11:76910630 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000263890]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000319034]|Usher syndrome type 1 [RCV000359709]|not provided [RCV000967226]|not specified [RCV000036156] Chr11:77199586 [GRCh38]
Chr11:76910631 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000291648]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000322187]|Usher syndrome type 1 [RCV000376766]|Usher syndrome type 1B [RCV001275892]|not provided [RCV000712351]|not specified [RCV000036157] Chr11:77156089 [GRCh38]
Chr11:76867135 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.4695G>A (p.Thr1565=) single nucleotide variant not provided [RCV001476862]|not specified [RCV000036158] Chr11:77199661 [GRCh38]
Chr11:76910706 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000325844]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000384892]|Usher syndrome type 1 [RCV000677317]|Usher syndrome type 1B [RCV001826549]|not provided [RCV000950207]|not specified [RCV000036159] Chr11:77199663 [GRCh38]
Chr11:76910708 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000350236]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000290552]|Usher syndrome type 1 [RCV000393918]|Usher syndrome type 1B [RCV001831637]|not provided [RCV000879068]|not specified [RCV000036160] Chr11:77199664 [GRCh38]
Chr11:76910709 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109030]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114663]|Hearing impairment [RCV001375116]|Usher syndrome type 1 [RCV001114664]|Usher syndrome type 1B [RCV001271766]|not provided [RCV001246336]|not specified [RCV000036161] Chr11:77199705 [GRCh38]
Chr11:76910750 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000351371]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000296516]|Usher syndrome type 1 [RCV000403200]|Usher syndrome type 1B [RCV001273502]|not provided [RCV001510011]|not specified [RCV000036162] Chr11:77199721 [GRCh38]
Chr11:76910766 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000261128]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000353260]|Usher syndrome type 1 [RCV000677332]|Usher syndrome type 1B [RCV001275883]|not provided [RCV000132571]|not specified [RCV000036163] Chr11:77142737 [GRCh38]
Chr11:76853783 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.4800G>T (p.Gly1600=) single nucleotide variant not provided [RCV000902990]|not specified [RCV000036164] Chr11:77199766 [GRCh38]
Chr11:76910811 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111380]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002496552]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109034]|Usher syndrome type 1 [RCV000223626]|Usher syndrome type 1B [RCV001272799]|not provided [RCV000132572]|not specified [RCV000036165] Chr11:77199771 [GRCh38]
Chr11:76910816 [GRCh37]
Chr11:11q13.5
pathogenic|benign|likely benign
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670662]|Rare genetic deafness [RCV000036166]|not provided [RCV001201930] Chr11:77199787 [GRCh38]
Chr11:76910832 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000668896]|Usher syndrome type 1B [RCV001826550]|not provided [RCV001762114]|not specified [RCV000036167] Chr11:77156673 [GRCh38]
Chr11:76867719 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4910A>G (p.His1637Arg) single nucleotide variant Usher syndrome type 1B [RCV001831638]|not specified [RCV000036168] Chr11:77201505 [GRCh38]
Chr11:76912550 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666360]|Rare genetic deafness [RCV000036169]|Usher syndrome type 1B [RCV001826551]|not provided [RCV000434773] Chr11:77156683 [GRCh38]
Chr11:76867729 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000328945]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000363792]|Usher syndrome type 1 [RCV000268680]|Usher syndrome type 1B [RCV001273503]|not provided [RCV000965212]|not specified [RCV000036170] Chr11:77201545 [GRCh38]
Chr11:76912590 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.496del (p.Glu166fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV001837445]|Hearing loss, autosomal recessive [RCV001291465]|Rare genetic deafness [RCV000036171]|not provided [RCV001390812] Chr11:77156684 [GRCh38]
Chr11:76867730 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000664868]|Usher syndrome type 1B [RCV001273504]|not provided [RCV000917460]|not specified [RCV000036172] Chr11:77201578 [GRCh38]
Chr11:76912623 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000274957]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000330070]|Usher syndrome type 1 [RCV000383514]|Usher syndrome type 1B [RCV001835645]|not provided [RCV000904370]|not specified [RCV000036173] Chr11:77201587 [GRCh38]
Chr11:76912632 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000335830]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000294774]|Usher syndrome type 1 [RCV000389186]|Usher syndrome type 1B [RCV001273505]|not provided [RCV001512276]|not specified [RCV000036174] Chr11:77201591 [GRCh38]
Chr11:76912636 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673155]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001807757]|Rare genetic deafness [RCV000036175]|Retinal dystrophy [RCV001074879]|not provided [RCV001852749] Chr11:77202357 [GRCh38]
Chr11:76913402 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000366371]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404997]|MYO7A-Related Disorders [RCV003330409]|Usher syndrome type 1 [RCV000306975]|Usher syndrome type 1B [RCV001272803]|not provided [RCV000724217]|not specified [RCV000036176] Chr11:77202364 [GRCh38]
Chr11:76913409 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111775]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111776]|Usher syndrome type 1 [RCV001111777]|Usher syndrome type 1B [RCV001831639]|not provided [RCV000839307]|not specified [RCV000036177] Chr11:77156699 [GRCh38]
Chr11:76867745 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5115C>T (p.Pro1705=) single nucleotide variant not provided [RCV000910504]|not specified [RCV000036178] Chr11:77202371 [GRCh38]
Chr11:76913416 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000271936]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002496553]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000367756]|Usher syndrome type 1 [RCV000677322]|Usher syndrome type 1B [RCV001273508]|not provided [RCV000755320]|not specified [RCV000036179] Chr11:77202412 [GRCh38]
Chr11:76913457 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000285062]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000380573]|Usher syndrome type 1 [RCV000339967]|Usher syndrome type 1B [RCV001831640]|not provided [RCV000224828]|not specified [RCV000036181] Chr11:77203106 [GRCh38]
Chr11:76914151 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5259G>A (p.Lys1753=) single nucleotide variant not provided [RCV000712352]|not specified [RCV000036182] Chr11:77203150 [GRCh38]
Chr11:76914195 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000391447]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988615]|Usher syndrome type 1 [RCV000286019]|Usher syndrome type 1B [RCV001272808]|not provided [RCV000723623]|not specified [RCV000036183] Chr11:77203118 [GRCh38]
Chr11:76914163 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5326+13C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000370834]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404613]|Usher syndrome type 1 [RCV000311530]|not provided [RCV001509717]|not specified [RCV000036184] Chr11:77203230 [GRCh38]
Chr11:76914275 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5327-11A>G single nucleotide variant Rare genetic deafness [RCV000036185] Chr11:77204065 [GRCh38]
Chr11:76915110 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002490494]|not provided [RCV001427485]|not specified [RCV000036186] Chr11:77204104 [GRCh38]
Chr11:76915149 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669320]|Rare genetic deafness [RCV000036187]|Retinal dystrophy [RCV001074754]|Usher syndrome type 1B [RCV001273512]|not provided [RCV000413379] Chr11:77204141 [GRCh38]
Chr11:76915186 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5481-14G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000267858]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000357815]|Usher syndrome type 1 [RCV000321752]|not provided [RCV001520332]|not specified [RCV000036188] Chr11:77205448 [GRCh38]
Chr11:76916493 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.5487C>T (p.Ser1829=) single nucleotide variant not provided [RCV000658620]|not specified [RCV000036189] Chr11:77205468 [GRCh38]
Chr11:76916513 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg) single nucleotide variant Inborn genetic diseases [RCV003162312]|Usher syndrome type 1B [RCV001273513]|not specified [RCV000036190] Chr11:77205509 [GRCh38]
Chr11:76916554 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000664543]|not provided [RCV000906706]|not specified [RCV000036191] Chr11:77205540 [GRCh38]
Chr11:76916585 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114999]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109355]|Usher syndrome type 1 [RCV001114998]|not provided [RCV000828195]|not specified [RCV000036192] Chr11:77205579 [GRCh38]
Chr11:76916624 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000763283]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000668342]|MYO7A-Related Disorders [RCV000779082]|MYO7A-related condition [RCV003407403]|Rare genetic deafness [RCV000036193]|Usher syndrome type 1B [RCV001273514]|not provided [RCV001268401] Chr11:77205554 [GRCh38]
Chr11:76916599 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000322968]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000382284]|Usher syndrome type 1 [RCV000287528]|Usher syndrome type 1B [RCV001826552]|not provided [RCV000956982]|not specified [RCV000036195] Chr11:77205579 [GRCh38]
Chr11:76916624 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000668897]|Rare genetic deafness [RCV000036196]|Usher syndrome [RCV003323370]|Usher syndrome type 1B [RCV001826553]|not provided [RCV001069199] Chr11:77205598 [GRCh38]
Chr11:76916643 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002504884]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000672711]|Rare genetic deafness [RCV000036197]|Usher syndrome [RCV001089676]|not provided [RCV000594226] Chr11:77205599 [GRCh38]
Chr11:76916644 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000383003]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000293847]|Usher syndrome type 1 [RCV000328473]|Usher syndrome type 1B [RCV001273515]|not provided [RCV001518734]|not specified [RCV000036198] Chr11:77205600 [GRCh38]
Chr11:76916645 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000983988]|Rare genetic deafness [RCV000844722]|Usher syndrome type 1 [RCV000036199]|Usher syndrome type 1B [RCV001273516]|not provided [RCV000413954] Chr11:77206108 [GRCh38]
Chr11:76917153 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669133]|Hearing loss, autosomal recessive [RCV001291104]|Rare genetic deafness [RCV000036200]|Usher syndrome type 1 [RCV001376326]|not provided [RCV001223334] Chr11:77206120 [GRCh38]
Chr11:76917165 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000326880]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000361573]|Usher syndrome type 1 [RCV000266939]|Usher syndrome type 1B [RCV001275523]|not provided [RCV001512277]|not specified [RCV000036201] Chr11:77206175 [GRCh38]
Chr11:76917220 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5743-12T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000273031]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000328089]|Usher syndrome type 1 [RCV000362954]|not provided [RCV001519506]|not specified [RCV000036202] Chr11:77207277 [GRCh38]
Chr11:76918322 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000675068]|Rare genetic deafness [RCV000036203]|Retinal dystrophy [RCV001074201]|Usher syndrome [RCV001252670]|not provided [RCV002513375] Chr11:77207350 [GRCh38]
Chr11:76918395 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000671433]|MYO7A-Related Disorders [RCV001095699]|Usher syndrome [RCV003389444]|Usher syndrome type 1B [RCV001826554]|not provided [RCV001531119]|not specified [RCV000036204] Chr11:77207370 [GRCh38]
Chr11:76918415 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) single nucleotide variant MYO7A-Related Disorders [RCV000388623]|Rare genetic deafness [RCV000036205]|Usher syndrome type 1 [RCV000665920]|Usher syndrome type 1B [RCV001831641]|not provided [RCV001204875] Chr11:77207370 [GRCh38]
Chr11:76918415 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.582del (p.Ile195fs) deletion Rare genetic deafness [RCV000036206] Chr11:77156767 [GRCh38]
Chr11:76867813 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000406804]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000278156]|Usher syndrome type 1 [RCV000335511]|Usher syndrome type 1B [RCV001275524]|not provided [RCV000879812]|not specified [RCV000036207] Chr11:77207381 [GRCh38]
Chr11:76918426 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5857-7A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000306203]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404086]|Usher syndrome type 1 [RCV000344672]|Usher syndrome type 1B [RCV001275525]|not provided [RCV001512278]|not specified [RCV000036208] Chr11:77208423 [GRCh38]
Chr11:76919468 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000309473]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988616]|Usher syndrome type 1 [RCV000366542]|Usher syndrome type 1B [RCV001275527]|not provided [RCV001512279]|not specified [RCV000036209] Chr11:77208433 [GRCh38]
Chr11:76919478 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000312785]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000369786]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000669735]|Usher syndrome type 1 [RCV000277461]|Usher syndrome type 1B [RCV001831642]|not provided [RCV000963284]|not specified [RCV000036210] Chr11:77208439 [GRCh38]
Chr11:76919484 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro) single nucleotide variant Rare genetic deafness [RCV000036211] Chr11:77156776 [GRCh38]
Chr11:76867822 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.593-5C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000354554]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000305167]|Usher syndrome type 1 [RCV000396780]|Usher syndrome type 1B [RCV001275894]|not provided [RCV000992405]|not specified [RCV000036212] Chr11:77156857 [GRCh38]
Chr11:76867903 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) microsatellite Autosomal recessive nonsyndromic hearing loss 2 [RCV003326334]|Rare genetic deafness [RCV000036213]|Usher syndrome type 1 [RCV001376327]|Usher syndrome type 1B [RCV001831643]|not provided [RCV001064922] Chr11:77208453..77208455 [GRCh38]
Chr11:76919498..76919500 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000341592]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000284213]|Usher syndrome type 1 [RCV000376857]|Usher syndrome type 1B [RCV001272817]|not provided [RCV000898379]|not specified [RCV000036214] Chr11:77208477 [GRCh38]
Chr11:76919522 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.5945G>A (p.Gly1982Glu) single nucleotide variant Rare genetic deafness [RCV000036215] Chr11:77208697 [GRCh38]
Chr11:76919742 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001334339]|not provided [RCV000916924]|not specified [RCV000036216] Chr11:77208765 [GRCh38]
Chr11:76919810 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr) single nucleotide variant not provided [RCV001362557]|not specified [RCV000036217] Chr11:77208777 [GRCh38]
Chr11:76919822 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) deletion Autosomal dominant nonsyndromic hearing loss 11 [RCV002477080]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000984197]|Rare genetic deafness [RCV000844724]|Retinal dystrophy [RCV001075853]|Usher syndrome type 1 [RCV000036218]|Usher syndrome type 1B [RCV001275528]|not provided [RCV001046525] Chr11:77208776 [GRCh38]
Chr11:76919821 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6029A>G (p.Asp2010Gly) single nucleotide variant Rare genetic deafness [RCV000036219] Chr11:77208781 [GRCh38]
Chr11:76919826 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6051+17T>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533374]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533375]|Usher syndrome type 1 [RCV001533376]|not provided [RCV001513065]|not specified [RCV000036220] Chr11:77208820 [GRCh38]
Chr11:76919865 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6052-11G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000405948]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000313677]|Usher syndrome type 1 [RCV000370790]|not provided [RCV001519572]|not specified [RCV000036221] Chr11:77211141 [GRCh38]
Chr11:76922186 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000298298]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000355553]|Usher syndrome type 1 [RCV000259772]|Usher syndrome type 1B [RCV001275530]|not provided [RCV000992406]|not specified [RCV000036222] Chr11:77211163 [GRCh38]
Chr11:76922208 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002496554]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665987]|Rare genetic deafness [RCV000844725]|Usher syndrome type 1 [RCV000036223]|not provided [RCV001210670] Chr11:77211170 [GRCh38]
Chr11:76922215 [GRCh37]
Chr11:11q13.5
pathogenic|not provided
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) single nucleotide variant Usher syndrome type 1B [RCV001272821]|not provided [RCV000726540]|not specified [RCV000036224] Chr11:77211265 [GRCh38]
Chr11:76922310 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.6173A>G (p.Lys2058Arg) single nucleotide variant not provided [RCV001852750]|not specified [RCV000036225] Chr11:77211273 [GRCh38]
Chr11:76922318 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln) single nucleotide variant Usher syndrome type 1B [RCV001831644]|not provided [RCV001038973]|not specified [RCV000036226] Chr11:77211309 [GRCh38]
Chr11:76922354 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000320711]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000263244]|Usher syndrome type 1 [RCV000379059]|not provided [RCV000515066]|not specified [RCV000036227] Chr11:77211314 [GRCh38]
Chr11:76922359 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000325505]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000268189]|Usher syndrome type 1 [RCV000382464]|Usher syndrome type 1B [RCV001275534]|not provided [RCV000992407]|not specified [RCV000036228] Chr11:77211823 [GRCh38]
Chr11:76922868 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000393809]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000294154]|Usher syndrome type 1 [RCV000351446]|Usher syndrome type 1B [RCV001275535]|not provided [RCV001512280]|not specified [RCV000036229] Chr11:77211901 [GRCh38]
Chr11:76922946 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002496555]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000675104]|Retinal dystrophy [RCV001073506]|Usher syndrome [RCV000036230]|Usher syndrome type 1B [RCV001275896]|not provided [RCV001852751] Chr11:77156900 [GRCh38]
Chr11:76867946 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000668733]|not provided [RCV001465033]|not specified [RCV000036231] Chr11:77211928 [GRCh38]
Chr11:76922973 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000515404]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000667735]|Rare genetic deafness [RCV000036233]|Usher syndrome [RCV003389445]|Usher syndrome type 1 [RCV001003080]|Usher syndrome type 1B [RCV001835646]|not provided [RCV000724325] Chr11:77156909 [GRCh38]
Chr11:76867955 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000278212]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000335582]|Usher syndrome type 1 [RCV000393795]|Usher syndrome type 1B [RCV001275536]|not provided [RCV001512228]|not specified [RCV000036234] Chr11:77213021 [GRCh38]
Chr11:76924066 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.6439-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000664694]|MYO7A-Related Disorders [RCV000778156]|Rare genetic deafness [RCV000036235]|Usher syndrome type 1B [RCV001275537]|not provided [RCV001208546] Chr11:77213858 [GRCh38]
Chr11:76924903 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter) single nucleotide variant Rare genetic deafness [RCV000036236] Chr11:77213919 [GRCh38]
Chr11:76924964 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000357524]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000300484]|Usher syndrome type 1 [RCV000402816]|Usher syndrome type 1B [RCV001831645]|not provided [RCV000992408]|not specified [RCV000036237] Chr11:77213940 [GRCh38]
Chr11:76924985 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.6558+16G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533408]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533409]|Usher syndrome type 1 [RCV001533410]|not provided [RCV001513066]|not specified [RCV000036238] Chr11:77213995 [GRCh38]
Chr11:76925040 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6558+9G>A single nucleotide variant not provided [RCV000900251]|not specified [RCV000036239] Chr11:77213988 [GRCh38]
Chr11:76925033 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6559-11C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000304974]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000269774]|Usher syndrome type 1 [RCV000361935]|not provided [RCV001513137]|not specified [RCV000036240] Chr11:77214596 [GRCh38]
Chr11:76925641 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000675126]|Usher syndrome [RCV000036241]|Usher syndrome type 1B [RCV001275540] Chr11:77214608 [GRCh38]
Chr11:76925653 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.6570G>A (p.Met2190Ile) single nucleotide variant Usher syndrome type 1B [RCV001835647]|not provided [RCV001770054]|not specified [RCV000036242] Chr11:77214618 [GRCh38]
Chr11:76925663 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6577C>T (p.Leu2193Phe) single nucleotide variant Usher syndrome type 1B [RCV001826555]|not specified [RCV000036243] Chr11:77214625 [GRCh38]
Chr11:76925670 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000387468]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000330682]|Meniere disease [RCV001526689]|Usher syndrome type 1 [RCV000295167]|Usher syndrome type 1B [RCV001275541]|not provided [RCV000224230]|not specified [RCV000036244] Chr11:77214688 [GRCh38]
Chr11:76925733 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111838]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109574]|Usher syndrome type 1 [RCV001111839]|Usher syndrome type 1B [RCV001831646]|not provided [RCV000906062]|not specified [RCV000036245] Chr11:77156956 [GRCh38]
Chr11:76868002 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) single nucleotide variant Hearing loss, autosomal recessive [RCV001291466]|Inborn genetic diseases [RCV000622429]|Rare genetic deafness [RCV000036247]|Usher syndrome [RCV003323371]|not provided [RCV001852752] Chr11:77156991 [GRCh38]
Chr11:76868037 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.72C>T (p.Ile24=) single nucleotide variant not provided [RCV001414978]|not specified [RCV000036248] Chr11:77142762 [GRCh38]
Chr11:76853808 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.736-15_736-4dup duplication not provided [RCV000224378]|not specified [RCV000036249] Chr11:77157263..77157264 [GRCh38]
Chr11:76868309..76868310 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000359913]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002496556]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000265255]|Usher syndrome type 1 [RCV000320317]|Usher syndrome type 1B [RCV001275898]|not provided [RCV001512275]|not specified [RCV000036250] Chr11:77157326 [GRCh38]
Chr11:76868372 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000331379]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000357024]|Usher syndrome type 1 [RCV000273950]|Usher syndrome type 1B [RCV001275884]|not provided [RCV000960115]|not specified [RCV000036252] Chr11:77142783 [GRCh38]
Chr11:76853829 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670120]|Rare genetic deafness [RCV000036253]|Retinal dystrophy [RCV001075598]|Usher syndrome type 1B [RCV001275899]|not provided [RCV000421042] Chr11:77158426 [GRCh38]
Chr11:76869472 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110260]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000664754]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110259]|Usher syndrome type 1 [RCV001110261]|not provided [RCV000910290]|not specified [RCV000036930] Chr11:77184686 [GRCh38]
Chr11:76895731 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
NM_000260.4(MYO7A):c.1324G>A (p.Glu442Lys) single nucleotide variant Malignant melanoma [RCV000069701] Chr11:77161096 [GRCh38]
Chr11:76872142 [GRCh37]
Chr11:76549790 [NCBI36]
Chr11:11q13.5
uncertain significance|not provided
NM_000260.4(MYO7A):c.5166C>T (p.Phe1722=) single nucleotide variant not provided [RCV000658005] Chr11:77202422 [GRCh38]
Chr11:76913467 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000660470]|Usher syndrome type 1B [RCV001278608] Chr11:77157322 [GRCh38]
Chr11:76868368 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5637-173C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673259] Chr11:77205924 [GRCh38]
Chr11:76916969 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) duplication Rare genetic deafness [RCV000036123]|Usher syndrome [RCV003155050]|not provided [RCV001388466] Chr11:77190115..77190116 [GRCh38]
Chr11:76901160..76901161 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.397dup (p.His133fs) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000409086]|Hearing loss, autosomal recessive [RCV001291464]|MYO7A-related condition [RCV003415767]|Rare genetic deafness [RCV000844713]|Usher syndrome [RCV003324501]|Usher syndrome type 1 [RCV000036133]|not provided [RCV001212883] Chr11:77156011..77156012 [GRCh38]
Chr11:76867057..76867058 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) duplication Rare genetic deafness [RCV000036180]|Retinal dystrophy [RCV001073537]|not provided [RCV001291607] Chr11:77203097..77203098 [GRCh38]
Chr11:76914142..76914143 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5581dup (p.Arg1861fs) duplication Rare genetic deafness [RCV000036194] Chr11:77205559..77205560 [GRCh38]
Chr11:76916604..76916605 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4441+19T>C single nucleotide variant not provided [RCV001457844]|not specified [RCV000127056] Chr11:77197617 [GRCh38]
Chr11:76908662 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5043+20C>T single nucleotide variant not provided [RCV001520331]|not specified [RCV000127058] Chr11:77201658 [GRCh38]
Chr11:76912703 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5743-17C>T single nucleotide variant not provided [RCV001523754]|not specified [RCV000127061] Chr11:77207272 [GRCh38]
Chr11:76918317 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2462A>G (p.Gln821Arg) single nucleotide variant not provided [RCV003223971] Chr11:77179829 [GRCh38]
Chr11:76890875 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000307060]|Autosomal dominant nonsyndromic hearing loss 11 [RCV000765014]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000365276]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000675124]|Usher syndrome type 1 [RCV000395526]|Usher syndrome type 1B [RCV001831992]|not provided [RCV000171199] Chr11:77179856 [GRCh38]
Chr11:76890902 [GRCh37]
Chr11:11q13.5
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000790513]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000668846]|Hearing loss, autosomal recessive [RCV001291475]|MYO7A-related condition [RCV003420184]|not provided [RCV001242948] Chr11:77184714 [GRCh38]
Chr11:76895759 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.3(MYO7A):c.3586_3587delTC (p.Cys1198Argfs) deletion not provided [RCV000171464] Chr11:77189426..77189427 [GRCh38]
Chr11:76900471..76900472 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667070]|not provided [RCV000178544] Chr11:77208720 [GRCh38]
Chr11:76919765 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) single nucleotide variant not provided [RCV000430461]|not specified [RCV000177929] Chr11:77203215 [GRCh38]
Chr11:76914260 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.696T>C (p.Ile232=) single nucleotide variant not provided [RCV001494145] Chr11:77156965 [GRCh38]
Chr11:76868011 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4413C>T (p.Ser1471=) single nucleotide variant not provided [RCV003221553] Chr11:77197570 [GRCh38]
Chr11:76908615 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000410532]|Usher syndrome type 1 [RCV000408981]|not provided [RCV001850975] Chr11:77182577 [GRCh38]
Chr11:76893622 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3375+153A>T single nucleotide variant not provided [RCV001572610] Chr11:77183310 [GRCh38]
Chr11:76894355 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1977del (p.Gly660fs) deletion Usher syndrome [RCV000504671] Chr11:77174797 [GRCh38]
Chr11:76885843 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3109-128G>A single nucleotide variant not provided [RCV001565168] Chr11:77182296 [GRCh38]
Chr11:76893341 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3850T>C (p.Cys1284Arg) single nucleotide variant not provided [RCV001348934] Chr11:77190796 [GRCh38]
Chr11:76901841 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6122T>C (p.Ile2041Thr) single nucleotide variant Usher syndrome type 1B [RCV001825949]|not provided [RCV001349080] Chr11:77211222 [GRCh38]
Chr11:76922267 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.289T>C (p.Tyr97His) single nucleotide variant not provided [RCV001348120] Chr11:77155910 [GRCh38]
Chr11:76866956 [GRCh37]
Chr11:11q13.5
uncertain significance
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) single nucleotide variant Usher syndrome type 1B [RCV001276684]|not provided [RCV000175132] Chr11:77174845 [GRCh38]
Chr11:76885891 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11q13.5(chr11:77104062-77324724)x1 copy number loss See cases [RCV000137098] Chr11:77104062..77324724 [GRCh38]
Chr11:76900813..77035769 [GRCh37]
Chr11:76492756..76713417 [NCBI36]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4667C>T (p.Pro1556Leu) single nucleotide variant not provided [RCV000914325]|not specified [RCV000202958] Chr11:77199633 [GRCh38]
Chr11:76910678 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val) single nucleotide variant Usher syndrome type 1B [RCV001279800]|not specified [RCV000155768] Chr11:77194372 [GRCh38]
Chr11:76905417 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000225087]|Bilateral sensorineural hearing impairment [RCV001254945]|MYO7A-related condition [RCV003398811]|Rare genetic deafness [RCV000155771]|not provided [RCV001850134]|not specified [RCV000506187] Chr11:77156958 [GRCh38]
Chr11:76868004 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3564_3571delinsA (p.Tyr1188_Gly1191delinsTer) indel Rare genetic deafness [RCV000155845] Chr11:77189404..77189411 [GRCh38]
Chr11:76900449..76900456 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.765C>T (p.Phe255=) single nucleotide variant not specified [RCV000155853] Chr11:77157308 [GRCh38]
Chr11:76868354 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666779]|not provided [RCV001395864]|not specified [RCV000155891] Chr11:77190058 [GRCh38]
Chr11:76901103 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg) single nucleotide variant not provided [RCV001347350]|not specified [RCV000155931] Chr11:77172853 [GRCh38]
Chr11:76883899 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666745]|not provided [RCV001033976]|not specified [RCV000151488] Chr11:77166091 [GRCh38]
Chr11:76877137 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113007]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002505174]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988611]|Usher syndrome type 1 [RCV001113006]|Usher syndrome type 1B [RCV001272513]|not provided [RCV001054597]|not specified [RCV000155994] Chr11:77190048 [GRCh38]
Chr11:76901093 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.3(MYO7A):c.(?_6355)_(6648_?)del deletion Rare genetic deafness [RCV000156116] Chr11:77212952..77214696 [GRCh38]
Chr11:76923997..76925741 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6243C>A (p.Ile2081=) single nucleotide variant Usher syndrome type 1B [RCV001835698]|not specified [RCV000156175] Chr11:77211826 [GRCh38]
Chr11:76922871 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4153-8C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000664878]|Usher syndrome type 1B [RCV001271757]|not provided [RCV001476029]|not specified [RCV000156221] Chr11:77194346 [GRCh38]
Chr11:76905391 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000675162]|Inborn genetic diseases [RCV000623408]|Usher syndrome [RCV001004779]|not provided [RCV001091732]|not specified [RCV000156269] Chr11:77184715 [GRCh38]
Chr11:76895760 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000671980]|not provided [RCV002516332]|not specified [RCV000156304] Chr11:77184684 [GRCh38]
Chr11:76895729 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.849+7C>G single nucleotide variant not provided [RCV000724827]|not specified [RCV000156311] Chr11:77157399 [GRCh38]
Chr11:76868445 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5481-15C>T single nucleotide variant not provided [RCV002056126]|not specified [RCV000156358] Chr11:77205447 [GRCh38]
Chr11:76916492 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) single nucleotide variant Rare genetic deafness [RCV000156361]|Usher syndrome [RCV003398813]|Usher syndrome type 1 [RCV002463651] Chr11:77130635 [GRCh38]
Chr11:76841681 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000332953]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000277884]|Usher syndrome type 1 [RCV000373643]|Usher syndrome type 1B [RCV001272807]|not provided [RCV000944578]|not specified [RCV000156425] Chr11:77203063 [GRCh38]
Chr11:76914108 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.470+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666967]|Rare genetic deafness [RCV000154316]|Usher syndrome type 1 [RCV001028034]|Usher syndrome type 1B [RCV001831959]|not provided [RCV002293422] Chr11:77156092 [GRCh38]
Chr11:76867138 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674570]|Rare genetic deafness [RCV000154329]|Retinal dystrophy [RCV001073538]|Usher syndrome [RCV003330513]|Usher syndrome type 1B [RCV001831960]|not provided [RCV001224495] Chr11:77142763 [GRCh38]
Chr11:76853809 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) single nucleotide variant Rare genetic deafness [RCV000154330]|Usher syndrome [RCV003479023]|Usher syndrome type 1B [RCV001826829]|not provided [RCV001850112] Chr11:77192105 [GRCh38]
Chr11:76903150 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) single nucleotide variant Rare genetic deafness [RCV000154340]|not provided [RCV002516104] Chr11:77142767 [GRCh38]
Chr11:76853813 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000406568]|Autosomal dominant nonsyndromic hearing loss 11 [RCV000844912]|Autosomal recessive nonsyndromic hearing loss 2 [RCV003152592]|MYO7A-Related Disorders [RCV000303529]|Usher syndrome [RCV000787987]|Usher syndrome type 1 [RCV001003087]|Usher syndrome type 1B [RCV001272505]|not provided [RCV000994688]|not specified [RCV000154342] Chr11:77179843 [GRCh38]
Chr11:76890889 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002478450]|Rare genetic deafness [RCV000154343]|not provided [RCV001222349] Chr11:77181548 [GRCh38]
Chr11:76892594 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.758A>G (p.His253Arg) single nucleotide variant Inborn genetic diseases [RCV002515021]|Usher syndrome type 1B [RCV001826852]|not provided [RCV001571850]|not specified [RCV000156478] Chr11:77157301 [GRCh38]
Chr11:76868347 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) duplication Rare genetic deafness [RCV000156543]|Usher syndrome type 1 [RCV003326124]|not provided [RCV001850162] Chr11:77211329..77211330 [GRCh38]
Chr11:76922374..76922375 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5857-3C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672871]|Usher syndrome type 1B [RCV001275526]|not provided [RCV001307978]|not specified [RCV000156568] Chr11:77208427 [GRCh38]
Chr11:76919472 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2421C>T (p.His807=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665709]|not provided [RCV000929501]|not specified [RCV000156626] Chr11:77179788 [GRCh38]
Chr11:76890834 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112218]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112219]|Usher syndrome type 1 [RCV001112220]|not provided [RCV000939943]|not specified [RCV000156640] Chr11:77156703 [GRCh38]
Chr11:76867749 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110523]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000664469]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110522]|Usher syndrome type 1 [RCV001110524]|not provided [RCV000979350]|not specified [RCV000156665] Chr11:77162319 [GRCh38]
Chr11:76873365 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666382]|Retinal dystrophy [RCV001073912]|Usher syndrome type 1B [RCV001273494]|not provided [RCV001314043]|not specified [RCV000151504] Chr11:77190802 [GRCh38]
Chr11:76901847 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001808416]|Rare genetic deafness [RCV000844721]|Usher syndrome type 1 [RCV000151505]|not provided [RCV001214273] Chr11:77190838 [GRCh38]
Chr11:76901883 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.4153-11C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672424]|not specified [RCV000151506] Chr11:77194343 [GRCh38]
Chr11:76905388 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4441+7C>T single nucleotide variant Retinal dystrophy [RCV001073918]|Usher syndrome type 1B [RCV001271762]|not provided [RCV000724056]|not specified [RCV000151510] Chr11:77197605 [GRCh38]
Chr11:76908650 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=) single nucleotide variant not provided [RCV001770114]|not specified [RCV000151511] Chr11:77198541 [GRCh38]
Chr11:76909586 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5504A>G (p.Glu1835Gly) single nucleotide variant not specified [RCV000151516] Chr11:77205485 [GRCh38]
Chr11:76916530 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) single nucleotide variant Rare genetic deafness [RCV000151522]|Usher syndrome [RCV001089684]|not provided [RCV000591925] Chr11:77211909 [GRCh38]
Chr11:76922954 [GRCh37]
Chr11:11q13.5
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5169-5G>A single nucleotide variant Usher syndrome type 1B [RCV001272806]|not provided [RCV001521351]|not specified [RCV000156737] Chr11:77203055 [GRCh38]
Chr11:76914100 [GRCh37]
Chr11:11q13.5
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) single nucleotide variant Rare genetic deafness [RCV000156777]|not provided [RCV002516348] Chr11:77155908 [GRCh38]
Chr11:76866954 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.4153-7C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666882]|Usher syndrome type 1B [RCV001271758]|not provided [RCV000841788]|not specified [RCV000156864] Chr11:77194347 [GRCh38]
Chr11:76905392 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000675121]|Rare genetic deafness [RCV000155024]|Usher syndrome [RCV001171535]|not provided [RCV001850120] Chr11:77190773 [GRCh38]
Chr11:76901818 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.3109-13_3109-12insTCTGGCCTCTGACATGTGCGC insertion not specified [RCV000155028] Chr11:77182406..77182407 [GRCh38]
Chr11:76893456..76893457 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001115098]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109454]|Usher syndrome type 1 [RCV001115097]|Usher syndrome type 1B [RCV001274688]|not provided [RCV000487904]|not specified [RCV000155223] Chr11:77156069 [GRCh38]
Chr11:76867115 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.133-14C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000389307]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000326626]|Usher syndrome type 1 [RCV000287875]|not provided [RCV001513645]|not specified [RCV000155224] Chr11:77147784 [GRCh38]
Chr11:76858830 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112307]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112308]|Usher syndrome type 1 [RCV001112309]|not provided [RCV000724234]|not specified [RCV000155225] Chr11:77157346 [GRCh38]
Chr11:76868392 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111942]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111944]|Inborn genetic diseases [RCV002516123]|MYO7A-related condition [RCV003416009]|Usher syndrome type 1 [RCV001111943]|not provided [RCV001040160]|not specified [RCV000155226] Chr11:77160208 [GRCh38]
Chr11:76871254 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000664693]|not provided [RCV001413576]|not specified [RCV000155227] Chr11:77162282 [GRCh38]
Chr11:76873328 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1554+7C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000342098]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000287143]|Usher syndrome type 1 [RCV000402760]|Usher syndrome type 1B [RCV001275902]|not provided [RCV000903441]|not specified [RCV000155228] Chr11:77162337 [GRCh38]
Chr11:76873383 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1587C>T (p.Asn529=) single nucleotide variant not provided [RCV000977245]|not specified [RCV000155229] Chr11:77162885 [GRCh38]
Chr11:76873931 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2587-14C>T single nucleotide variant not provided [RCV001513918]|not specified [RCV000155230] Chr11:77180360 [GRCh38]
Chr11:76891406 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000388720]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000288323]|Usher syndrome type 1 [RCV000345669]|not provided [RCV000974265]|not specified [RCV000155231] Chr11:77182132 [GRCh38]
Chr11:76893178 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3925-8G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113087]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113088]|Usher syndrome type 1 [RCV001113086]|not provided [RCV000828165]|not specified [RCV000155232] Chr11:77192043 [GRCh38]
Chr11:76903088 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4153-8C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111184]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111183]|Usher syndrome type 1 [RCV001111185]|not provided [RCV000904231]|not specified [RCV000155233] Chr11:77194346 [GRCh38]
Chr11:76905391 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000765017]|Inborn genetic diseases [RCV002514989]|Usher syndrome type 1B [RCV001273498]|not provided [RCV001037020]|not specified [RCV000155234] Chr11:77194396 [GRCh38]
Chr11:76905441 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly) single nucleotide variant Inborn genetic diseases [RCV002516124]|Usher syndrome type 1B [RCV001831963]|not provided [RCV001051946]|not specified [RCV000155235] Chr11:77194423 [GRCh38]
Chr11:76905468 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000357884]|Nonsyndromic Hearing Loss, Recessive [RCV000267931]|Retinitis pigmentosa-deafness syndrome [RCV000323066]|Usher syndrome type 1B [RCV001272800]|not provided [RCV000733015]|not specified [RCV000155236] Chr11:77199817 [GRCh38]
Chr11:76910862 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) single nucleotide variant Usher syndrome type 1B [RCV001273509]|not provided [RCV000733418]|not specified [RCV000155237] Chr11:77203144 [GRCh38]
Chr11:76914189 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112054]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112055]|Usher syndrome type 1 [RCV001112053]|not provided [RCV001461873]|not specified [RCV000155238] Chr11:77204167 [GRCh38]
Chr11:76915212 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr) single nucleotide variant Inborn genetic diseases [RCV003258673]|not provided [RCV001242574]|not specified [RCV000155239] Chr11:77204105 [GRCh38]
Chr11:76915150 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111576]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111577]|Usher syndrome type 1 [RCV001111578]|not provided [RCV000953292]|not specified [RCV000155240] Chr11:77204122 [GRCh38]
Chr11:76915167 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111950]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111952]|Usher syndrome type 1 [RCV001111951]|not provided [RCV000842733]|not specified [RCV000155241] Chr11:77212960 [GRCh38]
Chr11:76924005 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000477766]|Usher syndrome type 1B [RCV001826836]|not provided [RCV001241068]|not specified [RCV000155242] Chr11:77205476 [GRCh38]
Chr11:76916521 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000411148]|MYO7A-Related Disorders [RCV000319894]|Rare genetic deafness [RCV000844723]|Retinal dystrophy [RCV000225571]|Usher syndrome type 1 [RCV000155243]|Usher syndrome type 1B [RCV001831964]|not provided [RCV001544789] Chr11:77208472 [GRCh38]
Chr11:76919517 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000386123]|Autosomal dominant nonsyndromic hearing loss 11 [RCV000765019]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001089552]|Meniere disease [RCV001526687]|Usher syndrome type 1 [RCV000290561]|Usher syndrome type 1B [RCV001274807]|not provided [RCV001034255]|not specified [RCV000155244] Chr11:77211830 [GRCh38]
Chr11:76922875 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.284A>T (p.Tyr95Phe) single nucleotide variant Rare genetic deafness [RCV000151475] Chr11:77147949 [GRCh38]
Chr11:76858995 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001115096]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665283]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001115095]|Usher syndrome type 1 [RCV001115094]|Usher syndrome type 1B [RCV001831942]|not provided [RCV001054443]|not specified [RCV000151476] Chr11:77156018 [GRCh38]
Chr11:76867064 [GRCh37]
Chr11:11q13.5
pathogenic|likely benign|uncertain significance
NM_000260.4(MYO7A):c.973_976del (p.Ile325fs) deletion Rare genetic deafness [RCV000151481] Chr11:77158398..77158401 [GRCh38]
Chr11:76869444..76869447 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) single nucleotide variant Hearing loss, autosomal recessive [RCV001291467]|MYO7A-Related Disorders [RCV000778340]|Rare genetic deafness [RCV000151482]|Usher syndrome [RCV001252672]|Usher syndrome type 1 [RCV001810427]|not provided [RCV000498129] Chr11:77158404 [GRCh38]
Chr11:76869450 [GRCh37]
Chr11:11q13.5
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109643]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109644]|Retinal dystrophy [RCV001075256]|Usher syndrome type 1 [RCV001109642]|not provided [RCV001514137]|not specified [RCV000151483] Chr11:77159449 [GRCh38]
Chr11:76870495 [GRCh37]
Chr11:11q13.5
benign|uncertain significance
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669568]|not specified [RCV000151484] Chr11:77160205 [GRCh38]
Chr11:76871251 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) single nucleotide variant Usher syndrome [RCV000151486]|Usher syndrome type 1 [RCV001808415] Chr11:77162881 [GRCh38]
Chr11:76873927 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.2091G>A (p.Lys697=) single nucleotide variant not provided [RCV000982646]|not specified [RCV000151493] Chr11:77174911 [GRCh38]
Chr11:76885957 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109908]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109907]|Usher syndrome type 1 [RCV001109909]|not provided [RCV000941064]|not specified [RCV000151495] Chr11:77175383 [GRCh38]
Chr11:76886429 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670096]|Usher syndrome type 1B [RCV001276691]|not provided [RCV002514916]|not specified [RCV000151499] Chr11:77179855 [GRCh38]
Chr11:76890901 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2625G>A (p.Ala875=) single nucleotide variant not provided [RCV000927346]|not specified [RCV000151500] Chr11:77180412 [GRCh38]
Chr11:76891458 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2829G>A (p.Val943=) single nucleotide variant not specified [RCV000151501] Chr11:77181514 [GRCh38]
Chr11:76892560 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4323+12G>A single nucleotide variant not provided [RCV001520330]|not specified [RCV000151508] Chr11:77194536 [GRCh38]
Chr11:76905581 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile) single nucleotide variant not provided [RCV001033987]|not specified [RCV000151524] Chr11:77214663 [GRCh38]
Chr11:76925708 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1798-15C>T single nucleotide variant not provided [RCV001519570]|not specified [RCV000155378] Chr11:77172733 [GRCh38]
Chr11:76883779 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111383]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111381]|Usher syndrome type 1 [RCV001111382]|not provided [RCV000971579]|not specified [RCV000155379] Chr11:77199811 [GRCh38]
Chr11:76910856 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000675112]|Rare genetic deafness [RCV000155424]|Usher syndrome [RCV001089675]|not provided [RCV000594093] Chr11:77160980 [GRCh38]
Chr11:76872026 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5464A>C (p.Thr1822Pro) single nucleotide variant Rare genetic deafness [RCV000155694] Chr11:77204213 [GRCh38]
Chr11:76915258 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002498756]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666398]|Usher syndrome type 1B [RCV001273506]|not provided [RCV001219511]|not specified [RCV000155708] Chr11:77202351 [GRCh38]
Chr11:76913396 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) duplication not provided [RCV000881565]|not specified [RCV000270443] Chr11:77214658..77214659 [GRCh38]
Chr11:76925703..76925704 [GRCh37]
Chr11:11q13.5
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=) single nucleotide variant not provided [RCV000153523] Chr11:77190118 [GRCh38]
Chr11:76901163 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5589C>G (p.His1863Gln) single nucleotide variant not provided [RCV000153524] Chr11:77205570 [GRCh38]
Chr11:76916615 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*8C>T single nucleotide variant not provided [RCV000153525] Chr11:77214704 [GRCh38]
Chr11:76925749 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2572C>T (p.Arg858Cys) single nucleotide variant not provided [RCV000176147] Chr11:77179939 [GRCh38]
Chr11:76890985 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2340T>G (p.Gly780=) single nucleotide variant not provided [RCV000176029] Chr11:77179102 [GRCh38]
Chr11:76890148 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667801]|Usher syndrome type 1B [RCV001832023]|not provided [RCV000724417]|not specified [RCV000214220] Chr11:77205475 [GRCh38]
Chr11:76916520 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002500491]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665185]|Retinal dystrophy [RCV001073919]|Usher syndrome [RCV001171544]|Usher syndrome type 1 [RCV000988610]|not provided [RCV000724054] Chr11:77189367 [GRCh38]
Chr11:76900412 [GRCh37]
Chr11:11q13.5
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) single nucleotide variant Usher syndrome type 1B [RCV001278603]|not provided [RCV000177023] Chr11:77142729 [GRCh38]
Chr11:76853775 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) single nucleotide variant Usher syndrome type 1B [RCV001272798]|not provided [RCV000724089]|not specified [RCV000177824] Chr11:77199723 [GRCh38]
Chr11:76910768 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro) single nucleotide variant Usher syndrome type 1 [RCV001526727]|not provided [RCV001873715] Chr11:77211171 [GRCh38]
Chr11:76922216 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.314T>G (p.Val105Gly) single nucleotide variant Rare genetic deafness [RCV000219484] Chr11:77155935 [GRCh38]
Chr11:76866981 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5600C>T (p.Ala1867Val) single nucleotide variant not specified [RCV000217181] Chr11:77205581 [GRCh38]
Chr11:76916626 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667715]|Usher syndrome type 1B [RCV001828079]|not provided [RCV001815253]|not specified [RCV000213297] Chr11:77199810 [GRCh38]
Chr11:76910855 [GRCh37]
Chr11:11q13.5
uncertain significance
NP_000251.3(MYO7A):p.Tyr1302fsTer97 protein only Usher syndrome type 1 [RCV000213339] Chr11:11q13.5 pathogenic
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002503858]|Usher syndrome type 1B [RCV001835732]|not provided [RCV000756410]|not specified [RCV000220021] Chr11:77179070 [GRCh38]
Chr11:76890116 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4254C>T (p.Pro1418=) single nucleotide variant not provided [RCV001408364]|not specified [RCV000220169] Chr11:77194455 [GRCh38]
Chr11:76905500 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1138G>A (p.Glu380Lys) single nucleotide variant not specified [RCV000215457] Chr11:77160220 [GRCh38]
Chr11:76871266 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro) single nucleotide variant Usher syndrome type 1 [RCV000220295] Chr11:77213978 [GRCh38]
Chr11:76925023 [GRCh37]
Chr11:11q13.5
likely pathogenic|not provided
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666203]|not provided [RCV002518178]|not specified [RCV000213823] Chr11:77184663 [GRCh38]
Chr11:76895708 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000770844]|Rare genetic deafness [RCV000220369] Chr11:77175392 [GRCh38]
Chr11:76886438 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5845_5855del (p.Ile1949fs) deletion Rare genetic deafness [RCV000220428] Chr11:77207389..77207399 [GRCh38]
Chr11:76918436..76918446 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4650G>A (p.Pro1550=) single nucleotide variant not provided [RCV001411380]|not specified [RCV000213960] Chr11:77199616 [GRCh38]
Chr11:76910661 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667161]|MYO7A-Related Disorders [RCV000626210]|Usher syndrome [RCV001171528]|Usher syndrome type 1B [RCV001828081]|not provided [RCV001345738]|not specified [RCV000218120] Chr11:77184703 [GRCh38]
Chr11:76895748 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114379]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113009]|Usher syndrome type 1 [RCV001113008]|not provided [RCV000879349]|not specified [RCV000220518] Chr11:77190091 [GRCh38]
Chr11:76901136 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val) single nucleotide variant MYO7A-related condition [RCV003417776]|Usher syndrome type 1B [RCV001828080]|not provided [RCV001566962]|not specified [RCV000220543] Chr11:77203155 [GRCh38]
Chr11:76914200 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) microsatellite Rare genetic deafness [RCV000222358]|Usher syndrome [RCV003389465]|not provided [RCV000171464] Chr11:77189426..77189427 [GRCh38]
Chr11:76900471..76900472 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.285+14C>G single nucleotide variant not specified [RCV000222372] Chr11:77147964 [GRCh38]
Chr11:76859010 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3924+10CCCGGAAGCACCTCCT[3] microsatellite not provided [RCV001449399]|not specified [RCV000215847] Chr11:77190879..77190880 [GRCh38]
Chr11:76901924..76901925 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000984287]|Rare genetic deafness [RCV000215887]|Usher syndrome type 1 [RCV000984198]|not provided [RCV002517524] Chr11:77181589 [GRCh38]
Chr11:76892635 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.593-4G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672267]|not provided [RCV001429291]|not specified [RCV000218298] Chr11:77156858 [GRCh38]
Chr11:76867904 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3864C>T (p.Ala1288=) single nucleotide variant not provided [RCV000842052]|not specified [RCV000214232] Chr11:77190810 [GRCh38]
Chr11:76901855 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser) single nucleotide variant Usher syndrome type 1 [RCV000216077] Chr11:77179073 [GRCh38]
Chr11:76890119 [GRCh37]
Chr11:11q13.5
pathogenic|not provided
NM_000260.4(MYO7A):c.3375+14C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114283]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114284]|Usher syndrome type 1 [RCV001114285]|not provided [RCV002057121]|not specified [RCV000216118] Chr11:77183171 [GRCh38]
Chr11:76894216 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000405741]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000303792]|Usher syndrome type 1 [RCV000358625]|Usher syndrome type 1B [RCV001274698]|not provided [RCV000725835]|not specified [RCV000218429] Chr11:77161060 [GRCh38]
Chr11:76872106 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000299195]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000390552]|Pendred syndrome [RCV001375348]|Retinitis pigmentosa [RCV000787855]|Usher syndrome type 1 [RCV000337813]|Usher syndrome type 1B [RCV001276699]|not provided [RCV000585568]|not specified [RCV000220951] Chr11:77182598 [GRCh38]
Chr11:76893643 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110521]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000664870]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109740]|Usher syndrome type 1 [RCV001109741]|not provided [RCV001476961]|not specified [RCV000222635] Chr11:77162144 [GRCh38]
Chr11:76873190 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112601]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666700]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112600]|Usher syndrome type 1 [RCV001113932]|Usher syndrome type 1B [RCV001833211]|not provided [RCV001301731]|not specified [RCV000222692] Chr11:77174765 [GRCh38]
Chr11:76885811 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000765018]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666572]|Usher syndrome type 1B [RCV001272810]|not provided [RCV002518177]|not specified [RCV000216251] Chr11:77203137 [GRCh38]
Chr11:76914182 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.223del (p.Asp75fs) deletion Usher syndrome type 1 [RCV000222769]|not provided [RCV001853405] Chr11:77147884 [GRCh38]
Chr11:76858930 [GRCh37]
Chr11:11q13.5
pathogenic|not provided
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000394833]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000344299]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000675049]|Usher syndrome type 1 [RCV000308007]|Usher syndrome type 1B [RCV001272494]|not provided [RCV001853425]|not specified [RCV000222836] Chr11:77162917 [GRCh38]
Chr11:76873963 [GRCh37]
Chr11:11q13.5
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112773]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112774]|Usher syndrome type 1 [RCV001112775]|Usher syndrome type 1B [RCV001276692]|not provided [RCV000901706]|not specified [RCV000222966] Chr11:77179873 [GRCh38]
Chr11:76890919 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1623C>G (p.Pro541=) single nucleotide variant not provided [RCV001490282]|not specified [RCV000216457] Chr11:77162921 [GRCh38]
Chr11:76873967 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000454150]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000675097]|not provided [RCV002510821]|not specified [RCV000223066] Chr11:77160199 [GRCh38]
Chr11:76871245 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000675133]|Rare genetic deafness [RCV000223094]|Usher syndrome type 1 [RCV001449942]|Usher syndrome type 1B [RCV001275529]|not provided [RCV003126609] Chr11:77211162 [GRCh38]
Chr11:76922207 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) single nucleotide variant Retinal dystrophy [RCV000225646]|Usher syndrome [RCV001171542]|Usher syndrome type 1 [RCV000210299]|not provided [RCV002515581] Chr11:77192241 [GRCh38]
Chr11:76903286 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112846]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112848]|Hearing impairment [RCV001375364]|Usher syndrome type 1 [RCV001112847]|Usher syndrome type 1B [RCV001276696]|not provided [RCV000488266]|not specified [RCV000216662] Chr11:77181483 [GRCh38]
Chr11:76892529 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4555del (p.Val1519fs) deletion Rare genetic deafness [RCV000216749] Chr11:77198608 [GRCh38]
Chr11:76909653 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000664976]|Usher syndrome type 1B [RCV001275531]|not provided [RCV002519643]|not specified [RCV000221469] Chr11:77211192 [GRCh38]
Chr11:76922237 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665596]|Inborn genetic diseases [RCV002519642]|Usher syndrome type 1B [RCV001833212]|not provided [RCV000726877]|not specified [RCV000217051] Chr11:77174826 [GRCh38]
Chr11:76885872 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro) single nucleotide variant Usher syndrome type 1 [RCV000219432] Chr11:77174772 [GRCh38]
Chr11:76885818 [GRCh37]
Chr11:11q13.5
pathogenic|not provided
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110702]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110703]|Usher syndrome type 1 [RCV001112679]|not provided [RCV000941652]|not specified [RCV000219453] Chr11:77175458 [GRCh38]
Chr11:76886504 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
Single allele insertion not provided [RCV000224378] Chr11:76868309..76868310 [GRCh37] benign
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) single nucleotide variant Usher syndrome type 1B [RCV001271756]|not provided [RCV000224963] Chr11:77192192 [GRCh38]
Chr11:76903237 [GRCh37]
Chr11:11q13.5
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter) single nucleotide variant Retinal dystrophy [RCV000225423]|not provided [RCV001385689] Chr11:77189468 [GRCh38]
Chr11:76900513 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) single nucleotide variant Retinal dystrophy [RCV000225435]|Usher syndrome type 1 [RCV000760968] Chr11:77174796 [GRCh38]
Chr11:76885842 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674985]|Retinal dystrophy [RCV000225628] Chr11:77160217 [GRCh38]
Chr11:76871263 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000225019] Chr11:77156889 [GRCh38]
Chr11:76867935 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2905-1G>A single nucleotide variant Usher syndrome [RCV000504686] Chr11:77181950 [GRCh38]
Chr11:76892996 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4084G>A (p.Val1362Met) single nucleotide variant Usher syndrome type 1B [RCV001829715]|not provided [RCV002529352]|not specified [RCV000603496] Chr11:77192210 [GRCh38]
Chr11:76903255 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1284C>T (p.Asn428=) single nucleotide variant not provided [RCV002064187]|not specified [RCV000603510] Chr11:77161056 [GRCh38]
Chr11:76872102 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.736-3C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669703] Chr11:77157276 [GRCh38]
Chr11:76868322 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000669258] Chr11:77214676..77214691 [GRCh38]
Chr11:76925721..76925736 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670043]|not provided [RCV001543540] Chr11:77162124 [GRCh38]
Chr11:76873170 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5856+50G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533344]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533345]|Usher syndrome type 1 [RCV001533346]|not provided [RCV000829533]|not specified [RCV000251002] Chr11:77207452 [GRCh38]
Chr11:76918497 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3375+33G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533341]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533342]|Usher syndrome type 1 [RCV001533343]|not provided [RCV000829508]|not specified [RCV000251231] Chr11:77183190 [GRCh38]
Chr11:76894235 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4323+35G>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001778825]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001778824]|Usher syndrome type 1 [RCV001778826]|not provided [RCV000829528]|not specified [RCV000244381] Chr11:77194559 [GRCh38]
Chr11:76905604 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.736-47C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533390]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533391]|Usher syndrome type 1 [RCV001533392]|not provided [RCV000835222]|not specified [RCV000246986] Chr11:77157232 [GRCh38]
Chr11:76868278 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6438+50A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533380]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533381]|Usher syndrome type 1 [RCV001533382]|not provided [RCV000829534]|not specified [RCV000242494] Chr11:77213085 [GRCh38]
Chr11:76924130 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6439-31G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533383]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533384]|Usher syndrome type 1 [RCV001533407]|not provided [RCV001682968]|not specified [RCV000247284] Chr11:77213829 [GRCh38]
Chr11:76924874 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1004-35C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533292]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533293]|Usher syndrome type 1 [RCV001533294]|not provided [RCV000835223]|not specified [RCV000249862] Chr11:77159412 [GRCh38]
Chr11:76870458 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1936-23G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533301]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533302]|Usher syndrome type 1 [RCV001533328]|not provided [RCV000829504]|not specified [RCV000242972] Chr11:77174733 [GRCh38]
Chr11:76885779 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1845del (p.Lys615fs) deletion Usher syndrome type 1 [RCV000240660] Chr11:77172795 [GRCh38]
Chr11:76883841 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1343+50T>A single nucleotide variant not specified [RCV000253010] Chr11:77161165 [GRCh38]
Chr11:76872211 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000266912]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000324370]|Hearing impairment [RCV001375357]|Usher syndrome type 1 [RCV000376712]|Usher syndrome type 1B [RCV001279411]|not provided [RCV001239326] Chr11:77182060 [GRCh38]
Chr11:76893106 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000380115]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000340846]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000672205]|Usher syndrome type 1 [RCV000283519]|Usher syndrome type 1B [RCV001828315]|not provided [RCV001043573] Chr11:77194481 [GRCh38]
Chr11:76905526 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*142A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000407145]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000337377]|Usher syndrome type 1 [RCV000283549] Chr11:77214838 [GRCh38]
Chr11:76925883 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.-154G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000346140]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000301811]|Usher syndrome type 1 [RCV000396989] Chr11:77128382 [GRCh38]
Chr11:76839428 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2282+5G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000304617]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000353496]|Usher syndrome type 1 [RCV000268157]|Usher syndrome type 1B [RCV001276688]|not provided [RCV001245741]|not specified [RCV000611667] Chr11:77177648 [GRCh38]
Chr11:76888694 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000355606]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000403039]|Usher syndrome type 1 [RCV000302211]|not provided [RCV002056248] Chr11:77206127 [GRCh38]
Chr11:76917172 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000356721]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000303113]|Inborn genetic diseases [RCV002522209]|Usher syndrome type 1 [RCV000403390] Chr11:77199808 [GRCh38]
Chr11:76910853 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000381527]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000270717]|Usher syndrome type 1 [RCV000329095]|not provided [RCV002056247] Chr11:77190051 [GRCh38]
Chr11:76901096 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000286807]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000378907]|Usher syndrome type 1 [RCV000339449]|not provided [RCV001458388] Chr11:77180466 [GRCh38]
Chr11:76891512 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000335721]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404678]|Usher syndrome type 1 [RCV000305550]|Usher syndrome type 1B [RCV001271752]|not provided [RCV000916035]|not specified [RCV000608071] Chr11:77190804 [GRCh38]
Chr11:76901849 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000359563]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000271790]|Inborn genetic diseases [RCV003298369]|Usher syndrome type 1 [RCV000302453]|Usher syndrome type 1B [RCV001828314]|not provided [RCV001039078] Chr11:77184627 [GRCh38]
Chr11:76895672 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000287579]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000344870]|Inborn genetic diseases [RCV002520772]|Usher syndrome type 1 [RCV000379892]|Usher syndrome type 1B [RCV001833452]|not provided [RCV001365996] Chr11:77208503 [GRCh38]
Chr11:76919548 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000346581]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000288102]|Usher syndrome type 1 [RCV000382415]|Usher syndrome type 1B [RCV001274690]|not provided [RCV000902461] Chr11:77156738 [GRCh38]
Chr11:76867784 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000384820]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002487362]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000270634]|Usher syndrome type 1 [RCV000328010]|Usher syndrome type 1B [RCV001278606]|not provided [RCV002520770] Chr11:77147890 [GRCh38]
Chr11:76858936 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000365761]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000326285]|Usher syndrome type 1 [RCV000271212]|not provided [RCV001243912] Chr11:77158301 [GRCh38]
Chr11:76869347 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.-160G>A single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000402649]|Nonsyndromic Hearing Loss, Recessive [RCV000351800]|Retinitis pigmentosa-deafness syndrome [RCV000288651] Chr11:77128376 [GRCh38]
Chr11:76839422 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000403147]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000289817]|Usher syndrome type 1 [RCV000347141]|Usher syndrome type 1B [RCV001833450]|not provided [RCV000840679] Chr11:77181382 [GRCh38]
Chr11:76892428 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.*363A>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000332000]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000274629]|Usher syndrome type 1 [RCV000366858]|not provided [RCV001594393] Chr11:77215059 [GRCh38]
Chr11:76926104 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.*230A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000363433]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000309823]|Usher syndrome type 1 [RCV000404031]|not provided [RCV001690014] Chr11:77214926 [GRCh38]
Chr11:76925971 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000406574]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000310716]|Usher syndrome type 1 [RCV000346611]|not provided [RCV001444129] Chr11:77203156 [GRCh38]
Chr11:76914201 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000273282]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000327222]|Usher syndrome type 1 [RCV000365309]|not provided [RCV001850626] Chr11:77214648 [GRCh38]
Chr11:76925693 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*442T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000259693]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000370726]|Usher syndrome type 1 [RCV000317300]|not provided [RCV001778900] Chr11:77215138 [GRCh38]
Chr11:76926183 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.-211A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000260369]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000362086]|Usher syndrome type 1 [RCV000323641] Chr11:77128325 [GRCh38]
Chr11:76839371 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000363893]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000333807]|Meniere disease [RCV001526684]|Usher syndrome type 1 [RCV000276334]|Usher syndrome type 1B [RCV001833449]|not provided [RCV001207535] Chr11:77179874 [GRCh38]
Chr11:76890920 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000406123]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000311742]|Usher syndrome type 1 [RCV000350852]|not provided [RCV001503720] Chr11:77175384 [GRCh38]
Chr11:76886430 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000329699]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000374942]|Inborn genetic diseases [RCV002522208]|Usher syndrome type 1 [RCV000274537]|Usher syndrome type 1B [RCV001274700]|not provided [RCV000940796] Chr11:77162134 [GRCh38]
Chr11:76873180 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000330024]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002487363]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000369577]|Usher syndrome type 1 [RCV000277269]|not provided [RCV001859830]|not specified [RCV003317189] Chr11:77192165 [GRCh38]
Chr11:76903210 [GRCh37]
Chr11:11q13.5
pathogenic|uncertain significance
NM_000260.4(MYO7A):c.288G>T (p.Thr96=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000351609]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000313176]|Usher syndrome type 1 [RCV000394333]|not provided [RCV002056246] Chr11:77155909 [GRCh38]
Chr11:76866955 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000391723]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000348795]|Usher syndrome type 1 [RCV000295020]|Usher syndrome type 1B [RCV001272814]|not provided [RCV000944350] Chr11:77206100 [GRCh38]
Chr11:76917145 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000262329]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000373397]|Usher syndrome type 1 [RCV000316239]|not provided [RCV000732114] Chr11:77208469 [GRCh38]
Chr11:76919514 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000348276]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000389828]|Usher syndrome type 1 [RCV000295605]|Usher syndrome type 1B [RCV001828313]|not provided [RCV001315547] Chr11:77179739 [GRCh38]
Chr11:76890785 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000331580]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000295336]|Usher syndrome type 1 [RCV000380951]|not provided [RCV001465852] Chr11:77158322 [GRCh38]
Chr11:76869368 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000344917]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000295997]|Meniere disease [RCV001526683]|Usher syndrome type 1 [RCV000380863]|Usher syndrome type 1B [RCV001833447]|not provided [RCV001048255] Chr11:77174877 [GRCh38]
Chr11:76885923 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000354619]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000299486]|Usher syndrome type 1 [RCV000259771]|Usher syndrome type 1B [RCV001276679]|not provided [RCV001056085]|not specified [RCV000825399] Chr11:77172751 [GRCh38]
Chr11:76883797 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1690+9G>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000263099]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000367245]|Usher syndrome type 1 [RCV000312541]|not provided [RCV000907024] Chr11:77162997 [GRCh38]
Chr11:76874043 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000264654]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000322029]|Usher syndrome type 1 [RCV000378972]|not provided [RCV001859828] Chr11:77147904 [GRCh38]
Chr11:76858950 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000281613]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000341172]|Usher syndrome type 1 [RCV000406806]|not provided [RCV001850625] Chr11:77207397 [GRCh38]
Chr11:76918442 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000395630]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000298034]|Usher syndrome type 1 [RCV000355269]|Usher syndrome type 1B [RCV001833445]|not provided [RCV001059240] Chr11:77147825 [GRCh38]
Chr11:76858871 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.*504C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000374295]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000320801]|Usher syndrome type 1 [RCV000282133]|not provided [RCV001709585] Chr11:77215200 [GRCh38]
Chr11:76926245 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000374878]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000280481]|Usher syndrome type 1 [RCV000335541]|Usher syndrome type 1B [RCV001833448]|not provided [RCV001240935] Chr11:77179778 [GRCh38]
Chr11:76890824 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000404938]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000300737]|Usher syndrome type 1 [RCV000335764]|not provided [RCV000943569] Chr11:77206121 [GRCh38]
Chr11:76917166 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000298880]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000263554]|Usher syndrome type 1 [RCV000353636]|Usher syndrome type 1B [RCV001833451]|not provided [RCV001091735]|not specified [RCV000608053] Chr11:77204129 [GRCh38]
Chr11:76915174 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1344-7C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000269702]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000334180]|Usher syndrome type 1 [RCV000369160] Chr11:77162113 [GRCh38]
Chr11:76873159 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000371634]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000316984]|Usher syndrome type 1 [RCV000280524] Chr11:77162330 [GRCh38]
Chr11:76873376 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000259261]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000319067]|Usher syndrome type 1 [RCV000374841]|not provided [RCV002522210] Chr11:77203105 [GRCh38]
Chr11:76914150 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000371787]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000281106]|Usher syndrome type 1 [RCV000340847] Chr11:77201632 [GRCh38]
Chr11:76912677 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) single nucleotide variant Usher syndrome type 1B [RCV001277330]|not provided [RCV000270823] Chr11:77208433 [GRCh38]
Chr11:76919478 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.-196C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000374627]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000282485]|Usher syndrome type 1 [RCV000317861] Chr11:77128340 [GRCh38]
Chr11:76839386 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1091C>A (p.Pro364Gln) single nucleotide variant MYO7A-related condition [RCV003417893]|not provided [RCV000277131] Chr11:77160173 [GRCh38]
Chr11:76871219 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) single nucleotide variant Usher syndrome type 1B [RCV001828223]|not provided [RCV000725788]|not specified [RCV000379856] Chr11:77203118 [GRCh38]
Chr11:76914163 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=) single nucleotide variant Usher syndrome type 1B [RCV001828195]|not provided [RCV000281308] Chr11:77177569 [GRCh38]
Chr11:76888615 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=) single nucleotide variant not provided [RCV000262779] Chr11:77189422 [GRCh38]
Chr11:76900467 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000391524]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000348275]|Usher syndrome type 1 [RCV000309751]|not provided [RCV001770244] Chr11:77208702 [GRCh38]
Chr11:76919747 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112142]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112143]|Usher syndrome type 1 [RCV001112141]|Usher syndrome type 1B [RCV001833329]|not provided [RCV000725341]|not specified [RCV000354082] Chr11:77206148 [GRCh38]
Chr11:76917193 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000275973]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000315275]|Usher syndrome type 1 [RCV000363005] Chr11:77147880 [GRCh38]
Chr11:76858926 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000311260]|Nonsyndromic Hearing Loss, Recessive [RCV000355987]|Retinitis pigmentosa-deafness syndrome [RCV000394663]|not provided [RCV001859829] Chr11:77181444 [GRCh38]
Chr11:76892490 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000311072]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000368170]|Usher syndrome type 1 [RCV000395629]|Usher syndrome type 1B [RCV001275886]|not provided [RCV000977630] Chr11:77147851 [GRCh38]
Chr11:76858897 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln) single nucleotide variant not provided [RCV000321111] Chr11:77201628 [GRCh38]
Chr11:76912673 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) single nucleotide variant Usher syndrome type 1B [RCV001828270]|not provided [RCV000726411]|not specified [RCV000395205] Chr11:77157000 [GRCh38]
Chr11:76868046 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000379329]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000265020]|Usher syndrome type 1 [RCV000324734] Chr11:77199596 [GRCh38]
Chr11:76910641 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000406232]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000352175]|Usher syndrome type 1 [RCV000312582]|Usher syndrome type 1B [RCV001833446]|not provided [RCV001245525]|not specified [RCV000606419] Chr11:77156751 [GRCh38]
Chr11:76867797 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112923]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112924]|Usher syndrome type 1 [RCV001112925]|Usher syndrome type 1B [RCV001271743]|not provided [RCV000323874]|not specified [RCV000825201] Chr11:77183079 [GRCh38]
Chr11:76894124 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109572]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109573]|Usher syndrome type 1 [RCV001109571]|not provided [RCV000726586] Chr11:77156945 [GRCh38]
Chr11:76867991 [GRCh37]
Chr11:11q13.5
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000266531]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000301710]|Usher syndrome type 1 [RCV000358818] Chr11:77155972 [GRCh38]
Chr11:76867018 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=) single nucleotide variant not provided [RCV000400811] Chr11:77192053 [GRCh38]
Chr11:76903098 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000343044]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404475]|Usher syndrome type 1 [RCV000278740] Chr11:77161014 [GRCh38]
Chr11:76872060 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4441+8G>A single nucleotide variant not provided [RCV000263824] Chr11:77197606 [GRCh38]
Chr11:76908651 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.401T>C (p.Ile134Thr) single nucleotide variant not provided [RCV000331588] Chr11:77156022 [GRCh38]
Chr11:76867068 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3503+17G>A single nucleotide variant not provided [RCV000367619] Chr11:77184732 [GRCh38]
Chr11:76895777 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5169-6C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111486]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111487]|Usher syndrome type 1 [RCV001111485]|Usher syndrome type 1B [RCV001272805]|not provided [RCV000726176]|not specified [RCV000403454] Chr11:77203054 [GRCh38]
Chr11:76914099 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2427G>T (p.Gln809His) single nucleotide variant Usher syndrome type 1B [RCV001833365]|not provided [RCV000297470] Chr11:77179794 [GRCh38]
Chr11:76890840 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*101G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000372009]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000279885]|Usher syndrome type 1 [RCV000333815] Chr11:77214797 [GRCh38]
Chr11:76925842 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000280029]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000372154]|Usher syndrome type 1 [RCV000323433] Chr11:77192244 [GRCh38]
Chr11:76903289 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5536C>G (p.Pro1846Ala) single nucleotide variant Usher syndrome type 1B [RCV001834585]|not provided [RCV000489106] Chr11:77205517 [GRCh38]
Chr11:76916562 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.578C>A (p.Thr193Asn) single nucleotide variant Usher syndrome type 1B [RCV001278607] Chr11:77156767 [GRCh38]
Chr11:76867813 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002493493]|Usher syndrome type 1B [RCV001279400]|not provided [RCV001587313] Chr11:77179128 [GRCh38]
Chr11:76890174 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.388A>G (p.Met130Val) single nucleotide variant Usher syndrome type 1B [RCV001829399]|not provided [RCV000489594] Chr11:77156009 [GRCh38]
Chr11:76867055 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys) single nucleotide variant Inborn genetic diseases [RCV003166607]|Usher syndrome type 1B [RCV001279401]|not provided [RCV001551981] Chr11:77179738 [GRCh38]
Chr11:76890784 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4953C>G (p.Gly1651=) single nucleotide variant Usher syndrome type 1B [RCV001279806] Chr11:77201548 [GRCh38]
Chr11:76912593 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2695-145A>T single nucleotide variant not provided [RCV001566149] Chr11:77181235 [GRCh38]
Chr11:76892281 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4664C>A (p.Ser1555Tyr) single nucleotide variant not provided [RCV000487681] Chr11:77199630 [GRCh38]
Chr11:76910675 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4153-71C>T single nucleotide variant not provided [RCV001574999] Chr11:77194283 [GRCh38]
Chr11:76905328 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) single nucleotide variant Inborn genetic diseases [RCV002532383]|Usher syndrome type 1B [RCV001835862]|not provided [RCV000726712]|not specified [RCV000597975] Chr11:77182084 [GRCh38]
Chr11:76893130 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4324-86C>T single nucleotide variant not provided [RCV001575214] Chr11:77197395 [GRCh38]
Chr11:76908440 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4568+21A>T single nucleotide variant not provided [RCV001548540] Chr11:77198642 [GRCh38]
Chr11:76909687 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3090C>T (p.Asp1030=) single nucleotide variant Usher syndrome type 1B [RCV001279412]|not provided [RCV001398489] Chr11:77182136 [GRCh38]
Chr11:76893182 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5899C>G (p.Arg1967Gly) single nucleotide variant Usher syndrome type 1B [RCV001277332]|not provided [RCV002541659] Chr11:77208472 [GRCh38]
Chr11:76919517 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6441T>C (p.Asp2147=) single nucleotide variant Usher syndrome type 1B [RCV001277342]|not provided [RCV002069397] Chr11:77213862 [GRCh38]
Chr11:76924907 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp) single nucleotide variant Usher syndrome type 1B [RCV001277328] Chr11:77207317 [GRCh38]
Chr11:76918362 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578632]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002501934]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578633]|Usher syndrome type 1 [RCV001578634] Chr11:77179769 [GRCh38]
Chr11:76890815 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.843G>A (p.Leu281=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578778]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578779]|Usher syndrome type 1 [RCV001578780]|not provided [RCV002570816] Chr11:77157386 [GRCh38]
Chr11:76868432 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6002C>T (p.Thr2001Met) single nucleotide variant Usher syndrome type 1B [RCV001272819]|not provided [RCV000489999] Chr11:77208754 [GRCh38]
Chr11:76919799 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5159A>T (p.Asp1720Val) single nucleotide variant not provided [RCV003238957] Chr11:77202415 [GRCh38]
Chr11:76913460 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1175T>C (p.Leu392Pro) single nucleotide variant Usher syndrome type 1B [RCV001278611] Chr11:77160257 [GRCh38]
Chr11:76871303 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4192G>A (p.Val1398Ile) single nucleotide variant not provided [RCV000596625] Chr11:77194393 [GRCh38]
Chr11:76905438 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.398A>C (p.His133Pro) single nucleotide variant not provided [RCV000291756] Chr11:77156019 [GRCh38]
Chr11:76867065 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000334037]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000293070]|Usher syndrome type 1 [RCV000387359]|not provided [RCV001499006] Chr11:77207366 [GRCh38]
Chr11:76918411 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.-20G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000396991]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000358921]|Usher syndrome type 1 [RCV000305411] Chr11:77130615 [GRCh38]
Chr11:76841661 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000393098]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000305655]|Usher syndrome type 1 [RCV000342085]|not provided [RCV000983621] Chr11:77202344 [GRCh38]
Chr11:76913389 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.-170C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000294597]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000387405]|Usher syndrome type 1 [RCV000330554] Chr11:77128366 [GRCh38]
Chr11:76839412 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*208C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000306456]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002480113]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000407180]|Usher syndrome type 1 [RCV000340901] Chr11:77214904 [GRCh38]
Chr11:76925949 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.500G>C (p.Ser167Thr) single nucleotide variant not provided [RCV000386572] Chr11:77156689 [GRCh38]
Chr11:76867735 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000285555]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000403334]|Usher syndrome type 1 [RCV000342500] Chr11:77147821 [GRCh38]
Chr11:76858867 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.3(MYO7A):c.*560C>T single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000266546]|Nonsyndromic Hearing Loss, Recessive [RCV000320271]|Retinitis pigmentosa-deafness syndrome [RCV000358952]|not provided [RCV001786387] Chr11:77215256 [GRCh38]
Chr11:76926301 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001198157]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000668877]|Rare genetic deafness [RCV000610416]|Usher syndrome type 1B [RCV001834916]|not provided [RCV001090420] Chr11:77142742 [GRCh38]
Chr11:76853788 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000338491]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000397773]|Usher syndrome type 1 [RCV000298666]|Usher syndrome type 1B [RCV001279397]|not provided [RCV002520771] Chr11:77175423 [GRCh38]
Chr11:76886469 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.3(MYO7A):c.*546C>T single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000364609]|Nonsyndromic Hearing Loss, Recessive [RCV000272212]|Retinitis pigmentosa-deafness syndrome [RCV000307570]|not provided [RCV001840498] Chr11:77215242 [GRCh38]
Chr11:76926287 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000396773]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000348805]|Usher syndrome type 1 [RCV000299728] Chr11:77156760 [GRCh38]
Chr11:76867806 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1056G>A (p.Leu352=) single nucleotide variant not provided [RCV000342465] Chr11:77159499 [GRCh38]
Chr11:76870545 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) duplication Inborn genetic diseases [RCV000622289]|Retinal dystrophy [RCV001075145]|Usher syndrome type 1 [RCV001002727]|Usher syndrome type 1B [RCV001272493]|not provided [RCV001224052] Chr11:77162914..77162915 [GRCh38]
Chr11:76873960..76873961 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg) single nucleotide variant Retinal dystrophy [RCV001074974]|Usher syndrome type 1B [RCV001829663]|not provided [RCV000591647] Chr11:77208517 [GRCh38]
Chr11:76919562 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) single nucleotide variant Usher syndrome type 1B [RCV001279395]|not provided [RCV000591799] Chr11:77175374 [GRCh38]
Chr11:76886420 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111676]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111675]|Usher syndrome type 1 [RCV001111677]|not provided [RCV001454263]|not specified [RCV000603293] Chr11:77206125 [GRCh38]
Chr11:76917170 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2836A>C (p.Met946Leu) single nucleotide variant Usher syndrome type 1B [RCV001834949]|not provided [RCV002528769]|not specified [RCV000603317] Chr11:77181521 [GRCh38]
Chr11:76892567 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4568+13G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001108925]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001108924]|Usher syndrome type 1 [RCV001108926]|not provided [RCV002062135]|not specified [RCV000607058] Chr11:77198634 [GRCh38]
Chr11:76909679 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4225del (p.Leu1409fs) deletion not provided [RCV000592656] Chr11:77194425 [GRCh38]
Chr11:76905470 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002483646]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000670848]|Usher syndrome type 1B [RCV001829681]|not provided [RCV000592682] Chr11:77182449 [GRCh38]
Chr11:76893494 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.285+2T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000988600]|Rare genetic deafness [RCV000613318]|not provided [RCV000578756] Chr11:77147952 [GRCh38]
Chr11:76858998 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2827G>A (p.Val943Met) single nucleotide variant not provided [RCV000598505] Chr11:77181512 [GRCh38]
Chr11:76892558 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=) single nucleotide variant not provided [RCV000598443] Chr11:77201599 [GRCh38]
Chr11:76912644 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1353_1360del (p.Gln451fs) deletion not provided [RCV000599564] Chr11:77162126..77162133 [GRCh38]
Chr11:76873172..76873179 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) single nucleotide variant not provided [RCV000599567] Chr11:77172770 [GRCh38]
Chr11:76883816 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6027C>T (p.Ala2009=) single nucleotide variant not provided [RCV000932491]|not specified [RCV000604122] Chr11:77208779 [GRCh38]
Chr11:76919824 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=) single nucleotide variant not provided [RCV000593793] Chr11:77160981 [GRCh38]
Chr11:76872027 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser) single nucleotide variant Usher syndrome type 1B [RCV001276697]|not provided [RCV000585238]|not specified [RCV000608684] Chr11:77182472 [GRCh38]
Chr11:76893517 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109569]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109568]|Usher syndrome type 1 [RCV001109570]|not provided [RCV000841846]|not specified [RCV000599993] Chr11:77156887 [GRCh38]
Chr11:76867933 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002480266]|Usher syndrome type 1 [RCV001526422]|Usher syndrome type 1B [RCV001828385]|not provided [RCV001304904]|not specified [RCV000414725] Chr11:77211336 [GRCh38]
Chr11:76922381 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4920C>T (p.Gly1640=) single nucleotide variant not provided [RCV001564655] Chr11:77201515 [GRCh38]
Chr11:76912560 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=) single nucleotide variant not provided [RCV000731186] Chr11:77174908 [GRCh38]
Chr11:76885954 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000411572]|Rare genetic deafness [RCV000844718]|Usher syndrome type 1 [RCV000410053]|Usher syndrome type 1B [RCV001828377]|not provided [RCV001383210] Chr11:77179085 [GRCh38]
Chr11:76890131 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578728]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578729]|Usher syndrome type 1 [RCV001578768]|not provided [RCV000415923] Chr11:77211303 [GRCh38]
Chr11:76922348 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3595G>A (p.Val1199Met) single nucleotide variant not provided [RCV000733211] Chr11:77189435 [GRCh38]
Chr11:76900480 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr) single nucleotide variant not provided [RCV000416022] Chr11:77189442 [GRCh38]
Chr11:76900487 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs) microsatellite Usher syndrome type 2 [RCV001199710]|not provided [RCV000416054] Chr11:77147799..77147800 [GRCh38]
Chr11:76858845..76858846 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114382]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114381]|Usher syndrome type 1 [RCV001114380]|not provided [RCV000416139] Chr11:77190112 [GRCh38]
Chr11:76901157 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109459]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109460]|Usher syndrome type 1 [RCV001109461]|not provided [RCV000416261] Chr11:77207318 [GRCh38]
Chr11:76918363 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4973A>G (p.Gln1658Arg) single nucleotide variant not provided [RCV000734149] Chr11:77201568 [GRCh38]
Chr11:76912613 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000763280]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000670142]|not provided [RCV000413055] Chr11:77190113 [GRCh38]
Chr11:76901158 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4313C>T (p.Ala1438Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000790511]|not provided [RCV002536923] Chr11:77194514 [GRCh38]
Chr11:76905559 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4074del (p.Glu1359fs) deletion not provided [RCV000413681] Chr11:77192199 [GRCh38]
Chr11:76903244 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1555-8C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667896]|not provided [RCV000413907] Chr11:77162845 [GRCh38]
Chr11:76873891 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5636+2T>A single nucleotide variant not provided [RCV000414092] Chr11:77205619 [GRCh38]
Chr11:76916664 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000671853]|Hearing loss, autosomal recessive [RCV001291099]|Usher syndrome [RCV000504720]|not provided [RCV001383415] Chr11:77199804 [GRCh38]
Chr11:76910849 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) single nucleotide variant Usher syndrome [RCV000504875]|not provided [RCV001390810] Chr11:77155945 [GRCh38]
Chr11:76866991 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) single nucleotide variant Usher syndrome [RCV000504907]|not provided [RCV001857218] Chr11:77213972 [GRCh38]
Chr11:76925017 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670176]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000681537]|Hearing loss, autosomal recessive [RCV001291471]|Usher syndrome [RCV000504967] Chr11:77172799 [GRCh38]
Chr11:76883845 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs) duplication Usher syndrome [RCV000505053] Chr11:77142707..77142708 [GRCh38]
Chr11:76853753..76853754 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670174]|Usher syndrome [RCV000505067]|not provided [RCV001047383] Chr11:77189386 [GRCh38]
Chr11:76900431 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666535]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001542592]|Usher syndrome [RCV000505169]|Usher syndrome type 1B [RCV001829440]|not provided [RCV001380427] Chr11:77156990 [GRCh38]
Chr11:76868036 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) single nucleotide variant Usher syndrome type 1 [RCV000505567]|not provided [RCV001229028] Chr11:77162125 [GRCh38]
Chr11:76873171 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.4153-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000454153]|not provided [RCV001861651] Chr11:77194352 [GRCh38]
Chr11:76905397 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000454181]|not provided [RCV002522745] Chr11:77211311 [GRCh38]
Chr11:76922356 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000454216]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000674950]|Usher syndrome type 1 [RCV001003090]|not provided [RCV002522744] Chr11:77211296 [GRCh38]
Chr11:76922341 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000454276]|Usher syndrome [RCV003235215]|not provided [RCV000520963] Chr11:77213908 [GRCh38]
Chr11:76924953 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000454349]|Usher syndrome type 1 [RCV001003086]|not provided [RCV001043738] Chr11:77179069 [GRCh38]
Chr11:76890115 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.565_566del (p.Val189fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000449499] Chr11:77156754..77156755 [GRCh38]
Chr11:76867800..76867801 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.849+5G>A single nucleotide variant Usher syndrome type 1 [RCV000449574]|not provided [RCV001291561] Chr11:77157397 [GRCh38]
Chr11:76868443 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665055]|Usher syndrome type 1B [RCV001273495]|not provided [RCV000421377]|not specified [RCV000825981] Chr11:77192144 [GRCh38]
Chr11:76903189 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5945-4G>A single nucleotide variant not provided [RCV002062415]|not specified [RCV000443857] Chr11:77208693 [GRCh38]
Chr11:76919738 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1871C>A (p.Thr624Lys) single nucleotide variant not provided [RCV000423441] Chr11:77172821 [GRCh38]
Chr11:76883867 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) single nucleotide variant Usher syndrome [RCV000504890]|not provided [RCV000482515] Chr11:77190117 [GRCh38]
Chr11:76901162 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3064_3067del (p.Leu1022fs) deletion not provided [RCV000484218] Chr11:77182108..77182111 [GRCh38]
Chr11:76893154..76893157 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1563del (p.Asp521fs) deletion Hearing loss [RCV001270108]|Retinal dystrophy [RCV001073399]|not provided [RCV000484743] Chr11:77162861 [GRCh38]
Chr11:76873907 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2219G>C (p.Arg740Pro) single nucleotide variant not provided [RCV000478341] Chr11:77177580 [GRCh38]
Chr11:76888626 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.285+1G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672808]|not provided [RCV000478716] Chr11:77147951 [GRCh38]
Chr11:76858997 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs) duplication not provided [RCV000485760] Chr11:77155955..77155956 [GRCh38]
Chr11:76867001..76867002 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met) single nucleotide variant not provided [RCV000482590]|not specified [RCV000825982] Chr11:77201511 [GRCh38]
Chr11:76912556 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112406]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112405]|Usher syndrome type 1 [RCV001112407]|Usher syndrome type 1B [RCV001275538]|not provided [RCV000497657] Chr11:77213930 [GRCh38]
Chr11:76924975 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_001127179.2(MYO7A):c.3514_3535del22 (p.Gly1172Glufs) deletion not specified [RCV000494468] Chr11:77184726..77184747 [GRCh38]
Chr11:76895771..76895792 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2558G>T (p.Arg853Leu) single nucleotide variant not provided [RCV000492840] Chr11:77179925 [GRCh38]
Chr11:76890971 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1652T>C (p.Ile551Thr) single nucleotide variant not provided [RCV000493265] Chr11:77162950 [GRCh38]
Chr11:76873996 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4281G>A (p.Thr1427=) single nucleotide variant not provided [RCV000927789]|not specified [RCV000508049] Chr11:77194482 [GRCh38]
Chr11:76905527 [GRCh37]
Chr11:11q13.5
likely benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669350]|not provided [RCV001861776] Chr11:77181563 [GRCh38]
Chr11:76892609 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000670271] Chr11:77155934 [GRCh38]
Chr11:76866980 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.133-7_146dup duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000670343] Chr11:77147787..77147788 [GRCh38]
Chr11:76858833..76858834 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000670356] Chr11:77199541 [GRCh38]
Chr11:76910586 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3630+7A>G single nucleotide variant not provided [RCV001433744]|not specified [RCV000600924] Chr11:77189477 [GRCh38]
Chr11:76900522 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000669035]|not provided [RCV001861772] Chr11:77208457..77208460 [GRCh38]
Chr11:76919502..76919505 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001334338]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000669072]|Autosomal recessive nonsyndromic hearing loss 2 [RCV003152610]|Usher syndrome type 1 [RCV003155267]|not provided [RCV001855514] Chr11:77205491 [GRCh38]
Chr11:76916536 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670034] Chr11:77190090 [GRCh38]
Chr11:76901135 [GRCh37]
Chr11:11q13.5
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000260.4(MYO7A):c.4735G>A (p.Glu1579Lys) single nucleotide variant Usher syndrome type 1B [RCV001834919]|not provided [RCV002532729]|not specified [RCV000602682] Chr11:77199701 [GRCh38]
Chr11:76910746 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002483679]|Usher syndrome type 1B [RCV001276680]|not provided [RCV001201549]|not specified [RCV000601443] Chr11:77172764 [GRCh38]
Chr11:76883810 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2348G>A (p.Cys783Tyr) single nucleotide variant not provided [RCV000594068] Chr11:77179110 [GRCh38]
Chr11:76890156 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6264C>T (p.His2088=) single nucleotide variant not provided [RCV001476971]|not specified [RCV000600993] Chr11:77211847 [GRCh38]
Chr11:76922892 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3213G>T (p.Met1071Ile) single nucleotide variant Inborn genetic diseases [RCV003257648] Chr11:77182528 [GRCh38]
Chr11:76893573 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6054G>A (p.Glu2018=) single nucleotide variant not provided [RCV001471785]|not specified [RCV000599900] Chr11:77211154 [GRCh38]
Chr11:76922199 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000626134]|Usher syndrome type 1B [RCV001834981]|not provided [RCV001350027] Chr11:77156060 [GRCh38]
Chr11:76867106 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002485557]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000672010]|not provided [RCV001245615] Chr11:77189450 [GRCh38]
Chr11:76900495 [GRCh37]
Chr11:11q13.5
pathogenic|uncertain significance
NM_000260.4(MYO7A):c.2039A>G (p.Glu680Gly) single nucleotide variant not specified [RCV000607306] Chr11:77174859 [GRCh38]
Chr11:76885905 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.470+6C>A single nucleotide variant not provided [RCV001860328]|not specified [RCV000607403] Chr11:77156097 [GRCh38]
Chr11:76867143 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109458]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111771]|Usher syndrome type 1 [RCV001111770]|not provided [RCV000838487]|not specified [RCV000602298] Chr11:77156675 [GRCh38]
Chr11:76867721 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2237A>C (p.Asp746Ala) single nucleotide variant Inborn genetic diseases [RCV003280470] Chr11:77177598 [GRCh38]
Chr11:76888644 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5748C>T (p.Phe1916=) single nucleotide variant not provided [RCV001445437]|not specified [RCV000615072] Chr11:77207294 [GRCh38]
Chr11:76918339 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3656G>T (p.Gly1219Val) single nucleotide variant not provided [RCV001868088]|not specified [RCV000615073] Chr11:77190045 [GRCh38]
Chr11:76901090 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.205G>A (p.Asp69Asn) single nucleotide variant Inborn genetic diseases [RCV003280217] Chr11:77147870 [GRCh38]
Chr11:76858916 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1239G>A (p.Lys413=) single nucleotide variant not provided [RCV000941852]|not specified [RCV000615180] Chr11:77161011 [GRCh38]
Chr11:76872057 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114662]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114660]|Usher syndrome type 1 [RCV001114661]|not provided [RCV001584408]|not specified [RCV000615222] Chr11:77199694 [GRCh38]
Chr11:76910739 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2928G>A (p.Glu976=) single nucleotide variant not provided [RCV001427414]|not specified [RCV000601343] Chr11:77181974 [GRCh38]
Chr11:76893020 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu) single nucleotide variant Usher syndrome type 1B [RCV001276683]|not provided [RCV001228041]|not specified [RCV000615722] Chr11:77174804 [GRCh38]
Chr11:76885850 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5243C>T (p.Thr1748Met) single nucleotide variant MYO7A-related condition [RCV003424169]|not provided [RCV002529323]|not specified [RCV000612824] Chr11:77203134 [GRCh38]
Chr11:76914179 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1343+8G>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113755]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113756]|Usher syndrome type 1 [RCV001113754]|not provided [RCV001467210]|not specified [RCV000601954] Chr11:77161123 [GRCh38]
Chr11:76872169 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1798-11C>T single nucleotide variant not provided [RCV001421237]|not specified [RCV000610295] Chr11:77172737 [GRCh38]
Chr11:76883783 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110610]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110608]|Nonsyndromic genetic hearing loss [RCV000710344]|Usher syndrome type 1 [RCV001110609]|Usher syndrome type 1B [RCV001272496]|not provided [RCV001043882]|not specified [RCV000613132] Chr11:77172767 [GRCh38]
Chr11:76883813 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg) single nucleotide variant Usher syndrome type 1 [RCV001249570]|Usher syndrome type 1B [RCV001834927]|not provided [RCV001755987]|not specified [RCV000616248] Chr11:77201573 [GRCh38]
Chr11:76912618 [GRCh37]
Chr11:11q13.5
uncertain significance|not provided
NM_000260.4(MYO7A):c.2094+8G>A single nucleotide variant not provided [RCV002062140]|not specified [RCV000610573] Chr11:77174922 [GRCh38]
Chr11:76885968 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000765016]|Usher syndrome type 1B [RCV001271754]|not provided [RCV001860342]|not specified [RCV000610587] Chr11:77192069 [GRCh38]
Chr11:76903114 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110262]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110263]|Usher syndrome type 1 [RCV001110264]|Usher syndrome type 1B [RCV001835874]|not provided [RCV001241943]|not specified [RCV000613382] Chr11:77189376 [GRCh38]
Chr11:76900421 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6384C>T (p.Ile2128=) single nucleotide variant not provided [RCV001410848]|not specified [RCV000608067] Chr11:77212981 [GRCh38]
Chr11:76924026 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1617C>G (p.Ile539Met) single nucleotide variant Usher syndrome type 1B [RCV001834951]|not specified [RCV000608125] Chr11:77162915 [GRCh38]
Chr11:76873961 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1555-5C>T single nucleotide variant not specified [RCV000613522] Chr11:77162848 [GRCh38]
Chr11:76873894 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.612C>A (p.Thr204=) single nucleotide variant not specified [RCV000608276] Chr11:77156881 [GRCh38]
Chr11:76867927 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6339C>A (p.Ala2113=) single nucleotide variant not provided [RCV001459122]|not specified [RCV000608360] Chr11:77211922 [GRCh38]
Chr11:76922967 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669244]|Usher syndrome type 1B [RCV001829662]|not provided [RCV000595488] Chr11:77156767 [GRCh38]
Chr11:76867813 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.133-6C>T single nucleotide variant not provided [RCV001239538] Chr11:77147792 [GRCh38]
Chr11:76858838 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys) single nucleotide variant not provided [RCV001860241]|not specified [RCV000606605] Chr11:77158331 [GRCh38]
Chr11:76869377 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met) single nucleotide variant Inborn genetic diseases [RCV002528788]|Usher syndrome type 1B [RCV001834958]|not specified [RCV000608638] Chr11:77190782 [GRCh38]
Chr11:76901827 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1374T>G (p.Asn458Lys) single nucleotide variant not provided [RCV001294801]|not specified [RCV000611363] Chr11:77162150 [GRCh38]
Chr11:76873196 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6475A>G (p.Asn2159Asp) single nucleotide variant Usher syndrome type 1B [RCV001829712]|not specified [RCV000611400] Chr11:77213896 [GRCh38]
Chr11:76924941 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3503+9C>T single nucleotide variant not provided [RCV000927420]|not specified [RCV000614173] Chr11:77184724 [GRCh38]
Chr11:76895769 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.5480+10G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112057]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112058]|Usher syndrome type 1 [RCV001112056]|not provided [RCV000594036] Chr11:77204239 [GRCh38]
Chr11:76915284 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5857-7A>C single nucleotide variant not specified [RCV000608823] Chr11:77208423 [GRCh38]
Chr11:76919468 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3583G>A (p.Val1195Met) single nucleotide variant not provided [RCV002529350]|not specified [RCV000611507] Chr11:77189423 [GRCh38]
Chr11:76900468 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1555-15C>T single nucleotide variant not provided [RCV002065198]|not specified [RCV000611743] Chr11:77162838 [GRCh38]
Chr11:76873884 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002483670]|Usher syndrome type 1B [RCV001272815]|not provided [RCV001351961]|not specified [RCV000614677] Chr11:77206101 [GRCh38]
Chr11:76917146 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe) single nucleotide variant Inborn genetic diseases [RCV003160069]|Usher syndrome type 1B [RCV001272501]|not provided [RCV002529340]|not specified [RCV000614683] Chr11:77177609 [GRCh38]
Chr11:76888655 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) single nucleotide variant Deafness [RCV000679827]|Hearing loss, autosomal recessive [RCV001291098]|Usher syndrome type 1B [RCV001834957]|not provided [RCV001091734]|not specified [RCV000604476] Chr11:77198558 [GRCh38]
Chr11:76909603 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.6267A>G (p.Ala2089=) single nucleotide variant not provided [RCV001446413]|not specified [RCV000609235] Chr11:77211850 [GRCh38]
Chr11:76922895 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV003155246]|Usher syndrome type 1B [RCV001829700]|not provided [RCV002307559]|not specified [RCV000599670] Chr11:77214670 [GRCh38]
Chr11:76925715 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) single nucleotide variant Retinal dystrophy [RCV001075326]|Usher syndrome type 1B [RCV001274691]|not provided [RCV000730421]|not specified [RCV000604529] Chr11:77156883 [GRCh38]
Chr11:76867929 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) single nucleotide variant Usher syndrome type 1B [RCV001829671]|not provided [RCV000595803] Chr11:77161071 [GRCh38]
Chr11:76872117 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670160] Chr11:77179123 [GRCh38]
Chr11:76890169 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) single nucleotide variant Usher syndrome type 1B [RCV001834923]|not provided [RCV000992402]|not specified [RCV000600345] Chr11:77181444 [GRCh38]
Chr11:76892490 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4222C>T (p.Arg1408Cys) single nucleotide variant Usher syndrome type 1 [RCV001839013]|Usher syndrome type 1B [RCV001829649]|not provided [RCV000594875] Chr11:77194423 [GRCh38]
Chr11:76905468 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.133G>T (p.Glu45Ter) single nucleotide variant not provided [RCV000597639] Chr11:77147798 [GRCh38]
Chr11:76858844 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1690+15C>T single nucleotide variant not provided [RCV002062144]|not specified [RCV000600785] Chr11:77163003 [GRCh38]
Chr11:76874049 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5339A>C (p.Tyr1780Ser) single nucleotide variant Inborn genetic diseases [RCV000622287] Chr11:77204088 [GRCh38]
Chr11:76915133 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del) microsatellite Autosomal recessive nonsyndromic hearing loss 2 [RCV000673400]|not provided [RCV002464287] Chr11:77192157..77192159 [GRCh38]
Chr11:76903202..76903204 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1797+8G>A single nucleotide variant not provided [RCV001490227]|not specified [RCV000601404] Chr11:77166170 [GRCh38]
Chr11:76877216 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.639C>T (p.Phe213=) single nucleotide variant Usher syndrome type 1B [RCV001834955]|not provided [RCV000941378]|not specified [RCV000601684] Chr11:77156908 [GRCh38]
Chr11:76867954 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000671947] Chr11:77162882..77162883 [GRCh38]
Chr11:76873928..76873929 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000672007]|not provided [RCV002532120] Chr11:77203150 [GRCh38]
Chr11:76914195 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000672154] Chr11:77192118..77192132 [GRCh38]
Chr11:76903163..76903177 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del) microsatellite Autosomal recessive nonsyndromic hearing loss 2 [RCV000672831]|not provided [RCV001855585] Chr11:77197495..77197497 [GRCh38]
Chr11:76908540..76908542 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.117_132+6del deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000672865] Chr11:77142805..77142826 [GRCh38]
Chr11:76853851..76853872 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs) microsatellite Autosomal recessive nonsyndromic hearing loss 2 [RCV000673007] Chr11:77208706..77208707 [GRCh38]
Chr11:76919751..76919752 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2386C>T (p.Arg796Trp) single nucleotide variant Hearing impairment [RCV001375469]|not provided [RCV000658618] Chr11:77179753 [GRCh38]
Chr11:76890799 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000671977] Chr11:77194496 [GRCh38]
Chr11:76905541 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000664644]|not provided [RCV001861737] Chr11:77179828 [GRCh38]
Chr11:76890874 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000673384] Chr11:77213027 [GRCh38]
Chr11:76924072 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002485553]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000670895]|Hearing loss, autosomal recessive [RCV001291468]|Nonsyndromic genetic hearing loss [RCV001261013]|Usher syndrome type 1B [RCV001829868]|not provided [RCV001067075] Chr11:77160265 [GRCh38]
Chr11:76871311 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000672591]|not provided [RCV001388427] Chr11:77205611 [GRCh38]
Chr11:76916656 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000671222]|not provided [RCV001855555] Chr11:77205541 [GRCh38]
Chr11:76916586 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4442-1G>C single nucleotide variant Hearing impairment [RCV001375470]|not provided [RCV000658619] Chr11:77198494 [GRCh38]
Chr11:76909539 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1343+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000664858] Chr11:77161116 [GRCh38]
Chr11:76872162 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000664883]|not provided [RCV001855433] Chr11:77199802..77199803 [GRCh38]
Chr11:76910847..76910848 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673509] Chr11:77160254 [GRCh38]
Chr11:76871300 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.54G>C (p.Gln18His) single nucleotide variant Usher syndrome type 1B [RCV001835061]|not provided [RCV000658025] Chr11:77142744 [GRCh38]
Chr11:76853790 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000669030] Chr11:77199792..77199793 [GRCh38]
Chr11:76910837..76910838 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3504-1G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670122]|not provided [RCV001855536] Chr11:77189343 [GRCh38]
Chr11:76900388 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000670858]|not provided [RCV001243996] Chr11:77199608 [GRCh38]
Chr11:76910653 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.133-2A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000671042] Chr11:77147796 [GRCh38]
Chr11:76858842 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.285+2T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002485549]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000669696]|Usher syndrome type 1 [RCV001003079]|not provided [RCV000823085] Chr11:77147952 [GRCh38]
Chr11:76858998 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002499178]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000671459] Chr11:77189434 [GRCh38]
Chr11:76900479 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000671875] Chr11:77199808 [GRCh38]
Chr11:76910853 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000671898]|not provided [RCV002531299] Chr11:77205523 [GRCh38]
Chr11:76916568 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673613] Chr11:77190870 [GRCh38]
Chr11:76901915 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000670000] Chr11:77211932 [GRCh38]
Chr11:76922977 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673822] Chr11:77155939 [GRCh38]
Chr11:76866985 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002507154]|Usher syndrome type 1 [RCV001810468]|Usher syndrome type 1B [RCV001275533]|not provided [RCV001043905] Chr11:77211335 [GRCh38]
Chr11:76922380 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2283-2_2293del deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000666719]|not provided [RCV002532055] Chr11:77179039..77179051 [GRCh38]
Chr11:76890085..76890097 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6238-2A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666730]|not provided [RCV001855465] Chr11:77211819 [GRCh38]
Chr11:76922864 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112401]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000667999]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111948]|Usher syndrome type 1 [RCV001111949]|not provided [RCV002530732]|not specified [RCV003323668] Chr11:77160224 [GRCh38]
Chr11:76871270 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000668040] Chr11:77162873..77162890 [GRCh38]
Chr11:76873919..76873936 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4445C>T (p.Pro1482Leu) single nucleotide variant Usher syndrome type 1B [RCV001828626]|not provided [RCV001202713] Chr11:77198498 [GRCh38]
Chr11:76909543 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674032]|Usher syndrome type 1B [RCV001830461]|not provided [RCV001315657] Chr11:77190743 [GRCh38]
Chr11:76901788 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665547]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000770843]|not provided [RCV001868204] Chr11:77189416 [GRCh38]
Chr11:76900461 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000668444]|Usher syndrome [RCV003235337]|Usher syndrome type 1 [RCV003106015]|Usher syndrome type 1B [RCV001835089]|not provided [RCV001378983] Chr11:77156676 [GRCh38]
Chr11:76867722 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) indel Autosomal recessive nonsyndromic hearing loss 2 [RCV000671534] Chr11:77192144 [GRCh38]
Chr11:76903189 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1691-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672185] Chr11:77166054 [GRCh38]
Chr11:76877100 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Phe1009_Gln1010insLeuHisProValVal) insertion Autosomal recessive nonsyndromic hearing loss 2 [RCV000665592] Chr11:77182071..77182072 [GRCh38]
Chr11:76893117..76893118 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002493086]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665822]|not provided [RCV002532047] Chr11:77202321 [GRCh38]
Chr11:76913366 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000668615]|not provided [RCV001383044] Chr11:77147888..77147889 [GRCh38]
Chr11:76858934..76858935 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002477494]|Retinal dystrophy [RCV001075552]|Usher syndrome type 1 [RCV001810472]|not provided [RCV000812299] Chr11:77160272 [GRCh38]
Chr11:76871318 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1935+1G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665847] Chr11:77172886 [GRCh38]
Chr11:76883932 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000763276]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000674391]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001004800]|not provided [RCV001854837] Chr11:77174789 [GRCh38]
Chr11:76885835 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000674582] Chr11:77199625..77199626 [GRCh38]
Chr11:76910670..76910671 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000666902] Chr11:77192165 [GRCh38]
Chr11:76903210 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2339del (p.Gly780fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000681547]|Hearing loss, autosomal recessive [RCV001291472] Chr11:77179098 [GRCh38]
Chr11:76890144 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000681546]|Hearing loss, autosomal recessive [RCV001291097] Chr11:77190117 [GRCh38]
Chr11:76901162 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000681538]|Hearing loss, autosomal recessive [RCV001291461]|not provided [RCV001212886] Chr11:77142710 [GRCh38]
Chr11:76853756 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672842] Chr11:77213899 [GRCh38]
Chr11:76924944 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000673005] Chr11:77203119 [GRCh38]
Chr11:76914164 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002507176]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000673133]|Usher syndrome type 1 [RCV001003089]|Usher syndrome type 1B [RCV001835911]|not provided [RCV001381202] Chr11:77205562 [GRCh38]
Chr11:76916607 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000664572]|not provided [RCV000813222] Chr11:77142737 [GRCh38]
Chr11:76853783 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000674688] Chr11:77190761..77190768 [GRCh38]
Chr11:76901806..76901813 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6051+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674779]|not provided [RCV001228076] Chr11:77208804 [GRCh38]
Chr11:76919849 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667248]|not provided [RCV002530709] Chr11:77156018 [GRCh38]
Chr11:76867064 [GRCh37]
Chr11:11q13.5
pathogenic|uncertain significance
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000669802]|not provided [RCV001868236] Chr11:77160271 [GRCh38]
Chr11:76871317 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673719] Chr11:77183092 [GRCh38]
Chr11:76894137 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3504-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673745] Chr11:77189342 [GRCh38]
Chr11:76900387 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665101] Chr11:77192155 [GRCh38]
Chr11:76903200 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5043+1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673825]|not provided [RCV002532154] Chr11:77201639 [GRCh38]
Chr11:76912684 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000674024]|not provided [RCV001067344] Chr11:77192233..77192236 [GRCh38]
Chr11:76903278..76903281 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1798-3C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665408] Chr11:77172745 [GRCh38]
Chr11:76883791 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.471-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673992]|not provided [RCV001868273] Chr11:77156659 [GRCh38]
Chr11:76867705 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000671346] Chr11:77147861..77147875 [GRCh38]
Chr11:76858907..76858921 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000671432]|not provided [RCV001531118] Chr11:77203068 [GRCh38]
Chr11:76914113 [GRCh37]
Chr11:11q13.5
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3631-1G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000671701]|not provided [RCV001236089] Chr11:77190019 [GRCh38]
Chr11:76901064 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672578]|not provided [RCV001242938] Chr11:77207402 [GRCh38]
Chr11:76918447 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674372] Chr11:77207299 [GRCh38]
Chr11:76918344 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000670888] Chr11:77201606 [GRCh38]
Chr11:76912651 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1798-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674069]|not provided [RCV001379546] Chr11:77172747 [GRCh38]
Chr11:76883793 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3924+1G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674211]|not provided [RCV001385690] Chr11:77190871 [GRCh38]
Chr11:76901916 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5168+2T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674217]|not provided [RCV001206652] Chr11:77202426 [GRCh38]
Chr11:76913471 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000667646]|not provided [RCV001237674] Chr11:77194452 [GRCh38]
Chr11:76905497 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667691] Chr11:77211320 [GRCh38]
Chr11:76922365 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000763282]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666120]|Usher syndrome [RCV003389476]|Usher syndrome type 1B [RCV001835074]|not provided [RCV001038543] Chr11:77192243 [GRCh38]
Chr11:76903288 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.18+2T>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674636]|not provided [RCV001855611] Chr11:77130654 [GRCh38]
Chr11:76841700 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.133-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000012628]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000671659]|MYO7A-Related Disorders [RCV001269086]|Usher syndrome type 1B [RCV001830451]|not provided [RCV001383043] Chr11:77147796 [GRCh38]
Chr11:76858842 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674375]|not provided [RCV002544671] Chr11:77184609 [GRCh38]
Chr11:76895654 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667980]|not provided [RCV002060816] Chr11:77181409 [GRCh38]
Chr11:76892455 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000668185] Chr11:77201488 [GRCh38]
Chr11:76912533 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001334333]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000673329] Chr11:77189400 [GRCh38]
Chr11:76900445 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5857-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000671897]|not provided [RCV002531298] Chr11:77208428 [GRCh38]
Chr11:76919473 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4569-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674728]|not provided [RCV001861848] Chr11:77199534 [GRCh38]
Chr11:76910579 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000668360] Chr11:77213878 [GRCh38]
Chr11:76924923 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000668455] Chr11:77205488 [GRCh38]
Chr11:76916533 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000668486]|Hearing loss, autosomal recessive [RCV001291470]|not provided [RCV002531200] Chr11:77162889 [GRCh38]
Chr11:76873935 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000666761]|not provided [RCV001389587] Chr11:77192150 [GRCh38]
Chr11:76903195 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002507155]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000667036]|Usher syndrome type 1B [RCV001829841]|not provided [RCV001240019] Chr11:77190078 [GRCh38]
Chr11:76901123 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667139]|Usher syndrome type 1B [RCV001835081]|not provided [RCV001056892] Chr11:77201516 [GRCh38]
Chr11:76912561 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002485530]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666324]|not provided [RCV002530679] Chr11:77177627 [GRCh38]
Chr11:76888673 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV003152726]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000674849]|Usher syndrome type 1B [RCV001829885]|not provided [RCV001547725]|not specified [RCV003323677] Chr11:77174843 [GRCh38]
Chr11:76885889 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000668610]|MYO7A-related condition [RCV003403551] Chr11:77205468..77205469 [GRCh38]
Chr11:76916513..76916514 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000668632]|Meniere disease [RCV001526681]|Usher syndrome type 1B [RCV001829848]|not provided [RCV001203639] Chr11:77130637 [GRCh38]
Chr11:76841683 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs) microsatellite Autosomal recessive nonsyndromic hearing loss 2 [RCV000668658] Chr11:77177600..77177601 [GRCh38]
Chr11:76888646..76888647 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5856+5G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000681551]|Hearing loss, autosomal recessive [RCV001291105] Chr11:77207407 [GRCh38]
Chr11:76918452 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000665743]|not provided [RCV001855445] Chr11:77201512 [GRCh38]
Chr11:76912557 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000674395] Chr11:77182094..77182096 [GRCh38]
Chr11:76893140..76893142 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002477496]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000668764]|not provided [RCV001724124] Chr11:77162179 [GRCh38]
Chr11:76873225 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672457]|Usher syndrome type 1B [RCV001829877]|not provided [RCV001347349]|not specified [RCV003387907] Chr11:77147883 [GRCh38]
Chr11:76858929 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673728] Chr11:77156013 [GRCh38]
Chr11:76867059 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673801]|not provided [RCV001855603] Chr11:77183080 [GRCh38]
Chr11:76894125 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) microsatellite Autosomal recessive nonsyndromic hearing loss 2 [RCV000665251]|Usher syndrome type 1 [RCV001028035]|not provided [RCV001235336] Chr11:77198553..77198554 [GRCh38]
Chr11:76909598..76909599 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000674703] Chr11:77207343 [GRCh38]
Chr11:76918388 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000672944]|Usher syndrome [RCV001171540]|Usher syndrome type 1 [RCV000988605]|Usher syndrome type 1B [RCV001830456]|not provided [RCV001309116] Chr11:77174817 [GRCh38]
Chr11:76885863 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000675065]|Usher syndrome type 1B [RCV001828119]|not provided [RCV001315655] Chr11:77142719 [GRCh38]
Chr11:76853765 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665960] Chr11:77211933 [GRCh38]
Chr11:76922978 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000665969]|not provided [RCV001855449] Chr11:77156885 [GRCh38]
Chr11:76867931 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5945-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673408]|not provided [RCV001041885] Chr11:77208696 [GRCh38]
Chr11:76919741 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.19-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000674972] Chr11:77142707 [GRCh38]
Chr11:76853753 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667049]|not provided [RCV001855473] Chr11:77211904 [GRCh38]
Chr11:76922949 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000673623]|Usher syndrome type 1B [RCV001829882]|not provided [RCV001317095] Chr11:77184649 [GRCh38]
Chr11:76895694 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000673649]|Usher syndrome [RCV003389480]|Usher syndrome type 1 [RCV002250680] Chr11:77194384..77194385 [GRCh38]
Chr11:76905429..76905430 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3109-27_3109-7dup duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000666662] Chr11:77182389..77182390 [GRCh38]
Chr11:76893434..76893435 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000763284]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666616]|Usher syndrome type 1B [RCV001835077]|not provided [RCV001239645] Chr11:77208780 [GRCh38]
Chr11:76919825 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5481-1G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000667676] Chr11:77205461 [GRCh38]
Chr11:76916506 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002485569]|Deafness [RCV000679824]|Hearing loss, autosomal recessive [RCV001291474]|not provided [RCV001771924]|not specified [RCV003235344] Chr11:77183146 [GRCh38]
Chr11:76894191 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5326+3A>G single nucleotide variant Deafness [RCV000679822]|Hearing loss, autosomal recessive [RCV001291100] Chr11:77203220 [GRCh38]
Chr11:76914265 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) single nucleotide variant Deafness [RCV000679821]|Hearing loss, autosomal recessive [RCV001291103] Chr11:77205503 [GRCh38]
Chr11:76916548 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001580535]|Deafness [RCV000679825]|Hearing loss, autosomal recessive [RCV001291101]|not provided [RCV001861875]|not specified [RCV003323681] Chr11:77204094 [GRCh38]
Chr11:76915139 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) single nucleotide variant Deafness [RCV000679826]|Hearing loss, autosomal recessive [RCV001291477] Chr11:77189430 [GRCh38]
Chr11:76900475 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) single nucleotide variant Deafness [RCV000679823]|Hearing loss, autosomal recessive [RCV001291463]|Rare genetic deafness [RCV000825401] Chr11:77147912 [GRCh38]
Chr11:76858958 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 11q13.5-14.1(chr11:76895239-77568340)x3 copy number gain not provided [RCV000683346] Chr11:76895239..77568340 [GRCh37]
Chr11:11q13.5-14.1
uncertain significance
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV000763281]|Usher syndrome type 1B [RCV000680440]|not provided [RCV001214311] Chr11:77192132 [GRCh38]
Chr11:76903177 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
NM_000260.4(MYO7A):c.75_82del (p.Ala26fs) deletion Ear malformation [RCV001814548] Chr11:77142763..77142770 [GRCh38]
Chr11:76853809..76853816 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4852+2T>C single nucleotide variant Usher syndrome type 1 [RCV001808115] Chr11:77199820 [GRCh38]
Chr11:76910865 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs) duplication Usher syndrome type 1 [RCV001003082] Chr11:77160214..77160215 [GRCh38]
Chr11:76871260..76871261 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) single nucleotide variant Usher syndrome type 1 [RCV001004379]|not provided [RCV003132140] Chr11:77160250 [GRCh38]
Chr11:76871296 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2187+1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001809892]|Usher syndrome type 1 [RCV001003085] Chr11:77175465 [GRCh38]
Chr11:76886511 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs) insertion Usher syndrome type 1 [RCV001003088] Chr11:77202325..77202326 [GRCh38]
Chr11:76913370..76913371 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4152+163A>G single nucleotide variant not provided [RCV001574375] Chr11:77192441 [GRCh38]
Chr11:76903486 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2586+209C>T single nucleotide variant not provided [RCV001582165] Chr11:77180162 [GRCh38]
Chr11:76891208 [GRCh37]
Chr11:11q13.5
likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.5(chr11:76895772-76906312)x1 copy number loss not provided [RCV000737590] Chr11:76895772..76906312 [GRCh37]
Chr11:11q13.5
benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His) single nucleotide variant Hearing impairment [RCV000754556] Chr11:77192233 [GRCh38]
Chr11:76903278 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2187+37G>A single nucleotide variant not provided [RCV001540919] Chr11:77175501 [GRCh38]
Chr11:76886547 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.132+336C>T single nucleotide variant not provided [RCV001707144] Chr11:77143158 [GRCh38]
Chr11:76854204 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3886del (p.Arg1296fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV001542593] Chr11:77190831 [GRCh38]
Chr11:76901876 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5044-307T>C single nucleotide variant not provided [RCV001584659] Chr11:77201993 [GRCh38]
Chr11:76913038 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6354+206C>A single nucleotide variant not provided [RCV001668765] Chr11:77212143 [GRCh38]
Chr11:76923188 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4441+125_4441+128del deletion not provided [RCV001725266] Chr11:77197723..77197726 [GRCh38]
Chr11:76908768..76908771 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2905-172_2905-166del deletion not provided [RCV001725271] Chr11:77181773..77181779 [GRCh38]
Chr11:76892819..76892825 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3987C>T (p.Tyr1329=) single nucleotide variant Usher syndrome type 1B [RCV001826989]|not provided [RCV000941299] Chr11:77192113 [GRCh38]
Chr11:76903158 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5742+114T>A single nucleotide variant not provided [RCV001546170] Chr11:77206316 [GRCh38]
Chr11:76917361 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6237+87C>A single nucleotide variant not provided [RCV001583727] Chr11:77211424 [GRCh38]
Chr11:76922469 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001580742]|Usher syndrome type 1 [RCV001580743]|not provided [RCV002573268] Chr11:77181482 [GRCh38]
Chr11:76892528 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4083C>T (p.Asn1361=) single nucleotide variant not provided [RCV000978698] Chr11:77192209 [GRCh38]
Chr11:76903254 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4852+80A>G single nucleotide variant not provided [RCV001575448] Chr11:77199898 [GRCh38]
Chr11:76910943 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3285+91dup duplication not provided [RCV001725692] Chr11:77182686..77182687 [GRCh38]
Chr11:76893731..76893732 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg) single nucleotide variant Usher syndrome type 1 [RCV001004381]|not provided [RCV001383211] Chr11:77181522 [GRCh38]
Chr11:76892568 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2081C>T (p.Pro694Leu) single nucleotide variant Inborn genetic diseases [RCV002533881]|Usher syndrome type 1B [RCV001825508]|not provided [RCV000761793] Chr11:77174901 [GRCh38]
Chr11:76885947 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=) single nucleotide variant Usher syndrome type 1B [RCV001272813]|not provided [RCV000761795]|not specified [RCV001700303] Chr11:77205475 [GRCh38]
Chr11:76916520 [GRCh37]
Chr11:11q13.5
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5228G>A (p.Arg1743Gln) single nucleotide variant Usher syndrome type 1B [RCV001272809]|not provided [RCV001052995] Chr11:77203119 [GRCh38]
Chr11:76914164 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter) single nucleotide variant not provided [RCV000760715] Chr11:77211330 [GRCh38]
Chr11:76922375 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6051+207G>A single nucleotide variant not provided [RCV001586585] Chr11:77209010 [GRCh38]
Chr11:76920055 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2399T>C (p.Leu800Pro) single nucleotide variant not provided [RCV001569407] Chr11:77179766 [GRCh38]
Chr11:76890812 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578719]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578720]|Usher syndrome type 1 [RCV001578721]|Usher syndrome type 1B [RCV001272503]|not provided [RCV001052455] Chr11:77179813 [GRCh38]
Chr11:76890859 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000988597]|Nonsyndromic genetic hearing loss [RCV001261014]|Usher syndrome type 1B [RCV001827128]|not provided [RCV001036437] Chr11:77142709 [GRCh38]
Chr11:76853755 [GRCh37]
Chr11:11q13.5
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000988603]|Ear malformation [RCV001814245]|not provided [RCV001869355] Chr11:77166073 [GRCh38]
Chr11:76877119 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2920C>T (p.Arg974Trp) single nucleotide variant Usher syndrome type 1B [RCV001832539]|not provided [RCV001060185] Chr11:77181966 [GRCh38]
Chr11:76893012 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002497440]|Usher syndrome type 1 [RCV001809972]|Usher syndrome type 1B [RCV001832540]|not provided [RCV001060271] Chr11:77181960 [GRCh38]
Chr11:76893006 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.4442-1G>A single nucleotide variant not provided [RCV001054500] Chr11:77198494 [GRCh38]
Chr11:76909539 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1690+116AT[10] microsatellite not provided [RCV001640959] Chr11:77163103..77163104 [GRCh38]
Chr11:76874149..76874150 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5327-228A>G single nucleotide variant not provided [RCV001649347] Chr11:77203848 [GRCh38]
Chr11:76914893 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1595A>G (p.His532Arg) single nucleotide variant not provided [RCV001055091] Chr11:77162893 [GRCh38]
Chr11:76873939 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3504-331A>G single nucleotide variant not provided [RCV001565612] Chr11:77189013 [GRCh38]
Chr11:76900058 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys) single nucleotide variant Usher syndrome type 1B [RCV001827353]|not provided [RCV001055480]|not specified [RCV001449826] Chr11:77179867 [GRCh38]
Chr11:76890913 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4387C>T (p.Arg1463Cys) single nucleotide variant Usher syndrome type 1B [RCV001271761]|not provided [RCV001055658] Chr11:77197544 [GRCh38]
Chr11:76908589 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5326+164G>A single nucleotide variant not provided [RCV001551560] Chr11:77203381 [GRCh38]
Chr11:76914426 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4441+132_4441+197del deletion not provided [RCV001581211] Chr11:77197728..77197793 [GRCh38]
Chr11:76908773..76908838 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.286-27G>A single nucleotide variant not provided [RCV001581361] Chr11:77155880 [GRCh38]
Chr11:76866926 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3277G>A (p.Glu1093Lys) single nucleotide variant Usher syndrome type 1B [RCV001827490]|not provided [RCV001566129] Chr11:77182592 [GRCh38]
Chr11:76893637 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.470+123C>A single nucleotide variant not provided [RCV001546976] Chr11:77156214 [GRCh38]
Chr11:76867260 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578635]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578636]|Usher syndrome type 1 [RCV001578637] Chr11:77162967 [GRCh38]
Chr11:76874013 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578772]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578773]|Usher syndrome type 1 [RCV001578774] Chr11:77147850 [GRCh38]
Chr11:76858896 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.593-40G>A single nucleotide variant not provided [RCV001547836] Chr11:77156822 [GRCh38]
Chr11:76867868 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6238-1G>A single nucleotide variant not provided [RCV001057750] Chr11:77211820 [GRCh38]
Chr11:76922865 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1081-78G>A single nucleotide variant not provided [RCV001585448] Chr11:77160085 [GRCh38]
Chr11:76871131 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5011C>A (p.Pro1671Thr) single nucleotide variant Usher syndrome type 1B [RCV001827372]|not provided [RCV001058794] Chr11:77201606 [GRCh38]
Chr11:76912651 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.434T>G (p.Met145Arg) single nucleotide variant not provided [RCV001889006] Chr11:77156055 [GRCh38]
Chr11:76867101 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6181C>T (p.Arg2061Trp) single nucleotide variant Inborn genetic diseases [RCV003243451]|Usher syndrome type 1B [RCV001275532]|not provided [RCV001059558] Chr11:77211281 [GRCh38]
Chr11:76922326 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.882_886dup (p.Gln296fs) duplication Retinitis pigmentosa [RCV000787854] Chr11:77158308..77158309 [GRCh38]
Chr11:76869354..76869355 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5742+27C>T single nucleotide variant not provided [RCV001575167] Chr11:77206229 [GRCh38]
Chr11:76917274 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1797+309G>T single nucleotide variant not provided [RCV001575788] Chr11:77166471 [GRCh38]
Chr11:76877517 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4323+83G>A single nucleotide variant not provided [RCV001610229] Chr11:77194607 [GRCh38]
Chr11:76905652 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5168+69G>A single nucleotide variant not provided [RCV001568698] Chr11:77202493 [GRCh38]
Chr11:76913538 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5857-127G>C single nucleotide variant not provided [RCV001550120] Chr11:77208303 [GRCh38]
Chr11:76919348 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5857-296G>A single nucleotide variant not provided [RCV001666579] Chr11:77208134 [GRCh38]
Chr11:76919179 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4013G>A (p.Arg1338His) single nucleotide variant Usher syndrome type 1B [RCV001832780]|not provided [RCV001568847] Chr11:77192139 [GRCh38]
Chr11:76903184 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5742+223A>C single nucleotide variant not provided [RCV001584010] Chr11:77206425 [GRCh38]
Chr11:76917470 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000988604]|Usher syndrome type 1B [RCV001827130]|not provided [RCV000994686]|not specified [RCV001195389] Chr11:77172851 [GRCh38]
Chr11:76883897 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3963C>T (p.Asp1321=) single nucleotide variant not provided [RCV000921496] Chr11:77192089 [GRCh38]
Chr11:76903134 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.19-9C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109244]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109245]|Usher syndrome type 1 [RCV001109243]|Usher syndrome type 1B [RCV001274685]|not provided [RCV000925705] Chr11:77142700 [GRCh38]
Chr11:76853746 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6438+10G>A single nucleotide variant not provided [RCV000981962] Chr11:77213045 [GRCh38]
Chr11:76924090 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6639C>T (p.Ser2213=) single nucleotide variant not provided [RCV000969861] Chr11:77214687 [GRCh38]
Chr11:76925732 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1344-9C>A single nucleotide variant not provided [RCV000943898] Chr11:77162111 [GRCh38]
Chr11:76873157 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1691-4G>A single nucleotide variant not provided [RCV000945122] Chr11:77166052 [GRCh38]
Chr11:76877098 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4407C>T (p.Leu1469=) single nucleotide variant not provided [RCV000943071] Chr11:77197564 [GRCh38]
Chr11:76908609 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6238-10G>A single nucleotide variant not provided [RCV000928553] Chr11:77211811 [GRCh38]
Chr11:76922856 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.19-4A>T single nucleotide variant not provided [RCV000928565] Chr11:77142705 [GRCh38]
Chr11:76853751 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.894C>T (p.Tyr298=) single nucleotide variant Usher syndrome type 1B [RCV001826942]|not provided [RCV000929571] Chr11:77158321 [GRCh38]
Chr11:76869367 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6378T>G (p.Pro2126=) single nucleotide variant not provided [RCV000922993] Chr11:77212975 [GRCh38]
Chr11:76924020 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3369A>G (p.Thr1123=) single nucleotide variant not provided [RCV000923040] Chr11:77183151 [GRCh38]
Chr11:76894196 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110784]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110782]|Usher syndrome type 1 [RCV001110783]|Usher syndrome type 1B [RCV001276690]|not provided [RCV000971060] Chr11:77179842 [GRCh38]
Chr11:76890888 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4324-7C>T single nucleotide variant not provided [RCV000983041] Chr11:77197474 [GRCh38]
Chr11:76908519 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3954C>T (p.His1318=) single nucleotide variant Usher syndrome type 1B [RCV001271755]|not provided [RCV000983071] Chr11:77192080 [GRCh38]
Chr11:76903125 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4668G>A (p.Pro1556=) single nucleotide variant Usher syndrome type 1B [RCV001271765]|not provided [RCV000921949] Chr11:77199634 [GRCh38]
Chr11:76910679 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.2847C>T (p.Phe949=) single nucleotide variant not provided [RCV000943256] Chr11:77181532 [GRCh38]
Chr11:76892578 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3924+8C>T single nucleotide variant Usher syndrome type 1B [RCV001271753]|not provided [RCV000975628] Chr11:77190878 [GRCh38]
Chr11:76901923 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5079C>T (p.Asp1693=) single nucleotide variant not provided [RCV000948869] Chr11:77202335 [GRCh38]
Chr11:76913380 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5253G>A (p.Pro1751=) single nucleotide variant Usher syndrome type 1B [RCV001272811]|not provided [RCV000921306] Chr11:77203144 [GRCh38]
Chr11:76914189 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3120G>A (p.Ala1040=) single nucleotide variant not provided [RCV000982626] Chr11:77182435 [GRCh38]
Chr11:76893480 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=) single nucleotide variant Usher syndrome type 1B [RCV001279794]|not provided [RCV000928804] Chr11:77190049 [GRCh38]
Chr11:76901094 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5667G>A (p.Leu1889=) single nucleotide variant Usher syndrome type 1B [RCV001272816]|not provided [RCV000879658] Chr11:77206127 [GRCh38]
Chr11:76917172 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2695-6G>A single nucleotide variant not provided [RCV000928263] Chr11:77181374 [GRCh38]
Chr11:76892420 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.875G>A (p.Arg292Gln) single nucleotide variant Usher syndrome type 1B [RCV001274694]|not provided [RCV000926132] Chr11:77158302 [GRCh38]
Chr11:76869348 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1221C>T (p.Phe407=) single nucleotide variant not provided [RCV000976228] Chr11:77160993 [GRCh38]
Chr11:76872039 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4539C>T (p.Phe1513=) single nucleotide variant not provided [RCV000915404] Chr11:77198592 [GRCh38]
Chr11:76909637 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2868G>A (p.Leu956=) single nucleotide variant not provided [RCV000943785] Chr11:77181553 [GRCh38]
Chr11:76892599 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6309C>T (p.Leu2103=) single nucleotide variant Usher syndrome type 1B [RCV001830967]|not provided [RCV000901809] Chr11:77211892 [GRCh38]
Chr11:76922937 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5244G>A (p.Thr1748=) single nucleotide variant not provided [RCV000976480] Chr11:77203135 [GRCh38]
Chr11:76914180 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5196T>A (p.Arg1732=) single nucleotide variant not provided [RCV000976487] Chr11:77203087 [GRCh38]
Chr11:76914132 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.75G>C (p.Gly25=) single nucleotide variant not provided [RCV000944402] Chr11:77142765 [GRCh38]
Chr11:76853811 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.286-4G>A single nucleotide variant not provided [RCV000920147] Chr11:77155903 [GRCh38]
Chr11:76866949 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4938G>A (p.Ser1646=) single nucleotide variant not provided [RCV000924484] Chr11:77201533 [GRCh38]
Chr11:76912578 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1343+7C>T single nucleotide variant Usher syndrome type 1B [RCV001274699]|not provided [RCV000982245] Chr11:77161122 [GRCh38]
Chr11:76872168 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4512G>A (p.Gln1504=) single nucleotide variant Usher syndrome type 1B [RCV001271763]|not provided [RCV000927865] Chr11:77198565 [GRCh38]
Chr11:76909610 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4751C>G (p.Ser1584Cys) single nucleotide variant not provided [RCV001071331] Chr11:77199717 [GRCh38]
Chr11:76910762 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4853-11C>G single nucleotide variant Retinal dystrophy [RCV001075331] Chr11:77201437 [GRCh38]
Chr11:76912482 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6346G>A (p.Glu2116Lys) single nucleotide variant Usher syndrome type 1B [RCV001274809]|not provided [RCV001037401] Chr11:77211929 [GRCh38]
Chr11:76922974 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2468G>C (p.Arg823Pro) single nucleotide variant Usher syndrome type 1B [RCV001272504]|not provided [RCV001066792] Chr11:77179835 [GRCh38]
Chr11:76890881 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter) single nucleotide variant not provided [RCV001071812] Chr11:77207331 [GRCh38]
Chr11:76918376 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.850-3C>G single nucleotide variant Retinal dystrophy [RCV001075732] Chr11:77158274 [GRCh38]
Chr11:76869320 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1213C>T (p.Arg405Trp) single nucleotide variant Usher syndrome type 1B [RCV001827227]|not provided [RCV001037937] Chr11:77160985 [GRCh38]
Chr11:76872031 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu) single nucleotide variant Inborn genetic diseases [RCV003243396]|Usher syndrome type 1B [RCV001274811]|not provided [RCV001034150] Chr11:77213023 [GRCh38]
Chr11:76924068 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2267G>A (p.Arg756Gln) single nucleotide variant Usher syndrome type 1B [RCV001272502]|not provided [RCV001039469] Chr11:77177628 [GRCh38]
Chr11:76888674 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4667_4668delinsTA (p.Pro1556Leu) indel not provided [RCV001034420] Chr11:77199633..77199634 [GRCh38]
Chr11:76910678..76910679 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2707C>T (p.Gln903Ter) single nucleotide variant not provided [RCV001061558] Chr11:77181392 [GRCh38]
Chr11:76892438 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2717G>T (p.Arg906Leu) single nucleotide variant Usher syndrome type 1B [RCV001827391]|not provided [RCV001061751] Chr11:77181402 [GRCh38]
Chr11:76892448 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1895T>G (p.Phe632Cys) single nucleotide variant Usher syndrome type 1B [RCV001828515]|not provided [RCV001069292] Chr11:77172845 [GRCh38]
Chr11:76883891 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1201-5T>C single nucleotide variant Retinal dystrophy [RCV001073321] Chr11:77160968 [GRCh38]
Chr11:76872014 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1522T>C (p.Ser508Pro) single nucleotide variant Retinal dystrophy [RCV001073328] Chr11:77162298 [GRCh38]
Chr11:76873344 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6470T>G (p.Ile2157Ser) single nucleotide variant not provided [RCV001046895] Chr11:77213891 [GRCh38]
Chr11:76924936 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV001089551] Chr11:77204167..77204181 [GRCh38]
Chr11:76915212..76915226 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5102G>A (p.Arg1701Gln) single nucleotide variant Usher syndrome type 1B [RCV001827399]|not provided [RCV001062461] Chr11:77202358 [GRCh38]
Chr11:76913403 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4685G>T (p.Gly1562Val) single nucleotide variant not provided [RCV001066258] Chr11:77199651 [GRCh38]
Chr11:76910696 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4568+1G>A single nucleotide variant Retinal dystrophy [RCV001074204]|not provided [RCV001379779] Chr11:77198622 [GRCh38]
Chr11:76909667 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn) single nucleotide variant Usher syndrome type 1B [RCV001274686]|not provided [RCV001048922] Chr11:77142751 [GRCh38]
Chr11:76853797 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3795G>A (p.Met1265Ile) single nucleotide variant Retinal dystrophy [RCV001074507]|not provided [RCV002557913] Chr11:77190741 [GRCh38]
Chr11:76901786 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) single nucleotide variant Retinal dystrophy [RCV001074577]|Usher syndrome type 1B [RCV001828538]|not provided [RCV001248517] Chr11:77207295 [GRCh38]
Chr11:76918340 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5892C>G (p.Asp1964Glu) single nucleotide variant Retinal dystrophy [RCV001074578] Chr11:77208465 [GRCh38]
Chr11:76919510 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5369G>A (p.Arg1790His) single nucleotide variant Usher syndrome type 1B [RCV001836078]|not provided [RCV001042909] Chr11:77204118 [GRCh38]
Chr11:76915163 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6355-2A>G single nucleotide variant Retinal dystrophy [RCV001075106]|not provided [RCV002554742] Chr11:77212950 [GRCh38]
Chr11:76923995 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) single nucleotide variant Hearing loss, autosomal recessive [RCV001291102]|MYO7A-Related Disorders [RCV000779081]|not provided [RCV001383418] Chr11:77204183 [GRCh38]
Chr11:76915228 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1798-1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000770847]|not provided [RCV001576851] Chr11:77172747 [GRCh38]
Chr11:76883793 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6237+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000770848]|not provided [RCV001855994] Chr11:77211338 [GRCh38]
Chr11:76922383 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile) single nucleotide variant Usher syndrome type 1 [RCV001329741]|not specified [RCV000825397] Chr11:77201522 [GRCh38]
Chr11:76912567 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2316A>G (p.Thr772=) single nucleotide variant Usher syndrome type 1B [RCV001825689]|not provided [RCV000827225] Chr11:77179078 [GRCh38]
Chr11:76890124 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3570G>T (p.Arg1190=) single nucleotide variant not provided [RCV000827536] Chr11:77189410 [GRCh38]
Chr11:76900455 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2282+1G>C single nucleotide variant MYO7A-Related Disorders [RCV000778341] Chr11:77177644 [GRCh38]
Chr11:76888690 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4105C>T (p.Gln1369Ter) single nucleotide variant MYO7A-Related Disorders [RCV000778343] Chr11:77192231 [GRCh38]
Chr11:76903276 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4309G>A (p.Ala1437Thr) single nucleotide variant not provided [RCV000927807] Chr11:77194510 [GRCh38]
Chr11:76905555 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=) single nucleotide variant Usher syndrome type 1B [RCV001271744]|not provided [RCV000928072] Chr11:77184608 [GRCh38]
Chr11:76895653 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4308C>T (p.Ile1436=) single nucleotide variant Usher syndrome type 1B [RCV001832099]|not provided [RCV000928073] Chr11:77194509 [GRCh38]
Chr11:76905554 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2095-4C>G single nucleotide variant Usher syndrome type 1B [RCV001276685]|not provided [RCV000917813] Chr11:77175368 [GRCh38]
Chr11:76886414 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1081-7G>A single nucleotide variant not provided [RCV000983739] Chr11:77160156 [GRCh38]
Chr11:76871202 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3546C>T (p.Asn1182=) single nucleotide variant not provided [RCV000978283] Chr11:77189386 [GRCh38]
Chr11:76900431 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4568+10C>A single nucleotide variant Usher syndrome type 1B [RCV001832248]|not provided [RCV000977551] Chr11:77198631 [GRCh38]
Chr11:76909676 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.19-8G>A single nucleotide variant not provided [RCV000903100] Chr11:77142701 [GRCh38]
Chr11:76853747 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2961C>G (p.Pro987=) single nucleotide variant not provided [RCV000910652] Chr11:77182007 [GRCh38]
Chr11:76893053 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5445G>A (p.Val1815=) single nucleotide variant Usher syndrome type 1B [RCV001277326]|not provided [RCV000977631] Chr11:77204194 [GRCh38]
Chr11:76915239 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.759C>T (p.His253=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111844]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111843]|Usher syndrome type 1 [RCV001111845]|Usher syndrome type 1B [RCV001832269]|not provided [RCV000979396] Chr11:77157302 [GRCh38]
Chr11:76868348 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3291G>A (p.Gln1097=) single nucleotide variant Usher syndrome type 1B [RCV001276700]|not provided [RCV000900250] Chr11:77183073 [GRCh38]
Chr11:76894118 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=) single nucleotide variant not provided [RCV000982538]|not specified [RCV001449680] Chr11:77179749 [GRCh38]
Chr11:76890795 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.5778C>T (p.Asp1926=) single nucleotide variant not provided [RCV000943478] Chr11:77207324 [GRCh38]
Chr11:76918369 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=) single nucleotide variant Usher syndrome type 1B [RCV001277327]|not provided [RCV000944837] Chr11:77204215 [GRCh38]
Chr11:76915260 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002503108]|not provided [RCV000975535] Chr11:77197510 [GRCh38]
Chr11:76908555 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110352]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110350]|Usher syndrome type 1 [RCV001110351]|Usher syndrome type 1B [RCV001271751]|not provided [RCV000931572] Chr11:77190729 [GRCh38]
Chr11:76901774 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6504C>T (p.His2168=) single nucleotide variant not provided [RCV000941848] Chr11:77213925 [GRCh38]
Chr11:76924970 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=) single nucleotide variant Usher syndrome type 1B [RCV001275539]|not provided [RCV000931635] Chr11:77213941 [GRCh38]
Chr11:76924986 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3507C>T (p.Asp1169=) single nucleotide variant Usher syndrome type 1B [RCV001279790]|not provided [RCV000918754] Chr11:77189347 [GRCh38]
Chr11:76900392 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2526C>T (p.Thr842=) single nucleotide variant Usher syndrome type 1B [RCV001276693]|not provided [RCV000979759] Chr11:77179893 [GRCh38]
Chr11:76890939 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.444C>T (p.Asn148=) single nucleotide variant Usher syndrome type 1B [RCV001275890]|not provided [RCV000979832] Chr11:77156065 [GRCh38]
Chr11:76867111 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.525G>A (p.Leu175=) single nucleotide variant not provided [RCV000979856] Chr11:77156714 [GRCh38]
Chr11:76867760 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113656]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113655]|Usher syndrome type 1 [RCV001113657]|not provided [RCV000979886] Chr11:77211190 [GRCh38]
Chr11:76922235 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5266C>T (p.Leu1756=) single nucleotide variant not provided [RCV000982528] Chr11:77203157 [GRCh38]
Chr11:76914202 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5739C>T (p.Asp1913=) single nucleotide variant not provided [RCV000942694] Chr11:77206199 [GRCh38]
Chr11:76917244 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4158C>T (p.Asp1386=) single nucleotide variant not provided [RCV000915235] Chr11:77194359 [GRCh38]
Chr11:76905404 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1059C>T (p.Ala353=) single nucleotide variant Usher syndrome type 1B [RCV001274697]|not provided [RCV000979795] Chr11:77159502 [GRCh38]
Chr11:76870548 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=) single nucleotide variant Usher syndrome type 1B [RCV001279405]|not provided [RCV000896383] Chr11:77180388 [GRCh38]
Chr11:76891434 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5796C>T (p.Ala1932=) single nucleotide variant not provided [RCV000982647] Chr11:77207342 [GRCh38]
Chr11:76918387 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4803C>G (p.Leu1601=) single nucleotide variant not provided [RCV000943595] Chr11:77199769 [GRCh38]
Chr11:76910814 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1053G>A (p.Ser351=) single nucleotide variant Usher syndrome type 1B [RCV001832260]|not provided [RCV000978730] Chr11:77159496 [GRCh38]
Chr11:76870542 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3438G>A (p.Arg1146=) single nucleotide variant not provided [RCV000981116] Chr11:77184650 [GRCh38]
Chr11:76895695 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3555G>A (p.Lys1185=) single nucleotide variant not provided [RCV000982940] Chr11:77189395 [GRCh38]
Chr11:76900440 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6238-7C>T single nucleotide variant not provided [RCV000928566] Chr11:77211814 [GRCh38]
Chr11:76922859 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.846C>T (p.Ala282=) single nucleotide variant not provided [RCV000977997] Chr11:77157389 [GRCh38]
Chr11:76868435 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.513C>A (p.Ile171=) single nucleotide variant not provided [RCV000941298] Chr11:77156702 [GRCh38]
Chr11:76867748 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3651C>T (p.His1217=) single nucleotide variant Usher syndrome type 1B [RCV001826980]|not provided [RCV000938817] Chr11:77190040 [GRCh38]
Chr11:76901085 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113759]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113757]|Usher syndrome type 1 [RCV001113758]|Usher syndrome type 1B [RCV001274814]|not provided [RCV000939309] Chr11:77213973 [GRCh38]
Chr11:76925018 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000770846] Chr11:77197596 [GRCh38]
Chr11:76908641 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1530C>T (p.Ile510=) single nucleotide variant Usher syndrome type 1B [RCV001274702]|not provided [RCV000976552] Chr11:77162306 [GRCh38]
Chr11:76873352 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4248C>A (p.Tyr1416Ter) single nucleotide variant not provided [RCV000797609] Chr11:77194449 [GRCh38]
Chr11:76905494 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5388C>T (p.Thr1796=) single nucleotide variant Usher syndrome type 1B [RCV001272812]|not provided [RCV000828188] Chr11:77204137 [GRCh38]
Chr11:76915182 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) single nucleotide variant Usher syndrome type 1B [RCV001274808]|not provided [RCV000901466]|not specified [RCV000825202] Chr11:77211855 [GRCh38]
Chr11:76922900 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn) single nucleotide variant Inborn genetic diseases [RCV002536051]|Usher syndrome type 1B [RCV001272511]|not provided [RCV001858389]|not specified [RCV000825402] Chr11:77184596 [GRCh38]
Chr11:76895641 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001109567]|Usher syndrome type 1 [RCV001113579]|Usher syndrome type 1B [RCV001275895]|not provided [RCV001245266]|not specified [RCV000825983] Chr11:77156886 [GRCh38]
Chr11:76867932 [GRCh37]
Chr11:11q13.5
benign|uncertain significance
NM_000260.4(MYO7A):c.1554+244T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533298]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533299]|Usher syndrome type 1 [RCV001533300]|not provided [RCV000829503] Chr11:77162574 [GRCh38]
Chr11:76873620 [GRCh37]
Chr11:11q13.5
benign
NC_000011.10:g.77183190G>C single nucleotide variant not provided [RCV000829508] Chr11:76894235 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3750+89C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533359]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533360]|Usher syndrome type 1 [RCV001533361]|not provided [RCV000829509] Chr11:77190228 [GRCh38]
Chr11:76901273 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.133del deletion Autosomal dominant nonsyndromic hearing loss 11 [RCV000985195] Chr11:77147797 [GRCh38]
Chr11:76858843 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2636A>C (p.Lys879Thr) single nucleotide variant Usher syndrome type 1B [RCV001825686]|not specified [RCV000825984] Chr11:77180423 [GRCh38]
Chr11:76891469 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5752G>A (p.Val1918Met) single nucleotide variant Usher syndrome type 1B [RCV001830844]|not specified [RCV000825985] Chr11:77207298 [GRCh38]
Chr11:76918343 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1080+65T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533295]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533296]|Usher syndrome type 1 [RCV001533297]|not provided [RCV000838431] Chr11:77159588 [GRCh38]
Chr11:76870634 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1691-126_1691-125insT insertion not provided [RCV000838432] Chr11:77165930..77165931 [GRCh38]
Chr11:76876976..76876977 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1935+191A>T single nucleotide variant not provided [RCV000838433] Chr11:77173076 [GRCh38]
Chr11:76884122 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2187+208G>A single nucleotide variant not provided [RCV000838434] Chr11:77175672 [GRCh38]
Chr11:76886718 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2367+225T>C single nucleotide variant not provided [RCV000838435] Chr11:77179354 [GRCh38]
Chr11:76890400 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2694+58G>A single nucleotide variant not provided [RCV000838436] Chr11:77180539 [GRCh38]
Chr11:76891585 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3925-243A>G single nucleotide variant not provided [RCV000838442] Chr11:77191808 [GRCh38]
Chr11:76902853 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6051+190T>G single nucleotide variant not provided [RCV000838450] Chr11:77208993 [GRCh38]
Chr11:76920038 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6051+234C>G single nucleotide variant not provided [RCV000838451] Chr11:77209037 [GRCh38]
Chr11:76920082 [GRCh37]
Chr11:11q13.5
benign
NC_000011.10:g.(?_77166046)_(77177653_?)del deletion not provided [RCV000809304] Chr11:77166046..77177653 [GRCh38]
Chr11:76877092..76888699 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6356A>C (p.Gln2119Pro) single nucleotide variant not specified [RCV000825405] Chr11:77212953 [GRCh38]
Chr11:76923998 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2367+67T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533329]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533330]|Usher syndrome type 1 [RCV001533331]|not provided [RCV000829505] Chr11:77179196 [GRCh38]
Chr11:76890242 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2695-58C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533332]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533333]|Usher syndrome type 1 [RCV001533334]|not provided [RCV000829506] Chr11:77181322 [GRCh38]
Chr11:76892368 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3925-93C>G single nucleotide variant not provided [RCV000829527] Chr11:77191958 [GRCh38]
Chr11:76903003 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4323+156C>T single nucleotide variant not provided [RCV000829529] Chr11:77194680 [GRCh38]
Chr11:76905725 [GRCh37]
Chr11:11q13.5
benign
NC_000011.10:g.77213085A>T single nucleotide variant not provided [RCV000829534] Chr11:76924130 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1003+298C>G single nucleotide variant not provided [RCV000840461] Chr11:77158728 [GRCh38]
Chr11:76869774 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1343+253C>G single nucleotide variant not provided [RCV000840462] Chr11:77161368 [GRCh38]
Chr11:76872414 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1797+283T>C single nucleotide variant not provided [RCV000840463] Chr11:77166445 [GRCh38]
Chr11:76877491 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3504-311G>A single nucleotide variant not provided [RCV000840469] Chr11:77189033 [GRCh38]
Chr11:76900078 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4569-261C>T single nucleotide variant not provided [RCV000840470] Chr11:77199274 [GRCh38]
Chr11:76910319 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6051+263G>A single nucleotide variant not provided [RCV000840472] Chr11:77209066 [GRCh38]
Chr11:76920111 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6559-257T>C single nucleotide variant not provided [RCV000840476] Chr11:77214350 [GRCh38]
Chr11:76925395 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000988599]|Usher syndrome type 1B [RCV001827129]|not provided [RCV001243585] Chr11:77147933 [GRCh38]
Chr11:76858979 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000988613]|Usher syndrome [RCV003324544]|not provided [RCV001858695] Chr11:77198542 [GRCh38]
Chr11:76909587 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.6044_6047dup (p.Tyr2016Ter) duplication not provided [RCV000792088] Chr11:77208795..77208796 [GRCh38]
Chr11:76919840..76919841 [GRCh37]
Chr11:11q13.5
pathogenic
NC_000011.10:g.77157232C>A single nucleotide variant not provided [RCV000835222] Chr11:76868278 [GRCh37]
Chr11:11q13.5
benign
NC_000011.10:g.77159412C>G single nucleotide variant not provided [RCV000835223] Chr11:76870458 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6196del (p.Gln2066fs) deletion not provided [RCV000804432] Chr11:77211293 [GRCh38]
Chr11:76922338 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5944+57G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533347]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533348]|Usher syndrome type 1 [RCV001533349]|not provided [RCV000833703] Chr11:77208574 [GRCh38]
Chr11:76919619 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5944+67C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533350]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533372]|Usher syndrome type 1 [RCV001533373]|not provided [RCV000833704] Chr11:77208584 [GRCh38]
Chr11:76919629 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1004-32T>C single nucleotide variant not provided [RCV000839018] Chr11:77159415 [GRCh38]
Chr11:76870461 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1935+302C>T single nucleotide variant not provided [RCV000831689] Chr11:77173187 [GRCh38]
Chr11:76884233 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3925-169C>T single nucleotide variant not provided [RCV000838443] Chr11:77191882 [GRCh38]
Chr11:76902927 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5044-247T>C single nucleotide variant not provided [RCV000838445] Chr11:77202053 [GRCh38]
Chr11:76913098 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5929C>T (p.Arg1977Trp) single nucleotide variant Retinitis pigmentosa [RCV000787916] Chr11:77208502 [GRCh38]
Chr11:76919547 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1690+80C>T single nucleotide variant not provided [RCV000839256] Chr11:77163068 [GRCh38]
Chr11:76874114 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4442-7G>A single nucleotide variant Usher syndrome type 1B [RCV001830858]|not provided [RCV000841872] Chr11:77198488 [GRCh38]
Chr11:76909533 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5497G>C (p.Gly1833Arg) single nucleotide variant not specified [RCV000825398] Chr11:77205478 [GRCh38]
Chr11:76916523 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr) single nucleotide variant Usher syndrome type 1B [RCV001273510]|not provided [RCV002067412]|not specified [RCV000825404] Chr11:77203154 [GRCh38]
Chr11:76914199 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5743-262G>C single nucleotide variant not provided [RCV000840471] Chr11:77207027 [GRCh38]
Chr11:76918072 [GRCh37]
Chr11:11q13.5
benign
NC_000011.10:g.77194559G>T single nucleotide variant not provided [RCV000829528] Chr11:76905604 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6558+51G>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533411]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533412]|Usher syndrome type 1 [RCV001533413]|not provided [RCV000829535] Chr11:77214030 [GRCh38]
Chr11:76925075 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5822_5823del (p.Glu1941fs) microsatellite not provided [RCV001059703] Chr11:77207366..77207367 [GRCh38]
Chr11:76918411..76918412 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.-52C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114886]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114888]|Usher syndrome type 1 [RCV001114887] Chr11:77128484 [GRCh38]
Chr11:76839530 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2762G>A (p.Arg921Gln) single nucleotide variant Usher syndrome type 1B [RCV001276695]|not provided [RCV001056595] Chr11:77181447 [GRCh38]
Chr11:76892493 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001115093]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001115091]|Usher syndrome type 1 [RCV001115092] Chr11:77156015 [GRCh38]
Chr11:76867061 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1094A>C (p.Asp365Ala) single nucleotide variant not provided [RCV001090422] Chr11:77160176 [GRCh38]
Chr11:76871222 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113935]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113934]|Usher syndrome type 1 [RCV001113933]|not provided [RCV001856501] Chr11:77174790 [GRCh38]
Chr11:76885836 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5480+162C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533303]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533304]|Usher syndrome type 1 [RCV001533305]|not provided [RCV000829531] Chr11:77204391 [GRCh38]
Chr11:76915436 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5637-175A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533309]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533310]|Usher syndrome type 1 [RCV001533311]|not provided [RCV000829532] Chr11:77205922 [GRCh38]
Chr11:76916967 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2919G>A (p.Gly973=) single nucleotide variant not provided [RCV000980801] Chr11:77181965 [GRCh38]
Chr11:76893011 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4324-207C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533368]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533369]|Usher syndrome type 1 [RCV001533370]|not provided [RCV000833189] Chr11:77197274 [GRCh38]
Chr11:76908319 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4324-202A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533371]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533393]|Usher syndrome type 1 [RCV001533394]|not provided [RCV000833190] Chr11:77197279 [GRCh38]
Chr11:76908324 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4441+333C>A single nucleotide variant not provided [RCV000833191] Chr11:77197931 [GRCh38]
Chr11:76908976 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5865C>T (p.Ser1955=) single nucleotide variant not provided [RCV000981943] Chr11:77208438 [GRCh38]
Chr11:76919483 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002501115]|Ear malformation [RCV001814241]|Retinal dystrophy [RCV001075462]|not provided [RCV000815067] Chr11:77203106 [GRCh38]
Chr11:76914151 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.19-34G>A single nucleotide variant not provided [RCV000836894] Chr11:77142675 [GRCh38]
Chr11:76853721 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2367+269A>G single nucleotide variant not provided [RCV000840464] Chr11:77179398 [GRCh38]
Chr11:76890444 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1690+262A>G single nucleotide variant not provided [RCV000840465] Chr11:77163250 [GRCh38]
Chr11:76874296 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1838A>G (p.Gln613Arg) single nucleotide variant not provided [RCV000787915] Chr11:77172788 [GRCh38]
Chr11:76883834 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile) single nucleotide variant Usher syndrome type 1B [RCV001835981]|not provided [RCV001811507]|not specified [RCV000825400] Chr11:77160277 [GRCh38]
Chr11:76871323 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002507450]|Usher syndrome type 1B [RCV001830836]|not provided [RCV001858390]|not specified [RCV000825403] Chr11:77180384 [GRCh38]
Chr11:76891430 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6474C>T (p.Ser2158=) single nucleotide variant not provided [RCV000981127] Chr11:77213895 [GRCh38]
Chr11:76924940 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4194A>G (p.Val1398=) single nucleotide variant Usher syndrome type 1B [RCV001271759]|not provided [RCV000841486] Chr11:77194395 [GRCh38]
Chr11:76905440 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2335C>T (p.Arg779Trp) single nucleotide variant Usher syndrome type 1B [RCV001832806]|not provided [RCV001581720] Chr11:77179097 [GRCh38]
Chr11:76890143 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4441+302A>C single nucleotide variant not provided [RCV001643404] Chr11:77197900 [GRCh38]
Chr11:76908945 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6495C>T (p.Thr2165=) single nucleotide variant not provided [RCV000977175] Chr11:77213916 [GRCh38]
Chr11:76924961 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1710A>G (p.Arg570=) single nucleotide variant Usher syndrome type 1B [RCV001276678]|not provided [RCV000941396] Chr11:77166075 [GRCh38]
Chr11:76877121 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NC_000011.10:g.77174733G>A single nucleotide variant not provided [RCV000829504] Chr11:76885779 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2905-54A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533338]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533339]|Usher syndrome type 1 [RCV001533340]|not provided [RCV000829507] Chr11:77181897 [GRCh38]
Chr11:76892943 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3751-94C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533362]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533363]|Usher syndrome type 1 [RCV001533364]|not provided [RCV000829510] Chr11:77190603 [GRCh38]
Chr11:76901648 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3924+109G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533365]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533366]|Usher syndrome type 1 [RCV001533367]|not provided [RCV000829511] Chr11:77190979 [GRCh38]
Chr11:76902024 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4442-113A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533404]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533405]|Usher syndrome type 1 [RCV001533406]|not provided [RCV000829530] Chr11:77198382 [GRCh38]
Chr11:76909427 [GRCh37]
Chr11:11q13.5
benign
NC_000011.10:g.77207452G>A single nucleotide variant not provided [RCV000829533] Chr11:76918497 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2694+134A>G single nucleotide variant not provided [RCV000838437] Chr11:77180615 [GRCh38]
Chr11:76891661 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.470+96C>T single nucleotide variant not provided [RCV000838438] Chr11:77156187 [GRCh38]
Chr11:76867233 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3109-68G>A single nucleotide variant Usher syndrome type 1B [RCV001272509]|not provided [RCV000838439] Chr11:77182356 [GRCh38]
Chr11:76893401 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3504-122G>A single nucleotide variant not provided [RCV000838440] Chr11:77189222 [GRCh38]
Chr11:76900267 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3751-119_3751-118insGCTGGGGCCTGGAGC insertion not provided [RCV000838441] Chr11:77190578..77190579 [GRCh38]
Chr11:76901623..76901624 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5481-83A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533306]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533307]|Usher syndrome type 1 [RCV001533308]|not provided [RCV000838448] Chr11:77205379 [GRCh38]
Chr11:76916424 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6051+155T>C single nucleotide variant not provided [RCV000838449] Chr11:77208958 [GRCh38]
Chr11:76920003 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.940G>A (p.Glu314Lys) single nucleotide variant MYO7A-related disorder [RCV000844973] Chr11:77158367 [GRCh38]
Chr11:76869413 [GRCh37]
Chr11:11q13.5
not provided
NM_000260.4(MYO7A):c.3503+12G>A single nucleotide variant Retinitis pigmentosa [RCV000787852] Chr11:77184727 [GRCh38]
Chr11:76895772 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.724G>T (p.Val242Phe) single nucleotide variant not provided [RCV000787853] Chr11:77156993 [GRCh38]
Chr11:76868039 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4530G>A (p.Glu1510=) single nucleotide variant not provided [RCV000979760] Chr11:77198583 [GRCh38]
Chr11:76909628 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1074del (p.Glu360fs) deletion not provided [RCV001058101] Chr11:77159517 [GRCh38]
Chr11:76870563 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114774]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114776]|Usher syndrome type 1 [RCV001114775]|Usher syndrome type 1B [RCV001828561]|not provided [RCV001308247] Chr11:77201613 [GRCh38]
Chr11:76912658 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1868G>T (p.Arg623Leu) single nucleotide variant Usher syndrome type 1B [RCV001276682]|not provided [RCV001052061] Chr11:77172818 [GRCh38]
Chr11:76883864 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1343+5C>T single nucleotide variant Usher syndrome type 1B [RCV001832509]|not provided [RCV001056541]|not specified [RCV002249664] Chr11:77161120 [GRCh38]
Chr11:76872166 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5900G>A (p.Arg1967Gln) single nucleotide variant Hearing impairment [RCV001375281]|Inborn genetic diseases [RCV002549879]|not provided [RCV000994691] Chr11:77208473 [GRCh38]
Chr11:76919518 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000988617]|Usher syndrome type 1B [RCV001272820]|not provided [RCV001060649] Chr11:77208778 [GRCh38]
Chr11:76919823 [GRCh37]
Chr11:11q13.5
pathogenic|uncertain significance
NM_000260.4(MYO7A):c.1690+4C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113840]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113838]|Usher syndrome type 1 [RCV001113839] Chr11:77162992 [GRCh38]
Chr11:76874038 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112408]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112409]|Usher syndrome type 1 [RCV001112410] Chr11:77213933 [GRCh38]
Chr11:76924978 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*100C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110532]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110531]|Usher syndrome type 1 [RCV001112499] Chr11:77214796 [GRCh38]
Chr11:76925841 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*201T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113842]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112500]|Usher syndrome type 1 [RCV001113841] Chr11:77214897 [GRCh38]
Chr11:76925942 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2764AAG[1] (p.Lys923del) microsatellite Autosomal dominant nonsyndromic hearing loss 11 [RCV001195690] Chr11:77181448..77181450 [GRCh38]
Chr11:76892494..76892496 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.254T>C (p.Leu85Pro) single nucleotide variant not provided [RCV001203144] Chr11:77147919 [GRCh38]
Chr11:76858965 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5116G>A (p.Glu1706Lys) single nucleotide variant Usher syndrome type 1B [RCV001833759]|not provided [RCV001664745]|not specified [RCV001195384] Chr11:77202372 [GRCh38]
Chr11:76913417 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1049C>T (p.Pro350Leu) single nucleotide variant Usher syndrome type 1B [RCV001827363]|not provided [RCV001058247] Chr11:77159492 [GRCh38]
Chr11:76870538 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3750+4C>T single nucleotide variant Usher syndrome type 1B [RCV001829989]|not provided [RCV001246409]|not specified [RCV003155380] Chr11:77190143 [GRCh38]
Chr11:76901188 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6205A>T (p.Ile2069Phe) single nucleotide variant not provided [RCV002561034]|not specified [RCV001195386] Chr11:77211305 [GRCh38]
Chr11:76922350 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4732G>A (p.Asp1578Asn) single nucleotide variant not specified [RCV001195390] Chr11:77199698 [GRCh38]
Chr11:76910743 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5486_5487delinsTT (p.Ser1829Ile) indel not specified [RCV001195391] Chr11:77205467..77205468 [GRCh38]
Chr11:76916512..76916513 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4917G>A (p.Thr1639=) single nucleotide variant not provided [RCV001248357] Chr11:77201512 [GRCh38]
Chr11:76912557 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.6238-2A>G single nucleotide variant not provided [RCV001230982] Chr11:77211819 [GRCh38]
Chr11:76922864 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113298]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113297]|Usher syndrome type 1 [RCV001113299]|not provided [RCV002556210] Chr11:77199655 [GRCh38]
Chr11:76910700 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1201-46C>T single nucleotide variant not provided [RCV001544662] Chr11:77160927 [GRCh38]
Chr11:76871973 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111846]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109576]|Usher syndrome type 1 [RCV001109575]|not provided [RCV002556143] Chr11:77208516 [GRCh38]
Chr11:76919561 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3750+20C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001197959]|not provided [RCV002069288] Chr11:77190159 [GRCh38]
Chr11:76901204 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3587C>A (p.Ser1196Tyr) single nucleotide variant not provided [RCV001212570] Chr11:77189427 [GRCh38]
Chr11:76900472 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6626G>A (p.Arg2209Gln) single nucleotide variant Meniere disease [RCV001526688]|Usher syndrome type 1B [RCV001836184]|not provided [RCV001230499] Chr11:77214674 [GRCh38]
Chr11:76925719 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2362G>A (p.Gly788Arg) single nucleotide variant Usher syndrome type 1B [RCV001828904]|not provided [RCV001238701] Chr11:77179124 [GRCh38]
Chr11:76890170 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4768A>G (p.Ile1590Val) single nucleotide variant Usher syndrome type 1B [RCV001279802]|not provided [RCV001241941] Chr11:77199734 [GRCh38]
Chr11:76910779 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5950G>T (p.Val1984Leu) single nucleotide variant Usher syndrome type 1B [RCV001277333]|not provided [RCV001239193] Chr11:77208702 [GRCh38]
Chr11:76919747 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1574T>G (p.Leu525Ter) single nucleotide variant not provided [RCV001203139] Chr11:77162872 [GRCh38]
Chr11:76873918 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.19-3T>C single nucleotide variant Usher syndrome type 1B [RCV001834070]|not provided [RCV001238997] Chr11:77142706 [GRCh38]
Chr11:76853752 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002484214]|Inborn genetic diseases [RCV002563051]|Usher syndrome type 1B [RCV001828787]|not provided [RCV001224189] Chr11:77203191 [GRCh38]
Chr11:76914236 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5590T>C (p.Cys1864Arg) single nucleotide variant not provided [RCV001226491] Chr11:77205571 [GRCh38]
Chr11:76916616 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6052-3C>T single nucleotide variant Usher syndrome type 1B [RCV001828810]|not provided [RCV001226492] Chr11:77211149 [GRCh38]
Chr11:76922194 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5770G>C (p.Ala1924Pro) single nucleotide variant not provided [RCV001205228] Chr11:77207316 [GRCh38]
Chr11:76918361 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001542594]|Usher syndrome type 1B [RCV001834092]|not provided [RCV001239504] Chr11:77201546 [GRCh38]
Chr11:76912591 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.3490C>T (p.Arg1164Trp) single nucleotide variant Usher syndrome type 1B [RCV001828753]|not provided [RCV001220399] Chr11:77184702 [GRCh38]
Chr11:76895747 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4465G>A (p.Val1489Ile) single nucleotide variant Usher syndrome type 1B [RCV001834061]|not provided [RCV001237699] Chr11:77198518 [GRCh38]
Chr11:76909563 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4993G>A (p.Asp1665Asn) single nucleotide variant not provided [RCV001223092] Chr11:77201588 [GRCh38]
Chr11:76912633 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.44G>T (p.Arg15Ile) single nucleotide variant not provided [RCV001240192] Chr11:77142734 [GRCh38]
Chr11:76853780 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002484324]|Usher syndrome type 1B [RCV001835102]|not provided [RCV001241415] Chr11:77181402 [GRCh38]
Chr11:76892448 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3784G>A (p.Val1262Met) single nucleotide variant Usher syndrome type 1B [RCV001828977]|not provided [RCV001241459] Chr11:77190730 [GRCh38]
Chr11:76901775 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser) single nucleotide variant not provided [RCV001243239] Chr11:77158397 [GRCh38]
Chr11:76869443 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2905-1G>C single nucleotide variant Usher syndrome type 1 [RCV001839034]|Usher syndrome type 1B [RCV001834062]|not provided [RCV001238259] Chr11:77181950 [GRCh38]
Chr11:76892996 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.1549C>T (p.Pro517Ser) single nucleotide variant not provided [RCV001243479] Chr11:77162325 [GRCh38]
Chr11:76873371 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3215C>T (p.Thr1072Ile) single nucleotide variant Usher syndrome type 1B [RCV001835174]|not provided [RCV001243521] Chr11:77182530 [GRCh38]
Chr11:76893575 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1816C>T (p.Arg606Cys) single nucleotide variant Usher syndrome type 1B [RCV001829970]|not provided [RCV001245817] Chr11:77172766 [GRCh38]
Chr11:76883812 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2225A>T (p.Lys742Ile) single nucleotide variant Usher syndrome type 1B [RCV001835119]|not provided [RCV001242096] Chr11:77177586 [GRCh38]
Chr11:76888632 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002480760]|not provided [RCV001232281] Chr11:77156083 [GRCh38]
Chr11:76867129 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp) single nucleotide variant Ear malformation [RCV001814288]|not provided [RCV001238581] Chr11:77190107 [GRCh38]
Chr11:76901152 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.1940del (p.Phe647fs) deletion not provided [RCV001226547] Chr11:77174759 [GRCh38]
Chr11:76885805 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3944_3945dup (p.Ser1316fs) duplication not provided [RCV001226078] Chr11:77192069..77192070 [GRCh38]
Chr11:76903114..76903115 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1003+1_1003+33delinsCAGTGCCTTG indel not provided [RCV001247709] Chr11:77158431..77158463 [GRCh38]
Chr11:76869477..76869509 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3056G>A (p.Arg1019Gln) single nucleotide variant Usher syndrome type 1B [RCV001834068]|not provided [RCV001238611] Chr11:77182102 [GRCh38]
Chr11:76893148 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001198381]|Inborn genetic diseases [RCV002560191]|Usher syndrome type 1B [RCV001828608]|not provided [RCV002560190]|not specified [RCV001195248] Chr11:77212959 [GRCh38]
Chr11:76924004 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1040T>C (p.Leu347Pro) single nucleotide variant not provided [RCV001207482] Chr11:77159483 [GRCh38]
Chr11:76870529 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5315T>C (p.Leu1772Pro) single nucleotide variant not provided [RCV001211517] Chr11:77203206 [GRCh38]
Chr11:76914251 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4259G>A (p.Arg1420His) single nucleotide variant Usher syndrome type 1B [RCV001833983]|not provided [RCV001229281] Chr11:77194460 [GRCh38]
Chr11:76905505 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.937A>G (p.Thr313Ala) single nucleotide variant not provided [RCV001212246] Chr11:77158364 [GRCh38]
Chr11:76869410 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4727A>G (p.Lys1576Arg) single nucleotide variant not provided [RCV001202169] Chr11:77199693 [GRCh38]
Chr11:76910738 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6193C>A (p.Pro2065Thr) single nucleotide variant not provided [RCV001247146] Chr11:77211293 [GRCh38]
Chr11:76922338 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2455C>G (p.Gln819Glu) single nucleotide variant Inborn genetic diseases [RCV003288806] Chr11:77179822 [GRCh38]
Chr11:76890868 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000988601]|not provided [RCV003128732] Chr11:77159489 [GRCh38]
Chr11:76870535 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.6439-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV000988618]|not provided [RCV001379549] Chr11:77213859 [GRCh38]
Chr11:76924904 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2056C>T (p.Arg686Cys) single nucleotide variant Usher syndrome type 1B [RCV001272500]|not provided [RCV000994687] Chr11:77174876 [GRCh38]
Chr11:76885922 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4037T>C (p.Phe1346Ser) single nucleotide variant not provided [RCV000994689] Chr11:77192163 [GRCh38]
Chr11:76903208 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5291A>G (p.Glu1764Gly) single nucleotide variant Hearing impairment [RCV001375362]|not provided [RCV000994690] Chr11:77203182 [GRCh38]
Chr11:76914227 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*38G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110525]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110526]|Usher syndrome type 1 [RCV001110527] Chr11:77214734 [GRCh38]
Chr11:76925779 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002497721]|not provided [RCV001210857] Chr11:77156907 [GRCh38]
Chr11:76867953 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3109-15C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110926]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110924]|Usher syndrome type 1 [RCV001110925] Chr11:77182409 [GRCh38]
Chr11:76893454 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111012]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111014]|Usher syndrome type 1 [RCV001111013]|not provided [RCV002464388] Chr11:77190027 [GRCh38]
Chr11:76901072 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111182]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111181]|Usher syndrome type 1 [RCV001111180]|Usher syndrome type 1B [RCV001833711]|not provided [RCV001301856] Chr11:77192254 [GRCh38]
Chr11:76903299 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4772G>A (p.Arg1591His) single nucleotide variant Inborn genetic diseases [RCV002568657]|Usher syndrome type 1B [RCV001829993]|not provided [RCV001246491] Chr11:77199738 [GRCh38]
Chr11:76910783 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5982G>A (p.Met1994Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001199231]|not provided [RCV001863138] Chr11:77208734 [GRCh38]
Chr11:76919779 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5420_5421dup (p.Pro1808fs) duplication not provided [RCV001008305] Chr11:77204167..77204168 [GRCh38]
Chr11:76915212..76915213 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.655_660del (p.Ile219_His220del) deletion not provided [RCV001090421] Chr11:77156922..77156927 [GRCh38]
Chr11:76867968..76867973 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4152+6dup duplication not provided [RCV001091733] Chr11:77192283..77192284 [GRCh38]
Chr11:76903328..76903329 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4118G>C (p.Arg1373Pro) single nucleotide variant not provided [RCV001230333] Chr11:77192244 [GRCh38]
Chr11:76903289 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1771C>T (p.Gln591Ter) single nucleotide variant not provided [RCV001230334] Chr11:77166136 [GRCh38]
Chr11:76877182 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5378A>G (p.Asn1793Ser) single nucleotide variant Usher syndrome type 1B [RCV001833859]|not provided [RCV001212085] Chr11:77204127 [GRCh38]
Chr11:76915172 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110162]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110161]|Usher syndrome type 1 [RCV001110923] Chr11:77182136 [GRCh38]
Chr11:76893182 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111008]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110265]|Usher syndrome type 1 [RCV001111009]|Usher syndrome type 1B [RCV001279791]|not provided [RCV001476549] Chr11:77189434 [GRCh38]
Chr11:76900479 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro) single nucleotide variant Usher syndrome type 2 [RCV001199712] Chr11:77174817 [GRCh38]
Chr11:76885863 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1929G>T (p.Lys643Asn) single nucleotide variant not provided [RCV001213014] Chr11:77172879 [GRCh38]
Chr11:76883925 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3853A>C (p.Asn1285His) single nucleotide variant not provided [RCV003105235] Chr11:77190799 [GRCh38]
Chr11:76901844 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1709G>A (p.Arg570Gln) single nucleotide variant not provided [RCV003105010]|not specified [RCV003331452] Chr11:77166074 [GRCh38]
Chr11:76877120 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5620C>A (p.Leu1874Ile) single nucleotide variant not provided [RCV003234330] Chr11:77205601 [GRCh38]
Chr11:76916646 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1691-128_1691-127insT insertion not provided [RCV001550112] Chr11:77165928..77165929 [GRCh38]
Chr11:76876974..76876975 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.470+117C>T single nucleotide variant not provided [RCV001550220] Chr11:77156208 [GRCh38]
Chr11:76867254 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6356A>G (p.Gln2119Arg) single nucleotide variant not provided [RCV001663770] Chr11:77212953 [GRCh38]
Chr11:76923998 [GRCh37]
Chr11:11q13.5
likely pathogenic|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.1004-215G>A single nucleotide variant not provided [RCV001546009] Chr11:77159232 [GRCh38]
Chr11:76870278 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3504-265C>T single nucleotide variant not provided [RCV001565574] Chr11:77189079 [GRCh38]
Chr11:76900124 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4153-8C>A single nucleotide variant not provided [RCV001552327] Chr11:77194346 [GRCh38]
Chr11:76905391 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1004-228G>A single nucleotide variant not provided [RCV001575070] Chr11:77159219 [GRCh38]
Chr11:76870265 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6354+324G>A single nucleotide variant not provided [RCV001559903] Chr11:77212261 [GRCh38]
Chr11:76923306 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5481-43C>T single nucleotide variant not provided [RCV001599150] Chr11:77205419 [GRCh38]
Chr11:76916464 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6354+35G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533377]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533378]|Usher syndrome type 1 [RCV001533379]|not provided [RCV001619946] Chr11:77211972 [GRCh38]
Chr11:76923017 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.4441+148A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533398]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533399]|Usher syndrome type 1 [RCV001533400] Chr11:77197746 [GRCh38]
Chr11:76908791 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1004-40A>C single nucleotide variant not provided [RCV001647905] Chr11:77159407 [GRCh38]
Chr11:76870453 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3925-63G>A single nucleotide variant not provided [RCV001684529] Chr11:77191988 [GRCh38]
Chr11:76903033 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1690+286C>T single nucleotide variant not provided [RCV001684195] Chr11:77163274 [GRCh38]
Chr11:76874320 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.632G>A (p.Ser211Asn) single nucleotide variant not provided [RCV001549866] Chr11:77156901 [GRCh38]
Chr11:76867947 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.849+230C>T single nucleotide variant not provided [RCV001560791] Chr11:77157622 [GRCh38]
Chr11:76868668 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.133-182T>C single nucleotide variant not provided [RCV001725273] Chr11:77147616 [GRCh38]
Chr11:76858662 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3013G>A (p.Ala1005Thr) single nucleotide variant Usher syndrome type 1B [RCV001832764]|not provided [RCV001561081] Chr11:77182059 [GRCh38]
Chr11:76893105 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6559-43T>C single nucleotide variant not provided [RCV001651710] Chr11:77214564 [GRCh38]
Chr11:76925609 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4441+159T>C single nucleotide variant not provided [RCV001596459] Chr11:77197757 [GRCh38]
Chr11:76908802 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2095-37G>T single nucleotide variant not provided [RCV001583783] Chr11:77175335 [GRCh38]
Chr11:76886381 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1797+55A>G single nucleotide variant not provided [RCV001637284] Chr11:77166217 [GRCh38]
Chr11:76877263 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2905-149dup duplication not provided [RCV001539631] Chr11:77181779..77181780 [GRCh38]
Chr11:76892825..76892826 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1344-28C>A single nucleotide variant not provided [RCV001636325] Chr11:77162092 [GRCh38]
Chr11:76873138 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.735+64C>A single nucleotide variant not provided [RCV001576719] Chr11:77157068 [GRCh38]
Chr11:76868114 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1935+292T>C single nucleotide variant not provided [RCV001598902] Chr11:77173177 [GRCh38]
Chr11:76884223 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3108+38G>A single nucleotide variant not provided [RCV001556594] Chr11:77182192 [GRCh38]
Chr11:76893238 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4442-70G>A single nucleotide variant not provided [RCV001716131] Chr11:77198425 [GRCh38]
Chr11:76909470 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2487G>A (p.Val829=) single nucleotide variant Usher syndrome type 1B [RCV001827526]|not provided [RCV001586816] Chr11:77179854 [GRCh38]
Chr11:76890900 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp) single nucleotide variant Usher syndrome type 1B [RCV001827468]|not provided [RCV001557052] Chr11:77206107 [GRCh38]
Chr11:76917152 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6559-26G>A single nucleotide variant not provided [RCV001669558] Chr11:77214581 [GRCh38]
Chr11:76925626 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3504-52G>A single nucleotide variant not provided [RCV001562772] Chr11:77189292 [GRCh38]
Chr11:76900337 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6295G>C (p.Ala2099Pro) single nucleotide variant not provided [RCV001963959] Chr11:77211878 [GRCh38]
Chr11:76922923 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2587-121C>A single nucleotide variant not provided [RCV001584920] Chr11:77180253 [GRCh38]
Chr11:76891299 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5636+42C>T single nucleotide variant not provided [RCV001592345] Chr11:77205659 [GRCh38]
Chr11:76916704 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1555-129C>T single nucleotide variant not provided [RCV001551843] Chr11:77162724 [GRCh38]
Chr11:76873770 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4153-88A>C single nucleotide variant not provided [RCV001563226] Chr11:77194266 [GRCh38]
Chr11:76905311 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1344-242_1344-241insT insertion not provided [RCV001587723] Chr11:77161878..77161879 [GRCh38]
Chr11:76872924..76872925 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3924+39C>A single nucleotide variant not provided [RCV001614000] Chr11:77190909 [GRCh38]
Chr11:76901954 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6558+279G>A single nucleotide variant not provided [RCV001551929] Chr11:77214258 [GRCh38]
Chr11:76925303 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3285+67A>G single nucleotide variant not provided [RCV001558328] Chr11:77182667 [GRCh38]
Chr11:76893712 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4568+172G>C single nucleotide variant not provided [RCV001643843] Chr11:77198793 [GRCh38]
Chr11:76909838 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4153-276A>G single nucleotide variant not provided [RCV001620616] Chr11:77194078 [GRCh38]
Chr11:76905123 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1555-42T>C single nucleotide variant not provided [RCV001587943] Chr11:77162811 [GRCh38]
Chr11:76873857 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6558+248C>T single nucleotide variant not provided [RCV001540988] Chr11:77214227 [GRCh38]
Chr11:76925272 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.286-246T>C single nucleotide variant not provided [RCV001689568] Chr11:77155661 [GRCh38]
Chr11:76866707 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2905-151_2905-149del deletion not provided [RCV001558687] Chr11:77181780..77181782 [GRCh38]
Chr11:76892826..76892828 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5326+51C>T single nucleotide variant not provided [RCV001566465] Chr11:77203268 [GRCh38]
Chr11:76914313 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6439-107G>A single nucleotide variant not provided [RCV001616587] Chr11:77213753 [GRCh38]
Chr11:76924798 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3925-141T>A single nucleotide variant not provided [RCV001583247] Chr11:77191910 [GRCh38]
Chr11:76902955 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2905-174_2905-173del deletion not provided [RCV001574185] Chr11:77181768..77181769 [GRCh38]
Chr11:76892814..76892815 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2905-157T>G single nucleotide variant not provided [RCV001716790] Chr11:77181794 [GRCh38]
Chr11:76892840 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2095-112G>C single nucleotide variant not provided [RCV001716791] Chr11:77175260 [GRCh38]
Chr11:76886306 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=) single nucleotide variant Usher syndrome type 1B [RCV001276698]|not provided [RCV000930860]|not specified [RCV001195463] Chr11:77182585 [GRCh38]
Chr11:76893630 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1003+10C>T single nucleotide variant Usher syndrome type 1B [RCV001274695]|not provided [RCV000933519] Chr11:77158440 [GRCh38]
Chr11:76869486 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5781C>T (p.Phe1927=) single nucleotide variant not provided [RCV000979152] Chr11:77207327 [GRCh38]
Chr11:76918372 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.5374G>A (p.Val1792Ile) single nucleotide variant not provided [RCV000910594] Chr11:77204123 [GRCh38]
Chr11:76915168 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile) single nucleotide variant Usher syndrome type 1B [RCV001272801]|not provided [RCV000941085] Chr11:77201600 [GRCh38]
Chr11:76912645 [GRCh37]
Chr11:11q13.5
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1461C>T (p.Ile487=) single nucleotide variant Usher syndrome type 1B [RCV001274701]|not provided [RCV000907991] Chr11:77162237 [GRCh38]
Chr11:76873283 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.801G>A (p.Lys267=) single nucleotide variant not provided [RCV000931731] Chr11:77157344 [GRCh38]
Chr11:76868390 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5743-10C>G single nucleotide variant not provided [RCV000888001] Chr11:77207279 [GRCh38]
Chr11:76918324 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3093C>T (p.Asp1031=) single nucleotide variant not provided [RCV000927814] Chr11:77182139 [GRCh38]
Chr11:76893185 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1188C>T (p.Asp396=) single nucleotide variant not provided [RCV000980340] Chr11:77160270 [GRCh38]
Chr11:76871316 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2553C>T (p.Ile851=) single nucleotide variant not provided [RCV000977362] Chr11:77179920 [GRCh38]
Chr11:76890966 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6355-8T>C single nucleotide variant not provided [RCV000909207] Chr11:77212944 [GRCh38]
Chr11:76923989 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4441+78_4441+147del microsatellite not provided [RCV000910067] Chr11:77197582..77197651 [GRCh38]
Chr11:76908627..76908696 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=) single nucleotide variant Usher syndrome type 1B [RCV001271760]|not provided [RCV000980121]|not specified [RCV001195465] Chr11:77197519 [GRCh38]
Chr11:76908564 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=) single nucleotide variant Usher syndrome type 1B [RCV001274813]|not provided [RCV000879306] Chr11:77213967 [GRCh38]
Chr11:76925012 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg) single nucleotide variant Usher syndrome type 1B [RCV001272818]|not provided [RCV000928316] Chr11:77208721 [GRCh38]
Chr11:76919766 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5151T>C (p.Phe1717=) single nucleotide variant not provided [RCV000930122] Chr11:77202407 [GRCh38]
Chr11:76913452 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5109G>A (p.Ala1703=) single nucleotide variant Usher syndrome type 1B [RCV001272804]|not provided [RCV000925970]|not specified [RCV001701363] Chr11:77202365 [GRCh38]
Chr11:76913410 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.78G>A (p.Ala26=) single nucleotide variant Usher syndrome type 1B [RCV001274687]|not provided [RCV000928612] Chr11:77142768 [GRCh38]
Chr11:76853814 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3012C>T (p.Phe1004=) single nucleotide variant not provided [RCV000929884] Chr11:77182058 [GRCh38]
Chr11:76893104 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.102G>A (p.Gly34=) single nucleotide variant not provided [RCV000975869] Chr11:77142792 [GRCh38]
Chr11:76853838 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1890C>G (p.Pro630=) single nucleotide variant not provided [RCV000978170] Chr11:77172840 [GRCh38]
Chr11:76883886 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113295]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111286]|Usher syndrome type 1 [RCV001113296]|Usher syndrome type 1B [RCV001271764]|not provided [RCV000897829] Chr11:77199613 [GRCh38]
Chr11:76910658 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.470+7G>A single nucleotide variant not provided [RCV000932814] Chr11:77156098 [GRCh38]
Chr11:76867144 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5604C>T (p.Ile1868=) single nucleotide variant not provided [RCV000932816] Chr11:77205585 [GRCh38]
Chr11:76916630 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5472C>T (p.Asn1824=) single nucleotide variant not provided [RCV000932822] Chr11:77204221 [GRCh38]
Chr11:76915266 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.519G>A (p.Gln173=) single nucleotide variant Usher syndrome type 1B [RCV001274689]|not provided [RCV000938258] Chr11:77156708 [GRCh38]
Chr11:76867754 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3750+15_3750+38del deletion not provided [RCV000886349] Chr11:77190149..77190172 [GRCh38]
Chr11:76901194..76901217 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6486C>T (p.Ser2162=) single nucleotide variant Usher syndrome type 1B [RCV001274812]|not provided [RCV000978632] Chr11:77213907 [GRCh38]
Chr11:76924952 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.133_153dup duplication not provided [RCV000930078] Chr11:77147791..77147792 [GRCh38]
Chr11:76858837..76858838 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.5418C>A (p.Ala1806=) single nucleotide variant not provided [RCV000932986] Chr11:77204167 [GRCh38]
Chr11:76915212 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3489G>A (p.Leu1163=) single nucleotide variant Usher syndrome type 1B [RCV001271746]|not provided [RCV000982634] Chr11:77184701 [GRCh38]
Chr11:76895746 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1581G>A (p.Lys527=) single nucleotide variant not provided [RCV000977799] Chr11:77162879 [GRCh38]
Chr11:76873925 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2172C>T (p.Thr724=) single nucleotide variant not provided [RCV000982063] Chr11:77175449 [GRCh38]
Chr11:76886495 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1611C>T (p.Asn537=) single nucleotide variant not provided [RCV000933497] Chr11:77162909 [GRCh38]
Chr11:76873955 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001198584]|not provided [RCV001859204] Chr11:77213006 [GRCh38]
Chr11:76924051 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1916A>G (p.Asn639Ser) single nucleotide variant Usher syndrome type 1B [RCV001827431]|not provided [RCV001066758] Chr11:77172866 [GRCh38]
Chr11:76883912 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3729dup (p.Pro1244fs) duplication not provided [RCV001207150] Chr11:77190117..77190118 [GRCh38]
Chr11:76901162..76901163 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5887_5889del (p.Phe1963del) deletion not provided [RCV001210444] Chr11:77208460..77208462 [GRCh38]
Chr11:76919505..76919507 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5080G>A (p.Val1694Ile) single nucleotide variant Usher syndrome type 1B [RCV001834073]|not provided [RCV001239048] Chr11:77202336 [GRCh38]
Chr11:76913381 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3330G>C (p.Lys1110Asn) single nucleotide variant not provided [RCV001247609] Chr11:77183112 [GRCh38]
Chr11:76894157 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5566C>T (p.Arg1856Cys) single nucleotide variant Usher syndrome type 1B [RCV001829935]|not provided [RCV001244691] Chr11:77205547 [GRCh38]
Chr11:76916592 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.813C>T (p.Gly271=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113654]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112310]|Usher syndrome type 1 [RCV001112311]|not provided [RCV001478941] Chr11:77157356 [GRCh38]
Chr11:76868402 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114119]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114118]|Usher syndrome type 1 [RCV001114120]|not provided [RCV001288312]|not specified [RCV001195464] Chr11:77180385 [GRCh38]
Chr11:76891431 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001089550] Chr11:77175397 [GRCh38]
Chr11:76886443 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1201-12A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112403]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112402]|Usher syndrome type 1 [RCV001112404]|not provided [RCV002069813] Chr11:77160961 [GRCh38]
Chr11:76872007 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3751-14T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110348]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110349]|Usher syndrome type 1 [RCV001114383] Chr11:77190683 [GRCh38]
Chr11:76901728 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6392T>C (p.Ile2131Thr) single nucleotide variant Usher syndrome type 1B [RCV001828922]|not provided [RCV001239488] Chr11:77212989 [GRCh38]
Chr11:76924034 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2003G>A (p.Arg668His) single nucleotide variant not provided [RCV001243218] Chr11:77174823 [GRCh38]
Chr11:76885869 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4852G>A (p.Ala1618Thr) single nucleotide variant Usher syndrome type 1B [RCV001829946]|not provided [RCV001245047] Chr11:77199818 [GRCh38]
Chr11:76910863 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5146G>T (p.Glu1716Ter) single nucleotide variant Usher syndrome type 1B [RCV001833964]|not provided [RCV001227348] Chr11:77202402 [GRCh38]
Chr11:76913447 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113481]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113479]|Usher syndrome type 1 [RCV001113480]|not provided [RCV001856495] Chr11:77203077 [GRCh38]
Chr11:76914122 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6135G>C (p.Lys2045Asn) single nucleotide variant not provided [RCV001230968] Chr11:77211235 [GRCh38]
Chr11:76922280 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4940G>C (p.Gly1647Ala) single nucleotide variant Usher syndrome type 1B [RCV001834001]|not provided [RCV001231022] Chr11:77201535 [GRCh38]
Chr11:76912580 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4285G>A (p.Glu1429Lys) single nucleotide variant Usher syndrome type 1B [RCV001829037]|not provided [RCV001243587] Chr11:77194486 [GRCh38]
Chr11:76905531 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp) single nucleotide variant Usher syndrome type 1B [RCV001279804]|not provided [RCV001245315] Chr11:77199770 [GRCh38]
Chr11:76910815 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.5162A>G (p.Tyr1721Cys) single nucleotide variant Usher syndrome type 1B [RCV001835239]|not provided [RCV001245419] Chr11:77202418 [GRCh38]
Chr11:76913463 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002489715]|Usher syndrome type 1B [RCV001833676]|not provided [RCV001071637] Chr11:77179771 [GRCh38]
Chr11:76890817 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3887G>A (p.Arg1296Gln) single nucleotide variant not provided [RCV001243799] Chr11:77190833 [GRCh38]
Chr11:76901878 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1961G>A (p.Arg654His) single nucleotide variant Usher syndrome type 1B [RCV001833836]|not provided [RCV001208944] Chr11:77174781 [GRCh38]
Chr11:76885827 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5156_5157del (p.Ser1718_Tyr1719insTer) deletion not provided [RCV001209036] Chr11:77202411..77202412 [GRCh38]
Chr11:76913456..76913457 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3607G>T (p.Ala1203Ser) single nucleotide variant Usher syndrome type 1B [RCV001835186]|not provided [RCV001243889] Chr11:77189447 [GRCh38]
Chr11:76900492 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4153-7C>G single nucleotide variant Usher syndrome type 1B [RCV001835173]|not provided [RCV001243517] Chr11:77194347 [GRCh38]
Chr11:76905392 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4759G>T (p.Ala1587Ser) single nucleotide variant Usher syndrome type 1B [RCV001833810]|not provided [RCV001206308] Chr11:77199725 [GRCh38]
Chr11:76910770 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter) single nucleotide variant not provided [RCV001217557] Chr11:77197555 [GRCh38]
Chr11:76908600 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5458C>G (p.Gln1820Glu) single nucleotide variant Usher syndrome type 1B [RCV001827377]|not provided [RCV001059915] Chr11:77204207 [GRCh38]
Chr11:76915252 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.982C>T (p.Leu328=) single nucleotide variant not provided [RCV000934454] Chr11:77158409 [GRCh38]
Chr11:76869455 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.879G>A (p.Val293=) single nucleotide variant not provided [RCV000890137] Chr11:77158306 [GRCh38]
Chr11:76869352 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5636+8G>A single nucleotide variant not provided [RCV000913728] Chr11:77205625 [GRCh38]
Chr11:76916670 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1357T>C (p.Cys453Arg) single nucleotide variant not provided [RCV003011723] Chr11:77162133 [GRCh38]
Chr11:76873179 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578722]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578723]|Usher syndrome type 1 [RCV001578724]|not provided [RCV001751803] Chr11:77190053 [GRCh38]
Chr11:76901098 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2905-172_2905-164del deletion not provided [RCV001570259] Chr11:77181771..77181779 [GRCh38]
Chr11:76892817..76892825 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1343+32C>T single nucleotide variant not provided [RCV001575358] Chr11:77161147 [GRCh38]
Chr11:76872193 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.183del (p.Thr62fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000988598]|not provided [RCV002549717] Chr11:77147845 [GRCh38]
Chr11:76858891 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV000988602] Chr11:77160278..77160279 [GRCh38]
Chr11:76871324..76871325 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2750del (p.Glu917fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV000988607]|not provided [RCV001869356] Chr11:77181435 [GRCh38]
Chr11:76892481 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1118G>T (p.Arg373Leu) single nucleotide variant Usher syndrome type 1B [RCV001827475]|not provided [RCV001560018] Chr11:77160200 [GRCh38]
Chr11:76871246 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2694+194G>C single nucleotide variant not provided [RCV001635777] Chr11:77180675 [GRCh38]
Chr11:76891721 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3286-229A>G single nucleotide variant not provided [RCV001594075] Chr11:77182839 [GRCh38]
Chr11:76893884 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2905-172_2905-162del deletion not provided [RCV001568621] Chr11:77181769..77181779 [GRCh38]
Chr11:76892815..76892825 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3504-39T>C single nucleotide variant not provided [RCV001554982] Chr11:77189305 [GRCh38]
Chr11:76900350 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5326+95G>A single nucleotide variant not provided [RCV001560383] Chr11:77203312 [GRCh38]
Chr11:76914357 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.736-117C>G single nucleotide variant not provided [RCV001560415] Chr11:77157162 [GRCh38]
Chr11:76868208 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3924+247C>T single nucleotide variant not provided [RCV001555290] Chr11:77191117 [GRCh38]
Chr11:76902162 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1797+51C>T single nucleotide variant not provided [RCV001555328] Chr11:77166213 [GRCh38]
Chr11:76877259 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1201-316G>A single nucleotide variant not provided [RCV001555602] Chr11:77160657 [GRCh38]
Chr11:76871703 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3925-119C>T single nucleotide variant not provided [RCV001561228] Chr11:77191932 [GRCh38]
Chr11:76902977 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5857-29_5857-25dup duplication not provided [RCV001566464] Chr11:77208400..77208401 [GRCh38]
Chr11:76919445..76919446 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.850-328G>T single nucleotide variant not provided [RCV001556103] Chr11:77157949 [GRCh38]
Chr11:76868995 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2534C>T (p.Ala845Val) single nucleotide variant Inborn genetic diseases [RCV003295172] Chr11:77179901 [GRCh38]
Chr11:76890947 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5458C>T (p.Gln1820Ter) single nucleotide variant not provided [RCV001053710] Chr11:77204207 [GRCh38]
Chr11:76915252 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.321_322insA (p.Tyr108fs) insertion not provided [RCV001008197] Chr11:77155942..77155943 [GRCh38]
Chr11:76866988..76866989 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5481-84C>T single nucleotide variant not provided [RCV001593316] Chr11:77205378 [GRCh38]
Chr11:76916423 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5326+90G>A single nucleotide variant not provided [RCV001618075] Chr11:77203307 [GRCh38]
Chr11:76914352 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6051+130C>T single nucleotide variant not provided [RCV001677030] Chr11:77208933 [GRCh38]
Chr11:76919978 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5168+318G>A single nucleotide variant not provided [RCV001619635] Chr11:77202742 [GRCh38]
Chr11:76913787 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.132+133C>G single nucleotide variant not provided [RCV001621478] Chr11:77142955 [GRCh38]
Chr11:76854001 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4074C>A (p.Ser1358=) single nucleotide variant not provided [RCV001727927]|not specified [RCV001699848] Chr11:77192200 [GRCh38]
Chr11:76903245 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.2695-88T>C single nucleotide variant not provided [RCV001688822] Chr11:77181292 [GRCh38]
Chr11:76892338 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5742+155C>T single nucleotide variant not provided [RCV001593336] Chr11:77206357 [GRCh38]
Chr11:76917402 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5043+131A>G single nucleotide variant not provided [RCV001619462] Chr11:77201769 [GRCh38]
Chr11:76912814 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5169-189G>A single nucleotide variant not provided [RCV001536618] Chr11:77202871 [GRCh38]
Chr11:76913916 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter) single nucleotide variant not provided [RCV001723297] Chr11:77183071 [GRCh38]
Chr11:76894116 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2905-180_2905-179insGTT insertion not provided [RCV001714010] Chr11:77181769..77181770 [GRCh38]
Chr11:76892815..76892816 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6051+98C>A single nucleotide variant not provided [RCV001716567] Chr11:77208901 [GRCh38]
Chr11:76919946 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5856+58C>T single nucleotide variant not provided [RCV001597945] Chr11:77207460 [GRCh38]
Chr11:76918505 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1691-195T>C single nucleotide variant not provided [RCV001717797] Chr11:77165861 [GRCh38]
Chr11:76876907 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6355-278G>A single nucleotide variant not provided [RCV001580948] Chr11:77212674 [GRCh38]
Chr11:76923719 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5327-301C>G single nucleotide variant not provided [RCV001581006] Chr11:77203775 [GRCh38]
Chr11:76914820 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3276C>T (p.Gly1092=) single nucleotide variant Usher syndrome type 1B [RCV001832836]|not provided [RCV001663353] Chr11:77182591 [GRCh38]
Chr11:76893636 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6559-255G>C single nucleotide variant not provided [RCV001675400] Chr11:77214352 [GRCh38]
Chr11:76925397 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2905-150_2905-149del deletion not provided [RCV001719672] Chr11:77181780..77181781 [GRCh38]
Chr11:76892826..76892827 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2094+162G>A single nucleotide variant not provided [RCV001719673] Chr11:77175076 [GRCh38]
Chr11:76886122 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.284A>G (p.Tyr95Cys) single nucleotide variant not provided [RCV001564693] Chr11:77147949 [GRCh38]
Chr11:76858995 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6237+234del deletion not provided [RCV001717794] Chr11:77211570 [GRCh38]
Chr11:76922615 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002496024]|not provided [RCV001699768] Chr11:77207295 [GRCh38]
Chr11:76918340 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2695-247G>A single nucleotide variant not provided [RCV001669735] Chr11:77181133 [GRCh38]
Chr11:76892179 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.133-128C>G single nucleotide variant not provided [RCV001674377] Chr11:77147670 [GRCh38]
Chr11:76858716 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2282+177T>C single nucleotide variant not provided [RCV001716297] Chr11:77177820 [GRCh38]
Chr11:76888866 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2517T>C (p.Ala839=) single nucleotide variant not provided [RCV001727936]|not specified [RCV001699733] Chr11:77179884 [GRCh38]
Chr11:76890930 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.1003+179G>A single nucleotide variant not provided [RCV001638450] Chr11:77158609 [GRCh38]
Chr11:76869655 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109031]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109032]|Usher syndrome type 1 [RCV001109033]|not provided [RCV001207900] Chr11:77199728 [GRCh38]
Chr11:76910773 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5327-10C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109247]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109246]|Usher syndrome type 1 [RCV001111575] Chr11:77204066 [GRCh38]
Chr11:76915111 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109813]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109815]|Usher syndrome type 1 [RCV001109814] Chr11:77166084 [GRCh38]
Chr11:76877130 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*392A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109822]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110611]|Usher syndrome type 1 [RCV001109823]|not provided [RCV001786434] Chr11:77215088 [GRCh38]
Chr11:76926133 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110002]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110000]|Inborn genetic diseases [RCV003163257]|Usher syndrome type 1 [RCV001110001]|not provided [RCV001856470] Chr11:77179777 [GRCh38]
Chr11:76890823 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) single nucleotide variant Retinal dystrophy [RCV001075520]|Usher syndrome type 1B [RCV001827221]|not provided [RCV001037188] Chr11:77192166 [GRCh38]
Chr11:76903211 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.495G>A (p.Thr165=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111774]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111772]|Usher syndrome type 1 [RCV001111773]|not provided [RCV001862884] Chr11:77156684 [GRCh38]
Chr11:76867730 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112313]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112312]|Usher syndrome type 1 [RCV001111850] Chr11:77208715 [GRCh38]
Chr11:76919760 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112052]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111579]|Usher syndrome type 1 [RCV001112051]|not provided [RCV001471251] Chr11:77204146 [GRCh38]
Chr11:76915191 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2838del (p.Met946fs) deletion not provided [RCV001069008] Chr11:77181523 [GRCh38]
Chr11:76892569 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112843]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112845]|Usher syndrome type 1 [RCV001112844] Chr11:77181472 [GRCh38]
Chr11:76892518 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113188]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113189]|Usher syndrome type 1 [RCV001113190] Chr11:77197589 [GRCh38]
Chr11:76908634 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.37G>C (p.Asp13His) single nucleotide variant Usher syndrome type 1B [RCV001828521]|not provided [RCV001069821] Chr11:77142727 [GRCh38]
Chr11:76853773 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2694+1G>A single nucleotide variant Retinal dystrophy [RCV001075695]|not provided [RCV001053752] Chr11:77180482 [GRCh38]
Chr11:76891528 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001113658]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113660]|Usher syndrome type 1 [RCV001113659]|not provided [RCV001435998] Chr11:77211211 [GRCh38]
Chr11:76922256 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3865G>A (p.Asp1289Asn) single nucleotide variant Usher syndrome type 1B [RCV001827362]|not provided [RCV001057963] Chr11:77190811 [GRCh38]
Chr11:76901856 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109744]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109742]|Usher syndrome type 1 [RCV001109743]|Usher syndrome type 1B [RCV001277343]|not provided [RCV002556146] Chr11:77214680 [GRCh38]
Chr11:76925725 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1797+13C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109817]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109818]|Usher syndrome type 1 [RCV001109816]|not provided [RCV001856467] Chr11:77166175 [GRCh38]
Chr11:76877221 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.*315C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001109821]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109819]|Usher syndrome type 1 [RCV001109820] Chr11:77215011 [GRCh38]
Chr11:76926056 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110440]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110441]|Usher syndrome type 1 [RCV001110439]|not provided [RCV001213029] Chr11:77192177 [GRCh38]
Chr11:76903222 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*75C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110530]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110528]|Usher syndrome type 1 [RCV001110529] Chr11:77214771 [GRCh38]
Chr11:76925816 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.*416C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110612]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110614]|Usher syndrome type 1 [RCV001110613] Chr11:77215112 [GRCh38]
Chr11:76926157 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.*440G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110617]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110615]|Usher syndrome type 1 [RCV001110616] Chr11:77215136 [GRCh38]
Chr11:76926181 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.735+3G>A single nucleotide variant Usher syndrome type 1B [RCV001274693]|not provided [RCV001064523] Chr11:77157007 [GRCh38]
Chr11:76868053 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111092]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111094]|Usher syndrome type 1 [RCV001111093] Chr11:77190808 [GRCh38]
Chr11:76901853 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002476887]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001580738] Chr11:77190047 [GRCh38]
Chr11:76901092 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001580740]|Usher syndrome type 1 [RCV001580741] Chr11:77213885 [GRCh38]
Chr11:76924930 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2905-153_2905-149del deletion not provided [RCV001588180] Chr11:77181780..77181784 [GRCh38]
Chr11:76892826..76892830 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3750+57GT[6] microsatellite not provided [RCV001588734] Chr11:77190196..77190197 [GRCh38]
Chr11:76901241..76901242 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2355del (p.Asn786fs) deletion Usher syndrome type 1 [RCV001004380] Chr11:77179117 [GRCh38]
Chr11:76890163 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3108+82dup duplication not provided [RCV001650047] Chr11:77182234..77182235 [GRCh38]
Chr11:76893280..76893281 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1690+116AT[9] microsatellite not provided [RCV001671400] Chr11:77163103..77163104 [GRCh38]
Chr11:76874149..76874150 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu) single nucleotide variant MYO7A-related condition [RCV003405287]|Usher syndrome type 1B [RCV001275893]|not provided [RCV001067781]|not specified [RCV001195388] Chr11:77156737 [GRCh38]
Chr11:76867783 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2905-162T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533335]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533336]|Usher syndrome type 1 [RCV001533337]|not provided [RCV001647369] Chr11:77181789 [GRCh38]
Chr11:76892835 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4441+89T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533395]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533396]|Usher syndrome type 1 [RCV001533397] Chr11:77197687 [GRCh38]
Chr11:76908732 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5637-36C>T single nucleotide variant not provided [RCV001691194] Chr11:77206061 [GRCh38]
Chr11:76917106 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3375+261C>T single nucleotide variant not provided [RCV001707410] Chr11:77183418 [GRCh38]
Chr11:76894463 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6558+25A>G single nucleotide variant not provided [RCV001640801] Chr11:77214004 [GRCh38]
Chr11:76925049 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2587-155G>A single nucleotide variant not provided [RCV001589599] Chr11:77180219 [GRCh38]
Chr11:76891265 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3376-193C>T single nucleotide variant not provided [RCV001691260] Chr11:77184395 [GRCh38]
Chr11:76895440 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1935+203del deletion not provided [RCV001613980] Chr11:77173083 [GRCh38]
Chr11:76884129 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6089del (p.Thr2030fs) deletion not provided [RCV001543514] Chr11:77211189 [GRCh38]
Chr11:76922234 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5327-406G>T single nucleotide variant not provided [RCV001649079] Chr11:77203670 [GRCh38]
Chr11:76914715 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6558+238A>G single nucleotide variant not provided [RCV001650069] Chr11:77214217 [GRCh38]
Chr11:76925262 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.785T>G (p.Met262Arg) single nucleotide variant Retinitis pigmentosa [RCV001591802] Chr11:77157328 [GRCh38]
Chr11:76868374 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2587-111_2587-110insTGCCAAATTATTTGGC insertion not provided [RCV001680348] Chr11:77180262..77180263 [GRCh38]
Chr11:76891308..76891309 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4442-398C>T single nucleotide variant not provided [RCV001669545] Chr11:77198097 [GRCh38]
Chr11:76909142 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5480+231A>G single nucleotide variant not provided [RCV001589952] Chr11:77204460 [GRCh38]
Chr11:76915505 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5326+101A>C single nucleotide variant not provided [RCV001536197] Chr11:77203318 [GRCh38]
Chr11:76914363 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3924+87G>A single nucleotide variant not provided [RCV001641039] Chr11:77190957 [GRCh38]
Chr11:76902002 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.285+73C>T single nucleotide variant not provided [RCV001651850] Chr11:77148023 [GRCh38]
Chr11:76859069 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5945-9G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111848]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111849]|Usher syndrome type 1 [RCV001111847] Chr11:77208688 [GRCh38]
Chr11:76919733 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6354+300G>A single nucleotide variant not provided [RCV001581316] Chr11:77212237 [GRCh38]
Chr11:76923282 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3924+96C>T single nucleotide variant not provided [RCV001583749] Chr11:77190966 [GRCh38]
Chr11:76902011 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3750+8C>T single nucleotide variant Usher syndrome type 1B [RCV001272515]|not provided [RCV001065863] Chr11:77190147 [GRCh38]
Chr11:76901192 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110853]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112842]|Usher syndrome type 1 [RCV001110852]|Usher syndrome type 1B [RCV001833710]|not provided [RCV001245665] Chr11:77181440 [GRCh38]
Chr11:76892486 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4853-87A>C single nucleotide variant not provided [RCV001682408] Chr11:77201361 [GRCh38]
Chr11:76912406 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1343+121G>A single nucleotide variant not provided [RCV001696554] Chr11:77161236 [GRCh38]
Chr11:76872282 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578629]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578630]|Usher syndrome type 1 [RCV001578631]|not provided [RCV002072278] Chr11:77190771 [GRCh38]
Chr11:76901816 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5856+289A>G single nucleotide variant not provided [RCV001530761] Chr11:77207691 [GRCh38]
Chr11:76918736 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2758C>G (p.Arg920Gly) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001095757] Chr11:77181443 [GRCh38]
Chr11:76892489 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.613A>G (p.Ile205Val) single nucleotide variant not provided [RCV001047349] Chr11:77156882 [GRCh38]
Chr11:76867928 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3957dup (p.Met1320fs) duplication not provided [RCV001047384] Chr11:77192082..77192083 [GRCh38]
Chr11:76903127..76903128 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002480775]|Usher syndrome type 1B [RCV001828883]|not provided [RCV001236711] Chr11:77192129 [GRCh38]
Chr11:76903174 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1655A>G (p.Asn552Ser) single nucleotide variant Usher syndrome type 1B [RCV001833832]|not provided [RCV001208431] Chr11:77162953 [GRCh38]
Chr11:76873999 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.285C>A (p.Tyr95Ter) single nucleotide variant not provided [RCV001208462] Chr11:77147950 [GRCh38]
Chr11:76858996 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4470C>G (p.Ile1490Met) single nucleotide variant not provided [RCV001204856] Chr11:77198523 [GRCh38]
Chr11:76909568 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1426G>T (p.Glu476Ter) single nucleotide variant not provided [RCV001234814] Chr11:77162202 [GRCh38]
Chr11:76873248 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2464G>C (p.Ala822Pro) single nucleotide variant Retinal dystrophy [RCV001074878] Chr11:77179831 [GRCh38]
Chr11:76890877 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3616G>A (p.Glu1206Lys) single nucleotide variant Usher syndrome type 1B [RCV001832400]|not provided [RCV001040536] Chr11:77189456 [GRCh38]
Chr11:76900501 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3143del (p.Phe1048fs) deletion not provided [RCV001048879] Chr11:77182457 [GRCh38]
Chr11:76893502 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5681C>T (p.Ala1894Val) single nucleotide variant Usher syndrome type 1B [RCV001833793]|not provided [RCV001203972] Chr11:77206141 [GRCh38]
Chr11:76917186 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114890]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114889]|Usher syndrome type 1 [RCV001114891]|Usher syndrome type 1B [RCV001833660]|not provided [RCV001069161] Chr11:77203136 [GRCh38]
Chr11:76914181 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5837_5838del (p.Phe1946fs) deletion not provided [RCV001229859] Chr11:77207382..77207383 [GRCh38]
Chr11:76918427..76918428 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4385C>A (p.Ala1462Asp) single nucleotide variant Retinal dystrophy [RCV001075694] Chr11:77197542 [GRCh38]
Chr11:76908587 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001110699]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110701]|Usher syndrome type 1 [RCV001110700]|Usher syndrome type 1B [RCV001832403]|not provided [RCV001041686] Chr11:77175397 [GRCh38]
Chr11:76886443 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2019del (p.Ile674fs) deletion not provided [RCV001041730] Chr11:77174836 [GRCh38]
Chr11:76885882 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1621C>A (p.Pro541Thr) single nucleotide variant Usher syndrome type 1B [RCV001272495]|not provided [RCV001049816] Chr11:77162919 [GRCh38]
Chr11:76873965 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4613del (p.Cys1538fs) deletion not provided [RCV001050111] Chr11:77199579 [GRCh38]
Chr11:76910624 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001580562]|Usher syndrome type 1B [RCV001273511]|not provided [RCV001050122] Chr11:77204117 [GRCh38]
Chr11:76915162 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.741G>A (p.Leu247=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001111841]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111842]|Usher syndrome type 1 [RCV001111840] Chr11:77157284 [GRCh38]
Chr11:76868330 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg) single nucleotide variant Usher syndrome type 2 [RCV001199711] Chr11:77172803 [GRCh38]
Chr11:76883849 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4852+1G>A single nucleotide variant Usher syndrome type 1 [RCV001199713] Chr11:77199819 [GRCh38]
Chr11:76910864 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112596]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002482207]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112595]|Usher syndrome type 1 [RCV001112594]|Usher syndrome type 1B [RCV001279390]|not provided [RCV001568541] Chr11:77172821 [GRCh38]
Chr11:76883867 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001112599]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112598]|Usher syndrome type 1 [RCV001112597]|not provided [RCV002558125] Chr11:77174762 [GRCh38]
Chr11:76885808 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs) microsatellite Usher syndrome type 1 [RCV001004382] Chr11:77190818..77190819 [GRCh38]
Chr11:76901863..76901864 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) deletion Usher syndrome type 1 [RCV001002685] Chr11:77201591..77201592 [GRCh38]
Chr11:76912636..76912637 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2287A>C (p.Asn763His) single nucleotide variant not provided [RCV001234997] Chr11:77179049 [GRCh38]
Chr11:76890095 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5342T>C (p.Met1781Thr) single nucleotide variant not provided [RCV001051558] Chr11:77204091 [GRCh38]
Chr11:76915136 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter) single nucleotide variant Retinal dystrophy [RCV001075422]|Usher syndrome type 1B [RCV001832511]|not provided [RCV001056879] Chr11:77197511 [GRCh38]
Chr11:76908556 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.999T>A (p.Tyr333Ter) single nucleotide variant not provided [RCV001071737] Chr11:77158426 [GRCh38]
Chr11:76869472 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3844G>C (p.Glu1282Gln) single nucleotide variant Usher syndrome type 1B [RCV001834008]|not provided [RCV001231771] Chr11:77190790 [GRCh38]
Chr11:76901835 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.385G>T (p.Glu129Ter) single nucleotide variant not provided [RCV001035066] Chr11:77156006 [GRCh38]
Chr11:76867052 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2116C>T (p.Gln706Ter) single nucleotide variant not provided [RCV001035569] Chr11:77175393 [GRCh38]
Chr11:76886439 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.99_100del (p.Gly34fs) deletion not provided [RCV001215769] Chr11:77142789..77142790 [GRCh38]
Chr11:76853835..76853836 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114558]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114560]|Usher syndrome type 1 [RCV001114559]|not provided [RCV001499717] Chr11:77198529 [GRCh38]
Chr11:76909574 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4852+798_5673del deletion not provided [RCV001044714] Chr11:77200615..77206132 [GRCh38]
Chr11:76911660..76917177 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.13C>T (p.Gln5Ter) single nucleotide variant not provided [RCV001204835] Chr11:77130647 [GRCh38]
Chr11:76841693 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5589C>T (p.His1863=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114995]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114996]|Usher syndrome type 1 [RCV001114997]|not provided [RCV002069850] Chr11:77205570 [GRCh38]
Chr11:76916615 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002484272]|Usher syndrome type 1B [RCV001828854]|not provided [RCV001232659] Chr11:77213948 [GRCh38]
Chr11:76924993 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1186G>A (p.Asp396Asn) single nucleotide variant Usher syndrome type 1B [RCV001827283]|not provided [RCV001045502] Chr11:77160268 [GRCh38]
Chr11:76871314 [GRCh37]
Chr11:11q13.5
uncertain significance
NC_000011.10:g.(?_77208430)_(77211937_?)del deletion not provided [RCV001032503] Chr11:76919475..76922982 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys) single nucleotide variant Usher syndrome type 1B [RCV001272507]|not provided [RCV001037676] Chr11:77180467 [GRCh38]
Chr11:76891513 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4694C>T (p.Thr1565Met) single nucleotide variant Inborn genetic diseases [RCV002570379]|not provided [RCV001248414] Chr11:77199660 [GRCh38]
Chr11:76910705 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4351G>T (p.Ala1451Ser) single nucleotide variant Usher syndrome type 1B [RCV001834019]|not provided [RCV001232719] Chr11:77197508 [GRCh38]
Chr11:76908553 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val) single nucleotide variant Usher syndrome type 1B [RCV001835339]|not provided [RCV001248504] Chr11:77174799 [GRCh38]
Chr11:76885845 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1354C>T (p.Leu452Phe) single nucleotide variant not provided [RCV001217003] Chr11:77162130 [GRCh38]
Chr11:76873176 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.658C>T (p.His220Tyr) single nucleotide variant Usher syndrome type 1B [RCV001274692]|not provided [RCV001047124] Chr11:77156927 [GRCh38]
Chr11:76867973 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6412G>A (p.Val2138Ile) single nucleotide variant Usher syndrome type 1B [RCV001274810]|not provided [RCV001034761] Chr11:77213009 [GRCh38]
Chr11:76924054 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs) microsatellite Usher syndrome type 1 [RCV001029770] Chr11:77201592..77201593 [GRCh38]
Chr11:76912637..76912638 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT indel Usher syndrome [RCV001195280]|Usher syndrome type 1 [RCV001587218]|not provided [RCV001243097] Chr11:77172741..77172750 [GRCh38]
Chr11:76883787..76883796 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3568C>T (p.Arg1190Trp) single nucleotide variant Usher syndrome type 1B [RCV001827448]|not provided [RCV001068403] Chr11:77189408 [GRCh38]
Chr11:76900453 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4271C>G (p.Pro1424Arg) single nucleotide variant not provided [RCV001247297] Chr11:77194472 [GRCh38]
Chr11:76905517 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.397del (p.His133fs) deletion not provided [RCV001036142] Chr11:77156012 [GRCh38]
Chr11:76867058 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578775]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578776]|Usher syndrome type 1 [RCV001578777]|Usher syndrome type 1B [RCV001833760]|not provided [RCV001876267]|not specified [RCV001195385] Chr11:77179834 [GRCh38]
Chr11:76890880 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr) single nucleotide variant Inborn genetic diseases [RCV002561035]|Usher syndrome type 1B [RCV001279407]|not provided [RCV001419885]|not specified [RCV001195387] Chr11:77180443 [GRCh38]
Chr11:76891489 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1852C>G (p.Leu618Val) single nucleotide variant Usher syndrome type 1B [RCV001828851]|not provided [RCV001232109] Chr11:77172802 [GRCh38]
Chr11:76883848 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4857C>T (p.Gly1619=) single nucleotide variant not provided [RCV001318526]|not specified [RCV001195575] Chr11:77201452 [GRCh38]
Chr11:76912497 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter) single nucleotide variant Retinal dystrophy [RCV001073269] Chr11:77159495 [GRCh38]
Chr11:76870541 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5122C>T (p.Arg1708Cys) single nucleotide variant Inborn genetic diseases [RCV003160234]|Usher syndrome type 1B [RCV001273507]|not provided [RCV001038153] Chr11:77202378 [GRCh38]
Chr11:76913423 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3375+12C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001114282]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114281]|Usher syndrome type 1 [RCV001114280]|not provided [RCV001417990] Chr11:77183169 [GRCh38]
Chr11:76894214 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3688C>T (p.Arg1230Cys) single nucleotide variant Usher syndrome type 1B [RCV001271747]|not provided [RCV001038493] Chr11:77190077 [GRCh38]
Chr11:76901122 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1690+3A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002497784]|Usher syndrome type 1B [RCV001833998]|not provided [RCV001230821] Chr11:77162991 [GRCh38]
Chr11:76874037 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1623del (p.Lys542fs) deletion not provided [RCV001210764] Chr11:77162915 [GRCh38]
Chr11:76873961 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4871T>C (p.Phe1624Ser) single nucleotide variant not provided [RCV001245728] Chr11:77201466 [GRCh38]
Chr11:76912511 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1058C>T (p.Ala353Val) single nucleotide variant Usher syndrome type 1B [RCV001828824]|not provided [RCV001228421] Chr11:77159501 [GRCh38]
Chr11:76870547 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4909_4914del (p.His1637_Asp1638del) deletion not provided [RCV001231234] Chr11:77201501..77201506 [GRCh38]
Chr11:76912546..76912551 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4569-2A>C single nucleotide variant not provided [RCV001210973] Chr11:77199533 [GRCh38]
Chr11:76910578 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3055C>T (p.Arg1019Trp) single nucleotide variant Retinal dystrophy [RCV001075069] Chr11:77182101 [GRCh38]
Chr11:76893147 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs) deletion Usher syndrome type 1 [RCV001004378] Chr11:77160167..77160168 [GRCh38]
Chr11:76871213..76871214 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) single nucleotide variant Nonsyndromic genetic hearing loss [RCV003117740]|Retinal dystrophy [RCV001075168]|Usher syndrome [RCV003387963]|Usher syndrome type 1 [RCV003227909]|not provided [RCV001339495] Chr11:77190808 [GRCh38]
Chr11:76901853 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.1240A>G (p.Ile414Val) single nucleotide variant Retinal dystrophy [RCV001075260] Chr11:77161012 [GRCh38]
Chr11:76872058 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2288_2292delinsCA (p.Asn763_Phe764delinsThr) indel Retinal dystrophy [RCV001075460] Chr11:77179050..77179054 [GRCh38]
Chr11:76890096..76890100 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2302A>T (p.Lys768Ter) single nucleotide variant Retinal dystrophy [RCV001075461] Chr11:77179064 [GRCh38]
Chr11:76890110 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.133-1G>T single nucleotide variant not provided [RCV001215630] Chr11:77147797 [GRCh38]
Chr11:76858843 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3424A>G (p.Met1142Val) single nucleotide variant not provided [RCV001204323] Chr11:77184636 [GRCh38]
Chr11:76895681 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser) single nucleotide variant Usher syndrome type 1B [RCV001272802]|not provided [RCV001034173]|not specified [RCV003117713] Chr11:77201624 [GRCh38]
Chr11:76912669 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2761C>T (p.Arg921Trp) single nucleotide variant Usher syndrome type 1B [RCV001833647]|not provided [RCV001066568] Chr11:77181446 [GRCh38]
Chr11:76892492 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4261G>A (p.Glu1421Lys) single nucleotide variant Usher syndrome type 1B [RCV001829981]|not provided [RCV001246205] Chr11:77194462 [GRCh38]
Chr11:76905507 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2473C>T (p.Arg825Cys) single nucleotide variant not provided [RCV001246084] Chr11:77179840 [GRCh38]
Chr11:76890886 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2684G>A (p.Arg895His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001253661]|not provided [RCV002570536] Chr11:77180471 [GRCh38]
Chr11:76891517 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3503+28G>T single nucleotide variant not specified [RCV001261570] Chr11:77184743 [GRCh38]
Chr11:76895788 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5481-236T>C single nucleotide variant not provided [RCV001580899] Chr11:77205226 [GRCh38]
Chr11:76916271 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV001334334] Chr11:77190748..77190751 [GRCh38]
Chr11:76901793..76901796 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2003G>T (p.Arg668Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001262911] Chr11:77174823 [GRCh38]
Chr11:76885869 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1797+7C>T single nucleotide variant Usher syndrome type 1B [RCV001278616]|not provided [RCV001426180] Chr11:77166169 [GRCh38]
Chr11:76877215 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.285+301T>C single nucleotide variant not provided [RCV001565022] Chr11:77148251 [GRCh38]
Chr11:76859297 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter) single nucleotide variant Usher syndrome type 1 [RCV001263712]|not provided [RCV001880066] Chr11:77142799 [GRCh38]
Chr11:76853845 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter) single nucleotide variant Usher syndrome type 1 [RCV001263713]|not provided [RCV001880067] Chr11:77156706 [GRCh38]
Chr11:76867752 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter) single nucleotide variant Usher syndrome type 1 [RCV001263714] Chr11:77156981 [GRCh38]
Chr11:76868027 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter) single nucleotide variant Usher syndrome type 1 [RCV001263715] Chr11:77157321 [GRCh38]
Chr11:76868367 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter) single nucleotide variant Usher syndrome type 1 [RCV001263716] Chr11:77157385 [GRCh38]
Chr11:76868431 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter) single nucleotide variant Usher syndrome type 1 [RCV001263718] Chr11:77158383 [GRCh38]
Chr11:76869429 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter) single nucleotide variant Usher syndrome type 1 [RCV001263735] Chr11:77194354 [GRCh38]
Chr11:76905399 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter) single nucleotide variant Usher syndrome type 1 [RCV001263736] Chr11:77194420 [GRCh38]
Chr11:76905465 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter) single nucleotide variant Usher syndrome type 1 [RCV001263737] Chr11:77194522 [GRCh38]
Chr11:76905567 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter) single nucleotide variant Usher syndrome type 1 [RCV001263738] Chr11:77197580 [GRCh38]
Chr11:76908625 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter) single nucleotide variant Usher syndrome type 1 [RCV001263739] Chr11:77197589 [GRCh38]
Chr11:76908634 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter) single nucleotide variant Usher syndrome type 1 [RCV001263740] Chr11:77198560 [GRCh38]
Chr11:76909605 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter) single nucleotide variant Usher syndrome type 1 [RCV001263741] Chr11:77199728 [GRCh38]
Chr11:76910773 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter) single nucleotide variant Usher syndrome type 1 [RCV001263742] Chr11:77203100 [GRCh38]
Chr11:76914145 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter) single nucleotide variant Usher syndrome type 1 [RCV001263799] Chr11:77162127 [GRCh38]
Chr11:76873173 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter) single nucleotide variant Usher syndrome type 1 [RCV001263800] Chr11:77162199 [GRCh38]
Chr11:76873245 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter) single nucleotide variant Usher syndrome type 1 [RCV001263801] Chr11:77172793 [GRCh38]
Chr11:76883839 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter) single nucleotide variant Usher syndrome type 1 [RCV001263802]|not provided [RCV001880069] Chr11:77172835 [GRCh38]
Chr11:76883881 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter) single nucleotide variant Usher syndrome type 1 [RCV001263803] Chr11:77172855 [GRCh38]
Chr11:76883901 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter) single nucleotide variant Usher syndrome type 1 [RCV001263804] Chr11:77174794 [GRCh38]
Chr11:76885840 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter) single nucleotide variant Usher syndrome type 1 [RCV001263805]|not provided [RCV002541613] Chr11:77175434 [GRCh38]
Chr11:76886480 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter) single nucleotide variant Usher syndrome type 1 [RCV001263806] Chr11:77179759 [GRCh38]
Chr11:76890805 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5442T>A (p.Tyr1814Ter) single nucleotide variant Usher syndrome type 1 [RCV001263821] Chr11:77204191 [GRCh38]
Chr11:76915236 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter) single nucleotide variant Usher syndrome type 1 [RCV001263822] Chr11:77205469 [GRCh38]
Chr11:76916514 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter) single nucleotide variant Usher syndrome type 1 [RCV001263824] Chr11:77206115 [GRCh38]
Chr11:76917160 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter) single nucleotide variant Usher syndrome type 1 [RCV001263825] Chr11:77206161 [GRCh38]
Chr11:76917206 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter) single nucleotide variant Usher syndrome type 1 [RCV001263826] Chr11:77207388 [GRCh38]
Chr11:76918433 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter) single nucleotide variant Usher syndrome type 1 [RCV001263828] Chr11:77208765 [GRCh38]
Chr11:76919810 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter) single nucleotide variant Usher syndrome type 1 [RCV001263823] Chr11:77205591 [GRCh38]
Chr11:76916636 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter) single nucleotide variant Usher syndrome type 1 [RCV001264304] Chr11:77181467 [GRCh38]
Chr11:76892513 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter) single nucleotide variant Usher syndrome type 1 [RCV001263994]|not provided [RCV002537664] Chr11:77211206 [GRCh38]
Chr11:76922251 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter) single nucleotide variant Usher syndrome type 1 [RCV001263995]|not provided [RCV001387385] Chr11:77211284 [GRCh38]
Chr11:76922329 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter) single nucleotide variant Usher syndrome type 1 [RCV001263996] Chr11:77211331 [GRCh38]
Chr11:76922376 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter) single nucleotide variant Usher syndrome type 1 [RCV001263998] Chr11:77211835 [GRCh38]
Chr11:76922880 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter) single nucleotide variant Usher syndrome type 1 [RCV001263717] Chr11:77158285 [GRCh38]
Chr11:76869331 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter) single nucleotide variant Usher syndrome type 1 [RCV001263827]|not provided [RCV001880070] Chr11:77208719 [GRCh38]
Chr11:76919764 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter) single nucleotide variant Usher syndrome type 1 [RCV001263997] Chr11:77211835 [GRCh38]
Chr11:76922880 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter) single nucleotide variant Usher syndrome type 1 [RCV001264284] Chr11:77142722 [GRCh38]
Chr11:76853768 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter) single nucleotide variant Usher syndrome type 1 [RCV001264285] Chr11:77142723 [GRCh38]
Chr11:76853769 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter) single nucleotide variant Usher syndrome type 1 [RCV001264286] Chr11:77142793 [GRCh38]
Chr11:76853839 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter) single nucleotide variant Usher syndrome type 1 [RCV001264302] Chr11:77179822 [GRCh38]
Chr11:76890868 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter) single nucleotide variant Usher syndrome type 1 [RCV001264303] Chr11:77179839 [GRCh38]
Chr11:76890885 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter) single nucleotide variant Usher syndrome type 1 [RCV001264305] Chr11:77181504 [GRCh38]
Chr11:76892550 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter) single nucleotide variant Usher syndrome type 1 [RCV001264306] Chr11:77182130 [GRCh38]
Chr11:76893176 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter) single nucleotide variant Usher syndrome type 1 [RCV001264307] Chr11:77182586 [GRCh38]
Chr11:76893631 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter) single nucleotide variant Usher syndrome type 1 [RCV001264308] Chr11:77192108 [GRCh38]
Chr11:76903153 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4126A>T (p.Lys1376Ter) single nucleotide variant Usher syndrome type 1 [RCV001264309] Chr11:77192252 [GRCh38]
Chr11:76903297 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3503+32T>G single nucleotide variant not specified [RCV001261571] Chr11:77184747 [GRCh38]
Chr11:76895792 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.202_285+34del deletion not provided [RCV001268708] Chr11:77147867..77147984 [GRCh38]
Chr11:76858913..76859030 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATGCGCGCTCTGGCCTCTGACATG insertion Usher syndrome type 1B [RCV001832790]|not provided [RCV001575501] Chr11:77182389..77182390 [GRCh38]
Chr11:76893434..76893435 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.6381G>A (p.Glu2127=) single nucleotide variant Usher syndrome type 1B [RCV001277339] Chr11:77212978 [GRCh38]
Chr11:76924023 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.690G>A (p.Ala230=) single nucleotide variant not provided [RCV001402040] Chr11:77156959 [GRCh38]
Chr11:76868005 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5856+275C>T single nucleotide variant not provided [RCV001549478] Chr11:77207677 [GRCh38]
Chr11:76918722 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His) single nucleotide variant Usher syndrome type 1B [RCV001279404]|not provided [RCV002537847] Chr11:77179835 [GRCh38]
Chr11:76890881 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2649G>A (p.Glu883=) single nucleotide variant Usher syndrome type 1B [RCV001279406] Chr11:77180436 [GRCh38]
Chr11:76891482 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3503+10_3503+32delinsA indel not provided [RCV001288313] Chr11:77184725..77184747 [GRCh38]
Chr11:76895770..76895792 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6406T>C (p.Tyr2136His) single nucleotide variant not provided [RCV001304793] Chr11:77213003 [GRCh38]
Chr11:76924048 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser) single nucleotide variant Usher syndrome type 1B [RCV001830321]|not provided [RCV001318788] Chr11:77192256 [GRCh38]
Chr11:76903301 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2553C>G (p.Ile851Met) single nucleotide variant Usher syndrome type 1B [RCV001836279]|not provided [RCV001308134] Chr11:77179920 [GRCh38]
Chr11:76890966 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5730T>A (p.Asp1910Glu) single nucleotide variant not provided [RCV001341869] Chr11:77206190 [GRCh38]
Chr11:76917235 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3779T>C (p.Leu1260Ser) single nucleotide variant not provided [RCV001307030] Chr11:77190725 [GRCh38]
Chr11:76901770 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4379G>C (p.Ser1460Thr) single nucleotide variant Usher syndrome type 1B [RCV001825972]|not provided [RCV001351378] Chr11:77197536 [GRCh38]
Chr11:76908581 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001329737]|not provided [RCV002546349] Chr11:77172797 [GRCh38]
Chr11:76883843 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.655A>G (p.Ile219Val) single nucleotide variant not provided [RCV001350970] Chr11:77156924 [GRCh38]
Chr11:76867970 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2427G>C (p.Gln809His) single nucleotide variant not provided [RCV001305924] Chr11:77179794 [GRCh38]
Chr11:76890840 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) single nucleotide variant MYO7A-related condition [RCV003416212]|Usher syndrome type 1 [RCV003155394]|Usher syndrome type 1B [RCV001831011]|not provided [RCV001325860] Chr11:77189349 [GRCh38]
Chr11:76900394 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.2365C>T (p.Leu789=) single nucleotide variant not provided [RCV001327647] Chr11:77179127 [GRCh38]
Chr11:76890173 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4522C>G (p.Leu1508Val) single nucleotide variant not provided [RCV001351165] Chr11:77198575 [GRCh38]
Chr11:76909620 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5138C>T (p.Thr1713Met) single nucleotide variant Inborn genetic diseases [RCV002543676]|Usher syndrome type 1B [RCV001835562]|not provided [RCV001315665] Chr11:77202394 [GRCh38]
Chr11:76913439 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1723G>A (p.Gly575Arg) single nucleotide variant Usher syndrome type 1B [RCV001830416]|not provided [RCV001339937] Chr11:77166088 [GRCh38]
Chr11:76877134 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6516G>T (p.Gly2172=) single nucleotide variant not provided [RCV001349698] Chr11:77213937 [GRCh38]
Chr11:76924982 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3899C>G (p.Ser1300Cys) single nucleotide variant not provided [RCV001321513] Chr11:77190845 [GRCh38]
Chr11:76901890 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4243A>G (p.Thr1415Ala) single nucleotide variant Usher syndrome type 1B [RCV001830363]|not provided [RCV001324854] Chr11:77194444 [GRCh38]
Chr11:76905489 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6044A>G (p.Tyr2015Cys) single nucleotide variant Usher syndrome type 1 [RCV001807977] Chr11:77208796 [GRCh38]
Chr11:76919841 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6355C>A (p.Gln2119Lys) single nucleotide variant Childhood onset hearing loss [RCV001328029] Chr11:77212952 [GRCh38]
Chr11:76923997 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.857G>A (p.Cys286Tyr) single nucleotide variant not provided [RCV001340565] Chr11:77158284 [GRCh38]
Chr11:76869330 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6091C>T (p.Arg2031Trp) single nucleotide variant Usher syndrome type 1B [RCV001825897]|not provided [RCV001343868] Chr11:77211191 [GRCh38]
Chr11:76922236 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2755G>T (p.Ala919Ser) single nucleotide variant not provided [RCV001300775] Chr11:77181440 [GRCh38]
Chr11:76892486 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.166A>T (p.Ile56Phe) single nucleotide variant not provided [RCV001326447] Chr11:77147831 [GRCh38]
Chr11:76858877 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1798-4C>A single nucleotide variant not provided [RCV001392347] Chr11:77172744 [GRCh38]
Chr11:76883790 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6051+7A>C single nucleotide variant not provided [RCV001422739] Chr11:77208810 [GRCh38]
Chr11:76919855 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1155A>G (p.Pro385=) single nucleotide variant not provided [RCV001397343] Chr11:77160237 [GRCh38]
Chr11:76871283 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2670G>A (p.Lys890=) single nucleotide variant not provided [RCV001392807] Chr11:77180457 [GRCh38]
Chr11:76891503 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4491T>A (p.Gly1497=) single nucleotide variant not provided [RCV001397669] Chr11:77198544 [GRCh38]
Chr11:76909589 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001580591]|Usher syndrome type 1 [RCV001580592]|not provided [RCV001315824] Chr11:77160247 [GRCh38]
Chr11:76871293 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2746A>G (p.Lys916Glu) single nucleotide variant Usher syndrome type 1B [RCV001831218]|not provided [RCV001361358] Chr11:77181431 [GRCh38]
Chr11:76892477 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5623C>T (p.Gln1875Ter) single nucleotide variant not provided [RCV001382378] Chr11:77205604 [GRCh38]
Chr11:76916649 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3732C>T (p.Pro1244=) single nucleotide variant not provided [RCV001392539] Chr11:77190121 [GRCh38]
Chr11:76901166 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6468G>A (p.Lys2156=) single nucleotide variant not provided [RCV001394715] Chr11:77213889 [GRCh38]
Chr11:76924934 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3992A>G (p.Lys1331Arg) single nucleotide variant Hearing impairment [RCV001375196] Chr11:77192118 [GRCh38]
Chr11:76903163 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3151G>C (p.Asp1051His) single nucleotide variant not provided [RCV001372653] Chr11:77182466 [GRCh38]
Chr11:76893511 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2149G>A (p.Asp717Asn) single nucleotide variant not provided [RCV001412764] Chr11:77175426 [GRCh38]
Chr11:76886472 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.2247C>T (p.Ile749=) single nucleotide variant not provided [RCV001422587] Chr11:77177608 [GRCh38]
Chr11:76888654 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3956T>C (p.Val1319Ala) single nucleotide variant Usher syndrome type 1B [RCV001831221]|not provided [RCV001361765] Chr11:77192082 [GRCh38]
Chr11:76903127 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3381C>T (p.Thr1127=) single nucleotide variant not provided [RCV001412815] Chr11:77184593 [GRCh38]
Chr11:76895638 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.372C>T (p.Asn124=) single nucleotide variant not provided [RCV001391972] Chr11:77155993 [GRCh38]
Chr11:76867039 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6117G>A (p.Ala2039=) single nucleotide variant not provided [RCV001422129] Chr11:77211217 [GRCh38]
Chr11:76922262 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5823G>A (p.Glu1941=) single nucleotide variant not provided [RCV001396932] Chr11:77207369 [GRCh38]
Chr11:76918414 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001329738]|not provided [RCV003132422] Chr11:77174903 [GRCh38]
Chr11:76885949 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001329742]|not provided [RCV002462937] Chr11:77202379 [GRCh38]
Chr11:76913424 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6319T>C (p.Trp2107Arg) single nucleotide variant not provided [RCV001369538] Chr11:77211902 [GRCh38]
Chr11:76922947 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6048C>T (p.Tyr2016=) single nucleotide variant Usher syndrome type 1B [RCV001277334]|not provided [RCV002537745] Chr11:77208800 [GRCh38]
Chr11:76919845 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6352A>G (p.Lys2118Glu) single nucleotide variant Usher syndrome type 1B [RCV001277338] Chr11:77211935 [GRCh38]
Chr11:76922980 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6431A>G (p.Lys2144Arg) single nucleotide variant Usher syndrome type 1B [RCV001277341] Chr11:77213028 [GRCh38]
Chr11:76924073 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2460C>T (p.Phe820=) single nucleotide variant not provided [RCV001396802] Chr11:77179827 [GRCh38]
Chr11:76890873 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.968C>G (p.Ala323Gly) single nucleotide variant Usher syndrome type 1B [RCV001278609] Chr11:77158395 [GRCh38]
Chr11:76869441 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1635T>C (p.His545=) single nucleotide variant Usher syndrome type 1B [RCV001278614]|not provided [RCV001437223] Chr11:77162933 [GRCh38]
Chr11:76873979 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.152A>C (p.Gln51Pro) single nucleotide variant Hearing impairment [RCV001375135] Chr11:77147817 [GRCh38]
Chr11:76858863 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1792G>A (p.Ala598Thr) single nucleotide variant Hearing impairment [RCV001375267]|Inborn genetic diseases [RCV002550212]|not provided [RCV002550213] Chr11:77166157 [GRCh38]
Chr11:76877203 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.1021C>G (p.Leu341Val) single nucleotide variant Hearing impairment [RCV001375394] Chr11:77159464 [GRCh38]
Chr11:76870510 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5088G>A (p.Arg1696=) single nucleotide variant not provided [RCV001415005] Chr11:77202344 [GRCh38]
Chr11:76913389 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2420A>C (p.His807Pro) single nucleotide variant Inborn genetic diseases [RCV002537845]|Usher syndrome type 1B [RCV001279402]|not provided [RCV002537846] Chr11:77179787 [GRCh38]
Chr11:76890833 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu) single nucleotide variant Usher syndrome type 1B [RCV001279408]|not specified [RCV003331097] Chr11:77180449 [GRCh38]
Chr11:76891495 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2703G>A (p.Leu901=) single nucleotide variant Usher syndrome type 1B [RCV001279409]|not provided [RCV001457105] Chr11:77181388 [GRCh38]
Chr11:76892434 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3615C>T (p.Ser1205=) single nucleotide variant Usher syndrome type 1B [RCV001279792]|not provided [RCV001444671] Chr11:77189455 [GRCh38]
Chr11:76900500 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln) single nucleotide variant Inborn genetic diseases [RCV002542934]|Usher syndrome type 1B [RCV001279809]|not provided [RCV001303071] Chr11:77202343 [GRCh38]
Chr11:76913388 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2586+9G>A single nucleotide variant not provided [RCV001423027] Chr11:77179962 [GRCh38]
Chr11:76891008 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6348_6352dup (p.Lys2118delinsArgTer) duplication not provided [RCV001383130] Chr11:77211928..77211929 [GRCh38]
Chr11:76922973..76922974 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3504-9C>T single nucleotide variant not provided [RCV001422778] Chr11:77189335 [GRCh38]
Chr11:76900380 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5786A>G (p.Gln1929Arg) single nucleotide variant Hearing impairment [RCV001375361] Chr11:77207332 [GRCh38]
Chr11:76918377 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002493910]|Hearing impairment [RCV001375392] Chr11:77192084 [GRCh38]
Chr11:76903129 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1144G>T (p.Val382Leu) single nucleotide variant Hearing impairment [RCV001375395] Chr11:77160226 [GRCh38]
Chr11:76871272 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1326G>A (p.Glu442=) single nucleotide variant not provided [RCV001433898] Chr11:77161098 [GRCh38]
Chr11:76872144 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2823C>T (p.Asp941=) single nucleotide variant not provided [RCV001391899] Chr11:77181508 [GRCh38]
Chr11:76892554 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.294G>A (p.Thr98=) single nucleotide variant not provided [RCV001413782] Chr11:77155915 [GRCh38]
Chr11:76866961 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001334340]|Usher syndrome type 1B [RCV001831038]|not provided [RCV001373989] Chr11:77213018 [GRCh38]
Chr11:76924063 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.659A>G (p.His220Arg) single nucleotide variant not provided [RCV001356190] Chr11:77156928 [GRCh38]
Chr11:76867974 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2480A>G (p.Tyr827Cys) single nucleotide variant Usher syndrome type 1B [RCV001835465]|not provided [RCV001303844] Chr11:77179847 [GRCh38]
Chr11:76890893 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002499727]|Usher syndrome type 1B [RCV001825999]|not provided [RCV001360225] Chr11:77179798 [GRCh38]
Chr11:76890844 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4075G>A (p.Glu1359Lys) single nucleotide variant Usher syndrome type 1B [RCV001831200]|not provided [RCV001360329] Chr11:77192201 [GRCh38]
Chr11:76903246 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3829G>A (p.Ala1277Thr) single nucleotide variant Usher syndrome type 1B [RCV001831325]|not provided [RCV001373414] Chr11:77190775 [GRCh38]
Chr11:76901820 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1941C>T (p.Phe647=) single nucleotide variant not provided [RCV001433299] Chr11:77174761 [GRCh38]
Chr11:76885807 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.354C>T (p.His118=) single nucleotide variant not provided [RCV001414633] Chr11:77155975 [GRCh38]
Chr11:76867021 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.849G>A (p.Met283Ile) single nucleotide variant not provided [RCV001360433] Chr11:77157392 [GRCh38]
Chr11:76868438 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5300C>A (p.Ser1767Ter) single nucleotide variant not provided [RCV001382582] Chr11:77203191 [GRCh38]
Chr11:76914236 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2905-163_2905-162insG insertion not provided [RCV001538462] Chr11:77181788..77181789 [GRCh38]
Chr11:76892834..76892835 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1128C>T (p.Ile376=) single nucleotide variant not provided [RCV001414655] Chr11:77160210 [GRCh38]
Chr11:76871256 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5007C>T (p.Val1669=) single nucleotide variant not provided [RCV001396880] Chr11:77201602 [GRCh38]
Chr11:76912647 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1069T>C (p.Ser357Pro) single nucleotide variant Usher syndrome type 1B [RCV001836348]|not provided [RCV001349449] Chr11:77159512 [GRCh38]
Chr11:76870558 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.358C>T (p.Arg120Cys) single nucleotide variant Usher syndrome type 1B [RCV001825960]|not provided [RCV001350134] Chr11:77155979 [GRCh38]
Chr11:76867025 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1343+297G>T single nucleotide variant not provided [RCV001581349] Chr11:77161412 [GRCh38]
Chr11:76872458 [GRCh37]
Chr11:11q13.5
likely benign
NC_000011.10:g.77158278del deletion not provided [RCV001382611] Chr11:77158276 [GRCh38]
Chr11:76869322 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2628G>A (p.Glu876=) single nucleotide variant not provided [RCV001415406] Chr11:77180415 [GRCh38]
Chr11:76891461 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2641C>T (p.Arg881Trp) single nucleotide variant Usher syndrome type 1B [RCV001826101]|not provided [RCV001372004] Chr11:77180428 [GRCh38]
Chr11:76891474 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1612T>C (p.Tyr538His) single nucleotide variant Usher syndrome type 1B [RCV001831279]|not provided [RCV001367943] Chr11:77162910 [GRCh38]
Chr11:76873956 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5586G>T (p.Lys1862Asn) single nucleotide variant not provided [RCV001345743] Chr11:77205567 [GRCh38]
Chr11:76916612 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3226G>A (p.Glu1076Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001329740] Chr11:77182541 [GRCh38]
Chr11:76893586 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5809C>T (p.Leu1937Phe) single nucleotide variant Usher syndrome type 1B [RCV001831100]|not provided [RCV001343666] Chr11:77207355 [GRCh38]
Chr11:76918400 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3193A>G (p.Ser1065Gly) single nucleotide variant Usher syndrome type 1B [RCV001835618]|not provided [RCV001321780] Chr11:77182508 [GRCh38]
Chr11:76893553 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2970C>T (p.Asp990=) single nucleotide variant not provided [RCV001417554] Chr11:77182016 [GRCh38]
Chr11:76893062 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5327-10C>T single nucleotide variant not provided [RCV001289030] Chr11:77204066 [GRCh38]
Chr11:76915111 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.133-3C>A single nucleotide variant Childhood onset hearing loss [RCV001328028] Chr11:77147795 [GRCh38]
Chr11:76858841 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5182C>T (p.His1728Tyr) single nucleotide variant not provided [RCV001309783] Chr11:77203073 [GRCh38]
Chr11:76914118 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3292C>G (p.Leu1098Val) single nucleotide variant Usher syndrome type 1B [RCV001835593]|not provided [RCV001318831] Chr11:77183074 [GRCh38]
Chr11:76894119 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5365A>T (p.Thr1789Ser) single nucleotide variant not provided [RCV001321999] Chr11:77204114 [GRCh38]
Chr11:76915159 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.19-9C>A single nucleotide variant not provided [RCV001294474] Chr11:77142700 [GRCh38]
Chr11:76853746 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.592+18A>T single nucleotide variant not provided [RCV001307619] Chr11:77156799 [GRCh38]
Chr11:76867845 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2098G>C (p.Asp700His) single nucleotide variant Inborn genetic diseases [RCV003365341]|not provided [RCV001340946] Chr11:77175375 [GRCh38]
Chr11:76886421 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4592T>C (p.Leu1531Pro) single nucleotide variant Usher syndrome type 1B [RCV001830353]|not provided [RCV001323144] Chr11:77199558 [GRCh38]
Chr11:76910603 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.132+6T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002499473]|Usher syndrome type 1B [RCV001278604]|not provided [RCV001880268] Chr11:77142828 [GRCh38]
Chr11:76853874 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1343+6G>A single nucleotide variant Usher syndrome type 1B [RCV001278613]|not provided [RCV002542902] Chr11:77161121 [GRCh38]
Chr11:76872167 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5327-5C>G single nucleotide variant Usher syndrome type 1B [RCV001277325] Chr11:77204071 [GRCh38]
Chr11:76915116 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6145G>A (p.Asp2049Asn) single nucleotide variant Usher syndrome type 1B [RCV001277336]|not provided [RCV001880223] Chr11:77211245 [GRCh38]
Chr11:76922290 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2307C>T (p.Asn769=) single nucleotide variant Usher syndrome type 1B [RCV001279398]|not provided [RCV001407889] Chr11:77179069 [GRCh38]
Chr11:76890115 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2337G>A (p.Arg779=) single nucleotide variant Usher syndrome type 1B [RCV001279399]|not provided [RCV001435541] Chr11:77179099 [GRCh38]
Chr11:76890145 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3260T>G (p.Leu1087Arg) single nucleotide variant Usher syndrome type 1B [RCV001279413] Chr11:77182575 [GRCh38]
Chr11:76893620 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3456G>A (p.Glu1152=) single nucleotide variant Usher syndrome type 1B [RCV001279788]|not provided [RCV001476099] Chr11:77184668 [GRCh38]
Chr11:76895713 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3891C>A (p.Phe1297Leu) single nucleotide variant Usher syndrome type 1B [RCV001279796] Chr11:77190837 [GRCh38]
Chr11:76901882 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3964G>A (p.Ala1322Thr) single nucleotide variant Usher syndrome type 1B [RCV001279797]|not provided [RCV002537863] Chr11:77192090 [GRCh38]
Chr11:76903135 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4593G>T (p.Leu1531=) single nucleotide variant Usher syndrome type 1B [RCV001279801] Chr11:77199559 [GRCh38]
Chr11:76910604 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1092A>T (p.Pro364=) single nucleotide variant Usher syndrome type 1B [RCV001278610] Chr11:77160174 [GRCh38]
Chr11:76871220 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.492G>C (p.Lys164Asn) single nucleotide variant not provided [RCV001324871] Chr11:77156681 [GRCh38]
Chr11:76867727 [GRCh37]
Chr11:11q13.5
pathogenic|uncertain significance
NM_000260.4(MYO7A):c.2057G>C (p.Arg686Pro) single nucleotide variant Usher syndrome type 1B [RCV001279394] Chr11:77174877 [GRCh38]
Chr11:76885923 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2806C>T (p.Pro936Ser) single nucleotide variant Usher syndrome type 1B [RCV001279410]|not provided [RCV001423888] Chr11:77181491 [GRCh38]
Chr11:76892537 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3503+8C>A single nucleotide variant Usher syndrome type 1B [RCV001279789] Chr11:77184723 [GRCh38]
Chr11:76895768 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3631-6C>A single nucleotide variant Usher syndrome type 1B [RCV001279793] Chr11:77190014 [GRCh38]
Chr11:76901059 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4032C>T (p.Leu1344=) single nucleotide variant Usher syndrome type 1B [RCV001279798]|not provided [RCV001438660] Chr11:77192158 [GRCh38]
Chr11:76903203 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4035C>G (p.Phe1345Leu) single nucleotide variant Usher syndrome type 1B [RCV001279799] Chr11:77192161 [GRCh38]
Chr11:76903206 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4868G>A (p.Gly1623Asp) single nucleotide variant Usher syndrome type 1B [RCV001279805] Chr11:77201463 [GRCh38]
Chr11:76912508 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5098C>T (p.Leu1700=) single nucleotide variant Usher syndrome type 1B [RCV001279810] Chr11:77202354 [GRCh38]
Chr11:76913399 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3752CCA[1] (p.Thr1252del) microsatellite not provided [RCV001307067] Chr11:77190698..77190700 [GRCh38]
Chr11:76901743..76901745 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1610A>G (p.Asn537Ser) single nucleotide variant not provided [RCV001298519] Chr11:77162908 [GRCh38]
Chr11:76873954 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5327-5C>T single nucleotide variant not provided [RCV001320900] Chr11:77204071 [GRCh38]
Chr11:76915116 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3229A>T (p.Thr1077Ser) single nucleotide variant Usher syndrome type 1B [RCV001830364]|not provided [RCV001324901] Chr11:77182544 [GRCh38]
Chr11:76893589 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4327A>C (p.Ile1443Leu) single nucleotide variant Usher syndrome type 1B [RCV001830241]|not provided [RCV001308130] Chr11:77197484 [GRCh38]
Chr11:76908529 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6128G>C (p.Arg2043Thr) single nucleotide variant not provided [RCV001319405] Chr11:77211228 [GRCh38]
Chr11:76922273 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1796T>C (p.Met599Thr) single nucleotide variant Usher syndrome type 1B [RCV001830419]|not provided [RCV001340238] Chr11:77166161 [GRCh38]
Chr11:76877207 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4019C>T (p.Ala1340Val) single nucleotide variant Usher syndrome type 1B [RCV001826067]|not provided [RCV001368024] Chr11:77192145 [GRCh38]
Chr11:76903190 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2904+5C>T single nucleotide variant not provided [RCV001364373] Chr11:77181594 [GRCh38]
Chr11:76892640 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3285+3G>A single nucleotide variant Usher syndrome type 1B [RCV001830354]|not provided [RCV001323752] Chr11:77182603 [GRCh38]
Chr11:76893648 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1004C>T (p.Ala335Val) single nucleotide variant Usher syndrome type 1B [RCV001831252]|not provided [RCV001364514] Chr11:77159447 [GRCh38]
Chr11:76870493 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3631-18C>T single nucleotide variant not provided [RCV001314428] Chr11:77190002 [GRCh38]
Chr11:76901047 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4749C>T (p.Thr1583=) single nucleotide variant not provided [RCV001395590] Chr11:77199715 [GRCh38]
Chr11:76910760 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.337A>G (p.Ile113Val) single nucleotide variant not provided [RCV001294646] Chr11:77155958 [GRCh38]
Chr11:76867004 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5006T>C (p.Val1669Ala) single nucleotide variant Usher syndrome type 1B [RCV001831000]|not provided [RCV001325220] Chr11:77201601 [GRCh38]
Chr11:76912646 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.6280G>C (p.Glu2094Gln) single nucleotide variant Usher syndrome type 1B [RCV001830293]|not provided [RCV001315434] Chr11:77211863 [GRCh38]
Chr11:76922908 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2819C>T (p.Ser940Leu) single nucleotide variant Usher syndrome type 1B [RCV001830284]|not provided [RCV001314551] Chr11:77181504 [GRCh38]
Chr11:76892550 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.639C>G (p.Phe213Leu) single nucleotide variant Usher syndrome type 1B [RCV001830309]|not provided [RCV001318028] Chr11:77156908 [GRCh38]
Chr11:76867954 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1476C>T (p.Asn492=) single nucleotide variant not provided [RCV001413679] Chr11:77162252 [GRCh38]
Chr11:76873298 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3924+11_3924+12insTGGAAGCACCTCCTCC insertion not provided [RCV001421602] Chr11:77190879..77190880 [GRCh38]
Chr11:76901924..76901925 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4852+6T>C single nucleotide variant not provided [RCV001350441] Chr11:77199824 [GRCh38]
Chr11:76910869 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.285+18C>G single nucleotide variant not provided [RCV001395422] Chr11:77147968 [GRCh38]
Chr11:76859014 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3503+10G>A single nucleotide variant not provided [RCV001288314] Chr11:77184725 [GRCh38]
Chr11:76895770 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.4749C>G (p.Thr1583=) single nucleotide variant not provided [RCV001413786] Chr11:77199715 [GRCh38]
Chr11:76910760 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.586C>T (p.Leu196=) single nucleotide variant not provided [RCV001396091] Chr11:77156775 [GRCh38]
Chr11:76867821 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6052-17T>G single nucleotide variant not provided [RCV001396096] Chr11:77211135 [GRCh38]
Chr11:76922180 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002275351]|Usher syndrome type 1B [RCV001830313]|not provided [RCV001318376] Chr11:77202342 [GRCh38]
Chr11:76913387 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5471A>G (p.Asn1824Ser) single nucleotide variant not provided [RCV001366823] Chr11:77204220 [GRCh38]
Chr11:76915265 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4715T>C (p.Leu1572Pro) single nucleotide variant not provided [RCV001269854] Chr11:77199681 [GRCh38]
Chr11:76910726 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His) single nucleotide variant Inborn genetic diseases [RCV002537744]|Usher syndrome type 1B [RCV001277324]|not provided [RCV001880222] Chr11:77203086 [GRCh38]
Chr11:76914131 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.6154T>G (p.Tyr2052Asp) single nucleotide variant Usher syndrome type 1B [RCV001277337] Chr11:77211254 [GRCh38]
Chr11:76922299 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6384CCT[1] (p.Leu2130del) microsatellite Usher syndrome type 1B [RCV001277340] Chr11:77212980..77212982 [GRCh38]
Chr11:76924025..76924027 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5146G>A (p.Glu1716Lys) single nucleotide variant Usher syndrome type 1B [RCV001277323] Chr11:77202402 [GRCh38]
Chr11:76913447 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5826A>G (p.Gly1942=) single nucleotide variant Usher syndrome type 1B [RCV001277329]|not provided [RCV002542865] Chr11:77207372 [GRCh38]
Chr11:76918417 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5879A>T (p.Asp1960Val) single nucleotide variant Usher syndrome type 1B [RCV001277331] Chr11:77208452 [GRCh38]
Chr11:76919497 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6089C>T (p.Thr2030Met) single nucleotide variant Usher syndrome type 1B [RCV001277335]|not provided [RCV002537746] Chr11:77211189 [GRCh38]
Chr11:76922234 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3630+8G>T single nucleotide variant not provided [RCV001395033] Chr11:77189478 [GRCh38]
Chr11:76900523 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6528C>T (p.Arg2176=) single nucleotide variant not provided [RCV001414161] Chr11:77213949 [GRCh38]
Chr11:76924994 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5442T>G (p.Tyr1814Ter) single nucleotide variant Sensorineural hearing loss disorder [RCV001353208] Chr11:77204191 [GRCh38]
Chr11:76915236 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.156C>T (p.Asn52=) single nucleotide variant Usher syndrome type 1B [RCV001278605] Chr11:77147821 [GRCh38]
Chr11:76858867 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1741G>T (p.Val581Phe) single nucleotide variant Usher syndrome type 1B [RCV001278615] Chr11:77166106 [GRCh38]
Chr11:76877152 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3962A>G (p.Asp1321Gly) single nucleotide variant not provided [RCV001309692] Chr11:77192088 [GRCh38]
Chr11:76903133 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6003G>A (p.Thr2001=) single nucleotide variant Usher syndrome type 1B [RCV001830257]|not provided [RCV001309749] Chr11:77208755 [GRCh38]
Chr11:76919800 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1191C>T (p.Ala397=) single nucleotide variant Usher syndrome type 1B [RCV001278612]|not provided [RCV001456207] Chr11:77160273 [GRCh38]
Chr11:76871319 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_000260.4(MYO7A):c.1957G>A (p.Val653Met) single nucleotide variant Usher syndrome type 1B [RCV001279391] Chr11:77174777 [GRCh38]
Chr11:76885823 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2001C>T (p.Ile667=) single nucleotide variant Usher syndrome type 1B [RCV001279392] Chr11:77174821 [GRCh38]
Chr11:76885867 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2034C>T (p.Phe678=) single nucleotide variant Usher syndrome type 1B [RCV001279393]|not provided [RCV001436775] Chr11:77174854 [GRCh38]
Chr11:76885900 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2452A>G (p.Ile818Val) single nucleotide variant Usher syndrome type 1B [RCV001279403]|not provided [RCV001303604] Chr11:77179819 [GRCh38]
Chr11:76890865 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6237+9G>A single nucleotide variant not provided [RCV001421238] Chr11:77211346 [GRCh38]
Chr11:76922391 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2119C>A (p.Arg707Ser) single nucleotide variant Usher syndrome type 1B [RCV001279396]|not provided [RCV001316008] Chr11:77175396 [GRCh38]
Chr11:76886442 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3449A>G (p.Asn1150Ser) single nucleotide variant Usher syndrome type 1B [RCV001279787]|not provided [RCV002542933] Chr11:77184661 [GRCh38]
Chr11:76895706 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4791C>A (p.Phe1597Leu) single nucleotide variant Usher syndrome type 1B [RCV001279803] Chr11:77199757 [GRCh38]
Chr11:76910802 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2913G>A (p.Glu971=) single nucleotide variant not provided [RCV001421812] Chr11:77181959 [GRCh38]
Chr11:76893005 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1399C>T (p.Arg467Trp) single nucleotide variant Hearing impairment [RCV001375360]|not provided [RCV001871973] Chr11:77162175 [GRCh38]
Chr11:76873221 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3855C>T (p.Asn1285=) single nucleotide variant Usher syndrome type 1B [RCV001279795]|not provided [RCV001417085] Chr11:77190801 [GRCh38]
Chr11:76901846 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002504408]|Usher syndrome type 1B [RCV001279807]|not provided [RCV002537864] Chr11:77201616 [GRCh38]
Chr11:76912661 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5075A>G (p.Gln1692Arg) single nucleotide variant Usher syndrome type 1B [RCV001279808] Chr11:77202331 [GRCh38]
Chr11:76913376 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.293C>T (p.Thr98Met) single nucleotide variant Usher syndrome type 1B [RCV001826040]|not provided [RCV001365377] Chr11:77155914 [GRCh38]
Chr11:76866960 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.652G>C (p.Asp218His) single nucleotide variant not specified [RCV001449828] Chr11:77156921 [GRCh38]
Chr11:76867967 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val) single nucleotide variant Usher syndrome type 1B [RCV001832580]|not provided [RCV002557522]|not specified [RCV001449829] Chr11:77199618 [GRCh38]
Chr11:76910663 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.776T>C (p.Leu259Pro) single nucleotide variant not provided [RCV001306108] Chr11:77157319 [GRCh38]
Chr11:76868365 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5782T>C (p.Cys1928Arg) single nucleotide variant Usher syndrome type 1B [RCV001831208]|not provided [RCV001360957] Chr11:77207328 [GRCh38]
Chr11:76918373 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5346C>T (p.Gly1782=) single nucleotide variant Usher syndrome type 1B [RCV001831209]|not provided [RCV001360959] Chr11:77204095 [GRCh38]
Chr11:76915140 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3504-10G>A single nucleotide variant not provided [RCV001395017] Chr11:77189334 [GRCh38]
Chr11:76900379 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5106G>A (p.Thr1702=) single nucleotide variant not provided [RCV001412772] Chr11:77202362 [GRCh38]
Chr11:76913407 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5874G>A (p.Glu1958=) single nucleotide variant not provided [RCV001413649] Chr11:77208447 [GRCh38]
Chr11:76919492 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6439-10G>C single nucleotide variant not provided [RCV001421579] Chr11:77213850 [GRCh38]
Chr11:76924895 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5168+9T>G single nucleotide variant not provided [RCV001395988] Chr11:77202433 [GRCh38]
Chr11:76913478 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2666C>T (p.Ala889Val) single nucleotide variant Hearing impairment [RCV001375081] Chr11:77180453 [GRCh38]
Chr11:76891499 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1211G>A (p.Gly404Glu) single nucleotide variant Hearing impairment [RCV001375266] Chr11:77160983 [GRCh38]
Chr11:76872029 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.410T>C (p.Ile137Thr) single nucleotide variant not provided [RCV001317024] Chr11:77156031 [GRCh38]
Chr11:76867077 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3420C>T (p.Asn1140=) single nucleotide variant not provided [RCV001395070] Chr11:77184632 [GRCh38]
Chr11:76895677 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3631-7G>A single nucleotide variant not provided [RCV001396294] Chr11:77190013 [GRCh38]
Chr11:76901058 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4570G>C (p.Glu1524Gln) single nucleotide variant not provided [RCV001349792] Chr11:77199536 [GRCh38]
Chr11:76910581 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4153-7C>T single nucleotide variant not provided [RCV001412371] Chr11:77194347 [GRCh38]
Chr11:76905392 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2573G>A (p.Arg858His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001333315]|not provided [RCV002546625] Chr11:77179940 [GRCh38]
Chr11:76890986 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5179A>C (p.Lys1727Gln) single nucleotide variant Usher syndrome type 1B [RCV001830402]|not provided [RCV001338433] Chr11:77203070 [GRCh38]
Chr11:76914115 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.194_217del (p.His65_Arg72del) deletion not provided [RCV001294315] Chr11:77147857..77147880 [GRCh38]
Chr11:76858903..76858926 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.341A>G (p.Tyr114Cys) single nucleotide variant Usher syndrome type 1B [RCV001835421]|not provided [RCV001299065] Chr11:77155962 [GRCh38]
Chr11:76867008 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4676C>T (p.Ser1559Phe) single nucleotide variant Usher syndrome type 1B [RCV001826046]|not provided [RCV001365978] Chr11:77199642 [GRCh38]
Chr11:76910687 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1011A>C (p.Thr337=) single nucleotide variant not provided [RCV001506809] Chr11:77159454 [GRCh38]
Chr11:76870500 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2214G>A (p.Val738=) single nucleotide variant not provided [RCV001472982] Chr11:77177575 [GRCh38]
Chr11:76888621 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2235C>T (p.Thr745=) single nucleotide variant not provided [RCV001494063] Chr11:77177596 [GRCh38]
Chr11:76888642 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter) single nucleotide variant Meniere disease [RCV001526686] Chr11:77199601 [GRCh38]
Chr11:76910646 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2523C>A (p.Leu841=) single nucleotide variant not provided [RCV001498996] Chr11:77179890 [GRCh38]
Chr11:76890936 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2319G>T (p.Leu773=) single nucleotide variant not provided [RCV001424460] Chr11:77179081 [GRCh38]
Chr11:76890127 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4422T>G (p.Tyr1474Ter) single nucleotide variant not provided [RCV001380124] Chr11:77197579 [GRCh38]
Chr11:76908624 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5471_5480+5del deletion not provided [RCV001377536] Chr11:77204220..77204234 [GRCh38]
Chr11:76915265..76915279 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1798-14G>A single nucleotide variant not provided [RCV001398920] Chr11:77172734 [GRCh38]
Chr11:76883780 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4536C>T (p.Ser1512=) single nucleotide variant not provided [RCV001469552] Chr11:77198589 [GRCh38]
Chr11:76909634 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4005C>G (p.Ala1335=) single nucleotide variant not provided [RCV001469605] Chr11:77192131 [GRCh38]
Chr11:76903176 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578769]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578770]|Usher syndrome type 1 [RCV001578771]|not provided [RCV001486886] Chr11:77190022 [GRCh38]
Chr11:76901067 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.876G>C (p.Arg292=) single nucleotide variant not provided [RCV001465024] Chr11:77158303 [GRCh38]
Chr11:76869349 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6243C>T (p.Ile2081=) single nucleotide variant not provided [RCV001450422] Chr11:77211826 [GRCh38]
Chr11:76922871 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2368-10G>A single nucleotide variant not provided [RCV001427723] Chr11:77179725 [GRCh38]
Chr11:76890771 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2175G>A (p.Lys725=) single nucleotide variant not provided [RCV001424532] Chr11:77175452 [GRCh38]
Chr11:76886498 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3675G>T (p.Pro1225=) single nucleotide variant not provided [RCV001398993] Chr11:77190064 [GRCh38]
Chr11:76901109 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001578725]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578726]|Usher syndrome type 1 [RCV001578727]|not provided [RCV001435516] Chr11:77199700 [GRCh38]
Chr11:76910745 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.5403G>A (p.Glu1801=) single nucleotide variant not provided [RCV001457077] Chr11:77204152 [GRCh38]
Chr11:76915197 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3660G>T (p.Pro1220=) single nucleotide variant not provided [RCV001466727] Chr11:77190049 [GRCh38]
Chr11:76901094 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.133-17G>A single nucleotide variant not provided [RCV001519966] Chr11:77147781 [GRCh38]
Chr11:76858827 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.810G>T (p.Leu270=) single nucleotide variant not provided [RCV001458003] Chr11:77157353 [GRCh38]
Chr11:76868399 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4852+15G>A single nucleotide variant not provided [RCV001465240] Chr11:77199833 [GRCh38]
Chr11:76910878 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6633C>G (p.Ser2211=) single nucleotide variant not provided [RCV001399443] Chr11:77214681 [GRCh38]
Chr11:76925726 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1416G>T (p.Leu472=) single nucleotide variant not provided [RCV001402204] Chr11:77162192 [GRCh38]
Chr11:76873238 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.132+7A>C single nucleotide variant not provided [RCV001490712] Chr11:77142829 [GRCh38]
Chr11:76853875 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4359G>A (p.Lys1453=) single nucleotide variant not provided [RCV001475194] Chr11:77197516 [GRCh38]
Chr11:76908561 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1691-10C>G single nucleotide variant not provided [RCV001492408] Chr11:77166046 [GRCh38]
Chr11:76877092 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1953G>A (p.Leu651=) single nucleotide variant not provided [RCV001499605] Chr11:77174773 [GRCh38]
Chr11:76885819 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4971G>A (p.Lys1657=) single nucleotide variant not provided [RCV001425089] Chr11:77201566 [GRCh38]
Chr11:76912611 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.833_841del (p.Tyr278_Tyr280del) deletion not provided [RCV001380475] Chr11:77157373..77157381 [GRCh38]
Chr11:76868419..76868427 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3375+10G>A single nucleotide variant not provided [RCV001428090] Chr11:77183167 [GRCh38]
Chr11:76894212 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3951C>T (p.Asp1317=) single nucleotide variant not provided [RCV001473540] Chr11:77192077 [GRCh38]
Chr11:76903122 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3885C>T (p.Asp1295=) single nucleotide variant not provided [RCV001490792] Chr11:77190831 [GRCh38]
Chr11:76901876 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6435G>A (p.Thr2145=) single nucleotide variant not provided [RCV001499929] Chr11:77213032 [GRCh38]
Chr11:76924077 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5031G>A (p.Pro1677=) single nucleotide variant not provided [RCV001468692] Chr11:77201626 [GRCh38]
Chr11:76912671 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6174G>A (p.Lys2058=) single nucleotide variant not provided [RCV001399857] Chr11:77211274 [GRCh38]
Chr11:76922319 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4436del (p.Phe1479fs) deletion not provided [RCV001389897] Chr11:77197592 [GRCh38]
Chr11:76908637 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.568T>C (p.Leu190=) single nucleotide variant not provided [RCV001399523] Chr11:77156757 [GRCh38]
Chr11:76867803 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3687G>A (p.Glu1229=) single nucleotide variant not provided [RCV001425063] Chr11:77190076 [GRCh38]
Chr11:76901121 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2282+10C>T single nucleotide variant not provided [RCV001436058] Chr11:77177653 [GRCh38]
Chr11:76888699 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6057G>A (p.Leu2019=) single nucleotide variant not provided [RCV001457587] Chr11:77211157 [GRCh38]
Chr11:76922202 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1671C>T (p.Ile557=) single nucleotide variant not provided [RCV001488118] Chr11:77162969 [GRCh38]
Chr11:76874015 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5523G>T (p.Thr1841=) single nucleotide variant not provided [RCV001491130] Chr11:77205504 [GRCh38]
Chr11:76916549 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.964C>T (p.Leu322=) single nucleotide variant not provided [RCV001458947] Chr11:77158391 [GRCh38]
Chr11:76869437 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1004-20G>A single nucleotide variant not provided [RCV001482980] Chr11:77159427 [GRCh38]
Chr11:76870473 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3789A>C (p.Thr1263=) single nucleotide variant not provided [RCV001417674] Chr11:77190735 [GRCh38]
Chr11:76901780 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3675G>A (p.Pro1225=) single nucleotide variant not provided [RCV001496729] Chr11:77190064 [GRCh38]
Chr11:76901109 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.393C>A (p.Pro131=) single nucleotide variant not provided [RCV001465952] Chr11:77156014 [GRCh38]
Chr11:76867060 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3324G>A (p.Arg1108=) single nucleotide variant not provided [RCV001486316] Chr11:77183106 [GRCh38]
Chr11:76894151 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4176C>T (p.Ala1392=) single nucleotide variant not provided [RCV001425782] Chr11:77194377 [GRCh38]
Chr11:76905422 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6138C>T (p.Phe2046=) single nucleotide variant not provided [RCV001405403] Chr11:77211238 [GRCh38]
Chr11:76922283 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1021C>T (p.Leu341=) single nucleotide variant not provided [RCV001482603] Chr11:77159464 [GRCh38]
Chr11:76870510 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3330G>A (p.Lys1110=) single nucleotide variant not provided [RCV001505284] Chr11:77183112 [GRCh38]
Chr11:76894157 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.783T>A (p.Gly261=) single nucleotide variant not provided [RCV001475595] Chr11:77157326 [GRCh38]
Chr11:76868372 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2758C>A (p.Arg920=) single nucleotide variant not provided [RCV001500409] Chr11:77181443 [GRCh38]
Chr11:76892489 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5043+8G>A single nucleotide variant not provided [RCV001483584] Chr11:77201646 [GRCh38]
Chr11:76912691 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2472C>T (p.Cys824=) single nucleotide variant not provided [RCV001486490] Chr11:77179839 [GRCh38]
Chr11:76890885 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1623C>T (p.Pro541=) single nucleotide variant not provided [RCV001486498] Chr11:77162921 [GRCh38]
Chr11:76873967 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4437C>T (p.Phe1479=) single nucleotide variant not provided [RCV001403068] Chr11:77197594 [GRCh38]
Chr11:76908639 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3333G>A (p.Leu1111=) single nucleotide variant not provided [RCV001442018] Chr11:77183115 [GRCh38]
Chr11:76894160 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5857-7_5857-6delinsTT indel not provided [RCV001471721] Chr11:77208423..77208424 [GRCh38]
Chr11:76919468..76919469 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.47_48inv (p.Leu16Ser) inversion not provided [RCV001475655] Chr11:77142737..77142738 [GRCh38]
Chr11:76853783..76853784 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3849C>G (p.Leu1283=) single nucleotide variant not provided [RCV001452355] Chr11:77190795 [GRCh38]
Chr11:76901840 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.681C>T (p.Ile227=) single nucleotide variant not provided [RCV001476992] Chr11:77156950 [GRCh38]
Chr11:76867996 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2592G>A (p.Leu864=) single nucleotide variant not provided [RCV001459720] Chr11:77180379 [GRCh38]
Chr11:76891425 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1329C>T (p.Asn443=) single nucleotide variant not provided [RCV001500712] Chr11:77161101 [GRCh38]
Chr11:76872147 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1266C>T (p.Pro422=) single nucleotide variant not provided [RCV001483639] Chr11:77161038 [GRCh38]
Chr11:76872084 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4569-9C>A single nucleotide variant not provided [RCV001431230] Chr11:77199526 [GRCh38]
Chr11:76910571 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.669G>A (p.Lys223=) single nucleotide variant not provided [RCV001431231] Chr11:77156938 [GRCh38]
Chr11:76867984 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2100C>T (p.Asp700=) single nucleotide variant not provided [RCV001405691] Chr11:77175377 [GRCh38]
Chr11:76886423 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2361C>T (p.Tyr787=) single nucleotide variant not provided [RCV001462391] Chr11:77179123 [GRCh38]
Chr11:76890169 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3888G>T (p.Arg1296=) single nucleotide variant not provided [RCV001503322] Chr11:77190834 [GRCh38]
Chr11:76901879 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5547C>A (p.Ile1849=) single nucleotide variant not provided [RCV001505565] Chr11:77205528 [GRCh38]
Chr11:76916573 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.1935+8_1935+9delinsAA indel not provided [RCV001471840] Chr11:77172893..77172894 [GRCh38]
Chr11:76883939..76883940 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6558+10C>T single nucleotide variant not provided [RCV001471841] Chr11:77213989 [GRCh38]
Chr11:76925034 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5169-4G>A single nucleotide variant not provided [RCV001474405] Chr11:77203056 [GRCh38]
Chr11:76914101 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6292C>T (p.Leu2098=) single nucleotide variant not provided [RCV001492909] Chr11:77211875 [GRCh38]
Chr11:76922920 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4548C>T (p.Ile1516=) single nucleotide variant not provided [RCV001486831] Chr11:77198601 [GRCh38]
Chr11:76909646 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.111G>A (p.Gln37=) single nucleotide variant not provided [RCV001418581] Chr11:77142801 [GRCh38]
Chr11:76853847 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6023T>C (p.Met2008Thr) single nucleotide variant not provided [RCV001403347] Chr11:77208775 [GRCh38]
Chr11:76919820 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4056G>A (p.Thr1352=) single nucleotide variant not provided [RCV001439698] Chr11:77192182 [GRCh38]
Chr11:76903227 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.234G>A (p.Glu78=) single nucleotide variant not provided [RCV001392894] Chr11:77147899 [GRCh38]
Chr11:76858945 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5271C>T (p.Leu1757=) single nucleotide variant not provided [RCV001483134] Chr11:77203162 [GRCh38]
Chr11:76914207 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4324-8C>T single nucleotide variant not provided [RCV001468299] Chr11:77197473 [GRCh38]
Chr11:76908518 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4242C>T (p.Pro1414=) single nucleotide variant not provided [RCV001504267] Chr11:77194443 [GRCh38]
Chr11:76905488 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.228C>T (p.Leu76=) single nucleotide variant not provided [RCV001486897] Chr11:77147893 [GRCh38]
Chr11:76858939 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3930C>T (p.Ser1310=) single nucleotide variant not provided [RCV001426390] Chr11:77192056 [GRCh38]
Chr11:76903101 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1935+9C>T single nucleotide variant not provided [RCV001400923] Chr11:77172894 [GRCh38]
Chr11:76883940 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.736-9C>T single nucleotide variant not provided [RCV001429007] Chr11:77157270 [GRCh38]
Chr11:76868316 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.675C>T (p.Gly225=) single nucleotide variant not provided [RCV001500659] Chr11:77156944 [GRCh38]
Chr11:76867990 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.498G>A (p.Glu166=) single nucleotide variant not provided [RCV001503511] Chr11:77156687 [GRCh38]
Chr11:76867733 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.165C>T (p.His55=) single nucleotide variant not provided [RCV001491733] Chr11:77147830 [GRCh38]
Chr11:76858876 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3087T>C (p.His1029=) single nucleotide variant not provided [RCV001484350] Chr11:77182133 [GRCh38]
Chr11:76893179 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.162G>A (p.Thr54=) single nucleotide variant not provided [RCV001487311] Chr11:77147827 [GRCh38]
Chr11:76858873 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4515G>A (p.Glu1505=) single nucleotide variant not provided [RCV001470328] Chr11:77198568 [GRCh38]
Chr11:76909613 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.717G>A (p.Lys239=) single nucleotide variant not provided [RCV001403727] Chr11:77156986 [GRCh38]
Chr11:76868032 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4674G>A (p.Trp1558Ter) single nucleotide variant not provided [RCV001390833] Chr11:77199640 [GRCh38]
Chr11:76910685 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5256C>G (p.Leu1752=) single nucleotide variant not provided [RCV001442640] Chr11:77203147 [GRCh38]
Chr11:76914192 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2097C>A (p.Gly699=) single nucleotide variant not provided [RCV001406144] Chr11:77175374 [GRCh38]
Chr11:76886420 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.471-6C>T single nucleotide variant not provided [RCV001406151] Chr11:77156654 [GRCh38]
Chr11:76867700 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6171C>T (p.Pro2057=) single nucleotide variant not provided [RCV001500797] Chr11:77211271 [GRCh38]
Chr11:76922316 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1213C>A (p.Arg405=) single nucleotide variant not provided [RCV001466237] Chr11:77160985 [GRCh38]
Chr11:76872031 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4236C>T (p.Leu1412=) single nucleotide variant not provided [RCV001472215] Chr11:77194437 [GRCh38]
Chr11:76905482 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3840C>T (p.Ala1280=) single nucleotide variant not provided [RCV001472235] Chr11:77190786 [GRCh38]
Chr11:76901831 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5349C>A (p.Asp1783Glu) single nucleotide variant not provided [RCV001491836] Chr11:77204098 [GRCh38]
Chr11:76915143 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.3642C>T (p.Asn1214=) single nucleotide variant not provided [RCV001470403] Chr11:77190031 [GRCh38]
Chr11:76901076 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.60C>T (p.Phe20=) single nucleotide variant not provided [RCV001487734] Chr11:77142750 [GRCh38]
Chr11:76853796 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3015G>C (p.Ala1005=) single nucleotide variant not provided [RCV001426787] Chr11:77182061 [GRCh38]
Chr11:76893107 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5857-1_5857delinsAT indel not provided [RCV001379617] Chr11:77208429..77208430 [GRCh38]
Chr11:76919474..76919475 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6591C>T (p.Tyr2197=) single nucleotide variant not provided [RCV001403890] Chr11:77214639 [GRCh38]
Chr11:76925684 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.876G>T (p.Arg292=) single nucleotide variant not provided [RCV001486013] Chr11:77158303 [GRCh38]
Chr11:76869349 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6423C>T (p.Ile2141=) single nucleotide variant not provided [RCV001506367] Chr11:77213020 [GRCh38]
Chr11:76924065 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1872G>A (p.Thr624=) single nucleotide variant not provided [RCV001491954] Chr11:77172822 [GRCh38]
Chr11:76883868 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2283-4T>G single nucleotide variant not provided [RCV001478332] Chr11:77179041 [GRCh38]
Chr11:76890087 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5001G>A (p.Val1667=) single nucleotide variant not provided [RCV001481548] Chr11:77201596 [GRCh38]
Chr11:76912641 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.46T>C (p.Leu16=) single nucleotide variant not provided [RCV001457043] Chr11:77142736 [GRCh38]
Chr11:76853782 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1080+7G>A single nucleotide variant not provided [RCV001470819] Chr11:77159530 [GRCh38]
Chr11:76870576 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4464C>T (p.Asp1488=) single nucleotide variant not provided [RCV001427105]|not specified [RCV001699544] Chr11:77198517 [GRCh38]
Chr11:76909562 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.3924+9G>A single nucleotide variant not provided [RCV001427113] Chr11:77190879 [GRCh38]
Chr11:76901924 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.87G>A (p.Lys29=) single nucleotide variant not provided [RCV001456495] Chr11:77142777 [GRCh38]
Chr11:76853823 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3834C>T (p.Thr1278=) single nucleotide variant not provided [RCV001463801] Chr11:77190780 [GRCh38]
Chr11:76901825 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3288C>A (p.Ala1096=) single nucleotide variant not provided [RCV001484935] Chr11:77183070 [GRCh38]
Chr11:76894115 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3891C>T (p.Phe1297=) single nucleotide variant not provided [RCV001471286] Chr11:77190837 [GRCh38]
Chr11:76901882 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1785C>T (p.Ala595=) single nucleotide variant not provided [RCV001497691] Chr11:77166150 [GRCh38]
Chr11:76877196 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1214G>A (p.Arg405Gln) single nucleotide variant not provided [RCV001490092] Chr11:77160986 [GRCh38]
Chr11:76872032 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.42G>A (p.Leu14=) single nucleotide variant not provided [RCV001474845] Chr11:77142732 [GRCh38]
Chr11:76853778 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5433C>T (p.Asp1811=) single nucleotide variant not provided [RCV001474846] Chr11:77204182 [GRCh38]
Chr11:76915227 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1503C>T (p.Asn501=) single nucleotide variant not provided [RCV001493619] Chr11:77162279 [GRCh38]
Chr11:76873325 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1296C>T (p.Ser432=) single nucleotide variant not provided [RCV001493660] Chr11:77161068 [GRCh38]
Chr11:76872114 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.592+16C>T single nucleotide variant not provided [RCV001471586] Chr11:77156797 [GRCh38]
Chr11:76867843 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6297del (p.Phe2100fs) deletion not provided [RCV001384349] Chr11:77211879 [GRCh38]
Chr11:76922924 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4326G>A (p.Gly1442=) single nucleotide variant not provided [RCV001453192] Chr11:77197483 [GRCh38]
Chr11:76908528 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.470+6C>T single nucleotide variant not provided [RCV001536667] Chr11:77156097 [GRCh38]
Chr11:76867143 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.6000C>G (p.Thr2000=) single nucleotide variant not provided [RCV001437007] Chr11:77208752 [GRCh38]
Chr11:76919797 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.395C>T (p.Pro132Leu) single nucleotide variant not provided [RCV001378982] Chr11:77156016 [GRCh38]
Chr11:76867062 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.3039C>T (p.Thr1013=) single nucleotide variant not provided [RCV001426129] Chr11:77182085 [GRCh38]
Chr11:76893131 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5637-8C>A single nucleotide variant not provided [RCV001439312] Chr11:77206089 [GRCh38]
Chr11:76917134 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3435C>T (p.Asp1145=) single nucleotide variant not provided [RCV001441005] Chr11:77184647 [GRCh38]
Chr11:76895692 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.593-8C>T single nucleotide variant not provided [RCV001424595] Chr11:77156854 [GRCh38]
Chr11:76867900 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4776C>T (p.Asp1592=) single nucleotide variant not provided [RCV001394188] Chr11:77199742 [GRCh38]
Chr11:76910787 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6120G>C (p.Leu2040=) single nucleotide variant not provided [RCV001416876] Chr11:77211220 [GRCh38]
Chr11:76922265 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3810G>A (p.Lys1270=) single nucleotide variant not provided [RCV001426173] Chr11:77190756 [GRCh38]
Chr11:76901801 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4764G>A (p.Glu1588=) single nucleotide variant not provided [RCV001419954] Chr11:77199730 [GRCh38]
Chr11:76910775 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.63C>T (p.Asp21=) single nucleotide variant not provided [RCV001402103] Chr11:77142753 [GRCh38]
Chr11:76853799 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2440dup (p.Arg814fs) duplication not provided [RCV001380496] Chr11:77179804..77179805 [GRCh38]
Chr11:76890850..76890851 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2436G>A (p.Leu812=) single nucleotide variant not provided [RCV001448840] Chr11:77179803 [GRCh38]
Chr11:76890849 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.957G>A (p.Ser319=) single nucleotide variant not provided [RCV001435645] Chr11:77158384 [GRCh38]
Chr11:76869430 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6237+13_6237+33del deletion not provided [RCV001424778] Chr11:77211345..77211365 [GRCh38]
Chr11:76922390..76922410 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4153-19G>A single nucleotide variant not provided [RCV001430129] Chr11:77194335 [GRCh38]
Chr11:76905380 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1156C>T (p.Leu386=) single nucleotide variant not provided [RCV001404500] Chr11:77160238 [GRCh38]
Chr11:76871284 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5526C>T (p.Gly1842=) single nucleotide variant not provided [RCV001446136] Chr11:77205507 [GRCh38]
Chr11:76916552 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3925-10G>A single nucleotide variant not provided [RCV001436361] Chr11:77192041 [GRCh38]
Chr11:76903086 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1782G>A (p.Gln594=) single nucleotide variant not provided [RCV001443841] Chr11:77166147 [GRCh38]
Chr11:76877193 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2643G>A (p.Arg881=) single nucleotide variant not provided [RCV001392990] Chr11:77180430 [GRCh38]
Chr11:76891476 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.69C>T (p.Pro23=) single nucleotide variant not provided [RCV001428852] Chr11:77142759 [GRCh38]
Chr11:76853805 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.930C>T (p.Phe310=) single nucleotide variant not provided [RCV001409657] Chr11:77158357 [GRCh38]
Chr11:76869403 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2188-8C>T single nucleotide variant not provided [RCV001409688] Chr11:77177541 [GRCh38]
Chr11:76888587 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1935+10C>T single nucleotide variant not provided [RCV001425503] Chr11:77172895 [GRCh38]
Chr11:76883941 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001823206]|not provided [RCV001389906] Chr11:77211226 [GRCh38]
Chr11:76922271 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6246C>T (p.Val2082=) single nucleotide variant not provided [RCV001444073] Chr11:77211829 [GRCh38]
Chr11:76922874 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2145C>T (p.Thr715=) single nucleotide variant not provided [RCV001407463] Chr11:77175422 [GRCh38]
Chr11:76886468 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4800del (p.Leu1601fs) deletion not provided [RCV001388287] Chr11:77199763 [GRCh38]
Chr11:76910808 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1950C>T (p.His650=) single nucleotide variant not provided [RCV001400265] Chr11:77174770 [GRCh38]
Chr11:76885816 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5139G>A (p.Thr1713=) single nucleotide variant not provided [RCV001407560] Chr11:77202395 [GRCh38]
Chr11:76913440 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.133-5C>T single nucleotide variant not provided [RCV001410099] Chr11:77147793 [GRCh38]
Chr11:76858839 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1311C>T (p.Asp437=) single nucleotide variant not provided [RCV001446795] Chr11:77161083 [GRCh38]
Chr11:76872129 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3099T>G (p.Gly1033=) single nucleotide variant not provided [RCV001446839] Chr11:77182145 [GRCh38]
Chr11:76893191 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1809C>G (p.Thr603=) single nucleotide variant not provided [RCV001415629] Chr11:77172759 [GRCh38]
Chr11:76883805 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4441+57_4441+196del deletion not provided [RCV001430624] Chr11:77197607..77197746 [GRCh38]
Chr11:76908652..76908791 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1803C>T (p.Ala601=) single nucleotide variant not provided [RCV001449311] Chr11:77172753 [GRCh38]
Chr11:76883799 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2505C>T (p.His835=) single nucleotide variant not provided [RCV001393227] Chr11:77179872 [GRCh38]
Chr11:76890918 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.162G>C (p.Thr54=) single nucleotide variant not provided [RCV001418976] Chr11:77147827 [GRCh38]
Chr11:76858873 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3756C>T (p.Thr1252=) single nucleotide variant not provided [RCV001430688] Chr11:77190702 [GRCh38]
Chr11:76901747 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3503+10_3503+31del deletion not provided [RCV001407589] Chr11:77184722..77184743 [GRCh38]
Chr11:76895767..76895788 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3264G>A (p.Gln1088=) single nucleotide variant not provided [RCV001449487] Chr11:77182579 [GRCh38]
Chr11:76893624 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2003G>C (p.Arg668Pro) single nucleotide variant not provided [RCV001379002] Chr11:77174823 [GRCh38]
Chr11:76885869 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.593-18A>G single nucleotide variant not provided [RCV001444497] Chr11:77156844 [GRCh38]
Chr11:76867890 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4777C>T (p.Leu1593=) single nucleotide variant not provided [RCV001410437] Chr11:77199743 [GRCh38]
Chr11:76910788 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=) single nucleotide variant Usher syndrome type 1B [RCV001831450]|not provided [RCV001410538] Chr11:77208501 [GRCh38]
Chr11:76919546 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4296C>T (p.Ala1432=) single nucleotide variant not provided [RCV001410550] Chr11:77194497 [GRCh38]
Chr11:76905542 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.231C>T (p.Asn77=) single nucleotide variant not provided [RCV001437098] Chr11:77147896 [GRCh38]
Chr11:76858942 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5814G>A (p.Lys1938=) single nucleotide variant not provided [RCV001405668] Chr11:77207360 [GRCh38]
Chr11:76918405 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4470C>T (p.Ile1490=) single nucleotide variant not provided [RCV001444614] Chr11:77198523 [GRCh38]
Chr11:76909568 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1004-8G>A single nucleotide variant not provided [RCV001444636] Chr11:77159439 [GRCh38]
Chr11:76870485 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5280C>T (p.Leu1760=) single nucleotide variant not provided [RCV001444644] Chr11:77203171 [GRCh38]
Chr11:76914216 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.133-88C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533387]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533388]|Usher syndrome type 1 [RCV001533389]|not provided [RCV001615253] Chr11:77147710 [GRCh38]
Chr11:76858756 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4441+195G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001533401]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533402]|Usher syndrome type 1 [RCV001533403] Chr11:77197793 [GRCh38]
Chr11:76908838 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3249C>A (p.Tyr1083Ter) single nucleotide variant not provided [RCV001388627] Chr11:77182564 [GRCh38]
Chr11:76893609 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4731G>A (p.Gly1577=) single nucleotide variant not provided [RCV001431133] Chr11:77199697 [GRCh38]
Chr11:76910742 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3606C>T (p.Phe1202=) single nucleotide variant not provided [RCV001407965] Chr11:77189446 [GRCh38]
Chr11:76900491 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2367+9C>T single nucleotide variant not provided [RCV001407981] Chr11:77179138 [GRCh38]
Chr11:76890184 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter) single nucleotide variant Usher syndrome type 1B [RCV001826164]|not provided [RCV001383416] Chr11:77204177 [GRCh38]
Chr11:76915222 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4266C>T (p.Ile1422=) single nucleotide variant not provided [RCV001434266] Chr11:77194467 [GRCh38]
Chr11:76905512 [GRCh37]
Chr11:11q13.5
likely benign
NC_000011.9:g.(?_76911660)_76917177del deletion not provided [RCV001379203]   likely pathogenic
NM_000260.4(MYO7A):c.4305C>T (p.Ala1435=) single nucleotide variant not provided [RCV001434801] Chr11:77194506 [GRCh38]
Chr11:76905551 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4770dup (p.Arg1591fs) duplication not provided [RCV001386672] Chr11:77199734..77199735 [GRCh38]
Chr11:76910779..76910780 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1314C>T (p.Ile438=) single nucleotide variant not provided [RCV001408203] Chr11:77161086 [GRCh38]
Chr11:76872132 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3894G>T (p.Gly1298=) single nucleotide variant not provided [RCV001423527] Chr11:77190840 [GRCh38]
Chr11:76901885 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1917T>C (p.Asn639=) single nucleotide variant not provided [RCV001423647] Chr11:77172867 [GRCh38]
Chr11:76883913 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5550C>T (p.Leu1850=) single nucleotide variant not provided [RCV001429018] Chr11:77205531 [GRCh38]
Chr11:76916576 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1185C>T (p.Arg395=) single nucleotide variant not provided [RCV001447570] Chr11:77160267 [GRCh38]
Chr11:76871313 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.592+17G>A single nucleotide variant not provided [RCV001447680] Chr11:77156798 [GRCh38]
Chr11:76867844 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.523C>T (p.Leu175=) single nucleotide variant not provided [RCV001424014] Chr11:77156712 [GRCh38]
Chr11:76867758 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.55G>T (p.Glu19Ter) single nucleotide variant not provided [RCV001386770] Chr11:77142745 [GRCh38]
Chr11:76853791 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4554C>T (p.Ala1518=) single nucleotide variant not provided [RCV001398178] Chr11:77198607 [GRCh38]
Chr11:76909652 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5424C>T (p.Pro1808=) single nucleotide variant not provided [RCV001411100] Chr11:77204173 [GRCh38]
Chr11:76915218 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.19-5del deletion not provided [RCV001403999] Chr11:77142702 [GRCh38]
Chr11:76853748 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1179C>T (p.Asp393=) single nucleotide variant not provided [RCV001431500] Chr11:77160261 [GRCh38]
Chr11:76871307 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.592+7C>T single nucleotide variant not provided [RCV001408417] Chr11:77156788 [GRCh38]
Chr11:76867834 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1125C>T (p.Leu375=) single nucleotide variant not provided [RCV001408468] Chr11:77160207 [GRCh38]
Chr11:76871253 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1548C>T (p.Phe516=) single nucleotide variant not provided [RCV001440210] Chr11:77162324 [GRCh38]
Chr11:76873370 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3255G>A (p.Arg1085=) single nucleotide variant not provided [RCV001408783] Chr11:77182570 [GRCh38]
Chr11:76893615 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3503+10G>T single nucleotide variant not provided [RCV001425707] Chr11:77184725 [GRCh38]
Chr11:76895770 [GRCh37]
Chr11:11q13.5
likely benign
NC_000011.9:g.(?_76924874)_76927099del deletion not provided [RCV001378672]   likely pathogenic
NM_000260.4(MYO7A):c.2457G>A (p.Gln819=) single nucleotide variant not provided [RCV001431641] Chr11:77179824 [GRCh38]
Chr11:76890870 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4446C>T (p.Pro1482=) single nucleotide variant not provided [RCV001447778] Chr11:77198499 [GRCh38]
Chr11:76909544 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1509C>T (p.Pro503=) single nucleotide variant not provided [RCV001427254] Chr11:77162285 [GRCh38]
Chr11:76873331 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4767C>T (p.Asp1589=) single nucleotide variant not provided [RCV001429444] Chr11:77199733 [GRCh38]
Chr11:76910778 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5316G>A (p.Leu1772=) single nucleotide variant not provided [RCV001411429] Chr11:77203207 [GRCh38]
Chr11:76914252 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5055C>T (p.Thr1685=) single nucleotide variant not provided [RCV001400357] Chr11:77202311 [GRCh38]
Chr11:76913356 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.849+2T>C single nucleotide variant not provided [RCV001387797] Chr11:77157394 [GRCh38]
Chr11:76868440 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5301G>A (p.Ser1767=) single nucleotide variant not provided [RCV001445418] Chr11:77203192 [GRCh38]
Chr11:76914237 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5853C>T (p.Asp1951=) single nucleotide variant not provided [RCV001416409] Chr11:77207399 [GRCh38]
Chr11:76918444 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3540C>T (p.Thr1180=) single nucleotide variant not provided [RCV001440501] Chr11:77189380 [GRCh38]
Chr11:76900425 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.850-81T>C single nucleotide variant not provided [RCV001535360] Chr11:77158196 [GRCh38]
Chr11:76869242 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5808C>G (p.Leu1936=) single nucleotide variant not provided [RCV001401748] Chr11:77207354 [GRCh38]
Chr11:76918399 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3925-6C>T single nucleotide variant not provided [RCV001419634] Chr11:77192045 [GRCh38]
Chr11:76903090 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4794A>G (p.Leu1598=) single nucleotide variant not provided [RCV001439180] Chr11:77199760 [GRCh38]
Chr11:76910805 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2403C>T (p.His801=) single nucleotide variant not provided [RCV001429805] Chr11:77179770 [GRCh38]
Chr11:76890816 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.753C>T (p.Asn251=) single nucleotide variant not provided [RCV001408928] Chr11:77157296 [GRCh38]
Chr11:76868342 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3714G>A (p.Gly1238=) single nucleotide variant not provided [RCV001408947] Chr11:77190103 [GRCh38]
Chr11:76901148 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.720A>G (p.Ser240=) single nucleotide variant not provided [RCV001448151] Chr11:77156989 [GRCh38]
Chr11:76868035 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5946A>G (p.Gly1982=) single nucleotide variant not provided [RCV001448162] Chr11:77208698 [GRCh38]
Chr11:76919743 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.733C>T (p.Gln245Ter) single nucleotide variant Nonsyndromic genetic hearing loss [RCV001544527]|not provided [RCV001387071] Chr11:77157002 [GRCh38]
Chr11:76868048 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6021C>T (p.Pro2007=) single nucleotide variant not provided [RCV001429821] Chr11:77208773 [GRCh38]
Chr11:76919818 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4153-4C>A single nucleotide variant not provided [RCV001404292] Chr11:77194350 [GRCh38]
Chr11:76905395 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-8C>T single nucleotide variant not provided [RCV001404293] Chr11:77172740 [GRCh38]
Chr11:76883786 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2925G>A (p.Arg975=) single nucleotide variant not provided [RCV001432195] Chr11:77181971 [GRCh38]
Chr11:76893017 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3942C>T (p.Ser1314=) single nucleotide variant not provided [RCV001424442] Chr11:77192068 [GRCh38]
Chr11:76903113 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.168C>T (p.Ile56=) single nucleotide variant not provided [RCV001400470] Chr11:77147833 [GRCh38]
Chr11:76858879 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4077G>A (p.Glu1359=) single nucleotide variant not provided [RCV001403021] Chr11:77192203 [GRCh38]
Chr11:76903248 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1404C>T (p.His468=) single nucleotide variant not provided [RCV001435567] Chr11:77162180 [GRCh38]
Chr11:76873226 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5199C>G (p.Val1733=) single nucleotide variant not provided [RCV001394276] Chr11:77203090 [GRCh38]
Chr11:76914135 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2722del (p.Asp908fs) deletion not provided [RCV001382109] Chr11:77181406 [GRCh38]
Chr11:76892452 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5976C>T (p.Phe1992=) single nucleotide variant not provided [RCV001432418] Chr11:77208728 [GRCh38]
Chr11:76919773 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.285+10_285+24del deletion not provided [RCV001443386] Chr11:77147955..77147969 [GRCh38]
Chr11:76859001..76859015 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3925-18_3925-5del deletion not provided [RCV001432505] Chr11:77192030..77192043 [GRCh38]
Chr11:76903075..76903088 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5326+9G>A single nucleotide variant not provided [RCV001409332] Chr11:77203226 [GRCh38]
Chr11:76914271 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5226C>T (p.Asp1742=) single nucleotide variant not provided [RCV001448573] Chr11:77203117 [GRCh38]
Chr11:76914162 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1143G>A (p.Thr381=) single nucleotide variant not provided [RCV001481949] Chr11:77160225 [GRCh38]
Chr11:76871271 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4089C>T (p.Ala1363=) single nucleotide variant not provided [RCV001472591] Chr11:77192215 [GRCh38]
Chr11:76903260 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2905-158T>G single nucleotide variant not provided [RCV001539743] Chr11:77181793 [GRCh38]
Chr11:76892839 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1004-36T>C single nucleotide variant not provided [RCV001540291] Chr11:77159411 [GRCh38]
Chr11:76870457 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3267C>G (p.Ala1089=) single nucleotide variant not provided [RCV001498653] Chr11:77182582 [GRCh38]
Chr11:76893627 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4017C>T (p.Asn1339=) single nucleotide variant not provided [RCV001457030] Chr11:77192143 [GRCh38]
Chr11:76903188 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5793C>T (p.Ile1931=) single nucleotide variant not provided [RCV001481614] Chr11:77207339 [GRCh38]
Chr11:76918384 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3261G>A (p.Leu1087=) single nucleotide variant not provided [RCV001457107] Chr11:77182576 [GRCh38]
Chr11:76893621 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2084C>G (p.Ala695Gly) single nucleotide variant Usher syndrome type 1B [RCV001836460]|not provided [RCV001583570] Chr11:77174904 [GRCh38]
Chr11:76885950 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2904+142G>A single nucleotide variant not provided [RCV001617179] Chr11:77181731 [GRCh38]
Chr11:76892777 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1245C>T (p.Asn415=) single nucleotide variant not provided [RCV001457548] Chr11:77161017 [GRCh38]
Chr11:76872063 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4441+88_4441+89insCGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAA insertion not provided [RCV001468530] Chr11:77197617..77197618 [GRCh38]
Chr11:76908662..76908663 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4713G>A (p.Thr1571=) single nucleotide variant Usher syndrome type 1B [RCV001826297]|not provided [RCV001468586] Chr11:77199679 [GRCh38]
Chr11:76910724 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4153-4C>T single nucleotide variant not provided [RCV001454098] Chr11:77194350 [GRCh38]
Chr11:76905395 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1407G>A (p.Val469=) single nucleotide variant not provided [RCV001457163] Chr11:77162183 [GRCh38]
Chr11:76873229 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2905-179_2905-173del deletion not provided [RCV001655353] Chr11:77181768..77181774 [GRCh38]
Chr11:76892814..76892820 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5040T>A (p.Ile1680=) single nucleotide variant not provided [RCV001457638] Chr11:77201635 [GRCh38]
Chr11:76912680 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV002449398]|not provided [RCV001682647] Chr11:77166103..77166110 [GRCh38]
Chr11:76877149..76877156 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.393C>G (p.Pro131=) single nucleotide variant not provided [RCV001472970] Chr11:77156014 [GRCh38]
Chr11:76867060 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-5C>T single nucleotide variant not provided [RCV001494977] Chr11:77172743 [GRCh38]
Chr11:76883789 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6531G>C (p.Gly2177=) single nucleotide variant not provided [RCV001502056] Chr11:77213952 [GRCh38]
Chr11:76924997 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.873C>T (p.Gly291=) single nucleotide variant not provided [RCV001461856] Chr11:77158300 [GRCh38]
Chr11:76869346 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5044-8G>T single nucleotide variant not provided [RCV001450914] Chr11:77202292 [GRCh38]
Chr11:76913337 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5743-10C>T single nucleotide variant not provided [RCV001502945] Chr11:77207279 [GRCh38]
Chr11:76918324 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5480+20C>T single nucleotide variant not provided [RCV001509947] Chr11:77204249 [GRCh38]
Chr11:76915294 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1343+13del deletion not provided [RCV001516063] Chr11:77161125 [GRCh38]
Chr11:76872171 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5324T>A (p.Ile1775Asn) single nucleotide variant Usher syndrome type 1B [RCV001832823]|not provided [RCV001592719] Chr11:77203215 [GRCh38]
Chr11:76914260 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2701C>T (p.Leu901=) single nucleotide variant not provided [RCV001458870] Chr11:77181386 [GRCh38]
Chr11:76892432 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3114C>G (p.Ala1038=) single nucleotide variant not provided [RCV001506805] Chr11:77182429 [GRCh38]
Chr11:76893474 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3042G>A (p.Thr1014=) single nucleotide variant not provided [RCV001458507] Chr11:77182088 [GRCh38]
Chr11:76893134 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1797+8G>T single nucleotide variant not provided [RCV001457976] Chr11:77166170 [GRCh38]
Chr11:76877216 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2367+82C>A single nucleotide variant not provided [RCV001586635] Chr11:77179211 [GRCh38]
Chr11:76890257 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2268G>T (p.Arg756=) single nucleotide variant not provided [RCV001476280] Chr11:77177629 [GRCh38]
Chr11:76888675 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6123C>T (p.Ile2041=) single nucleotide variant not provided [RCV001455221] Chr11:77211223 [GRCh38]
Chr11:76922268 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3285+108C>T single nucleotide variant not provided [RCV001588684] Chr11:77182708 [GRCh38]
Chr11:76893753 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6558+7G>A single nucleotide variant not provided [RCV001496746] Chr11:77213986 [GRCh38]
Chr11:76925031 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6052-9C>T single nucleotide variant not provided [RCV001465971] Chr11:77211143 [GRCh38]
Chr11:76922188 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.192C>T (p.Val64=) single nucleotide variant not provided [RCV001465994] Chr11:77147857 [GRCh38]
Chr11:76858903 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6051+10T>C single nucleotide variant not provided [RCV001452148] Chr11:77208813 [GRCh38]
Chr11:76919858 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5327-173A>G single nucleotide variant not provided [RCV001713744] Chr11:77203903 [GRCh38]
Chr11:76914948 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4290G>A (p.Lys1430=) single nucleotide variant not provided [RCV001476752] Chr11:77194491 [GRCh38]
Chr11:76905536 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2958G>C (p.Leu986=) single nucleotide variant not provided [RCV001462832] Chr11:77182004 [GRCh38]
Chr11:76893050 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1620C>T (p.Pro540=) single nucleotide variant not provided [RCV001455718] Chr11:77162918 [GRCh38]
Chr11:76873964 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3907A>G (p.Ile1303Val) single nucleotide variant not provided [RCV001483465] Chr11:77190853 [GRCh38]
Chr11:76901898 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1887G>A (p.Gln629=) single nucleotide variant not provided [RCV001496929] Chr11:77172837 [GRCh38]
Chr11:76883883 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6559-280A>G single nucleotide variant not provided [RCV001695792] Chr11:77214327 [GRCh38]
Chr11:76925372 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4878C>T (p.Ser1626=) single nucleotide variant not provided [RCV001497287] Chr11:77201473 [GRCh38]
Chr11:76912518 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5775G>A (p.Lys1925=) single nucleotide variant not provided [RCV001503889] Chr11:77207321 [GRCh38]
Chr11:76918366 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6033C>T (p.Ser2011=) single nucleotide variant not provided [RCV001466447] Chr11:77208785 [GRCh38]
Chr11:76919830 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.834C>T (p.Tyr278=) single nucleotide variant not provided [RCV001497307] Chr11:77157377 [GRCh38]
Chr11:76868423 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5481-6C>T single nucleotide variant not provided [RCV001487292] Chr11:77205456 [GRCh38]
Chr11:76916501 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6507C>T (p.Ile2169=) single nucleotide variant not provided [RCV001487383] Chr11:77213928 [GRCh38]
Chr11:76924973 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3015G>A (p.Ala1005=) single nucleotide variant not provided [RCV001455711] Chr11:77182061 [GRCh38]
Chr11:76893107 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1344-12G>A single nucleotide variant not provided [RCV001480301] Chr11:77162108 [GRCh38]
Chr11:76873154 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.471-73G>A single nucleotide variant not provided [RCV001587767] Chr11:77156587 [GRCh38]
Chr11:76867633 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2586+65C>T single nucleotide variant not provided [RCV001715627] Chr11:77180018 [GRCh38]
Chr11:76891064 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4311C>T (p.Ala1437=) single nucleotide variant not provided [RCV001480673] Chr11:77194512 [GRCh38]
Chr11:76905557 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1359C>T (p.Cys453=) single nucleotide variant not provided [RCV001503976] Chr11:77162135 [GRCh38]
Chr11:76873181 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.222G>A (p.Gly74=) single nucleotide variant not provided [RCV001497405] Chr11:77147887 [GRCh38]
Chr11:76858933 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3615C>G (p.Ser1205=) single nucleotide variant not provided [RCV001487789] Chr11:77189455 [GRCh38]
Chr11:76900500 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3174C>T (p.His1058=) single nucleotide variant not provided [RCV001477130] Chr11:77182489 [GRCh38]
Chr11:76893534 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.64G>T (p.Val22Leu) single nucleotide variant Usher syndrome type 1B [RCV001832770]|not provided [RCV001565152] Chr11:77142754 [GRCh38]
Chr11:76853800 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4269G>A (p.Thr1423=) single nucleotide variant not provided [RCV001497651] Chr11:77194470 [GRCh38]
Chr11:76905515 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4443C>T (p.Gly1481=) single nucleotide variant not provided [RCV001463326] Chr11:77198496 [GRCh38]
Chr11:76909541 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4711A>T (p.Thr1571Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001580739] Chr11:77199677 [GRCh38]
Chr11:76910722 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5327-425G>C single nucleotide variant not provided [RCV001616504] Chr11:77203651 [GRCh38]
Chr11:76914696 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2523C>T (p.Leu841=) single nucleotide variant not provided [RCV001477988] Chr11:77179890 [GRCh38]
Chr11:76890936 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3123C>G (p.Val1041=) single nucleotide variant not provided [RCV001463764] Chr11:77182438 [GRCh38]
Chr11:76893483 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2937G>A (p.Glu979=) single nucleotide variant not provided [RCV001460530] Chr11:77181983 [GRCh38]
Chr11:76893029 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2040G>A (p.Glu680=) single nucleotide variant not provided [RCV001456263] Chr11:77174860 [GRCh38]
Chr11:76885906 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.-46-2A>G single nucleotide variant Usher syndrome type 1B [RCV001832814]|not provided [RCV001585450] Chr11:77130587 [GRCh38]
Chr11:76841633 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4153-9C>T single nucleotide variant not provided [RCV001498286] Chr11:77194345 [GRCh38]
Chr11:76905390 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5944+12G>A single nucleotide variant not provided [RCV001478241] Chr11:77208529 [GRCh38]
Chr11:76919574 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6645G>A (p.Lys2215=) single nucleotide variant not provided [RCV001481144] Chr11:77214693 [GRCh38]
Chr11:76925738 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2142C>G (p.Gly714=) single nucleotide variant not provided [RCV001467279] Chr11:77175419 [GRCh38]
Chr11:76886465 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.375G>A (p.Lys125=) single nucleotide variant not provided [RCV001504783] Chr11:77155996 [GRCh38]
Chr11:76867042 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3924+31_3924+46del microsatellite Usher syndrome type 1B [RCV001836431]|not provided [RCV001513904] Chr11:77190880..77190895 [GRCh38]
Chr11:76901925..76901940 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5268G>A (p.Leu1756=) single nucleotide variant not provided [RCV001498543] Chr11:77203159 [GRCh38]
Chr11:76914204 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.849+328G>A single nucleotide variant not provided [RCV001685602] Chr11:77157720 [GRCh38]
Chr11:76868766 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.6438+57C>T single nucleotide variant not provided [RCV001592346] Chr11:77213092 [GRCh38]
Chr11:76924137 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1374T>C (p.Asn458=) single nucleotide variant not provided [RCV001472160] Chr11:77162150 [GRCh38]
Chr11:76873196 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3828G>T (p.Ser1276=) single nucleotide variant not provided [RCV001472163] Chr11:77190774 [GRCh38]
Chr11:76901819 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1003+9G>A single nucleotide variant not provided [RCV001489880] Chr11:77158439 [GRCh38]
Chr11:76869485 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3768G>A (p.Lys1256=) single nucleotide variant not provided [RCV001489944] Chr11:77190714 [GRCh38]
Chr11:76901759 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6207C>T (p.Ile2069=) single nucleotide variant not provided [RCV001472686] Chr11:77211307 [GRCh38]
Chr11:76922352 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2907C>T (p.Asp969=) single nucleotide variant not provided [RCV001435565] Chr11:77181953 [GRCh38]
Chr11:76892999 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3955G>A (p.Val1319Ile) single nucleotide variant not provided [RCV001431054] Chr11:77192081 [GRCh38]
Chr11:76903126 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.5636+7C>T single nucleotide variant not provided [RCV001450775] Chr11:77205624 [GRCh38]
Chr11:76916669 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.564G>A (p.Gln188=) single nucleotide variant not provided [RCV001495597] Chr11:77156753 [GRCh38]
Chr11:76867799 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6333C>T (p.Gly2111=) single nucleotide variant not provided [RCV001462425] Chr11:77211916 [GRCh38]
Chr11:76922961 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5919A>T (p.Ile1973=) single nucleotide variant not provided [RCV001499913] Chr11:77208492 [GRCh38]
Chr11:76919537 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.19-8G>T single nucleotide variant not provided [RCV001425024] Chr11:77142701 [GRCh38]
Chr11:76853747 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2094+10T>G single nucleotide variant not provided [RCV001502867] Chr11:77174924 [GRCh38]
Chr11:76885970 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2694+7T>C single nucleotide variant not provided [RCV001506434] Chr11:77180488 [GRCh38]
Chr11:76891534 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3123C>T (p.Val1041=) single nucleotide variant not provided [RCV001486779] Chr11:77182438 [GRCh38]
Chr11:76893483 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4629A>G (p.Ser1543=) single nucleotide variant not provided [RCV001490147] Chr11:77199595 [GRCh38]
Chr11:76910640 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5691C>T (p.His1897=) single nucleotide variant not provided [RCV001490306] Chr11:77206151 [GRCh38]
Chr11:76917196 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3924+9G>T single nucleotide variant not provided [RCV001490337] Chr11:77190879 [GRCh38]
Chr11:76901924 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1686C>T (p.Thr562=) single nucleotide variant not provided [RCV001431287] Chr11:77162984 [GRCh38]
Chr11:76874030 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4215C>T (p.Ile1405=) single nucleotide variant not provided [RCV001477607] Chr11:77194416 [GRCh38]
Chr11:76905461 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1959G>A (p.Val653=) single nucleotide variant not provided [RCV001499978] Chr11:77174779 [GRCh38]
Chr11:76885825 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1173A>G (p.Ala391=) single nucleotide variant not provided [RCV001436207] Chr11:77160255 [GRCh38]
Chr11:76871301 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-10G>A single nucleotide variant not provided [RCV001399796] Chr11:77172738 [GRCh38]
Chr11:76883784 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.579C>T (p.Thr193=) single nucleotide variant not provided [RCV001487317] Chr11:77156768 [GRCh38]
Chr11:76867814 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.285+10G>A single nucleotide variant not provided [RCV001495438] Chr11:77147960 [GRCh38]
Chr11:76859006 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5314C>T (p.Leu1772=) single nucleotide variant not provided [RCV001417322] Chr11:77203205 [GRCh38]
Chr11:76914250 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2865C>T (p.Gly955=) single nucleotide variant not provided [RCV001431421] Chr11:77181550 [GRCh38]
Chr11:76892596 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5391C>T (p.Asp1797=) single nucleotide variant not provided [RCV001405825] Chr11:77204140 [GRCh38]
Chr11:76915185 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4863G>A (p.Glu1621=) single nucleotide variant not provided [RCV001495932] Chr11:77201458 [GRCh38]
Chr11:76912503 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3834C>G (p.Thr1278=) single nucleotide variant not provided [RCV001460279] Chr11:77190780 [GRCh38]
Chr11:76901825 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6625C>A (p.Arg2209=) single nucleotide variant not provided [RCV001453114] Chr11:77214673 [GRCh38]
Chr11:76925718 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2082G>A (p.Pro694=) single nucleotide variant not provided [RCV001482924] Chr11:77174902 [GRCh38]
Chr11:76885948 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4257C>T (p.Asp1419=) single nucleotide variant not provided [RCV001482958] Chr11:77194458 [GRCh38]
Chr11:76905503 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3522G>A (p.Gln1174=) single nucleotide variant not provided [RCV001506513] Chr11:77189362 [GRCh38]
Chr11:76900407 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5253G>C (p.Pro1751=) single nucleotide variant not provided [RCV001506515] Chr11:77203144 [GRCh38]
Chr11:76914189 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5043+10C>T single nucleotide variant not provided [RCV001506528] Chr11:77201648 [GRCh38]
Chr11:76912693 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4442-6T>C single nucleotide variant not provided [RCV001490753] Chr11:77198489 [GRCh38]
Chr11:76909534 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.219G>A (p.Leu73=) single nucleotide variant not provided [RCV001473551] Chr11:77147884 [GRCh38]
Chr11:76858930 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.909C>T (p.Ser303=) single nucleotide variant not provided [RCV001498455] Chr11:77158336 [GRCh38]
Chr11:76869382 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6081C>T (p.His2027=) single nucleotide variant not provided [RCV001458427] Chr11:77211181 [GRCh38]
Chr11:76922226 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1824C>T (p.Pro608=) single nucleotide variant not provided [RCV001496048] Chr11:77172774 [GRCh38]
Chr11:76883820 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4575C>T (p.Cys1525=) single nucleotide variant not provided [RCV001486474] Chr11:77199541 [GRCh38]
Chr11:76910586 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4170G>A (p.Glu1390=) single nucleotide variant not provided [RCV001470776] Chr11:77194371 [GRCh38]
Chr11:76905416 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1003+20G>A single nucleotide variant not provided [RCV001477158] Chr11:77158450 [GRCh38]
Chr11:76869496 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1791C>T (p.Val597=) single nucleotide variant not provided [RCV001498609] Chr11:77166156 [GRCh38]
Chr11:76877202 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.825C>T (p.Ala275=) single nucleotide variant not provided [RCV001496091] Chr11:77157368 [GRCh38]
Chr11:76868414 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6355-6T>C single nucleotide variant not provided [RCV001482155] Chr11:77212946 [GRCh38]
Chr11:76923991 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3627C>T (p.Val1209=) single nucleotide variant not provided [RCV001503324] Chr11:77189467 [GRCh38]
Chr11:76900512 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.126A>G (p.Glu42=) single nucleotide variant not provided [RCV001504836] Chr11:77142816 [GRCh38]
Chr11:76853862 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1443C>T (p.Ser481=) single nucleotide variant not provided [RCV001484795] Chr11:77162219 [GRCh38]
Chr11:76873265 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4656G>A (p.Gly1552=) single nucleotide variant not provided [RCV001468721] Chr11:77199622 [GRCh38]
Chr11:76910667 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.381T>C (p.Ile127=) single nucleotide variant not provided [RCV001471265] Chr11:77156002 [GRCh38]
Chr11:76867048 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4353C>G (p.Ala1451=) single nucleotide variant not provided [RCV001474319] Chr11:77197510 [GRCh38]
Chr11:76908555 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2448C>T (p.Arg816=) single nucleotide variant not provided [RCV001461259] Chr11:77179815 [GRCh38]
Chr11:76890861 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1717del (p.Leu573fs) deletion not provided [RCV001391055] Chr11:77166080 [GRCh38]
Chr11:76877126 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3564_3570del (p.Ser1187_Tyr1188insTer) deletion not provided [RCV001391056] Chr11:77189404..77189410 [GRCh38]
Chr11:76900449..76900455 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4671T>C (p.Cys1557=) single nucleotide variant not provided [RCV001442868] Chr11:77199637 [GRCh38]
Chr11:76910682 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.345G>A (p.Ser115=) single nucleotide variant Usher syndrome type 1B [RCV001832603]|not provided [RCV001464528] Chr11:77155966 [GRCh38]
Chr11:76867012 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3925-4A>G single nucleotide variant not provided [RCV001471341] Chr11:77192047 [GRCh38]
Chr11:76903092 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6317A>C (p.Lys2106Thr) single nucleotide variant not provided [RCV001870714] Chr11:77211900 [GRCh38]
Chr11:76922945 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1947G>A (p.Arg649=) single nucleotide variant not provided [RCV001477490] Chr11:77174767 [GRCh38]
Chr11:76885813 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3042G>C (p.Thr1014=) single nucleotide variant not provided [RCV001497768] Chr11:77182088 [GRCh38]
Chr11:76893134 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2388G>A (p.Arg796=) single nucleotide variant not provided [RCV001497769] Chr11:77179755 [GRCh38]
Chr11:76890801 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1788T>C (p.Asp596=) single nucleotide variant not provided [RCV001432008] Chr11:77166153 [GRCh38]
Chr11:76877199 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.840C>T (p.Tyr280=) single nucleotide variant not provided [RCV001498292] Chr11:77157383 [GRCh38]
Chr11:76868429 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.244T>C (p.Leu82=) single nucleotide variant not provided [RCV001484930] Chr11:77147909 [GRCh38]
Chr11:76858955 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1728C>T (p.Asp576=) single nucleotide variant not provided [RCV001399882] Chr11:77166093 [GRCh38]
Chr11:76877139 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4521_4522del (p.Leu1508fs) deletion not provided [RCV001385400] Chr11:77198574..77198575 [GRCh38]
Chr11:76909619..76909620 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4125C>T (p.Val1375=) single nucleotide variant not provided [RCV001401676] Chr11:77192251 [GRCh38]
Chr11:76903296 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1797+9G>A single nucleotide variant not provided [RCV001438235] Chr11:77166171 [GRCh38]
Chr11:76877217 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5997C>T (p.Thr1999=) single nucleotide variant not provided [RCV001404006] Chr11:77208749 [GRCh38]
Chr11:76919794 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2998A>C (p.Lys1000Gln) single nucleotide variant not provided [RCV001443168] Chr11:77182044 [GRCh38]
Chr11:76893090 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5906dup (p.Leu1969fs) duplication not provided [RCV001383683] Chr11:77208477..77208478 [GRCh38]
Chr11:76919522..76919523 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3750+9GT[2] microsatellite not provided [RCV001436643] Chr11:77190148..77190149 [GRCh38]
Chr11:76901193..76901194 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2283-20C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002506602]|not provided [RCV001513580] Chr11:77179025 [GRCh38]
Chr11:76890071 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_000260.4(MYO7A):c.5883C>T (p.Phe1961=) single nucleotide variant not provided [RCV001406747] Chr11:77208456 [GRCh38]
Chr11:76919501 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3503+1_3503+12delinsC indel not provided [RCV001378542] Chr11:77184716..77184727 [GRCh38]
Chr11:76895761..76895772 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6498C>T (p.Tyr2166=) single nucleotide variant not provided [RCV001483462] Chr11:77213919 [GRCh38]
Chr11:76924964 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6204T>C (p.Leu2068=) single nucleotide variant not provided [RCV001427689] Chr11:77211304 [GRCh38]
Chr11:76922349 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6052-7_6052-6del microsatellite not provided [RCV001427690] Chr11:77211142..77211143 [GRCh38]
Chr11:76922187..76922188 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2186del (p.Lys729fs) deletion not provided [RCV001389197] Chr11:77175462 [GRCh38]
Chr11:76886508 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3837G>A (p.Thr1279=) single nucleotide variant not provided [RCV001443616] Chr11:77190783 [GRCh38]
Chr11:76901828 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.19-7C>T single nucleotide variant not provided [RCV001480604] Chr11:77142702 [GRCh38]
Chr11:76853748 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1146G>A (p.Val382=) single nucleotide variant not provided [RCV001393323] Chr11:77160228 [GRCh38]
Chr11:76871274 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4442-8C>T single nucleotide variant not provided [RCV001503830] Chr11:77198487 [GRCh38]
Chr11:76909532 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3813C>G (p.Thr1271=) single nucleotide variant not provided [RCV001393278] Chr11:77190759 [GRCh38]
Chr11:76901804 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2655C>T (p.Ser885=) single nucleotide variant not provided [RCV001496834] Chr11:77180442 [GRCh38]
Chr11:76891488 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2196T>C (p.His732=) single nucleotide variant not provided [RCV001459294] Chr11:77177557 [GRCh38]
Chr11:76888603 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5958A>G (p.Ser1986=) single nucleotide variant not provided [RCV001496919] Chr11:77208710 [GRCh38]
Chr11:76919755 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1812G>A (p.Arg604=) single nucleotide variant not provided [RCV001418217] Chr11:77172762 [GRCh38]
Chr11:76883808 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6051+9C>T single nucleotide variant not provided [RCV001485312] Chr11:77208812 [GRCh38]
Chr11:76919857 [GRCh37]
Chr11:11q13.5
likely benign
NC_000011.9:g.(?_76866933)_(76908663_?)dup duplication not provided [RCV001378673] Chr11:76866933..76908663 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3745C>T (p.Leu1249=) single nucleotide variant not provided [RCV001425784] Chr11:77190134 [GRCh38]
Chr11:76901179 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.3876T>C (p.Ser1292=) single nucleotide variant not provided [RCV001425857] Chr11:77190822 [GRCh38]
Chr11:76901867 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5044-2A>G single nucleotide variant not provided [RCV001377185] Chr11:77202298 [GRCh38]
Chr11:76913343 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1521C>T (p.Ile507=) single nucleotide variant not provided [RCV001503998] Chr11:77162297 [GRCh38]
Chr11:76873343 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1134C>T (p.Arg378=) single nucleotide variant not provided [RCV001398586] Chr11:77160216 [GRCh38]
Chr11:76871262 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.132+10C>G single nucleotide variant not provided [RCV001404824] Chr11:77142832 [GRCh38]
Chr11:76853878 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5326+7G>A single nucleotide variant not provided [RCV001443980] Chr11:77203224 [GRCh38]
Chr11:76914269 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6051+8C>T single nucleotide variant not provided [RCV001499473] Chr11:77208811 [GRCh38]
Chr11:76919856 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2688G>A (p.Lys896=) single nucleotide variant Usher syndrome type 1B [RCV001826279]|not provided [RCV001454832] Chr11:77180475 [GRCh38]
Chr11:76891521 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3663C>T (p.Pro1221=) single nucleotide variant not provided [RCV001454856] Chr11:77190052 [GRCh38]
Chr11:76901097 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5379C>T (p.Asn1793=) single nucleotide variant not provided [RCV001480936] Chr11:77204128 [GRCh38]
Chr11:76915173 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3108+10G>T single nucleotide variant not provided [RCV001485412] Chr11:77182164 [GRCh38]
Chr11:76893210 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1081-4C>A single nucleotide variant not provided [RCV001424469] Chr11:77160159 [GRCh38]
Chr11:76871205 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.549G>C (p.Ser183=) single nucleotide variant not provided [RCV001401158] Chr11:77156738 [GRCh38]
Chr11:76867784 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1413G>A (p.Lys471=) single nucleotide variant not provided [RCV001494566] Chr11:77162189 [GRCh38]
Chr11:76873235 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1566C>G (p.Thr522=) single nucleotide variant not provided [RCV001481061] Chr11:77162864 [GRCh38]
Chr11:76873910 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4101C>T (p.Ile1367=) single nucleotide variant not provided [RCV001400929] Chr11:77192227 [GRCh38]
Chr11:76903272 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5169-2A>G single nucleotide variant not provided [RCV001379548] Chr11:77203058 [GRCh38]
Chr11:76914103 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4281G>T (p.Thr1427=) single nucleotide variant not provided [RCV001472174] Chr11:77194482 [GRCh38]
Chr11:76905527 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1872G>T (p.Thr624=) single nucleotide variant not provided [RCV001416460] Chr11:77172822 [GRCh38]
Chr11:76883868 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5064C>T (p.Pro1688=) single nucleotide variant not provided [RCV001437400] Chr11:77202320 [GRCh38]
Chr11:76913365 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6210G>C (p.Arg2070=) single nucleotide variant not provided [RCV001402471] Chr11:77211310 [GRCh38]
Chr11:76922355 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2898C>T (p.Gly966=) single nucleotide variant not provided [RCV001428147] Chr11:77181583 [GRCh38]
Chr11:76892629 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6558+8C>T single nucleotide variant not provided [RCV001456565] Chr11:77213987 [GRCh38]
Chr11:76925032 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5556C>T (p.Pro1852=) single nucleotide variant not provided [RCV001457941] Chr11:77205537 [GRCh38]
Chr11:76916582 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1050A>G (p.Pro350=) single nucleotide variant not provided [RCV001465191] Chr11:77159493 [GRCh38]
Chr11:76870539 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1003+1G>A single nucleotide variant Usher syndrome type 1B [RCV001831399]|not provided [RCV001387798] Chr11:77158431 [GRCh38]
Chr11:76869477 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1846C>A (p.Arg616=) single nucleotide variant not provided [RCV001497457] Chr11:77172796 [GRCh38]
Chr11:76883842 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3948T>C (p.Ser1316=) single nucleotide variant not provided [RCV001504385] Chr11:77192074 [GRCh38]
Chr11:76903119 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met) single nucleotide variant Usher syndrome type 1 [RCV003148992]|not provided [RCV001756264] Chr11:77182560 [GRCh38]
Chr11:76893605 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1004-17C>G single nucleotide variant not provided [RCV003108988] Chr11:77159430 [GRCh38]
Chr11:76870476 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4827G>A (p.Val1609=) single nucleotide variant Sensorineural hearing loss disorder [RCV002244298] Chr11:77199793 [GRCh38]
Chr11:76910838 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5938A>G (p.Lys1980Glu) single nucleotide variant not provided [RCV001755204] Chr11:77208511 [GRCh38]
Chr11:76919556 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6372C>T (p.Asn2124=) single nucleotide variant not provided [RCV003109164] Chr11:77212969 [GRCh38]
Chr11:76924014 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6276C>T (p.Ser2092=) single nucleotide variant not provided [RCV001726852] Chr11:77211859 [GRCh38]
Chr11:76922904 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1297A>G (p.Ile433Val) single nucleotide variant not provided [RCV003108391] Chr11:77161069 [GRCh38]
Chr11:76872115 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1804del (p.Glu602fs) deletion Usher syndrome type 1 [RCV002251273] Chr11:77172754 [GRCh38]
Chr11:76883800 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6041A>G (p.His2014Arg) single nucleotide variant not provided [RCV001756574] Chr11:77208793 [GRCh38]
Chr11:76919838 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter) single nucleotide variant Usher syndrome type 1 [RCV002245268] Chr11:77194408 [GRCh38]
Chr11:76905453 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6238-1G>C single nucleotide variant Usher syndrome type 1 [RCV002245497] Chr11:77211820 [GRCh38]
Chr11:76922865 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.736-2A>T single nucleotide variant not provided [RCV001784700] Chr11:77157277 [GRCh38]
Chr11:76868323 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.983T>C (p.Leu328Pro) single nucleotide variant not provided [RCV001763495] Chr11:77158410 [GRCh38]
Chr11:76869456 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1408T>A (p.Phe470Ile) single nucleotide variant not provided [RCV001756901] Chr11:77162184 [GRCh38]
Chr11:76873230 [GRCh37]
Chr11:11q13.5
uncertain significance
NC_000011.9:g.(?_76922177)_(76925741_?)del deletion not provided [RCV003109251] Chr11:76922177..76925741 [GRCh37]
Chr11:11q13.5
pathogenic
NC_000011.9:g.(?_76867696)_(76868060_?)dup duplication not provided [RCV003109252] Chr11:76867696..76868060 [GRCh37]
Chr11:11q13.5
likely pathogenic
NC_000011.9:g.(?_76909274)_(76910667_?)del deletion not provided [RCV003109253] Chr11:76909274..76910667 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5559C>A (p.His1853Gln) single nucleotide variant not provided [RCV001763348] Chr11:77205540 [GRCh38]
Chr11:76916585 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4323+2T>C single nucleotide variant not provided [RCV001784701] Chr11:77194526 [GRCh38]
Chr11:76905571 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1906A>G (p.Ile636Val) single nucleotide variant not provided [RCV002259447] Chr11:77172856 [GRCh38]
Chr11:76883902 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002225142]|not provided [RCV001761196] Chr11:77181961 [GRCh38]
Chr11:76893007 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.506A>G (p.Lys169Arg) single nucleotide variant not provided [RCV001766980] Chr11:77156695 [GRCh38]
Chr11:76867741 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4237G>A (p.Val1413Met) single nucleotide variant Inborn genetic diseases [RCV002540502]|not provided [RCV001763991] Chr11:77194438 [GRCh38]
Chr11:76905483 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2501G>T (p.Arg834Leu) single nucleotide variant not provided [RCV001760917] Chr11:77179868 [GRCh38]
Chr11:76890914 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3503+95C>G single nucleotide variant not provided [RCV003237480] Chr11:77184810 [GRCh38]
Chr11:76895855 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4658C>A (p.Pro1553His) single nucleotide variant not provided [RCV001767287] Chr11:77199624 [GRCh38]
Chr11:76910669 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6562dup (p.Tyr2188fs) duplication not provided [RCV001770637] Chr11:77214609..77214610 [GRCh38]
Chr11:76925654..76925655 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5600C>A (p.Ala1867Asp) single nucleotide variant not provided [RCV001772665] Chr11:77205581 [GRCh38]
Chr11:76916626 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5565del (p.Gln1855fs) deletion not provided [RCV001782489] Chr11:77205546 [GRCh38]
Chr11:76916591 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2087A>G (p.Tyr696Cys) single nucleotide variant not provided [RCV001771362] Chr11:77174907 [GRCh38]
Chr11:76885953 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3140G>A (p.Arg1047His) single nucleotide variant not provided [RCV001773352] Chr11:77182455 [GRCh38]
Chr11:76893500 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1121C>A (p.Thr374Asn) single nucleotide variant not provided [RCV001765319] Chr11:77160203 [GRCh38]
Chr11:76871249 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.785T>A (p.Met262Lys) single nucleotide variant not provided [RCV001771605] Chr11:77157328 [GRCh38]
Chr11:76868374 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4158C>A (p.Asp1386Glu) single nucleotide variant not provided [RCV001763787] Chr11:77194359 [GRCh38]
Chr11:76905404 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.914T>C (p.Met305Thr) single nucleotide variant not provided [RCV001767668] Chr11:77158341 [GRCh38]
Chr11:76869387 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2542C>G (p.Arg848Gly) single nucleotide variant not provided [RCV001764003] Chr11:77179909 [GRCh38]
Chr11:76890955 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4462G>C (p.Asp1488His) single nucleotide variant not provided [RCV001764055] Chr11:77198515 [GRCh38]
Chr11:76909560 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.282C>G (p.Ile94Met) single nucleotide variant not provided [RCV001767886] Chr11:77147947 [GRCh38]
Chr11:76858993 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3514T>A (p.Tyr1172Asn) single nucleotide variant not provided [RCV001774571] Chr11:77189354 [GRCh38]
Chr11:76900399 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2432G>A (p.Arg811His) single nucleotide variant not provided [RCV001773085] Chr11:77179799 [GRCh38]
Chr11:76890845 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3670G>A (p.Ala1224Thr) single nucleotide variant not provided [RCV001768648] Chr11:77190059 [GRCh38]
Chr11:76901104 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_000260.4(MYO7A):c.2813A>G (p.Asn938Ser) single nucleotide variant not provided [RCV001767650] Chr11:77181498 [GRCh38]
Chr11:76892544 [GRCh37]
Chr11:11q13.5
uncertain significance
NC_000011.10:g.77215329C>T single nucleotide variant not provided [RCV001786301] Chr11:77215329 [GRCh38]
Chr11:76926374 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2731C>T (p.Arg911Trp) single nucleotide variant not provided [RCV001769090] Chr11:77181416 [GRCh38]
Chr11:76892462 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.119A>G (p.Asp40Gly) single nucleotide variant not provided [RCV001767885] Chr11:77142809 [GRCh38]
Chr11:76853855 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5692A>C (p.Lys1898Gln) single nucleotide variant not provided [RCV001773416] Chr11:77206152 [GRCh38]
Chr11:76917197 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2101C>T (p.Leu701Phe) single nucleotide variant not provided [RCV001752016] Chr11:77175378 [GRCh38]
Chr11:76886424 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1400G>A (p.Arg467Gln) single nucleotide variant not provided [RCV001764940] Chr11:77162176 [GRCh38]
Chr11:76873222 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2102T>A (p.Leu701His) single nucleotide variant not provided [RCV001774151] Chr11:77175379 [GRCh38]
Chr11:76886425 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.202G>A (p.Glu68Lys) single nucleotide variant not provided [RCV001752227] Chr11:77147867 [GRCh38]
Chr11:76858913 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1729A>G (p.Ile577Val) single nucleotide variant not provided [RCV001770616] Chr11:77166094 [GRCh38]
Chr11:76877140 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4388G>A (p.Arg1463His) single nucleotide variant not provided [RCV001794672] Chr11:77197545 [GRCh38]
Chr11:76908590 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.64G>A (p.Val22Met) single nucleotide variant Inborn genetic diseases [RCV002539163]|not provided [RCV001774368] Chr11:77142754 [GRCh38]
Chr11:76853800 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3475G>A (p.Gly1159Ser) single nucleotide variant not provided [RCV001770787] Chr11:77184687 [GRCh38]
Chr11:76895732 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.262C>T (p.Arg88Cys) single nucleotide variant not provided [RCV001758195] Chr11:77147927 [GRCh38]
Chr11:76858973 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2558_2566delinsACAGGCTGA (p.Arg853_His856delinsHisArgLeuAsn) indel not provided [RCV001769093] Chr11:77179925..77179933 [GRCh38]
Chr11:76890971..76890979 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4696A>T (p.Thr1566Ser) single nucleotide variant Inborn genetic diseases [RCV002538726]|not provided [RCV001754065] Chr11:77199662 [GRCh38]
Chr11:76910707 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1186G>C (p.Asp396His) single nucleotide variant not provided [RCV001766888] Chr11:77160268 [GRCh38]
Chr11:76871314 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5737G>A (p.Asp1913Asn) single nucleotide variant not provided [RCV001765881] Chr11:77206197 [GRCh38]
Chr11:76917242 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2474G>A (p.Arg825His) single nucleotide variant not provided [RCV001766041] Chr11:77179841 [GRCh38]
Chr11:76890887 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1539G>C (p.Glu513Asp) single nucleotide variant not provided [RCV001771207] Chr11:77162315 [GRCh38]
Chr11:76873361 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5329G>A (p.Val1777Met) single nucleotide variant not provided [RCV001771401] Chr11:77204078 [GRCh38]
Chr11:76915123 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1622C>G (p.Pro541Arg) single nucleotide variant not provided [RCV001763706] Chr11:77162920 [GRCh38]
Chr11:76873966 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1369G>A (p.Ala457Thr) single nucleotide variant not provided [RCV001761463] Chr11:77162145 [GRCh38]
Chr11:76873191 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3706G>C (p.Val1236Leu) single nucleotide variant not provided [RCV001761460] Chr11:77190095 [GRCh38]
Chr11:76901140 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3607G>A (p.Ala1203Thr) single nucleotide variant not provided [RCV001732913] Chr11:77189447 [GRCh38]
Chr11:76900492 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter) single nucleotide variant not provided [RCV001784703] Chr11:77179936 [GRCh38]
Chr11:76890982 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1879G>A (p.Ala627Thr) single nucleotide variant not provided [RCV001786611] Chr11:77172829 [GRCh38]
Chr11:76883875 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6269G>C (p.Gly2090Ala) single nucleotide variant not provided [RCV001758326] Chr11:77211852 [GRCh38]
Chr11:76922897 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5251C>A (p.Pro1751Thr) single nucleotide variant not provided [RCV001756902] Chr11:77203142 [GRCh38]
Chr11:76914187 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4909C>T (p.His1637Tyr) single nucleotide variant not provided [RCV001756821] Chr11:77201504 [GRCh38]
Chr11:76912549 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6016G>A (p.Asp2006Asn) single nucleotide variant not provided [RCV001758435] Chr11:77208768 [GRCh38]
Chr11:76919813 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6028G>T (p.Asp2010Tyr) single nucleotide variant Ear malformation [RCV001814338] Chr11:77208780 [GRCh38]
Chr11:76919825 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs) deletion Usher syndrome type 1 [RCV001808270]|not provided [RCV001885288] Chr11:77212972 [GRCh38]
Chr11:76924017 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4297C>T (p.Gln1433Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001809335] Chr11:77194498 [GRCh38]
Chr11:76905543 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001808253]|not provided [RCV002541470] Chr11:77179924 [GRCh38]
Chr11:76890970 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001807902]|Usher syndrome type 1 [RCV001807903]|not provided [RCV001885285]|not specified [RCV003235600] Chr11:77180470 [GRCh38]
Chr11:76891516 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.5567del (p.Arg1856fs) deletion Ear malformation [RCV001814468] Chr11:77205548 [GRCh38]
Chr11:76916593 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6229dup (p.Trp2077fs) duplication Usher syndrome type 1 [RCV001809336] Chr11:77211328..77211329 [GRCh38]
Chr11:76922373..76922374 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5135A>G (p.Tyr1712Cys) single nucleotide variant not provided [RCV001950354] Chr11:77202391 [GRCh38]
Chr11:76913436 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3998del (p.Gln1333fs) deletion not provided [RCV001969741] Chr11:77192124 [GRCh38]
Chr11:76903169 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5312G>C (p.Cys1771Ser) single nucleotide variant not provided [RCV001895742] Chr11:77203203 [GRCh38]
Chr11:76914248 [GRCh37]
Chr11:11q13.5
uncertain significance
NC_000011.9:g.(?_76841681)_(76841718_?)del deletion not provided [RCV001930072] Chr11:76841681..76841718 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6418C>G (p.Leu2140Val) single nucleotide variant Inborn genetic diseases [RCV003264242]|not provided [RCV001913626] Chr11:77213015 [GRCh38]
Chr11:76924060 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1946G>A (p.Arg649Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001822966] Chr11:77174766 [GRCh38]
Chr11:76885812 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6491del (p.Asn2164fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV001823216] Chr11:77213911 [GRCh38]
Chr11:76924956 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4055C>T (p.Thr1352Met) single nucleotide variant Inborn genetic diseases [RCV002562011]|not provided [RCV001950191] Chr11:77192181 [GRCh38]
Chr11:76903226 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5481-6del deletion not provided [RCV001988606] Chr11:77205455 [GRCh38]
Chr11:76916500 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001822967]|Usher syndrome [RCV003389494] Chr11:77192264 [GRCh38]
Chr11:76903309 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.6249C>G (p.Ala2083=) single nucleotide variant not provided [RCV001988289] Chr11:77211832 [GRCh38]
Chr11:76922877 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1817G>C (p.Arg606Pro) single nucleotide variant not provided [RCV001987668] Chr11:77172767 [GRCh38]
Chr11:76883813 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2131dup (p.Ala711fs) duplication not provided [RCV001874846] Chr11:77175406..77175407 [GRCh38]
Chr11:76886452..76886453 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1532A>G (p.Asp511Gly) single nucleotide variant not provided [RCV002045489] Chr11:77162308 [GRCh38]
Chr11:76873354 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6083A>C (p.Lys2028Thr) single nucleotide variant not provided [RCV001988657] Chr11:77211183 [GRCh38]
Chr11:76922228 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.868G>T (p.Glu290Ter) single nucleotide variant not provided [RCV001874901] Chr11:77158295 [GRCh38]
Chr11:76869341 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6232A>T (p.Lys2078Ter) single nucleotide variant not provided [RCV001970014] Chr11:77211332 [GRCh38]
Chr11:76922377 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5210A>G (p.Lys1737Arg) single nucleotide variant not provided [RCV001874154] Chr11:77203101 [GRCh38]
Chr11:76914146 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3981G>C (p.Glu1327Asp) single nucleotide variant not provided [RCV002008942] Chr11:77192107 [GRCh38]
Chr11:76903152 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5480+1G>A single nucleotide variant not provided [RCV001985961] Chr11:77204230 [GRCh38]
Chr11:76915275 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2719G>A (p.Glu907Lys) single nucleotide variant not provided [RCV001947968] Chr11:77181404 [GRCh38]
Chr11:76892450 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1081-3C>A single nucleotide variant not provided [RCV001914443] Chr11:77160160 [GRCh38]
Chr11:76871206 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6547G>A (p.Glu2183Lys) single nucleotide variant Inborn genetic diseases [RCV002563402]|not provided [RCV001968050] Chr11:77213968 [GRCh38]
Chr11:76925013 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2699G>A (p.Arg900His) single nucleotide variant not provided [RCV001913970] Chr11:77181384 [GRCh38]
Chr11:76892430 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs) deletion not provided [RCV001908634] Chr11:77190774 [GRCh38]
Chr11:76901819 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4324-1G>A single nucleotide variant not provided [RCV002007950] Chr11:77197480 [GRCh38]
Chr11:76908525 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3280G>A (p.Gly1094Ser) single nucleotide variant not provided [RCV001971151] Chr11:77182595 [GRCh38]
Chr11:76893640 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2348G>C (p.Cys783Ser) single nucleotide variant not provided [RCV001914653] Chr11:77179110 [GRCh38]
Chr11:76890156 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2036T>C (p.Val679Ala) single nucleotide variant not provided [RCV001946001] Chr11:77174856 [GRCh38]
Chr11:76885902 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2890C>T (p.Pro964Ser) single nucleotide variant not provided [RCV001914172] Chr11:77181575 [GRCh38]
Chr11:76892621 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5315T>G (p.Leu1772Arg) single nucleotide variant not provided [RCV001970948] Chr11:77203206 [GRCh38]
Chr11:76914251 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4249A>C (p.Ile1417Leu) single nucleotide variant not provided [RCV001927847] Chr11:77194450 [GRCh38]
Chr11:76905495 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3925-1G>T single nucleotide variant not provided [RCV002008102] Chr11:77192050 [GRCh38]
Chr11:76903095 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3503+16C>T single nucleotide variant not provided [RCV001965698] Chr11:77184731 [GRCh38]
Chr11:76895776 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1080+1G>A single nucleotide variant not provided [RCV001982843] Chr11:77159524 [GRCh38]
Chr11:76870570 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2997T>A (p.Tyr999Ter) single nucleotide variant not provided [RCV002007393] Chr11:77182043 [GRCh38]
Chr11:76893089 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2348G>T (p.Cys783Phe) single nucleotide variant not provided [RCV002023972] Chr11:77179110 [GRCh38]
Chr11:76890156 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4312G>A (p.Ala1438Thr) single nucleotide variant not provided [RCV001984646] Chr11:77194513 [GRCh38]
Chr11:76905558 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3769C>A (p.Pro1257Thr) single nucleotide variant not provided [RCV001947556] Chr11:77190715 [GRCh38]
Chr11:76901760 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2501G>A (p.Arg834His) single nucleotide variant not provided [RCV001912853] Chr11:77179868 [GRCh38]
Chr11:76890914 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.214C>T (p.Arg72Cys) single nucleotide variant not provided [RCV001894214] Chr11:77147879 [GRCh38]
Chr11:76858925 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001822906]|Usher syndrome type 1 [RCV002307752]|not provided [RCV001882614] Chr11:77201567 [GRCh38]
Chr11:76912612 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.5221A>G (p.Lys1741Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV001823549] Chr11:77203112 [GRCh38]
Chr11:76914157 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2573G>T (p.Arg858Leu) single nucleotide variant not provided [RCV002039444] Chr11:77179940 [GRCh38]
Chr11:76890986 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5194C>T (p.Arg1732Cys) single nucleotide variant not provided [RCV001912896] Chr11:77203085 [GRCh38]
Chr11:76914130 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2114G>A (p.Cys705Tyr) single nucleotide variant not provided [RCV002041887] Chr11:77175391 [GRCh38]
Chr11:76886437 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5742+7del deletion not provided [RCV002004267] Chr11:77206207 [GRCh38]
Chr11:76917252 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5738A>G (p.Asp1913Gly) single nucleotide variant not provided [RCV002020828] Chr11:77206198 [GRCh38]
Chr11:76917243 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.699G>T (p.Glu233Asp) single nucleotide variant not provided [RCV001966671] Chr11:77156968 [GRCh38]
Chr11:76868014 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4976G>A (p.Arg1659His) single nucleotide variant not provided [RCV001945532] Chr11:77201571 [GRCh38]
Chr11:76912616 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6559-3C>T single nucleotide variant not provided [RCV001889858] Chr11:77214604 [GRCh38]
Chr11:76925649 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2786T>A (p.Met929Lys) single nucleotide variant not provided [RCV001891040] Chr11:77181471 [GRCh38]
Chr11:76892517 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4808A>G (p.Lys1603Arg) single nucleotide variant not provided [RCV001908729] Chr11:77199774 [GRCh38]
Chr11:76910819 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3542A>C (p.His1181Pro) single nucleotide variant not provided [RCV002041411] Chr11:77189382 [GRCh38]
Chr11:76900427 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2154C>G (p.Asp718Glu) single nucleotide variant not provided [RCV001983997] Chr11:77175431 [GRCh38]
Chr11:76886477 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5209A>G (p.Lys1737Glu) single nucleotide variant not provided [RCV002042870] Chr11:77203100 [GRCh38]
Chr11:76914145 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6237+6C>T single nucleotide variant not provided [RCV001948772] Chr11:77211343 [GRCh38]
Chr11:76922388 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3108+1G>A single nucleotide variant not provided [RCV002041288] Chr11:77182155 [GRCh38]
Chr11:76893201 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3171C>G (p.Tyr1057Ter) single nucleotide variant not provided [RCV001946624] Chr11:77182486 [GRCh38]
Chr11:76893531 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002492060]|not provided [RCV001987525] Chr11:77203143 [GRCh38]
Chr11:76914188 [GRCh37]
Chr11:11q13.5
uncertain significance
NC_000011.9:g.(?_76858824)_(76869496_?)del deletion not provided [RCV001949403] Chr11:76858824..76869496 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter) single nucleotide variant Usher syndrome type 1 [RCV002307784]|not provided [RCV001891031] Chr11:77157339 [GRCh38]
Chr11:76868385 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6628G>C (p.Gly2210Arg) single nucleotide variant not provided [RCV001947803] Chr11:77214676 [GRCh38]
Chr11:76925721 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4837G>A (p.Asp1613Asn) single nucleotide variant not provided [RCV001986577] Chr11:77199803 [GRCh38]
Chr11:76910848 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.575C>G (p.Ala192Gly) single nucleotide variant not provided [RCV001909947] Chr11:77156764 [GRCh38]
Chr11:76867810 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2855C>T (p.Thr952Ile) single nucleotide variant not provided [RCV001948497] Chr11:77181540 [GRCh38]
Chr11:76892586 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6625C>T (p.Arg2209Trp) single nucleotide variant not provided [RCV002004857] Chr11:77214673 [GRCh38]
Chr11:76925718 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5725C>G (p.Pro1909Ala) single nucleotide variant not provided [RCV001927869] Chr11:77206185 [GRCh38]
Chr11:76917230 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3503+6T>C single nucleotide variant not provided [RCV001913684] Chr11:77184721 [GRCh38]
Chr11:76895766 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1936-2A>T single nucleotide variant not provided [RCV002044007] Chr11:77174754 [GRCh38]
Chr11:76885800 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1541G>C (p.Ser514Thr) single nucleotide variant not provided [RCV001914056] Chr11:77162317 [GRCh38]
Chr11:76873363 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.310G>A (p.Ala104Thr) single nucleotide variant not provided [RCV002024461] Chr11:77155931 [GRCh38]
Chr11:76866977 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6208C>T (p.Arg2070Trp) single nucleotide variant not provided [RCV001910622] Chr11:77211308 [GRCh38]
Chr11:76922353 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1625A>G (p.Lys542Arg) single nucleotide variant not provided [RCV002021075] Chr11:77162923 [GRCh38]
Chr11:76873969 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.133-18_133-17insTCCCCGCAGT insertion not provided [RCV001945831] Chr11:77147780..77147781 [GRCh38]
Chr11:76858826..76858827 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5043G>A (p.Val1681=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001822943] Chr11:77201638 [GRCh38]
Chr11:76912683 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4441+3A>C single nucleotide variant not provided [RCV001970326] Chr11:77197601 [GRCh38]
Chr11:76908646 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2309C>T (p.Ala770Val) single nucleotide variant not provided [RCV001889989] Chr11:77179071 [GRCh38]
Chr11:76890117 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5462T>G (p.Leu1821Arg) single nucleotide variant not provided [RCV001872323] Chr11:77204211 [GRCh38]
Chr11:76915256 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3891C>G (p.Phe1297Leu) single nucleotide variant not provided [RCV001968537] Chr11:77190837 [GRCh38]
Chr11:76901882 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.682G>A (p.Glu228Lys) single nucleotide variant not provided [RCV002006948] Chr11:77156951 [GRCh38]
Chr11:76867997 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6399C>G (p.Ile2133Met) single nucleotide variant not provided [RCV001967013] Chr11:77212996 [GRCh38]
Chr11:76924041 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2367+1G>A single nucleotide variant not provided [RCV001968016] Chr11:77179130 [GRCh38]
Chr11:76890176 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5873A>G (p.Glu1958Gly) single nucleotide variant not provided [RCV001969300] Chr11:77208446 [GRCh38]
Chr11:76919491 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001822952]|Usher syndrome [RCV003389493]|Usher syndrome type 1 [RCV002290719] Chr11:77162977 [GRCh38]
Chr11:76874023 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.6545G>C (p.Cys2182Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV001822944] Chr11:77213966 [GRCh38]
Chr11:76925011 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6439-3C>T single nucleotide variant not provided [RCV001910555] Chr11:77213857 [GRCh38]
Chr11:76924902 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.851G>T (p.Gly284Val) single nucleotide variant not provided [RCV001984638] Chr11:77158278 [GRCh38]
Chr11:76869324 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1081-3C>T single nucleotide variant not provided [RCV001965513] Chr11:77160160 [GRCh38]
Chr11:76871206 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6505A>G (p.Ile2169Val) single nucleotide variant not provided [RCV002043467] Chr11:77213926 [GRCh38]
Chr11:76924971 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4340G>A (p.Arg1447Lys) single nucleotide variant MYO7A-related condition [RCV003401996]|not provided [RCV002005442] Chr11:77197497 [GRCh38]
Chr11:76908542 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4912G>T (p.Asp1638Tyr) single nucleotide variant not provided [RCV001968759] Chr11:77201507 [GRCh38]
Chr11:76912552 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.208A>G (p.Met70Val) single nucleotide variant not provided [RCV001927768] Chr11:77147873 [GRCh38]
Chr11:76858919 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.133-7C>G single nucleotide variant not provided [RCV002022728] Chr11:77147791 [GRCh38]
Chr11:76858837 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3304C>T (p.Gln1102Ter) single nucleotide variant not provided [RCV001911040] Chr11:77183086 [GRCh38]
Chr11:76894131 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4280C>G (p.Thr1427Arg) single nucleotide variant not provided [RCV001984499] Chr11:77194481 [GRCh38]
Chr11:76905526 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1918G>T (p.Glu640Ter) single nucleotide variant not provided [RCV001910678] Chr11:77172868 [GRCh38]
Chr11:76883914 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2698C>T (p.Arg900Cys) single nucleotide variant not provided [RCV001909916] Chr11:77181383 [GRCh38]
Chr11:76892429 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2940G>T (p.Glu980Asp) single nucleotide variant not provided [RCV002002071] Chr11:77181986 [GRCh38]
Chr11:76893032 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3589C>G (p.Leu1197Val) single nucleotide variant not provided [RCV001908205] Chr11:77189429 [GRCh38]
Chr11:76900474 [GRCh37]
Chr11:11q13.5
uncertain significance
NC_000011.10:g.77215295A>G single nucleotide variant not provided [RCV001840928] Chr11:77215295 [GRCh38]
Chr11:76926340 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6043T>C (p.Tyr2015His) single nucleotide variant not provided [RCV001984277] Chr11:77208795 [GRCh38]
Chr11:76919840 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6325A>C (p.Thr2109Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV002051751] Chr11:77211908 [GRCh38]
Chr11:76922953 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1091dup (p.Asp365fs) duplication Autosomal recessive nonsyndromic hearing loss 2 [RCV001823235]|not provided [RCV002568954] Chr11:77160167..77160168 [GRCh38]
Chr11:76871213..76871214 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1765A>C (p.Ile589Leu) single nucleotide variant not provided [RCV001942676] Chr11:77166130 [GRCh38]
Chr11:76877176 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5374_5380dup (p.Glu1794fs) duplication not provided [RCV002037866] Chr11:77204122..77204123 [GRCh38]
Chr11:76915167..76915168 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5523G>A (p.Thr1841=) single nucleotide variant not provided [RCV001906736] Chr11:77205504 [GRCh38]
Chr11:76916549 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2219G>A (p.Arg740Gln) single nucleotide variant not provided [RCV002030916] Chr11:77177580 [GRCh38]
Chr11:76888626 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.338T>C (p.Ile113Thr) single nucleotide variant not provided [RCV002000406]|not specified [RCV003479383] Chr11:77155959 [GRCh38]
Chr11:76867005 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3665G>A (p.Gly1222Asp) single nucleotide variant not provided [RCV001888578] Chr11:77190054 [GRCh38]
Chr11:76901099 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4477G>A (p.Val1493Ile) single nucleotide variant not provided [RCV002104302] Chr11:77198530 [GRCh38]
Chr11:76909575 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6559-13C>G single nucleotide variant not provided [RCV001962497] Chr11:77214594 [GRCh38]
Chr11:76925639 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1829_1832dup (p.Ser611_Ser612insTer) duplication not provided [RCV001962515] Chr11:77172778..77172779 [GRCh38]
Chr11:76883824..76883825 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5072G>A (p.Arg1691Lys) single nucleotide variant not provided [RCV002011897] Chr11:77202328 [GRCh38]
Chr11:76913373 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4550T>A (p.Met1517Lys) single nucleotide variant not provided [RCV001887343] Chr11:77198603 [GRCh38]
Chr11:76909648 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2035dup (p.Val679fs) duplication not provided [RCV001941961] Chr11:77174854..77174855 [GRCh38]
Chr11:76885900..76885901 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.271G>T (p.Asp91Tyr) single nucleotide variant not provided [RCV001997910] Chr11:77147936 [GRCh38]
Chr11:76858982 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5480+2T>A single nucleotide variant not provided [RCV002018525] Chr11:77204231 [GRCh38]
Chr11:76915276 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3053C>G (p.Thr1018Ser) single nucleotide variant not provided [RCV001999654] Chr11:77182099 [GRCh38]
Chr11:76893145 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2709G>T (p.Gln903His) single nucleotide variant not provided [RCV002029850] Chr11:77181394 [GRCh38]
Chr11:76892440 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1359C>A (p.Cys453Ter) single nucleotide variant not provided [RCV001935423] Chr11:77162135 [GRCh38]
Chr11:76873181 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2945T>C (p.Leu982Pro) single nucleotide variant not provided [RCV001884171] Chr11:77181991 [GRCh38]
Chr11:76893037 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.358del (p.Arg120fs) deletion not provided [RCV002037731] Chr11:77155978 [GRCh38]
Chr11:76867024 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5480+2T>C single nucleotide variant not provided [RCV002000824] Chr11:77204231 [GRCh38]
Chr11:76915276 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5074C>T (p.Gln1692Ter) single nucleotide variant not provided [RCV001962973] Chr11:77202330 [GRCh38]
Chr11:76913375 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1506G>T (p.Lys502Asn) single nucleotide variant not provided [RCV002047168] Chr11:77162282 [GRCh38]
Chr11:76873328 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4943G>A (p.Trp1648Ter) single nucleotide variant not provided [RCV001941966] Chr11:77201538 [GRCh38]
Chr11:76912583 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1935+1G>A single nucleotide variant not provided [RCV002037800] Chr11:77172886 [GRCh38]
Chr11:76883932 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1025A>T (p.Asp342Val) single nucleotide variant not provided [RCV001888577] Chr11:77159468 [GRCh38]
Chr11:76870514 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2875C>T (p.Gln959Ter) single nucleotide variant not provided [RCV001905733] Chr11:77181560 [GRCh38]
Chr11:76892606 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2543G>A (p.Arg848Gln) single nucleotide variant not provided [RCV001962590] Chr11:77179910 [GRCh38]
Chr11:76890956 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1637A>G (p.Glu546Gly) single nucleotide variant not provided [RCV002051490] Chr11:77162935 [GRCh38]
Chr11:76873981 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2937G>C (p.Glu979Asp) single nucleotide variant not provided [RCV001963517] Chr11:77181983 [GRCh38]
Chr11:76893029 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4441+54_4441+55insACCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACA insertion not provided [RCV002039158] Chr11:77197583..77197584 [GRCh38]
Chr11:76908628..76908629 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1222G>A (p.Val408Met) single nucleotide variant not provided [RCV002039172] Chr11:77160994 [GRCh38]
Chr11:76872040 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2445G>T (p.Gln815His) single nucleotide variant not provided [RCV001937752] Chr11:77179812 [GRCh38]
Chr11:76890858 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.3285+7C>T single nucleotide variant not provided [RCV001924845] Chr11:77182607 [GRCh38]
Chr11:76893652 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2441G>A (p.Arg814His) single nucleotide variant not provided [RCV001886977] Chr11:77179808 [GRCh38]
Chr11:76890854 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1227G>A (p.Trp409Ter) single nucleotide variant not provided [RCV002037903] Chr11:77160999 [GRCh38]
Chr11:76872045 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.849+1G>C single nucleotide variant not provided [RCV002037905] Chr11:77157393 [GRCh38]
Chr11:76868439 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter) single nucleotide variant MYO7A-related condition [RCV003408007]|not provided [RCV002000060] Chr11:77179880 [GRCh38]
Chr11:76890926 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.905G>T (p.Arg302Leu) single nucleotide variant not provided [RCV001906188] Chr11:77158332 [GRCh38]
Chr11:76869378 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.111G>C (p.Gln37His) single nucleotide variant not provided [RCV002018664] Chr11:77142801 [GRCh38]
Chr11:76853847 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6223G>A (p.Asp2075Asn) single nucleotide variant not provided [RCV002036863] Chr11:77211323 [GRCh38]
Chr11:76922368 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6228_6232del (p.Asp2076fs) deletion not provided [RCV001942114] Chr11:77211326..77211330 [GRCh38]
Chr11:76922371..76922375 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2104C>T (p.Arg702Cys) single nucleotide variant not provided [RCV001925587] Chr11:77175381 [GRCh38]
Chr11:76886427 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5962A>G (p.Thr1988Ala) single nucleotide variant not provided [RCV002050329] Chr11:77208714 [GRCh38]
Chr11:76919759 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2815C>T (p.His939Tyr) single nucleotide variant not provided [RCV001887542] Chr11:77181500 [GRCh38]
Chr11:76892546 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3979G>C (p.Glu1327Gln) single nucleotide variant not provided [RCV002038400] Chr11:77192105 [GRCh38]
Chr11:76903150 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5533C>T (p.Pro1845Ser) single nucleotide variant not provided [RCV001941104] Chr11:77205514 [GRCh38]
Chr11:76916559 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4891_4892del (p.Asp1631fs) microsatellite not provided [RCV001942217] Chr11:77201484..77201485 [GRCh38]
Chr11:76912529..76912530 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6368del (p.Pro2123fs) deletion not provided [RCV001951565] Chr11:77212964 [GRCh38]
Chr11:76924009 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5921A>G (p.Lys1974Arg) single nucleotide variant not provided [RCV001917694] Chr11:77208494 [GRCh38]
Chr11:76919539 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.598G>T (p.Gly200Trp) single nucleotide variant not provided [RCV002015511] Chr11:77156867 [GRCh38]
Chr11:76867913 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4462G>A (p.Asp1488Asn) single nucleotide variant not provided [RCV002031461] Chr11:77198515 [GRCh38]
Chr11:76909560 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3803C>A (p.Thr1268Asn) single nucleotide variant not provided [RCV001996193] Chr11:77190749 [GRCh38]
Chr11:76901794 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6412del (p.Val2138fs) deletion not provided [RCV001932348] Chr11:77213006 [GRCh38]
Chr11:76924051 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.795_799dup (p.Lys267fs) duplication not provided [RCV002014484] Chr11:77157335..77157336 [GRCh38]
Chr11:76868381..76868382 [GRCh37]
Chr11:11q13.5
pathogenic
NC_000011.9:g.(?_76853735)_(76877228_?)del deletion not provided [RCV001975236] Chr11:76853735..76877228 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4031T>C (p.Leu1344Pro) single nucleotide variant not provided [RCV002015050] Chr11:77192157 [GRCh38]
Chr11:76903202 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.2164G>A (p.Gly722Ser) single nucleotide variant not provided [RCV002014577] Chr11:77175441 [GRCh38]
Chr11:76886487 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5576del (p.Gln1859fs) deletion not provided [RCV001955977] Chr11:77205557 [GRCh38]
Chr11:76916602 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1867C>T (p.Arg623Cys) single nucleotide variant not provided [RCV001995080] Chr11:77172817 [GRCh38]
Chr11:76883863 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5443G>A (p.Val1815Met) single nucleotide variant not provided [RCV001897022] Chr11:77204192 [GRCh38]
Chr11:76915237 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1059_1075del (p.Ala353_Thr354insTer) deletion not provided [RCV001950775] Chr11:77159500..77159516 [GRCh38]
Chr11:76870546..76870562 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5712_5713del (p.His1904fs) microsatellite not provided [RCV001880692] Chr11:77206170..77206171 [GRCh38]
Chr11:76917215..76917216 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3427C>G (p.Leu1143Val) single nucleotide variant not provided [RCV002010956] Chr11:77184639 [GRCh38]
Chr11:76895684 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5062C>T (p.Pro1688Ser) single nucleotide variant not provided [RCV001918407] Chr11:77202318 [GRCh38]
Chr11:76913363 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.283T>C (p.Tyr95His) single nucleotide variant not provided [RCV002026220] Chr11:77147948 [GRCh38]
Chr11:76858994 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2602G>A (p.Glu868Lys) single nucleotide variant not provided [RCV001867842] Chr11:77180389 [GRCh38]
Chr11:76891435 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.892T>A (p.Tyr298Asn) single nucleotide variant not provided [RCV002015891] Chr11:77158319 [GRCh38]
Chr11:76869365 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1323T>G (p.Phe441Leu) single nucleotide variant not provided [RCV001903448] Chr11:77161095 [GRCh38]
Chr11:76872141 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3202A>T (p.Ile1068Phe) single nucleotide variant not provided [RCV001937324] Chr11:77182517 [GRCh38]
Chr11:76893562 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4622C>T (p.Pro1541Leu) single nucleotide variant not provided [RCV001974736] Chr11:77199588 [GRCh38]
Chr11:76910633 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1114A>G (p.Ser372Gly) single nucleotide variant not provided [RCV002030423] Chr11:77160196 [GRCh38]
Chr11:76871242 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1798G>A (p.Gly600Ser) single nucleotide variant not provided [RCV002016606] Chr11:77172748 [GRCh38]
Chr11:76883794 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3230C>T (p.Thr1077Ile) single nucleotide variant not provided [RCV001972295] Chr11:77182545 [GRCh38]
Chr11:76893590 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6350del (p.Val2117fs) deletion not provided [RCV001953763] Chr11:77211933 [GRCh38]
Chr11:76922978 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6051+2T>C single nucleotide variant not provided [RCV001955084] Chr11:77208805 [GRCh38]
Chr11:76919850 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3688C>G (p.Arg1230Gly) single nucleotide variant not provided [RCV001930657] Chr11:77190077 [GRCh38]
Chr11:76901122 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2742G>A (p.Lys914=) single nucleotide variant not provided [RCV001972347] Chr11:77181427 [GRCh38]
Chr11:76892473 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2905-2A>C single nucleotide variant not provided [RCV002030536] Chr11:77181949 [GRCh38]
Chr11:76892995 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3750+13_3750+14insAATGCACGTGCTCGTGTG insertion not provided [RCV001881441] Chr11:77190146..77190147 [GRCh38]
Chr11:76901191..76901192 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4801C>G (p.Leu1601Val) single nucleotide variant not provided [RCV001995434] Chr11:77199767 [GRCh38]
Chr11:76910812 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5743-2A>G single nucleotide variant not provided [RCV001994308] Chr11:77207287 [GRCh38]
Chr11:76918332 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.592+5G>T single nucleotide variant not provided [RCV001978439] Chr11:77156786 [GRCh38]
Chr11:76867832 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4404G>C (p.Leu1468Phe) single nucleotide variant not provided [RCV001916304] Chr11:77197561 [GRCh38]
Chr11:76908606 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5557C>G (p.His1853Asp) single nucleotide variant not provided [RCV002029167] Chr11:77205538 [GRCh38]
Chr11:76916583 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2215G>C (p.Glu739Gln) single nucleotide variant not provided [RCV001877258] Chr11:77177576 [GRCh38]
Chr11:76888622 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2695-9A>G single nucleotide variant not provided [RCV001883727] Chr11:77181371 [GRCh38]
Chr11:76892417 [GRCh37]
Chr11:11q13.5
pathogenic|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.2661del (p.Lys888fs) deletion not provided [RCV002035492] Chr11:77180448 [GRCh38]
Chr11:76891494 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6326C>G (p.Thr2109Ser) single nucleotide variant not provided [RCV001926254] Chr11:77211909 [GRCh38]
Chr11:76922954 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1555-3C>T single nucleotide variant not provided [RCV002031742] Chr11:77162850 [GRCh38]
Chr11:76873896 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1073T>C (p.Leu358Pro) single nucleotide variant not provided [RCV001998222] Chr11:77159516 [GRCh38]
Chr11:76870562 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1933A>G (p.Met645Val) single nucleotide variant not provided [RCV001976692] Chr11:77172883 [GRCh38]
Chr11:76883929 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6521T>G (p.Leu2174Trp) single nucleotide variant not provided [RCV001867294] Chr11:77213942 [GRCh38]
Chr11:76924987 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.593-2A>G single nucleotide variant not provided [RCV002029559] Chr11:77156860 [GRCh38]
Chr11:76867906 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002490085]|not provided [RCV001883280] Chr11:77156758 [GRCh38]
Chr11:76867804 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3750+14T>C single nucleotide variant not provided [RCV001996481] Chr11:77190153 [GRCh38]
Chr11:76901198 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1615A>T (p.Ile539Phe) single nucleotide variant not provided [RCV001926228] Chr11:77162913 [GRCh38]
Chr11:76873959 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4746C>G (p.Phe1582Leu) single nucleotide variant not provided [RCV002019938] Chr11:77199712 [GRCh38]
Chr11:76910757 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.376A>T (p.Lys126Ter) single nucleotide variant not provided [RCV001900542] Chr11:77155997 [GRCh38]
Chr11:76867043 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2196T>A (p.His732Gln) single nucleotide variant not provided [RCV001951880] Chr11:77177557 [GRCh38]
Chr11:76888603 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.161C>G (p.Thr54Arg) single nucleotide variant not provided [RCV001899321] Chr11:77147826 [GRCh38]
Chr11:76858872 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3388C>T (p.Leu1130=) single nucleotide variant not provided [RCV001975482] Chr11:77184600 [GRCh38]
Chr11:76895645 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.149C>T (p.Pro50Leu) single nucleotide variant not provided [RCV001885771] Chr11:77147814 [GRCh38]
Chr11:76858860 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5040dup (p.Val1681fs) duplication not provided [RCV001936220] Chr11:77201633..77201634 [GRCh38]
Chr11:76912678..76912679 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2758C>T (p.Arg920Trp) single nucleotide variant not provided [RCV001952084] Chr11:77181443 [GRCh38]
Chr11:76892489 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.677C>T (p.Ala226Val) single nucleotide variant not provided [RCV001921654] Chr11:77156946 [GRCh38]
Chr11:76867992 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2080C>A (p.Pro694Thr) single nucleotide variant not provided [RCV002033077] Chr11:77174900 [GRCh38]
Chr11:76885946 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6079_6081del (p.His2027del) deletion not provided [RCV001918179] Chr11:77211177..77211179 [GRCh38]
Chr11:76922222..76922224 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3002T>G (p.Phe1001Cys) single nucleotide variant not provided [RCV001921726] Chr11:77182048 [GRCh38]
Chr11:76893094 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5169-10G>A single nucleotide variant not provided [RCV001995909] Chr11:77203050 [GRCh38]
Chr11:76914095 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1832G>A (p.Ser611Asn) single nucleotide variant not provided [RCV001997799] Chr11:77172782 [GRCh38]
Chr11:76883828 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5282T>C (p.Leu1761Pro) single nucleotide variant not provided [RCV002045865] Chr11:77203173 [GRCh38]
Chr11:76914218 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4959del (p.Asn1653fs) deletion not provided [RCV001902278] Chr11:77201554 [GRCh38]
Chr11:76912599 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6134A>G (p.Lys2045Arg) single nucleotide variant not provided [RCV002019617] Chr11:77211234 [GRCh38]
Chr11:76922279 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3630+15G>A single nucleotide variant not provided [RCV001864764] Chr11:77189485 [GRCh38]
Chr11:76900530 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1439A>G (p.Glu480Gly) single nucleotide variant not provided [RCV002014839] Chr11:77162215 [GRCh38]
Chr11:76873261 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1775T>C (p.Ile592Thr) single nucleotide variant not provided [RCV001881657] Chr11:77166140 [GRCh38]
Chr11:76877186 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2629G>C (p.Glu877Gln) single nucleotide variant not provided [RCV001922908] Chr11:77180416 [GRCh38]
Chr11:76891462 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6638G>A (p.Ser2213Asn) single nucleotide variant not provided [RCV001938117] Chr11:77214686 [GRCh38]
Chr11:76925731 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6424dup (p.Asp2142fs) duplication not provided [RCV001901168] Chr11:77213020..77213021 [GRCh38]
Chr11:76924065..76924066 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.849+1G>A single nucleotide variant not provided [RCV001930491] Chr11:77157393 [GRCh38]
Chr11:76868439 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.913A>G (p.Met305Val) single nucleotide variant not provided [RCV001952541] Chr11:77158340 [GRCh38]
Chr11:76869386 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6298T>G (p.Phe2100Val) single nucleotide variant not provided [RCV001957248] Chr11:77211881 [GRCh38]
Chr11:76922926 [GRCh37]
Chr11:11q13.5
uncertain significance
NC_000011.9:g.(?_76901732)_(76901925_?)del deletion not provided [RCV002014997] Chr11:76901732..76901925 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4234C>G (p.Leu1412Val) single nucleotide variant not provided [RCV001904385] Chr11:77194435 [GRCh38]
Chr11:76905480 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.486_593-20delinsAG indel not provided [RCV001958965] Chr11:77156675..77156842 [GRCh38]
Chr11:76867721..76867888 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.73_98dup (p.Gly34_Gln35insArgTrpTerGly) duplication not provided [RCV001960750] Chr11:77142760..77142761 [GRCh38]
Chr11:76853806..76853807 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3108G>C (p.Leu1036=) single nucleotide variant not provided [RCV001901554] Chr11:77182154 [GRCh38]
Chr11:76893200 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2586+1G>A single nucleotide variant not provided [RCV002031585] Chr11:77179954 [GRCh38]
Chr11:76891000 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3282C>T (p.Gly1094=) single nucleotide variant not provided [RCV001936747] Chr11:77182597 [GRCh38]
Chr11:76893642 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2338G>A (p.Gly780Ser) single nucleotide variant not provided [RCV001883140] Chr11:77179100 [GRCh38]
Chr11:76890146 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1555-1G>A single nucleotide variant not provided [RCV001979337] Chr11:77162852 [GRCh38]
Chr11:76873898 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1798-2A>C single nucleotide variant not provided [RCV001961367] Chr11:77172746 [GRCh38]
Chr11:76883792 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.35T>C (p.Met12Thr) single nucleotide variant not provided [RCV001918944] Chr11:77142725 [GRCh38]
Chr11:76853771 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1562A>G (p.Asp521Gly) single nucleotide variant not provided [RCV001932948] Chr11:77162860 [GRCh38]
Chr11:76873906 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1643A>G (p.Gln548Arg) single nucleotide variant not provided [RCV001989564] Chr11:77162941 [GRCh38]
Chr11:76873987 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5637-1G>T single nucleotide variant not provided [RCV002013064] Chr11:77206096 [GRCh38]
Chr11:76917141 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4075G>C (p.Glu1359Gln) single nucleotide variant not provided [RCV001904621] Chr11:77192201 [GRCh38]
Chr11:76903246 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1205T>C (p.Ile402Thr) single nucleotide variant not provided [RCV001883351] Chr11:77160977 [GRCh38]
Chr11:76872023 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6049C>T (p.Gln2017Ter) single nucleotide variant not provided [RCV001959153] Chr11:77208801 [GRCh38]
Chr11:76919846 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3951C>G (p.Asp1317Glu) single nucleotide variant not provided [RCV001905272] Chr11:77192077 [GRCh38]
Chr11:76903122 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5502G>A (p.Trp1834Ter) single nucleotide variant not provided [RCV001972764] Chr11:77205483 [GRCh38]
Chr11:76916528 [GRCh37]
Chr11:11q13.5
pathogenic
NC_000011.10:g.77172749del deletion not provided [RCV001959136] Chr11:77172747 [GRCh38]
Chr11:76883793 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2287_2288insC (p.Asn763fs) insertion not provided [RCV001905244] Chr11:77179049..77179050 [GRCh38]
Chr11:76890095..76890096 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4599C>G (p.Cys1533Trp) single nucleotide variant not provided [RCV001959215] Chr11:77199565 [GRCh38]
Chr11:76910610 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV002482689]|not provided [RCV001884236]|not specified [RCV003230709] Chr11:77205503 [GRCh38]
Chr11:76916548 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4783G>A (p.Val1595Ile) single nucleotide variant not provided [RCV001904847] Chr11:77199749 [GRCh38]
Chr11:76910794 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3569G>A (p.Arg1190Gln) single nucleotide variant not provided [RCV001997467] Chr11:77189409 [GRCh38]
Chr11:76900454 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.272A>G (p.Asp91Gly) single nucleotide variant not provided [RCV002035634] Chr11:77147937 [GRCh38]
Chr11:76858983 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3505_3506delinsCT (p.Asp1169Leu) indel not provided [RCV002035992] Chr11:77189345..77189346 [GRCh38]
Chr11:76900390..76900391 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5662C>T (p.His1888Tyr) single nucleotide variant not provided [RCV001907025] Chr11:77206122 [GRCh38]
Chr11:76917167 [GRCh37]
Chr11:11q13.5
uncertain significance
NC_000011.9:g.(?_76892406)_(76925741_?)del deletion not provided [RCV002035491] Chr11:76892406..76925741 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3041C>T (p.Thr1014Met) single nucleotide variant not provided [RCV001925058] Chr11:77182087 [GRCh38]
Chr11:76893133 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4882G>A (p.Ala1628Thr) single nucleotide variant not provided [RCV001960795] Chr11:77201477 [GRCh38]
Chr11:76912522 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4490G>T (p.Gly1497Val) single nucleotide variant not provided [RCV002036295] Chr11:77198543 [GRCh38]
Chr11:76909588 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4288A>T (p.Lys1430Ter) single nucleotide variant not provided [RCV001952178] Chr11:77194489 [GRCh38]
Chr11:76905534 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1405G>A (p.Val469Met) single nucleotide variant not provided [RCV001879361] Chr11:77162181 [GRCh38]
Chr11:76873227 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5912_5914del (p.Asp1971_Trp1972delinsGly) deletion not provided [RCV001973116] Chr11:77208485..77208487 [GRCh38]
Chr11:76919530..76919532 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6529G>A (p.Gly2177Arg) single nucleotide variant not provided [RCV001916884] Chr11:77213950 [GRCh38]
Chr11:76924995 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3285+1_3285+2insGCGGGG insertion not provided [RCV002012657] Chr11:77182599..77182600 [GRCh38]
Chr11:76893644..76893645 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.80T>A (p.Val27Glu) single nucleotide variant not provided [RCV001883030] Chr11:77142770 [GRCh38]
Chr11:76853816 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6115G>T (p.Ala2039Ser) single nucleotide variant not provided [RCV002049945] Chr11:77211215 [GRCh38]
Chr11:76922260 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3630G>A (p.Lys1210=) single nucleotide variant not provided [RCV001976709] Chr11:77189470 [GRCh38]
Chr11:76900515 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3376-1G>A single nucleotide variant not provided [RCV001991274] Chr11:77184587 [GRCh38]
Chr11:76895632 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4013G>T (p.Arg1338Leu) single nucleotide variant not provided [RCV002027458] Chr11:77192139 [GRCh38]
Chr11:76903184 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5063C>T (p.Pro1688Leu) single nucleotide variant not provided [RCV001919747] Chr11:77202319 [GRCh38]
Chr11:76913364 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3433G>A (p.Asp1145Asn) single nucleotide variant not provided [RCV001973472] Chr11:77184645 [GRCh38]
Chr11:76895690 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3172C>T (p.His1058Tyr) single nucleotide variant not provided [RCV002010132] Chr11:77182487 [GRCh38]
Chr11:76893532 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2153A>G (p.Asp718Gly) single nucleotide variant not provided [RCV002011107] Chr11:77175430 [GRCh38]
Chr11:76886476 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4137G>T (p.Glu1379Asp) single nucleotide variant not provided [RCV002050134] Chr11:77192263 [GRCh38]
Chr11:76903308 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6238-2A>T single nucleotide variant not provided [RCV002017059] Chr11:77211819 [GRCh38]
Chr11:76922864 [GRCh37]
Chr11:11q13.5
likely pathogenic
NC_000011.9:g.(?_76890071)_(76892655_?)del deletion not provided [RCV001972613] Chr11:76890071..76892655 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6434C>T (p.Thr2145Met) single nucleotide variant not provided [RCV001955237] Chr11:77213031 [GRCh38]
Chr11:76924076 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5678A>G (p.Glu1893Gly) single nucleotide variant not provided [RCV002014762] Chr11:77206138 [GRCh38]
Chr11:76917183 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His) single nucleotide variant Usher syndrome [RCV003324573]|not provided [RCV001956140] Chr11:77205491 [GRCh38]
Chr11:76916536 [GRCh37]
Chr11:11q13.5
pathogenic
NC_000011.9:g.(?_76858834)_(76877218_?)del deletion not provided [RCV001958728] Chr11:76858834..76877218 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4466T>C (p.Val1489Ala) single nucleotide variant not provided [RCV001978145] Chr11:77198519 [GRCh38]
Chr11:76909564 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1798-11C>A single nucleotide variant not provided [RCV001996551] Chr11:77172737 [GRCh38]
Chr11:76883783 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.132T>C (p.Asn44=) single nucleotide variant not provided [RCV001989744] Chr11:77142822 [GRCh38]
Chr11:76853868 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4071C>T (p.Pro1357=) single nucleotide variant not provided [RCV002210141] Chr11:77192197 [GRCh38]
Chr11:76903242 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5745C>T (p.Ala1915=) single nucleotide variant not provided [RCV002207144] Chr11:77207291 [GRCh38]
Chr11:76918336 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2253T>C (p.Leu751=) single nucleotide variant not provided [RCV002146603] Chr11:77177614 [GRCh38]
Chr11:76888660 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1004-13T>A single nucleotide variant not provided [RCV002085531] Chr11:77159434 [GRCh38]
Chr11:76870480 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1344-4G>A single nucleotide variant not provided [RCV002192127] Chr11:77162116 [GRCh38]
Chr11:76873162 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2565G>A (p.Leu855=) single nucleotide variant not provided [RCV002190409] Chr11:77179932 [GRCh38]
Chr11:76890978 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5382G>A (p.Glu1794=) single nucleotide variant not provided [RCV002084642] Chr11:77204131 [GRCh38]
Chr11:76915176 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2188-12T>A single nucleotide variant not provided [RCV002165154] Chr11:77177537 [GRCh38]
Chr11:76888583 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2188-10T>C single nucleotide variant not provided [RCV002185010] Chr11:77177539 [GRCh38]
Chr11:76888585 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1926G>A (p.Lys642=) single nucleotide variant not provided [RCV002145338] Chr11:77172876 [GRCh38]
Chr11:76883922 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4521A>G (p.Val1507=) single nucleotide variant not provided [RCV002189050] Chr11:77198574 [GRCh38]
Chr11:76909619 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4020C>T (p.Ala1340=) single nucleotide variant not provided [RCV002207162] Chr11:77192146 [GRCh38]
Chr11:76903191 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.850-8C>T single nucleotide variant not provided [RCV002072647] Chr11:77158269 [GRCh38]
Chr11:76869315 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2322C>A (p.Ile774=) single nucleotide variant not provided [RCV002074627] Chr11:77179084 [GRCh38]
Chr11:76890130 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3780G>A (p.Leu1260=) single nucleotide variant not provided [RCV002208990] Chr11:77190726 [GRCh38]
Chr11:76901771 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5168+8C>T single nucleotide variant not provided [RCV002074713] Chr11:77202432 [GRCh38]
Chr11:76913477 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4568+15A>G single nucleotide variant not provided [RCV002129417] Chr11:77198636 [GRCh38]
Chr11:76909681 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1201-7C>T single nucleotide variant not provided [RCV002166826] Chr11:77160966 [GRCh38]
Chr11:76872012 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5706T>A (p.Ile1902=) single nucleotide variant not provided [RCV002208100] Chr11:77206166 [GRCh38]
Chr11:76917211 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1479G>A (p.Gln493=) single nucleotide variant not provided [RCV002147561] Chr11:77162255 [GRCh38]
Chr11:76873301 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.174T>G (p.Pro58=) single nucleotide variant not provided [RCV002092614] Chr11:77147839 [GRCh38]
Chr11:76858885 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6126C>T (p.Tyr2042=) single nucleotide variant not provided [RCV002088091] Chr11:77211226 [GRCh38]
Chr11:76922271 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5945-7G>A single nucleotide variant not provided [RCV002205130] Chr11:77208690 [GRCh38]
Chr11:76919735 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1257C>T (p.Tyr419=) single nucleotide variant not provided [RCV002072584] Chr11:77161029 [GRCh38]
Chr11:76872075 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1691-8G>A single nucleotide variant not provided [RCV002086547] Chr11:77166048 [GRCh38]
Chr11:76877094 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.850-12C>T single nucleotide variant not provided [RCV002108029] Chr11:77158265 [GRCh38]
Chr11:76869311 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2095-8C>T single nucleotide variant not provided [RCV002165659] Chr11:77175364 [GRCh38]
Chr11:76886410 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3286-6C>T single nucleotide variant not provided [RCV002074774] Chr11:77183062 [GRCh38]
Chr11:76894107 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4383T>C (p.Tyr1461=) single nucleotide variant not provided [RCV002164842] Chr11:77197540 [GRCh38]
Chr11:76908585 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.216C>T (p.Arg72=) single nucleotide variant not provided [RCV002166039] Chr11:77147881 [GRCh38]
Chr11:76858927 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.675C>A (p.Gly225=) single nucleotide variant not provided [RCV002205229] Chr11:77156944 [GRCh38]
Chr11:76867990 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2049G>A (p.Glu683=) single nucleotide variant not provided [RCV002147818] Chr11:77174869 [GRCh38]
Chr11:76885915 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4239G>T (p.Val1413=) single nucleotide variant not provided [RCV002164827] Chr11:77194440 [GRCh38]
Chr11:76905485 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3903C>G (p.Leu1301=) single nucleotide variant not provided [RCV002169323] Chr11:77190849 [GRCh38]
Chr11:76901894 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5743-20G>A single nucleotide variant not provided [RCV002085187] Chr11:77207269 [GRCh38]
Chr11:76918314 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4917G>T (p.Thr1639=) single nucleotide variant not provided [RCV002167980] Chr11:77201512 [GRCh38]
Chr11:76912557 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5857-12C>G single nucleotide variant not provided [RCV002169428] Chr11:77208418 [GRCh38]
Chr11:76919463 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3975G>A (p.Gln1325=) single nucleotide variant not provided [RCV002130408] Chr11:77192101 [GRCh38]
Chr11:76903146 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1899G>T (p.Val633=) single nucleotide variant not provided [RCV002192604] Chr11:77172849 [GRCh38]
Chr11:76883895 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4059C>G (p.Pro1353=) single nucleotide variant not provided [RCV002075727] Chr11:77192185 [GRCh38]
Chr11:76903230 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6355-12C>G single nucleotide variant not provided [RCV002128338] Chr11:77212940 [GRCh38]
Chr11:76923985 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5637-16_5637-8del microsatellite not provided [RCV002186451] Chr11:77206070..77206078 [GRCh38]
Chr11:76917115..76917123 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5945-19C>T single nucleotide variant not provided [RCV002105973] Chr11:77208678 [GRCh38]
Chr11:76919723 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1555-6C>T single nucleotide variant not provided [RCV002210897] Chr11:77162847 [GRCh38]
Chr11:76873893 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.19-17C>T single nucleotide variant not provided [RCV002112424] Chr11:77142692 [GRCh38]
Chr11:76853738 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3375+18G>A single nucleotide variant not provided [RCV002166766] Chr11:77183175 [GRCh38]
Chr11:76894220 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3109-9C>G single nucleotide variant not provided [RCV002127208] Chr11:77182415 [GRCh38]
Chr11:76893460 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6558+9G>T single nucleotide variant not provided [RCV002128649] Chr11:77213988 [GRCh38]
Chr11:76925033 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2736G>A (p.Glu912=) single nucleotide variant not provided [RCV002189436] Chr11:77181421 [GRCh38]
Chr11:76892467 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1873C>T (p.Leu625=) single nucleotide variant not provided [RCV002165859] Chr11:77172823 [GRCh38]
Chr11:76883869 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3156C>T (p.Leu1052=) single nucleotide variant not provided [RCV002090782] Chr11:77182471 [GRCh38]
Chr11:76893516 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.939C>T (p.Thr313=) single nucleotide variant not provided [RCV002087962] Chr11:77158366 [GRCh38]
Chr11:76869412 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6477C>T (p.Asn2159=) single nucleotide variant not provided [RCV002205312] Chr11:77213898 [GRCh38]
Chr11:76924943 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5442T>C (p.Tyr1814=) single nucleotide variant not provided [RCV002072819] Chr11:77204191 [GRCh38]
Chr11:76915236 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3833C>T (p.Thr1278Ile) single nucleotide variant Sensorineural hearing loss disorder [RCV002244297] Chr11:77190779 [GRCh38]
Chr11:76901824 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3631-15G>A single nucleotide variant not provided [RCV002187600] Chr11:77190005 [GRCh38]
Chr11:76901050 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1218G>A (p.Leu406=) single nucleotide variant not provided [RCV002187196] Chr11:77160990 [GRCh38]
Chr11:76872036 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5169-20C>T single nucleotide variant not provided [RCV002110997] Chr11:77203040 [GRCh38]
Chr11:76914085 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5327-12G>A single nucleotide variant not provided [RCV002189016] Chr11:77204064 [GRCh38]
Chr11:76915109 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2103C>G (p.Leu701=) single nucleotide variant not provided [RCV002107010] Chr11:77175380 [GRCh38]
Chr11:76886426 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.345G>T (p.Ser115=) single nucleotide variant not provided [RCV002191481] Chr11:77155966 [GRCh38]
Chr11:76867012 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6171C>A (p.Pro2057=) single nucleotide variant not provided [RCV002185418] Chr11:77211271 [GRCh38]
Chr11:76922316 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5637-19G>T single nucleotide variant not provided [RCV002169084] Chr11:77206078 [GRCh38]
Chr11:76917123 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2706C>A (p.Ala902=) single nucleotide variant not provided [RCV002075821] Chr11:77181391 [GRCh38]
Chr11:76892437 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1641C>A (p.Thr547=) single nucleotide variant not provided [RCV002167754] Chr11:77162939 [GRCh38]
Chr11:76873985 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6597C>T (p.Ser2199=) single nucleotide variant not provided [RCV002165329] Chr11:77214645 [GRCh38]
Chr11:76925690 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-3del deletion not provided [RCV002128154] Chr11:77172740 [GRCh38]
Chr11:76883786 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1554+20G>A single nucleotide variant not provided [RCV002109930] Chr11:77162350 [GRCh38]
Chr11:76873396 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5322C>T (p.Phe1774=) single nucleotide variant not provided [RCV002091652] Chr11:77203213 [GRCh38]
Chr11:76914258 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6450C>T (p.Thr2150=) single nucleotide variant not provided [RCV002107055] Chr11:77213871 [GRCh38]
Chr11:76924916 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5913C>T (p.Asp1971=) single nucleotide variant not provided [RCV002192188] Chr11:77208486 [GRCh38]
Chr11:76919531 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3336G>A (p.Val1112=) single nucleotide variant not provided [RCV002095983] Chr11:77183118 [GRCh38]
Chr11:76894163 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1074G>T (p.Leu358=) single nucleotide variant not provided [RCV002186559] Chr11:77159517 [GRCh38]
Chr11:76870563 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.951G>A (p.Glu317=) single nucleotide variant not provided [RCV002106021] Chr11:77158378 [GRCh38]
Chr11:76869424 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6036C>T (p.Ile2012=) single nucleotide variant not provided [RCV002191169] Chr11:77208788 [GRCh38]
Chr11:76919833 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.363G>A (p.Gln121=) single nucleotide variant not provided [RCV002172357] Chr11:77155984 [GRCh38]
Chr11:76867030 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2943C>T (p.Asp981=) single nucleotide variant not provided [RCV002153682] Chr11:77181989 [GRCh38]
Chr11:76893035 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5658T>C (p.Pro1886=) single nucleotide variant not provided [RCV002079661] Chr11:77206118 [GRCh38]
Chr11:76917163 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2580G>A (p.Arg860=) single nucleotide variant not provided [RCV002185193] Chr11:77179947 [GRCh38]
Chr11:76890993 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1044C>T (p.Phe348=) single nucleotide variant not provided [RCV002174277] Chr11:77159487 [GRCh38]
Chr11:76870533 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5187G>T (p.Thr1729=) single nucleotide variant not provided [RCV002215366] Chr11:77203078 [GRCh38]
Chr11:76914123 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4347T>G (p.Thr1449=) single nucleotide variant not provided [RCV002096773] Chr11:77197504 [GRCh38]
Chr11:76908549 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4659C>G (p.Pro1553=) single nucleotide variant not provided [RCV002094369] Chr11:77199625 [GRCh38]
Chr11:76910670 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5643G>A (p.Gly1881=) single nucleotide variant not provided [RCV002129231] Chr11:77206103 [GRCh38]
Chr11:76917148 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2904+17A>G single nucleotide variant not provided [RCV002113491] Chr11:77181606 [GRCh38]
Chr11:76892652 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4710C>T (p.Phe1570=) single nucleotide variant not provided [RCV002149425] Chr11:77199676 [GRCh38]
Chr11:76910721 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.592+20G>T single nucleotide variant not provided [RCV002172676] Chr11:77156801 [GRCh38]
Chr11:76867847 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5517G>A (p.Leu1839=) single nucleotide variant not provided [RCV002153707] Chr11:77205498 [GRCh38]
Chr11:76916543 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1003+19C>T single nucleotide variant not provided [RCV002094398] Chr11:77158449 [GRCh38]
Chr11:76869495 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4362C>T (p.Val1454=) single nucleotide variant not provided [RCV002113527] Chr11:77197519 [GRCh38]
Chr11:76908564 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2283-19G>A single nucleotide variant not provided [RCV002205355] Chr11:77179026 [GRCh38]
Chr11:76890072 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.5636+12A>C single nucleotide variant not provided [RCV002074958] Chr11:77205629 [GRCh38]
Chr11:76916674 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3039C>A (p.Thr1013=) single nucleotide variant not provided [RCV002150216] Chr11:77182085 [GRCh38]
Chr11:76893131 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6219A>T (p.Ser2073=) single nucleotide variant not provided [RCV002172689] Chr11:77211319 [GRCh38]
Chr11:76922364 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5349C>T (p.Asp1783=) single nucleotide variant not provided [RCV002211841] Chr11:77204098 [GRCh38]
Chr11:76915143 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6348G>A (p.Glu2116=) single nucleotide variant not provided [RCV002213846] Chr11:77211931 [GRCh38]
Chr11:76922976 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.19-5C>T single nucleotide variant not provided [RCV002133994] Chr11:77142704 [GRCh38]
Chr11:76853750 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4009G>A (p.Glu1337Lys) single nucleotide variant not provided [RCV002096334] Chr11:77192135 [GRCh38]
Chr11:76903180 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.6378T>C (p.Pro2126=) single nucleotide variant not provided [RCV002080978] Chr11:77212975 [GRCh38]
Chr11:76924020 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2695-15A>G single nucleotide variant not provided [RCV002075103] Chr11:77181365 [GRCh38]
Chr11:76892411 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5523G>C (p.Thr1841=) single nucleotide variant not provided [RCV002213926] Chr11:77205504 [GRCh38]
Chr11:76916549 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.882C>T (p.Asp294=) single nucleotide variant not provided [RCV002106895] Chr11:77158309 [GRCh38]
Chr11:76869355 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3900C>T (p.Ser1300=) single nucleotide variant not provided [RCV002208274] Chr11:77190846 [GRCh38]
Chr11:76901891 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3657C>T (p.Gly1219=) single nucleotide variant not provided [RCV002077629] Chr11:77190046 [GRCh38]
Chr11:76901091 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5168+13G>C single nucleotide variant not provided [RCV002196355] Chr11:77202437 [GRCh38]
Chr11:76913482 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1617C>A (p.Ile539=) single nucleotide variant not provided [RCV002096991] Chr11:77162915 [GRCh38]
Chr11:76873961 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.396C>T (p.Pro132=) single nucleotide variant not provided [RCV002171354] Chr11:77156017 [GRCh38]
Chr11:76867063 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4509G>A (p.Glu1503=) single nucleotide variant not provided [RCV002173969] Chr11:77198562 [GRCh38]
Chr11:76909607 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6534C>T (p.Ser2178=) single nucleotide variant not provided [RCV002097014] Chr11:77213955 [GRCh38]
Chr11:76925000 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2586+8A>G single nucleotide variant not provided [RCV002090049] Chr11:77179961 [GRCh38]
Chr11:76891007 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1194C>T (p.Phe398=) single nucleotide variant not provided [RCV002172921] Chr11:77160276 [GRCh38]
Chr11:76871322 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3699G>A (p.Arg1233=) single nucleotide variant not provided [RCV002195841] Chr11:77190088 [GRCh38]
Chr11:76901133 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.471-15T>C single nucleotide variant not provided [RCV002113753] Chr11:77156645 [GRCh38]
Chr11:76867691 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5139G>T (p.Thr1713=) single nucleotide variant not provided [RCV002146662] Chr11:77202395 [GRCh38]
Chr11:76913440 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.963C>T (p.Leu321=) single nucleotide variant not provided [RCV002212968] Chr11:77158390 [GRCh38]
Chr11:76869436 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3786G>A (p.Val1262=) single nucleotide variant not provided [RCV002080498] Chr11:77190732 [GRCh38]
Chr11:76901777 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.483G>C (p.Gly161=) single nucleotide variant not provided [RCV002153579] Chr11:77156672 [GRCh38]
Chr11:76867718 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2748G>A (p.Lys916=) single nucleotide variant not provided [RCV002174856] Chr11:77181433 [GRCh38]
Chr11:76892479 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2368-15T>C single nucleotide variant not provided [RCV002104903] Chr11:77179720 [GRCh38]
Chr11:76890766 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.39C>T (p.Asp13=) single nucleotide variant not provided [RCV002087401] Chr11:77142729 [GRCh38]
Chr11:76853775 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-10_1798-7del microsatellite not provided [RCV002166353] Chr11:77172732..77172735 [GRCh38]
Chr11:76883778..76883781 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.987C>A (p.Gly329=) single nucleotide variant not provided [RCV002097668] Chr11:77158414 [GRCh38]
Chr11:76869460 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1004-20G>C single nucleotide variant not provided [RCV002213936] Chr11:77159427 [GRCh38]
Chr11:76870473 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4596C>T (p.Gly1532=) single nucleotide variant not provided [RCV002194281] Chr11:77199562 [GRCh38]
Chr11:76910607 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3631-15G>C single nucleotide variant not provided [RCV002152777] Chr11:77190005 [GRCh38]
Chr11:76901050 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.180C>T (p.His60=) single nucleotide variant not provided [RCV002078993] Chr11:77147845 [GRCh38]
Chr11:76858891 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3691C>T (p.Leu1231=) single nucleotide variant not provided [RCV002193805] Chr11:77190080 [GRCh38]
Chr11:76901125 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.981C>T (p.His327=) single nucleotide variant not provided [RCV002115504] Chr11:77158408 [GRCh38]
Chr11:76869454 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4644G>A (p.Leu1548=) single nucleotide variant not provided [RCV002073949] Chr11:77199610 [GRCh38]
Chr11:76910655 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6579C>T (p.Leu2193=) single nucleotide variant not provided [RCV002197392] Chr11:77214627 [GRCh38]
Chr11:76925672 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.592+18A>C single nucleotide variant not provided [RCV002133545] Chr11:77156799 [GRCh38]
Chr11:76867845 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4568+9_4568+10delinsAT indel not provided [RCV002132649] Chr11:77198630..77198631 [GRCh38]
Chr11:76909675..76909676 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4911T>C (p.His1637=) single nucleotide variant not provided [RCV002078399] Chr11:77201506 [GRCh38]
Chr11:76912551 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4374G>A (p.Val1458=) single nucleotide variant not provided [RCV002078108] Chr11:77197531 [GRCh38]
Chr11:76908576 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1551C>T (p.Pro517=) single nucleotide variant not provided [RCV002215892] Chr11:77162327 [GRCh38]
Chr11:76873373 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6252C>T (p.Tyr2084=) single nucleotide variant not provided [RCV002209098] Chr11:77211835 [GRCh38]
Chr11:76922880 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2695-8T>C single nucleotide variant not provided [RCV002209203] Chr11:77181372 [GRCh38]
Chr11:76892418 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.627C>T (p.Asn209=) single nucleotide variant not provided [RCV002213787] Chr11:77156896 [GRCh38]
Chr11:76867942 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5940G>A (p.Lys1980=) single nucleotide variant not provided [RCV002084539] Chr11:77208513 [GRCh38]
Chr11:76919558 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.19-8G>C single nucleotide variant not provided [RCV002149400] Chr11:77142701 [GRCh38]
Chr11:76853747 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1692C>T (p.Gly564=) single nucleotide variant not provided [RCV002192795] Chr11:77166057 [GRCh38]
Chr11:76877103 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5193C>T (p.Ser1731=) single nucleotide variant not provided [RCV002173534] Chr11:77203084 [GRCh38]
Chr11:76914129 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3381C>G (p.Thr1127=) single nucleotide variant not provided [RCV002095409] Chr11:77184593 [GRCh38]
Chr11:76895638 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5043+19G>A single nucleotide variant not provided [RCV002106617] Chr11:77201657 [GRCh38]
Chr11:76912702 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1935+14G>A single nucleotide variant not provided [RCV002147683] Chr11:77172899 [GRCh38]
Chr11:76883945 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV003155469]|not provided [RCV002211198] Chr11:77162321 [GRCh38]
Chr11:76873367 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.4920C>A (p.Gly1640=) single nucleotide variant not provided [RCV002173610] Chr11:77201515 [GRCh38]
Chr11:76912560 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4713G>T (p.Thr1571=) single nucleotide variant not provided [RCV002214021] Chr11:77199679 [GRCh38]
Chr11:76910724 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1690+16G>A single nucleotide variant not provided [RCV002113909] Chr11:77163004 [GRCh38]
Chr11:76874050 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5427G>A (p.Leu1809=) single nucleotide variant not provided [RCV002091386] Chr11:77204176 [GRCh38]
Chr11:76915221 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.592+12G>A single nucleotide variant not provided [RCV002094096] Chr11:77156793 [GRCh38]
Chr11:76867839 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1582C>T (p.Leu528=) single nucleotide variant not provided [RCV002194227] Chr11:77162880 [GRCh38]
Chr11:76873926 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2282+8T>A single nucleotide variant not provided [RCV002085777] Chr11:77177651 [GRCh38]
Chr11:76888697 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1305C>T (p.Leu435=) single nucleotide variant not provided [RCV002093465] Chr11:77161077 [GRCh38]
Chr11:76872123 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3636G>A (p.Leu1212=) single nucleotide variant not provided [RCV002194881] Chr11:77190025 [GRCh38]
Chr11:76901070 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4568+7A>C single nucleotide variant not provided [RCV002214038] Chr11:77198628 [GRCh38]
Chr11:76909673 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5742+12C>T single nucleotide variant not provided [RCV002173147] Chr11:77206214 [GRCh38]
Chr11:76917259 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1785C>G (p.Ala595=) single nucleotide variant not provided [RCV002088396] Chr11:77166150 [GRCh38]
Chr11:76877196 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.924C>T (p.Leu308=) single nucleotide variant not provided [RCV002212106] Chr11:77158351 [GRCh38]
Chr11:76869397 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5857-18C>T single nucleotide variant not provided [RCV002093601] Chr11:77208412 [GRCh38]
Chr11:76919457 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3957C>T (p.Val1319=) single nucleotide variant not provided [RCV002096821] Chr11:77192083 [GRCh38]
Chr11:76903128 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6439-4C>A single nucleotide variant not provided [RCV002212903] Chr11:77213856 [GRCh38]
Chr11:76924901 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5481-12C>T single nucleotide variant not provided [RCV002187510] Chr11:77205450 [GRCh38]
Chr11:76916495 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3864C>G (p.Ala1288=) single nucleotide variant not provided [RCV002079117] Chr11:77190810 [GRCh38]
Chr11:76901855 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1842C>T (p.Phe614=) single nucleotide variant not provided [RCV002193238] Chr11:77172792 [GRCh38]
Chr11:76883838 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6315C>T (p.Phe2105=) single nucleotide variant not provided [RCV002215609] Chr11:77211898 [GRCh38]
Chr11:76922943 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4122A>T (p.Gly1374=) single nucleotide variant not provided [RCV002076732] Chr11:77192248 [GRCh38]
Chr11:76903293 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5803C>T (p.Leu1935=) single nucleotide variant not provided [RCV002128490] Chr11:77207349 [GRCh38]
Chr11:76918394 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3081C>G (p.Leu1027=) single nucleotide variant not provided [RCV002193318] Chr11:77182127 [GRCh38]
Chr11:76893173 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5187G>A (p.Thr1729=) single nucleotide variant not provided [RCV002194395] Chr11:77203078 [GRCh38]
Chr11:76914123 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2386C>A (p.Arg796=) single nucleotide variant not provided [RCV002114210] Chr11:77179753 [GRCh38]
Chr11:76890799 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2574C>T (p.Arg858=) single nucleotide variant not provided [RCV002151988] Chr11:77179941 [GRCh38]
Chr11:76890987 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3804C>A (p.Thr1268=) single nucleotide variant not provided [RCV002079724] Chr11:77190750 [GRCh38]
Chr11:76901795 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3376-4C>A single nucleotide variant not provided [RCV002076870] Chr11:77184584 [GRCh38]
Chr11:76895629 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2658C>A (p.Ala886=) single nucleotide variant not provided [RCV002080317] Chr11:77180445 [GRCh38]
Chr11:76891491 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1989G>A (p.Glu663=) single nucleotide variant not provided [RCV002096953] Chr11:77174809 [GRCh38]
Chr11:76885855 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1608C>T (p.Ala536=) single nucleotide variant not provided [RCV002153278] Chr11:77162906 [GRCh38]
Chr11:76873952 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4443C>A (p.Gly1481=) single nucleotide variant not provided [RCV002197039] Chr11:77198496 [GRCh38]
Chr11:76909541 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5070G>A (p.Gln1690=) single nucleotide variant not provided [RCV002171171] Chr11:77202326 [GRCh38]
Chr11:76913371 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3966C>T (p.Ala1322=) single nucleotide variant not provided [RCV002078377] Chr11:77192092 [GRCh38]
Chr11:76903137 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2187+19C>T single nucleotide variant not provided [RCV002107377] Chr11:77175483 [GRCh38]
Chr11:76886529 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2817C>T (p.His939=) single nucleotide variant not provided [RCV002079784] Chr11:77181502 [GRCh38]
Chr11:76892548 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3286-10G>C single nucleotide variant not provided [RCV002171260] Chr11:77183058 [GRCh38]
Chr11:76894103 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2406C>T (p.Arg802=) single nucleotide variant not provided [RCV002195184] Chr11:77179773 [GRCh38]
Chr11:76890819 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.129C>T (p.Asp43=) single nucleotide variant not provided [RCV002079277] Chr11:77142819 [GRCh38]
Chr11:76853865 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5636+18G>A single nucleotide variant not provided [RCV002113301] Chr11:77205635 [GRCh38]
Chr11:76916680 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4074C>G (p.Ser1358=) single nucleotide variant not provided [RCV002151489] Chr11:77192200 [GRCh38]
Chr11:76903245 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5760C>T (p.Ser1920=) single nucleotide variant not provided [RCV002151490] Chr11:77207306 [GRCh38]
Chr11:76918351 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6270G>C (p.Gly2090=) single nucleotide variant not provided [RCV002105248] Chr11:77211853 [GRCh38]
Chr11:76922898 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4056G>T (p.Thr1352=) single nucleotide variant not provided [RCV002150413] Chr11:77192182 [GRCh38]
Chr11:76903227 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3109-13C>T single nucleotide variant not provided [RCV002138617] Chr11:77182411 [GRCh38]
Chr11:76893456 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.132+19_132+24del microsatellite not provided [RCV002157322] Chr11:77142838..77142843 [GRCh38]
Chr11:76853884..76853889 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2205G>T (p.Leu735=) single nucleotide variant not provided [RCV002138950] Chr11:77177566 [GRCh38]
Chr11:76888612 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4623T>C (p.Pro1541=) single nucleotide variant not provided [RCV002180761] Chr11:77199589 [GRCh38]
Chr11:76910634 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6249C>T (p.Ala2083=) single nucleotide variant not provided [RCV002103766] Chr11:77211832 [GRCh38]
Chr11:76922877 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4347T>C (p.Thr1449=) single nucleotide variant not provided [RCV002099733] Chr11:77197504 [GRCh38]
Chr11:76908549 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4839T>C (p.Asp1613=) single nucleotide variant not provided [RCV002099956] Chr11:77199805 [GRCh38]
Chr11:76910850 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.133-4G>T single nucleotide variant not provided [RCV002179120] Chr11:77147794 [GRCh38]
Chr11:76858840 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5550C>A (p.Leu1850=) single nucleotide variant not provided [RCV002099849] Chr11:77205531 [GRCh38]
Chr11:76916576 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2904+14G>A single nucleotide variant not provided [RCV002179045] Chr11:77181603 [GRCh38]
Chr11:76892649 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6216C>T (p.Val2072=) single nucleotide variant not provided [RCV002220435] Chr11:77211316 [GRCh38]
Chr11:76922361 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5265G>T (p.Ala1755=) single nucleotide variant not provided [RCV002139488] Chr11:77203156 [GRCh38]
Chr11:76914201 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.19-13C>T single nucleotide variant not provided [RCV002104106] Chr11:77142696 [GRCh38]
Chr11:76853742 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1500C>T (p.Ala500=) single nucleotide variant not provided [RCV002157895] Chr11:77162276 [GRCh38]
Chr11:76873322 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.828T>C (p.Ser276=) single nucleotide variant not provided [RCV002098251] Chr11:77157371 [GRCh38]
Chr11:76868417 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2328G>A (p.Arg776=) single nucleotide variant not provided [RCV002098535] Chr11:77179090 [GRCh38]
Chr11:76890136 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.285+14_285+18del microsatellite not provided [RCV002198432] Chr11:77147958..77147962 [GRCh38]
Chr11:76859004..76859008 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2538T>C (p.Tyr846=) single nucleotide variant not provided [RCV002179560] Chr11:77179905 [GRCh38]
Chr11:76890951 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3375+13G>A single nucleotide variant not provided [RCV002204136] Chr11:77183170 [GRCh38]
Chr11:76894215 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.850-4C>T single nucleotide variant not provided [RCV002200293] Chr11:77158273 [GRCh38]
Chr11:76869319 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.609G>A (p.Lys203=) single nucleotide variant not provided [RCV002141799] Chr11:77156878 [GRCh38]
Chr11:76867924 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5743-4C>G single nucleotide variant not provided [RCV002156607] Chr11:77207285 [GRCh38]
Chr11:76918330 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6439-18C>A single nucleotide variant not provided [RCV002221131] Chr11:77213842 [GRCh38]
Chr11:76924887 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2283-18C>A single nucleotide variant not provided [RCV002098870] Chr11:77179027 [GRCh38]
Chr11:76890073 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1377G>A (p.Glu459=) single nucleotide variant not provided [RCV002120583] Chr11:77162153 [GRCh38]
Chr11:76873199 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.285+16C>T single nucleotide variant not provided [RCV002180212] Chr11:77147966 [GRCh38]
Chr11:76859012 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5742+11C>T single nucleotide variant not provided [RCV002142023] Chr11:77206213 [GRCh38]
Chr11:76917258 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6051+8C>A single nucleotide variant not provided [RCV002155332] Chr11:77208811 [GRCh38]
Chr11:76919856 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.133-15T>C single nucleotide variant not provided [RCV002161027] Chr11:77147783 [GRCh38]
Chr11:76858829 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.471-17A>C single nucleotide variant not provided [RCV002158906] Chr11:77156643 [GRCh38]
Chr11:76867689 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6238-15G>A single nucleotide variant not provided [RCV002103056] Chr11:77211806 [GRCh38]
Chr11:76922851 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5925A>G (p.Lys1975=) single nucleotide variant not provided [RCV002180449] Chr11:77208498 [GRCh38]
Chr11:76919543 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.342C>T (p.Tyr114=) single nucleotide variant not provided [RCV002180532] Chr11:77155963 [GRCh38]
Chr11:76867009 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4569-7C>T single nucleotide variant not provided [RCV002164713] Chr11:77199528 [GRCh38]
Chr11:76910573 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4153-18A>G single nucleotide variant not provided [RCV002099722] Chr11:77194336 [GRCh38]
Chr11:76905381 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.443A>G (p.Asn148Ser) single nucleotide variant Inborn genetic diseases [RCV003015289]|not provided [RCV002119390] Chr11:77156064 [GRCh38]
Chr11:76867110 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.1004-7C>T single nucleotide variant not provided [RCV002177056] Chr11:77159440 [GRCh38]
Chr11:76870486 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1003+11G>A single nucleotide variant not provided [RCV002178969] Chr11:77158441 [GRCh38]
Chr11:76869487 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6237+8T>C single nucleotide variant not provided [RCV002121303] Chr11:77211345 [GRCh38]
Chr11:76922390 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4152+18T>A single nucleotide variant not provided [RCV002199716] Chr11:77192296 [GRCh38]
Chr11:76903341 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1900C>A (p.Arg634=) single nucleotide variant not provided [RCV002141312] Chr11:77172850 [GRCh38]
Chr11:76883896 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1632C>T (p.Asn544=) single nucleotide variant not provided [RCV002160081] Chr11:77162930 [GRCh38]
Chr11:76873976 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4053C>T (p.Phe1351=) single nucleotide variant not provided [RCV002175614] Chr11:77192179 [GRCh38]
Chr11:76903224 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5142G>A (p.Leu1714=) single nucleotide variant not provided [RCV002198124] Chr11:77202398 [GRCh38]
Chr11:76913443 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3925-15C>T single nucleotide variant not provided [RCV002119870] Chr11:77192036 [GRCh38]
Chr11:76903081 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4323+15A>G single nucleotide variant not provided [RCV002156223] Chr11:77194539 [GRCh38]
Chr11:76905584 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-17_1798-13del deletion not provided [RCV002160175] Chr11:77172730..77172734 [GRCh38]
Chr11:76883776..76883780 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3696A>G (p.Arg1232=) single nucleotide variant not provided [RCV002141506] Chr11:77190085 [GRCh38]
Chr11:76901130 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.304C>T (p.Leu102=) single nucleotide variant not provided [RCV002183288] Chr11:77155925 [GRCh38]
Chr11:76866971 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3708C>T (p.Val1236=) single nucleotide variant not provided [RCV002219128] Chr11:77190097 [GRCh38]
Chr11:76901142 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6531G>A (p.Gly2177=) single nucleotide variant not provided [RCV002163869] Chr11:77213952 [GRCh38]
Chr11:76924997 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.132+9T>A single nucleotide variant not provided [RCV002163940] Chr11:77142831 [GRCh38]
Chr11:76853877 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3286-9G>T single nucleotide variant not provided [RCV002176042] Chr11:77183059 [GRCh38]
Chr11:76894104 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3231C>A (p.Thr1077=) single nucleotide variant not provided [RCV002219299] Chr11:77182546 [GRCh38]
Chr11:76893591 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1936-4G>A single nucleotide variant not provided [RCV002183913] Chr11:77174752 [GRCh38]
Chr11:76885798 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.592+10G>C single nucleotide variant not provided [RCV002157074] Chr11:77156791 [GRCh38]
Chr11:76867837 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1935+7G>A single nucleotide variant not provided [RCV002120707] Chr11:77172892 [GRCh38]
Chr11:76883938 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4935C>T (p.Asn1645=) single nucleotide variant not provided [RCV002162650] Chr11:77201530 [GRCh38]
Chr11:76912575 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3444C>A (p.Thr1148=) single nucleotide variant not provided [RCV002164373] Chr11:77184656 [GRCh38]
Chr11:76895701 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3232C>T (p.Leu1078=) single nucleotide variant not provided [RCV002120770] Chr11:77182547 [GRCh38]
Chr11:76893592 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.174T>C (p.Pro58=) single nucleotide variant not provided [RCV002159031] Chr11:77147839 [GRCh38]
Chr11:76858885 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1690+9G>A single nucleotide variant not provided [RCV002142480] Chr11:77162997 [GRCh38]
Chr11:76874043 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5832C>T (p.Ser1944=) single nucleotide variant not provided [RCV002082838] Chr11:77207378 [GRCh38]
Chr11:76918423 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2694+15T>C single nucleotide variant not provided [RCV002138726] Chr11:77180496 [GRCh38]
Chr11:76891542 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1691-4G>T single nucleotide variant not provided [RCV002201200] Chr11:77166052 [GRCh38]
Chr11:76877098 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1080+12G>A single nucleotide variant not provided [RCV002101582] Chr11:77159535 [GRCh38]
Chr11:76870581 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.678C>A (p.Ala226=) single nucleotide variant not provided [RCV002155590] Chr11:77156947 [GRCh38]
Chr11:76867993 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4023C>A (p.Pro1341=) single nucleotide variant not provided [RCV002137102] Chr11:77192149 [GRCh38]
Chr11:76903194 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4494G>A (p.Val1498=) single nucleotide variant not provided [RCV002157616] Chr11:77198547 [GRCh38]
Chr11:76909592 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.204G>A (p.Glu68=) single nucleotide variant not provided [RCV002121255] Chr11:77147869 [GRCh38]
Chr11:76858915 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5327-16_5327-13del microsatellite not provided [RCV002220322] Chr11:77204056..77204059 [GRCh38]
Chr11:76915101..76915104 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1343+12G>A single nucleotide variant not provided [RCV002182309] Chr11:77161127 [GRCh38]
Chr11:76872173 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.285+15G>A single nucleotide variant not provided [RCV002142346] Chr11:77147965 [GRCh38]
Chr11:76859011 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4881T>C (p.Phe1627=) single nucleotide variant not provided [RCV002162855] Chr11:77201476 [GRCh38]
Chr11:76912521 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3376-14T>C single nucleotide variant not provided [RCV002154016] Chr11:77184574 [GRCh38]
Chr11:76895619 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1560A>G (p.Thr520=) single nucleotide variant not provided [RCV002220371] Chr11:77162858 [GRCh38]
Chr11:76873904 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5244G>T (p.Thr1748=) single nucleotide variant not provided [RCV002083507] Chr11:77203135 [GRCh38]
Chr11:76914180 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4116G>A (p.Val1372=) single nucleotide variant not provided [RCV002154350] Chr11:77192242 [GRCh38]
Chr11:76903287 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5361G>A (p.Lys1787=) single nucleotide variant not provided [RCV002119759] Chr11:77204110 [GRCh38]
Chr11:76915155 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3117G>A (p.Leu1039=) single nucleotide variant not provided [RCV002177522] Chr11:77182432 [GRCh38]
Chr11:76893477 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3171C>T (p.Tyr1057=) single nucleotide variant not provided [RCV002177438] Chr11:77182486 [GRCh38]
Chr11:76893531 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.702G>A (p.Gln234=) single nucleotide variant not provided [RCV002157997] Chr11:77156971 [GRCh38]
Chr11:76868017 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5592C>T (p.Cys1864=) single nucleotide variant not provided [RCV002103644] Chr11:77205573 [GRCh38]
Chr11:76916618 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4323+9G>A single nucleotide variant not provided [RCV002184666] Chr11:77194533 [GRCh38]
Chr11:76905578 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3925-9_3925-8del microsatellite not provided [RCV002177655] Chr11:77192040..77192041 [GRCh38]
Chr11:76903085..76903086 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4647C>G (p.Thr1549=) single nucleotide variant not provided [RCV002184733] Chr11:77199613 [GRCh38]
Chr11:76910658 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5742+15C>T single nucleotide variant not provided [RCV002121782] Chr11:77206217 [GRCh38]
Chr11:76917262 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4884C>T (p.Ala1628=) single nucleotide variant not provided [RCV002103893] Chr11:77201479 [GRCh38]
Chr11:76912524 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1089C>G (p.Pro363=) single nucleotide variant not provided [RCV002082005] Chr11:77160171 [GRCh38]
Chr11:76871217 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.966G>A (p.Leu322=) single nucleotide variant not provided [RCV002121956] Chr11:77158393 [GRCh38]
Chr11:76869439 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5571C>T (p.Phe1857=) single nucleotide variant not provided [RCV002202156] Chr11:77205552 [GRCh38]
Chr11:76916597 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3286-7C>T single nucleotide variant not provided [RCV002203695] Chr11:77183061 [GRCh38]
Chr11:76894106 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4506T>C (p.Asp1502=) single nucleotide variant not provided [RCV002141218] Chr11:77198559 [GRCh38]
Chr11:76909604 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.593-19C>A single nucleotide variant not provided [RCV002217346] Chr11:77156843 [GRCh38]
Chr11:76867889 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6052-19C>G single nucleotide variant not provided [RCV002084149] Chr11:77211133 [GRCh38]
Chr11:76922178 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3612C>A (p.Pro1204=) single nucleotide variant not provided [RCV002183215] Chr11:77189452 [GRCh38]
Chr11:76900497 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1881C>G (p.Ala627=) single nucleotide variant not provided [RCV002200643] Chr11:77172831 [GRCh38]
Chr11:76883877 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3888G>A (p.Arg1296=) single nucleotide variant not provided [RCV002084367] Chr11:77190834 [GRCh38]
Chr11:76901879 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1818C>T (p.Arg606=) single nucleotide variant not provided [RCV002198766] Chr11:77172768 [GRCh38]
Chr11:76883814 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2511C>T (p.Leu837=) single nucleotide variant not provided [RCV002183568] Chr11:77179878 [GRCh38]
Chr11:76890924 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4153-20C>T single nucleotide variant not provided [RCV002217803] Chr11:77194334 [GRCh38]
Chr11:76905379 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2832C>T (p.Asp944=) single nucleotide variant not provided [RCV002178556] Chr11:77181517 [GRCh38]
Chr11:76892563 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4263G>A (p.Glu1421=) single nucleotide variant not provided [RCV002180126] Chr11:77194464 [GRCh38]
Chr11:76905509 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5469C>T (p.Asp1823=) single nucleotide variant not provided [RCV002140230] Chr11:77204218 [GRCh38]
Chr11:76915263 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4542A>G (p.Pro1514=) single nucleotide variant not provided [RCV002204364] Chr11:77198595 [GRCh38]
Chr11:76909640 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1302C>T (p.Gly434=) single nucleotide variant not provided [RCV002183764] Chr11:77161074 [GRCh38]
Chr11:76872120 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5733C>T (p.Asp1911=) single nucleotide variant not provided [RCV002155949] Chr11:77206193 [GRCh38]
Chr11:76917238 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6096G>A (p.Glu2032=) single nucleotide variant not provided [RCV002121507] Chr11:77211196 [GRCh38]
Chr11:76922241 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.795T>C (p.Asp265=) single nucleotide variant not provided [RCV002180351] Chr11:77157338 [GRCh38]
Chr11:76868384 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4401C>T (p.Pro1467=) single nucleotide variant not provided [RCV002155746] Chr11:77197558 [GRCh38]
Chr11:76908603 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1554+19C>T single nucleotide variant not provided [RCV002177042] Chr11:77162349 [GRCh38]
Chr11:76873395 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3357G>A (p.Lys1119=) single nucleotide variant not provided [RCV002156046] Chr11:77183139 [GRCh38]
Chr11:76894184 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5742+9C>T single nucleotide variant not provided [RCV002203012] Chr11:77206211 [GRCh38]
Chr11:76917256 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3414G>A (p.Gln1138=) single nucleotide variant not provided [RCV002203026] Chr11:77184626 [GRCh38]
Chr11:76895671 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.592+8C>T single nucleotide variant not provided [RCV002140544] Chr11:77156789 [GRCh38]
Chr11:76867835 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6285G>A (p.Glu2095=) single nucleotide variant not provided [RCV002137577] Chr11:77211868 [GRCh38]
Chr11:76922913 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6558+20G>A single nucleotide variant not provided [RCV002159376] Chr11:77213999 [GRCh38]
Chr11:76925044 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1004-8G>T single nucleotide variant not provided [RCV002157881] Chr11:77159439 [GRCh38]
Chr11:76870485 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3711T>C (p.Asn1237=) single nucleotide variant not provided [RCV002081647] Chr11:77190100 [GRCh38]
Chr11:76901145 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4527G>A (p.Leu1509=) single nucleotide variant not provided [RCV002203220] Chr11:77198580 [GRCh38]
Chr11:76909625 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-12_1798-11delinsTT indel not provided [RCV002137507] Chr11:77172736..77172737 [GRCh38]
Chr11:76883782..76883783 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1174C>T (p.Leu392=) single nucleotide variant not provided [RCV002098370] Chr11:77160256 [GRCh38]
Chr11:76871302 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5409C>A (p.Pro1803=) single nucleotide variant not provided [RCV002221010] Chr11:77204158 [GRCh38]
Chr11:76915203 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3468C>T (p.Phe1156=) single nucleotide variant not provided [RCV002216777] Chr11:77184680 [GRCh38]
Chr11:76895725 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5094G>A (p.Leu1698=) single nucleotide variant not provided [RCV002156272] Chr11:77202350 [GRCh38]
Chr11:76913395 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2187+10G>A single nucleotide variant not provided [RCV002081810] Chr11:77175474 [GRCh38]
Chr11:76886520 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2130G>A (p.Glu710=) single nucleotide variant not provided [RCV002179776] Chr11:77175407 [GRCh38]
Chr11:76886453 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4173G>A (p.Leu1391=) single nucleotide variant not provided [RCV002175986] Chr11:77194374 [GRCh38]
Chr11:76905419 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4080C>T (p.Asp1360=) single nucleotide variant not provided [RCV002098522] Chr11:77192206 [GRCh38]
Chr11:76903251 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5945-15T>C single nucleotide variant not provided [RCV002098828] Chr11:77208682 [GRCh38]
Chr11:76919727 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3402G>A (p.Glu1134=) single nucleotide variant not provided [RCV002118570] Chr11:77184614 [GRCh38]
Chr11:76895659 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2617C>A (p.Arg873=) single nucleotide variant not provided [RCV002154737] Chr11:77180404 [GRCh38]
Chr11:76891450 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5100G>T (p.Leu1700=) single nucleotide variant not provided [RCV002082182] Chr11:77202356 [GRCh38]
Chr11:76913401 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1003+11G>T single nucleotide variant not provided [RCV002082472] Chr11:77158441 [GRCh38]
Chr11:76869487 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6180G>T (p.Leu2060=) single nucleotide variant not provided [RCV002202567] Chr11:77211280 [GRCh38]
Chr11:76922325 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4442-10C>G single nucleotide variant not provided [RCV002157233] Chr11:77198485 [GRCh38]
Chr11:76909530 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4854A>G (p.Ala1618=) single nucleotide variant not provided [RCV002160433] Chr11:77201449 [GRCh38]
Chr11:76912494 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2019C>T (p.Pro673=) single nucleotide variant not provided [RCV002176458] Chr11:77174839 [GRCh38]
Chr11:76885885 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4857C>G (p.Gly1619=) single nucleotide variant not provided [RCV002204664] Chr11:77201452 [GRCh38]
Chr11:76912497 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1191C>G (p.Ala397=) single nucleotide variant not provided [RCV002202834] Chr11:77160273 [GRCh38]
Chr11:76871319 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.132+10C>T single nucleotide variant not provided [RCV002199282] Chr11:77142832 [GRCh38]
Chr11:76853878 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.81G>A (p.Val27=) single nucleotide variant not provided [RCV002218099] Chr11:77142771 [GRCh38]
Chr11:76853817 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3837G>T (p.Thr1279=) single nucleotide variant not provided [RCV002122300] Chr11:77190783 [GRCh38]
Chr11:76901828 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.153G>A (p.Gln51=) single nucleotide variant not provided [RCV002184487] Chr11:77147818 [GRCh38]
Chr11:76858864 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5743-5C>T single nucleotide variant not provided [RCV002120858] Chr11:77207284 [GRCh38]
Chr11:76918329 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5743-12_5743-11inv inversion not provided [RCV002142590] Chr11:77207277..77207278 [GRCh38]
Chr11:76918322..76918323 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6388C>T (p.Leu2130=) single nucleotide variant not provided [RCV002219982] Chr11:77212985 [GRCh38]
Chr11:76924030 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5636+13C>T single nucleotide variant not provided [RCV002182513] Chr11:77205630 [GRCh38]
Chr11:76916675 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.486C>A (p.Ala162=) single nucleotide variant not provided [RCV002122552] Chr11:77156675 [GRCh38]
Chr11:76867721 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1776C>T (p.Ile592=) single nucleotide variant not provided [RCV002142788] Chr11:77166141 [GRCh38]
Chr11:76877187 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1971G>A (p.Arg657=) single nucleotide variant not provided [RCV002184774] Chr11:77174791 [GRCh38]
Chr11:76885837 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2587-11C>T single nucleotide variant not provided [RCV003110591] Chr11:77180363 [GRCh38]
Chr11:76891409 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1797+7C>G single nucleotide variant not provided [RCV003110750] Chr11:77166169 [GRCh38]
Chr11:76877215 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5176C>G (p.Pro1726Ala) single nucleotide variant not provided [RCV003118105] Chr11:77203067 [GRCh38]
Chr11:76914112 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5670G>A (p.Val1890=) single nucleotide variant not provided [RCV003117029] Chr11:77206130 [GRCh38]
Chr11:76917175 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1344-17T>C single nucleotide variant not provided [RCV003111993] Chr11:77162103 [GRCh38]
Chr11:76873149 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3924+13G>A single nucleotide variant not provided [RCV003114877] Chr11:77190883 [GRCh38]
Chr11:76901928 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1210G>C (p.Gly404Arg) single nucleotide variant not provided [RCV003112742] Chr11:77160982 [GRCh38]
Chr11:76872028 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2586+5G>A single nucleotide variant not provided [RCV003112127] Chr11:77179958 [GRCh38]
Chr11:76891004 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5625G>C (p.Gln1875His) single nucleotide variant not provided [RCV003112822] Chr11:77205606 [GRCh38]
Chr11:76916651 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3167A>G (p.Lys1056Arg) single nucleotide variant not provided [RCV003112842] Chr11:77182482 [GRCh38]
Chr11:76893527 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3080T>C (p.Leu1027Pro) single nucleotide variant not provided [RCV003112221] Chr11:77182126 [GRCh38]
Chr11:76893172 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2005C>G (p.Arg669Gly) single nucleotide variant not provided [RCV003121870] Chr11:77174825 [GRCh38]
Chr11:76885871 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5460G>A (p.Gln1820=) single nucleotide variant not provided [RCV003118739] Chr11:77204209 [GRCh38]
Chr11:76915254 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3373G>A (p.Glu1125Lys) single nucleotide variant not provided [RCV003121431] Chr11:77183155 [GRCh38]
Chr11:76894200 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.133-18C>T single nucleotide variant not provided [RCV003121454] Chr11:77147780 [GRCh38]
Chr11:76858826 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5113C>A (p.Pro1705Thr) single nucleotide variant not provided [RCV003118862] Chr11:77202369 [GRCh38]
Chr11:76913414 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5337G>A (p.Lys1779=) single nucleotide variant not provided [RCV003120064] Chr11:77204086 [GRCh38]
Chr11:76915131 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2918G>A (p.Gly973Glu) single nucleotide variant not provided [RCV003129558] Chr11:77181964 [GRCh38]
Chr11:76893010 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3503+1G>T single nucleotide variant not provided [RCV003130957] Chr11:77184716 [GRCh38]
Chr11:76895761 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.140G>A (p.Trp47Ter) single nucleotide variant See cases [RCV003128547] Chr11:77147805 [GRCh38]
Chr11:76858851 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5368C>A (p.Arg1790Ser) single nucleotide variant not provided [RCV003154178] Chr11:77204117 [GRCh38]
Chr11:76915162 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5327C>T (p.Ala1776Val) single nucleotide variant not provided [RCV003149472] Chr11:77204076 [GRCh38]
Chr11:76915121 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1355dup (p.Cys453fs) duplication not provided [RCV003130960] Chr11:77162130..77162131 [GRCh38]
Chr11:76873176..76873177 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5716G>A (p.Val1906Ile) single nucleotide variant not provided [RCV002265442] Chr11:77206176 [GRCh38]
Chr11:76917221 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2164G>C (p.Gly722Arg) single nucleotide variant not provided [RCV002274591] Chr11:77175441 [GRCh38]
Chr11:76886487 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.1786G>A (p.Asp596Asn) single nucleotide variant not provided [RCV002283224] Chr11:77166151 [GRCh38]
Chr11:76877197 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1935+6T>C single nucleotide variant not specified [RCV003236396] Chr11:77172891 [GRCh38]
Chr11:76883937 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4304C>A (p.Ala1435Asp) single nucleotide variant not provided [RCV002265438] Chr11:77194505 [GRCh38]
Chr11:76905550 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2423A>G (p.Gln808Arg) single nucleotide variant not specified [RCV002282817] Chr11:77179790 [GRCh38]
Chr11:76890836 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2786T>C (p.Met929Thr) single nucleotide variant not provided [RCV002287090] Chr11:77181471 [GRCh38]
Chr11:76892517 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2020A>C (p.Ile674Leu) single nucleotide variant not provided [RCV002297345] Chr11:77174840 [GRCh38]
Chr11:76885886 [GRCh37]
Chr11:11q13.5
uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
NM_000260.4(MYO7A):c.471-2A>C single nucleotide variant Usher syndrome type 1 [RCV002463838] Chr11:77156658 [GRCh38]
Chr11:76867704 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6221C>A (p.Pro2074His) single nucleotide variant not provided [RCV003149296] Chr11:77211321 [GRCh38]
Chr11:76922366 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2444A>G (p.Gln815Arg) single nucleotide variant Inborn genetic diseases [RCV003302381] Chr11:77179811 [GRCh38]
Chr11:76890857 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.430A>T (p.Asn144Tyr) single nucleotide variant not provided [RCV002303352] Chr11:77156051 [GRCh38]
Chr11:76867097 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4253C>G (p.Pro1418Arg) single nucleotide variant not provided [RCV002837877] Chr11:77194454 [GRCh38]
Chr11:76905499 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5073G>A (p.Arg1691=) single nucleotide variant not provided [RCV002681235] Chr11:77202329 [GRCh38]
Chr11:76913374 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2221G>A (p.Asp741Asn) single nucleotide variant Auditory neuropathy [RCV003484412]|not provided [RCV003234458] Chr11:77177582 [GRCh38]
Chr11:76888628 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.1039C>A (p.Leu347Ile) single nucleotide variant not provided [RCV003131660] Chr11:77159482 [GRCh38]
Chr11:76870528 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2116del (p.Gln706fs) deletion Usher syndrome type 1 [RCV002308136] Chr11:77175392 [GRCh38]
Chr11:76886438 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2779del (p.Glu927fs) deletion Usher syndrome type 1 [RCV002308225] Chr11:77181463 [GRCh38]
Chr11:76892509 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs) insertion Usher syndrome type 1 [RCV002308278] Chr11:77181524..77181525 [GRCh38]
Chr11:76892570..76892571 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6307C>G (p.Leu2103Val) single nucleotide variant not provided [RCV002303457] Chr11:77211890 [GRCh38]
Chr11:76922935 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter) single nucleotide variant Usher syndrome type 1 [RCV002307334] Chr11:77162310 [GRCh38]
Chr11:76873356 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5398T>C (p.Phe1800Leu) single nucleotide variant not provided [RCV002300333] Chr11:77204147 [GRCh38]
Chr11:76915192 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter) single nucleotide variant Usher syndrome type 1 [RCV002308351] Chr11:77213000 [GRCh38]
Chr11:76924045 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter) single nucleotide variant Usher syndrome type 1 [RCV002309830] Chr11:77182044 [GRCh38]
Chr11:76893090 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter) single nucleotide variant Usher syndrome type 1 [RCV002309931] Chr11:77190725 [GRCh38]
Chr11:76901770 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter) single nucleotide variant Usher syndrome type 1 [RCV002308436] Chr11:77181428 [GRCh38]
Chr11:76892474 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1261C>A (p.Pro421Thr) single nucleotide variant not provided [RCV002299435] Chr11:77161033 [GRCh38]
Chr11:76872079 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3893G>A (p.Gly1298Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV002444392] Chr11:77190839 [GRCh38]
Chr11:76901884 [GRCh37]
Chr11:11q13.5
likely pathogenic|uncertain significance
NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter) single nucleotide variant Usher syndrome type 1 [RCV002308409] Chr11:77162124 [GRCh38]
Chr11:76873170 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.83_84del (p.Val28fs) deletion Usher syndrome type 1 [RCV002306798] Chr11:77142772..77142773 [GRCh38]
Chr11:76853818..76853819 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.602del (p.Asn201fs) deletion Usher syndrome type 1 [RCV002307016] Chr11:77156870 [GRCh38]
Chr11:76867916 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter) single nucleotide variant Usher syndrome type 1 [RCV002306622] Chr11:77157345 [GRCh38]
Chr11:76868391 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3325C>A (p.His1109Asn) single nucleotide variant not provided [RCV002296858] Chr11:77183107 [GRCh38]
Chr11:76894152 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5994G>T (p.Trp1998Cys) single nucleotide variant not provided [RCV002296798] Chr11:77208746 [GRCh38]
Chr11:76919791 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3023A>G (p.Tyr1008Cys) single nucleotide variant not provided [RCV002308801] Chr11:77182069 [GRCh38]
Chr11:76893115 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs) deletion Usher syndrome type 1 [RCV002306887] Chr11:77162881..77162882 [GRCh38]
Chr11:76873927..76873928 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs) deletion Usher syndrome type 1 [RCV002306905] Chr11:77172880..77172881 [GRCh38]
Chr11:76883926..76883927 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter) single nucleotide variant Usher syndrome type 1 [RCV002307014] Chr11:77179792 [GRCh38]
Chr11:76890838 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1069T>A (p.Ser357Thr) single nucleotide variant not provided [RCV002299242] Chr11:77159512 [GRCh38]
Chr11:76870558 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2441del (p.Arg814fs) deletion Usher syndrome type 1 [RCV002307942] Chr11:77179808 [GRCh38]
Chr11:76890854 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs) duplication Usher syndrome type 1 [RCV002306829] Chr11:77147939..77147940 [GRCh38]
Chr11:76858985..76858986 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs) indel Usher syndrome type 1 [RCV002306842] Chr11:77174897..77174898 [GRCh38]
Chr11:76885943..76885944 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter) single nucleotide variant Usher syndrome type 1 [RCV002308117] Chr11:77197520 [GRCh38]
Chr11:76908565 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3612_3615del (p.Ser1205fs) deletion Autosomal recessive nonsyndromic hearing loss 2 [RCV002444393] Chr11:77189450..77189453 [GRCh38]
Chr11:76900495..76900498 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2253del (p.Gln752fs) deletion Usher syndrome type 1 [RCV002306856] Chr11:77177613 [GRCh38]
Chr11:76888659 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic
NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter) single nucleotide variant Usher syndrome type 1 [RCV002306899] Chr11:77212952 [GRCh38]
Chr11:76923997 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4528G>A (p.Glu1510Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV002444394] Chr11:77198581 [GRCh38]
Chr11:76909626 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs) insertion Usher syndrome type 1 [RCV002307245] Chr11:77175414..77175415 [GRCh38]
Chr11:76886460..76886461 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter) single nucleotide variant Usher syndrome type 1 [RCV002309015] Chr11:77203166 [GRCh38]
Chr11:76914211 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter) single nucleotide variant Usher syndrome type 1 [RCV002309087] Chr11:77156737 [GRCh38]
Chr11:76867783 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5692A>G (p.Lys1898Glu) single nucleotide variant not provided [RCV002294790] Chr11:77206152 [GRCh38]
Chr11:76917197 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs) deletion Usher syndrome type 1 [RCV002307862] Chr11:77179942..77179943 [GRCh38]
Chr11:76890988..76890989 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2873G>A (p.Gly958Asp) single nucleotide variant not provided [RCV002302256] Chr11:77181558 [GRCh38]
Chr11:76892604 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter) single nucleotide variant Usher syndrome type 1 [RCV002309670] Chr11:77161009 [GRCh38]
Chr11:76872055 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.767del (p.Tyr256fs) deletion Usher syndrome type 1 [RCV002309892] Chr11:77157310 [GRCh38]
Chr11:76868356 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter) single nucleotide variant Usher syndrome type 1 [RCV002310071] Chr11:77174794 [GRCh38]
Chr11:76885840 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter) single nucleotide variant Usher syndrome type 1 [RCV002310329] Chr11:77203070 [GRCh38]
Chr11:76914115 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.379A>G (p.Ile127Val) single nucleotide variant not provided [RCV002299401] Chr11:77156000 [GRCh38]
Chr11:76867046 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter) single nucleotide variant Usher syndrome type 1 [RCV002308403] Chr11:77174909 [GRCh38]
Chr11:76885955 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs) deletion Usher syndrome type 1 [RCV002310439] Chr11:77179049..77179050 [GRCh38]
Chr11:76890095..76890096 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2648del (p.Glu883fs) deletion Usher syndrome type 1 [RCV002306470] Chr11:77180435 [GRCh38]
Chr11:76891481 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter) single nucleotide variant Usher syndrome type 1 [RCV002307033] Chr11:77162940 [GRCh38]
Chr11:76873986 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs) insertion Usher syndrome type 1 [RCV002307267] Chr11:77181387..77181388 [GRCh38]
Chr11:76892433..76892434 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5385C>T (p.Leu1795=) single nucleotide variant not provided [RCV002842050] Chr11:77204134 [GRCh38]
Chr11:76915179 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2566C>A (p.His856Asn) single nucleotide variant not provided [RCV002462521] Chr11:77179933 [GRCh38]
Chr11:76890979 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2206C>T (p.Leu736=) single nucleotide variant not provided [RCV002993692] Chr11:77177567 [GRCh38]
Chr11:76888613 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1081-10C>T single nucleotide variant not provided [RCV002880467] Chr11:77160153 [GRCh38]
Chr11:76871199 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2317C>T (p.Leu773=) single nucleotide variant not provided [RCV002771221] Chr11:77179079 [GRCh38]
Chr11:76890125 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5328T>C (p.Ala1776=) single nucleotide variant not provided [RCV002838455] Chr11:77204077 [GRCh38]
Chr11:76915122 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6558+1G>T single nucleotide variant not provided [RCV002681432] Chr11:77213980 [GRCh38]
Chr11:76925025 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2283-11T>A single nucleotide variant not provided [RCV002838336] Chr11:77179034 [GRCh38]
Chr11:76890080 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6300C>T (p.Phe2100=) single nucleotide variant not provided [RCV002815507] Chr11:77211883 [GRCh38]
Chr11:76922928 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3040del (p.Thr1014fs) deletion not provided [RCV002815961] Chr11:77182086 [GRCh38]
Chr11:76893132 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4590A>G (p.Ser1530=) single nucleotide variant not provided [RCV002903886] Chr11:77199556 [GRCh38]
Chr11:76910601 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2217G>T (p.Glu739Asp) single nucleotide variant not provided [RCV002726565] Chr11:77177578 [GRCh38]
Chr11:76888624 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6102G>A (p.Val2034=) single nucleotide variant not provided [RCV002838674] Chr11:77211202 [GRCh38]
Chr11:76922247 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5898T>C (p.Val1966=) single nucleotide variant not provided [RCV002861265] Chr11:77208471 [GRCh38]
Chr11:76919516 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6051+19_6051+20del deletion not provided [RCV002616424] Chr11:77208822..77208823 [GRCh38]
Chr11:76919867..76919868 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5659C>T (p.Pro1887Ser) single nucleotide variant not provided [RCV003015663] Chr11:77206119 [GRCh38]
Chr11:76917164 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6355-14A>T single nucleotide variant not provided [RCV002614817] Chr11:77212938 [GRCh38]
Chr11:76923983 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3625G>A (p.Val1209Ile) single nucleotide variant Inborn genetic diseases [RCV002860478] Chr11:77189465 [GRCh38]
Chr11:76900510 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5920A>C (p.Lys1974Gln) single nucleotide variant not provided [RCV003033061] Chr11:77208493 [GRCh38]
Chr11:76919538 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1147T>C (p.Ser383Pro) single nucleotide variant not provided [RCV002838798] Chr11:77160229 [GRCh38]
Chr11:76871275 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1798-13T>C single nucleotide variant not provided [RCV002615261] Chr11:77172735 [GRCh38]
Chr11:76883781 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3139C>T (p.Arg1047Cys) single nucleotide variant not provided [RCV003074091] Chr11:77182454 [GRCh38]
Chr11:76893499 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4441+16C>T single nucleotide variant not provided [RCV002971815] Chr11:77197614 [GRCh38]
Chr11:76908659 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2624C>A (p.Ala875Glu) single nucleotide variant not provided [RCV003074733] Chr11:77180411 [GRCh38]
Chr11:76891457 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3513C>G (p.Ile1171Met) single nucleotide variant not provided [RCV003077055] Chr11:77189353 [GRCh38]
Chr11:76900398 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3246G>C (p.Thr1082=) single nucleotide variant not provided [RCV003035214] Chr11:77182561 [GRCh38]
Chr11:76893606 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2031C>T (p.Ser677=) single nucleotide variant not provided [RCV003017646] Chr11:77174851 [GRCh38]
Chr11:76885897 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2625G>T (p.Ala875=) single nucleotide variant not provided [RCV002880557] Chr11:77180412 [GRCh38]
Chr11:76891458 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATG insertion not provided [RCV002462722] Chr11:77182389..77182390 [GRCh38]
Chr11:76893434..76893435 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5882T>A (p.Phe1961Tyr) single nucleotide variant not provided [RCV002820046] Chr11:77208455 [GRCh38]
Chr11:76919500 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3849C>T (p.Leu1283=) single nucleotide variant not provided [RCV003033777] Chr11:77190795 [GRCh38]
Chr11:76901840 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.735+9G>C single nucleotide variant not provided [RCV002866033] Chr11:77157013 [GRCh38]
Chr11:76868059 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2964G>A (p.Leu988=) single nucleotide variant not provided [RCV002819668] Chr11:77182010 [GRCh38]
Chr11:76893056 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4421A>T (p.Tyr1474Phe) single nucleotide variant not provided [RCV003034295] Chr11:77197578 [GRCh38]
Chr11:76908623 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2587-19G>T single nucleotide variant not provided [RCV003077020] Chr11:77180355 [GRCh38]
Chr11:76891401 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-2A>G single nucleotide variant not provided [RCV002995025] Chr11:77172746 [GRCh38]
Chr11:76883792 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2119C>T (p.Arg707Cys) single nucleotide variant not provided [RCV003075952] Chr11:77175396 [GRCh38]
Chr11:76886442 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2695-3C>T single nucleotide variant not provided [RCV003012436] Chr11:77181377 [GRCh38]
Chr11:76892423 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.290A>G (p.Tyr97Cys) single nucleotide variant not provided [RCV002908573] Chr11:77155911 [GRCh38]
Chr11:76866957 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6354+10G>C single nucleotide variant not provided [RCV002971485] Chr11:77211947 [GRCh38]
Chr11:76922992 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3140G>T (p.Arg1047Leu) single nucleotide variant not provided [RCV002815907] Chr11:77182455 [GRCh38]
Chr11:76893500 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.959A>G (p.Lys320Arg) single nucleotide variant not provided [RCV003076342] Chr11:77158386 [GRCh38]
Chr11:76869432 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2757T>C (p.Ala919=) single nucleotide variant not provided [RCV003033504] Chr11:77181442 [GRCh38]
Chr11:76892488 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5742+6G>A single nucleotide variant not provided [RCV003075895] Chr11:77206208 [GRCh38]
Chr11:76917253 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3059G>A (p.Arg1020Gln) single nucleotide variant Inborn genetic diseases [RCV002689389]|not provided [RCV003225259] Chr11:77182105 [GRCh38]
Chr11:76893151 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5696C>A (p.Thr1899Asn) single nucleotide variant not provided [RCV002613568] Chr11:77206156 [GRCh38]
Chr11:76917201 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1033G>A (p.Glu345Lys) single nucleotide variant not provided [RCV002461832] Chr11:77159476 [GRCh38]
Chr11:76870522 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3436C>T (p.Arg1146Trp) single nucleotide variant not provided [RCV003095844] Chr11:77184648 [GRCh38]
Chr11:76895693 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.975C>T (p.Ile325=) single nucleotide variant not provided [RCV003016472] Chr11:77158402 [GRCh38]
Chr11:76869448 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1201-20G>A single nucleotide variant not provided [RCV003077053] Chr11:77160953 [GRCh38]
Chr11:76871999 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5599G>T (p.Ala1867Ser) single nucleotide variant not provided [RCV002838268] Chr11:77205580 [GRCh38]
Chr11:76916625 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6629G>A (p.Gly2210Asp) single nucleotide variant not provided [RCV002508367] Chr11:77214677 [GRCh38]
Chr11:76925722 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.147T>A (p.Ser49=) single nucleotide variant not provided [RCV002994393] Chr11:77147812 [GRCh38]
Chr11:76858858 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6369A>C (p.Pro2123=) single nucleotide variant not provided [RCV002815358] Chr11:77212966 [GRCh38]
Chr11:76924011 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5346C>A (p.Gly1782=) single nucleotide variant not provided [RCV002971862] Chr11:77204095 [GRCh38]
Chr11:76915140 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5015C>G (p.Thr1672Ser) single nucleotide variant Inborn genetic diseases [RCV002841066] Chr11:77201610 [GRCh38]
Chr11:76912655 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6354+15T>G single nucleotide variant not provided [RCV002617438] Chr11:77211952 [GRCh38]
Chr11:76922997 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5636+5A>G single nucleotide variant not provided [RCV002967837] Chr11:77205622 [GRCh38]
Chr11:76916667 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5601C>T (p.Ala1867=) single nucleotide variant not provided [RCV003012053] Chr11:77205582 [GRCh38]
Chr11:76916627 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2889A>C (p.Ala963=) single nucleotide variant not provided [RCV003015888] Chr11:77181574 [GRCh38]
Chr11:76892620 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4267A>T (p.Thr1423Ser) single nucleotide variant not provided [RCV002615811] Chr11:77194468 [GRCh38]
Chr11:76905513 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1217T>C (p.Leu406Pro) single nucleotide variant not provided [RCV002971478] Chr11:77160989 [GRCh38]
Chr11:76872035 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5754G>A (p.Val1918=) single nucleotide variant not provided [RCV003034012] Chr11:77207300 [GRCh38]
Chr11:76918345 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4571A>T (p.Glu1524Val) single nucleotide variant not provided [RCV003075512] Chr11:77199537 [GRCh38]
Chr11:76910582 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.84G>A (p.Val28=) single nucleotide variant not provided [RCV002968022] Chr11:77142774 [GRCh38]
Chr11:76853820 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5358del (p.Lys1787fs) deletion not provided [RCV003013273] Chr11:77204106 [GRCh38]
Chr11:76915151 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5760C>A (p.Ser1920=) single nucleotide variant not provided [RCV002837922] Chr11:77207306 [GRCh38]
Chr11:76918351 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5672A>C (p.Glu1891Ala) single nucleotide variant not provided [RCV002842200] Chr11:77206132 [GRCh38]
Chr11:76917177 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3630+12C>T single nucleotide variant not provided [RCV002731446] Chr11:77189482 [GRCh38]
Chr11:76900527 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.325C>T (p.Gln109Ter) single nucleotide variant not provided [RCV002816439] Chr11:77155946 [GRCh38]
Chr11:76866992 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.593-1G>A single nucleotide variant not provided [RCV002880699] Chr11:77156861 [GRCh38]
Chr11:76867907 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.395C>G (p.Pro132Arg) single nucleotide variant Inborn genetic diseases [RCV002728002] Chr11:77156016 [GRCh38]
Chr11:76867062 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3474C>A (p.Ile1158=) single nucleotide variant not provided [RCV002881190] Chr11:77184686 [GRCh38]
Chr11:76895731 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5035G>T (p.Glu1679Ter) single nucleotide variant not provided [RCV002991631] Chr11:77201630 [GRCh38]
Chr11:76912675 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.198C>T (p.Gly66=) single nucleotide variant not provided [RCV002686350] Chr11:77147863 [GRCh38]
Chr11:76858909 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1343+6G>C single nucleotide variant not provided [RCV002881261] Chr11:77161121 [GRCh38]
Chr11:76872167 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6598C>T (p.Gln2200Ter) single nucleotide variant not provided [RCV003033182] Chr11:77214646 [GRCh38]
Chr11:76925691 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4487C>T (p.Thr1496Met) single nucleotide variant not provided [RCV003074042] Chr11:77198540 [GRCh38]
Chr11:76909585 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3924+15A>T single nucleotide variant not provided [RCV002776526] Chr11:77190885 [GRCh38]
Chr11:76901930 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.4653G>A (p.Ala1551=) single nucleotide variant not provided [RCV003076685] Chr11:77199619 [GRCh38]
Chr11:76910664 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1754G>A (p.Arg585Lys) single nucleotide variant not provided [RCV002617787] Chr11:77166119 [GRCh38]
Chr11:76877165 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5636+20C>T single nucleotide variant not provided [RCV003034081] Chr11:77205637 [GRCh38]
Chr11:76916682 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5933C>A (p.Pro1978His) single nucleotide variant Inborn genetic diseases [RCV002879816] Chr11:77208506 [GRCh38]
Chr11:76919551 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4008G>A (p.Gln1336=) single nucleotide variant not provided [RCV002996817] Chr11:77192134 [GRCh38]
Chr11:76903179 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6369A>T (p.Pro2123=) single nucleotide variant not provided [RCV002903902] Chr11:77212966 [GRCh38]
Chr11:76924011 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3063A>C (p.Pro1021=) single nucleotide variant not provided [RCV002731080] Chr11:77182109 [GRCh38]
Chr11:76893155 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5856+4G>A single nucleotide variant not provided [RCV003016963] Chr11:77207406 [GRCh38]
Chr11:76918451 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3750+10T>C single nucleotide variant not provided [RCV002843101] Chr11:77190149 [GRCh38]
Chr11:76901194 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4419T>C (p.Phe1473=) single nucleotide variant not provided [RCV002975325] Chr11:77197576 [GRCh38]
Chr11:76908621 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.211_215dup (p.Leu73fs) duplication not provided [RCV002861378] Chr11:77147874..77147875 [GRCh38]
Chr11:76858920..76858921 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.790dup (p.Glu264fs) duplication not provided [RCV002881037] Chr11:77157332..77157333 [GRCh38]
Chr11:76868378..76868379 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5044-6C>T single nucleotide variant not provided [RCV002685884] Chr11:77202294 [GRCh38]
Chr11:76913339 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2586+18T>C single nucleotide variant not provided [RCV003076117] Chr11:77179971 [GRCh38]
Chr11:76891017 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5467G>A (p.Asp1823Asn) single nucleotide variant not provided [RCV003076824] Chr11:77204216 [GRCh38]
Chr11:76915261 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5263G>T (p.Ala1755Ser) single nucleotide variant not provided [RCV003076349] Chr11:77203154 [GRCh38]
Chr11:76914199 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3664_3673del (p.Gly1222fs) deletion not provided [RCV002861568] Chr11:77190048..77190057 [GRCh38]
Chr11:76901093..76901102 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3108+7C>A single nucleotide variant not provided [RCV003033897] Chr11:77182161 [GRCh38]
Chr11:76893207 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3180C>T (p.Ala1060=) single nucleotide variant not provided [RCV003034707] Chr11:77182495 [GRCh38]
Chr11:76893540 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4012C>T (p.Arg1338Cys) single nucleotide variant not provided [RCV003075509] Chr11:77192138 [GRCh38]
Chr11:76903183 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.114G>C (p.Val38=) single nucleotide variant not provided [RCV002863606] Chr11:77142804 [GRCh38]
Chr11:76853850 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2554G>T (p.Ala852Ser) single nucleotide variant not provided [RCV003014970] Chr11:77179921 [GRCh38]
Chr11:76890967 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6168C>T (p.Ile2056=) single nucleotide variant not provided [RCV003034520] Chr11:77211268 [GRCh38]
Chr11:76922313 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4893C>A (p.Asp1631Glu) single nucleotide variant not provided [RCV003074313] Chr11:77201488 [GRCh38]
Chr11:76912533 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3018C>T (p.Ala1006=) single nucleotide variant not provided [RCV002591014] Chr11:77182064 [GRCh38]
Chr11:76893110 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6284A>C (p.Glu2095Ala) single nucleotide variant not provided [RCV002571091] Chr11:77211867 [GRCh38]
Chr11:76922912 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6071G>A (p.Arg2024Gln) single nucleotide variant not provided [RCV003081333] Chr11:77211171 [GRCh38]
Chr11:76922216 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.229A>C (p.Asn77His) single nucleotide variant not provided [RCV002640617] Chr11:77147894 [GRCh38]
Chr11:76858940 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.807_808del (p.Lys269fs) deletion not provided [RCV002871492] Chr11:77157350..77157351 [GRCh38]
Chr11:76868396..76868397 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2825_2833del (p.Met942_Asp944del) deletion not provided [RCV003003221] Chr11:77181506..77181514 [GRCh38]
Chr11:76892552..76892560 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.150G>A (p.Pro50=) single nucleotide variant not provided [RCV003039638] Chr11:77147815 [GRCh38]
Chr11:76858861 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.879G>T (p.Val293=) single nucleotide variant not provided [RCV002740313] Chr11:77158306 [GRCh38]
Chr11:76869352 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4248C>T (p.Tyr1416=) single nucleotide variant not provided [RCV002998720] Chr11:77194449 [GRCh38]
Chr11:76905494 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.799AAG[2] (p.Lys269del) microsatellite not provided [RCV003037418] Chr11:77157340..77157342 [GRCh38]
Chr11:76868386..76868388 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3504-19T>G single nucleotide variant not provided [RCV003039431] Chr11:77189325 [GRCh38]
Chr11:76900370 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6052-15C>T single nucleotide variant not provided [RCV003054705] Chr11:77211137 [GRCh38]
Chr11:76922182 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2535C>T (p.Ala845=) single nucleotide variant not provided [RCV002871335] Chr11:77179902 [GRCh38]
Chr11:76890948 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4756A>G (p.Asn1586Asp) single nucleotide variant Inborn genetic diseases [RCV002784749] Chr11:77199722 [GRCh38]
Chr11:76910767 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6387C>T (p.Leu2129=) single nucleotide variant not provided [RCV002889787] Chr11:77212984 [GRCh38]
Chr11:76924029 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.428T>G (p.Phe143Cys) single nucleotide variant not provided [RCV003053100] Chr11:77156049 [GRCh38]
Chr11:76867095 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3119C>T (p.Ala1040Val) single nucleotide variant not provided [RCV002662939] Chr11:77182434 [GRCh38]
Chr11:76893479 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1827A>G (p.Thr609=) single nucleotide variant not provided [RCV003039554] Chr11:77172777 [GRCh38]
Chr11:76883823 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6130del (p.Val2044fs) deletion not provided [RCV003039412] Chr11:77211228 [GRCh38]
Chr11:76922273 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1776C>G (p.Ile592Met) single nucleotide variant not provided [RCV003038057] Chr11:77166141 [GRCh38]
Chr11:76877187 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.344C>T (p.Ser115Leu) single nucleotide variant not provided [RCV003081425] Chr11:77155965 [GRCh38]
Chr11:76867011 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1190C>T (p.Ala397Val) single nucleotide variant not provided [RCV002622835] Chr11:77160272 [GRCh38]
Chr11:76871318 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1820C>T (p.Ser607Leu) single nucleotide variant not provided [RCV002785681] Chr11:77172770 [GRCh38]
Chr11:76883816 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2732G>A (p.Arg911Gln) single nucleotide variant Inborn genetic diseases [RCV003081429]|not provided [RCV003081428] Chr11:77181417 [GRCh38]
Chr11:76892463 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_000260.4(MYO7A):c.2834A>C (p.Lys945Thr) single nucleotide variant not provided [RCV003021790] Chr11:77181519 [GRCh38]
Chr11:76892565 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1713C>T (p.Asp571=) single nucleotide variant not provided [RCV002740083] Chr11:77166078 [GRCh38]
Chr11:76877124 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.593-7T>C single nucleotide variant not provided [RCV003035361] Chr11:77156855 [GRCh38]
Chr11:76867901 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3109-6C>T single nucleotide variant not provided [RCV002824066] Chr11:77182418 [GRCh38]
Chr11:76893463 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3346C>T (p.Leu1116=) single nucleotide variant not provided [RCV003021655] Chr11:77183128 [GRCh38]
Chr11:76894173 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.633C>T (p.Ser211=) single nucleotide variant not provided [RCV002663025] Chr11:77156902 [GRCh38]
Chr11:76867948 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6237+20C>T single nucleotide variant not provided [RCV002695602] Chr11:77211357 [GRCh38]
Chr11:76922402 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1809C>T (p.Thr603=) single nucleotide variant not provided [RCV003036742] Chr11:77172759 [GRCh38]
Chr11:76883805 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3531G>A (p.Lys1177=) single nucleotide variant not provided [RCV002570198] Chr11:77189371 [GRCh38]
Chr11:76900416 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5743-19T>C single nucleotide variant not provided [RCV002622832] Chr11:77207270 [GRCh38]
Chr11:76918315 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4968C>A (p.Thr1656=) single nucleotide variant not provided [RCV003055351] Chr11:77201563 [GRCh38]
Chr11:76912608 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.396C>G (p.Pro132=) single nucleotide variant not provided [RCV002889581] Chr11:77156017 [GRCh38]
Chr11:76867063 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6238-4dup duplication not provided [RCV002889496] Chr11:77211816..77211817 [GRCh38]
Chr11:76922861..76922862 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3672C>T (p.Ala1224=) single nucleotide variant not provided [RCV002825381] Chr11:77190061 [GRCh38]
Chr11:76901106 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2694+16C>T single nucleotide variant not provided [RCV002824021] Chr11:77180497 [GRCh38]
Chr11:76891543 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5457G>A (p.Lys1819=) single nucleotide variant not provided [RCV003018763] Chr11:77204206 [GRCh38]
Chr11:76915251 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1342A>C (p.Ser448Arg) single nucleotide variant not provided [RCV002885692] Chr11:77161114 [GRCh38]
Chr11:76872160 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4096C>T (p.Leu1366Phe) single nucleotide variant not provided [RCV002705277] Chr11:77192222 [GRCh38]
Chr11:76903267 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.316A>C (p.Asn106His) single nucleotide variant Inborn genetic diseases [RCV002868779] Chr11:77155937 [GRCh38]
Chr11:76866983 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2282+1G>A single nucleotide variant not provided [RCV002909331] Chr11:77177644 [GRCh38]
Chr11:76888690 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2285C>T (p.Ser762Phe) single nucleotide variant not provided [RCV003078403] Chr11:77179047 [GRCh38]
Chr11:76890093 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.348_349insCCCA (p.Glu117fs) insertion not provided [RCV002885602] Chr11:77155966..77155967 [GRCh38]
Chr11:76867012..76867013 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2831A>T (p.Asp944Val) single nucleotide variant not provided [RCV002705616] Chr11:77181516 [GRCh38]
Chr11:76892562 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3924+10CCCGGAAGCACCTCCT[4] microsatellite not provided [RCV002868049] Chr11:77190879..77190880 [GRCh38]
Chr11:76901924..76901925 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1691-3C>T single nucleotide variant not provided [RCV002621339] Chr11:77166053 [GRCh38]
Chr11:76877099 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3751-7C>A single nucleotide variant not provided [RCV002824154] Chr11:77190690 [GRCh38]
Chr11:76901735 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.447C>A (p.Ser149Arg) single nucleotide variant not provided [RCV002979385] Chr11:77156068 [GRCh38]
Chr11:76867114 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2282+4C>T single nucleotide variant not provided [RCV003077875] Chr11:77177647 [GRCh38]
Chr11:76888693 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6051+17T>G single nucleotide variant not provided [RCV002926678] Chr11:77208820 [GRCh38]
Chr11:76919865 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2991T>C (p.Ser997=) single nucleotide variant not provided [RCV002885200] Chr11:77182037 [GRCh38]
Chr11:76893083 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1738C>T (p.Leu580=) single nucleotide variant not provided [RCV002659308] Chr11:77166103 [GRCh38]
Chr11:76877149 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4239G>A (p.Val1413=) single nucleotide variant not provided [RCV002796303] Chr11:77194440 [GRCh38]
Chr11:76905485 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.489G>C (p.Gly163=) single nucleotide variant not provided [RCV003036619] Chr11:77156678 [GRCh38]
Chr11:76867724 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly) single nucleotide variant not provided [RCV003037417] Chr11:77156990 [GRCh38]
Chr11:76868036 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3904del (p.Tyr1302fs) deletion not provided [RCV003037419] Chr11:77190850 [GRCh38]
Chr11:76901895 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4814C>A (p.Ser1605Tyr) single nucleotide variant not provided [RCV003037421] Chr11:77199780 [GRCh38]
Chr11:76910825 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3109-4C>G single nucleotide variant not provided [RCV002795234] Chr11:77182420 [GRCh38]
Chr11:76893465 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1123C>T (p.Leu375Phe) single nucleotide variant not provided [RCV002620210] Chr11:77160205 [GRCh38]
Chr11:76871251 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1477C>G (p.Gln493Glu) single nucleotide variant not provided [RCV002620460] Chr11:77162253 [GRCh38]
Chr11:76873299 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5488G>A (p.Glu1830Lys) single nucleotide variant not provided [RCV003077194] Chr11:77205469 [GRCh38]
Chr11:76916514 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5544C>T (p.Asn1848=) single nucleotide variant not provided [RCV003019572] Chr11:77205525 [GRCh38]
Chr11:76916570 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4610G>A (p.Gly1537Asp) single nucleotide variant not provided [RCV002844008] Chr11:77199576 [GRCh38]
Chr11:76910621 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1425G>A (p.Glu475=) single nucleotide variant not provided [RCV003019075] Chr11:77162201 [GRCh38]
Chr11:76873247 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1497T>C (p.Ile499=) single nucleotide variant not provided [RCV002620075] Chr11:77162273 [GRCh38]
Chr11:76873319 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1533T>C (p.Asp511=) single nucleotide variant not provided [RCV002620076] Chr11:77162309 [GRCh38]
Chr11:76873355 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3286-4G>T single nucleotide variant not provided [RCV002736539] Chr11:77183064 [GRCh38]
Chr11:76894109 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4113G>A (p.Val1371=) single nucleotide variant not provided [RCV002847826] Chr11:77192239 [GRCh38]
Chr11:76903284 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.956C>T (p.Ser319Leu) single nucleotide variant not provided [RCV002658921] Chr11:77158383 [GRCh38]
Chr11:76869429 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.399C>G (p.His133Gln) single nucleotide variant not provided [RCV002796330] Chr11:77156020 [GRCh38]
Chr11:76867066 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6087C>T (p.Cys2029=) single nucleotide variant not provided [RCV002620146] Chr11:77211187 [GRCh38]
Chr11:76922232 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1004-1G>A single nucleotide variant not provided [RCV003052811] Chr11:77159446 [GRCh38]
Chr11:76870492 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.19G>C (p.Gly7Arg) single nucleotide variant not provided [RCV002590506] Chr11:77142709 [GRCh38]
Chr11:76853755 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5196T>C (p.Arg1732=) single nucleotide variant not provided [RCV003037679] Chr11:77203087 [GRCh38]
Chr11:76914132 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6555A>G (p.Ser2185=) single nucleotide variant not provided [RCV003080381] Chr11:77213976 [GRCh38]
Chr11:76925021 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2109G>A (p.Gly703=) single nucleotide variant not provided [RCV002640101] Chr11:77175386 [GRCh38]
Chr11:76886432 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4819T>C (p.Tyr1607His) single nucleotide variant not provided [RCV002780472] Chr11:77199785 [GRCh38]
Chr11:76910830 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2263A>G (p.Ile755Val) single nucleotide variant not provided [RCV003078152] Chr11:77177624 [GRCh38]
Chr11:76888670 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3266C>A (p.Ala1089Asp) single nucleotide variant not provided [RCV002569758] Chr11:77182581 [GRCh38]
Chr11:76893626 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4848C>T (p.Asn1616=) single nucleotide variant not provided [RCV002569760] Chr11:77199814 [GRCh38]
Chr11:76910859 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-6C>T single nucleotide variant not provided [RCV003077468] Chr11:77172742 [GRCh38]
Chr11:76883788 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5617C>A (p.Arg1873=) single nucleotide variant not provided [RCV002695860] Chr11:77205598 [GRCh38]
Chr11:76916643 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2562G>C (p.Arg854Ser) single nucleotide variant not provided [RCV002800040] Chr11:77179929 [GRCh38]
Chr11:76890975 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2250C>T (p.Leu750=) single nucleotide variant not provided [RCV002999780] Chr11:77177611 [GRCh38]
Chr11:76888657 [GRCh37]
Chr11:11q13.5
likely benign
NC_000011.10:g.77181959_77181994dup duplication not provided [RCV002705866] Chr11:77181948..77181949 [GRCh38]
Chr11:76892994..76892995 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3405C>T (p.Ser1135=) single nucleotide variant not provided [RCV002926699] Chr11:77184617 [GRCh38]
Chr11:76895662 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1822C>T (p.Pro608Ser) single nucleotide variant not provided [RCV002795149] Chr11:77172772 [GRCh38]
Chr11:76883818 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5918T>C (p.Ile1973Thr) single nucleotide variant not provided [RCV003038625] Chr11:77208491 [GRCh38]
Chr11:76919536 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.149C>A (p.Pro50Gln) single nucleotide variant not provided [RCV002781283] Chr11:77147814 [GRCh38]
Chr11:76858860 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.30G>A (p.Val10=) single nucleotide variant not provided [RCV002913280] Chr11:77142720 [GRCh38]
Chr11:76853766 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2787G>T (p.Met929Ile) single nucleotide variant not provided [RCV002761589] Chr11:77181472 [GRCh38]
Chr11:76892518 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2557C>A (p.Arg853Ser) single nucleotide variant not provided [RCV002735023] Chr11:77179924 [GRCh38]
Chr11:76890970 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1554+4G>A single nucleotide variant not provided [RCV003077250] Chr11:77162334 [GRCh38]
Chr11:76873380 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4636G>C (p.Ala1546Pro) single nucleotide variant not provided [RCV002884981] Chr11:77199602 [GRCh38]
Chr11:76910647 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.275A>G (p.His92Arg) single nucleotide variant not provided [RCV002999874] Chr11:77147940 [GRCh38]
Chr11:76858986 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1023G>C (p.Leu341=) single nucleotide variant not provided [RCV002695570] Chr11:77159466 [GRCh38]
Chr11:76870512 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3340T>C (p.Leu1114=) single nucleotide variant not provided [RCV003038847] Chr11:77183122 [GRCh38]
Chr11:76894167 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.209T>C (p.Met70Thr) single nucleotide variant not provided [RCV002760820] Chr11:77147874 [GRCh38]
Chr11:76858920 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1343+16C>T single nucleotide variant not provided [RCV002780459] Chr11:77161131 [GRCh38]
Chr11:76872177 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.156C>A (p.Asn52Lys) single nucleotide variant not provided [RCV002735186] Chr11:77147821 [GRCh38]
Chr11:76858867 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3412C>T (p.Gln1138Ter) single nucleotide variant not provided [RCV002848023] Chr11:77184624 [GRCh38]
Chr11:76895669 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3285+5G>T single nucleotide variant not provided [RCV002591843] Chr11:77182605 [GRCh38]
Chr11:76893650 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1848G>A (p.Arg616=) single nucleotide variant not provided [RCV003021350] Chr11:77172798 [GRCh38]
Chr11:76883844 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6052-10_6052-5del deletion not provided [RCV002662671] Chr11:77211137..77211142 [GRCh38]
Chr11:76922182..76922187 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4555G>A (p.Val1519Met) single nucleotide variant not provided [RCV002976052] Chr11:77198608 [GRCh38]
Chr11:76909653 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-8C>A single nucleotide variant not provided [RCV002846960] Chr11:77172740 [GRCh38]
Chr11:76883786 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3859C>G (p.Leu1287Val) single nucleotide variant not provided [RCV002639372] Chr11:77190805 [GRCh38]
Chr11:76901850 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2187+13G>A single nucleotide variant not provided [RCV003018239] Chr11:77175477 [GRCh38]
Chr11:76886523 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4688C>T (p.Ala1563Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV003389086]|Inborn genetic diseases [RCV003078337]|not provided [RCV003093404] Chr11:77199654 [GRCh38]
Chr11:76910699 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1525C>T (p.Leu509Phe) single nucleotide variant not provided [RCV002592873] Chr11:77162301 [GRCh38]
Chr11:76873347 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1798-4C>G single nucleotide variant not provided [RCV002636768] Chr11:77172744 [GRCh38]
Chr11:76883790 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4059C>T (p.Pro1353=) single nucleotide variant not provided [RCV002620077] Chr11:77192185 [GRCh38]
Chr11:76903230 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3846G>A (p.Glu1282=) single nucleotide variant not provided [RCV002569524] Chr11:77190792 [GRCh38]
Chr11:76901837 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5854A>T (p.Lys1952Ter) single nucleotide variant not provided [RCV003054545] Chr11:77207400 [GRCh38]
Chr11:76918445 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1699G>A (p.Glu567Lys) single nucleotide variant not provided [RCV002640051] Chr11:77166064 [GRCh38]
Chr11:76877110 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3896T>C (p.Phe1299Ser) single nucleotide variant not provided [RCV002846521] Chr11:77190842 [GRCh38]
Chr11:76901887 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.649A>G (p.Ile217Val) single nucleotide variant not provided [RCV002785409] Chr11:77156918 [GRCh38]
Chr11:76867964 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3094G>A (p.Glu1032Lys) single nucleotide variant not provided [RCV002619513] Chr11:77182140 [GRCh38]
Chr11:76893186 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3698G>A (p.Arg1233Lys) single nucleotide variant not provided [RCV002510011] Chr11:77190087 [GRCh38]
Chr11:76901132 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6565A>C (p.Lys2189Gln) single nucleotide variant not provided [RCV002796643] Chr11:77214613 [GRCh38]
Chr11:76925658 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4712C>T (p.Thr1571Met) single nucleotide variant Inborn genetic diseases [RCV002868613] Chr11:77199678 [GRCh38]
Chr11:76910723 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2951C>T (p.Ala984Val) single nucleotide variant not provided [RCV002569778] Chr11:77181997 [GRCh38]
Chr11:76893043 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3588T>C (p.Ser1196=) single nucleotide variant not provided [RCV003055228] Chr11:77189428 [GRCh38]
Chr11:76900473 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3634C>T (p.Leu1212=) single nucleotide variant not provided [RCV002797367] Chr11:77190023 [GRCh38]
Chr11:76901068 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2533_2534del (p.Ala845fs) deletion not provided [RCV002889215] Chr11:77179900..77179901 [GRCh38]
Chr11:76890946..76890947 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1746C>T (p.His582=) single nucleotide variant not provided [RCV003055124] Chr11:77166111 [GRCh38]
Chr11:76877157 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1332T>C (p.Phe444=) single nucleotide variant not provided [RCV003035906] Chr11:77161104 [GRCh38]
Chr11:76872150 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-4C>T single nucleotide variant not provided [RCV002659026] Chr11:77172744 [GRCh38]
Chr11:76883790 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5168G>A (p.Arg1723Lys) single nucleotide variant not provided [RCV002760289] Chr11:77202424 [GRCh38]
Chr11:76913469 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6051+11C>G single nucleotide variant not provided [RCV002927272] Chr11:77208814 [GRCh38]
Chr11:76919859 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4175C>A (p.Ala1392Asp) single nucleotide variant not provided [RCV003038452] Chr11:77194376 [GRCh38]
Chr11:76905421 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6354+8A>G single nucleotide variant not provided [RCV002866209] Chr11:77211945 [GRCh38]
Chr11:76922990 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3392A>G (p.His1131Arg) single nucleotide variant not provided [RCV002619708] Chr11:77184604 [GRCh38]
Chr11:76895649 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.735+5G>A single nucleotide variant not provided [RCV002847083] Chr11:77157009 [GRCh38]
Chr11:76868055 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1004-7C>G single nucleotide variant not provided [RCV002909330] Chr11:77159440 [GRCh38]
Chr11:76870486 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1622C>A (p.Pro541His) single nucleotide variant not provided [RCV003100586] Chr11:77162920 [GRCh38]
Chr11:76873966 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4153-5C>A single nucleotide variant not provided [RCV002851369] Chr11:77194349 [GRCh38]
Chr11:76905394 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.660C>T (p.His220=) single nucleotide variant not provided [RCV003005686] Chr11:77156929 [GRCh38]
Chr11:76867975 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.805A>C (p.Lys269Gln) single nucleotide variant not provided [RCV002575252] Chr11:77157348 [GRCh38]
Chr11:76868394 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3345T>C (p.Thr1115=) single nucleotide variant not provided [RCV002852318] Chr11:77183127 [GRCh38]
Chr11:76894172 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2480A>T (p.Tyr827Phe) single nucleotide variant not provided [RCV002828797] Chr11:77179847 [GRCh38]
Chr11:76890893 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.286-18A>T single nucleotide variant not provided [RCV002766732] Chr11:77155889 [GRCh38]
Chr11:76866935 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.768C>T (p.Tyr256=) single nucleotide variant not provided [RCV002829437] Chr11:77157311 [GRCh38]
Chr11:76868357 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5636+4C>T single nucleotide variant not provided [RCV002875552] Chr11:77205621 [GRCh38]
Chr11:76916666 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1623C>A (p.Pro541=) single nucleotide variant not provided [RCV002932238] Chr11:77162921 [GRCh38]
Chr11:76873967 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2593_2602del (p.Trp865fs) deletion not provided [RCV002830049] Chr11:77180379..77180388 [GRCh38]
Chr11:76891425..76891434 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.604del (p.Ala202fs) deletion not provided [RCV002745229] Chr11:77156873 [GRCh38]
Chr11:76867919 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6342C>T (p.Phe2114=) single nucleotide variant not provided [RCV003059740] Chr11:77211925 [GRCh38]
Chr11:76922970 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5856+17C>T single nucleotide variant not provided [RCV002701313] Chr11:77207419 [GRCh38]
Chr11:76918464 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6609A>G (p.Thr2203=) single nucleotide variant not provided [RCV002740863] Chr11:77214657 [GRCh38]
Chr11:76925702 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5389G>A (p.Asp1797Asn) single nucleotide variant not provided [RCV002918917] Chr11:77204138 [GRCh38]
Chr11:76915183 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4569-17G>A single nucleotide variant not provided [RCV002597316] Chr11:77199518 [GRCh38]
Chr11:76910563 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5170C>A (p.Pro1724Thr) single nucleotide variant not provided [RCV002918509] Chr11:77203061 [GRCh38]
Chr11:76914106 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2109G>T (p.Gly703=) single nucleotide variant not provided [RCV002876742] Chr11:77175386 [GRCh38]
Chr11:76886432 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.516G>A (p.Leu172=) single nucleotide variant not provided [RCV003040085] Chr11:77156705 [GRCh38]
Chr11:76867751 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4371T>C (p.Asp1457=) single nucleotide variant not provided [RCV003040090] Chr11:77197528 [GRCh38]
Chr11:76908573 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1046C>G (p.Ser349Cys) single nucleotide variant not provided [RCV002805841] Chr11:77159489 [GRCh38]
Chr11:76870535 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1074G>A (p.Leu358=) single nucleotide variant not provided [RCV002876446] Chr11:77159517 [GRCh38]
Chr11:76870563 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2725G>A (p.Ala909Thr) single nucleotide variant Inborn genetic diseases [RCV003170703]|not provided [RCV002929200] Chr11:77181410 [GRCh38]
Chr11:76892456 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5044-5C>T single nucleotide variant not provided [RCV002802087] Chr11:77202295 [GRCh38]
Chr11:76913340 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4441+15G>A single nucleotide variant not provided [RCV002742008] Chr11:77197613 [GRCh38]
Chr11:76908658 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1052C>T (p.Ser351Leu) single nucleotide variant not provided [RCV002958874] Chr11:77159495 [GRCh38]
Chr11:76870541 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5208C>T (p.Ser1736=) single nucleotide variant not provided [RCV002576070] Chr11:77203099 [GRCh38]
Chr11:76914144 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5340C>G (p.Tyr1780Ter) single nucleotide variant not provided [RCV002853225] Chr11:77204089 [GRCh38]
Chr11:76915134 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1104C>T (p.Ser368=) single nucleotide variant not provided [RCV003043385] Chr11:77160186 [GRCh38]
Chr11:76871232 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.551G>A (p.Trp184Ter) single nucleotide variant not provided [RCV003042882] Chr11:77156740 [GRCh38]
Chr11:76867786 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.671G>A (p.Arg224Gln) single nucleotide variant not provided [RCV002958326] Chr11:77156940 [GRCh38]
Chr11:76867986 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2283-7G>A single nucleotide variant not provided [RCV003008227] Chr11:77179038 [GRCh38]
Chr11:76890084 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.984G>A (p.Leu328=) single nucleotide variant not provided [RCV002766221] Chr11:77158411 [GRCh38]
Chr11:76869457 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.4161C>T (p.Asp1387=) single nucleotide variant not provided [RCV003082672] Chr11:77194362 [GRCh38]
Chr11:76905407 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6387C>G (p.Leu2129=) single nucleotide variant not provided [RCV002891194] Chr11:77212984 [GRCh38]
Chr11:76924029 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1634A>G (p.His545Arg) single nucleotide variant Inborn genetic diseases [RCV003294411]|not provided [RCV003058392] Chr11:77162932 [GRCh38]
Chr11:76873978 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6050_6051+9del deletion not provided [RCV002663934] Chr11:77208799..77208809 [GRCh38]
Chr11:76919844..76919854 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4687G>A (p.Ala1563Thr) single nucleotide variant not provided [RCV003056951] Chr11:77199653 [GRCh38]
Chr11:76910698 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3573C>A (p.Gly1191=) single nucleotide variant not provided [RCV003005589] Chr11:77189413 [GRCh38]
Chr11:76900458 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6290del (p.Lys2097fs) deletion not provided [RCV003040462] Chr11:77211872 [GRCh38]
Chr11:76922917 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2046G>A (p.Val682=) single nucleotide variant not provided [RCV003082959] Chr11:77174866 [GRCh38]
Chr11:76885912 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3127A>C (p.Ile1043Leu) single nucleotide variant not provided [RCV002595255] Chr11:77182442 [GRCh38]
Chr11:76893487 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.414T>C (p.Ala138=) single nucleotide variant not provided [RCV003023048] Chr11:77156035 [GRCh38]
Chr11:76867081 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2784G>A (p.Gln928=) single nucleotide variant not provided [RCV003057882] Chr11:77181469 [GRCh38]
Chr11:76892515 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1061C>T (p.Thr354Ile) single nucleotide variant not provided [RCV003023279] Chr11:77159504 [GRCh38]
Chr11:76870550 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6052-5G>A single nucleotide variant not provided [RCV002802176] Chr11:77211147 [GRCh38]
Chr11:76922192 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4875C>T (p.Leu1625=) single nucleotide variant not provided [RCV003057766] Chr11:77201470 [GRCh38]
Chr11:76912515 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5241C>G (p.His1747Gln) single nucleotide variant not provided [RCV003039894] Chr11:77203132 [GRCh38]
Chr11:76914177 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4236C>G (p.Leu1412=) single nucleotide variant not provided [RCV002801064] Chr11:77194437 [GRCh38]
Chr11:76905482 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2227del (p.Ala743fs) deletion not provided [RCV003084140] Chr11:77177588 [GRCh38]
Chr11:76888634 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4868G>T (p.Gly1623Val) single nucleotide variant not provided [RCV002766334] Chr11:77201463 [GRCh38]
Chr11:76912508 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1407G>T (p.Val469=) single nucleotide variant not provided [RCV002711048] Chr11:77162183 [GRCh38]
Chr11:76873229 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3857C>T (p.Ala1286Val) single nucleotide variant not provided [RCV002625672] Chr11:77190803 [GRCh38]
Chr11:76901848 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2304G>A (p.Lys768=) single nucleotide variant not provided [RCV002711509] Chr11:77179066 [GRCh38]
Chr11:76890112 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6258C>T (p.Asn2086=) single nucleotide variant not provided [RCV002828891] Chr11:77211841 [GRCh38]
Chr11:76922886 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6355-3T>C single nucleotide variant not provided [RCV003022181] Chr11:77212949 [GRCh38]
Chr11:76923994 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5108C>A (p.Ala1703Glu) single nucleotide variant not provided [RCV002954147] Chr11:77202364 [GRCh38]
Chr11:76913409 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4043_4044del (p.Lys1348fs) deletion not provided [RCV003005542] Chr11:77192168..77192169 [GRCh38]
Chr11:76903213..76903214 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2821G>A (p.Asp941Asn) single nucleotide variant not provided [RCV002642397] Chr11:77181506 [GRCh38]
Chr11:76892552 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.904C>G (p.Arg302Gly) single nucleotide variant not provided [RCV002710172] Chr11:77158331 [GRCh38]
Chr11:76869377 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1133G>T (p.Arg378Leu) single nucleotide variant not provided [RCV002891004] Chr11:77160215 [GRCh38]
Chr11:76871261 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4806G>A (p.Arg1602=) single nucleotide variant not provided [RCV002932789] Chr11:77199772 [GRCh38]
Chr11:76910817 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4134G>A (p.Gly1378=) single nucleotide variant not provided [RCV002805519] Chr11:77192260 [GRCh38]
Chr11:76903305 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3625G>C (p.Val1209Leu) single nucleotide variant Inborn genetic diseases [RCV002850700] Chr11:77189465 [GRCh38]
Chr11:76900510 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6453T>C (p.Thr2151=) single nucleotide variant not provided [RCV002852439] Chr11:77213874 [GRCh38]
Chr11:76924919 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5857-3C>T single nucleotide variant not provided [RCV003040036] Chr11:77208427 [GRCh38]
Chr11:76919472 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4591C>T (p.Leu1531=) single nucleotide variant not provided [RCV002851035] Chr11:77199557 [GRCh38]
Chr11:76910602 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6238-4A>G single nucleotide variant not provided [RCV003085104] Chr11:77211817 [GRCh38]
Chr11:76922862 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1641C>T (p.Thr547=) single nucleotide variant not provided [RCV002828473] Chr11:77162939 [GRCh38]
Chr11:76873985 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3265G>A (p.Ala1089Thr) single nucleotide variant not provided [RCV003024228] Chr11:77182580 [GRCh38]
Chr11:76893625 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4619C>A (p.Ala1540Glu) single nucleotide variant not provided [RCV002627123] Chr11:77199585 [GRCh38]
Chr11:76910630 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1622C>T (p.Pro541Leu) single nucleotide variant not provided [RCV003084538] Chr11:77162920 [GRCh38]
Chr11:76873966 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3333G>C (p.Leu1111=) single nucleotide variant not provided [RCV002958748] Chr11:77183115 [GRCh38]
Chr11:76894160 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5710C>T (p.His1904Tyr) single nucleotide variant not provided [RCV003006132] Chr11:77206170 [GRCh38]
Chr11:76917215 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6522G>C (p.Leu2174Phe) single nucleotide variant not provided [RCV002766579] Chr11:77213943 [GRCh38]
Chr11:76924988 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.285C>T (p.Tyr95=) single nucleotide variant not provided [RCV002663403] Chr11:77147950 [GRCh38]
Chr11:76858996 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3108+11C>T single nucleotide variant not provided [RCV002701188] Chr11:77182165 [GRCh38]
Chr11:76893211 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3720G>A (p.Arg1240=) single nucleotide variant not provided [RCV003059558] Chr11:77190109 [GRCh38]
Chr11:76901154 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.132+8G>A single nucleotide variant not provided [RCV002876597] Chr11:77142830 [GRCh38]
Chr11:76853876 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4631G>C (p.Gly1544Ala) single nucleotide variant Inborn genetic diseases [RCV002742288] Chr11:77199597 [GRCh38]
Chr11:76910642 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3082T>C (p.Tyr1028His) single nucleotide variant not provided [RCV003058010] Chr11:77182128 [GRCh38]
Chr11:76893174 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5547CCT[1] (p.Leu1851del) microsatellite not provided [RCV002791268] Chr11:77205527..77205529 [GRCh38]
Chr11:76916572..76916574 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.388A>T (p.Met130Leu) single nucleotide variant not provided [RCV003056887] Chr11:77156009 [GRCh38]
Chr11:76867055 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.593-17C>T single nucleotide variant not provided [RCV003083366] Chr11:77156845 [GRCh38]
Chr11:76867891 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3938G>A (p.Gly1313Asp) single nucleotide variant not provided [RCV002851658] Chr11:77192064 [GRCh38]
Chr11:76903109 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1449C>G (p.Asp483Glu) single nucleotide variant not provided [RCV003083383] Chr11:77162225 [GRCh38]
Chr11:76873271 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3821C>T (p.Thr1274Met) single nucleotide variant not provided [RCV003083845] Chr11:77190767 [GRCh38]
Chr11:76901812 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2188-7C>T single nucleotide variant not provided [RCV003042117] Chr11:77177542 [GRCh38]
Chr11:76888588 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.471-12C>A single nucleotide variant not provided [RCV003084662] Chr11:77156648 [GRCh38]
Chr11:76867694 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5136C>T (p.Tyr1712=) single nucleotide variant not provided [RCV002576146] Chr11:77202392 [GRCh38]
Chr11:76913437 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6604C>T (p.Leu2202Phe) single nucleotide variant not provided [RCV002745494] Chr11:77214652 [GRCh38]
Chr11:76925697 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1190C>G (p.Ala397Gly) single nucleotide variant not provided [RCV003082127] Chr11:77160272 [GRCh38]
Chr11:76871318 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6399C>A (p.Ile2133=) single nucleotide variant not provided [RCV002872181] Chr11:77212996 [GRCh38]
Chr11:76924041 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-3dup duplication not provided [RCV002642664] Chr11:77172739..77172740 [GRCh38]
Chr11:76883785..76883786 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2368-7C>T single nucleotide variant not provided [RCV002851923] Chr11:77179728 [GRCh38]
Chr11:76890774 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3453G>A (p.Leu1151=) single nucleotide variant not provided [RCV003085573] Chr11:77184665 [GRCh38]
Chr11:76895710 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2166C>T (p.Gly722=) single nucleotide variant not provided [RCV002741324] Chr11:77175443 [GRCh38]
Chr11:76886489 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5344G>A (p.Gly1782Ser) single nucleotide variant not provided [RCV002790471] Chr11:77204093 [GRCh38]
Chr11:76915138 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1222G>C (p.Val408Leu) single nucleotide variant not provided [RCV002800737] Chr11:77160994 [GRCh38]
Chr11:76872040 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1203G>A (p.Gly401=) single nucleotide variant not provided [RCV003040332] Chr11:77160975 [GRCh38]
Chr11:76872021 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1860G>C (p.Leu620=) single nucleotide variant not provided [RCV002711727] Chr11:77172810 [GRCh38]
Chr11:76883856 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3630+13C>T single nucleotide variant not provided [RCV003059156] Chr11:77189483 [GRCh38]
Chr11:76900528 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1076_1077dup (p.Glu360fs) duplication not provided [RCV002894062] Chr11:77159518..77159519 [GRCh38]
Chr11:76870564..76870565 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3015G>T (p.Ala1005=) single nucleotide variant not provided [RCV003040427] Chr11:77182061 [GRCh38]
Chr11:76893107 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3024C>T (p.Tyr1008=) single nucleotide variant not provided [RCV003024395] Chr11:77182070 [GRCh38]
Chr11:76893116 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1344-6C>T single nucleotide variant not provided [RCV003056059] Chr11:77162114 [GRCh38]
Chr11:76873160 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1842C>G (p.Phe614Leu) single nucleotide variant not provided [RCV003040495] Chr11:77172792 [GRCh38]
Chr11:76883838 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5213_5224del (p.Ala1738_Lys1741del) deletion not provided [RCV002893871] Chr11:77203099..77203110 [GRCh38]
Chr11:76914144..76914155 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1677C>G (p.Tyr559Ter) single nucleotide variant not provided [RCV002626701] Chr11:77162975 [GRCh38]
Chr11:76874021 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2412G>A (p.Arg804=) single nucleotide variant not provided [RCV003024314] Chr11:77179779 [GRCh38]
Chr11:76890825 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5637-10G>T single nucleotide variant not provided [RCV003022490] Chr11:77206087 [GRCh38]
Chr11:76917132 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6355-15C>T single nucleotide variant not provided [RCV002623669] Chr11:77212937 [GRCh38]
Chr11:76923982 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3374A>G (p.Glu1125Gly) single nucleotide variant not provided [RCV003057256] Chr11:77183156 [GRCh38]
Chr11:76894201 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2432G>T (p.Arg811Leu) single nucleotide variant not provided [RCV003085290] Chr11:77179799 [GRCh38]
Chr11:76890845 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5161T>C (p.Tyr1721His) single nucleotide variant not provided [RCV002595182] Chr11:77202417 [GRCh38]
Chr11:76913462 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5230C>T (p.Leu1744=) single nucleotide variant not provided [RCV003024374] Chr11:77203121 [GRCh38]
Chr11:76914166 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3286-13G>C single nucleotide variant not provided [RCV002852395] Chr11:77183055 [GRCh38]
Chr11:76894100 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1817G>T (p.Arg606Leu) single nucleotide variant not provided [RCV003058120] Chr11:77172767 [GRCh38]
Chr11:76883813 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3630+9G>C single nucleotide variant not provided [RCV003084671] Chr11:77189479 [GRCh38]
Chr11:76900524 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3630+20C>T single nucleotide variant not provided [RCV003059077] Chr11:77189490 [GRCh38]
Chr11:76900535 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2418G>A (p.Leu806=) single nucleotide variant not provided [RCV002741888] Chr11:77179785 [GRCh38]
Chr11:76890831 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2962C>T (p.Leu988=) single nucleotide variant not provided [RCV002711855] Chr11:77182008 [GRCh38]
Chr11:76893054 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3430del (p.Glu1144fs) deletion not provided [RCV002890909] Chr11:77184641 [GRCh38]
Chr11:76895686 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3924+8C>A single nucleotide variant not provided [RCV002985377] Chr11:77190878 [GRCh38]
Chr11:76901923 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.707T>A (p.Leu236Gln) single nucleotide variant not provided [RCV003058341] Chr11:77156976 [GRCh38]
Chr11:76868022 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5637-15C>T single nucleotide variant not provided [RCV003083327] Chr11:77206082 [GRCh38]
Chr11:76917127 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5168+10C>G single nucleotide variant not provided [RCV002711593] Chr11:77202434 [GRCh38]
Chr11:76913479 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1344-7C>T single nucleotide variant not provided [RCV002853195] Chr11:77162113 [GRCh38]
Chr11:76873159 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2399T>A (p.Leu800Gln) single nucleotide variant not provided [RCV002595306] Chr11:77179766 [GRCh38]
Chr11:76890812 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.553A>G (p.Ile185Val) single nucleotide variant not provided [RCV002596266] Chr11:77156742 [GRCh38]
Chr11:76867788 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1797+9G>C single nucleotide variant not provided [RCV003042903] Chr11:77166171 [GRCh38]
Chr11:76877217 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4045G>T (p.Glu1349Ter) single nucleotide variant not provided [RCV002917413] Chr11:77192171 [GRCh38]
Chr11:76903216 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2259A>T (p.Lys753Asn) single nucleotide variant not provided [RCV003057447] Chr11:77177620 [GRCh38]
Chr11:76888666 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6265G>A (p.Ala2089Thr) single nucleotide variant Inborn genetic diseases [RCV003058742]|not provided [RCV003060463] Chr11:77211848 [GRCh38]
Chr11:76922893 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2982_2983dup (p.Asp995fs) duplication not provided [RCV002894196] Chr11:77182027..77182028 [GRCh38]
Chr11:76893073..76893074 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.918G>A (p.Lys306=) single nucleotide variant not provided [RCV002786722] Chr11:77158345 [GRCh38]
Chr11:76869391 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.609G>C (p.Lys203Asn) single nucleotide variant not provided [RCV002630793] Chr11:77156878 [GRCh38]
Chr11:76867924 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1554+12C>T single nucleotide variant not provided [RCV002746583] Chr11:77162342 [GRCh38]
Chr11:76873388 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1649G>A (p.Gly550Asp) single nucleotide variant not provided [RCV002580679] Chr11:77162947 [GRCh38]
Chr11:76873993 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4324-12C>A single nucleotide variant not provided [RCV002632971] Chr11:77197469 [GRCh38]
Chr11:76908514 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5309C>G (p.Ala1770Gly) single nucleotide variant not provided [RCV002632982] Chr11:77203200 [GRCh38]
Chr11:76914245 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1385A>C (p.Gln462Pro) single nucleotide variant not provided [RCV003063715] Chr11:77162161 [GRCh38]
Chr11:76873207 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6219A>G (p.Ser2073=) single nucleotide variant not provided [RCV003048019] Chr11:77211319 [GRCh38]
Chr11:76922364 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1932C>A (p.Pro644=) single nucleotide variant not provided [RCV002966716] Chr11:77172882 [GRCh38]
Chr11:76883928 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3075A>C (p.Pro1025=) single nucleotide variant not provided [RCV003090966] Chr11:77182121 [GRCh38]
Chr11:76893167 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4771C>T (p.Arg1591Cys) single nucleotide variant not provided [RCV003092022] Chr11:77199737 [GRCh38]
Chr11:76910782 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.77C>T (p.Ala26Val) single nucleotide variant not provided [RCV002632979] Chr11:77142767 [GRCh38]
Chr11:76853813 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4441+19T>A single nucleotide variant not provided [RCV003091078] Chr11:77197617 [GRCh38]
Chr11:76908662 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2405G>A (p.Arg802His) single nucleotide variant not provided [RCV002966273] Chr11:77179772 [GRCh38]
Chr11:76890818 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_000260.4(MYO7A):c.1031G>A (p.Cys344Tyr) single nucleotide variant not provided [RCV002670713] Chr11:77159474 [GRCh38]
Chr11:76870520 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2187+8C>T single nucleotide variant not provided [RCV002811942] Chr11:77175472 [GRCh38]
Chr11:76886518 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4891G>T (p.Asp1631Tyr) single nucleotide variant not provided [RCV002631288] Chr11:77201486 [GRCh38]
Chr11:76912531 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5742+13G>A single nucleotide variant not provided [RCV003063058] Chr11:77206215 [GRCh38]
Chr11:76917260 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.981C>G (p.His327Gln) single nucleotide variant Inborn genetic diseases [RCV002813119] Chr11:77158408 [GRCh38]
Chr11:76869454 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4852+15G>T single nucleotide variant not provided [RCV003065269] Chr11:77199833 [GRCh38]
Chr11:76910878 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.731G>T (p.Arg244Leu) single nucleotide variant not provided [RCV002602089] Chr11:77157000 [GRCh38]
Chr11:76868046 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3988G>A (p.Ala1330Thr) single nucleotide variant not provided [RCV002648028] Chr11:77192114 [GRCh38]
Chr11:76903159 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1300G>A (p.Gly434Ser) single nucleotide variant not provided [RCV003089281] Chr11:77161072 [GRCh38]
Chr11:76872118 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2587-10del deletion not provided [RCV003065777] Chr11:77180360 [GRCh38]
Chr11:76891406 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.1111A>T (p.Thr371Ser) single nucleotide variant not provided [RCV003091628] Chr11:77160193 [GRCh38]
Chr11:76871239 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1722T>C (p.His574=) single nucleotide variant not provided [RCV002649734] Chr11:77166087 [GRCh38]
Chr11:76877133 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3815T>A (p.Leu1272Gln) single nucleotide variant not provided [RCV002810449] Chr11:77190761 [GRCh38]
Chr11:76901806 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4442-17C>T single nucleotide variant not provided [RCV003091302] Chr11:77198478 [GRCh38]
Chr11:76909523 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1540A>G (p.Ser514Gly) single nucleotide variant not provided [RCV002962714] Chr11:77162316 [GRCh38]
Chr11:76873362 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4076A>G (p.Glu1359Gly) single nucleotide variant not provided [RCV003089537] Chr11:77192202 [GRCh38]
Chr11:76903247 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.183C>T (p.Pro61=) single nucleotide variant not provided [RCV002597572] Chr11:77147848 [GRCh38]
Chr11:76858894 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2694G>C (p.Gln898His) single nucleotide variant not provided [RCV003009782] Chr11:77180481 [GRCh38]
Chr11:76891527 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6237+18A>G single nucleotide variant not provided [RCV003087152] Chr11:77211355 [GRCh38]
Chr11:76922400 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1921T>A (p.Phe641Ile) single nucleotide variant not provided [RCV002962511] Chr11:77172871 [GRCh38]
Chr11:76883917 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3631-17G>A single nucleotide variant not provided [RCV002648047] Chr11:77190003 [GRCh38]
Chr11:76901048 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3129C>T (p.Ile1043=) single nucleotide variant not provided [RCV002834023] Chr11:77182444 [GRCh38]
Chr11:76893489 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.267C>G (p.Tyr89Ter) single nucleotide variant not provided [RCV002834034] Chr11:77147932 [GRCh38]
Chr11:76858978 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2134G>A (p.Val712Met) single nucleotide variant not provided [RCV002629976] Chr11:77175411 [GRCh38]
Chr11:76886457 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2367+10C>A single nucleotide variant not provided [RCV002877240] Chr11:77179139 [GRCh38]
Chr11:76890185 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1108C>T (p.Leu370=) single nucleotide variant not provided [RCV003011329] Chr11:77160190 [GRCh38]
Chr11:76871236 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6390A>C (p.Leu2130=) single nucleotide variant not provided [RCV002962844] Chr11:77212987 [GRCh38]
Chr11:76924032 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2296A>G (p.Lys766Glu) single nucleotide variant not provided [RCV002834947] Chr11:77179058 [GRCh38]
Chr11:76890104 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3637C>A (p.Arg1213=) single nucleotide variant not provided [RCV002899353] Chr11:77190026 [GRCh38]
Chr11:76901071 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.247C>T (p.Arg83Cys) single nucleotide variant not provided [RCV003008530] Chr11:77147912 [GRCh38]
Chr11:76858958 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2230A>T (p.Ile744Phe) single nucleotide variant not provided [RCV003027162] Chr11:77177591 [GRCh38]
Chr11:76888637 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1344-8C>T single nucleotide variant not provided [RCV002807331] Chr11:77162112 [GRCh38]
Chr11:76873158 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.189G>C (p.Ser63=) single nucleotide variant not provided [RCV003046747] Chr11:77147854 [GRCh38]
Chr11:76858900 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2113T>G (p.Cys705Gly) single nucleotide variant Inborn genetic diseases [RCV002584781]|not provided [RCV002598746] Chr11:77175390 [GRCh38]
Chr11:76886436 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1555-1G>C single nucleotide variant not provided [RCV003062432] Chr11:77162852 [GRCh38]
Chr11:76873898 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2532G>A (p.Gln844=) single nucleotide variant not provided [RCV003009975] Chr11:77179899 [GRCh38]
Chr11:76890945 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5604C>A (p.Ile1868=) single nucleotide variant not provided [RCV003027876] Chr11:77205585 [GRCh38]
Chr11:76916630 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5948T>C (p.Ile1983Thr) single nucleotide variant not provided [RCV003087934] Chr11:77208700 [GRCh38]
Chr11:76919745 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5032C>T (p.Arg1678Trp) single nucleotide variant not provided [RCV003060418] Chr11:77201627 [GRCh38]
Chr11:76912672 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.837C>T (p.Asn279=) single nucleotide variant not provided [RCV002672208] Chr11:77157380 [GRCh38]
Chr11:76868426 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2802T>G (p.His934Gln) single nucleotide variant not provided [RCV003060719] Chr11:77181487 [GRCh38]
Chr11:76892533 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6094G>C (p.Glu2032Gln) single nucleotide variant Inborn genetic diseases [RCV002809061] Chr11:77211194 [GRCh38]
Chr11:76922239 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5169-5_5169-4insA insertion not provided [RCV003028651] Chr11:77203055..77203056 [GRCh38]
Chr11:76914100..76914101 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.286-9T>C single nucleotide variant not provided [RCV002834484] Chr11:77155898 [GRCh38]
Chr11:76866944 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6546C>A (p.Cys2182Ter) single nucleotide variant not provided [RCV003044265] Chr11:77213967 [GRCh38]
Chr11:76925012 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5636+11C>T single nucleotide variant not provided [RCV002933511] Chr11:77205628 [GRCh38]
Chr11:76916673 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3492G>A (p.Arg1164=) single nucleotide variant not provided [RCV003027033] Chr11:77184704 [GRCh38]
Chr11:76895749 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5898_5899delinsGT (p.Arg1967Ter) indel not provided [RCV002856387] Chr11:77208471..77208472 [GRCh38]
Chr11:76919516..76919517 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.6030T>C (p.Asp2010=) single nucleotide variant not provided [RCV002857615] Chr11:77208782 [GRCh38]
Chr11:76919827 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2210A>G (p.Glu737Gly) single nucleotide variant not provided [RCV003062433] Chr11:77177571 [GRCh38]
Chr11:76888617 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2314A>G (p.Thr772Ala) single nucleotide variant not provided [RCV003048476] Chr11:77179076 [GRCh38]
Chr11:76890122 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1800C>T (p.Gly600=) single nucleotide variant not provided [RCV003088884] Chr11:77172750 [GRCh38]
Chr11:76883796 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2670G>C (p.Lys890Asn) single nucleotide variant not provided [RCV002938698] Chr11:77180457 [GRCh38]
Chr11:76891503 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3463C>T (p.His1155Tyr) single nucleotide variant not provided [RCV002811890] Chr11:77184675 [GRCh38]
Chr11:76895720 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1118G>A (p.Arg373His) single nucleotide variant not provided [RCV003009139] Chr11:77160200 [GRCh38]
Chr11:76871246 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5521A>G (p.Thr1841Ala) single nucleotide variant not provided [RCV003090138] Chr11:77205502 [GRCh38]
Chr11:76916547 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.285+16C>A single nucleotide variant not provided [RCV002629851] Chr11:77147966 [GRCh38]
Chr11:76859012 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1798-20G>A single nucleotide variant not provided [RCV003065038] Chr11:77172728 [GRCh38]
Chr11:76883774 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1911G>A (p.Lys637=) single nucleotide variant not provided [RCV002933637] Chr11:77172861 [GRCh38]
Chr11:76883907 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3666C>T (p.Gly1222=) single nucleotide variant not provided [RCV002856219] Chr11:77190055 [GRCh38]
Chr11:76901100 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.237G>A (p.Ala79=) single nucleotide variant not provided [RCV003045138] Chr11:77147902 [GRCh38]
Chr11:76858948 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4237G>C (p.Val1413Leu) single nucleotide variant not provided [RCV003061456] Chr11:77194438 [GRCh38]
Chr11:76905483 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1545G>A (p.Lys515=) single nucleotide variant not provided [RCV002810815] Chr11:77162321 [GRCh38]
Chr11:76873367 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.121G>T (p.Asp41Tyr) single nucleotide variant not provided [RCV002650452] Chr11:77142811 [GRCh38]
Chr11:76853857 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1716C>T (p.Thr572=) single nucleotide variant not provided [RCV003030964] Chr11:77166081 [GRCh38]
Chr11:76877127 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6454C>T (p.His2152Tyr) single nucleotide variant not provided [RCV003060400] Chr11:77213875 [GRCh38]
Chr11:76924920 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5944+11C>T single nucleotide variant not provided [RCV003061195] Chr11:77208528 [GRCh38]
Chr11:76919573 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4853-8C>T single nucleotide variant not provided [RCV003061491] Chr11:77201440 [GRCh38]
Chr11:76912485 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1353G>A (p.Gln451=) single nucleotide variant not provided [RCV002834754] Chr11:77162129 [GRCh38]
Chr11:76873175 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1719G>A (p.Leu573=) single nucleotide variant not provided [RCV003010010] Chr11:77166084 [GRCh38]
Chr11:76877130 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3996G>A (p.Glu1332=) single nucleotide variant not provided [RCV003062656] Chr11:77192122 [GRCh38]
Chr11:76903167 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2619del (p.Leu874fs) deletion not provided [RCV002811675] Chr11:77180405 [GRCh38]
Chr11:76891451 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5480+18G>T single nucleotide variant not provided [RCV003045849] Chr11:77204247 [GRCh38]
Chr11:76915292 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6237+12del deletion not provided [RCV003089986] Chr11:77211346 [GRCh38]
Chr11:76922391 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.3298G>A (p.Glu1100Lys) single nucleotide variant not provided [RCV002630039] Chr11:77183080 [GRCh38]
Chr11:76894125 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4834C>T (p.Gln1612Ter) single nucleotide variant not provided [RCV003028842] Chr11:77199800 [GRCh38]
Chr11:76910845 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5340C>A (p.Tyr1780Ter) single nucleotide variant not provided [RCV002806940] Chr11:77204089 [GRCh38]
Chr11:76915134 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4081A>G (p.Asn1361Asp) single nucleotide variant not provided [RCV002631395] Chr11:77192207 [GRCh38]
Chr11:76903252 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2960C>G (p.Pro987Arg) single nucleotide variant not provided [RCV003044747] Chr11:77182006 [GRCh38]
Chr11:76893052 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1201-19G>A single nucleotide variant not provided [RCV003010424] Chr11:77160954 [GRCh38]
Chr11:76872000 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2801A>G (p.His934Arg) single nucleotide variant Inborn genetic diseases [RCV003171046]|not provided [RCV003064843] Chr11:77181486 [GRCh38]
Chr11:76892532 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.399C>T (p.His133=) single nucleotide variant not provided [RCV002598904] Chr11:77156020 [GRCh38]
Chr11:76867066 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6156C>T (p.Tyr2052=) single nucleotide variant not provided [RCV003011470] Chr11:77211256 [GRCh38]
Chr11:76922301 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2105G>A (p.Arg702His) single nucleotide variant not provided [RCV003062865] Chr11:77175382 [GRCh38]
Chr11:76886428 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5216G>T (p.Arg1739Leu) single nucleotide variant Inborn genetic diseases [RCV002836204] Chr11:77203107 [GRCh38]
Chr11:76914152 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1200+16G>A single nucleotide variant not provided [RCV002966088] Chr11:77160298 [GRCh38]
Chr11:76871344 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5602A>G (p.Ile1868Val) single nucleotide variant not provided [RCV002715824] Chr11:77205583 [GRCh38]
Chr11:76916628 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3109-2A>G single nucleotide variant Usher syndrome type 1 [RCV003155502]|not provided [RCV003062434] Chr11:77182422 [GRCh38]
Chr11:76893467 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3653G>C (p.Gly1218Ala) single nucleotide variant Inborn genetic diseases [RCV002748115] Chr11:77190042 [GRCh38]
Chr11:76901087 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.735+18G>A single nucleotide variant not provided [RCV003045040] Chr11:77157022 [GRCh38]
Chr11:76868068 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2076G>A (p.Val692=) single nucleotide variant not provided [RCV003060720] Chr11:77174896 [GRCh38]
Chr11:76885942 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4735G>C (p.Glu1579Gln) single nucleotide variant not provided [RCV003029573] Chr11:77199701 [GRCh38]
Chr11:76910746 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.582C>G (p.Pro194=) single nucleotide variant not provided [RCV003029965] Chr11:77156771 [GRCh38]
Chr11:76867817 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4437C>A (p.Phe1479Leu) single nucleotide variant not provided [RCV002922094] Chr11:77197594 [GRCh38]
Chr11:76908639 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5835_5836del (p.Phe1946fs) microsatellite not provided [RCV003045394] Chr11:77207379..77207380 [GRCh38]
Chr11:76918424..76918425 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5487C>G (p.Ser1829Arg) single nucleotide variant not provided [RCV002647819] Chr11:77205468 [GRCh38]
Chr11:76916513 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1870A>T (p.Thr624Ser) single nucleotide variant not provided [RCV003087759] Chr11:77172820 [GRCh38]
Chr11:76883866 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5582G>A (p.Arg1861Gln) single nucleotide variant not provided [RCV002647846] Chr11:77205563 [GRCh38]
Chr11:76916608 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4650_4659del (p.Ala1551fs) deletion not provided [RCV002899258] Chr11:77199613..77199622 [GRCh38]
Chr11:76910658..76910667 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2739G>A (p.Leu913=) single nucleotide variant not provided [RCV002627701] Chr11:77181424 [GRCh38]
Chr11:76892470 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5743-4C>T single nucleotide variant not provided [RCV002962012] Chr11:77207285 [GRCh38]
Chr11:76918330 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3315C>T (p.Ser1105=) single nucleotide variant not provided [RCV002857805] Chr11:77183097 [GRCh38]
Chr11:76894142 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4275G>A (p.Leu1425=) single nucleotide variant not provided [RCV002601413] Chr11:77194476 [GRCh38]
Chr11:76905521 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4646C>A (p.Thr1549Asn) single nucleotide variant not provided [RCV003031552] Chr11:77199612 [GRCh38]
Chr11:76910657 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3375+17G>A single nucleotide variant not provided [RCV002599056] Chr11:77183174 [GRCh38]
Chr11:76894219 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5353C>T (p.Pro1785Ser) single nucleotide variant not provided [RCV002676260] Chr11:77204102 [GRCh38]
Chr11:76915147 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5857-8_5857-7delinsTT indel not provided [RCV002715382] Chr11:77208422..77208423 [GRCh38]
Chr11:76919467..76919468 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4002C>T (p.Gly1334=) single nucleotide variant not provided [RCV003090139] Chr11:77192128 [GRCh38]
Chr11:76903173 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1127T>C (p.Ile376Thr) single nucleotide variant not provided [RCV002581545] Chr11:77160209 [GRCh38]
Chr11:76871255 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4246T>C (p.Tyr1416His) single nucleotide variant not provided [RCV003060359] Chr11:77194447 [GRCh38]
Chr11:76905492 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4300_4301delinsTG (p.Leu1434Trp) indel not provided [RCV002856490] Chr11:77194501..77194502 [GRCh38]
Chr11:76905546..76905547 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.152_156dup (p.Ala53fs) duplication not provided [RCV002835254] Chr11:77147815..77147816 [GRCh38]
Chr11:76858861..76858862 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3924+9_3924+24dup duplication not provided [RCV002856227] Chr11:77190876..77190877 [GRCh38]
Chr11:76901921..76901922 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2548A>G (p.Met850Val) single nucleotide variant not provided [RCV002602349] Chr11:77179915 [GRCh38]
Chr11:76890961 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1890C>A (p.Pro630=) single nucleotide variant not provided [RCV002834381] Chr11:77172840 [GRCh38]
Chr11:76883886 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5343G>A (p.Met1781Ile) single nucleotide variant not provided [RCV002580371] Chr11:77204092 [GRCh38]
Chr11:76915137 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.285+1G>A single nucleotide variant not provided [RCV002631311] Chr11:77147951 [GRCh38]
Chr11:76858997 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3126G>A (p.Trp1042Ter) single nucleotide variant not provided [RCV003031085] Chr11:77182441 [GRCh38]
Chr11:76893486 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4587C>T (p.Leu1529=) single nucleotide variant not provided [RCV002877334] Chr11:77199553 [GRCh38]
Chr11:76910598 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.233A>C (p.Glu78Ala) single nucleotide variant not provided [RCV002877408] Chr11:77147898 [GRCh38]
Chr11:76858944 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3376-9C>G single nucleotide variant not provided [RCV002857508] Chr11:77184579 [GRCh38]
Chr11:76895624 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5281C>T (p.Leu1761=) single nucleotide variant not provided [RCV003030191] Chr11:77203172 [GRCh38]
Chr11:76914217 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1860G>T (p.Leu620=) single nucleotide variant not provided [RCV002833306] Chr11:77172810 [GRCh38]
Chr11:76883856 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6548A>G (p.Glu2183Gly) single nucleotide variant not provided [RCV002770929] Chr11:77213969 [GRCh38]
Chr11:76925014 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5857-6C>T single nucleotide variant not provided [RCV002653218] Chr11:77208424 [GRCh38]
Chr11:76919469 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6182G>A (p.Arg2061Gln) single nucleotide variant Inborn genetic diseases [RCV003051298]|not provided [RCV003051297] Chr11:77211282 [GRCh38]
Chr11:76922327 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4260C>T (p.Arg1420=) single nucleotide variant not provided [RCV002654550] Chr11:77194461 [GRCh38]
Chr11:76905506 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2624C>T (p.Ala875Val) single nucleotide variant not provided [RCV003068297] Chr11:77180411 [GRCh38]
Chr11:76891457 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4334C>A (p.Ala1445Asp) single nucleotide variant not provided [RCV002944307] Chr11:77197491 [GRCh38]
Chr11:76908536 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2542C>T (p.Arg848Trp) single nucleotide variant not provided [RCV003067605] Chr11:77179909 [GRCh38]
Chr11:76890955 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4519G>A (p.Val1507Ile) single nucleotide variant not provided [RCV002605379] Chr11:77198572 [GRCh38]
Chr11:76909617 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4068C>G (p.Ser1356Arg) single nucleotide variant not provided [RCV002725907] Chr11:77192194 [GRCh38]
Chr11:76903239 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5794G>A (p.Ala1932Thr) single nucleotide variant not provided [RCV002654741] Chr11:77207340 [GRCh38]
Chr11:76918385 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.96C>T (p.Asp32=) single nucleotide variant not provided [RCV002725926] Chr11:77142786 [GRCh38]
Chr11:76853832 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4748C>T (p.Thr1583Ile) single nucleotide variant not provided [RCV002654856] Chr11:77199714 [GRCh38]
Chr11:76910759 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5247G>T (p.Arg1749=) single nucleotide variant not provided [RCV003067945] Chr11:77203138 [GRCh38]
Chr11:76914183 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6354+1G>C single nucleotide variant not provided [RCV003066076] Chr11:77211938 [GRCh38]
Chr11:76922983 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3866A>G (p.Asp1289Gly) single nucleotide variant not provided [RCV002721340] Chr11:77190812 [GRCh38]
Chr11:76901857 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3634C>G (p.Leu1212Val) single nucleotide variant not provided [RCV002633827] Chr11:77190023 [GRCh38]
Chr11:76901068 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1008C>T (p.Arg336=) single nucleotide variant not provided [RCV003092275] Chr11:77159451 [GRCh38]
Chr11:76870497 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4159G>A (p.Asp1387Asn) single nucleotide variant not provided [RCV003068193] Chr11:77194360 [GRCh38]
Chr11:76905405 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2683C>A (p.Arg895Ser) single nucleotide variant not provided [RCV002634592] Chr11:77180470 [GRCh38]
Chr11:76891516 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3637C>T (p.Arg1213Trp) single nucleotide variant not provided [RCV002605965] Chr11:77190026 [GRCh38]
Chr11:76901071 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.47_48delinsCT (p.Leu16Ser) indel not provided [RCV002721473] Chr11:77142737..77142738 [GRCh38]
Chr11:76853783..76853784 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2155T>C (p.Trp719Arg) single nucleotide variant not provided [RCV002722075] Chr11:77175432 [GRCh38]
Chr11:76886478 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1461C>G (p.Ile487Met) single nucleotide variant not provided [RCV002654596] Chr11:77162237 [GRCh38]
Chr11:76873283 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1668C>A (p.Gly556=) single nucleotide variant not provided [RCV003071490] Chr11:77162966 [GRCh38]
Chr11:76874012 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5586G>A (p.Lys1862=) single nucleotide variant not provided [RCV003066331] Chr11:77205567 [GRCh38]
Chr11:76916612 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5567G>A (p.Arg1856His) single nucleotide variant not provided [RCV002609545] Chr11:77205548 [GRCh38]
Chr11:76916593 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.473_475del (p.Gly158del) deletion not provided [RCV002634685] Chr11:77156661..77156663 [GRCh38]
Chr11:76867707..76867709 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1238A>G (p.Lys413Arg) single nucleotide variant not provided [RCV003070420] Chr11:77161010 [GRCh38]
Chr11:76872056 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4640G>T (p.Gly1547Val) single nucleotide variant not provided [RCV003072881] Chr11:77199606 [GRCh38]
Chr11:76910651 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3259C>T (p.Leu1087=) single nucleotide variant not provided [RCV002609893] Chr11:77182574 [GRCh38]
Chr11:76893619 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1289G>A (p.Arg430His) single nucleotide variant not provided [RCV002654993] Chr11:77161061 [GRCh38]
Chr11:76872107 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2596C>T (p.Arg866Cys) single nucleotide variant not provided [RCV003071910] Chr11:77180383 [GRCh38]
Chr11:76891429 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6619A>T (p.Lys2207Ter) single nucleotide variant not provided [RCV002589691] Chr11:77214667 [GRCh38]
Chr11:76925712 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.274del (p.His92fs) deletion not provided [RCV002814585] Chr11:77147938 [GRCh38]
Chr11:76858984 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1672G>A (p.Val558Ile) single nucleotide variant not provided [RCV003051213] Chr11:77162970 [GRCh38]
Chr11:76874016 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1435C>T (p.Leu479=) single nucleotide variant not provided [RCV003072065] Chr11:77162211 [GRCh38]
Chr11:76873257 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6105G>A (p.Leu2035=) single nucleotide variant not provided [RCV002589922] Chr11:77211205 [GRCh38]
Chr11:76922250 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1630A>T (p.Asn544Tyr) single nucleotide variant not provided [RCV003092203] Chr11:77162928 [GRCh38]
Chr11:76873974 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6509C>G (p.Thr2170Ser) single nucleotide variant not provided [RCV002604132] Chr11:77213930 [GRCh38]
Chr11:76924975 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1797+14G>A single nucleotide variant not provided [RCV003067985] Chr11:77166176 [GRCh38]
Chr11:76877222 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2675A>G (p.Glu892Gly) single nucleotide variant not provided [RCV002585343] Chr11:77180462 [GRCh38]
Chr11:76891508 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5326+17del deletion not provided [RCV002606037] Chr11:77203232 [GRCh38]
Chr11:76914277 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5743-9C>G single nucleotide variant not provided [RCV002635752] Chr11:77207280 [GRCh38]
Chr11:76918325 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3098dup (p.Gly1033_Asp1034insTer) duplication not provided [RCV002814744] Chr11:77182141..77182142 [GRCh38]
Chr11:76893187..76893188 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5605G>A (p.Asp1869Asn) single nucleotide variant Inborn genetic diseases [RCV002655848] Chr11:77205586 [GRCh38]
Chr11:76916631 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6463A>G (p.Thr2155Ala) single nucleotide variant not provided [RCV002606148] Chr11:77213884 [GRCh38]
Chr11:76924929 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.592+19G>C single nucleotide variant not provided [RCV003073448] Chr11:77156800 [GRCh38]
Chr11:76867846 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5784C>T (p.Cys1928=) single nucleotide variant not provided [RCV002721380] Chr11:77207330 [GRCh38]
Chr11:76918375 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.688G>A (p.Ala230Thr) single nucleotide variant not provided [RCV002585575] Chr11:77156957 [GRCh38]
Chr11:76868003 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5052C>T (p.Val1684=) single nucleotide variant not provided [RCV002586525] Chr11:77202308 [GRCh38]
Chr11:76913353 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4907A>C (p.Asp1636Ala) single nucleotide variant not provided [RCV002608189] Chr11:77201502 [GRCh38]
Chr11:76912547 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.673G>A (p.Gly225Ser) single nucleotide variant not provided [RCV002588423] Chr11:77156942 [GRCh38]
Chr11:76867988 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6314T>A (p.Phe2105Tyr) single nucleotide variant Inborn genetic diseases [RCV003050971]|not provided [RCV003050972] Chr11:77211897 [GRCh38]
Chr11:76922942 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2140G>A (p.Gly714Ser) single nucleotide variant not provided [RCV003071404] Chr11:77175417 [GRCh38]
Chr11:76886463 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4858G>A (p.Glu1620Lys) single nucleotide variant not provided [RCV003067830] Chr11:77201453 [GRCh38]
Chr11:76912498 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1757A>G (p.Asn586Ser) single nucleotide variant not provided [RCV003051119] Chr11:77166122 [GRCh38]
Chr11:76877168 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2282+4C>A single nucleotide variant not provided [RCV002611064] Chr11:77177647 [GRCh38]
Chr11:76888693 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6636G>A (p.Arg2212=) single nucleotide variant not provided [RCV002582727] Chr11:77214684 [GRCh38]
Chr11:76925729 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2985C>T (p.Asp995=) single nucleotide variant not provided [RCV002604540] Chr11:77182031 [GRCh38]
Chr11:76893077 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4039C>G (p.Arg1347Gly) single nucleotide variant not provided [RCV002609347] Chr11:77192165 [GRCh38]
Chr11:76903210 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.735+8_735+11dup duplication not provided [RCV002634949] Chr11:77157011..77157012 [GRCh38]
Chr11:76868057..76868058 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1086C>T (p.Asn362=) single nucleotide variant not provided [RCV002611319] Chr11:77160168 [GRCh38]
Chr11:76871214 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5909C>T (p.Thr1970Ile) single nucleotide variant not provided [RCV003092867] Chr11:77208482 [GRCh38]
Chr11:76919527 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5743-5C>G single nucleotide variant not provided [RCV002604660] Chr11:77207284 [GRCh38]
Chr11:76918329 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4324-18G>C single nucleotide variant not provided [RCV002633860] Chr11:77197463 [GRCh38]
Chr11:76908508 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1210G>A (p.Gly404Arg) single nucleotide variant not provided [RCV003066915] Chr11:77160982 [GRCh38]
Chr11:76872028 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.814T>G (p.Leu272Val) single nucleotide variant not provided [RCV002653458] Chr11:77157357 [GRCh38]
Chr11:76868403 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3587C>T (p.Ser1196Phe) single nucleotide variant not provided [RCV002589458] Chr11:77189427 [GRCh38]
Chr11:76900472 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4752C>G (p.Ser1584=) single nucleotide variant not provided [RCV002584418] Chr11:77199718 [GRCh38]
Chr11:76910763 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2095G>A (p.Gly699Ser) single nucleotide variant not provided [RCV002589694] Chr11:77175372 [GRCh38]
Chr11:76886418 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6355-7T>G single nucleotide variant not provided [RCV003032012] Chr11:77212945 [GRCh38]
Chr11:76923990 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.285+20G>A single nucleotide variant not provided [RCV003070525] Chr11:77147970 [GRCh38]
Chr11:76859016 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.849+18C>G single nucleotide variant not provided [RCV002587893] Chr11:77157410 [GRCh38]
Chr11:76868456 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2488C>A (p.Arg830Ser) single nucleotide variant not provided [RCV003068936] Chr11:77179855 [GRCh38]
Chr11:76890901 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.19-17CT[3] microsatellite not provided [RCV002610617] Chr11:77142692..77142693 [GRCh38]
Chr11:76853738..76853739 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 2 [RCV003155566] Chr11:77205533 [GRCh38]
Chr11:76916578 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5945-30del deletion not provided [RCV003131659] Chr11:77208665 [GRCh38]
Chr11:76919710 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs) deletion Usher syndrome type 1 [RCV003228765] Chr11:77181451..77181464 [GRCh38]
Chr11:76892497..76892510 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.94G>A (p.Asp32Asn) single nucleotide variant Inborn genetic diseases [RCV003215611] Chr11:77142784 [GRCh38]
Chr11:76853830 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3512T>C (p.Ile1171Thr) single nucleotide variant Inborn genetic diseases [RCV003188696] Chr11:77189352 [GRCh38]
Chr11:76900397 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3651C>A (p.His1217Gln) single nucleotide variant Inborn genetic diseases [RCV003199125] Chr11:77190040 [GRCh38]
Chr11:76901085 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5880C>A (p.Asp1960Glu) single nucleotide variant Inborn genetic diseases [RCV003211886] Chr11:77208453 [GRCh38]
Chr11:76919498 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4246_4248delinsCAA (p.Tyr1416Gln) indel not provided [RCV003132800] Chr11:77194447..77194449 [GRCh38]
Chr11:76905492..76905494 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1254_1263del (p.Tyr419fs) deletion not provided [RCV003135292] Chr11:77161025..77161034 [GRCh38]
Chr11:76872071..76872080 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5373_5379delinsACCGACCA (p.Val1792fs) indel not provided [RCV003135293] Chr11:77204122..77204128 [GRCh38]
Chr11:76915167..76915173 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.269G>A (p.Arg90Gln) single nucleotide variant Inborn genetic diseases [RCV003211290] Chr11:77147934 [GRCh38]
Chr11:76858980 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6470T>A (p.Ile2157Asn) single nucleotide variant not provided [RCV003227170] Chr11:77213891 [GRCh38]
Chr11:76924936 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1568C>G (p.Thr523Ser) single nucleotide variant Inborn genetic diseases [RCV003213484] Chr11:77162866 [GRCh38]
Chr11:76873912 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4692A>C (p.Lys1564Asn) single nucleotide variant Inborn genetic diseases [RCV003198969] Chr11:77199658 [GRCh38]
Chr11:76910703 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.592+1G>A single nucleotide variant not provided [RCV003227370] Chr11:77156782 [GRCh38]
Chr11:76867828 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs) duplication Usher syndrome [RCV003324703] Chr11:77172878..77172879 [GRCh38]
Chr11:76883924..76883925 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4569-9C>G single nucleotide variant not provided [RCV003568986] Chr11:77199526 [GRCh38]
Chr11:76910571 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2795C>A (p.Ala932Asp) single nucleotide variant Inborn genetic diseases [RCV003285011] Chr11:77181480 [GRCh38]
Chr11:76892526 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.541C>T (p.Gln181Ter) single nucleotide variant Usher syndrome type 1B [RCV003320029] Chr11:77156730 [GRCh38]
Chr11:76867776 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.1091del (p.Pro364fs) deletion not provided [RCV003712705] Chr11:77160168 [GRCh38]
Chr11:76871214 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5043+3A>G single nucleotide variant Usher syndrome type 1 [RCV003326200] Chr11:77201641 [GRCh38]
Chr11:76912686 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6067C>T (p.Leu2023Phe) single nucleotide variant not provided [RCV003329940] Chr11:77211167 [GRCh38]
Chr11:76922212 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.3470T>A (p.Ile1157Asn) single nucleotide variant not provided [RCV003329628] Chr11:77184682 [GRCh38]
Chr11:76895727 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2584G>A (p.Glu862Lys) single nucleotide variant Inborn genetic diseases [RCV003381139] Chr11:77179951 [GRCh38]
Chr11:76890997 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5951T>G (p.Val1984Gly) single nucleotide variant Inborn genetic diseases [RCV003345795] Chr11:77208703 [GRCh38]
Chr11:76919748 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1619C>T (p.Pro540Leu) single nucleotide variant Inborn genetic diseases [RCV003376786] Chr11:77162917 [GRCh38]
Chr11:76873963 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6282G>T (p.Glu2094Asp) single nucleotide variant Inborn genetic diseases [RCV003355063] Chr11:77211865 [GRCh38]
Chr11:76922910 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1135_1147dup (p.Ser383fs) duplication not provided [RCV003395928] Chr11:77160216..77160217 [GRCh38]
Chr11:76871262..76871263 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4700C>T (p.Ala1567Val) single nucleotide variant Inborn genetic diseases [RCV003378041] Chr11:77199666 [GRCh38]
Chr11:76910711 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4382A>G (p.Tyr1461Cys) single nucleotide variant Inborn genetic diseases [RCV003365142] Chr11:77197539 [GRCh38]
Chr11:76908584 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5113C>G (p.Pro1705Ala) single nucleotide variant not provided [RCV003332862] Chr11:77202369 [GRCh38]
Chr11:76913414 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.535_536del (p.Ser179fs) deletion Retinitis pigmentosa [RCV003459890]   pathogenic
NM_000260.4(MYO7A):c.849+19C>T single nucleotide variant not provided [RCV003873095] Chr11:77157411 [GRCh38]
Chr11:76868457 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4323+14G>C single nucleotide variant not provided [RCV003543352] Chr11:77194538 [GRCh38]
Chr11:76905583 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1555-17G>T single nucleotide variant not provided [RCV003873283] Chr11:77162836 [GRCh38]
Chr11:76873882 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6552G>T (p.Thr2184=) single nucleotide variant not provided [RCV003543203] Chr11:77213973 [GRCh38]
Chr11:76925018 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1824C>G (p.Pro608=) single nucleotide variant not provided [RCV003569902] Chr11:77172774 [GRCh38]
Chr11:76883820 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4441+1G>A single nucleotide variant not provided [RCV003570805] Chr11:77197599 [GRCh38]
Chr11:76908644 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.285+14C>T single nucleotide variant not provided [RCV003571310] Chr11:77147964 [GRCh38]
Chr11:76859010 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1080+14C>T single nucleotide variant not provided [RCV003686294] Chr11:77159537 [GRCh38]
Chr11:76870583 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3285+9A>C single nucleotide variant not provided [RCV003543266] Chr11:77182609 [GRCh38]
Chr11:76893654 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5636+1G>A single nucleotide variant not provided [RCV003571780] Chr11:77205618 [GRCh38]
Chr11:76916663 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3109-16G>A single nucleotide variant not provided [RCV003570190] Chr11:77182408 [GRCh38]
Chr11:76893453 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6414C>T (p.Val2138=) single nucleotide variant not provided [RCV003570350] Chr11:77213011 [GRCh38]
Chr11:76924056 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6355-17C>G single nucleotide variant not provided [RCV003874827] Chr11:77212935 [GRCh38]
Chr11:76923980 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4853-27_4853-18del deletion not provided [RCV003712656] Chr11:77201420..77201429 [GRCh38]
Chr11:76912465..76912474 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2282+20C>T single nucleotide variant not provided [RCV003543083] Chr11:77177663 [GRCh38]
Chr11:76888709 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1162A>C (p.Arg388=) single nucleotide variant not provided [RCV003571317] Chr11:77160244 [GRCh38]
Chr11:76871290 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2496C>T (p.Ala832=) single nucleotide variant not provided [RCV003543644] Chr11:77179863 [GRCh38]
Chr11:76890909 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1650C>T (p.Gly550=) single nucleotide variant not provided [RCV003543040] Chr11:77162948 [GRCh38]
Chr11:76873994 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4063C>T (p.His1355Tyr) single nucleotide variant not provided [RCV003872919] Chr11:77192189 [GRCh38]
Chr11:76903234 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.426C>A (p.Tyr142Ter) single nucleotide variant not provided [RCV003569318] Chr11:77156047 [GRCh38]
Chr11:76867093 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.819C>A (p.Gly273=) single nucleotide variant not provided [RCV003543042] Chr11:77157362 [GRCh38]
Chr11:76868408 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3108+5G>A single nucleotide variant not provided [RCV003872696] Chr11:77182159 [GRCh38]
Chr11:76893205 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4167T>G (p.Ala1389=) single nucleotide variant not provided [RCV003395929] Chr11:77194368 [GRCh38]
Chr11:76905413 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.580C>T (p.Pro194Ser) single nucleotide variant Auditory neuropathy [RCV003484466] Chr11:77156769 [GRCh38]
Chr11:76867815 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2070dup (p.Gly691fs) duplication Auditory neuropathy [RCV003484480] Chr11:77174889..77174890 [GRCh38]
Chr11:76885935..76885936 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.44_51dup (p.Gln18fs) duplication Usher syndrome [RCV003389535] Chr11:77142733..77142734 [GRCh38]
Chr11:76853779..76853780 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter) single nucleotide variant Usher syndrome [RCV003389552] Chr11:77208488 [GRCh38]
Chr11:76919533 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2283-8T>C single nucleotide variant not provided [RCV003390097] Chr11:77179037 [GRCh38]
Chr11:76890083 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1904G>A (p.Cys635Tyr) single nucleotide variant not provided [RCV003443964] Chr11:77172854 [GRCh38]
Chr11:76883900 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3275del (p.Gly1092fs) deletion Usher syndrome [RCV003389523] Chr11:77182588 [GRCh38]
Chr11:76893633 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5131C>G (p.Pro1711Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 11 [RCV003444513] Chr11:77202387 [GRCh38]
Chr11:76913432 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2527G>T (p.Val843Leu) single nucleotide variant not provided [RCV003482028] Chr11:77179894 [GRCh38]
Chr11:76890940 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.730C>T (p.Arg244Cys) single nucleotide variant MYO7A-related condition [RCV003394379] Chr11:77156999 [GRCh38]
Chr11:76868045 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.4017dup (p.Ala1340fs) duplication Usher syndrome [RCV003389516] Chr11:77192142..77192143 [GRCh38]
Chr11:76903187..76903188 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro) single nucleotide variant Usher syndrome [RCV003389517] Chr11:77192144 [GRCh38]
Chr11:76903189 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.5727T>G (p.Pro1909=) single nucleotide variant not provided [RCV003395930] Chr11:77206187 [GRCh38]
Chr11:76917232 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6082A>T (p.Lys2028Ter) single nucleotide variant MYO7A-related condition [RCV003410469] Chr11:77211182 [GRCh38]
Chr11:76922227 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1714A>C (p.Thr572Pro) single nucleotide variant MYO7A-related condition [RCV003393007] Chr11:77166079 [GRCh38]
Chr11:76877125 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg) single nucleotide variant Usher syndrome [RCV003389521] Chr11:77174913 [GRCh38]
Chr11:76885959 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.3504-1G>A single nucleotide variant Usher syndrome [RCV003389525] Chr11:77189343 [GRCh38]
Chr11:76900388 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.2991_2992del (p.Glu998fs) deletion Usher syndrome [RCV003389531] Chr11:77182037..77182038 [GRCh38]
Chr11:76893083..76893084 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.5129A>G (p.Lys1710Arg) single nucleotide variant MYO7A-related condition [RCV003421069] Chr11:77202385 [GRCh38]
Chr11:76913430 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1798-19C>T single nucleotide variant not provided [RCV003879153] Chr11:77172729 [GRCh38]
Chr11:76883775 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1674C>G (p.Val558=) single nucleotide variant not provided [RCV003688332] Chr11:77162972 [GRCh38]
Chr11:76874018 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2094+20G>A single nucleotide variant not provided [RCV003879412] Chr11:77174934 [GRCh38]
Chr11:76885980 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6316A>G (p.Lys2106Glu) single nucleotide variant not provided [RCV003572858] Chr11:77211899 [GRCh38]
Chr11:76922944 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6355-5T>G single nucleotide variant not provided [RCV003714882] Chr11:77212947 [GRCh38]
Chr11:76923992 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.139_161dup (p.His55fs) duplication not provided [RCV003574267] Chr11:77147801..77147802 [GRCh38]
Chr11:76858847..76858848 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4641A>G (p.Gly1547=) single nucleotide variant not provided [RCV003715311] Chr11:77199607 [GRCh38]
Chr11:76910652 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.735+20A>T single nucleotide variant not provided [RCV003824845] Chr11:77157024 [GRCh38]
Chr11:76868070 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2188-4C>T single nucleotide variant not provided [RCV003573178] Chr11:77177545 [GRCh38]
Chr11:76888591 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1381C>G (p.Leu461Val) single nucleotide variant not provided [RCV003714008] Chr11:77162157 [GRCh38]
Chr11:76873203 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5085C>T (p.Val1695=) single nucleotide variant not provided [RCV003663367] Chr11:77202341 [GRCh38]
Chr11:76913386 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6162C>T (p.Pro2054=) single nucleotide variant not provided [RCV003716340] Chr11:77211262 [GRCh38]
Chr11:76922307 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.27T>C (p.His9=) single nucleotide variant not provided [RCV003573500] Chr11:77142717 [GRCh38]
Chr11:76853763 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4677C>T (p.Ser1559=) single nucleotide variant not provided [RCV003824598] Chr11:77199643 [GRCh38]
Chr11:76910688 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6231G>C (p.Trp2077Cys) single nucleotide variant not provided [RCV003686817] Chr11:77211331 [GRCh38]
Chr11:76922376 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.6159C>T (p.Phe2053=) single nucleotide variant not provided [RCV003659873] Chr11:77211259 [GRCh38]
Chr11:76922304 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6439-3dup duplication not provided [RCV003690179] Chr11:77213852..77213853 [GRCh38]
Chr11:76924897..76924898 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.4152+11G>A single nucleotide variant not provided [RCV003715813] Chr11:77192289 [GRCh38]
Chr11:76903334 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1344-16C>T single nucleotide variant not provided [RCV003575758] Chr11:77162104 [GRCh38]
Chr11:76873150 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5271C>G (p.Leu1757=) single nucleotide variant not provided [RCV003713158] Chr11:77203162 [GRCh38]
Chr11:76914207 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1599G>A (p.Lys533=) single nucleotide variant not provided [RCV003545019] Chr11:77162897 [GRCh38]
Chr11:76873943 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5945-19C>G single nucleotide variant not provided [RCV003688381] Chr11:77208678 [GRCh38]
Chr11:76919723 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1690+20G>T single nucleotide variant not provided [RCV003574550] Chr11:77163008 [GRCh38]
Chr11:76874054 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2187+11A>G single nucleotide variant not provided [RCV003686980] Chr11:77175475 [GRCh38]
Chr11:76886521 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2694+19G>A single nucleotide variant not provided [RCV003879170] Chr11:77180500 [GRCh38]
Chr11:76891546 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3286-17C>T single nucleotide variant not provided [RCV003660723] Chr11:77183051 [GRCh38]
Chr11:76894096 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5595A>G (p.Pro1865=) single nucleotide variant not provided [RCV003547345] Chr11:77205576 [GRCh38]
Chr11:76916621 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1343+13G>A single nucleotide variant not provided [RCV003576018] Chr11:77161128 [GRCh38]
Chr11:76872174 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3985_3999del (p.Tyr1329_Gln1333del) deletion not provided [RCV003687888] Chr11:77192105..77192119 [GRCh38]
Chr11:76903150..76903164 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4324-3C>T single nucleotide variant not provided [RCV003878750] Chr11:77197478 [GRCh38]
Chr11:76908523 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4324-20C>G single nucleotide variant not provided [RCV003716622] Chr11:77197461 [GRCh38]
Chr11:76908506 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2095-13A>T single nucleotide variant not provided [RCV003875889] Chr11:77175359 [GRCh38]
Chr11:76886405 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6006G>T (p.Val2002=) single nucleotide variant not provided [RCV003714252] Chr11:77208758 [GRCh38]
Chr11:76919803 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2156G>A (p.Trp719Ter) single nucleotide variant not provided [RCV003662457] Chr11:77175433 [GRCh38]
Chr11:76886479 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4070C>T (p.Pro1357Leu) single nucleotide variant not provided [RCV003689484] Chr11:77192196 [GRCh38]
Chr11:76903241 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1176G>A (p.Leu392=) single nucleotide variant not provided [RCV003689323] Chr11:77160258 [GRCh38]
Chr11:76871304 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4330dup (p.Tyr1444fs) duplication not provided [RCV003716060] Chr11:77197484..77197485 [GRCh38]
Chr11:76908529..76908530 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.470+11C>T single nucleotide variant not provided [RCV003661583] Chr11:77156102 [GRCh38]
Chr11:76867148 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5637-15_5637-7dup duplication not provided [RCV003575908] Chr11:77206081..77206082 [GRCh38]
Chr11:76917126..76917127 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.285+13C>T single nucleotide variant not provided [RCV003875899] Chr11:77147963 [GRCh38]
Chr11:76859009 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.471-12C>G single nucleotide variant not provided [RCV003544524] Chr11:77156648 [GRCh38]
Chr11:76867694 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6238-12C>T single nucleotide variant not provided [RCV003687778] Chr11:77211809 [GRCh38]
Chr11:76922854 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.132+10C>A single nucleotide variant not provided [RCV003662360] Chr11:77142832 [GRCh38]
Chr11:76853878 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2695-4C>A single nucleotide variant not provided [RCV003575580] Chr11:77181376 [GRCh38]
Chr11:76892422 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1698G>A (p.Leu566=) single nucleotide variant not provided [RCV003687992] Chr11:77166063 [GRCh38]
Chr11:76877109 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1003+17C>G single nucleotide variant not provided [RCV003546996] Chr11:77158447 [GRCh38]
Chr11:76869493 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.850-19C>T single nucleotide variant not provided [RCV003661877] Chr11:77158258 [GRCh38]
Chr11:76869304 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3051C>T (p.Tyr1017=) single nucleotide variant not provided [RCV003715702] Chr11:77182097 [GRCh38]
Chr11:76893143 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6459C>A (p.Pro2153=) single nucleotide variant not provided [RCV003659962] Chr11:77213880 [GRCh38]
Chr11:76924925 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4568+14C>T single nucleotide variant not provided [RCV003662632] Chr11:77198635 [GRCh38]
Chr11:76909680 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2099A>G (p.Asp700Gly) single nucleotide variant not provided [RCV003546281] Chr11:77175376 [GRCh38]
Chr11:76886422 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2095-13A>G single nucleotide variant not provided [RCV003544526] Chr11:77175359 [GRCh38]
Chr11:76886405 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1081-1G>C single nucleotide variant not provided [RCV003688279] Chr11:77160162 [GRCh38]
Chr11:76871208 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.735+19G>C single nucleotide variant not provided [RCV003543954] Chr11:77157023 [GRCh38]
Chr11:76868069 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.285+20del deletion not provided [RCV003715255] Chr11:77147969 [GRCh38]
Chr11:76859015 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.312T>C (p.Ala104=) single nucleotide variant not provided [RCV003660624] Chr11:77155933 [GRCh38]
Chr11:76866979 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1343+11G>A single nucleotide variant not provided [RCV003714658] Chr11:77161126 [GRCh38]
Chr11:76872172 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2391G>A (p.Leu797=) single nucleotide variant not provided [RCV003689853] Chr11:77179758 [GRCh38]
Chr11:76890804 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2620C>T (p.Leu874=) single nucleotide variant not provided [RCV003572102] Chr11:77180407 [GRCh38]
Chr11:76891453 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2095-12T>C single nucleotide variant not provided [RCV003715117] Chr11:77175360 [GRCh38]
Chr11:76886406 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6439-7C>T single nucleotide variant not provided [RCV003690286] Chr11:77213853 [GRCh38]
Chr11:76924898 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1590C>A (p.Ser530=) single nucleotide variant not provided [RCV003686801] Chr11:77162888 [GRCh38]
Chr11:76873934 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4568+15A>T single nucleotide variant not provided [RCV003547072] Chr11:77198636 [GRCh38]
Chr11:76909681 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.666C>T (p.Asn222=) single nucleotide variant not provided [RCV003575453] Chr11:77156935 [GRCh38]
Chr11:76867981 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3522G>T (p.Gln1174His) single nucleotide variant not provided [RCV003715207] Chr11:77189362 [GRCh38]
Chr11:76900407 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2335C>A (p.Arg779=) single nucleotide variant not provided [RCV003575878] Chr11:77179097 [GRCh38]
Chr11:76890143 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4872C>T (p.Phe1624=) single nucleotide variant not provided [RCV003687003] Chr11:77201467 [GRCh38]
Chr11:76912512 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3504-10G>C single nucleotide variant not provided [RCV003688265] Chr11:77189334 [GRCh38]
Chr11:76900379 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1935+2T>C single nucleotide variant not provided [RCV003687395] Chr11:77172887 [GRCh38]
Chr11:76883933 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1798-20G>C single nucleotide variant not provided [RCV003876683] Chr11:77172728 [GRCh38]
Chr11:76883774 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3750+15_3750+16dup duplication not provided [RCV003824522] Chr11:77190152..77190153 [GRCh38]
Chr11:76901197..76901198 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.619A>C (p.Asn207His) single nucleotide variant not provided [RCV003547835] Chr11:77156888 [GRCh38]
Chr11:76867934 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.2368-16G>T single nucleotide variant not provided [RCV003575790] Chr11:77179719 [GRCh38]
Chr11:76890765 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3751-16C>T single nucleotide variant not provided [RCV003660503] Chr11:77190681 [GRCh38]
Chr11:76901726 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1768A>G (p.Lys590Glu) single nucleotide variant not provided [RCV003662188] Chr11:77166133 [GRCh38]
Chr11:76877179 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6355-14A>C single nucleotide variant not provided [RCV003876723] Chr11:77212938 [GRCh38]
Chr11:76923983 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5856+20C>T single nucleotide variant not provided [RCV003876950] Chr11:77207422 [GRCh38]
Chr11:76918467 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2905-2A>G single nucleotide variant not provided [RCV003689868] Chr11:77181949 [GRCh38]
Chr11:76892995 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_000260.4(MYO7A):c.1566C>A (p.Thr522=) single nucleotide variant not provided [RCV003547524] Chr11:77162864 [GRCh38]
Chr11:76873910 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.3109-20A>G single nucleotide variant not provided [RCV003575499] Chr11:77182404 [GRCh38]
Chr11:76893449 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.6606C>T (p.Leu2202=) single nucleotide variant not provided [RCV003877073] Chr11:77214654 [GRCh38]
Chr11:76925699 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5260C>T (p.Gln1754Ter) single nucleotide variant not provided [RCV003687529] Chr11:77203151 [GRCh38]
Chr11:76914196 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.4980G>T (p.Gly1660=) single nucleotide variant not provided [RCV003689396] Chr11:77201575 [GRCh38]
Chr11:76912620 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.5421G>A (p.Glu1807=) single nucleotide variant not provided [RCV003662209] Chr11:77204170 [GRCh38]
Chr11:76915215 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1617C>T (p.Ile539=) single nucleotide variant not provided [RCV003663139] Chr11:77162915 [GRCh38]
Chr11:76873961 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1890CTT[1] (p.Phe632del) microsatellite not provided [RCV003663484] Chr11:77172840..77172842 [GRCh38]
Chr11:76883886..76883888 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.4183C>T (p.Gln1395Ter) single nucleotide variant not provided [RCV003571956] Chr11:77194384 [GRCh38]
Chr11:76905429 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3006C>T (p.Ala1002=) single nucleotide variant not provided [RCV003573247] Chr11:77182052 [GRCh38]
Chr11:76893098 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.593-14T>A single nucleotide variant not provided [RCV003824696] Chr11:77156848 [GRCh38]
Chr11:76867894 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2555C>A (p.Ala852Asp) single nucleotide variant not provided [RCV003716660] Chr11:77179922 [GRCh38]
Chr11:76890968 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.1081-16del deletion not provided [RCV003546961] Chr11:77160144 [GRCh38]
Chr11:76871190 [GRCh37]
Chr11:11q13.5
benign
NM_000260.4(MYO7A):c.2034C>G (p.Phe678Leu) single nucleotide variant not provided [RCV003688039] Chr11:77174854 [GRCh38]
Chr11:76885900 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_000260.4(MYO7A):c.5208del (p.Lys1737fs) deletion not provided [RCV003688131] Chr11:77203098 [GRCh38]
Chr11:76914143 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.3762C>T (p.Ser1254=) single nucleotide variant not provided [RCV003546946] Chr11:77190708 [GRCh38]
Chr11:76901753 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6573T>C (p.Asp2191=) single nucleotide variant not provided [RCV003715653] Chr11:77214621 [GRCh38]
Chr11:76925666 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1003+19del deletion not provided [RCV003546997] Chr11:77158449 [GRCh38]
Chr11:76869495 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.850-11C>A single nucleotide variant not provided [RCV003716347] Chr11:77158266 [GRCh38]
Chr11:76869312 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.4296C>G (p.Ala1432=) single nucleotide variant not provided [RCV003544025] Chr11:77194497 [GRCh38]
Chr11:76905542 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.6075C>T (p.Gly2025=) single nucleotide variant not provided [RCV003689639] Chr11:77211175 [GRCh38]
Chr11:76922220 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.1690+20G>C single nucleotide variant not provided [RCV003663157] Chr11:77163008 [GRCh38]
Chr11:76874054 [GRCh37]
Chr11:11q13.5
likely benign
NM_000260.4(MYO7A):c.2589T>A (p.Tyr863Ter) single nucleotide variant not provided [RCV003572380] Chr11:77180376 [GRCh38]
Chr11:76891422 [GRCh37]
Chr11:11q13.5
pathogenic
NM_000260.4(MYO7A):c.2587-15del deletion not provided [RCV003573589] Chr11:77180359 [GRCh38]
Chr11:76891405 [GRCh37]
Chr11:11q13.5
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2813
Count of miRNA genes:837
Interacting mature miRNAs:1014
Transcripts:ENST00000409619, ENST00000409709, ENST00000409893, ENST00000458169, ENST00000458637, ENST00000467137, ENST00000481328, ENST00000481532, ENST00000526863, ENST00000605744
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
RH80322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,926,023 - 76,926,252UniSTSGRCh37
Build 361176,603,671 - 76,603,900RGDNCBI36
Celera1174,233,650 - 74,233,879RGD
Cytogenetic Map11q13.5UniSTS
GeneMap99-GB4 RH Map11274.6UniSTS
RH80831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,925,733 - 76,925,972UniSTSGRCh37
Build 361176,603,381 - 76,603,620RGDNCBI36
Celera1174,233,360 - 74,233,599RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,223,700 - 73,223,939UniSTS
GeneMap99-GB4 RH Map11277.02UniSTS
SHGC-83220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,925,512 - 76,925,704UniSTSGRCh37
Build 361176,603,160 - 76,603,352RGDNCBI36
Celera1174,233,139 - 74,233,331RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,223,479 - 73,223,671UniSTS
TNG Radiation Hybrid Map1134952.0UniSTS
D11S2103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,864,798 - 76,864,998UniSTSGRCh37
Build 361176,542,446 - 76,542,646RGDNCBI36
Celera1174,172,282 - 74,172,482RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,162,171 - 73,162,371UniSTS
SHGC-145582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,905,592 - 76,905,933UniSTSGRCh37
Build 361176,583,240 - 76,583,581RGDNCBI36
Celera1174,213,079 - 74,213,420RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,203,418 - 73,203,759UniSTS
TNG Radiation Hybrid Map1134914.0UniSTS
SHGC-146593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,905,826 - 76,906,159UniSTSGRCh37
Build 361176,583,474 - 76,583,807RGDNCBI36
Celera1174,213,313 - 74,213,646RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,203,652 - 73,203,985UniSTS
TNG Radiation Hybrid Map1134884.0UniSTS
RH79024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,925,974 - 76,926,098UniSTSGRCh37
Build 361176,603,622 - 76,603,746RGDNCBI36
Celera1174,233,601 - 74,233,725RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,223,941 - 73,224,065UniSTS
GeneMap99-GB4 RH Map11277.11UniSTS
NCBI RH Map11629.2UniSTS
MARC_11617-11618:1002744065:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,922,273 - 76,922,939UniSTSGRCh37
Build 361176,599,921 - 76,600,587RGDNCBI36
Celera1174,229,900 - 74,230,566RGD
HuRef1173,220,240 - 73,220,906UniSTS
MYO7A__6199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,925,668 - 76,926,390UniSTSGRCh37
Build 361176,603,316 - 76,604,038RGDNCBI36
Celera1174,233,295 - 74,234,017RGD
HuRef1173,223,635 - 73,224,357UniSTS
GDB:581521  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.5UniSTS
RH66537  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.5UniSTS
GeneMap99-GB4 RH Map11278.1UniSTS
NCBI RH Map11629.2UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 30 17 731 191 278 191 157 6 340 23 450 49 153 54 4
Low 2360 2652 970 416 902 262 3689 1933 3098 342 956 1490 164 1 1051 2384
Below cutoff 37 314 21 13 351 10 486 241 272 43 48 54 7 350 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB290181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG108466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U34227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U39226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U55208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U55209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000409619   ⟹   ENSP00000386635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,128,302 - 77,214,954 (+)Ensembl
RefSeq Acc Id: ENST00000409709   ⟹   ENSP00000386331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,128,246 - 77,215,241 (+)Ensembl
RefSeq Acc Id: ENST00000409893   ⟹   ENSP00000386689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,174,756 - 77,184,996 (+)Ensembl
RefSeq Acc Id: ENST00000458169   ⟹   ENSP00000417017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,179,825 - 77,215,238 (+)Ensembl
RefSeq Acc Id: ENST00000458637   ⟹   ENSP00000392185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,128,270 - 77,215,238 (+)Ensembl
RefSeq Acc Id: ENST00000467137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,184,686 - 77,191,187 (+)Ensembl
RefSeq Acc Id: ENST00000481328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,179,825 - 77,215,238 (+)Ensembl
RefSeq Acc Id: ENST00000481532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,212,535 - 77,213,918 (+)Ensembl
RefSeq Acc Id: ENST00000526863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,210,887 - 77,212,975 (+)Ensembl
RefSeq Acc Id: ENST00000605744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,203,186 - 77,215,239 (+)Ensembl
RefSeq Acc Id: ENST00000620575   ⟹   ENSP00000477640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,128,270 - 77,184,989 (+)Ensembl
RefSeq Acc Id: ENST00000660626   ⟹   ENSP00000499401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,138,185 - 77,142,822 (+)Ensembl
RefSeq Acc Id: ENST00000669443   ⟹   ENSP00000499530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,166,056 - 77,172,885 (+)Ensembl
RefSeq Acc Id: ENST00000670577   ⟹   ENSP00000499323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,175,437 - 77,215,213 (+)Ensembl
RefSeq Acc Id: NM_000260   ⟹   NP_000251
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,128,246 - 77,215,241 (+)NCBI
GRCh371176,839,302 - 76,926,286 (+)NCBI
Build 361176,516,964 - 76,603,932 (+)NCBI Archive
HuRef1173,136,682 - 73,224,253 (+)ENTREZGENE
CHM1_11176,722,561 - 76,809,502 (+)NCBI
T2T-CHM13v2.01177,058,823 - 77,147,851 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127180   ⟹   NP_001120652
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,128,246 - 77,215,241 (+)NCBI
GRCh371176,839,302 - 76,926,286 (+)NCBI
HuRef1173,136,682 - 73,224,253 (+)ENTREZGENE
CHM1_11176,722,567 - 76,809,502 (+)NCBI
T2T-CHM13v2.01177,058,823 - 77,147,851 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369365   ⟹   NP_001356294
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,128,246 - 77,215,241 (+)NCBI
T2T-CHM13v2.01177,058,823 - 77,147,851 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545044   ⟹   XP_011543346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,128,246 - 77,212,586 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545046   ⟹   XP_011543348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,212,586 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545050   ⟹   XP_011543352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,152,666 - 77,212,585 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017778   ⟹   XP_016873267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,212,586 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017779   ⟹   XP_016873268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,212,586 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017780   ⟹   XP_016873269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,215,241 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017781   ⟹   XP_016873270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,212,586 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017782   ⟹   XP_016873271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,212,585 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017783   ⟹   XP_016873272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,212,585 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017784   ⟹   XP_016873273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,215,241 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017785   ⟹   XP_016873274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,212,586 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017786   ⟹   XP_016873275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,213,036 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017787   ⟹   XP_016873276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,194,111 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017788   ⟹   XP_016873277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,215,241 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426970   ⟹   XP_047282926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,128,246 - 77,212,586 (+)NCBI
RefSeq Acc Id: XM_047426971   ⟹   XP_047282927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,128,246 - 77,212,586 (+)NCBI
RefSeq Acc Id: XM_047426972   ⟹   XP_047282928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,211,337 (+)NCBI
RefSeq Acc Id: XM_047426973   ⟹   XP_047282929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,139,389 - 77,212,586 (+)NCBI
RefSeq Acc Id: XM_047426974   ⟹   XP_047282930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,206,184 (+)NCBI
RefSeq Acc Id: XM_054368852   ⟹   XP_054224827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,904 - 77,145,196 (+)NCBI
RefSeq Acc Id: XM_054368853   ⟹   XP_054224828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,904 - 77,145,196 (+)NCBI
RefSeq Acc Id: XM_054368854   ⟹   XP_054224829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,904 - 77,145,196 (+)NCBI
RefSeq Acc Id: XM_054368855   ⟹   XP_054224830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,912 - 77,147,851 (+)NCBI
RefSeq Acc Id: XM_054368856   ⟹   XP_054224831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,058,823 - 77,145,196 (+)NCBI
RefSeq Acc Id: XM_054368857   ⟹   XP_054224832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,903 - 77,145,196 (+)NCBI
RefSeq Acc Id: XM_054368858   ⟹   XP_054224833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,905 - 77,145,195 (+)NCBI
RefSeq Acc Id: XM_054368859   ⟹   XP_054224834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,905 - 77,145,195 (+)NCBI
RefSeq Acc Id: XM_054368860   ⟹   XP_054224835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,915 - 77,147,851 (+)NCBI
RefSeq Acc Id: XM_054368861   ⟹   XP_054224836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,058,823 - 77,145,196 (+)NCBI
RefSeq Acc Id: XM_054368862   ⟹   XP_054224837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,904 - 77,145,196 (+)NCBI
RefSeq Acc Id: XM_054368863   ⟹   XP_054224838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,906 - 77,145,646 (+)NCBI
RefSeq Acc Id: XM_054368864   ⟹   XP_054224839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,058,823 - 77,145,196 (+)NCBI
RefSeq Acc Id: XM_054368865   ⟹   XP_054224840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,083,215 - 77,145,195 (+)NCBI
RefSeq Acc Id: XM_054368866   ⟹   XP_054224841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,904 - 77,143,947 (+)NCBI
RefSeq Acc Id: XM_054368867   ⟹   XP_054224842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,069,966 - 77,145,196 (+)NCBI
RefSeq Acc Id: XM_054368868   ⟹   XP_054224843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,901 - 77,138,794 (+)NCBI
RefSeq Acc Id: XM_054368869   ⟹   XP_054224844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,899 - 77,126,579 (+)NCBI
RefSeq Acc Id: XM_054368870   ⟹   XP_054224845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,916 - 77,147,851 (+)NCBI
RefSeq Acc Id: XR_001747888
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,205,617 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001747889
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,138,213 - 77,194,119 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008488400
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,901 - 77,138,227 (+)NCBI
RefSeq Acc Id: XR_008488401
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01177,068,898 - 77,126,587 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000251 (Get FASTA)   NCBI Sequence Viewer  
  NP_001120652 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356294 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543346 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543348 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543352 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873267 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873268 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873269 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873270 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873271 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873272 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873273 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873274 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873275 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873276 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873277 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282926 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282927 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282928 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282929 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282930 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224827 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224828 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224829 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224830 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224831 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224832 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224833 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224834 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224835 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224836 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224837 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224838 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224839 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224840 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224841 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224842 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224843 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224844 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224845 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA20909 (Get FASTA)   NCBI Sequence Viewer  
  AAB03679 (Get FASTA)   NCBI Sequence Viewer  
  AAC50218 (Get FASTA)   NCBI Sequence Viewer  
  AAC50722 (Get FASTA)   NCBI Sequence Viewer  
  AAC50927 (Get FASTA)   NCBI Sequence Viewer  
  AAC51150 (Get FASTA)   NCBI Sequence Viewer  
  BAD92866 (Get FASTA)   NCBI Sequence Viewer  
  BAG06735 (Get FASTA)   NCBI Sequence Viewer  
  EAW75018 (Get FASTA)   NCBI Sequence Viewer  
  EAW75019 (Get FASTA)   NCBI Sequence Viewer  
  EAW75020 (Get FASTA)   NCBI Sequence Viewer  
  EAW75021 (Get FASTA)   NCBI Sequence Viewer  
  EAW75022 (Get FASTA)   NCBI Sequence Viewer  
  EAW75023 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000386331
  ENSP00000386331.3
  ENSP00000386635
  ENSP00000386635.2
  ENSP00000386689.2
  ENSP00000392185
  ENSP00000392185.2
  ENSP00000417017.2
  ENSP00000499323.1
  ENSP00000499401.1
  ENSP00000499530.1
GenBank Protein Q13402 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000251   ⟸   NM_000260
- Peptide Label: isoform 1
- UniProtKB: Q92821 (UniProtKB/Swiss-Prot),   Q14785 (UniProtKB/Swiss-Prot),   Q13321 (UniProtKB/Swiss-Prot),   P78427 (UniProtKB/Swiss-Prot),   F8VUN5 (UniProtKB/Swiss-Prot),   B9A011 (UniProtKB/Swiss-Prot),   Q92822 (UniProtKB/Swiss-Prot),   Q13402 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001120652   ⟸   NM_001127180
- Peptide Label: isoform 2
- UniProtKB: Q13402 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543346   ⟸   XM_011545044
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011543348   ⟸   XM_011545046
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543352   ⟸   XM_011545050
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016873269   ⟸   XM_017017780
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016873277   ⟸   XM_017017788
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_016873273   ⟸   XM_017017784
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016873275   ⟸   XM_017017786
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016873268   ⟸   XM_017017779
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016873270   ⟸   XM_017017781
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016873267   ⟸   XM_017017778
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016873271   ⟸   XM_017017782
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016873272   ⟸   XM_017017783
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016873274   ⟸   XM_017017785
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016873276   ⟸   XM_017017787
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: NP_001356294   ⟸   NM_001369365
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000477640   ⟸   ENST00000620575
RefSeq Acc Id: ENSP00000499401   ⟸   ENST00000660626
RefSeq Acc Id: ENSP00000392185   ⟸   ENST00000458637
RefSeq Acc Id: ENSP00000417017   ⟸   ENST00000458169
RefSeq Acc Id: ENSP00000499530   ⟸   ENST00000669443
RefSeq Acc Id: ENSP00000386689   ⟸   ENST00000409893
RefSeq Acc Id: ENSP00000386635   ⟸   ENST00000409619
RefSeq Acc Id: ENSP00000386331   ⟸   ENST00000409709
RefSeq Acc Id: ENSP00000499323   ⟸   ENST00000670577
RefSeq Acc Id: XP_047282926   ⟸   XM_047426970
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047282927   ⟸   XM_047426971
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047282928   ⟸   XM_047426972
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047282930   ⟸   XM_047426974
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047282929   ⟸   XM_047426973
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054224831   ⟸   XM_054368856
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054224836   ⟸   XM_054368861
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054224839   ⟸   XM_054368864
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054224844   ⟸   XM_054368869
- Peptide Label: isoform X31
RefSeq Acc Id: XP_054224843   ⟸   XM_054368868
- Peptide Label: isoform X30
RefSeq Acc Id: XP_054224832   ⟸   XM_054368857
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054224828   ⟸   XM_054368853
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054224829   ⟸   XM_054368854
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054224827   ⟸   XM_054368852
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054224837   ⟸   XM_054368862
- Peptide Label: isoform X27
RefSeq Acc Id: XP_054224841   ⟸   XM_054368866
- Peptide Label: isoform X29
RefSeq Acc Id: XP_054224833   ⟸   XM_054368858
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054224834   ⟸   XM_054368859
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054224838   ⟸   XM_054368863
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054224830   ⟸   XM_054368855
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054224835   ⟸   XM_054368860
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054224845   ⟸   XM_054368870
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054224842   ⟸   XM_054368867
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054224840   ⟸   XM_054368865
- Peptide Label: isoform X14
Protein Domains
FERM   IQ   Myosin motor   MyTH4   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13402-F1-model_v2 AlphaFold Q13402 1-2215 view protein structure

Promoters
RGD ID:6789144
Promoter ID:HG_KWN:13782
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000409619,   ENST00000409893,   NM_000260,   UC001OYC.2,   UC009YUR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361176,515,711 - 76,516,211 (+)MPROMDB
RGD ID:6810068
Promoter ID:HG_ACW:13465
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:MYO7A.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361176,580,471 - 76,580,971 (+)MPROMDB
RGD ID:7221621
Promoter ID:EPDNEW_H16556
Type:initiation region
Name:MYO7A_2
Description:myosin VIIA
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16557  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,128,246 - 77,128,306EPDNEW
RGD ID:7221623
Promoter ID:EPDNEW_H16557
Type:multiple initiation site
Name:MYO7A_1
Description:myosin VIIA
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16556  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,179,752 - 77,179,812EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7606 AgrOrtholog
COSMIC MYO7A COSMIC
Ensembl Genes ENSG00000137474 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000409619 ENTREZGENE
  ENST00000409619.6 UniProtKB/Swiss-Prot
  ENST00000409709 ENTREZGENE
  ENST00000409709.9 UniProtKB/Swiss-Prot
  ENST00000409893.6 UniProtKB/TrEMBL
  ENST00000458169.2 UniProtKB/TrEMBL
  ENST00000458637 ENTREZGENE
  ENST00000458637.6 UniProtKB/Swiss-Prot
  ENST00000660626.1 UniProtKB/TrEMBL
  ENST00000669443.1 UniProtKB/TrEMBL
  ENST00000670577.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.820 UniProtKB/Swiss-Prot
  1.20.5.190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.530 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.530 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.20.240.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin VI head, motor domain, U50 subdomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137474 GTEx
HGNC ID HGNC:7606 ENTREZGENE
Human Proteome Map MYO7A Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_head_motor_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MyoVII_FERM_C1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MyoVII_FERM_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYSc_Myo7 UniProtKB/Swiss-Prot
  MyTH4_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MyTH4_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4647 UniProtKB/Swiss-Prot
NCBI Gene 4647 ENTREZGENE
OMIM 276903 OMIM
PANTHER MYOSIN VII, XV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYOSIN VIIA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MyTH4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00612 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31411 PharmGKB
PRINTS MYOSINHEAVY UniProtKB/Swiss-Prot
PROSITE FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYOSIN_MOTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYTH4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYSc UniProtKB/Swiss-Prot
  MyTH4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00015 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UJ94_HUMAN UniProtKB/TrEMBL
  A0A590UJG0_HUMAN UniProtKB/TrEMBL
  A0A590UJR8_HUMAN UniProtKB/TrEMBL
  B9A011 ENTREZGENE
  B9A012_HUMAN UniProtKB/TrEMBL
  F8VUN5 ENTREZGENE
  H7C4D8_HUMAN UniProtKB/TrEMBL
  MYO7A_HUMAN UniProtKB/Swiss-Prot
  P78427 ENTREZGENE
  Q13321 ENTREZGENE
  Q13402 ENTREZGENE
  Q14785 ENTREZGENE
  Q92821 ENTREZGENE
  Q92822 ENTREZGENE
UniProt Secondary B9A011 UniProtKB/Swiss-Prot
  F8VUN5 UniProtKB/Swiss-Prot
  P78427 UniProtKB/Swiss-Prot
  Q13321 UniProtKB/Swiss-Prot
  Q14785 UniProtKB/Swiss-Prot
  Q92821 UniProtKB/Swiss-Prot
  Q92822 UniProtKB/Swiss-Prot