MYO15A (myosin XVA) - Rat Genome Database

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Gene: MYO15A (myosin XVA) Homo sapiens
Analyze
Symbol: MYO15A
Name: myosin XVA
RGD ID: 1343693
HGNC Page HGNC:7594
Description: Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization and vesicle transport along actin filament. Predicted to act upstream of or within inner ear morphogenesis; locomotory behavior; and sensory perception of sound. Located in extracellular exosome. Implicated in autosomal recessive nonsyndromic deafness 3 and sensorineural hearing loss.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DFNB3; DKFZp686N18198; FLJ17274; FLJ31311; MYO15; myosin-XV; unconventional myosin-15; unconventional myosin-XV
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
GRCh381718,108,756 - 18,179,800 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1718,108,756 - 18,179,802 (+)EnsemblGRCh38hg38GRCh38
GRCh371718,012,070 - 18,083,114 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361717,952,745 - 18,023,841 (+)NCBINCBI36Build 36hg18NCBI36
Build 341717,952,744 - 18,023,840NCBI
Celera1718,953,160 - 19,024,251 (+)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1717,765,392 - 17,836,464 (+)NCBIHuRef
CHM1_11718,020,789 - 18,091,861 (+)NCBICHM1_1
T2T-CHM13v2.01718,055,569 - 18,126,619 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. 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.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats. Held N, etal., PLoS One. 2011 Mar 29;6(3):e15669. doi: 10.1371/journal.pone.0015669.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Wang A, etal., Science. 1998 May 29;280(5368):1447-51.
Additional References at PubMed
PMID:7704031   PMID:10552926   PMID:10915760   PMID:11583965   PMID:11735029   PMID:11997338   PMID:12114748   PMID:14702039   PMID:15590698   PMID:16169070   PMID:17546645   PMID:17853461  
PMID:19056867   PMID:19274735   PMID:19309289   PMID:19807924   PMID:20301607   PMID:20642360   PMID:21873635   PMID:22245518   PMID:22736430   PMID:23251661   PMID:23865914   PMID:24105371  
PMID:24206587   PMID:25036637   PMID:25056061   PMID:25792667   PMID:26242193   PMID:26308726   PMID:26810297   PMID:26915297   PMID:27375115   PMID:27734841   PMID:27743438   PMID:27870113  
PMID:28390610   PMID:28964305   PMID:29482514   PMID:29692870   PMID:29849560   PMID:30068307   PMID:30575818   PMID:30579064   PMID:30943474   PMID:30953472   PMID:31250571   PMID:31301639  
PMID:31581539   PMID:31898538   PMID:31997689   PMID:32416067   PMID:32802042   PMID:32987461   PMID:33078831   PMID:33208113   PMID:33372036   PMID:33398081   PMID:33626355   PMID:33784549  
PMID:33997018   PMID:34093702   PMID:34374074   PMID:34388253   PMID:34974475   PMID:35346193   PMID:36150242   PMID:36217262   PMID:37189200   PMID:38167320  


Genomics

Comparative Map Data
MYO15A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381718,108,756 - 18,179,800 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1718,108,756 - 18,179,802 (+)EnsemblGRCh38hg38GRCh38
GRCh371718,012,070 - 18,083,114 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361717,952,745 - 18,023,841 (+)NCBINCBI36Build 36hg18NCBI36
Build 341717,952,744 - 18,023,840NCBI
Celera1718,953,160 - 19,024,251 (+)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1717,765,392 - 17,836,464 (+)NCBIHuRef
CHM1_11718,020,789 - 18,091,861 (+)NCBICHM1_1
T2T-CHM13v2.01718,055,569 - 18,126,619 (+)NCBIT2T-CHM13v2.0
Myo15a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391160,360,165 - 60,419,195 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1160,360,165 - 60,419,195 (+)EnsemblGRCm39 Ensembl
GRCm381160,469,339 - 60,528,369 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1160,469,339 - 60,528,369 (+)EnsemblGRCm38mm10GRCm38
MGSCv371160,282,841 - 60,341,871 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361161,007,838 - 61,067,005 (+)NCBIMGSCv36mm8
MGSCv361160,285,534 - 60,344,564 (+)NCBIMGSCv36mm8
Celera1164,710,231 - 64,711,213 (-)NCBICelera
Cytogenetic Map11B2NCBI
cM Map1137.81NCBI
Myo15a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81045,776,907 - 45,835,473 (+)NCBIGRCr8
mRatBN7.21045,277,619 - 45,335,953 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1045,278,737 - 45,335,340 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01046,840,098 - 46,897,362 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1046,840,113 - 46,896,054 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01046,595,676 - 46,660,835 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41046,742,535 - 46,798,928 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1044,535,548 - 44,591,592 (+)NCBICelera
Cytogenetic Map10q22NCBI
Myo15a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547811,132,719 - 11,186,378 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547811,131,908 - 11,186,465 (-)NCBIChiLan1.0ChiLan1.0
LOC100971960
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21953,085,248 - 53,159,407 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11757,796,388 - 57,870,842 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01732,661,499 - 32,723,320 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11738,033,646 - 38,091,376 (-)NCBIpanpan1.1PanPan1.1panPan2
MYO15A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1541,369,484 - 41,421,303 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl541,370,509 - 41,392,881 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha541,507,455 - 41,559,211 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0541,474,709 - 41,526,462 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1541,442,539 - 41,494,282 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0541,389,966 - 41,441,709 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0541,581,821 - 41,633,567 (-)NCBIUU_Cfam_GSD_1.0
Myo15a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560261,142,863 - 61,197,568 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367411,669,680 - 1,723,891 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367411,669,680 - 1,724,929 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYO15A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11260,533,502 - 60,582,645 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MYO15A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11617,157,275 - 17,217,609 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1617,157,490 - 17,218,009 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660593,687,568 - 3,750,880 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myo15a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248493,284,085 - 3,344,759 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248493,283,180 - 3,345,456 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYO15A
1451 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016239.4(MYO15A):c.7184_7185del (p.Leu2394_Phe2395insTer) deletion Rare genetic deafness [RCV000612551]|not provided [RCV000523460] Chr17:18149551..18149552 [GRCh38]
Chr17:18052865..18052866 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3130_3147dup (p.Ile1044_Asp1049dup) duplication not provided [RCV001534812]|not specified [RCV000519816] Chr17:18121912..18121913 [GRCh38]
Chr17:18025226..18025227 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3844C>T (p.Arg1282Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128473]|not provided [RCV000521316] Chr17:18126434 [GRCh38]
Chr17:18029748 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8341G>C (p.Gly2781Arg) single nucleotide variant not provided [RCV000521663] Chr17:18155314 [GRCh38]
Chr17:18058628 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter) single nucleotide variant Hearing loss, autosomal recessive [RCV001291106]|not provided [RCV001732113] Chr17:18121256 [GRCh38]
Chr17:18024570 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000007365]|Nonsyndromic genetic hearing loss [RCV002228014] Chr17:18145935 [GRCh38]
Chr17:18049249 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000007366] Chr17:18145929 [GRCh38]
Chr17:18049243 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7801A>T (p.Lys2601Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000007367] Chr17:18151859 [GRCh38]
Chr17:18055173 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3685C>T (p.Gln1229Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000007368] Chr17:18124558 [GRCh38]
Chr17:18027872 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3756+1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000007369] Chr17:18125232 [GRCh38]
Chr17:18028546 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000007370] Chr17:18154190 [GRCh38]
Chr17:18057504 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122993]|Deafness, with smith-magenis syndrome [RCV000007371]|not provided [RCV000835662]|not specified [RCV000038978] Chr17:18148133 [GRCh38]
Chr17:18051447 [GRCh37]
Chr17:17p11.2
pathogenic|benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.3313G>T (p.Glu1105Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000007372] Chr17:18122113 [GRCh38]
Chr17:18025427 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV000007373] Chr17:18122134 [GRCh38]
Chr17:18025448 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5492G>T (p.Gly1831Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000007374] Chr17:18141104 [GRCh38]
Chr17:18044418 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8968-1G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000007375] Chr17:18158522 [GRCh38]
Chr17:18061836 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV000007376]|not provided [RCV002464058] Chr17:18178850 [GRCh38]
Chr17:18082164 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.9958_9961del (p.Asp3320fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV000007377] Chr17:18167597..18167600 [GRCh38]
Chr17:18070911..18070914 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9229+52T>C single nucleotide variant not provided [RCV001571119] Chr17:18159399 [GRCh38]
Chr17:18062713 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.32_40del (p.Ala11_Lys13del) deletion not provided [RCV000728157] Chr17:18118825..18118833 [GRCh38]
Chr17:18022139..18022147 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4990C>A (p.Gln1664Lys) single nucleotide variant not provided [RCV000727905] Chr17:18138229 [GRCh38]
Chr17:18041543 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7396-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224967]|not provided [RCV000521911] Chr17:18150835 [GRCh38]
Chr17:18054149 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.6328G>A (p.Gly2110Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002476065]|not provided [RCV000521834] Chr17:18145926 [GRCh38]
Chr17:18049240 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.10077G>A (p.Pro3359=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123266]|not provided [RCV000901400]|not specified [RCV000038964] Chr17:18167718 [GRCh38]
Chr17:18071032 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123268]|not provided [RCV000957557]|not specified [RCV000038965] Chr17:18171737 [GRCh38]
Chr17:18075051 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123270]|not provided [RCV000915194]|not specified [RCV000038966] Chr17:18173823 [GRCh38]
Chr17:18077137 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.10431T>C (p.Tyr3477=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000755583]|not provided [RCV002054725]|not specified [RCV000038967] Chr17:18173861 [GRCh38]
Chr17:18077175 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122773]|not provided [RCV000585141]|not specified [RCV000038968] Chr17:18127112 [GRCh38]
Chr17:18030426 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4206+13C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000341220]|not provided [RCV001565861]|not specified [RCV000038969] Chr17:18131544 [GRCh38]
Chr17:18034858 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.4779+9G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000357080]|not provided [RCV000891622]|not specified [RCV000038970] Chr17:18136695 [GRCh38]
Chr17:18040009 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5212-14C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000269512]|not provided [RCV001610333]|not specified [RCV000038971] Chr17:18140503 [GRCh38]
Chr17:18043817 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.5360+13G>T single nucleotide variant not provided [RCV002513519]|not specified [RCV000038972] Chr17:18140678 [GRCh38]
Chr17:18043992 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5649+14G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000285198]|not provided [RCV001636626]|not specified [RCV000038973] Chr17:18141784 [GRCh38]
Chr17:18045098 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.5826-12A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000606594]|not provided [RCV001636627]|not specified [RCV000038974] Chr17:18142744 [GRCh38]
Chr17:18046058 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.5880C>T (p.His1960=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000405699]|not provided [RCV000841384]|not specified [RCV000038975] Chr17:18142810 [GRCh38]
Chr17:18046124 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000613633]|Nonsyndromic genetic hearing loss [RCV002228153]|not provided [RCV001618235]|not specified [RCV000038976] Chr17:18143584 [GRCh38]
Chr17:18046898 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.6052G>A (p.Gly2018Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000307901]|not provided [RCV002054726]|not specified [RCV000038977] Chr17:18143875 [GRCh38]
Chr17:18047189 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.6743C>T (p.Ala2248Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124058]|not provided [RCV000884206]|not specified [RCV000038979] Chr17:18148547 [GRCh38]
Chr17:18051861 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.6788G>A (p.Gly2263Asp) single nucleotide variant Rare genetic deafness [RCV000038980] Chr17:18148784 [GRCh38]
Chr17:18052098 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000278858]|not provided [RCV002054727]|not specified [RCV000038982] Chr17:18149553 [GRCh38]
Chr17:18052867 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.7468G>A (p.Ala2490Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000348421]|not provided [RCV002054728]|not specified [RCV000038983] Chr17:18150908 [GRCh38]
Chr17:18054222 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.7503G>A (p.Thr2501=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000344867]|not provided [RCV000992398]|not specified [RCV000038984] Chr17:18151139 [GRCh38]
Chr17:18054453 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.7857G>A (p.Gly2619=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000362105]|not provided [RCV002054729]|not specified [RCV000038985] Chr17:18151915 [GRCh38]
Chr17:18055229 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.7908C>T (p.Ala2636=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124159]|not provided [RCV000841118]|not specified [RCV000038986] Chr17:18152126 [GRCh38]
Chr17:18055440 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000267439]|not provided [RCV001799615]|not specified [RCV000038987] Chr17:18152179 [GRCh38]
Chr17:18055493 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001265208]|not provided [RCV001552347]|not specified [RCV000038988] Chr17:18154132 [GRCh38]
Chr17:18057446 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_016239.4(MYO15A):c.8100del (p.Lys2701fs) deletion Rare genetic deafness [RCV000038989] Chr17:18154139 [GRCh38]
Chr17:18057453 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8262G>A (p.Thr2754=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000388398]|not provided [RCV000947776]|not specified [RCV000038990] Chr17:18155147 [GRCh38]
Chr17:18058461 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.8322C>T (p.Ser2774=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000344380]|not provided [RCV002054730]|not specified [RCV000038991] Chr17:18155207 [GRCh38]
Chr17:18058521 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.8339C>T (p.Thr2780Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000999775]|not provided [RCV000756402]|not specified [RCV000038992] Chr17:18155224 [GRCh38]
Chr17:18058538 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.8460-15C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000339170]|not provided [RCV002054731]|not specified [RCV000038993] Chr17:18156180 [GRCh38]
Chr17:18059494 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.8652G>A (p.Ala2884=) single nucleotide variant not provided [RCV001552378]|not specified [RCV000038994] Chr17:18157004 [GRCh38]
Chr17:18060318 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) single nucleotide variant Rare genetic deafness [RCV000038995]|not provided [RCV003128573] Chr17:18157209 [GRCh38]
Chr17:18060523 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9329G>A (p.Arg3110Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000355288]|not provided [RCV001852816]|not specified [RCV000038996] Chr17:18159960 [GRCh38]
Chr17:18063274 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000989772]|not provided [RCV000513683]|not specified [RCV000038997] Chr17:18161408 [GRCh38]
Chr17:18064722 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.9486C>T (p.Asp3162=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000274944]|not provided [RCV002054732]|not specified [RCV000038998] Chr17:18161416 [GRCh38]
Chr17:18064730 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.9518-11T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000311400]|not provided [RCV001650874]|not specified [RCV000038999] Chr17:18162574 [GRCh38]
Chr17:18065888 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.9691-3C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126926]|not provided [RCV000882659]|not specified [RCV000039000] Chr17:18163739 [GRCh38]
Chr17:18067053 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000677177]|MYO15A-related condition [RCV003398605]|Rare genetic deafness [RCV000039001]|not provided [RCV000766887] Chr17:18166434 [GRCh38]
Chr17:18069748 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3 copy number gain See cases [RCV000050888] Chr17:16879232..18970941 [GRCh38]
Chr17:16782546..18874254 [GRCh37]
Chr17:16723271..18814979 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 copy number loss See cases [RCV000050513] Chr17:15776915..18771753 [GRCh38]
Chr17:15680229..18675066 [GRCh37]
Chr17:15620954..18615791 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 copy number loss See cases [RCV000050602] Chr17:15898032..20620700 [GRCh38]
Chr17:15801346..20524013 [GRCh37]
Chr17:15742071..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 copy number gain See cases [RCV000050622] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 copy number loss See cases [RCV000050624] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 copy number gain See cases [RCV000051852] Chr17:15259164..20925299 [GRCh38]
Chr17:15162481..20828612 [GRCh37]
Chr17:15103206..20769204 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 copy number gain See cases [RCV000051853] Chr17:15897832..20620841 [GRCh38]
Chr17:15801146..20524154 [GRCh37]
Chr17:15741871..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 copy number gain See cases [RCV000051876] Chr17:16836827..20340442 [GRCh38]
Chr17:16740141..20243755 [GRCh37]
Chr17:16680866..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 copy number gain See cases [RCV000051855] Chr17:16656168..20390725 [GRCh38]
Chr17:16559482..20294038 [GRCh37]
Chr17:16500207..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 copy number gain See cases [RCV000051877] Chr17:16836827..20504849 [GRCh38]
Chr17:16740141..20408162 [GRCh37]
Chr17:16680866..20348754 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 copy number gain See cases [RCV000051879] Chr17:16919369..20289856 [GRCh38]
Chr17:16822683..20193169 [GRCh37]
Chr17:16763408..20133761 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 copy number gain See cases [RCV000051858] Chr17:16692462..20390725 [GRCh38]
Chr17:16595776..20294038 [GRCh37]
Chr17:16536501..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 copy number gain See cases [RCV000051860] Chr17:16713514..20582527 [GRCh38]
Chr17:16616828..20485840 [GRCh37]
Chr17:16557553..20426432 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 copy number gain See cases [RCV000051871] Chr17:16713515..20340442 [GRCh38]
Chr17:16616829..20243755 [GRCh37]
Chr17:16557554..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 copy number gain See cases [RCV000051849] Chr17:15234685..20620700 [GRCh38]
Chr17:15138002..20524013 [GRCh37]
Chr17:15078727..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 copy number gain See cases [RCV000051872] Chr17:16760817..20429770 [GRCh38]
Chr17:16664131..20333083 [GRCh37]
Chr17:16604856..20273675 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 copy number gain See cases [RCV000051873] Chr17:16760818..20504849 [GRCh38]
Chr17:16664132..20408162 [GRCh37]
Chr17:16604857..20348754 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3 copy number gain See cases [RCV000052477] Chr17:17667721..18301995 [GRCh38]
Chr17:17571035..18205309 [GRCh37]
Chr17:17511760..18146034 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 copy number loss See cases [RCV000054329] Chr17:15952071..18362819 [GRCh38]
Chr17:15855385..18266133 [GRCh37]
Chr17:15796110..18206858 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 copy number loss See cases [RCV000054330] Chr17:16060129..20620841 [GRCh38]
Chr17:15963443..20524154 [GRCh37]
Chr17:15904168..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1 copy number loss See cases [RCV000054333] Chr17:16117885..18362819 [GRCh38]
Chr17:16021199..18266133 [GRCh37]
Chr17:15961924..18206858 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16361086-18219405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]|See cases [RCV000054335] Chr17:16361086..18219405 [GRCh38]
Chr17:16264400..18122719 [GRCh37]
Chr17:16205125..18063444 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 copy number loss See cases [RCV000054337] Chr17:16760818..20390725 [GRCh38]
Chr17:16664132..20294038 [GRCh37]
Chr17:16604857..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1 copy number loss See cases [RCV000054339] Chr17:16817557..18362819 [GRCh38]
Chr17:16720871..18266133 [GRCh37]
Chr17:16661596..18206858 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 copy number loss See cases [RCV000054355] Chr17:16836827..20465067 [GRCh38]
Chr17:16740141..20368380 [GRCh37]
Chr17:16680866..20308972 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 copy number loss See cases [RCV000054356] Chr17:16858444..20340442 [GRCh38]
Chr17:16761758..20243755 [GRCh37]
Chr17:16702483..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 copy number loss See cases [RCV000054357] Chr17:16858444..20465067 [GRCh38]
Chr17:16761758..20368380 [GRCh37]
Chr17:16702483..20308972 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1 copy number loss See cases [RCV000054359] Chr17:17150076..18415759 [GRCh38]
Chr17:17053390..18319073 [GRCh37]
Chr17:16994115..18259798 [NCBI36]
Chr17:17p11.2
pathogenic
NM_016239.3(MYO15A):c.9454C>T (p.Leu3152Phe) single nucleotide variant Malignant melanoma [RCV000071360] Chr17:18161384 [GRCh38]
Chr17:18064698 [GRCh37]
Chr17:18005423 [NCBI36]
Chr17:17p11.2
not provided
NM_016239.3(MYO15A):c.10372C>T (p.Leu3458=) single nucleotide variant Malignant melanoma [RCV000071361] Chr17:18173802 [GRCh38]
Chr17:18077116 [GRCh37]
Chr17:18017841 [NCBI36]
Chr17:17p11.2
not provided
NM_016239.3(MYO15A):c.923G>A (p.Gly308Asp) single nucleotide variant Malignant melanoma [RCV000063156] Chr17:18119723 [GRCh38]
Chr17:18023037 [GRCh37]
Chr17:17963762 [NCBI36]
Chr17:17p11.2
not provided
NM_016239.3(MYO15A):c.6095G>A (p.Arg2032Gln) single nucleotide variant Malignant melanoma [RCV000063157] Chr17:18143918 [GRCh38]
Chr17:18047232 [GRCh37]
Chr17:17987957 [NCBI36]
Chr17:17p11.2
not provided
NM_016239.3(MYO15A):c.7766G>A (p.Gly2589Glu) single nucleotide variant Malignant melanoma [RCV000063158] Chr17:18151506 [GRCh38]
Chr17:18054820 [GRCh37]
Chr17:17995545 [NCBI36]
Chr17:17p11.2
not provided
NM_016239.4(MYO15A):c.7006dup (p.Gln2336fs) duplication Rare genetic deafness [RCV000038981]|not provided [RCV003238726] Chr17:18149261..18149262 [GRCh38]
Chr17:18052575..18052576 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8340+5G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224969]|not specified [RCV000603042] Chr17:18155230 [GRCh38]
Chr17:18058544 [GRCh37]
Chr17:17p11.2
pathogenic|uncertain significance
NM_016239.4(MYO15A):c.7006C>T (p.Gln2336Ter) single nucleotide variant Childhood onset hearing loss [RCV001328010] Chr17:18149265 [GRCh38]
Chr17:18052579 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) single nucleotide variant Inborn genetic diseases [RCV001266949]|Nonsyndromic genetic hearing loss [RCV002240823]|Rare genetic deafness [RCV001195428] Chr17:18167686 [GRCh38]
Chr17:18071000 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16664739-20370783) copy number gain Potocki-Lupski syndrome [RCV003236713] Chr17:16664739..20370783 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6253G>A (p.Ala2085Thr) single nucleotide variant not provided [RCV000593922] Chr17:18144572 [GRCh38]
Chr17:18047886 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4153T>G (p.Ser1385Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001333910] Chr17:18131478 [GRCh38]
Chr17:18034792 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 copy number gain See cases [RCV000133695] Chr17:16879232..20316151 [GRCh38]
Chr17:16782546..20219464 [GRCh37]
Chr17:16723271..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 copy number gain See cases [RCV000134467] Chr17:16854250..20492169 [GRCh38]
Chr17:16757564..20395482 [GRCh37]
Chr17:16698289..20336074 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1 copy number loss See cases [RCV000135862] Chr17:17788412..18333372 [GRCh38]
Chr17:17691726..18236686 [GRCh37]
Chr17:17632451..18177411 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 copy number loss See cases [RCV000135874] Chr17:17331511..20022528 [GRCh38]
Chr17:17234825..19925841 [GRCh37]
Chr17:17175550..19866433 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1 copy number loss See cases [RCV000135774] Chr17:16734588..18333372 [GRCh38]
Chr17:16637902..18236686 [GRCh37]
Chr17:16578627..18177411 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 copy number loss See cases [RCV000135996] Chr17:16879233..20390697 [GRCh38]
Chr17:16782547..20294010 [GRCh37]
Chr17:16723272..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 copy number gain See cases [RCV000135997] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 copy number loss See cases [RCV000135998] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 copy number loss See cases [RCV000136906] Chr17:16734588..20390725 [GRCh38]
Chr17:16637902..20294038 [GRCh37]
Chr17:16578627..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 copy number loss See cases [RCV000136951] Chr17:16734588..20316151 [GRCh38]
Chr17:16637902..20219464 [GRCh37]
Chr17:16578627..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3 copy number gain See cases [RCV000137171] Chr17:15210400..18280816 [GRCh38]
Chr17:15113717..18184130 [GRCh37]
Chr17:15054442..18124855 [NCBI36]
Chr17:17p12-11.2
pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 copy number loss See cases [RCV000137974] Chr17:16699816..20390725 [GRCh38]
Chr17:16603130..20294038 [GRCh37]
Chr17:16543855..20234630 [NCBI36]
Chr17:17p11.2
pathogenic|likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 copy number gain See cases [RCV000138255] Chr17:16854250..20492214 [GRCh38]
Chr17:16757564..20395527 [GRCh37]
Chr17:16698289..20336119 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-19017784)x3 copy number gain See cases [RCV000138572] Chr17:17331511..19017784 [GRCh38]
Chr17:17234825..18921097 [GRCh37]
Chr17:17175550..18861822 [NCBI36]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 copy number loss See cases [RCV000139239] Chr17:16989087..20370816 [GRCh38]
Chr17:16892401..20274129 [GRCh37]
Chr17:16833126..20214721 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3 copy number gain See cases [RCV000139243] Chr17:17748602..18551638 [GRCh38]
Chr17:17651916..18454952 [GRCh37]
Chr17:17592641..18395677 [NCBI36]
Chr17:17p11.2
likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 copy number gain See cases [RCV000139188] Chr17:16854250..20560048 [GRCh38]
Chr17:16757564..20463361 [GRCh37]
Chr17:16698289..20403953 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 copy number gain See cases [RCV000140217] Chr17:16699694..20530646 [GRCh38]
Chr17:16603008..20433959 [GRCh37]
Chr17:16543733..20374551 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 copy number loss See cases [RCV000139510] Chr17:15883037..20620700 [GRCh38]
Chr17:15786351..20524013 [GRCh37]
Chr17:15727076..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 copy number loss See cases [RCV000139558] Chr17:16656162..20390697 [GRCh38]
Chr17:16559476..20294010 [GRCh37]
Chr17:16500201..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 copy number loss See cases [RCV000141105] Chr17:17018951..20148630 [GRCh38]
Chr17:16922265..20051943 [GRCh37]
Chr17:16862990..19992535 [NCBI36]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000779209]|not provided [RCV001582700]|not specified [RCV000203018] Chr17:18143728 [GRCh38]
Chr17:18047042 [GRCh37]
Chr17:17p11.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 copy number gain See cases [RCV000140852] Chr17:16699816..20492214 [GRCh38]
Chr17:16603130..20395527 [GRCh37]
Chr17:16543855..20336119 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 copy number loss See cases [RCV000141975] Chr17:16838097..20436415 [GRCh38]
Chr17:16741411..20339728 [GRCh37]
Chr17:16682136..20280320 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1 copy number loss See cases [RCV000141729] Chr17:17067833..19019419 [GRCh38]
Chr17:16971147..18922732 [GRCh37]
Chr17:16911872..18863457 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3 copy number gain See cases [RCV000142462] Chr17:18077127..18521388 [GRCh38]
Chr17:17980441..18424702 [GRCh37]
Chr17:17921166..18365427 [NCBI36]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6403G>T (p.Val2135Leu) single nucleotide variant not provided [RCV003114367]|not specified [RCV000203212] Chr17:18146001 [GRCh38]
Chr17:18049315 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 copy number gain See cases [RCV000142075] Chr17:16858500..20570955 [GRCh38]
Chr17:16761814..20474268 [GRCh37]
Chr17:16702539..20414860 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 copy number gain See cases [RCV000142169] Chr17:15552362..19014200 [GRCh38]
Chr17:15455676..18917513 [GRCh37]
Chr17:15396401..18858238 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1 copy number loss See cases [RCV000142986] Chr17:16734588..18834703 [GRCh38]
Chr17:16637902..18738016 [GRCh37]
Chr17:16578627..18678741 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 copy number gain See cases [RCV000143381] Chr17:16696708..20492860 [GRCh38]
Chr17:16600022..20396173 [GRCh37]
Chr17:16540747..20336765 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 copy number gain See cases [RCV000143417] Chr17:16718415..20546210 [GRCh38]
Chr17:16621729..20449523 [GRCh37]
Chr17:16562454..20390115 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 copy number loss See cases [RCV000143181] Chr17:16699816..20428292 [GRCh38]
Chr17:16603130..20331605 [GRCh37]
Chr17:16543855..20272197 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 copy number loss See cases [RCV000143210] Chr17:16858500..20559337 [GRCh38]
Chr17:16761814..20462650 [GRCh37]
Chr17:16702539..20403242 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 copy number loss See cases [RCV000143177] Chr17:15883037..20658018 [GRCh38]
Chr17:15786351..20561331 [GRCh37]
Chr17:15727076..20501923 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 copy number gain See cases [RCV000143715] Chr17:16426633..20998588 [GRCh38]
Chr17:16329947..20901901 [GRCh37]
Chr17:16270672..20842493 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 copy number loss See cases [RCV000143650] Chr17:15850859..20649235 [GRCh38]
Chr17:15754173..20552548 [GRCh37]
Chr17:15694898..20493140 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 copy number loss See cases [RCV000143596] Chr17:16853120..20436482 [GRCh38]
Chr17:16756434..20339795 [GRCh37]
Chr17:16697159..20280387 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 copy number loss See cases [RCV000143485] Chr17:15729893..20510251 [GRCh38]
Chr17:15633207..20413564 [GRCh37]
Chr17:15573932..20354156 [NCBI36]
Chr17:17p12-11.2
pathogenic
NM_016239.4(MYO15A):c.8907C>T (p.Ala2969=) single nucleotide variant not specified [RCV000155864] Chr17:18157840 [GRCh38]
Chr17:18061154 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6657G>A (p.Lys2219=) single nucleotide variant not provided [RCV001569035]|not specified [RCV000155992] Chr17:18148176 [GRCh38]
Chr17:18051490 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10136C>A (p.Ser3379Ter) single nucleotide variant Rare genetic deafness [RCV000156009] Chr17:18171691 [GRCh38]
Chr17:18075005 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5964+3G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001254924]|not provided [RCV001570481]|not specified [RCV000156056] Chr17:18143622 [GRCh38]
Chr17:18046936 [GRCh37]
Chr17:17p11.2
pathogenic|uncertain significance
NM_016239.4(MYO15A):c.6669G>A (p.Ala2223=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000268143]|not provided [RCV000762237]|not specified [RCV000156109] Chr17:18148188 [GRCh38]
Chr17:18051502 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7833G>A (p.Glu2611=) single nucleotide variant not provided [RCV002056113]|not specified [RCV000156153] Chr17:18151891 [GRCh38]
Chr17:18055205 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5958G>A (p.Glu1986=) single nucleotide variant not specified [RCV000156301] Chr17:18143613 [GRCh38]
Chr17:18046927 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5851del (p.Ser1951fs) deletion Nonsyndromic genetic hearing loss [RCV000156414] Chr17:18142781 [GRCh38]
Chr17:18046095 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5934G>A (p.Gln1978=) single nucleotide variant not provided [RCV000926610]|not specified [RCV000156477] Chr17:18143589 [GRCh38]
Chr17:18046903 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5380C>T (p.Arg1794Cys) single nucleotide variant Inborn genetic diseases [RCV003343664]|not specified [RCV000156497] Chr17:18140806 [GRCh38]
Chr17:18044120 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126424]|not provided [RCV000879416]|not specified [RCV000151386] Chr17:18124531 [GRCh38]
Chr17:18027845 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3909C>T (p.Leu1303=) single nucleotide variant not provided [RCV002055992]|not specified [RCV000151388] Chr17:18126833 [GRCh38]
Chr17:18030147 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+7_4038+8del deletion not specified [RCV000151389] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4039-15C>T single nucleotide variant not specified [RCV000151390] Chr17:18131224 [GRCh38]
Chr17:18034538 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000477791]|not specified [RCV000151392] Chr17:18137652 [GRCh38]
Chr17:18040966 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128570]|not provided [RCV000911821]|not specified [RCV000151393] Chr17:18138858 [GRCh38]
Chr17:18042172 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5531+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001254925]|Rare genetic deafness [RCV000151394] Chr17:18141144 [GRCh38]
Chr17:18044458 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5886C>T (p.Tyr1962=) single nucleotide variant not provided [RCV002055993]|not specified [RCV000151397] Chr17:18142816 [GRCh38]
Chr17:18046130 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6292G>A (p.Asp2098Asn) single nucleotide variant not provided [RCV003162615]|not specified [RCV000151399] Chr17:18145890 [GRCh38]
Chr17:18049204 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys) single nucleotide variant Rare genetic deafness [RCV000151402] Chr17:18148129 [GRCh38]
Chr17:18051443 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.6864G>A (p.Ser2288=) single nucleotide variant not provided [RCV000896997]|not specified [RCV000151403] Chr17:18148860 [GRCh38]
Chr17:18052174 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6932C>A (p.Ala2311Glu) single nucleotide variant not specified [RCV000151404] Chr17:18148928 [GRCh38]
Chr17:18052242 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7068C>T (p.Asp2356=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124061]|not provided [RCV000929654]|not specified [RCV000151405] Chr17:18149327 [GRCh38]
Chr17:18052641 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7118-12C>T single nucleotide variant not specified [RCV000151406] Chr17:18149474 [GRCh38]
Chr17:18052788 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7226del (p.Pro2409fs) deletion Rare genetic deafness [RCV000151407]|not provided [RCV000255552] Chr17:18150441 [GRCh38]
Chr17:18053755 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7758G>A (p.Pro2586=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123076]|not provided [RCV000879417]|not specified [RCV000151410] Chr17:18151498 [GRCh38]
Chr17:18054812 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7893+1G>A single nucleotide variant Rare genetic deafness [RCV000151411]|not provided [RCV001723714] Chr17:18151952 [GRCh38]
Chr17:18055266 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.7893+14G>A single nucleotide variant not specified [RCV000151412] Chr17:18151965 [GRCh38]
Chr17:18055279 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002478431]|not specified [RCV000151413] Chr17:18154701 [GRCh38]
Chr17:18058015 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.8404A>G (p.Met2802Val) single nucleotide variant not specified [RCV000151416] Chr17:18155377 [GRCh38]
Chr17:18058691 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8811C>T (p.His2937=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000390879]|not provided [RCV000886033]|not specified [RCV000151418] Chr17:18157744 [GRCh38]
Chr17:18061058 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9436C>T (p.His3146Tyr) single nucleotide variant not specified [RCV000151420] Chr17:18161366 [GRCh38]
Chr17:18064680 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9517+3G>T single nucleotide variant not specified [RCV000151421] Chr17:18161450 [GRCh38]
Chr17:18064764 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9517+12A>G single nucleotide variant not specified [RCV000151422] Chr17:18161459 [GRCh38]
Chr17:18064773 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10083-4A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123267]|not provided [RCV001582621]|not specified [RCV000151429] Chr17:18171634 [GRCh38]
Chr17:18074948 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.10154T>C (p.Val3385Ala) single nucleotide variant not provided [RCV001850064]|not specified [RCV000151430] Chr17:18171709 [GRCh38]
Chr17:18075023 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.10217-3C>T single nucleotide variant not specified [RCV000151431] Chr17:18172154 [GRCh38]
Chr17:18075468 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6490T>G (p.Phe2164Val) single nucleotide variant not specified [RCV000156723] Chr17:18146088 [GRCh38]
Chr17:18049402 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224962]|not provided [RCV001550103]|not specified [RCV000156731] Chr17:18136684 [GRCh38]
Chr17:18039998 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3640C>A (p.Arg1214=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126422]|not specified [RCV000156732] Chr17:18124513 [GRCh38]
Chr17:18027827 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.3866+12G>T single nucleotide variant not specified [RCV000156863] Chr17:18126468 [GRCh38]
Chr17:18029782 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4482+10C>T single nucleotide variant not provided [RCV001570355]|not specified [RCV000156925] Chr17:18133396 [GRCh38]
Chr17:18036710 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000263636]|not provided [RCV000840173]|not specified [RCV000155188] Chr17:18126364 [GRCh38]
Chr17:18029678 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000297869]|not provided [RCV000907717]|not specified [RCV000155189] Chr17:18136626 [GRCh38]
Chr17:18039940 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.5133+15A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128571]|not provided [RCV001569624]|not specified [RCV000155190] Chr17:18138951 [GRCh38]
Chr17:18042265 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001000460]|not provided [RCV000487626]|not specified [RCV000155191] Chr17:18140592 [GRCh38]
Chr17:18043906 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000392702]|Inborn genetic diseases [RCV001267002]|not provided [RCV000973973]|not specified [RCV000155192] Chr17:18142183 [GRCh38]
Chr17:18045497 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5894G>A (p.Arg1965His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126623]|not provided [RCV000880036]|not specified [RCV000155193] Chr17:18142824 [GRCh38]
Chr17:18046138 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6192G>A (p.Gly2064=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000271670]|not provided [RCV001707540]|not specified [RCV000155194] Chr17:18144511 [GRCh38]
Chr17:18047825 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6336C>T (p.Tyr2112=) single nucleotide variant not provided [RCV000827086]|not specified [RCV000155195] Chr17:18145934 [GRCh38]
Chr17:18049248 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001001965]|not provided [RCV000840090]|not specified [RCV000151387] Chr17:18125231 [GRCh38]
Chr17:18028545 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4655+11G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126508]|not provided [RCV001558140]|not specified [RCV000151391] Chr17:18136486 [GRCh38]
Chr17:18039800 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.5532-10C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123946]|not provided [RCV000885092]|not specified [RCV000151395] Chr17:18141643 [GRCh38]
Chr17:18044957 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000337042]|not provided [RCV000726551]|not specified [RCV000151396] Chr17:18142796 [GRCh38]
Chr17:18046110 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6046+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001799510]|Rare genetic deafness [RCV000151398]|not provided [RCV001536291] Chr17:18143797 [GRCh38]
Chr17:18047111 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.6112C>T (p.Arg2038Cys) single nucleotide variant not provided [RCV001450198]|not specified [RCV000151400] Chr17:18143935 [GRCh38]
Chr17:18047249 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000362567]|not provided [RCV000726128]|not specified [RCV000151401] Chr17:18144505 [GRCh38]
Chr17:18047819 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000477852]|not provided [RCV000958415]|not specified [RCV000151408] Chr17:18150737 [GRCh38]
Chr17:18054051 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=) single nucleotide variant not provided [RCV002243825]|not specified [RCV000151409] Chr17:18151405 [GRCh38]
Chr17:18054719 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000289377]|not provided [RCV000762238]|not specified [RCV000151415] Chr17:18155154 [GRCh38]
Chr17:18058468 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002492559]|Inborn genetic diseases [RCV002516042]|not provided [RCV001657857]|not specified [RCV000151417] Chr17:18157060 [GRCh38]
Chr17:18060374 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile) single nucleotide variant Inborn genetic diseases [RCV003362693]|not provided [RCV000724271]|not specified [RCV000151419] Chr17:18159953 [GRCh38]
Chr17:18063267 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9593T>C (p.Ile3198Thr) single nucleotide variant not provided [RCV000992399]|not specified [RCV000151423] Chr17:18162660 [GRCh38]
Chr17:18065974 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000272638]|not provided [RCV000947777]|not specified [RCV000151424] Chr17:18163759 [GRCh38]
Chr17:18067073 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000327740]|Inborn genetic diseases [RCV002516043]|not provided [RCV000973745]|not specified [RCV000151425] Chr17:18163805 [GRCh38]
Chr17:18067119 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9812G>A (p.Arg3271His) single nucleotide variant not provided [RCV001847782]|not specified [RCV000151426] Chr17:18166385 [GRCh38]
Chr17:18069699 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9873C>T (p.Leu3291=) single nucleotide variant not provided [RCV000827004]|not specified [RCV000151427] Chr17:18166446 [GRCh38]
Chr17:18069760 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.9998G>A (p.Arg3333Gln) single nucleotide variant Nonsyndromic genetic hearing loss [RCV002228540]|not provided [RCV000896436]|not specified [RCV000151428] Chr17:18167639 [GRCh38]
Chr17:18070953 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His) single nucleotide variant not provided [RCV000726301]|not specified [RCV000155196] Chr17:18148781 [GRCh38]
Chr17:18052095 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.8714-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000477929]|Rare genetic deafness [RCV000155197]|not provided [RCV002514987] Chr17:18157155 [GRCh38]
Chr17:18060469 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.9948+11G>A single nucleotide variant not specified [RCV000155198] Chr17:18166532 [GRCh38]
Chr17:18069846 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9982A>C (p.Ser3328Arg) single nucleotide variant not specified [RCV000155199] Chr17:18167623 [GRCh38]
Chr17:18070937 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123269]|not provided [RCV000954756]|not specified [RCV000155200] Chr17:18172182 [GRCh38]
Chr17:18075496 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000999803]|not provided [RCV000755584]|not specified [RCV000155373] Chr17:18148792 [GRCh38]
Chr17:18052106 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.2984_2991del (p.Glu995fs) deletion not provided [RCV000202813] Chr17:18121783..18121790 [GRCh38]
Chr17:18025097..18025104 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126235]|not provided [RCV000724577]|not specified [RCV000213326] Chr17:18119623 [GRCh38]
Chr17:18022937 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000371964]|not provided [RCV000724682]|not specified [RCV000218897] Chr17:18121218 [GRCh38]
Chr17:18024532 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122571]|Global developmental delay [RCV000735396]|not provided [RCV000724197]|not specified [RCV000223359] Chr17:18120254 [GRCh38]
Chr17:18023568 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu) single nucleotide variant Inborn genetic diseases [RCV003372635]|not provided [RCV000175876] Chr17:18121025 [GRCh38]
Chr17:18024339 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000606417]|not provided [RCV002056945]|not specified [RCV000219351] Chr17:18120583 [GRCh38]
Chr17:18023897 [GRCh37]
Chr17:17p11.2
benign|likely benign|not provided
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124160]|Hearing impairment [RCV001375127]|Inborn genetic diseases [RCV002515265]|not provided [RCV000724328]|not specified [RCV000220279] Chr17:18153792 [GRCh38]
Chr17:18057106 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000316514]|not provided [RCV000724786]|not specified [RCV000180338] Chr17:18130805 [GRCh38]
Chr17:18034119 [GRCh37]
Chr17:17p11.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122994]|not provided [RCV000177567] Chr17:18148142 [GRCh38]
Chr17:18051456 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV000185530]|not provided [RCV001657964] Chr17:18122105..18122106 [GRCh38]
Chr17:18025419..18025420 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000185531]|not provided [RCV000255905]|not specified [RCV000216211] Chr17:18143580 [GRCh38]
Chr17:18046894 [GRCh37]
Chr17:17p11.2
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000185567]|not provided [RCV001449238]|not specified [RCV000507566] Chr17:18167695 [GRCh38]
Chr17:18071009 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000390668]|not provided [RCV000362350] Chr17:18151169 [GRCh38]
Chr17:18054483 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.2790C>T (p.Asp930=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000292458]|not provided [RCV000898322]|not specified [RCV000299631] Chr17:18121590 [GRCh38]
Chr17:18024904 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.6764+2T>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000778490]|Rare genetic deafness [RCV000600824]|not provided [RCV000369680] Chr17:18148570 [GRCh38]
Chr17:18051884 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9518-10G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000370766]|not provided [RCV000920910]|not specified [RCV000309492] Chr17:18162575 [GRCh38]
Chr17:18065889 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.3866+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224964]|not provided [RCV000373141] Chr17:18126457 [GRCh38]
Chr17:18029771 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1 copy number loss See cases [RCV000449069] Chr17:16603130..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6170A>C (p.His2057Pro) single nucleotide variant not provided [RCV001762461]|not specified [RCV000219477] Chr17:18143993 [GRCh38]
Chr17:18047307 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126236]|not provided [RCV001697217]|not specified [RCV000219479] Chr17:18119629 [GRCh38]
Chr17:18022943 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.10076C>T (p.Pro3359Leu) single nucleotide variant not specified [RCV000223624] Chr17:18167717 [GRCh38]
Chr17:18071031 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003133185]|Rare genetic deafness [RCV000215334]|not specified [RCV002298530] Chr17:18146035 [GRCh38]
Chr17:18049349 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.876C>T (p.Pro292=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000407530]|not provided [RCV001722149]|not specified [RCV000219642] Chr17:18119676 [GRCh38]
Chr17:18022990 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.10228G>C (p.Ala3410Pro) single nucleotide variant Inborn genetic diseases [RCV002517571]|not provided [RCV001853466]|not specified [RCV000221932] Chr17:18172168 [GRCh38]
Chr17:18075482 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.915C>T (p.Tyr305=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126238]|not provided [RCV000908664]|not specified [RCV000221993] Chr17:18119715 [GRCh38]
Chr17:18023029 [GRCh37]
Chr17:17p11.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.8602-8_8602-5del deletion not provided [RCV002518173]|not specified [RCV000213100] Chr17:18156945..18156948 [GRCh38]
Chr17:18060259..18060262 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128474]|not provided [RCV002517573]|not specified [RCV000217232] Chr17:18126456 [GRCh38]
Chr17:18029770 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000999865]|not provided [RCV000733672]|not specified [RCV000219805] Chr17:18124532 [GRCh38]
Chr17:18027846 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn) single nucleotide variant not provided [RCV003227719]|not specified [RCV000222212] Chr17:18131296 [GRCh38]
Chr17:18034610 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3005C>A (p.Thr1002Asn) single nucleotide variant not specified [RCV000213180] Chr17:18121805 [GRCh38]
Chr17:18025119 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5100C>T (p.Thr1700=) single nucleotide variant not provided [RCV000841812]|not specified [RCV000213253] Chr17:18138903 [GRCh38]
Chr17:18042217 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6624G>A (p.Pro2208=) single nucleotide variant not specified [RCV000217459] Chr17:18148143 [GRCh38]
Chr17:18051457 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224963]|not specified [RCV000219873] Chr17:18148139 [GRCh38]
Chr17:18051453 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1047C>T (p.Tyr349=) single nucleotide variant not provided [RCV001589116]|not specified [RCV000222286] Chr17:18119847 [GRCh38]
Chr17:18023161 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9025C>T (p.Pro3009Ser) single nucleotide variant not specified [RCV000222316] Chr17:18158580 [GRCh38]
Chr17:18061894 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000279765]|not provided [RCV000963809]|not specified [RCV000213458] Chr17:18121262 [GRCh38]
Chr17:18024576 [GRCh37]
Chr17:17p11.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3658G>C (p.Gly1220Arg) single nucleotide variant not provided [RCV000894118]|not specified [RCV000217524] Chr17:18124531 [GRCh38]
Chr17:18027845 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126421]|not provided [RCV001589134]|not specified [RCV000213556] Chr17:18124495 [GRCh38]
Chr17:18027809 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr) single nucleotide variant Inborn genetic diseases [RCV002517574]|not provided [RCV002057169]|not specified [RCV000217620] Chr17:18133328 [GRCh38]
Chr17:18036642 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000326631]|Rare genetic deafness [RCV000217646]|not provided [RCV000413658] Chr17:18163251 [GRCh38]
Chr17:18066565 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000284096]|not provided [RCV001576266]|not specified [RCV000217710] Chr17:18141138 [GRCh38]
Chr17:18044452 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr) single nucleotide variant Inborn genetic diseases [RCV003258705]|not provided [RCV000727436]|not specified [RCV000220111] Chr17:18119069 [GRCh38]
Chr17:18022383 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001374672]|not provided [RCV003148682]|not specified [RCV000215427] Chr17:18142122 [GRCh38]
Chr17:18045436 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001286719]|Inborn genetic diseases [RCV002519610]|not provided [RCV000732203]|not specified [RCV000215439] Chr17:18149328 [GRCh38]
Chr17:18052642 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4954C>T (p.Leu1652=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000367391]|not provided [RCV002054380]|not specified [RCV000217929] Chr17:18138193 [GRCh38]
Chr17:18041507 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.3413A>G (p.Gln1138Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123769]|not provided [RCV002054379]|not specified [RCV000213849] Chr17:18122213 [GRCh38]
Chr17:18025527 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.869A>G (p.Tyr290Cys) single nucleotide variant not specified [RCV000218048] Chr17:18119669 [GRCh38]
Chr17:18022983 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) single nucleotide variant Nonsyndromic genetic hearing loss [RCV002229766]|not provided [RCV000428684]|not specified [RCV000220411] Chr17:18121038 [GRCh38]
Chr17:18024352 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.4354G>A (p.Ala1452Thr) single nucleotide variant not specified [RCV000213957] Chr17:18133258 [GRCh38]
Chr17:18036572 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.467T>C (p.Val156Ala) single nucleotide variant not provided [RCV002057170]|not specified [RCV000215685] Chr17:18119267 [GRCh38]
Chr17:18022581 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000320319]|not provided [RCV000953370]|not specified [RCV000215756] Chr17:18120828 [GRCh38]
Chr17:18024142 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000989769]|not provided [RCV000835661]|not specified [RCV000215816] Chr17:18121826 [GRCh38]
Chr17:18025140 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002500713]|not provided [RCV000585396]|not specified [RCV000220520] Chr17:18119147..18119155 [GRCh38]
Chr17:18022461..18022469 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5568G>A (p.Pro1856=) single nucleotide variant not provided [RCV001582728]|not specified [RCV000220653] Chr17:18141689 [GRCh38]
Chr17:18045003 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5870C>A (p.Ser1957Tyr) single nucleotide variant not specified [RCV000215827] Chr17:18142800 [GRCh38]
Chr17:18046114 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8329T>C (p.Phe2777Leu) single nucleotide variant not specified [RCV000218330] Chr17:18155214 [GRCh38]
Chr17:18058528 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.931G>T (p.Asp311Tyr) single nucleotide variant not provided [RCV002517577]|not specified [RCV000220674] Chr17:18119731 [GRCh38]
Chr17:18023045 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3140C>G (p.Pro1047Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123764]|not provided [RCV000835028]|not specified [RCV000220805] Chr17:18121940 [GRCh38]
Chr17:18025254 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.9123C>G (p.Ser3041=) single nucleotide variant not specified [RCV000222443] Chr17:18158964 [GRCh38]
Chr17:18062278 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7685C>T (p.Ser2562Phe) single nucleotide variant not provided [RCV001857744]|not specified [RCV000214260] Chr17:18151425 [GRCh38]
Chr17:18054739 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000305968]|not provided [RCV000965372]|not specified [RCV000214262] Chr17:18135761 [GRCh38]
Chr17:18039075 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.6060C>T (p.Ala2020=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127023]|not provided [RCV000930267]|not specified [RCV000214323] Chr17:18143883 [GRCh38]
Chr17:18047197 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.1103_1105del (p.Tyr368del) deletion not specified [RCV000218392] Chr17:18119901..18119903 [GRCh38]
Chr17:18023215..18023217 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4484C>T (p.Thr1495Met) single nucleotide variant not provided [RCV001853415]|not specified [RCV000220894] Chr17:18135712 [GRCh38]
Chr17:18039026 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.1158C>T (p.Gly386=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128288]|not provided [RCV000899324]|not specified [RCV000222609] Chr17:18119958 [GRCh38]
Chr17:18023272 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.9303+1G>T single nucleotide variant Rare genetic deafness [RCV000218653]|not provided [RCV001818513] Chr17:18159680 [GRCh38]
Chr17:18062994 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.5804G>T (p.Arg1935Leu) single nucleotide variant not specified [RCV000222732] Chr17:18142233 [GRCh38]
Chr17:18045547 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2015C>G (p.Ser672Cys) single nucleotide variant Inborn genetic diseases [RCV002517572]|not specified [RCV000216443] Chr17:18120815 [GRCh38]
Chr17:18024129 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000778491]|Hearing impairment [RCV001375259]|Inborn genetic diseases [RCV000623670]|Rare genetic deafness [RCV000218811]|not provided [RCV000429443] Chr17:18154714 [GRCh38]
Chr17:18058028 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.3999C>T (p.Ala1333=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122775]|not provided [RCV000894458]|not specified [RCV000221194] Chr17:18127132 [GRCh38]
Chr17:18030446 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4407T>C (p.Ser1469=) single nucleotide variant not provided [RCV001561524]|not specified [RCV000222909] Chr17:18133311 [GRCh38]
Chr17:18036625 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000613452]|not provided [RCV002057075]|not specified [RCV000222997] Chr17:18120699 [GRCh38]
Chr17:18024013 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.8045A>T (p.Tyr2682Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000317870]|not provided [RCV002054381]|not specified [RCV000214657] Chr17:18153853 [GRCh38]
Chr17:18057167 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) single nucleotide variant not provided [RCV000735061]|not specified [RCV000214688] Chr17:18159299 [GRCh38]
Chr17:18062613 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6957-13C>A single nucleotide variant not specified [RCV000216600] Chr17:18149203 [GRCh38]
Chr17:18052517 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124372]|not provided [RCV000757540]|not specified [RCV000218979] Chr17:18178850 [GRCh38]
Chr17:18082164 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001265207]|not provided [RCV000727907]|not specified [RCV000221305] Chr17:18136462 [GRCh38]
Chr17:18039776 [GRCh37]
Chr17:17p11.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His) single nucleotide variant not provided [RCV000992395]|not specified [RCV000221367] Chr17:18171676 [GRCh38]
Chr17:18074990 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys) single nucleotide variant Inborn genetic diseases [RCV002517576]|not provided [RCV002057171]|not specified [RCV000223122] Chr17:18142823 [GRCh38]
Chr17:18046137 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000351080]|not provided [RCV000954505]|not specified [RCV000223138] Chr17:18121362 [GRCh38]
Chr17:18024676 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.1149C>T (p.Gly383=) single nucleotide variant not provided [RCV003114378]|not specified [RCV000214816] Chr17:18119949 [GRCh38]
Chr17:18023263 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5301G>A (p.Ala1767=) single nucleotide variant not provided [RCV002057119]|not specified [RCV000216608] Chr17:18140606 [GRCh38]
Chr17:18043920 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000279962]|Hearing impairment [RCV001375389]|not provided [RCV000584894]|not specified [RCV000216704] Chr17:18171736 [GRCh38]
Chr17:18075050 [GRCh37]
Chr17:17p11.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000600893]|not provided [RCV002054378]|not specified [RCV000216733] Chr17:18120952 [GRCh38]
Chr17:18024266 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly) single nucleotide variant not provided [RCV002517575]|not specified [RCV000219098] Chr17:18142232 [GRCh38]
Chr17:18045546 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.1387A>G (p.Met463Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128291]|not provided [RCV000886638]|not specified [RCV000219120] Chr17:18120187 [GRCh38]
Chr17:18023501 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7431G>A (p.Gln2477=) single nucleotide variant not specified [RCV000221522] Chr17:18150871 [GRCh38]
Chr17:18054185 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV000851286]|Rare genetic deafness [RCV000223213]|not provided [RCV001853427] Chr17:18119978..18119979 [GRCh38]
Chr17:18023292..18023293 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000762983]|Rare genetic deafness [RCV000214976] Chr17:18142826 [GRCh38]
Chr17:18046140 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10457C>T (p.Ala3486Val) single nucleotide variant not specified [RCV000215056] Chr17:18173887 [GRCh38]
Chr17:18077201 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.264G>A (p.Thr88=) single nucleotide variant not provided [RCV002517484]|not specified [RCV000216839] Chr17:18119064 [GRCh38]
Chr17:18022378 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4109G>A (p.Arg1370His) single nucleotide variant not specified [RCV000216844] Chr17:18131309 [GRCh38]
Chr17:18034623 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8088+5C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000263807]|not provided [RCV002057076]|not specified [RCV000221604] Chr17:18153901 [GRCh38]
Chr17:18057215 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.4987G>A (p.Asp1663Asn) single nucleotide variant not specified [RCV000221695] Chr17:18138226 [GRCh38]
Chr17:18041540 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6691+6dup duplication not specified [RCV000221750] Chr17:18148215..18148216 [GRCh38]
Chr17:18051529..18051530 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1762C>A (p.Arg588=) single nucleotide variant not specified [RCV000223369] Chr17:18120562 [GRCh38]
Chr17:18023876 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7473+10G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000391777]|not provided [RCV000892677]|not specified [RCV000215201] Chr17:18150923 [GRCh38]
Chr17:18054237 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128290]|not provided [RCV000884205]|not specified [RCV000217005] Chr17:18120185 [GRCh38]
Chr17:18023499 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.7386C>T (p.Ala2462=) single nucleotide variant not specified [RCV000217067] Chr17:18150756 [GRCh38]
Chr17:18054070 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000392767]|not provided [RCV001554937]|not specified [RCV000219329] Chr17:18173833 [GRCh38]
Chr17:18077147 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126509]|not provided [RCV001853467]|not specified [RCV000219352] Chr17:18136676 [GRCh38]
Chr17:18039990 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6178-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000227956] Chr17:18144495 [GRCh38]
Chr17:18047809 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000229545]|not provided [RCV001762553]|not specified [RCV000825969] Chr17:18131308 [GRCh38]
Chr17:18034622 [GRCh37]
Chr17:17p11.2
pathogenic|uncertain significance
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000230123]|not provided [RCV003233511] Chr17:18142238 [GRCh38]
Chr17:18045552 [GRCh37]
Chr17:17p11.2
pathogenic|uncertain significance
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000230303] Chr17:18148108 [GRCh38]
Chr17:18051422 [GRCh37]
Chr17:17p11.2
pathogenic|uncertain significance
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC insertion Autosomal recessive nonsyndromic hearing loss 3 [RCV000225024] Chr17:17p11.2 pathogenic
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000225053]|not provided [RCV002288909] Chr17:18149575 [GRCh38]
Chr17:18052889 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000225063] Chr17:18145938 [GRCh38]
Chr17:18049252 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000225089] Chr17:18156202 [GRCh38]
Chr17:18059516 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000225093] Chr17:18155225 [GRCh38]
Chr17:18058539 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.742C>G (p.Arg248Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000231728] Chr17:18119542 [GRCh38]
Chr17:18022856 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000310430]|not provided [RCV000969313]|not specified [RCV000356908] Chr17:18121823 [GRCh38]
Chr17:18025137 [GRCh37]
Chr17:17p11.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000233062] Chr17:18143969 [GRCh38]
Chr17:18047283 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000233468] Chr17:18137584 [GRCh38]
Chr17:18040898 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000226627] Chr17:18127077 [GRCh38]
Chr17:18030391 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.5335del (p.Leu1779fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV000227379] Chr17:18140639 [GRCh38]
Chr17:18043953 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000757539]|not provided [RCV001855894] Chr17:18122158 [GRCh38]
Chr17:18025472 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000756403] Chr17:18148069 [GRCh38]
Chr17:18051383 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7400G>A (p.Arg2467Gln) single nucleotide variant not specified [RCV000599785] Chr17:18150840 [GRCh38]
Chr17:18054154 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000312671]|Childhood onset hearing loss [RCV001543604]|not provided [RCV000959372]|not specified [RCV000323567] Chr17:18138127 [GRCh38]
Chr17:18041441 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 copy number gain See cases [RCV000240104] Chr17:15767020..20261250 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_016239.4(MYO15A):c.6980C>T (p.Ser2327Leu) single nucleotide variant not provided [RCV000519334] Chr17:18149239 [GRCh38]
Chr17:18052553 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1 copy number loss See cases [RCV000239910] Chr17:17053390..19893098 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6046+18G>A single nucleotide variant not specified [RCV000251126] Chr17:18143814 [GRCh38]
Chr17:18047128 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1 copy number loss See cases [RCV000240274] Chr17:16654302..20261250 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7655-17G>A single nucleotide variant not provided [RCV001660333]|not specified [RCV000247288] Chr17:18151378 [GRCh38]
Chr17:18054692 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122475]|not provided [RCV000726060]|not specified [RCV000245052] Chr17:18118854 [GRCh38]
Chr17:18022168 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.1854C>T (p.Asp618=) single nucleotide variant not specified [RCV000247834] Chr17:18120654 [GRCh38]
Chr17:18023968 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.894C>G (p.Pro298=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000282224] Chr17:18119694 [GRCh38]
Chr17:18023008 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9792G>A (p.Gln3264=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000283316]|not provided [RCV000832789]|not specified [RCV000600296] Chr17:18166365 [GRCh38]
Chr17:18069679 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.671A>G (p.Tyr224Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000283672] Chr17:18119471 [GRCh38]
Chr17:18022785 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2020C>T (p.Pro674Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000267604]|not provided [RCV000902792] Chr17:18120820 [GRCh38]
Chr17:18024134 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000304083]|Inborn genetic diseases [RCV002522920]|not provided [RCV001582964]|not specified [RCV000614865] Chr17:18157749 [GRCh38]
Chr17:18061063 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.3623G>A (p.Arg1208His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000304539]|not provided [RCV003326409] Chr17:18124496 [GRCh38]
Chr17:18027810 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.*747T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000268377] Chr17:18179617 [GRCh38]
Chr17:18082931 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.-76A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000272134]|not provided [RCV001675815] Chr17:18118725 [GRCh38]
Chr17:18022039 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.*612C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000272312] Chr17:18179482 [GRCh38]
Chr17:18082796 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000289712]|not provided [RCV001551433] Chr17:18119284 [GRCh38]
Chr17:18022598 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4142+12C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000290782] Chr17:18131354 [GRCh38]
Chr17:18034668 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.4038+6_4038+7insTG insertion Nonsyndromic Hearing Loss, Recessive [RCV000274657] Chr17:18130816..18130817 [GRCh38]
Chr17:18034130..18034131 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.8225-13T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000292858] Chr17:18155097 [GRCh38]
Chr17:18058411 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000293544]|not provided [RCV002522919]|not specified [RCV000610556] Chr17:18150876 [GRCh38]
Chr17:18054190 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6012G>A (p.Pro2004=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000276208] Chr17:18143762 [GRCh38]
Chr17:18047076 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9602G>A (p.Arg3201Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000276008]|Inborn genetic diseases [RCV002522921] Chr17:18162669 [GRCh38]
Chr17:18065983 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+8GT[29] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000294473]|not provided [RCV001672534] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.3(MYO15A):c.-327C>T single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000260172] Chr17:18108717 [GRCh38]
Chr17:18012031 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.-203C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000276945]|not provided [RCV001568775] Chr17:18118598 [GRCh38]
Chr17:18021912 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.-227G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000299033] Chr17:18108817 [GRCh38]
Chr17:18012131 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2287C>T (p.Arg763Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000319567]|Inborn genetic diseases [RCV002521097]|not provided [RCV002521096] Chr17:18121087 [GRCh38]
Chr17:18024401 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.4597-9C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000342181]|not provided [RCV001566690] Chr17:18136408 [GRCh38]
Chr17:18039722 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.9948+11G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000343107]|not provided [RCV002061219] Chr17:18166532 [GRCh38]
Chr17:18069846 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.7550C>G (p.Thr2517Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000365435]|not provided [RCV000888922] Chr17:18151186 [GRCh38]
Chr17:18054500 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.3012A>G (p.Ser1004=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000390808]|not provided [RCV001660660]|not specified [RCV000613260] Chr17:18121812 [GRCh38]
Chr17:18025126 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000268992]|not provided [RCV000969312]|not specified [RCV000613742] Chr17:18120591 [GRCh38]
Chr17:18023905 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.3989G>A (p.Arg1330His) single nucleotide variant not provided [RCV000268390] Chr17:18127122 [GRCh38]
Chr17:18030436 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224965]|not provided [RCV000270527]|not specified [RCV003330628] Chr17:18148153 [GRCh38]
Chr17:18051467 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.6274-10C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000322143]|not provided [RCV000897523]|not specified [RCV000601103] Chr17:18145862 [GRCh38]
Chr17:18049176 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.8431G>A (p.Gly2811Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000392531] Chr17:18155404 [GRCh38]
Chr17:18058718 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6559C>T (p.Arg2187Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000358118] Chr17:18148078 [GRCh38]
Chr17:18051392 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.932A>C (p.Asp311Ala) single nucleotide variant not provided [RCV000304901] Chr17:18119732 [GRCh38]
Chr17:18023046 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126234]|not provided [RCV000725020] Chr17:18119530 [GRCh38]
Chr17:18022844 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.1323G>A (p.Ala441=) single nucleotide variant not provided [RCV000375536] Chr17:18120123 [GRCh38]
Chr17:18023437 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.*628C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000322458] Chr17:18179498 [GRCh38]
Chr17:18082812 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.6689A>G (p.Asn2230Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000323318] Chr17:18148208 [GRCh38]
Chr17:18051522 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.642C>T (p.Phe214=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000323511]|not specified [RCV000825788] Chr17:18119442 [GRCh38]
Chr17:18022756 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.2259G>T (p.Ala753=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000280437] Chr17:18121059 [GRCh38]
Chr17:18024373 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.*117C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000370420] Chr17:18178987 [GRCh38]
Chr17:18082301 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5965-8C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000370537]|not provided [RCV000902356] Chr17:18143707 [GRCh38]
Chr17:18047021 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.1602C>T (p.Phe534=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000396225]|not provided [RCV001566209]|not specified [RCV000825789] Chr17:18120402 [GRCh38]
Chr17:18023716 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.5007+7C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000277670]|not provided [RCV000896045] Chr17:18138253 [GRCh38]
Chr17:18041567 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.-219-14T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000370147]|not provided [RCV001613033] Chr17:18118568 [GRCh38]
Chr17:18021882 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.7786A>G (p.Arg2596Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000302655] Chr17:18151526 [GRCh38]
Chr17:18054840 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128384]|not provided [RCV000959371]|not specified [RCV000344724] Chr17:18121480 [GRCh38]
Chr17:18024794 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.*920G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000373721] Chr17:18179790 [GRCh38]
Chr17:18083104 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.8108G>C (p.Ser2703Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000318593] Chr17:18154150 [GRCh38]
Chr17:18057464 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001002063]|not provided [RCV000312691] Chr17:18136443 [GRCh38]
Chr17:18039757 [GRCh37]
Chr17:17p11.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.*497G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000307410] Chr17:18179367 [GRCh38]
Chr17:18082681 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5224C>T (p.Leu1742Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000328698] Chr17:18140529 [GRCh38]
Chr17:18043843 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7396-8C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000374597]|not provided [RCV000488028]|not specified [RCV000599829] Chr17:18150828 [GRCh38]
Chr17:18054142 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003129821]|Inborn genetic diseases [RCV002521936]|not provided [RCV000281935] Chr17:18119677 [GRCh38]
Chr17:18022991 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.-33G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000329538] Chr17:18118768 [GRCh38]
Chr17:18022082 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.-173T>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000329622] Chr17:18118628 [GRCh38]
Chr17:18021942 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+8GT[30] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000344791]|not provided [RCV001660661] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.7547C>T (p.Ala2516Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001002758]|not provided [RCV001753782] Chr17:18151183 [GRCh38]
Chr17:18054497 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000353974]|not provided [RCV000418317]|not specified [RCV000607828] Chr17:18153858 [GRCh38]
Chr17:18057172 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9772G>A (p.Val3258Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000377879]|not provided [RCV000992400] Chr17:18163823 [GRCh38]
Chr17:18067137 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10128G>A (p.Thr3376=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000379015] Chr17:18171683 [GRCh38]
Chr17:18074997 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3591G>A (p.Pro1197=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000403822]|not provided [RCV000983662]|not specified [RCV000825790] Chr17:18122391 [GRCh38]
Chr17:18025705 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.5315C>T (p.Ala1772Val) single nucleotide variant not provided [RCV000284931] Chr17:18140620 [GRCh38]
Chr17:18043934 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3757-13G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000355997] Chr17:18126334 [GRCh38]
Chr17:18029648 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.5649+13C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000379639] Chr17:18141783 [GRCh38]
Chr17:18045097 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.*714G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000379418] Chr17:18179584 [GRCh38]
Chr17:18082898 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7633G>T (p.Asp2545Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001002759] Chr17:18151269 [GRCh38]
Chr17:18054583 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000333765]|not provided [RCV002521098]|not specified [RCV000825967] Chr17:18155124 [GRCh38]
Chr17:18058438 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.6178-1G>A single nucleotide variant not provided [RCV000361530] Chr17:18144496 [GRCh38]
Chr17:18047810 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4038+6_4038+7insTCAG insertion Nonsyndromic Hearing Loss, Recessive [RCV000373539] Chr17:18130816..18130817 [GRCh38]
Chr17:18034130..18034131 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8148+15C>G single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000387152] Chr17:18154205 [GRCh38]
Chr17:18057519 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1941A>C (p.Pro647=) single nucleotide variant not provided [RCV000959370]|not specified [RCV000289643] Chr17:18120741 [GRCh38]
Chr17:18024055 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.9665G>A (p.Arg3222His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000381218]|Inborn genetic diseases [RCV002522922]|not provided [RCV002251465] Chr17:18163296 [GRCh38]
Chr17:18066610 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.447G>C (p.Ser149=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000381712]|not provided [RCV000943414] Chr17:18119247 [GRCh38]
Chr17:18022561 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.10555C>T (p.Arg3519Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000405492] Chr17:18178832 [GRCh38]
Chr17:18082146 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+8GT[28] microsatellite Nonsyndromic Hearing Loss, Recessive [RCV000388883]|not provided [RCV001672533] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000312918]|not provided [RCV000914617]|not specified [RCV000825785] Chr17:18120434 [GRCh38]
Chr17:18023748 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.*68A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000313382] Chr17:18178938 [GRCh38]
Chr17:18082252 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.901C>G (p.Pro301Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000334898] Chr17:18119701 [GRCh38]
Chr17:18023015 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10395G>T (p.Arg3465=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000335043]|not provided [RCV000923591] Chr17:18173825 [GRCh38]
Chr17:18077139 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.5210G>A (p.Arg1737Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000382691]|not specified [RCV001195239] Chr17:18139610 [GRCh38]
Chr17:18042924 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7502C>T (p.Thr2501Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000294556] Chr17:18151138 [GRCh38]
Chr17:18054452 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.1418T>G (p.Leu473Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000314057]|not provided [RCV001850719]|not specified [RCV001195236] Chr17:18120218 [GRCh38]
Chr17:18023532 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4142+6T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000385209]|not provided [RCV001552335]|not specified [RCV000609727] Chr17:18131348 [GRCh38]
Chr17:18034662 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000477889]|not provided [RCV000261880] Chr17:18119996 [GRCh38]
Chr17:18023310 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.*837T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000316478] Chr17:18179707 [GRCh38]
Chr17:18083021 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3652C>G (p.Gln1218Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000361765] Chr17:18124525 [GRCh38]
Chr17:18027839 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.-144G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000386457] Chr17:18118657 [GRCh38]
Chr17:18021971 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4875+11C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000262272] Chr17:18137690 [GRCh38]
Chr17:18041004 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.10442C>T (p.Ala3481Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000348491] Chr17:18173872 [GRCh38]
Chr17:18077186 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.858C>G (p.Pro286=) single nucleotide variant not provided [RCV000725656] Chr17:18119658 [GRCh38]
Chr17:18022972 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000339103]|not provided [RCV001660662] Chr17:18141724 [GRCh38]
Chr17:18045038 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3140C>A (p.Pro1047His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000362767] Chr17:18121940 [GRCh38]
Chr17:18025254 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2855G>A (p.Gly952Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000349770] Chr17:18121655 [GRCh38]
Chr17:18024969 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4207-12C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000405574]|not provided [RCV002056566] Chr17:18132441 [GRCh38]
Chr17:18035755 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7838C>A (p.Ala2613Asp) single nucleotide variant not provided [RCV000298840] Chr17:18151896 [GRCh38]
Chr17:18055210 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5651T>A (p.Leu1884Gln) single nucleotide variant not provided [RCV000334514] Chr17:18142080 [GRCh38]
Chr17:18045394 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1414T>A (p.Ser472Thr) single nucleotide variant not provided [RCV000725030]|not specified [RCV000404439] Chr17:18120214 [GRCh38]
Chr17:18023528 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.*166C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000268705] Chr17:18179036 [GRCh38]
Chr17:18082350 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.723C>T (p.Asp241=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000341048] Chr17:18119523 [GRCh38]
Chr17:18022837 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8895C>T (p.Arg2965=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000354137]|not provided [RCV002056567] Chr17:18157828 [GRCh38]
Chr17:18061142 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.4030C>T (p.Gln1344Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001374671] Chr17:18127163 [GRCh38]
Chr17:18030477 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.9538_9539del (p.Gln3180fs) deletion not provided [RCV000522605] Chr17:18162605..18162606 [GRCh38]
Chr17:18065919..18065920 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6510-254C>T single nucleotide variant not provided [RCV001547177] Chr17:18147775 [GRCh38]
Chr17:18051089 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5964+3G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224977]|not provided [RCV001567720] Chr17:18143622 [GRCh38]
Chr17:18046936 [GRCh37]
Chr17:17p11.2
pathogenic|likely benign
NM_016239.4(MYO15A):c.8194G>A (p.Asp2732Asn) single nucleotide variant not provided [RCV003321311] Chr17:18154725 [GRCh38]
Chr17:18058039 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3261C>T (p.Ala1087=) single nucleotide variant not provided [RCV002531566]|not specified [RCV000603145] Chr17:18122061 [GRCh38]
Chr17:18025375 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4949_4953dup (p.Leu1652fs) duplication not provided [RCV000488381] Chr17:18138183..18138184 [GRCh38]
Chr17:18041497..18041498 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127231]|not provided [RCV001473736]|not specified [RCV000602589] Chr17:18156263 [GRCh38]
Chr17:18059577 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4038+8_4038+9insAGGG insertion Nonsyndromic Hearing Loss, Recessive [RCV000329696] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.655T>G (p.Ser219Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000380368] Chr17:18119455 [GRCh38]
Chr17:18022769 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5193C>T (p.Phe1731=) single nucleotide variant not provided [RCV000596427] Chr17:18139593 [GRCh38]
Chr17:18042907 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.*515C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000364553] Chr17:18179385 [GRCh38]
Chr17:18082699 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5058C>A (p.Asn1686Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000332667] Chr17:18138861 [GRCh38]
Chr17:18042175 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1162G>A (p.Gly388Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000403509] Chr17:18119962 [GRCh38]
Chr17:18023276 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8443G>A (p.Val2815Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000284159] Chr17:18155416 [GRCh38]
Chr17:18058730 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5709T>A (p.Asn1903Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000335444] Chr17:18142138 [GRCh38]
Chr17:18045452 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4611G>T (p.Glu1537Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000405851] Chr17:18136431 [GRCh38]
Chr17:18039745 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9083+7G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000406649] Chr17:18158645 [GRCh38]
Chr17:18061959 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2670C>T (p.Pro890=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000407928] Chr17:18121470 [GRCh38]
Chr17:18024784 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2258_2259del (p.Ala753fs) deletion not provided [RCV000597804] Chr17:18121057..18121058 [GRCh38]
Chr17:18024371..18024372 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1450C>G (p.Gln484Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000371081] Chr17:18120250 [GRCh38]
Chr17:18023564 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000373305]|Rare genetic deafness [RCV000604391]|not provided [RCV003238755] Chr17:18148859 [GRCh38]
Chr17:18052173 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.9494G>A (p.Arg3165Gln) single nucleotide variant not specified [RCV000605376] Chr17:18161424 [GRCh38]
Chr17:18064738 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9157-9C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000300481] Chr17:18159266 [GRCh38]
Chr17:18062580 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8341-2A>C single nucleotide variant Rare genetic deafness [RCV000615114] Chr17:18155312 [GRCh38]
Chr17:18058626 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala) single nucleotide variant Inborn genetic diseases [RCV002532726]|not provided [RCV002532727]|not specified [RCV000600214] Chr17:18159278 [GRCh38]
Chr17:18062592 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7926G>A (p.Pro2642=) single nucleotide variant not provided [RCV001564231]|not specified [RCV000600680] Chr17:18152144 [GRCh38]
Chr17:18055458 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6720C>G (p.Ser2240=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124057]|not specified [RCV000606127] Chr17:18148524 [GRCh38]
Chr17:18051838 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.2019G>T (p.Gly673=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000360231] Chr17:18120819 [GRCh38]
Chr17:18024133 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6440dup (p.Trp2148fs) duplication Inborn genetic diseases [RCV000622897] Chr17:18146034..18146035 [GRCh38]
Chr17:18049348..18049349 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3842G>C (p.Gly1281Ala) single nucleotide variant not specified [RCV000606472] Chr17:18126432 [GRCh38]
Chr17:18029746 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001000757]|not provided [RCV000598477] Chr17:18138863 [GRCh38]
Chr17:18042177 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) single nucleotide variant not provided [RCV001662646]|not specified [RCV000606038] Chr17:18148783 [GRCh38]
Chr17:18052097 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.534C>T (p.Ala178=) single nucleotide variant not provided [RCV000730496] Chr17:18119334 [GRCh38]
Chr17:18022648 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6691+7T>C single nucleotide variant not specified [RCV000601692] Chr17:18148217 [GRCh38]
Chr17:18051531 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5305_5306dup (p.Val1770fs) microsatellite not provided [RCV000598723] Chr17:18140606..18140607 [GRCh38]
Chr17:18043920..18043921 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8841G>A (p.Leu2947=) single nucleotide variant not provided [RCV000842023]|not specified [RCV000596759] Chr17:18157774 [GRCh38]
Chr17:18061088 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg) single nucleotide variant Inborn genetic diseases [RCV002532421]|not provided [RCV000592958] Chr17:18126431 [GRCh38]
Chr17:18029745 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7655-7C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003117371]|not provided [RCV002532700]|not specified [RCV000598704] Chr17:18151388 [GRCh38]
Chr17:18054702 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV000735770]|not provided [RCV000599060] Chr17:18153812..18153813 [GRCh38]
Chr17:18057126..18057127 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV000779205]|Hearing impairment [RCV001375258]|Nonsyndromic genetic hearing loss [RCV002232560]|Rare genetic deafness [RCV001195292]|not provided [RCV000597925] Chr17:18119934 [GRCh38]
Chr17:18023248 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000593373]|Hearing loss, autosomal recessive [RCV001291108]|MYO15A-related condition [RCV003403392]|not provided [RCV000726876] Chr17:18122305 [GRCh38]
Chr17:18025619 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
arr[hg19]17p11.2(16,757,111-20,219,651)x3 duplication Potocki-Lupski syndrome [RCV000591005] Chr17:16757111..20219651 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8134C>A (p.Leu2712Ile) single nucleotide variant not provided [RCV000591060] Chr17:18154176 [GRCh38]
Chr17:18057490 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4198G>C (p.Val1400Leu) single nucleotide variant not provided [RCV000591075] Chr17:18131523 [GRCh38]
Chr17:18034837 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001125263]|not provided [RCV001644703]|not specified [RCV000602979] Chr17:18119509 [GRCh38]
Chr17:18022823 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000762982]|Nonsyndromic genetic hearing loss [RCV002232717]|Rare genetic deafness [RCV000603268]|not provided [RCV001860245] Chr17:18119796 [GRCh38]
Chr17:18023110 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.2311del (p.Ser771fs) deletion Rare genetic deafness [RCV000605984]|not provided [RCV001860234] Chr17:18121111 [GRCh38]
Chr17:18024425 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys) single nucleotide variant not provided [RCV000523960] Chr17:18166486 [GRCh38]
Chr17:18069800 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122990]|not provided [RCV000730176] Chr17:18145955 [GRCh38]
Chr17:18049269 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.10312A>G (p.Asn3438Asp) single nucleotide variant not provided [RCV000735065] Chr17:18172252 [GRCh38]
Chr17:18075566 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001328940]|Inborn genetic diseases [RCV002536532]|not provided [RCV000735066]|not specified [RCV000825792] Chr17:18120352 [GRCh38]
Chr17:18023666 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9539A>G (p.Gln3180Arg) single nucleotide variant not provided [RCV000728423] Chr17:18162606 [GRCh38]
Chr17:18065920 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.394A>G (p.Thr132Ala) single nucleotide variant not provided [RCV000733209] Chr17:18119194 [GRCh38]
Chr17:18022508 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000735769] Chr17:18148157 [GRCh38]
Chr17:18051471 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3183C>T (p.Leu1061=) single nucleotide variant not provided [RCV000731551] Chr17:18121983 [GRCh38]
Chr17:18025297 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7544G>A (p.Arg2515His) single nucleotide variant not provided [RCV000729118] Chr17:18151180 [GRCh38]
Chr17:18054494 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3 copy number gain See cases [RCV000449384] Chr17:16740141..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-18722974)x1 copy number loss See cases [RCV000449355] Chr17:16651292..18722974 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000454215]|Hearing impairment [RCV001375262] Chr17:18132486 [GRCh38]
Chr17:18035800 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.9572G>A (p.Arg3191His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000454294] Chr17:18162639 [GRCh38]
Chr17:18065953 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000454352] Chr17:18120023 [GRCh38]
Chr17:18023337 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 copy number loss See cases [RCV000446498] Chr17:15745315..20261191 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1 copy number loss See cases [RCV000446300] Chr17:16761814..20304295 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1 copy number loss See cases [RCV000446465] Chr17:16637902..20261250 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17262786-18250574)x3 copy number gain See cases [RCV000447624] Chr17:17262786..18250574 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8088+6G>A single nucleotide variant not provided [RCV001698253] Chr17:18153902 [GRCh38]
Chr17:18057216 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter) single nucleotide variant Nonsyndromic genetic hearing loss [RCV002231209]|not provided [RCV000522918] Chr17:18131501 [GRCh38]
Chr17:18034815 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3 copy number gain See cases [RCV000445753] Chr17:16741771..20430791 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3641G>A (p.Arg1214Gln) single nucleotide variant not provided [RCV000443407] Chr17:18124514 [GRCh38]
Chr17:18027828 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9876G>A (p.Trp3292Ter) single nucleotide variant not provided [RCV000433268] Chr17:18166449 [GRCh38]
Chr17:18069763 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001000013]|not provided [RCV000727906] Chr17:18120994 [GRCh38]
Chr17:18024308 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1 copy number loss See cases [RCV000448145] Chr17:16757564..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1 copy number loss See cases [RCV000448636] Chr17:16741411..20304154 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000417183]|Hearing loss, autosomal recessive [RCV001291109] Chr17:18135756 [GRCh38]
Chr17:18039070 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.10572dup (p.Ser3525fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV000417125] Chr17:18178843..18178844 [GRCh38]
Chr17:18082157..18082158 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6944del (p.Gly2315fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV000417129] Chr17:18148937 [GRCh38]
Chr17:18052251 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403fs) indel Autosomal recessive nonsyndromic hearing loss 3 [RCV000417137] Chr17:18171764 [GRCh38]
Chr17:18075078 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8224+3A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000417149]|Hearing loss, autosomal recessive [RCV001291112] Chr17:18154758 [GRCh38]
Chr17:18058072 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.9229+2T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000417166] Chr17:18159349 [GRCh38]
Chr17:18062663 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3932T>C (p.Ile1311Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000417169] Chr17:18126856 [GRCh38]
Chr17:18030170 [GRCh37]
Chr17:17p11.2
likely pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1 copy number loss See cases [RCV000448404] Chr17:16741411..20449523 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1 copy number loss See cases [RCV000447955] Chr17:16741411..20408379 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1 copy number loss See cases [RCV000448752] Chr17:16761814..20462723 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3 copy number gain See cases [RCV000448097] Chr17:16772264..20433502 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4032+1G>A single nucleotide variant not provided [RCV000481248] Chr17:18127166 [GRCh38]
Chr17:18030480 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000477772]|not provided [RCV001729610] Chr17:18148099 [GRCh38]
Chr17:18051413 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.1721G>C (p.Arg574Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000477833] Chr17:18120521 [GRCh38]
Chr17:18023835 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV000477926] Chr17:18138856..18138857 [GRCh38]
Chr17:18042170..18042171 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000477946] Chr17:18119425 [GRCh38]
Chr17:18022739 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001782968]|not provided [RCV000483838] Chr17:18135747 [GRCh38]
Chr17:18039061 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128287]|Nonsyndromic genetic hearing loss [RCV002230958]|not provided [RCV000755585] Chr17:18119911 [GRCh38]
Chr17:18023225 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.574C>T (p.Arg192Cys) single nucleotide variant not provided [RCV000498954] Chr17:18119374 [GRCh38]
Chr17:18022688 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1 copy number loss See cases [RCV000510506] Chr17:16745600..20396173 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1 copy number loss See cases [RCV000510254] Chr17:17200426..21900910 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3 copy number gain See cases [RCV000510267] Chr17:16761814..20339795 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV000504331]|Congenital sensorineural hearing impairment [RCV000626936]|Rare genetic deafness [RCV000605806]|not provided [RCV001653861] Chr17:18149489..18149492 [GRCh38]
Chr17:18052803..18052806 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5962G>A (p.Glu1988Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001333911]|not provided [RCV000498623] Chr17:18143617 [GRCh38]
Chr17:18046931 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9785G>C (p.Arg3262Pro) single nucleotide variant not provided [RCV001327238]|not specified [RCV000508537] Chr17:18163836 [GRCh38]
Chr17:18067150 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_016239.4(MYO15A):c.9232G>C (p.Val3078Leu) single nucleotide variant not provided [RCV000493635] Chr17:18159608 [GRCh38]
Chr17:18062922 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1 copy number loss See cases [RCV000511412] Chr17:16727264..20413564 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000505627]|not provided [RCV001857240] Chr17:18148532 [GRCh38]
Chr17:18051846 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.790C>A (p.Leu264Ile) single nucleotide variant not provided [RCV000494144] Chr17:18119590 [GRCh38]
Chr17:18022904 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1672G>A (p.Gly558Ser) single nucleotide variant not specified [RCV000505948] Chr17:18120472 [GRCh38]
Chr17:18023786 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2065dup (p.Arg689fs) duplication not specified [RCV000506016] Chr17:18120861..18120862 [GRCh38]
Chr17:18024175..18024176 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123271]|not provided [RCV002056908]|not specified [RCV000506047] Chr17:18173824 [GRCh38]
Chr17:18077138 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1 copy number loss See cases [RCV000511915] Chr17:16772264..20297091 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4976G>A (p.Arg1659Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128569]|not provided [RCV000506255] Chr17:18138215 [GRCh38]
Chr17:18041529 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1 copy number loss See cases [RCV000511460] Chr17:16741411..20410218 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3743G>A (p.Arg1248Gln) single nucleotide variant not specified [RCV000506588] Chr17:18125218 [GRCh38]
Chr17:18028532 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2099A>T (p.His700Leu) single nucleotide variant not specified [RCV000506819] Chr17:18120899 [GRCh38]
Chr17:18024213 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7476_7477del (p.Lys2492fs) deletion not specified [RCV000507128] Chr17:18151112..18151113 [GRCh38]
Chr17:18054426..18054427 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3 copy number gain See cases [RCV000511433] Chr17:16738161..20338182 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8882C>T (p.Thr2961Met) single nucleotide variant not specified [RCV000507224] Chr17:18157815 [GRCh38]
Chr17:18061129 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8644G>A (p.Asp2882Asn) single nucleotide variant not provided [RCV001303549]|not specified [RCV000507438] Chr17:18156996 [GRCh38]
Chr17:18060310 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8590G>C (p.Glu2864Gln) single nucleotide variant Inborn genetic diseases [RCV002524920]|not specified [RCV000507669] Chr17:18156325 [GRCh38]
Chr17:18059639 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1 copy number loss See cases [RCV000511111] Chr17:16727264..20395889 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9686G>A (p.Cys3229Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002483681]|not specified [RCV000605585] Chr17:18163317 [GRCh38]
Chr17:18066631 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3 copy number gain See cases [RCV000511042] Chr17:16651292..20437532 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9997C>G (p.Arg3333Gly) single nucleotide variant not specified [RCV000607243] Chr17:18167638 [GRCh38]
Chr17:18070952 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7205G>A (p.Gly2402Glu) single nucleotide variant Inborn genetic diseases [RCV003257206] Chr17:18149573 [GRCh38]
Chr17:18052887 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9613-13C>T single nucleotide variant not provided [RCV002532728]|not specified [RCV000607361] Chr17:18163231 [GRCh38]
Chr17:18066545 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10018C>T (p.Gln3340Ter) single nucleotide variant not provided [RCV000578664] Chr17:18167659 [GRCh38]
Chr17:18070973 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3238C>T (p.Arg1080Cys) single nucleotide variant Inborn genetic diseases [RCV003255240] Chr17:18122038 [GRCh38]
Chr17:18025352 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4807C>T (p.Leu1603=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126510]|not provided [RCV002532725]|not specified [RCV000604298] Chr17:18137611 [GRCh38]
Chr17:18040925 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.754C>G (p.His252Asp) single nucleotide variant not provided [RCV001855253]|not specified [RCV000604716] Chr17:18119554 [GRCh38]
Chr17:18022868 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3646C>T (p.Arg1216Cys) single nucleotide variant Hearing impairment [RCV001375275]|not provided [RCV000596450] Chr17:18124519 [GRCh38]
Chr17:18027833 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8225-12G>A single nucleotide variant not specified [RCV000599717] Chr17:18155098 [GRCh38]
Chr17:18058412 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8157C>T (p.His2719=) single nucleotide variant not provided [RCV000594983] Chr17:18154688 [GRCh38]
Chr17:18058002 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3647G>A (p.Arg1216His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126423]|not provided [RCV000584911] Chr17:18124520 [GRCh38]
Chr17:18027834 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000626303] Chr17:18156966 [GRCh38]
Chr17:18060280 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3539G>A (p.Gly1180Asp) single nucleotide variant Inborn genetic diseases [RCV003299389] Chr17:18122339 [GRCh38]
Chr17:18025653 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6969C>G (p.Asn2323Lys) single nucleotide variant not specified [RCV000600440] Chr17:18149228 [GRCh38]
Chr17:18052542 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6728C>A (p.Thr2243Lys) single nucleotide variant not provided [RCV003327757] Chr17:18148532 [GRCh38]
Chr17:18051846 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5212-11C>T single nucleotide variant not provided [RCV003327941] Chr17:18140506 [GRCh38]
Chr17:18043820 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8789G>T (p.Gly2930Val) single nucleotide variant not provided [RCV000597134] Chr17:18157722 [GRCh38]
Chr17:18061036 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128568]|not specified [RCV000602290] Chr17:18138171 [GRCh38]
Chr17:18041485 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.4483-6G>A single nucleotide variant not specified [RCV000602448] Chr17:18135705 [GRCh38]
Chr17:18039019 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001784186]|Congenital sensorineural hearing impairment [RCV000626937]|not provided [RCV003317302] Chr17:18157059 [GRCh38]
Chr17:18060373 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.9303+5G>A single nucleotide variant Congenital sensorineural hearing impairment [RCV000626938]|not provided [RCV002529799] Chr17:18159684 [GRCh38]
Chr17:18062998 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1693G>A (p.Val565Met) single nucleotide variant Inborn genetic diseases [RCV003255403] Chr17:18120493 [GRCh38]
Chr17:18023807 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8051A>G (p.Tyr2684Cys) single nucleotide variant not specified [RCV000609421] Chr17:18153859 [GRCh38]
Chr17:18057173 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8781C>T (p.Pro2927=) single nucleotide variant not provided [RCV002066624]|not specified [RCV000609553] Chr17:18157223 [GRCh38]
Chr17:18060537 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4827C>T (p.Asn1609=) single nucleotide variant not specified [RCV000612260] Chr17:18137631 [GRCh38]
Chr17:18040945 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7533_7553dup (p.Val2512_Pro2518dup) duplication not specified [RCV000606758] Chr17:18151166..18151167 [GRCh38]
Chr17:18054480..18054481 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.381C>G (p.Leu127=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122477]|not provided [RCV000841485]|not specified [RCV000601553] Chr17:18119181 [GRCh38]
Chr17:18022495 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.3026del (p.Pro1009fs) deletion Rare genetic deafness [RCV000611730] Chr17:18121823 [GRCh38]
Chr17:18025137 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) duplication Deafness, autosomal recessive 3 [RCV000626163] Chr17:18119219 [GRCh38]
Chr17:18022533 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.9083+6T>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000624126] Chr17:18158644 [GRCh38]
Chr17:18061958 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6612C>T (p.Arg2204=) single nucleotide variant not provided [RCV001574985]|not specified [RCV000609846] Chr17:18148131 [GRCh38]
Chr17:18051445 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.2055G>T (p.Ser685=) single nucleotide variant not specified [RCV000607082] Chr17:18120855 [GRCh38]
Chr17:18024169 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1026C>T (p.Tyr342=) single nucleotide variant not provided [RCV003326474]|not specified [RCV000610020] Chr17:18119826 [GRCh38]
Chr17:18023140 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4146C>A (p.Gly1382=) single nucleotide variant not specified [RCV000612769] Chr17:18131471 [GRCh38]
Chr17:18034785 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2598G>C (p.Ser866=) single nucleotide variant not specified [RCV000615623] Chr17:18121398 [GRCh38]
Chr17:18024712 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln) single nucleotide variant not provided [RCV001391786]|not specified [RCV000616035] Chr17:18157210 [GRCh38]
Chr17:18060524 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.3018C>A (p.Gly1006=) single nucleotide variant not provided [RCV000929951]|not specified [RCV000600692] Chr17:18121818 [GRCh38]
Chr17:18025132 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser) single nucleotide variant Nonsyndromic genetic hearing loss [RCV002232566]|not provided [RCV000894117]|not specified [RCV000610120] Chr17:18120382 [GRCh38]
Chr17:18023696 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.675G>C (p.Gly225=) single nucleotide variant not specified [RCV000610169] Chr17:18119475 [GRCh38]
Chr17:18022789 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000765340]|not provided [RCV001461717]|not specified [RCV000601972] Chr17:18171649 [GRCh38]
Chr17:18074963 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224970]|not specified [RCV000602031] Chr17:18132556 [GRCh38]
Chr17:18035870 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4251C>T (p.Ala1417=) single nucleotide variant not provided [RCV000979665]|not specified [RCV000613160] Chr17:18132497 [GRCh38]
Chr17:18035811 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5007+15C>G single nucleotide variant not specified [RCV000613162] Chr17:18138261 [GRCh38]
Chr17:18041575 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9328C>T (p.Arg3110Trp) single nucleotide variant Inborn genetic diseases [RCV002528767]|not specified [RCV000616322] Chr17:18159959 [GRCh38]
Chr17:18063273 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5925G>T (p.Trp1975Cys) single nucleotide variant not specified [RCV000616407] Chr17:18143580 [GRCh38]
Chr17:18046894 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.420G>T (p.Lys140Asn) single nucleotide variant not specified [RCV000616600] Chr17:18119220 [GRCh38]
Chr17:18022534 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4656-11del deletion not provided [RCV001556410]|not specified [RCV000616626] Chr17:18136551 [GRCh38]
Chr17:18039865 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.1657del (p.Arg553fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV003314287] Chr17:18120456 [GRCh38]
Chr17:18023770 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.215G>A (p.Arg72His) single nucleotide variant Inborn genetic diseases [RCV002528772]|not provided [RCV002528773]|not specified [RCV000613684] Chr17:18119015 [GRCh38]
Chr17:18022329 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123866]|Nonsyndromic genetic hearing loss [RCV002232567]|not provided [RCV001731805]|not specified [RCV000616755] Chr17:18135725 [GRCh38]
Chr17:18039039 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002509458]|not provided [RCV000595059] Chr17:18121429 [GRCh38]
Chr17:18024743 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.8957G>A (p.Arg2986His) single nucleotide variant Inborn genetic diseases [RCV003267540] Chr17:18157890 [GRCh38]
Chr17:18061204 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5742T>C (p.Arg1914=) single nucleotide variant not specified [RCV000608201] Chr17:18142171 [GRCh38]
Chr17:18045485 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9180C>T (p.Ile3060=) single nucleotide variant not specified [RCV000613703] Chr17:18159298 [GRCh38]
Chr17:18062612 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5028A>G (p.Leu1676=) single nucleotide variant not specified [RCV000613751] Chr17:18138831 [GRCh38]
Chr17:18042145 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4780-9A>C single nucleotide variant not specified [RCV000611285] Chr17:18137575 [GRCh38]
Chr17:18040889 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4596C>T (p.Thr1532=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123868]|not provided [RCV000933236] Chr17:18135824 [GRCh38]
Chr17:18039138 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.3866+12G>A single nucleotide variant not specified [RCV000611549] Chr17:18126468 [GRCh38]
Chr17:18029782 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3179G>A (p.Ser1060Asn) single nucleotide variant Inborn genetic diseases [RCV003239538] Chr17:18121979 [GRCh38]
Chr17:18025293 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9304-15C>T single nucleotide variant not specified [RCV000609028] Chr17:18159920 [GRCh38]
Chr17:18063234 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9429C>T (p.Thr3143=) single nucleotide variant not provided [RCV002531641]|not specified [RCV000611652] Chr17:18161359 [GRCh38]
Chr17:18064673 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3299T>A (p.Leu1100Gln) single nucleotide variant not specified [RCV000611696] Chr17:18122099 [GRCh38]
Chr17:18025413 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9880C>T (p.Arg3294Trp) single nucleotide variant not specified [RCV000614426] Chr17:18166453 [GRCh38]
Chr17:18069767 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8683C>T (p.His2895Tyr) single nucleotide variant Inborn genetic diseases [RCV003281141] Chr17:18157035 [GRCh38]
Chr17:18060349 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003117372]|not provided [RCV001707750]|not specified [RCV000609087] Chr17:18173873 [GRCh38]
Chr17:18077187 [GRCh37]
Chr17:17p11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.8450G>A (p.Arg2817His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002483675]|not provided [RCV001854137]|not specified [RCV000611913] Chr17:18155423 [GRCh38]
Chr17:18058737 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3386G>A (p.Arg1129Gln) single nucleotide variant not specified [RCV000614745] Chr17:18122186 [GRCh38]
Chr17:18025500 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p11.2(chr17:16782546-20294038) copy number loss Sleep abnormality [RCV000626510] Chr17:16782546..20294038 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_016239.4(MYO15A):c.4038+6_4038+7del deletion not provided [RCV001797111]|not specified [RCV000605021] Chr17:18130816..18130817 [GRCh38]
Chr17:18034130..18034131 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.2217A>G (p.Pro739=) single nucleotide variant not specified [RCV000603605] Chr17:18121017 [GRCh38]
Chr17:18024331 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3 copy number gain See cases [RCV000512356] Chr17:16591260..20473937 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV000625769]|Hearing impairment [RCV001849419]|not provided [RCV002531925] Chr17:18119213..18119214 [GRCh38]
Chr17:18022527..18022528 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.6735A>G (p.Glu2245=) single nucleotide variant not provided [RCV002531645]|not specified [RCV000607510] Chr17:18148539 [GRCh38]
Chr17:18051853 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p11.2(chr17:16842163-20217777) copy number gain Delayed speech and language development [RCV000626511] Chr17:16842163..20217777 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001824841]|Rare genetic deafness [RCV000607201]|not provided [RCV001541806] Chr17:18122185 [GRCh38]
Chr17:18025499 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|not provided
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1 copy number loss See cases [RCV000512446] Chr17:16741411..20489023 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln) single nucleotide variant Rare genetic deafness [RCV000612077] Chr17:18148889 [GRCh38]
Chr17:18052203 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.6729G>A (p.Thr2243=) single nucleotide variant not provided [RCV000594597] Chr17:18148533 [GRCh38]
Chr17:18051847 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3201G>A (p.Ala1067=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123765]|not provided [RCV000904774] Chr17:18122001 [GRCh38]
Chr17:18025315 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.406_407insAGTT (p.Trp136Ter) insertion Inborn genetic diseases [RCV000622501] Chr17:18119205..18119206 [GRCh38]
Chr17:18022519..18022520 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del) deletion not provided [RCV000585375] Chr17:18155192..18155194 [GRCh38]
Chr17:18058506..18058508 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV001824847]|Inborn genetic diseases [RCV000622879] Chr17:18120457..18120458 [GRCh38]
Chr17:18023771..18023772 [GRCh37]
Chr17:17p11.2
pathogenic|not provided
NM_016239.4(MYO15A):c.4641C>T (p.Ser1547=) single nucleotide variant not provided [RCV001698080] Chr17:18136461 [GRCh38]
Chr17:18039775 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4547T>G (p.Leu1516Arg) single nucleotide variant Inborn genetic diseases [RCV000623852] Chr17:18135775 [GRCh38]
Chr17:18039089 [GRCh37]
Chr17:17p11.2
likely pathogenic
GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Brachydactyly [RCV000626512] Chr17:16936603..18184130 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4609G>A (p.Glu1537Lys) single nucleotide variant not provided [RCV000657988] Chr17:18136429 [GRCh38]
Chr17:18039743 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7550C>T (p.Thr2517Ile) single nucleotide variant not provided [RCV000657989] Chr17:18151186 [GRCh38]
Chr17:18054500 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000681531]|Hearing loss, autosomal recessive [RCV001291111] Chr17:18138244 [GRCh38]
Chr17:18041558 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000677663] Chr17:18149309 [GRCh38]
Chr17:18052623 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000681536]|Hearing loss, autosomal recessive [RCV001291110] Chr17:18135798 [GRCh38]
Chr17:18039112 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1 copy number loss not provided [RCV000683897] Chr17:16727264..20310241 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3 copy number gain not provided [RCV000683900] Chr17:16761814..20292897 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1 copy number loss not provided [RCV000683901] Chr17:16999980..20298979 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1 copy number loss not provided [RCV000683902] Chr17:17021607..20015978 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1 copy number loss not provided [RCV000683898] Chr17:16741411..20430791 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000678988] Chr17:18158616 [GRCh38]
Chr17:18061930 [GRCh37]
Chr17:17p11.2
likely pathogenic
GRCh37/hg19 17p11.2(chr17:17857310-18122856)x3 copy number gain not provided [RCV000683905] Chr17:17857310..18122856 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001808219] Chr17:18148859..18148869 [GRCh38]
Chr17:18052173..18052183 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp) single nucleotide variant Ear malformation [RCV001814491]|not provided [RCV002300545] Chr17:18146034 [GRCh38]
Chr17:18049348 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.3956C>G (p.Ser1319Cys) single nucleotide variant Ear malformation [RCV001814531] Chr17:18127089 [GRCh38]
Chr17:18030403 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8347G>A (p.Val2783Met) single nucleotide variant not provided [RCV000712350] Chr17:18155320 [GRCh38]
Chr17:18058634 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001001120] Chr17:18119258 [GRCh38]
Chr17:18022572 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5825+48C>T single nucleotide variant not provided [RCV001571108] Chr17:18142302 [GRCh38]
Chr17:18045616 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1 copy number loss not provided [RCV000739423] Chr17:16768248..20391959 [GRCh37]
Chr17:17p11.2
pathogenic
Single allele duplication Autism [RCV000754201] Chr17:16770855..20422847 [GRCh38]
Chr17:17p11.2
pathogenic
NC_000017.11:g.(?_16770855)_(20585863_?)del deletion Autism [RCV000754202] Chr17:16770855..20585863 [GRCh38]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1 copy number loss not provided [RCV000739417] Chr17:16660721..20417975 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2517G>A (p.Pro839=) single nucleotide variant not provided [RCV001540489] Chr17:18121317 [GRCh38]
Chr17:18024631 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+8GT[34] microsatellite not provided [RCV000893447] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.4033-152G>T single nucleotide variant not provided [RCV001541639] Chr17:18130653 [GRCh38]
Chr17:18033967 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5133+277A>G single nucleotide variant not provided [RCV001646039] Chr17:18139213 [GRCh38]
Chr17:18042527 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.2961G>A (p.Arg987=) single nucleotide variant not provided [RCV000977767] Chr17:18121761 [GRCh38]
Chr17:18025075 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+7A>T single nucleotide variant not provided [RCV000919056] Chr17:18130817 [GRCh38]
Chr17:18034131 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9788-47G>T single nucleotide variant not provided [RCV001679206] Chr17:18166314 [GRCh38]
Chr17:18069628 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.5531+209_5531+211del microsatellite not provided [RCV001645189] Chr17:18141349..18141351 [GRCh38]
Chr17:18044663..18044665 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.8967+13T>G single nucleotide variant not provided [RCV001534901] Chr17:18157913 [GRCh38]
Chr17:18061227 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4483-330G>A single nucleotide variant not provided [RCV001565988] Chr17:18135381 [GRCh38]
Chr17:18038695 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3756+279C>T single nucleotide variant not provided [RCV001586335] Chr17:18125510 [GRCh38]
Chr17:18028824 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2159C>T (p.Ala720Val) single nucleotide variant not provided [RCV001586400] Chr17:18120959 [GRCh38]
Chr17:18024273 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.4875+3G>A single nucleotide variant not provided [RCV001574552] Chr17:18137682 [GRCh38]
Chr17:18040996 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.7495C>T (p.Gln2499Ter) single nucleotide variant not provided [RCV000760842] Chr17:18151131 [GRCh38]
Chr17:18054445 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV000761491]|Nonsyndromic genetic hearing loss [RCV002233762] Chr17:18119970..18119971 [GRCh38]
Chr17:18023284..18023285 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.328C>T (p.Arg110Cys) single nucleotide variant not provided [RCV000756405] Chr17:18119128 [GRCh38]
Chr17:18022442 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000761532]|not provided [RCV001766593] Chr17:18146101 [GRCh38]
Chr17:18049415 [GRCh37]
Chr17:17p11.2
pathogenic|uncertain significance
NM_016239.4(MYO15A):c.2947G>T (p.Ala983Ser) single nucleotide variant not provided [RCV000762235] Chr17:18121747 [GRCh38]
Chr17:18025061 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5197C>T (p.Arg1733Trp) single nucleotide variant not provided [RCV000762236] Chr17:18139597 [GRCh38]
Chr17:18042911 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7012C>T (p.Gln2338Ter) single nucleotide variant not provided [RCV000760696] Chr17:18149271 [GRCh38]
Chr17:18052585 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002051890]|not provided [RCV000760714] Chr17:18121219 [GRCh38]
Chr17:18024533 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.4655+1G>A single nucleotide variant not provided [RCV003314847] Chr17:18136476 [GRCh38]
Chr17:18039790 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1562C>T (p.Pro521Leu) single nucleotide variant Inborn genetic diseases [RCV002539595]|not provided [RCV001663364] Chr17:18120362 [GRCh38]
Chr17:18023676 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8088+91G>A single nucleotide variant not provided [RCV001680415] Chr17:18153987 [GRCh38]
Chr17:18057301 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.2397G>A (p.Leu799=) single nucleotide variant not provided [RCV001581675] Chr17:18121197 [GRCh38]
Chr17:18024511 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10082+301A>G single nucleotide variant not provided [RCV001608767] Chr17:18168024 [GRCh38]
Chr17:18071338 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro) single nucleotide variant Childhood onset hearing loss [RCV001328009]|not provided [RCV000756404] Chr17:18121996 [GRCh38]
Chr17:18025310 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9517+208G>A single nucleotide variant not provided [RCV001668005] Chr17:18161655 [GRCh38]
Chr17:18064969 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.4321-2A>T single nucleotide variant not provided [RCV000992396] Chr17:18133223 [GRCh38]
Chr17:18036537 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.5361-1G>T single nucleotide variant not provided [RCV001963928] Chr17:18140786 [GRCh38]
Chr17:18044100 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8602-10G>T single nucleotide variant not provided [RCV001582187] Chr17:18156944 [GRCh38]
Chr17:18060258 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10350+164T>C single nucleotide variant not provided [RCV001548522] Chr17:18172454 [GRCh38]
Chr17:18075768 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3693-248T>A single nucleotide variant not provided [RCV001552266] Chr17:18124920 [GRCh38]
Chr17:18028234 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6178-37dup duplication not provided [RCV001609020] Chr17:18144458..18144459 [GRCh38]
Chr17:18047772..18047773 [GRCh37]
Chr17:17p11.2
benign
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 copy number gain not provided [RCV000751941] Chr17:15796140..20331131 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_016239.4(MYO15A):c.8937C>T (p.Ala2979=) single nucleotide variant not provided [RCV000921377] Chr17:18157870 [GRCh38]
Chr17:18061184 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+8GT[25] microsatellite not provided [RCV000949397] Chr17:18130818..18130821 [GRCh38]
Chr17:18034132..18034135 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.6981G>A (p.Ser2327=) single nucleotide variant not provided [RCV000906745] Chr17:18149240 [GRCh38]
Chr17:18052554 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6651T>C (p.Tyr2217=) single nucleotide variant not provided [RCV000924076] Chr17:18148170 [GRCh38]
Chr17:18051484 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.393C>G (p.Ser131=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122478]|not provided [RCV000892416] Chr17:18119193 [GRCh38]
Chr17:18022507 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.3363G>A (p.Val1121=) single nucleotide variant not provided [RCV000968737] Chr17:18122163 [GRCh38]
Chr17:18025477 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5008-5C>T single nucleotide variant not provided [RCV000981824] Chr17:18138806 [GRCh38]
Chr17:18042120 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.250T>A (p.Ser84Thr) single nucleotide variant not provided [RCV000901290] Chr17:18119050 [GRCh38]
Chr17:18022364 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4239C>T (p.Tyr1413=) single nucleotide variant not provided [RCV000927206] Chr17:18132485 [GRCh38]
Chr17:18035799 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9369C>T (p.Asp3123=) single nucleotide variant not provided [RCV000915930] Chr17:18160000 [GRCh38]
Chr17:18063314 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.969G>A (p.Ser323=) single nucleotide variant not provided [RCV000901443]|not specified [RCV001449848] Chr17:18119769 [GRCh38]
Chr17:18023083 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3942-6G>T single nucleotide variant not provided [RCV000921201] Chr17:18127069 [GRCh38]
Chr17:18030383 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.885C>T (p.Tyr295=) single nucleotide variant not provided [RCV000922705] Chr17:18119685 [GRCh38]
Chr17:18022999 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+8GT[26] microsatellite not provided [RCV000948448] Chr17:18130818..18130819 [GRCh38]
Chr17:18034132..18034133 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.10081G>A (p.Val3361Met) single nucleotide variant not provided [RCV001571084] Chr17:18167722 [GRCh38]
Chr17:18071036 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) microsatellite Autosomal recessive nonsyndromic hearing loss 3 [RCV001089558]|not provided [RCV001759858] Chr17:18172185..18172187 [GRCh38]
Chr17:18075499..18075501 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.10491+2T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001089559] Chr17:18173923 [GRCh38]
Chr17:18077237 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001089565]|Hearing impairment [RCV001375178]|not provided [RCV001090736] Chr17:18133255 [GRCh38]
Chr17:18036569 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.5461del (p.Val1821fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001089566] Chr17:18141070 [GRCh38]
Chr17:18044384 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.6177+1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770836] Chr17:18144001 [GRCh38]
Chr17:18047315 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.2384dup (p.Ser796fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV000779206] Chr17:18121179..18121180 [GRCh38]
Chr17:18024493..18024494 [GRCh37]
Chr17:17p11.2
pathogenic|uncertain significance
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000779207]|Nonsyndromic genetic hearing loss [RCV002233817]|Rare genetic deafness [RCV000825533]|not provided [RCV001561220] Chr17:18131523 [GRCh38]
Chr17:18034837 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.5492del (p.Gly1831fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV000779208] Chr17:18141102 [GRCh38]
Chr17:18044416 [GRCh37]
Chr17:17p11.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4522G>T (p.Glu1508Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770832] Chr17:18135750 [GRCh38]
Chr17:18039064 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4609G>T (p.Glu1537Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770833] Chr17:18136429 [GRCh38]
Chr17:18039743 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770838] Chr17:18122033 [GRCh38]
Chr17:18025347 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770839] Chr17:18143596 [GRCh38]
Chr17:18046910 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.3241T>G (p.Trp1081Gly) single nucleotide variant not specified [RCV000825385] Chr17:18122041 [GRCh38]
Chr17:18025355 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1525G>A (p.Asp509Asn) single nucleotide variant not specified [RCV000825391] Chr17:18120325 [GRCh38]
Chr17:18023639 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123766]|Inborn genetic diseases [RCV002538228]|not provided [RCV001354263]|not specified [RCV000825786] Chr17:18122003 [GRCh38]
Chr17:18025317 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001328944]|Inborn genetic diseases [RCV002536070]|not provided [RCV001858409]|not specified [RCV000825970] Chr17:18142797 [GRCh38]
Chr17:18046111 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1 copy number loss See cases [RCV000790581] Chr17:16908991..18322254 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.605C>A (p.Pro202His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770831] Chr17:18119405 [GRCh38]
Chr17:18022719 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16842991-20217316) copy number loss Smith-Magenis syndrome [RCV000767738] Chr17:16842991..20217316 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3384G>A (p.Gln1128=) single nucleotide variant not provided [RCV000973744] Chr17:18122184 [GRCh38]
Chr17:18025498 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6237C>T (p.Ala2079=) single nucleotide variant not provided [RCV000895449] Chr17:18144556 [GRCh38]
Chr17:18047870 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8441G>A (p.Arg2814Gln) single nucleotide variant not provided [RCV000881034] Chr17:18155414 [GRCh38]
Chr17:18058728 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2013C>T (p.Ser671=) single nucleotide variant not provided [RCV000918499] Chr17:18120813 [GRCh38]
Chr17:18024127 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10227C>T (p.Ser3409=) single nucleotide variant not provided [RCV000895887] Chr17:18172167 [GRCh38]
Chr17:18075481 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.9441C>T (p.Ser3147=) single nucleotide variant not provided [RCV000943125] Chr17:18161371 [GRCh38]
Chr17:18064685 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.544C>A (p.Arg182=) single nucleotide variant not provided [RCV000938581] Chr17:18119344 [GRCh38]
Chr17:18022658 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7572C>T (p.Ala2524=) single nucleotide variant not provided [RCV000906219] Chr17:18151208 [GRCh38]
Chr17:18054522 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4287G>C (p.Leu1429=) single nucleotide variant not provided [RCV000977983] Chr17:18132533 [GRCh38]
Chr17:18035847 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8224+8G>C single nucleotide variant not provided [RCV000903556] Chr17:18154763 [GRCh38]
Chr17:18058077 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770772] Chr17:18119063 [GRCh38]
Chr17:18022377 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770837] Chr17:18120771 [GRCh38]
Chr17:18024085 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.9084-1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770834] Chr17:18158924 [GRCh38]
Chr17:18062238 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8088+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770835] Chr17:18153897 [GRCh38]
Chr17:18057211 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.477G>A (p.Trp159Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770829] Chr17:18119277 [GRCh38]
Chr17:18022591 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8524G>T (p.Glu2842Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000770830] Chr17:18156259 [GRCh38]
Chr17:18059573 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9522C>T (p.Ile3174=) single nucleotide variant not provided [RCV000841004] Chr17:18162589 [GRCh38]
Chr17:18065903 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000855723] Chr17:18119288 [GRCh38]
Chr17:18022602 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7893+10G>A single nucleotide variant not provided [RCV000841208] Chr17:18151961 [GRCh38]
Chr17:18055275 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4032+7C>T single nucleotide variant not provided [RCV000976588] Chr17:18127172 [GRCh38]
Chr17:18030486 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3693-11T>A single nucleotide variant not provided [RCV000841878] Chr17:18125157 [GRCh38]
Chr17:18028471 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2106G>A (p.Pro702=) single nucleotide variant not provided [RCV000842368] Chr17:18120906 [GRCh38]
Chr17:18024220 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.370G>A (p.Ala124Thr) single nucleotide variant not specified [RCV000825382] Chr17:18119170 [GRCh38]
Chr17:18022484 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9161C>T (p.Pro3054Leu) single nucleotide variant not specified [RCV000825387] Chr17:18159279 [GRCh38]
Chr17:18062593 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6273+5G>T single nucleotide variant not specified [RCV000825389] Chr17:18144597 [GRCh38]
Chr17:18047911 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4945C>T (p.Leu1649Phe) single nucleotide variant not specified [RCV000825393] Chr17:18138184 [GRCh38]
Chr17:18041498 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8215G>C (p.Ala2739Pro) single nucleotide variant Inborn genetic diseases [RCV002536050]|not specified [RCV000825395] Chr17:18154746 [GRCh38]
Chr17:18058060 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3941+61T>C single nucleotide variant not provided [RCV000842643] Chr17:18126926 [GRCh38]
Chr17:18030240 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.8967+27C>G single nucleotide variant not provided [RCV000842660] Chr17:18157927 [GRCh38]
Chr17:18061241 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.3217G>A (p.Ala1073Thr) single nucleotide variant not specified [RCV000825388] Chr17:18122017 [GRCh38]
Chr17:18025331 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8967+22T>G single nucleotide variant not provided [RCV000842883] Chr17:18157922 [GRCh38]
Chr17:18061236 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV000984934] Chr17:18119144..18119174 [GRCh38]
Chr17:18022458..18022488 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.515T>C (p.Leu172Pro) single nucleotide variant not specified [RCV000825971] Chr17:18119315 [GRCh38]
Chr17:18022629 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7467C>T (p.Pro2489=) single nucleotide variant not provided [RCV000915929] Chr17:18150907 [GRCh38]
Chr17:18054221 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.700G>C (p.Glu234Gln) single nucleotide variant not provided [RCV001772148]|not specified [RCV000825390] Chr17:18119500 [GRCh38]
Chr17:18022814 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4091_4099del (p.Arg1364_Asp1366del) deletion not specified [RCV000825394] Chr17:18131289..18131297 [GRCh38]
Chr17:18034603..18034611 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9517+2T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001001764]|Nonsyndromic genetic hearing loss [RCV002235474]|Rare genetic deafness [RCV000825569] Chr17:18161449 [GRCh38]
Chr17:18064763 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.3295C>T (p.Pro1099Ser) single nucleotide variant not specified [RCV000825968] Chr17:18122095 [GRCh38]
Chr17:18025409 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9619C>T (p.Arg3207Cys) single nucleotide variant not specified [RCV000825973] Chr17:18163250 [GRCh38]
Chr17:18066564 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4207-35G>T single nucleotide variant not provided [RCV000844506] Chr17:18132418 [GRCh38]
Chr17:18035732 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1863G>A (p.Lys621=) single nucleotide variant not provided [RCV000827582] Chr17:18120663 [GRCh38]
Chr17:18023977 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7254G>A (p.Gly2418=) single nucleotide variant not specified [RCV000825195] Chr17:18150470 [GRCh38]
Chr17:18053784 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6486G>A (p.Pro2162=) single nucleotide variant not specified [RCV000825196] Chr17:18146084 [GRCh38]
Chr17:18049398 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1261C>T (p.Pro421Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224973]|not specified [RCV000825386] Chr17:18120061 [GRCh38]
Chr17:18023375 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8967+50C>A single nucleotide variant not provided [RCV000835897] Chr17:18157950 [GRCh38]
Chr17:18061264 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4607G>T (p.Arg1536Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123869]|not provided [RCV001731952]|not specified [RCV000825966] Chr17:18136427 [GRCh38]
Chr17:18039741 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln) single nucleotide variant Inborn genetic diseases [RCV001266547]|not provided [RCV000992397] Chr17:18135789 [GRCh38]
Chr17:18039103 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.8460-29G>C single nucleotide variant not provided [RCV000827087] Chr17:18156166 [GRCh38]
Chr17:18059480 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6378G>C (p.Glu2126Asp) single nucleotide variant not specified [RCV000825396] Chr17:18145976 [GRCh38]
Chr17:18049290 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4461C>T (p.Asn1487=) single nucleotide variant not provided [RCV001593025]|not specified [RCV000825787] Chr17:18133365 [GRCh38]
Chr17:18036679 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1 copy number loss not provided [RCV001006874] Chr17:15632431..18726389 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_016239.4(MYO15A):c.10166G>A (p.Arg3389Gln) single nucleotide variant Inborn genetic diseases [RCV002557949]|not provided [RCV001090737] Chr17:18171721 [GRCh38]
Chr17:18075035 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2972G>C (p.Gly991Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000989768] Chr17:18121772 [GRCh38]
Chr17:18025086 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9034A>G (p.Met3012Val) single nucleotide variant not provided [RCV003238983] Chr17:18158589 [GRCh38]
Chr17:18061903 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10216+7G>A single nucleotide variant not provided [RCV000916821] Chr17:18171778 [GRCh38]
Chr17:18075092 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4206+9C>A single nucleotide variant not provided [RCV000840073] Chr17:18131540 [GRCh38]
Chr17:18034854 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7197G>A (p.Leu2399=) single nucleotide variant not provided [RCV000840078]|not specified [RCV001449677] Chr17:18149565 [GRCh38]
Chr17:18052879 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3795C>A (p.Tyr1265Ter) single nucleotide variant Rare genetic deafness [RCV000825534] Chr17:18126385 [GRCh38]
Chr17:18029699 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.9702C>T (p.Asp3234=) single nucleotide variant not provided [RCV000908952]|not specified [RCV000825791] Chr17:18163753 [GRCh38]
Chr17:18067067 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1398C>G (p.Pro466=) single nucleotide variant not provided [RCV000917865] Chr17:18120198 [GRCh38]
Chr17:18023512 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1585C>T (p.His529Tyr) single nucleotide variant not provided [RCV003442121]|not specified [RCV000825972] Chr17:18120385 [GRCh38]
Chr17:18023699 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.549T>C (p.Pro183=) single nucleotide variant not provided [RCV000827090] Chr17:18119349 [GRCh38]
Chr17:18022663 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.4032+45G>A single nucleotide variant not provided [RCV000842644] Chr17:18127210 [GRCh38]
Chr17:18030524 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9985G>A (p.Val3329Met) single nucleotide variant not provided [RCV000992401] Chr17:18167626 [GRCh38]
Chr17:18070940 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7500del (p.Thr2501fs) deletion not provided [RCV001008218] Chr17:18151136 [GRCh38]
Chr17:18054450 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.4429C>T (p.Arg1477Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000984935] Chr17:18133333 [GRCh38]
Chr17:18036647 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV000989770]|not provided [RCV001732007] Chr17:18122323..18122324 [GRCh38]
Chr17:18025637..18025638 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.4879G>T (p.Glu1627Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000851574] Chr17:18138118 [GRCh38]
Chr17:18041432 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3498C>T (p.Pro1166=) single nucleotide variant not specified [RCV001195458] Chr17:18122298 [GRCh38]
Chr17:18025612 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3867-4C>G single nucleotide variant not specified [RCV001195461] Chr17:18126787 [GRCh38]
Chr17:18030101 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1795_1798dup (p.Pro600fs) duplication not provided [RCV001008962] Chr17:18120593..18120594 [GRCh38]
Chr17:18023907..18023908 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000989767] Chr17:18120415 [GRCh38]
Chr17:18023729 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001250120] Chr17:18142102 [GRCh38]
Chr17:18045416 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4828G>A (p.Glu1610Lys) single nucleotide variant not provided [RCV003481488]|not specified [RCV003317920] Chr17:18137632 [GRCh38]
Chr17:18040946 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8552C>T (p.Ala2851Val) single nucleotide variant not specified [RCV003317921] Chr17:18156287 [GRCh38]
Chr17:18059601 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7385C>A (p.Ala2462Asp) single nucleotide variant not provided [RCV003312379] Chr17:18150755 [GRCh38]
Chr17:18054069 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1150G>A (p.Val384Ile) single nucleotide variant Inborn genetic diseases [RCV003290137] Chr17:18119950 [GRCh38]
Chr17:18023264 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8560G>A (p.Val2854Ile) single nucleotide variant Inborn genetic diseases [RCV003273265] Chr17:18156295 [GRCh38]
Chr17:18059609 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3724C>T (p.Leu1242Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV000989771] Chr17:18125199 [GRCh38]
Chr17:18028513 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4235T>A (p.Phe1412Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001328943]|not provided [RCV000996507] Chr17:18132481 [GRCh38]
Chr17:18035795 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9371A>G (p.Asn3124Ser) single nucleotide variant not provided [RCV000996508] Chr17:18160002 [GRCh38]
Chr17:18063316 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9691-3C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126927] Chr17:18163739 [GRCh38]
Chr17:18067053 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9231T>C (p.Ala3077=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124253] Chr17:18159607 [GRCh38]
Chr17:18062921 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7582A>G (p.Lys2528Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127116] Chr17:18151218 [GRCh38]
Chr17:18054532 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.*797C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127456] Chr17:18179667 [GRCh38]
Chr17:18082981 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9612+9_10082del deletion Rare genetic deafness [RCV001195429] Chr17:18162687..18167722 [GRCh38]
Chr17:18066001..18071036 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.603G>C (p.Glu201Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001125262] Chr17:18119403 [GRCh38]
Chr17:18022717 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2000del (p.Pro667fs) deletion not provided [RCV001008482] Chr17:18120796 [GRCh38]
Chr17:18024110 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.1688G>T (p.Arg563Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122574]|not provided [RCV003442209] Chr17:18120488 [GRCh38]
Chr17:18023802 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2978A>C (p.His993Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122665] Chr17:18121778 [GRCh38]
Chr17:18025092 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5212-13G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122876] Chr17:18140504 [GRCh38]
Chr17:18043818 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.5237A>G (p.His1746Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122877] Chr17:18140542 [GRCh38]
Chr17:18043856 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4581del (p.Thr1528fs) deletion not provided [RCV001008956] Chr17:18135809 [GRCh38]
Chr17:18039123 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7154A>G (p.Lys2385Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126714] Chr17:18149522 [GRCh38]
Chr17:18052836 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7180C>G (p.Leu2394Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126715] Chr17:18149548 [GRCh38]
Chr17:18052862 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9872T>C (p.Leu3291Pro) single nucleotide variant not provided [RCV003233372] Chr17:18166445 [GRCh38]
Chr17:18069759 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4858G>A (p.Val1620Ile) single nucleotide variant not provided [RCV003104994] Chr17:18137662 [GRCh38]
Chr17:18040976 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8088+62A>G single nucleotide variant not provided [RCV001641956] Chr17:18153958 [GRCh38]
Chr17:18057272 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.5910+17A>C single nucleotide variant not provided [RCV001576123] Chr17:18142857 [GRCh38]
Chr17:18046171 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.3756+1G>A single nucleotide variant not provided [RCV001576425] Chr17:18125232 [GRCh38]
Chr17:18028546 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8968-37G>T single nucleotide variant not provided [RCV001569677] Chr17:18158486 [GRCh38]
Chr17:18061800 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+181G>A single nucleotide variant not provided [RCV001577223] Chr17:18130991 [GRCh38]
Chr17:18034305 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10216+22A>C single nucleotide variant not provided [RCV001578230] Chr17:18171793 [GRCh38]
Chr17:18075107 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2095C>T (p.Arg699Cys) single nucleotide variant not provided [RCV001567375] Chr17:18120895 [GRCh38]
Chr17:18024209 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5649+1G>T single nucleotide variant not provided [RCV001575493] Chr17:18141771 [GRCh38]
Chr17:18045085 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003317922]|not provided [RCV003443200] Chr17:18161338 [GRCh38]
Chr17:18064652 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001533147] Chr17:18157172 [GRCh38]
Chr17:18060486 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6956+1G>A single nucleotide variant not provided [RCV001575836] Chr17:18148953 [GRCh38]
Chr17:18052267 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.6178-138dup duplication not provided [RCV001612060] Chr17:18144357..18144358 [GRCh38]
Chr17:18047671..18047672 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.5844GAG[2] (p.Arg1950del) microsatellite not provided [RCV001560636] Chr17:18142774..18142776 [GRCh38]
Chr17:18046088..18046090 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.-219-289G>A single nucleotide variant not provided [RCV001671480] Chr17:18118293 [GRCh38]
Chr17:18021607 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.8460-55G>A single nucleotide variant not provided [RCV001684398] Chr17:18156140 [GRCh38]
Chr17:18059454 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.5133+26A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001779287]|not provided [RCV001660785] Chr17:18138962 [GRCh38]
Chr17:18042276 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.8971C>T (p.Pro2991Ser) single nucleotide variant not provided [RCV001593381] Chr17:18158526 [GRCh38]
Chr17:18061840 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4597-52C>T single nucleotide variant not provided [RCV001639086] Chr17:18136365 [GRCh38]
Chr17:18039679 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.10350+296G>A single nucleotide variant not provided [RCV001679648] Chr17:18172586 [GRCh38]
Chr17:18075900 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.3941+35G>C single nucleotide variant not provided [RCV001556296] Chr17:18126900 [GRCh38]
Chr17:18030214 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5531+135C>T single nucleotide variant not provided [RCV001685064] Chr17:18141278 [GRCh38]
Chr17:18044592 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.4321-256A>G single nucleotide variant not provided [RCV001615710] Chr17:18132969 [GRCh38]
Chr17:18036283 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.8065del (p.Trp2689fs) deletion not provided [RCV001561851] Chr17:18153873 [GRCh38]
Chr17:18057187 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7787+76T>C single nucleotide variant not provided [RCV001654404] Chr17:18151603 [GRCh38]
Chr17:18054917 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.7788-10A>G single nucleotide variant not provided [RCV001562807] Chr17:18151836 [GRCh38]
Chr17:18055150 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4596+125A>T single nucleotide variant not provided [RCV001681950] Chr17:18135949 [GRCh38]
Chr17:18039263 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.8789-196T>C single nucleotide variant not provided [RCV001557924] Chr17:18157526 [GRCh38]
Chr17:18060840 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6273+226_6273+227dup duplication not provided [RCV001718401] Chr17:18144800..18144801 [GRCh38]
Chr17:18048114..18048115 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.3757-81G>A single nucleotide variant not provided [RCV001551994] Chr17:18126266 [GRCh38]
Chr17:18029580 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10202G>A (p.Arg3401His) single nucleotide variant not provided [RCV001546686] Chr17:18171757 [GRCh38]
Chr17:18075071 [GRCh37]
Chr17:17p11.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.2478A>C (p.Pro826=) single nucleotide variant not provided [RCV001570808] Chr17:18121278 [GRCh38]
Chr17:18024592 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9949-301C>G single nucleotide variant not provided [RCV001546946] Chr17:18167289 [GRCh38]
Chr17:18070603 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4876-8G>A single nucleotide variant not provided [RCV001588306] Chr17:18138107 [GRCh38]
Chr17:18041421 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10350+160C>G single nucleotide variant not provided [RCV001590090] Chr17:18172450 [GRCh38]
Chr17:18075764 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4597-272A>G single nucleotide variant not provided [RCV001574274] Chr17:18136145 [GRCh38]
Chr17:18039459 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10082+38G>A single nucleotide variant not provided [RCV001574304] Chr17:18167761 [GRCh38]
Chr17:18071075 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5211+51C>A single nucleotide variant not provided [RCV001609958] Chr17:18139662 [GRCh38]
Chr17:18042976 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.2926C>T (p.Leu976Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122664]|not provided [RCV000918226] Chr17:18121726 [GRCh38]
Chr17:18025040 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.8224+7C>T single nucleotide variant not provided [RCV000905013] Chr17:18154762 [GRCh38]
Chr17:18058076 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5406+7G>A single nucleotide variant not provided [RCV000932378] Chr17:18140839 [GRCh38]
Chr17:18044153 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+8GT[33] microsatellite not provided [RCV000954506] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.3870C>T (p.His1290=) single nucleotide variant not provided [RCV000980413] Chr17:18126794 [GRCh38]
Chr17:18030108 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+8GT[31] microsatellite not provided [RCV000953039] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.2055G>C (p.Ser685=) single nucleotide variant not provided [RCV000901291] Chr17:18120855 [GRCh38]
Chr17:18024169 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6692-7G>A single nucleotide variant not provided [RCV000879679] Chr17:18148489 [GRCh38]
Chr17:18051803 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+8GT[24] microsatellite not provided [RCV000950472] Chr17:18130818..18130823 [GRCh38]
Chr17:18034132..18034137 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.150G>A (p.Lys50=) single nucleotide variant not provided [RCV000915050] Chr17:18118950 [GRCh38]
Chr17:18022264 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.165C>T (p.Ser55=) single nucleotide variant not provided [RCV000917331] Chr17:18118965 [GRCh38]
Chr17:18022279 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1359C>T (p.Pro453=) single nucleotide variant not provided [RCV000910867] Chr17:18120159 [GRCh38]
Chr17:18023473 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4710G>A (p.Arg1570=) single nucleotide variant not provided [RCV000933397] Chr17:18136617 [GRCh38]
Chr17:18039931 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2445C>T (p.Arg815=) single nucleotide variant not provided [RCV000902355] Chr17:18121245 [GRCh38]
Chr17:18024559 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.768G>A (p.Glu256=) single nucleotide variant not provided [RCV000929337] Chr17:18119568 [GRCh38]
Chr17:18022882 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2823C>T (p.Ser941=) single nucleotide variant not provided [RCV000887084] Chr17:18121623 [GRCh38]
Chr17:18024937 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6654G>A (p.Glu2218=) single nucleotide variant not provided [RCV000887085] Chr17:18148173 [GRCh38]
Chr17:18051487 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+8GT[21] microsatellite not provided [RCV000909622] Chr17:18130818..18130829 [GRCh38]
Chr17:18034132..18034143 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6795C>T (p.Thr2265=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124059]|not provided [RCV000933448] Chr17:18148791 [GRCh38]
Chr17:18052105 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.4038+8GT[18] microsatellite not provided [RCV000899018] Chr17:18130818..18130835 [GRCh38]
Chr17:18034132..18034149 [GRCh37]
Chr17:17p11.2
benign
GRCh37/hg19 17p11.2(chr17:17805688-18067279)x1 copy number loss not provided [RCV001006879] Chr17:17805688..18067279 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8089-7C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126831] Chr17:18154124 [GRCh38]
Chr17:18057438 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6255C>T (p.Ala2085=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127024] Chr17:18144574 [GRCh38]
Chr17:18047888 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6273+15C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127025] Chr17:18144607 [GRCh38]
Chr17:18047921 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.9912C>T (p.Phe3304=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127347] Chr17:18166485 [GRCh38]
Chr17:18069799 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001089567] Chr17:18154693 [GRCh38]
Chr17:18058007 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.2805C>T (p.Pro935=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122662] Chr17:18121605 [GRCh38]
Chr17:18024919 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7782C>A (p.Ala2594=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123078] Chr17:18151522 [GRCh38]
Chr17:18054836 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8825G>A (p.Arg2942His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123166] Chr17:18157758 [GRCh38]
Chr17:18061072 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.-224C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128211] Chr17:18108820 [GRCh38]
Chr17:18012134 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1259C>T (p.Ser420Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128289] Chr17:18120059 [GRCh38]
Chr17:18023373 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2612C>T (p.Thr871Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128383] Chr17:18121412 [GRCh38]
Chr17:18024726 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3679A>G (p.Met1227Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128471] Chr17:18124552 [GRCh38]
Chr17:18027866 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9506T>C (p.Leu3169Pro) single nucleotide variant not provided [RCV000911094] Chr17:18161436 [GRCh38]
Chr17:18064750 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9423C>T (p.Ile3141=) single nucleotide variant not provided [RCV000890495] Chr17:18161353 [GRCh38]
Chr17:18064667 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8346C>T (p.Ser2782=) single nucleotide variant not provided [RCV000913668] Chr17:18155319 [GRCh38]
Chr17:18058633 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1041G>A (p.Ala347=) single nucleotide variant not provided [RCV000911455] Chr17:18119841 [GRCh38]
Chr17:18023155 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7202A>G (p.Tyr2401Cys) single nucleotide variant not provided [RCV000911092] Chr17:18149570 [GRCh38]
Chr17:18052884 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7788-5C>T single nucleotide variant not provided [RCV000911093] Chr17:18151841 [GRCh38]
Chr17:18055155 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.4032+226A>T single nucleotide variant not provided [RCV001577149] Chr17:18127391 [GRCh38]
Chr17:18030705 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2729C>A (p.Pro910Gln) single nucleotide variant Inborn genetic diseases [RCV002836627] Chr17:18121529 [GRCh38]
Chr17:18024843 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2354G>T (p.Gly785Val) single nucleotide variant not provided [RCV001556791] Chr17:18121154 [GRCh38]
Chr17:18024468 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4602_4603del (p.Met1535fs) deletion not provided [RCV001557013] Chr17:18136422..18136423 [GRCh38]
Chr17:18039736..18039737 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003232059] Chr17:18148130 [GRCh38]
Chr17:18051444 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8149-87A>G single nucleotide variant not provided [RCV001677278] Chr17:18154593 [GRCh38]
Chr17:18057907 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.8944C>G (p.Gln2982Glu) single nucleotide variant not provided [RCV001732511] Chr17:18157877 [GRCh38]
Chr17:18061191 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2014T>C (p.Ser672Pro) single nucleotide variant not provided [RCV001563124] Chr17:18120814 [GRCh38]
Chr17:18024128 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9517+180T>G single nucleotide variant not provided [RCV001598294] Chr17:18161627 [GRCh38]
Chr17:18064941 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.8488C>A (p.Pro2830Thr) single nucleotide variant not provided [RCV003328030] Chr17:18156223 [GRCh38]
Chr17:18059537 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002251010] Chr17:18120658 [GRCh38]
Chr17:18023972 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.581G>A (p.Arg194His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002251207] Chr17:18119381 [GRCh38]
Chr17:18022695 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10083-8G>A single nucleotide variant not provided [RCV001553277] Chr17:18171630 [GRCh38]
Chr17:18074944 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9229+49C>T single nucleotide variant not provided [RCV001555139] Chr17:18159396 [GRCh38]
Chr17:18062710 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+78G>A single nucleotide variant not provided [RCV001565854] Chr17:18130888 [GRCh38]
Chr17:18034202 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3866+35T>C single nucleotide variant not provided [RCV001594208] Chr17:18126491 [GRCh38]
Chr17:18029805 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3693-123G>A single nucleotide variant not provided [RCV001594260] Chr17:18125045 [GRCh38]
Chr17:18028359 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8019del (p.His2674fs) deletion not provided [RCV001596520] Chr17:18153827 [GRCh38]
Chr17:18057141 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3866+18G>A single nucleotide variant not provided [RCV001568946] Chr17:18126474 [GRCh38]
Chr17:18029788 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.2302C>A (p.Arg768=) single nucleotide variant not provided [RCV001560952] Chr17:18121102 [GRCh38]
Chr17:18024416 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7967-33T>C single nucleotide variant not provided [RCV001569154] Chr17:18153742 [GRCh38]
Chr17:18057056 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8750T>A (p.Val2917Glu) single nucleotide variant not provided [RCV002467212] Chr17:18157192 [GRCh38]
Chr17:18060506 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3756+5G>T single nucleotide variant not provided [RCV002464719] Chr17:18125236 [GRCh38]
Chr17:18028550 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) insertion Autosomal recessive nonsyndromic hearing loss 3 [RCV001824912]|not provided [RCV001008493] Chr17:18163816..18163817 [GRCh38]
Chr17:18067130..18067131 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|not provided
NM_016239.4(MYO15A):c.8602-76G>A single nucleotide variant not provided [RCV001649942] Chr17:18156878 [GRCh38]
Chr17:18060192 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.2163C>T (p.Phe721=) single nucleotide variant not provided [RCV001541206] Chr17:18120963 [GRCh38]
Chr17:18024277 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8789-161C>T single nucleotide variant not provided [RCV001715850] Chr17:18157561 [GRCh38]
Chr17:18060875 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.6764+93T>C single nucleotide variant not provided [RCV001695657] Chr17:18148661 [GRCh38]
Chr17:18051975 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.3866+87C>T single nucleotide variant not provided [RCV001657010] Chr17:18126543 [GRCh38]
Chr17:18029857 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.5407-63T>C single nucleotide variant not provided [RCV001655356] Chr17:18140956 [GRCh38]
Chr17:18044270 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.3141C>G (p.Pro1047=) single nucleotide variant not provided [RCV001589417] Chr17:18121941 [GRCh38]
Chr17:18025255 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9387-315C>T single nucleotide variant not provided [RCV001685138] Chr17:18161002 [GRCh38]
Chr17:18064316 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9229+29C>G single nucleotide variant not provided [RCV001539222] Chr17:18159376 [GRCh38]
Chr17:18062690 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4666G>A (p.Ala1556Thr) single nucleotide variant not provided [RCV001723390] Chr17:18136573 [GRCh38]
Chr17:18039887 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9949-143G>A single nucleotide variant not provided [RCV001597331] Chr17:18167447 [GRCh38]
Chr17:18070761 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9787+252A>G single nucleotide variant not provided [RCV001672233] Chr17:18164090 [GRCh38]
Chr17:18067404 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.6273+225_6273+227dup duplication not provided [RCV001654936] Chr17:18144800..18144801 [GRCh38]
Chr17:18048114..18048115 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.10082+1G>A single nucleotide variant not provided [RCV001723458] Chr17:18167724 [GRCh38]
Chr17:18071038 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.5211+181G>A single nucleotide variant not provided [RCV001616819] Chr17:18139792 [GRCh38]
Chr17:18043106 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9948+227A>G single nucleotide variant not provided [RCV001650235] Chr17:18166748 [GRCh38]
Chr17:18070062 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9785G>A (p.Arg3262His) single nucleotide variant not provided [RCV001653051] Chr17:18163836 [GRCh38]
Chr17:18067150 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9518-162G>C single nucleotide variant not provided [RCV001715786] Chr17:18162423 [GRCh38]
Chr17:18065737 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.5910+136T>C single nucleotide variant not provided [RCV001715466] Chr17:18142976 [GRCh38]
Chr17:18046290 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.2174C>G (p.Pro725Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002477875]|not provided [RCV001658828] Chr17:18120974 [GRCh38]
Chr17:18024288 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3867-24A>C single nucleotide variant not provided [RCV001596030] Chr17:18126767 [GRCh38]
Chr17:18030081 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9517+36G>A single nucleotide variant not provided [RCV001689260] Chr17:18161483 [GRCh38]
Chr17:18064797 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.2012G>A (p.Ser671Asn) single nucleotide variant Inborn genetic diseases [RCV003161158]|not provided [RCV001658890] Chr17:18120812 [GRCh38]
Chr17:18024126 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6457G>A (p.Ala2153Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122991]|Inborn genetic diseases [RCV002558217] Chr17:18146055 [GRCh38]
Chr17:18049369 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.6601G>C (p.Gly2201Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122992] Chr17:18148120 [GRCh38]
Chr17:18051434 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7662C>A (p.Pro2554=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123075] Chr17:18151402 [GRCh38]
Chr17:18054716 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.-236C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128210] Chr17:18108808 [GRCh38]
Chr17:18012122 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3320G>A (p.Arg1107His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123768] Chr17:18122120 [GRCh38]
Chr17:18025434 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7990C>A (p.Pro2664Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124161] Chr17:18153798 [GRCh38]
Chr17:18057112 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.*210A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001125370] Chr17:18179080 [GRCh38]
Chr17:18082394 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.*369C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001125372] Chr17:18179239 [GRCh38]
Chr17:18082553 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126337]|Inborn genetic diseases [RCV002556743]|not provided [RCV001664700] Chr17:18120845 [GRCh38]
Chr17:18024159 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC indel Autosomal recessive nonsyndromic hearing loss 3 [RCV001004801] Chr17:18151485..18154932 [GRCh38]
Chr17:18054799..18058246 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.853G>A (p.Asp285Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126237] Chr17:18119653 [GRCh38]
Chr17:18022967 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2070G>C (p.Pro690=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126338] Chr17:18120870 [GRCh38]
Chr17:18024184 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126339]|Inborn genetic diseases [RCV002556744]|not provided [RCV001856653] Chr17:18120916 [GRCh38]
Chr17:18024230 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.8651C>T (p.Ala2884Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127232] Chr17:18157003 [GRCh38]
Chr17:18060317 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9755A>G (p.Asn3252Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127345] Chr17:18163806 [GRCh38]
Chr17:18067120 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7266C>T (p.Pro2422=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126716]|not provided [RCV002556759] Chr17:18150482 [GRCh38]
Chr17:18053796 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.8315A>C (p.Tyr2772Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126832] Chr17:18155200 [GRCh38]
Chr17:18058514 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9585C>T (p.Pro3195=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126925] Chr17:18162652 [GRCh38]
Chr17:18065966 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7763G>A (p.Arg2588Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123077] Chr17:18151503 [GRCh38]
Chr17:18054817 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9859G>A (p.Gly3287Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127346] Chr17:18166432 [GRCh38]
Chr17:18069746 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.63G>A (p.Pro21=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122476] Chr17:18118863 [GRCh38]
Chr17:18022177 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1613G>A (p.Arg538His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122573]|Inborn genetic diseases [RCV002556643]|not provided [RCV003324817] Chr17:18120413 [GRCh38]
Chr17:18023727 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1444C>G (p.Arg482Gly) single nucleotide variant not specified [RCV001195241] Chr17:18120244 [GRCh38]
Chr17:18023558 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.-223G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128212] Chr17:18108821 [GRCh38]
Chr17:18012135 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.917G>A (p.Gly306Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128285]|not provided [RCV002556805] Chr17:18119717 [GRCh38]
Chr17:18023031 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4391T>C (p.Val1464Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123865] Chr17:18133295 [GRCh38]
Chr17:18036609 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.*535G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127454] Chr17:18179405 [GRCh38]
Chr17:18082719 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.*649C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127455] Chr17:18179519 [GRCh38]
Chr17:18082833 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9741C>A (p.Arg3247=) single nucleotide variant not provided [RCV002069273]|not specified [RCV001195459] Chr17:18163792 [GRCh38]
Chr17:18067106 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8928C>G (p.Ala2976=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123168] Chr17:18157861 [GRCh38]
Chr17:18061175 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9072G>A (p.Gln3024=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123170]|not provided [RCV002556659] Chr17:18158627 [GRCh38]
Chr17:18061941 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.3807A>G (p.Gly1269=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128472] Chr17:18126397 [GRCh38]
Chr17:18029711 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.5407-5T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122879] Chr17:18141014 [GRCh38]
Chr17:18044328 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1903G>C (p.Ala635Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123658] Chr17:18120703 [GRCh38]
Chr17:18024017 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8788+230_8788+233del deletion not provided [RCV001614080] Chr17:18157459..18157462 [GRCh38]
Chr17:18060773..18060776 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.10082+175C>T single nucleotide variant not provided [RCV001710529] Chr17:18167898 [GRCh38]
Chr17:18071212 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.6273+227dup duplication not provided [RCV001714734] Chr17:18144800..18144801 [GRCh38]
Chr17:18048114..18048115 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9387-141A>G single nucleotide variant not provided [RCV001588674] Chr17:18161176 [GRCh38]
Chr17:18064490 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3751A>C (p.Ile1251Leu) single nucleotide variant Inborn genetic diseases [RCV002559648]|not provided [RCV001171927] Chr17:18125226 [GRCh38]
Chr17:18028540 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5197C>A (p.Arg1733=) single nucleotide variant not provided [RCV001171928] Chr17:18139597 [GRCh38]
Chr17:18042911 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2150G>C (p.Ser717Thr) single nucleotide variant Inborn genetic diseases [RCV002579457]|not provided [RCV001587781] Chr17:18120950 [GRCh38]
Chr17:18024264 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.3693-164C>G single nucleotide variant not provided [RCV001708659] Chr17:18125004 [GRCh38]
Chr17:18028318 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.6957-64= single nucleotide variant not provided [RCV001708518] Chr17:18149152 [GRCh38]
Chr17:18052466 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV001089568] Chr17:18160000..18160001 [GRCh38]
Chr17:18063314..18063315 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.5212-65C>G single nucleotide variant not provided [RCV001692505] Chr17:18140452 [GRCh38]
Chr17:18043766 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.6274-49G>A single nucleotide variant not provided [RCV001616435] Chr17:18145823 [GRCh38]
Chr17:18049137 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.4206+174G>A single nucleotide variant not provided [RCV001648457] Chr17:18131705 [GRCh38]
Chr17:18035019 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9612+149C>T single nucleotide variant not provided [RCV001615843] Chr17:18162828 [GRCh38]
Chr17:18066142 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.8061C>A (p.Ala2687=) single nucleotide variant not provided [RCV001546411] Chr17:18153869 [GRCh38]
Chr17:18057183 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5407-62G>A single nucleotide variant not provided [RCV001590044] Chr17:18140957 [GRCh38]
Chr17:18044271 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8968-309T>G single nucleotide variant not provided [RCV001536421] Chr17:18158214 [GRCh38]
Chr17:18061528 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.4038+15T>C single nucleotide variant not provided [RCV001545433] Chr17:18130825 [GRCh38]
Chr17:18034139 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9156+132G>A single nucleotide variant not provided [RCV001710245] Chr17:18159129 [GRCh38]
Chr17:18062443 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His) single nucleotide variant Inborn genetic diseases [RCV002559238]|not provided [RCV001876269]|not specified [RCV001195456] Chr17:18121922 [GRCh38]
Chr17:18025236 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5217G>A (p.Val1739=) single nucleotide variant not specified [RCV001195460] Chr17:18140522 [GRCh38]
Chr17:18043836 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001199126]|Hearing impairment [RCV001375261] Chr17:18121477 [GRCh38]
Chr17:18024791 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.7894-3C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123079] Chr17:18152109 [GRCh38]
Chr17:18055423 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9067C>T (p.Pro3023Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123169] Chr17:18158622 [GRCh38]
Chr17:18061936 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123763]|not provided [RCV001472463]|not specified [RCV001195457] Chr17:18121933 [GRCh38]
Chr17:18025247 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3275C>T (p.Ala1092Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123767] Chr17:18122075 [GRCh38]
Chr17:18025389 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5776C>T (p.Arg1926Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123947] Chr17:18142205 [GRCh38]
Chr17:18045519 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10420A>G (p.Ser3474Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124371]|not provided [RCV001517572] Chr17:18173850 [GRCh38]
Chr17:18077164 [GRCh37]
Chr17:17p11.2
benign|likely benign|uncertain significance
NM_016239.4(MYO15A):c.6554A>T (p.Gln2185Leu) single nucleotide variant not provided [RCV001171929] Chr17:18148073 [GRCh38]
Chr17:18051387 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3317G>A (p.Arg1106Gln) single nucleotide variant Inborn genetic diseases [RCV003363133]|not provided [RCV001171926] Chr17:18122117 [GRCh38]
Chr17:18025431 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002491675]|not provided [RCV001217315] Chr17:18145969 [GRCh38]
Chr17:18049283 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.*324T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001125371] Chr17:18179194 [GRCh38]
Chr17:18082508 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224975]|not specified [RCV001195238] Chr17:18138137 [GRCh38]
Chr17:18041451 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.4026G>A (p.Met1342Ile) single nucleotide variant not specified [RCV001195242] Chr17:18127159 [GRCh38]
Chr17:18030473 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1589C>T (p.Pro530Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122572]|Inborn genetic diseases [RCV002556642] Chr17:18120389 [GRCh38]
Chr17:18023703 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+11T>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122776] Chr17:18130821 [GRCh38]
Chr17:18034135 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2200G>A (p.Asp734Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126340] Chr17:18121000 [GRCh38]
Chr17:18024314 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.4015C>T (p.Arg1339Trp) single nucleotide variant not provided [RCV002560188]|not specified [RCV001195237] Chr17:18127148 [GRCh38]
Chr17:18030462 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln) single nucleotide variant not provided [RCV003327493]|not specified [RCV001195243] Chr17:18140593 [GRCh38]
Chr17:18043907 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs) deletion Rare genetic deafness [RCV001195278] Chr17:18121805 [GRCh38]
Chr17:18025119 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001249185] Chr17:18133358 [GRCh38]
Chr17:18036672 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8115C>T (p.Ser2705=) single nucleotide variant not specified [RCV001195462] Chr17:18154157 [GRCh38]
Chr17:18057471 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8892C>T (p.Gly2964=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123167]|not provided [RCV002558219] Chr17:18157825 [GRCh38]
Chr17:18061139 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.9706G>A (p.Val3236Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001126928] Chr17:18163757 [GRCh38]
Chr17:18067071 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8334C>T (p.Pro2778=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127230]|not provided [RCV002070080] Chr17:18155219 [GRCh38]
Chr17:18058533 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.9984T>C (p.Ser3328=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001127348] Chr17:18167625 [GRCh38]
Chr17:18070939 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6899A>C (p.Lys2300Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124060]|Inborn genetic diseases [RCV002556686] Chr17:18148895 [GRCh38]
Chr17:18052209 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124254]|Hearing impairment [RCV001849474] Chr17:18161397 [GRCh38]
Chr17:18064711 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.2920C>T (p.Pro974Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122663] Chr17:18121720 [GRCh38]
Chr17:18025034 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1043C>A (p.Pro348Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128286]|Inborn genetic diseases [RCV002558259] Chr17:18119843 [GRCh38]
Chr17:18023157 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3891C>T (p.Leu1297=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001128475] Chr17:18126815 [GRCh38]
Chr17:18030129 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.4507G>T (p.Val1503Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001123867] Chr17:18135735 [GRCh38]
Chr17:18039049 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8054A>G (p.Gln2685Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001124162] Chr17:18153862 [GRCh38]
Chr17:18057176 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.*473G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001125373] Chr17:18179343 [GRCh38]
Chr17:18082657 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4207-3C>G single nucleotide variant not specified [RCV001195240] Chr17:18132450 [GRCh38]
Chr17:18035764 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3988C>T (p.Arg1330Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122774]|not provided [RCV001776119] Chr17:18127121 [GRCh38]
Chr17:18030435 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5354T>C (p.Met1785Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001122878]|Inborn genetic diseases [RCV002556650] Chr17:18140659 [GRCh38]
Chr17:18043973 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1 copy number loss not provided [RCV001259291] Chr17:16763370..20395611 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1 copy number loss not provided [RCV001259296] Chr17:15810015..18537436 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_016239.4(MYO15A):c.4057del (p.Leu1353fs) deletion Inborn genetic diseases [RCV001267193]|not provided [RCV002537697] Chr17:18131254 [GRCh38]
Chr17:18034568 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3080C>T (p.Thr1027Ile) single nucleotide variant not provided [RCV001663611] Chr17:18121880 [GRCh38]
Chr17:18025194 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.25A>G (p.Lys9Glu) single nucleotide variant not provided [RCV002284741] Chr17:18118825 [GRCh38]
Chr17:18022139 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8375T>C (p.Val2792Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001254926] Chr17:18155348 [GRCh38]
Chr17:18058662 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10373del (p.Leu3458fs) deletion Inborn genetic diseases [RCV001266950] Chr17:18173803 [GRCh38]
Chr17:18077117 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001265209] Chr17:18119507 [GRCh38]
Chr17:18022821 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV001265211] Chr17:18157827..18157828 [GRCh38]
Chr17:18061141..18061142 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV001265210] Chr17:18135798..18135799 [GRCh38]
Chr17:18039112..18039113 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7994dup (p.Pro2665_Glu2666insTer) duplication Deafness, autosomal recessive 3 [RCV001333914] Chr17:18153797..18153798 [GRCh38]
Chr17:18057111..18057112 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.823G>A (p.Gly275Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001333915]|not provided [RCV001859318] Chr17:18119623 [GRCh38]
Chr17:18022937 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10472T>A (p.Leu3491Ter) single nucleotide variant Deafness, autosomal recessive 3 [RCV001333909] Chr17:18173902 [GRCh38]
Chr17:18077216 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10585del (p.Leu3529fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001265212] Chr17:18178860 [GRCh38]
Chr17:18082174 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3 copy number gain not provided [RCV001259290] Chr17:16761814..20330062 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17151140-20187953) copy number loss Smith-Magenis syndrome [RCV002280652] Chr17:17151140..20187953 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1337A>T (p.Gln446Leu) single nucleotide variant Inborn genetic diseases [RCV001267400] Chr17:18120137 [GRCh38]
Chr17:18023451 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7966+77G>C single nucleotide variant not provided [RCV001539166] Chr17:18152261 [GRCh38]
Chr17:18055575 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p11.2(chr17:17145361-20137943) copy number loss Smith-Magenis syndrome [RCV001352632] Chr17:17145361..20137943 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16601603-20063369) copy number gain Potocki-Lupski syndrome [RCV001352635] Chr17:16601603..20063369 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1603del (p.Leu535fs) deletion not provided [RCV001560679] Chr17:18120402 [GRCh38]
Chr17:18023716 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.5777G>A (p.Arg1926His) single nucleotide variant Childhood onset hearing loss [RCV001328008]|not provided [RCV001863183] Chr17:18142206 [GRCh38]
Chr17:18045520 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2452C>A (p.Arg818Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001328942] Chr17:18121252 [GRCh38]
Chr17:18024566 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1277C>T (p.Ala426Val) single nucleotide variant not provided [RCV001288310] Chr17:18120077 [GRCh38]
Chr17:18023391 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9620G>T (p.Arg3207Leu) single nucleotide variant Hearing impairment [RCV001375260] Chr17:18163251 [GRCh38]
Chr17:18066565 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.3359G>A (p.Arg1120His) single nucleotide variant not provided [RCV001357171] Chr17:18122159 [GRCh38]
Chr17:18025473 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.4462G>A (p.Val1488Ile) single nucleotide variant not provided [RCV002557521]|not specified [RCV001449825] Chr17:18133366 [GRCh38]
Chr17:18036680 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7473+2T>G single nucleotide variant not provided [RCV002597608] Chr17:18150915 [GRCh38]
Chr17:18054229 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.5491G>A (p.Gly1831Arg) single nucleotide variant Hearing impairment [RCV001375263] Chr17:18141103 [GRCh38]
Chr17:18044417 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.9515A>G (p.Gln3172Arg) single nucleotide variant Hearing impairment [RCV001375384]|not provided [RCV001865879] Chr17:18161445 [GRCh38]
Chr17:18064759 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6302T>C (p.Leu2101Pro) single nucleotide variant Childhood onset hearing loss [RCV001328012]|not provided [RCV001586129] Chr17:18145900 [GRCh38]
Chr17:18049214 [GRCh37]
Chr17:17p11.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6258G>A (p.Val2086=) single nucleotide variant not provided [RCV002284821] Chr17:18144577 [GRCh38]
Chr17:18047891 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1238G>C (p.Trp413Ser) single nucleotide variant Hearing impairment [RCV001375143] Chr17:18120038 [GRCh38]
Chr17:18023352 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6911T>C (p.Ile2304Thr) single nucleotide variant not provided [RCV001357764] Chr17:18148907 [GRCh38]
Chr17:18052221 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224976]|Rare genetic deafness [RCV001449688]|not provided [RCV001572126] Chr17:18132498 [GRCh38]
Chr17:18035812 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.4039A>T (p.Ile1347Phe) single nucleotide variant Hearing impairment [RCV001375285] Chr17:18131239 [GRCh38]
Chr17:18034553 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.2873del (p.Pro958fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV003333765]|Hearing impairment [RCV001375289] Chr17:18121669 [GRCh38]
Chr17:18024983 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp) single nucleotide variant not provided [RCV002284490]|not specified [RCV001449678] Chr17:18151502 [GRCh38]
Chr17:18054816 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.8281G>A (p.Val2761Met) single nucleotide variant Hearing impairment [RCV001375313]|Inborn genetic diseases [RCV002550215] Chr17:18155166 [GRCh38]
Chr17:18058480 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3585C>T (p.Val1195=) single nucleotide variant not specified [RCV001449849] Chr17:18122385 [GRCh38]
Chr17:18025699 [GRCh37]
Chr17:17p11.2
risk factor|likely benign
NM_016239.4(MYO15A):c.266A>C (p.Gln89Pro) single nucleotide variant Hearing impairment [RCV001375222] Chr17:18119066 [GRCh38]
Chr17:18022380 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9583C>T (p.Pro3195Ser) single nucleotide variant Hearing impairment [RCV001375274] Chr17:18162650 [GRCh38]
Chr17:18065964 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8261C>T (p.Thr2754Met) single nucleotide variant Hearing impairment [RCV001375276] Chr17:18155146 [GRCh38]
Chr17:18058460 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7925C>T (p.Pro2642Leu) single nucleotide variant Alport syndrome [RCV001375387]|not provided [RCV002550218] Chr17:18152143 [GRCh38]
Chr17:18055457 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4216G>A (p.Glu1406Lys) single nucleotide variant Childhood onset hearing loss [RCV001328011]|not provided [RCV001539883] Chr17:18132462 [GRCh38]
Chr17:18035776 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.4821C>A (p.Tyr1607Ter) single nucleotide variant not provided [RCV001382216] Chr17:18137625 [GRCh38]
Chr17:18040939 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7267G>A (p.Gly2423Ser) single nucleotide variant Inborn genetic diseases [RCV003355497]|not provided [RCV001487094] Chr17:18150483 [GRCh38]
Chr17:18053797 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7015del (p.Glu2339fs) deletion not provided [RCV001380389] Chr17:18149273 [GRCh38]
Chr17:18052587 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8940dup (p.Ala2981fs) duplication not provided [RCV001385110] Chr17:18157872..18157873 [GRCh38]
Chr17:18061186..18061187 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5768G>A (p.Arg1923His) single nucleotide variant not provided [RCV001481437] Chr17:18142197 [GRCh38]
Chr17:18045511 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7395+23G>C single nucleotide variant not provided [RCV001540014] Chr17:18150788 [GRCh38]
Chr17:18054102 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.850G>A (p.Glu284Lys) single nucleotide variant not provided [RCV001397935] Chr17:18119650 [GRCh38]
Chr17:18022964 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.3609+21C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001779318]|not provided [RCV001695124] Chr17:18122430 [GRCh38]
Chr17:18025744 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.4780-208C>T single nucleotide variant not provided [RCV001654818] Chr17:18137376 [GRCh38]
Chr17:18040690 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.3897C>T (p.Phe1299=) single nucleotide variant not provided [RCV001592679] Chr17:18126821 [GRCh38]
Chr17:18030135 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9304-81G>T single nucleotide variant not provided [RCV001592775] Chr17:18159854 [GRCh38]
Chr17:18063168 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10350+22C>G single nucleotide variant not provided [RCV001582266] Chr17:18172312 [GRCh38]
Chr17:18075626 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7787+27G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001779305]|not provided [RCV001671860] Chr17:18151554 [GRCh38]
Chr17:18054868 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.5825+73G>A single nucleotide variant not provided [RCV001654614] Chr17:18142327 [GRCh38]
Chr17:18045641 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.5532-74G>A single nucleotide variant not provided [RCV001671874] Chr17:18141579 [GRCh38]
Chr17:18044893 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9690+156C>T single nucleotide variant not provided [RCV001715785] Chr17:18163477 [GRCh38]
Chr17:18066791 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9386+110T>C single nucleotide variant not provided [RCV001686137] Chr17:18160127 [GRCh38]
Chr17:18063441 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.4718C>T (p.Ala1573Val) single nucleotide variant not provided [RCV001424744] Chr17:18136625 [GRCh38]
Chr17:18039939 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7474-76C>G single nucleotide variant not provided [RCV001539102] Chr17:18151034 [GRCh38]
Chr17:18054348 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8548C>T (p.Arg2850Ter) single nucleotide variant not provided [RCV001727025] Chr17:18156283 [GRCh38]
Chr17:18059597 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.593C>T (p.Ala198Val) single nucleotide variant not provided [RCV001756417] Chr17:18119393 [GRCh38]
Chr17:18022707 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10217-28G>A single nucleotide variant not provided [RCV001732730] Chr17:18172129 [GRCh38]
Chr17:18075443 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8896G>A (p.Gly2966Ser) single nucleotide variant not specified [RCV002238646] Chr17:18157829 [GRCh38]
Chr17:18061143 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.526T>C (p.Ser176Pro) single nucleotide variant Inborn genetic diseases [RCV003346681]|not provided [RCV001754952] Chr17:18119326 [GRCh38]
Chr17:18022640 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.950C>T (p.Ala317Val) single nucleotide variant not provided [RCV002284850] Chr17:18119750 [GRCh38]
Chr17:18023064 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.902C>T (p.Pro301Leu) single nucleotide variant not provided [RCV003108938] Chr17:18119702 [GRCh38]
Chr17:18023016 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3316C>T (p.Arg1106Trp) single nucleotide variant not provided [RCV001756997] Chr17:18122116 [GRCh38]
Chr17:18025430 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.836A>T (p.Tyr279Phe) single nucleotide variant not provided [RCV001755072] Chr17:18119636 [GRCh38]
Chr17:18022950 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001822949]|Inborn genetic diseases [RCV002568268]|not provided [RCV001732204] Chr17:18120817 [GRCh38]
Chr17:18024131 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.1990C>A (p.Pro664Thr) single nucleotide variant not provided [RCV001732581] Chr17:18120790 [GRCh38]
Chr17:18024104 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4606C>T (p.Arg1536Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001784694] Chr17:18136426 [GRCh38]
Chr17:18039740 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.855dup (p.Pro286fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV001784695] Chr17:18119654..18119655 [GRCh38]
Chr17:18022968..18022969 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3928T>G (p.Cys1310Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002251162] Chr17:18126852 [GRCh38]
Chr17:18030166 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9703G>A (p.Val3235Met) single nucleotide variant not provided [RCV002254119] Chr17:18163754 [GRCh38]
Chr17:18067068 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9517G>A (p.Gly3173Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002251184] Chr17:18161447 [GRCh38]
Chr17:18064761 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5354T>A (p.Met1785Lys) single nucleotide variant not provided [RCV001758367] Chr17:18140659 [GRCh38]
Chr17:18043973 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9815G>A (p.Arg3272His) single nucleotide variant not provided [RCV001763785] Chr17:18166388 [GRCh38]
Chr17:18069702 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6502C>T (p.Leu2168Phe) single nucleotide variant not provided [RCV001763894] Chr17:18146100 [GRCh38]
Chr17:18049414 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5597T>C (p.Leu1866Pro) single nucleotide variant not provided [RCV001770609] Chr17:18141718 [GRCh38]
Chr17:18045032 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1425C>T (p.Arg475=) single nucleotide variant not provided [RCV001770887] Chr17:18120225 [GRCh38]
Chr17:18023539 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10324del (p.Leu3442fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001782478] Chr17:18172263 [GRCh38]
Chr17:18075577 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.5557C>G (p.His1853Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001771831] Chr17:18141678 [GRCh38]
Chr17:18044992 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5699A>G (p.His1900Arg) single nucleotide variant not provided [RCV001771234] Chr17:18142128 [GRCh38]
Chr17:18045442 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5929_5930inv (p.Cys1977His) inversion not provided [RCV001733322] Chr17:18143584..18143585 [GRCh38]
Chr17:18046898..18046899 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3952G>A (p.Gly1318Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002506792]|not provided [RCV001763632] Chr17:18127085 [GRCh38]
Chr17:18030399 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3340T>C (p.Phe1114Leu) single nucleotide variant not provided [RCV003237999] Chr17:18122140 [GRCh38]
Chr17:18025454 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5502G>A (p.Val1834=) single nucleotide variant not provided [RCV001786682] Chr17:18141114 [GRCh38]
Chr17:18044428 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4622C>T (p.Thr1541Met) single nucleotide variant not provided [RCV001765725] Chr17:18136442 [GRCh38]
Chr17:18039756 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4152C>G (p.Ile1384Met) single nucleotide variant not provided [RCV001767662] Chr17:18131477 [GRCh38]
Chr17:18034791 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.530G>T (p.Gly177Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002477991]|not provided [RCV001773218] Chr17:18119330 [GRCh38]
Chr17:18022644 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4016G>T (p.Arg1339Leu) single nucleotide variant not provided [RCV001764843] Chr17:18127149 [GRCh38]
Chr17:18030463 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001780438] Chr17:18161330 [GRCh38]
Chr17:18064644 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7499C>T (p.Pro2500Leu) single nucleotide variant not provided [RCV001774122] Chr17:18151135 [GRCh38]
Chr17:18054449 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8549G>C (p.Arg2850Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001810313]|not provided [RCV001752584] Chr17:18156284 [GRCh38]
Chr17:18059598 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.560T>G (p.Leu187Arg) single nucleotide variant not provided [RCV001769426] Chr17:18119360 [GRCh38]
Chr17:18022674 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1849A>C (p.Met617Leu) single nucleotide variant Inborn genetic diseases [RCV002540513]|not provided [RCV001769427] Chr17:18120649 [GRCh38]
Chr17:18023963 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1967A>G (p.His656Arg) single nucleotide variant Inborn genetic diseases [RCV002538783]|not provided [RCV001768501] Chr17:18120767 [GRCh38]
Chr17:18024081 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6055C>A (p.Leu2019Met) single nucleotide variant not provided [RCV001765758] Chr17:18143878 [GRCh38]
Chr17:18047192 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.395C>T (p.Thr132Met) single nucleotide variant Inborn genetic diseases [RCV002544013]|not provided [RCV001770886] Chr17:18119195 [GRCh38]
Chr17:18022509 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4526T>C (p.Ile1509Thr) single nucleotide variant not provided [RCV001774500] Chr17:18135754 [GRCh38]
Chr17:18039068 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9698T>G (p.Leu3233Arg) single nucleotide variant not provided [RCV001766872] Chr17:18163749 [GRCh38]
Chr17:18067063 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3897C>A (p.Phe1299Leu) single nucleotide variant not provided [RCV001754174] Chr17:18126821 [GRCh38]
Chr17:18030135 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3869A>G (p.His1290Arg) single nucleotide variant not provided [RCV001771233] Chr17:18126793 [GRCh38]
Chr17:18030107 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3620T>C (p.Ile1207Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001733686] Chr17:18124493 [GRCh38]
Chr17:18027807 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8224+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001782479] Chr17:18154756 [GRCh38]
Chr17:18058070 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.7655-16C>T single nucleotide variant not provided [RCV001799884] Chr17:18151379 [GRCh38]
Chr17:18054693 [GRCh37]
Chr17:17p11.2
benign|likely benign
NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001803652] Chr17:18140566 [GRCh38]
Chr17:18043880 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7352T>C (p.Leu2451Ser) single nucleotide variant not provided [RCV001732901] Chr17:18150722 [GRCh38]
Chr17:18054036 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001784696] Chr17:18138238 [GRCh38]
Chr17:18041552 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5141A>T (p.Lys1714Met) single nucleotide variant not provided [RCV001757896] Chr17:18139541 [GRCh38]
Chr17:18042855 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9116G>A (p.Arg3039Gln) single nucleotide variant not provided [RCV001797315] Chr17:18158957 [GRCh38]
Chr17:18062271 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3 copy number gain Potocki-Lupski syndrome [RCV001801179] Chr17:16829153..20361747 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10263C>G (p.Ile3421Met) single nucleotide variant not provided [RCV001756661] Chr17:18172203 [GRCh38]
Chr17:18075517 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6106G>A (p.Glu2036Lys) single nucleotide variant not provided [RCV001757055] Chr17:18143929 [GRCh38]
Chr17:18047243 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6847G>A (p.Val2283Met) single nucleotide variant not provided [RCV001758294] Chr17:18148843 [GRCh38]
Chr17:18052157 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4142+1G>T single nucleotide variant Ear malformation [RCV001814366] Chr17:18131343 [GRCh38]
Chr17:18034657 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9355A>T (p.Lys3119Ter) single nucleotide variant Ear malformation [RCV001814490] Chr17:18159986 [GRCh38]
Chr17:18063300 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10080C>T (p.Ser3360=) single nucleotide variant not provided [RCV001806276] Chr17:18167721 [GRCh38]
Chr17:18071035 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9023C>T (p.Pro3008Leu) single nucleotide variant not provided [RCV001806606] Chr17:18158578 [GRCh38]
Chr17:18061892 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.6273+207_6273+208insA insertion not provided [RCV001810388] Chr17:18144799..18144800 [GRCh38]
Chr17:18048113..18048114 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9523G>A (p.Ala3175Thr) single nucleotide variant not provided [RCV001806644] Chr17:18162590 [GRCh38]
Chr17:18065904 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His) single nucleotide variant Ear malformation [RCV001814405] Chr17:18142239 [GRCh38]
Chr17:18045553 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.3867-1G>A single nucleotide variant Ear malformation [RCV001814406] Chr17:18126790 [GRCh38]
Chr17:18030104 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.806C>T (p.Pro269Leu) single nucleotide variant not provided [RCV001806275] Chr17:18119606 [GRCh38]
Chr17:18022920 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8147A>G (p.Gln2716Arg) single nucleotide variant not provided [RCV001988433] Chr17:18154189 [GRCh38]
Chr17:18057503 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.9888_9898delinsTCGGGGGG (p.Leu3297_Gln3300delinsArgGlyGlu) indel Autosomal recessive nonsyndromic hearing loss 3 [RCV001822961] Chr17:18166461..18166471 [GRCh38]
Chr17:18069775..18069785 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001823229] Chr17:18173849..18173853 [GRCh38]
Chr17:18077163..18077167 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4195A>T (p.Ile1399Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823275] Chr17:18131520 [GRCh38]
Chr17:18034834 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5193_5194insACAG (p.Val1732fs) insertion Autosomal recessive nonsyndromic hearing loss 3 [RCV001823286] Chr17:18139593..18139594 [GRCh38]
Chr17:18042907..18042908 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10207_10208insCCACC (p.Gln3403fs) microsatellite not provided [RCV002041358] Chr17:18171760..18171761 [GRCh38]
Chr17:18075074..18075075 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9941del (p.Tyr3314fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001823257] Chr17:18166514 [GRCh38]
Chr17:18069828 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4482+2T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823223] Chr17:18133388 [GRCh38]
Chr17:18036702 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.7654+1G>C single nucleotide variant not provided [RCV001837648] Chr17:18151291 [GRCh38]
Chr17:18054605 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.23A>T (p.Glu8Val) single nucleotide variant not provided [RCV001929755] Chr17:18118823 [GRCh38]
Chr17:18022137 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.352_360del (p.Gly118_Leu120del) deletion not provided [RCV002004115] Chr17:18119152..18119160 [GRCh38]
Chr17:18022466..18022474 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3602G>A (p.Arg1201Gln) single nucleotide variant not provided [RCV001927145] Chr17:18122402 [GRCh38]
Chr17:18025716 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9989C>T (p.Pro3330Leu) single nucleotide variant not provided [RCV002024849] Chr17:18167630 [GRCh38]
Chr17:18070944 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4779+5G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002491958]|not provided [RCV001948233] Chr17:18136691 [GRCh38]
Chr17:18040005 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7998G>C (p.Glu2666Asp) single nucleotide variant not provided [RCV001950100] Chr17:18153806 [GRCh38]
Chr17:18057120 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.104G>C (p.Arg35Pro) single nucleotide variant not provided [RCV001983828] Chr17:18118904 [GRCh38]
Chr17:18022218 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6581G>A (p.Arg2194Gln) single nucleotide variant not provided [RCV002042223] Chr17:18148100 [GRCh38]
Chr17:18051414 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.112A>C (p.Met38Leu) single nucleotide variant not provided [RCV001915146] Chr17:18118912 [GRCh38]
Chr17:18022226 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4178T>C (p.Leu1393Pro) single nucleotide variant Inborn genetic diseases [RCV002562228]|not provided [RCV001950484] Chr17:18131503 [GRCh38]
Chr17:18034817 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8354C>G (p.Thr2785Ser) single nucleotide variant not provided [RCV001890974] Chr17:18155327 [GRCh38]
Chr17:18058641 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9823A>G (p.Ile3275Val) single nucleotide variant not provided [RCV001986111] Chr17:18166396 [GRCh38]
Chr17:18069710 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3092C>T (p.Thr1031Ile) single nucleotide variant Inborn genetic diseases [RCV003375460]|not provided [RCV001964914] Chr17:18121892 [GRCh38]
Chr17:18025206 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.3435del (p.Lys1146fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001822955] Chr17:18122232 [GRCh38]
Chr17:18025546 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823233] Chr17:18135766 [GRCh38]
Chr17:18039080 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.1661del (p.Gly554fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001823292] Chr17:18120458 [GRCh38]
Chr17:18023772 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9530C>T (p.Ala3177Val) single nucleotide variant not provided [RCV002002932] Chr17:18162597 [GRCh38]
Chr17:18065911 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9190G>C (p.Asp3064His) single nucleotide variant not provided [RCV001847405] Chr17:18159308 [GRCh38]
Chr17:18062622 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.7245C>T (p.Arg2415=) single nucleotide variant not provided [RCV001966290] Chr17:18150461 [GRCh38]
Chr17:18053775 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002051752] Chr17:18142765 [GRCh38]
Chr17:18046079 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.2863A>G (p.Arg955Gly) single nucleotide variant not provided [RCV002004268] Chr17:18121663 [GRCh38]
Chr17:18024977 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9690+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002051749] Chr17:18163322 [GRCh38]
Chr17:18066636 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10556G>A (p.Arg3519Gln) single nucleotide variant not provided [RCV001871189] Chr17:18178833 [GRCh38]
Chr17:18082147 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4534G>A (p.Val1512Met) single nucleotide variant not provided [RCV002052318] Chr17:18135762 [GRCh38]
Chr17:18039076 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7871T>A (p.Leu2624Gln) single nucleotide variant not provided [RCV002007851] Chr17:18151929 [GRCh38]
Chr17:18055243 [GRCh37]
Chr17:17p11.2
uncertain significance
NC_000017.10:g.(?_16842861)_(18218092_?)dup duplication Birt-Hogg-Dube syndrome [RCV003120781]|not provided [RCV001949508] Chr17:16842861..18218092 [GRCh37]
Chr17:17p11.2
pathogenic|uncertain significance|no classifications from unflagged records
NM_016239.4(MYO15A):c.3358C>G (p.Arg1120Gly) single nucleotide variant not provided [RCV002004967] Chr17:18122158 [GRCh38]
Chr17:18025472 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.659G>A (p.Arg220His) single nucleotide variant not provided [RCV002003973] Chr17:18119459 [GRCh38]
Chr17:18022773 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5683G>A (p.Glu1895Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002051730] Chr17:18142112 [GRCh38]
Chr17:18045426 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3239G>A (p.Arg1080His) single nucleotide variant not provided [RCV001914094] Chr17:18122039 [GRCh38]
Chr17:18025353 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.7711_7712dup (p.Gln2571fs) microsatellite Autosomal recessive nonsyndromic hearing loss 3 [RCV001822900] Chr17:18151448..18151449 [GRCh38]
Chr17:18054762..18054763 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001822950] Chr17:18157033 [GRCh38]
Chr17:18060347 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1168G>T (p.Glu390Ter) single nucleotide variant not provided [RCV001895123] Chr17:18119968 [GRCh38]
Chr17:18023282 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9310G>A (p.Gly3104Arg) single nucleotide variant not provided [RCV001890297] Chr17:18159941 [GRCh38]
Chr17:18063255 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10183C>T (p.Leu3395Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001822951] Chr17:18171738 [GRCh38]
Chr17:18075052 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10538_10544del (p.Leu3513fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001823226] Chr17:18178812..18178818 [GRCh38]
Chr17:18082126..18082132 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4596+2_4596+3del deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001823228] Chr17:18135825..18135826 [GRCh38]
Chr17:18039139..18039140 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3693-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823232] Chr17:18125166 [GRCh38]
Chr17:18028480 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9820T>C (p.Tyr3274His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823242] Chr17:18166393 [GRCh38]
Chr17:18069707 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10350+6T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823244] Chr17:18172296 [GRCh38]
Chr17:18075610 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5095T>G (p.Phe1699Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823248] Chr17:18138898 [GRCh38]
Chr17:18042212 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823267] Chr17:18143795 [GRCh38]
Chr17:18047109 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.5111A>G (p.Tyr1704Cys) single nucleotide variant not provided [RCV001894435] Chr17:18138914 [GRCh38]
Chr17:18042228 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6821G>T (p.Trp2274Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002503370]|not provided [RCV002044491] Chr17:18148817 [GRCh38]
Chr17:18052131 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10360_10362del (p.Val3454del) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001822902] Chr17:18173788..18173790 [GRCh38]
Chr17:18077102..18077104 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.4190C>A (p.Ser1397Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001822960] Chr17:18131515 [GRCh38]
Chr17:18034829 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6356C>T (p.Ala2119Val) single nucleotide variant Inborn genetic diseases [RCV002542727]|not provided [RCV001823387] Chr17:18145954 [GRCh38]
Chr17:18049268 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2834G>A (p.Gly945Glu) single nucleotide variant not provided [RCV001823397] Chr17:18121634 [GRCh38]
Chr17:18024948 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9029A>T (p.Tyr3010Phe) single nucleotide variant not provided [RCV001894348] Chr17:18158584 [GRCh38]
Chr17:18061898 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.2456C>G (p.Ser819Trp) single nucleotide variant not provided [RCV001912412] Chr17:18121256 [GRCh38]
Chr17:18024570 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.350_363del (p.Tyr117fs) deletion not provided [RCV001892002] Chr17:18119150..18119163 [GRCh38]
Chr17:18022464..18022477 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4228C>T (p.His1410Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002052242] Chr17:18132474 [GRCh38]
Chr17:18035788 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7606C>T (p.Pro2536Ser) single nucleotide variant not provided [RCV001908417] Chr17:18151242 [GRCh38]
Chr17:18054556 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10193A>T (p.His3398Leu) single nucleotide variant not provided [RCV002043222] Chr17:18171748 [GRCh38]
Chr17:18075062 [GRCh37]
Chr17:17p11.2
uncertain significance
NC_000017.10:g.(?_16842861)_(19578885_?)del deletion Immunodeficiency, common variable, 2 [RCV002049406]|Joubert syndrome [RCV002047402] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5194G>C (p.Val1732Leu) single nucleotide variant not provided [RCV001843618] Chr17:18139594 [GRCh38]
Chr17:18042908 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001822901] Chr17:18143727 [GRCh38]
Chr17:18047041 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4461C>A (p.Asn1487Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823214] Chr17:18133365 [GRCh38]
Chr17:18036679 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3904del (p.Met1302fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001823246] Chr17:18126825 [GRCh38]
Chr17:18030139 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8474T>C (p.Leu2825Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823247] Chr17:18156209 [GRCh38]
Chr17:18059523 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7654+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823268] Chr17:18151291 [GRCh38]
Chr17:18054605 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs) microsatellite Autosomal recessive nonsyndromic hearing loss 3 [RCV001823215] Chr17:18148065..18148066 [GRCh38]
Chr17:18051379..18051380 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.6898A>T (p.Lys2300Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823237] Chr17:18148894 [GRCh38]
Chr17:18052208 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.212del (p.Lys71fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV001823256] Chr17:18119011 [GRCh38]
Chr17:18022325 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2266_2272dup (p.Pro758fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV001823264] Chr17:18121064..18121065 [GRCh38]
Chr17:18024378..18024379 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9482A>C (p.Gln3161Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV001823274] Chr17:18161412 [GRCh38]
Chr17:18064726 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3848C>T (p.Ala1283Val) single nucleotide variant not provided [RCV001887384] Chr17:18126438 [GRCh38]
Chr17:18029752 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5804G>A (p.Arg1935Gln) single nucleotide variant not provided [RCV001990964] Chr17:18142233 [GRCh38]
Chr17:18045547 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7967-2A>T single nucleotide variant not provided [RCV002037626] Chr17:18153773 [GRCh38]
Chr17:18057087 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2557C>A (p.Leu853Ile) single nucleotide variant Inborn genetic diseases [RCV003355684]|not provided [RCV001939316] Chr17:18121357 [GRCh38]
Chr17:18024671 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2178C>G (p.Ala726=) single nucleotide variant not provided [RCV002014799] Chr17:18120978 [GRCh38]
Chr17:18024292 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.8113A>C (p.Ser2705Arg) single nucleotide variant not provided [RCV001981205] Chr17:18154155 [GRCh38]
Chr17:18057469 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2987C>G (p.Pro996Arg) single nucleotide variant not provided [RCV001887848] Chr17:18121787 [GRCh38]
Chr17:18025101 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.175T>A (p.Phe59Ile) single nucleotide variant not provided [RCV001994437] Chr17:18118975 [GRCh38]
Chr17:18022289 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3007A>C (p.Lys1003Gln) single nucleotide variant not provided [RCV002038314] Chr17:18121807 [GRCh38]
Chr17:18025121 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.343dup (p.Arg115fs) duplication not provided [RCV001939510] Chr17:18119141..18119142 [GRCh38]
Chr17:18022455..18022456 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5473G>A (p.Val1825Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002479654]|not provided [RCV002000715] Chr17:18141085 [GRCh38]
Chr17:18044399 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.5260C>T (p.Arg1754Cys) single nucleotide variant not provided [RCV001994917] Chr17:18140565 [GRCh38]
Chr17:18043879 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10575C>G (p.Ser3525Arg) single nucleotide variant not provided [RCV001956955] Chr17:18178852 [GRCh38]
Chr17:18082166 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003155451]|not provided [RCV001977995] Chr17:18153888 [GRCh38]
Chr17:18057202 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.6113G>A (p.Arg2038His) single nucleotide variant not provided [RCV001932733] Chr17:18143936 [GRCh38]
Chr17:18047250 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3308G>C (p.Gly1103Ala) single nucleotide variant not provided [RCV001930239] Chr17:18122108 [GRCh38]
Chr17:18025422 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1024T>C (p.Tyr342His) single nucleotide variant not provided [RCV001930430] Chr17:18119824 [GRCh38]
Chr17:18023138 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1423C>T (p.Arg475Cys) single nucleotide variant not provided [RCV001879634] Chr17:18120223 [GRCh38]
Chr17:18023537 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4232TCT[1] (p.Phe1412del) microsatellite not provided [RCV001917442] Chr17:18132478..18132480 [GRCh38]
Chr17:18035792..18035794 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5830C>T (p.Arg1944Cys) single nucleotide variant not provided [RCV001932033] Chr17:18142760 [GRCh38]
Chr17:18046074 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2509G>A (p.Gly837Ser) single nucleotide variant not provided [RCV001882068] Chr17:18121309 [GRCh38]
Chr17:18024623 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5730dup (p.Arg1911fs) duplication not provided [RCV001922275] Chr17:18142158..18142159 [GRCh38]
Chr17:18045472..18045473 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9163C>A (p.Leu3055Ile) single nucleotide variant not provided [RCV001960825] Chr17:18159281 [GRCh38]
Chr17:18062595 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4723G>A (p.Val1575Met) single nucleotide variant not provided [RCV001940754] Chr17:18136630 [GRCh38]
Chr17:18039944 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6765-2A>G single nucleotide variant not provided [RCV001995551] Chr17:18148759 [GRCh38]
Chr17:18052073 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8363del (p.Gln2788fs) deletion not provided [RCV001939610] Chr17:18155336 [GRCh38]
Chr17:18058650 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1114T>C (p.Tyr372His) single nucleotide variant not provided [RCV001933770] Chr17:18119914 [GRCh38]
Chr17:18023228 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2374T>A (p.Leu792Met) single nucleotide variant not provided [RCV001916860] Chr17:18121174 [GRCh38]
Chr17:18024488 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2368_2378del (p.Ser790fs) deletion not provided [RCV001904732] Chr17:18121166..18121176 [GRCh38]
Chr17:18024480..18024490 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9542A>G (p.Asn3181Ser) single nucleotide variant not provided [RCV002014733] Chr17:18162609 [GRCh38]
Chr17:18065923 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3127_3135del (p.Asp1043_Thr1045del) deletion not provided [RCV002013486] Chr17:18121927..18121935 [GRCh38]
Chr17:18025241..18025249 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9115C>T (p.Arg3039Trp) single nucleotide variant Inborn genetic diseases [RCV002625393]|not provided [RCV002019201] Chr17:18158956 [GRCh38]
Chr17:18062270 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.3551C>A (p.Ala1184Asp) single nucleotide variant not provided [RCV002029318] Chr17:18122351 [GRCh38]
Chr17:18025665 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4597-2A>G single nucleotide variant not provided [RCV001996861] Chr17:18136415 [GRCh38]
Chr17:18039729 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9109G>T (p.Glu3037Ter) single nucleotide variant not provided [RCV001938084] Chr17:18158950 [GRCh38]
Chr17:18062264 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5065T>C (p.Tyr1689His) single nucleotide variant not provided [RCV001926075] Chr17:18138868 [GRCh38]
Chr17:18042182 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+3A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003134303]|not provided [RCV001960764] Chr17:18130813 [GRCh38]
Chr17:18034127 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10253T>C (p.Phe3418Ser) single nucleotide variant not provided [RCV001996800] Chr17:18172193 [GRCh38]
Chr17:18075507 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1374C>G (p.Phe458Leu) single nucleotide variant not provided [RCV001975672] Chr17:18120174 [GRCh38]
Chr17:18023488 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6995C>A (p.Ser2332Tyr) single nucleotide variant not provided [RCV002009753] Chr17:18149254 [GRCh38]
Chr17:18052568 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9469dup (p.Thr3157fs) duplication not provided [RCV001915804] Chr17:18161398..18161399 [GRCh38]
Chr17:18064712..18064713 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6291C>T (p.Gly2097=) single nucleotide variant not provided [RCV001979046] Chr17:18145889 [GRCh38]
Chr17:18049203 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2112G>C (p.Trp704Cys) single nucleotide variant Inborn genetic diseases [RCV003264323]|not provided [RCV001958401] Chr17:18120912 [GRCh38]
Chr17:18024226 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3836A>G (p.Tyr1279Cys) single nucleotide variant not provided [RCV001882954] Chr17:18126426 [GRCh38]
Chr17:18029740 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.201_202del (p.Gln68fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002224982] Chr17:18118998..18118999 [GRCh38]
Chr17:18022312..18022313 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3971C>A (p.Ala1324Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224991] Chr17:18127104 [GRCh38]
Chr17:18030418 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1 copy number loss not provided [RCV002211424] Chr17:16664739..20217378 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5134-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225001] Chr17:18139533 [GRCh38]
Chr17:18042847 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.596C>G (p.Ser199Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225009] Chr17:18119396 [GRCh38]
Chr17:18022710 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225011] Chr17:18145995 [GRCh38]
Chr17:18049309 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225014]|not provided [RCV003227038] Chr17:18148130 [GRCh38]
Chr17:18051444 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225016] Chr17:18172231..18172245 [GRCh38]
Chr17:18075545..18075559 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8130dup (p.Asp2711Ter) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV002225026] Chr17:18154170..18154171 [GRCh38]
Chr17:18057484..18057485 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8828dup (p.Ser2945fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV002225039] Chr17:18157759..18157760 [GRCh38]
Chr17:18061073..18061074 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9358C>T (p.Gln3120Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225045] Chr17:18159989 [GRCh38]
Chr17:18063303 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9787+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225049] Chr17:18163839 [GRCh38]
Chr17:18067153 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7327+11C>T single nucleotide variant not provided [RCV002205786] Chr17:18150554 [GRCh38]
Chr17:18053868 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5650-16T>C single nucleotide variant not provided [RCV002074521] Chr17:18142063 [GRCh38]
Chr17:18045377 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5008-16C>G single nucleotide variant not provided [RCV002209609] Chr17:18138795 [GRCh38]
Chr17:18042109 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.4033-10G>T single nucleotide variant not provided [RCV002165672] Chr17:18130795 [GRCh38]
Chr17:18034109 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9942_9943delinsTGTGTG (p.Asn3315delinsValTer) indel Autosomal recessive nonsyndromic hearing loss 3 [RCV002224979] Chr17:18166515..18166516 [GRCh38]
Chr17:18069829..18069830 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1651G>A (p.Ala551Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224981] Chr17:18120451 [GRCh38]
Chr17:18023765 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.2958del (p.Arg987fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002224984] Chr17:18121757 [GRCh38]
Chr17:18025071 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5036G>A (p.Cys1679Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225000] Chr17:18138839 [GRCh38]
Chr17:18042153 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10350+2T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225025] Chr17:18172292 [GRCh38]
Chr17:18075606 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225033] Chr17:18155431 [GRCh38]
Chr17:18058745 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225041] Chr17:18157877 [GRCh38]
Chr17:18061191 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.9868A>G (p.Met3290Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225050] Chr17:18166441 [GRCh38]
Chr17:18069755 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3123del (p.Lys1042fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002224985] Chr17:18121918 [GRCh38]
Chr17:18025232 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3700C>T (p.Gln1234Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224988] Chr17:18125175 [GRCh38]
Chr17:18028489 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3829C>T (p.Gln1277Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224989] Chr17:18126419 [GRCh38]
Chr17:18029733 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5809C>G (p.Arg1937Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225007] Chr17:18142238 [GRCh38]
Chr17:18045552 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1101del (p.Tyr368fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225044] Chr17:18119899 [GRCh38]
Chr17:18023213 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.9223T>C (p.Phe3075Leu) single nucleotide variant not provided [RCV002211390] Chr17:18159341 [GRCh38]
Chr17:18062655 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+8GT[20] microsatellite not provided [RCV002124840] Chr17:18130818..18130831 [GRCh38]
Chr17:18034132..18034145 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.4597-17G>C single nucleotide variant not provided [RCV002091455] Chr17:18136400 [GRCh38]
Chr17:18039714 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10491+16A>G single nucleotide variant not provided [RCV002164864] Chr17:18173937 [GRCh38]
Chr17:18077251 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8795G>A (p.Arg2932Lys) single nucleotide variant not provided [RCV002087153] Chr17:18157728 [GRCh38]
Chr17:18061042 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4784T>C (p.Leu1595Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224998] Chr17:18137588 [GRCh38]
Chr17:18040902 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225004] Chr17:18141116 [GRCh38]
Chr17:18044430 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.5722_5725del (p.Thr1908fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225006] Chr17:18142148..18142151 [GRCh38]
Chr17:18045462..18045465 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6338T>A (p.Ile2113Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225010] Chr17:18145936 [GRCh38]
Chr17:18049250 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6510-1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225013] Chr17:18148028 [GRCh38]
Chr17:18051342 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225030] Chr17:18155209 [GRCh38]
Chr17:18058523 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225040] Chr17:18157761 [GRCh38]
Chr17:18061075 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.900del (p.Pro301fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225043] Chr17:18119700 [GRCh38]
Chr17:18023014 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9534C>A (p.Cys3178Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225048] Chr17:18162601 [GRCh38]
Chr17:18065915 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3866+9C>T single nucleotide variant not provided [RCV002206958] Chr17:18126465 [GRCh38]
Chr17:18029779 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10129dup (p.Ala3377fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV002224978] Chr17:18171682..18171683 [GRCh38]
Chr17:18074996..18074997 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.10177C>T (p.Gln3393Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224987] Chr17:18171732 [GRCh38]
Chr17:18075046 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4037A>G (p.Lys1346Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224992] Chr17:18130809 [GRCh38]
Chr17:18034123 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4322G>T (p.Gly1441Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224993] Chr17:18133226 [GRCh38]
Chr17:18036540 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5360G>A (p.Arg1787Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225002] Chr17:18140665 [GRCh38]
Chr17:18043979 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5362T>G (p.Cys1788Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225003] Chr17:18140788 [GRCh38]
Chr17:18044102 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.5507T>C (p.Leu1836Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225005] Chr17:18141119 [GRCh38]
Chr17:18044433 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10252TTC[2] (p.Phe3420del) microsatellite Autosomal recessive nonsyndromic hearing loss 3 [RCV002225008] Chr17:18172191..18172193 [GRCh38]
Chr17:18075505..18075507 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.735C>G (p.Tyr245Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225021] Chr17:18119535 [GRCh38]
Chr17:18022849 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7523del (p.Pro2508fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225022] Chr17:18151155 [GRCh38]
Chr17:18054469 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225029] Chr17:18155168..18155191 [GRCh38]
Chr17:18058482..18058505 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8583del (p.Phe2861fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225035] Chr17:18156318 [GRCh38]
Chr17:18059632 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8976dup (p.Val2993fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV002225042] Chr17:18158530..18158531 [GRCh38]
Chr17:18061844..18061845 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9532T>C (p.Cys3178Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225047] Chr17:18162599 [GRCh38]
Chr17:18065913 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4430G>A (p.Arg1477His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224994]|Inborn genetic diseases [RCV002539841] Chr17:18133334 [GRCh38]
Chr17:18036648 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4676T>C (p.Leu1559Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224997] Chr17:18136583 [GRCh38]
Chr17:18039897 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4656-6dup duplication not provided [RCV002186204] Chr17:18136556..18136557 [GRCh38]
Chr17:18039870..18039871 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225012] Chr17:18146040 [GRCh38]
Chr17:18049354 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225019]|not provided [RCV002300572] Chr17:18148837 [GRCh38]
Chr17:18052151 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.8152del (p.Leu2718fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225027] Chr17:18154682 [GRCh38]
Chr17:18057996 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8713+3_8713+6del deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225036] Chr17:18157066..18157069 [GRCh38]
Chr17:18060380..18060383 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8746GTG[1] (p.Val2917del) microsatellite Autosomal recessive nonsyndromic hearing loss 3 [RCV002225037] Chr17:18157187..18157189 [GRCh38]
Chr17:18060501..18060503 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6692-8C>T single nucleotide variant not provided [RCV002124409] Chr17:18148488 [GRCh38]
Chr17:18051802 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4207-18del deletion not provided [RCV002170976] Chr17:18132433 [GRCh38]
Chr17:18035747 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1898_1899delinsAG (p.Pro633Gln) indel not provided [RCV002210994] Chr17:18120698..18120699 [GRCh38]
Chr17:18024012..18024013 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4717G>A (p.Ala1573Thr) single nucleotide variant not provided [RCV002107829] Chr17:18136624 [GRCh38]
Chr17:18039938 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.773A>C (p.Glu258Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002481028]|not provided [RCV002211389] Chr17:18119573 [GRCh38]
Chr17:18022887 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10146C>T (p.Leu3382=) single nucleotide variant not provided [RCV002134576] Chr17:18171701 [GRCh38]
Chr17:18075015 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1464T>C (p.Phe488=) single nucleotide variant not provided [RCV002197491] Chr17:18120264 [GRCh38]
Chr17:18023578 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2257G>C (p.Ala753Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224983]|not provided [RCV002274202] Chr17:18121057 [GRCh38]
Chr17:18024371 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.4441T>C (p.Ser1481Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224995] Chr17:18133345 [GRCh38]
Chr17:18036659 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4567C>A (p.Leu1523Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224996] Chr17:18135795 [GRCh38]
Chr17:18039109 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2586G>A (p.Leu862=) single nucleotide variant not provided [RCV002079827] Chr17:18121386 [GRCh38]
Chr17:18024700 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2705C>T (p.Ala902Val) single nucleotide variant not provided [RCV002112760] Chr17:18121505 [GRCh38]
Chr17:18024819 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225017] Chr17:18148520 [GRCh38]
Chr17:18051834 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6956+9C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225020] Chr17:18148961 [GRCh38]
Chr17:18052275 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7698_7699del (p.Glu2567fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225023] Chr17:18151438..18151439 [GRCh38]
Chr17:18054752..18054753 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7771del (p.Arg2591fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225024] Chr17:18151510 [GRCh38]
Chr17:18054824 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8324G>T (p.Arg2775Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225031] Chr17:18155209 [GRCh38]
Chr17:18058523 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8459G>C (p.Ser2820Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225034] Chr17:18155432 [GRCh38]
Chr17:18058746 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9401G>C (p.Arg3134Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225046] Chr17:18161331 [GRCh38]
Chr17:18064645 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2409G>C (p.Thr803=) single nucleotide variant not provided [RCV002080579] Chr17:18121209 [GRCh38]
Chr17:18024523 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6560G>A (p.Arg2187His) single nucleotide variant not provided [RCV002113442] Chr17:18148079 [GRCh38]
Chr17:18051393 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8613C>T (p.Tyr2871=) single nucleotide variant not provided [RCV002128662] Chr17:18156965 [GRCh38]
Chr17:18060279 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9230-11C>A single nucleotide variant not provided [RCV002096743] Chr17:18159595 [GRCh38]
Chr17:18062909 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6046+19G>C single nucleotide variant not provided [RCV002150521] Chr17:18143815 [GRCh38]
Chr17:18047129 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1201del (p.Tyr401fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002224980] Chr17:18119997 [GRCh38]
Chr17:18023311 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3141del (p.Lys1048fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002224986] Chr17:18121936 [GRCh38]
Chr17:18025250 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3926A>T (p.Gln1309Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224990] Chr17:18126850 [GRCh38]
Chr17:18030164 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4817A>G (p.Asn1606Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002224999] Chr17:18137621 [GRCh38]
Chr17:18040935 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6616T>A (p.Leu2206Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225015] Chr17:18148135 [GRCh38]
Chr17:18051449 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6764+1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225018] Chr17:18148569 [GRCh38]
Chr17:18051883 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs) microsatellite Autosomal recessive nonsyndromic hearing loss 3 [RCV002225028] Chr17:18155125..18155126 [GRCh38]
Chr17:18058439..18058440 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8362C>T (p.Gln2788Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002225032] Chr17:18155335 [GRCh38]
Chr17:18058649 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002225038] Chr17:18157724 [GRCh38]
Chr17:18061038 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8088+19G>A single nucleotide variant not provided [RCV002126494] Chr17:18153915 [GRCh38]
Chr17:18057229 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4326G>A (p.Gly1442=) single nucleotide variant not provided [RCV002170565] Chr17:18133230 [GRCh38]
Chr17:18036544 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1875C>G (p.Pro625=) single nucleotide variant not provided [RCV002133337] Chr17:18120675 [GRCh38]
Chr17:18023989 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5134-10C>T single nucleotide variant not provided [RCV002150736] Chr17:18139524 [GRCh38]
Chr17:18042838 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10053C>T (p.Arg3351=) single nucleotide variant not provided [RCV002114167] Chr17:18167694 [GRCh38]
Chr17:18071008 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4207-9A>G single nucleotide variant not provided [RCV002146898] Chr17:18132444 [GRCh38]
Chr17:18035758 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+8GT[19] microsatellite not provided [RCV002077884] Chr17:18130818..18130833 [GRCh38]
Chr17:18034132..18034147 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p11.2(chr17:16651292-20286898) copy number loss Smith-Magenis syndrome [RCV002280651] Chr17:16651292..20286898 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8967+7C>G single nucleotide variant not provided [RCV002113865] Chr17:18157907 [GRCh38]
Chr17:18061221 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7966+22dup duplication not provided [RCV002181094] Chr17:18152203..18152204 [GRCh38]
Chr17:18055517..18055518 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6600G>A (p.Ser2200=) single nucleotide variant not provided [RCV002217187] Chr17:18148119 [GRCh38]
Chr17:18051433 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6274-17C>T single nucleotide variant not provided [RCV002138033] Chr17:18145855 [GRCh38]
Chr17:18049169 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8925G>A (p.Val2975=) single nucleotide variant not provided [RCV002202620] Chr17:18157858 [GRCh38]
Chr17:18061172 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.959C>G (p.Ser320Trp) single nucleotide variant Inborn genetic diseases [RCV003081035]|not provided [RCV002160582] Chr17:18119759 [GRCh38]
Chr17:18023073 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.8077C>T (p.Leu2693=) single nucleotide variant not provided [RCV002158839] Chr17:18153885 [GRCh38]
Chr17:18057199 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9304-16C>T single nucleotide variant not provided [RCV002121551] Chr17:18159919 [GRCh38]
Chr17:18063233 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+8GT[16] microsatellite not provided [RCV002143482] Chr17:18130818..18130839 [GRCh38]
Chr17:18034132..18034153 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6463C>T (p.Leu2155Phe) single nucleotide variant not provided [RCV002251620] Chr17:18146061 [GRCh38]
Chr17:18049375 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3942-7C>T single nucleotide variant not provided [RCV002175885] Chr17:18127068 [GRCh38]
Chr17:18030382 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6768G>T (p.Gly2256=) single nucleotide variant not provided [RCV002183225] Chr17:18148764 [GRCh38]
Chr17:18052078 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2385G>A (p.Pro795=) single nucleotide variant not provided [RCV002100978] Chr17:18121185 [GRCh38]
Chr17:18024499 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7787+16G>A single nucleotide variant not provided [RCV002176399] Chr17:18151543 [GRCh38]
Chr17:18054857 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1467G>A (p.Gly489=) single nucleotide variant not provided [RCV002140132] Chr17:18120267 [GRCh38]
Chr17:18023581 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+17T>C single nucleotide variant not provided [RCV002123999] Chr17:18130827 [GRCh38]
Chr17:18034141 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+19T>C single nucleotide variant not provided [RCV002124000] Chr17:18130829 [GRCh38]
Chr17:18034143 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5134-14G>T single nucleotide variant not provided [RCV002143584] Chr17:18139520 [GRCh38]
Chr17:18042834 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8460-14G>A single nucleotide variant not provided [RCV002140231] Chr17:18156181 [GRCh38]
Chr17:18059495 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.117C>A (p.Gly39=) single nucleotide variant not provided [RCV002158882] Chr17:18118917 [GRCh38]
Chr17:18022231 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3910G>A (p.Asp1304Asn) single nucleotide variant not provided [RCV002220587] Chr17:18126834 [GRCh38]
Chr17:18030148 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6765-15G>A single nucleotide variant not provided [RCV002183149] Chr17:18148746 [GRCh38]
Chr17:18052060 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.594G>A (p.Ala198=) single nucleotide variant not provided [RCV002141877] Chr17:18119394 [GRCh38]
Chr17:18022708 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7328-19T>C single nucleotide variant not provided [RCV002155263] Chr17:18150679 [GRCh38]
Chr17:18053993 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8910_8939del (p.Val2971_Ala2980del) deletion not provided [RCV002222794] Chr17:18157835..18157864 [GRCh38]
Chr17:18061149..18061178 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7623_7624insA (p.Leu2542fs) insertion not provided [RCV003118214] Chr17:18151259..18151260 [GRCh38]
Chr17:18054573..18054574 [GRCh37]
Chr17:17p11.2
pathogenic
NC_000017.10:g.(?_16842861)_(19578885_?)dup duplication Familial aplasia of the vermis [RCV003116613]|Immunodeficiency, common variable, 2 [RCV003116614] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9876G>T (p.Trp3292Cys) single nucleotide variant not provided [RCV003112357] Chr17:18166449 [GRCh38]
Chr17:18069763 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8824C>T (p.Arg2942Cys) single nucleotide variant not provided [RCV003121108] Chr17:18157757 [GRCh38]
Chr17:18061071 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1573G>A (p.Val525Met) single nucleotide variant Inborn genetic diseases [RCV003253335] Chr17:18120373 [GRCh38]
Chr17:18023687 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV003128283] Chr17:18150524..18150525 [GRCh38]
Chr17:18053838..18053839 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.3346G>C (p.Val1116Leu) single nucleotide variant not provided [RCV003156536] Chr17:18122146 [GRCh38]
Chr17:18025460 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002251199] Chr17:18120003..18120022 [GRCh38]
Chr17:18023317..18023336 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.7472A>G (p.Glu2491Gly) single nucleotide variant not provided [RCV002272109] Chr17:18150912 [GRCh38]
Chr17:18054226 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1648G>A (p.Gly550Ser) single nucleotide variant not provided [RCV003149246] Chr17:18120448 [GRCh38]
Chr17:18023762 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10475dup (p.Leu3493fs) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV002251228] Chr17:18173904..18173905 [GRCh38]
Chr17:18077218..18077219 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1210G>A (p.Glu404Lys) single nucleotide variant not provided [RCV002255747] Chr17:18120010 [GRCh38]
Chr17:18023324 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8968-1G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002505896]|not provided [RCV002254059] Chr17:18158522 [GRCh38]
Chr17:18061836 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8335G>A (p.Ala2779Thr) single nucleotide variant not provided [RCV003237142] Chr17:18155220 [GRCh38]
Chr17:18058534 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:17579860-18469185) copy number gain Potocki-Lupski syndrome [RCV002280640] Chr17:17579860..18469185 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1281C>A (p.His427Gln) single nucleotide variant not provided [RCV002273634] Chr17:18120081 [GRCh38]
Chr17:18023395 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7212G>A (p.Ala2404=) single nucleotide variant not provided [RCV002265099] Chr17:18149580 [GRCh38]
Chr17:18052894 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8428G>A (p.Gly2810Ser) single nucleotide variant not provided [RCV002260756] Chr17:18155401 [GRCh38]
Chr17:18058715 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7327+5G>A single nucleotide variant not provided [RCV002267376] Chr17:18150548 [GRCh38]
Chr17:18053862 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3640C>T (p.Arg1214Trp) single nucleotide variant not provided [RCV002288121] Chr17:18124513 [GRCh38]
Chr17:18027827 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6046+6_6046+7insAAGCACCAGGCGGGT insertion not provided [RCV002287152] Chr17:18143798..18143799 [GRCh38]
Chr17:18047112..18047113 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6530G>A (p.Arg2177Gln) single nucleotide variant not provided [RCV002275765] Chr17:18148049 [GRCh38]
Chr17:18051363 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002281637] Chr17:18122274 [GRCh38]
Chr17:18025588 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8601+2T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002283897] Chr17:18156338 [GRCh38]
Chr17:18059652 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.7957C>A (p.Pro2653Thr) single nucleotide variant not provided [RCV002265295] Chr17:18152175 [GRCh38]
Chr17:18055489 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3 copy number gain See cases [RCV002292216] Chr17:16736709..20339460 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.648C>A (p.His216Gln) single nucleotide variant not provided [RCV002274590] Chr17:18119448 [GRCh38]
Chr17:18022762 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8620G>A (p.Ala2874Thr) single nucleotide variant not provided [RCV002287001] Chr17:18156972 [GRCh38]
Chr17:18060286 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4360G>T (p.Asp1454Tyr) single nucleotide variant not provided [RCV003232971] Chr17:18133264 [GRCh38]
Chr17:18036578 [GRCh37]
Chr17:17p11.2
uncertain significance
Single allele complex PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690] Chr17:14876984..22124952 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_016239.4(MYO15A):c.1913G>A (p.Ser638Asn) single nucleotide variant not provided [RCV002283225] Chr17:18120713 [GRCh38]
Chr17:18024027 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10425C>A (p.Tyr3475Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002287843] Chr17:18173855 [GRCh38]
Chr17:18077169 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7728C>G (p.Ile2576Met) single nucleotide variant not provided [RCV002293827] Chr17:18151468 [GRCh38]
Chr17:18054782 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.32C>A (p.Ala11Asp) single nucleotide variant not provided [RCV002281395] Chr17:18118832 [GRCh38]
Chr17:18022146 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.160C>T (p.Arg54Cys) single nucleotide variant not provided [RCV002287031] Chr17:18118960 [GRCh38]
Chr17:18022274 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2615G>C (p.Trp872Ser) single nucleotide variant not provided [RCV002297623] Chr17:18121415 [GRCh38]
Chr17:18024729 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8812G>A (p.Gly2938Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003148577] Chr17:18157745 [GRCh38]
Chr17:18061059 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1445G>A (p.Arg482Gln) single nucleotide variant not provided [RCV003156514] Chr17:18120245 [GRCh38]
Chr17:18023559 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.3157G>C (p.Glu1053Gln) single nucleotide variant Inborn genetic diseases [RCV003258014] Chr17:18121957 [GRCh38]
Chr17:18025271 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1918G>A (p.Asp640Asn) single nucleotide variant Inborn genetic diseases [RCV003262758] Chr17:18120718 [GRCh38]
Chr17:18024032 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8450G>C (p.Arg2817Pro) single nucleotide variant not provided [RCV003156593] Chr17:18155423 [GRCh38]
Chr17:18058737 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5074C>T (p.Pro1692Ser) single nucleotide variant Inborn genetic diseases [RCV003262144] Chr17:18138877 [GRCh38]
Chr17:18042191 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3 copy number gain not provided [RCV002474502] Chr17:17103571..19331028 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8855C>T (p.Ala2952Val) single nucleotide variant not provided [RCV002469842] Chr17:18157788 [GRCh38]
Chr17:18061102 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2879C>G (p.Pro960Arg) single nucleotide variant Inborn genetic diseases [RCV003269169]|not provided [RCV002464806] Chr17:18121679 [GRCh38]
Chr17:18024993 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002465018] Chr17:18160000 [GRCh38]
Chr17:18063314 [GRCh37]
Chr17:17p11.2
benign|uncertain significance
NM_016239.4(MYO15A):c.3259G>A (p.Ala1087Thr) single nucleotide variant not provided [RCV002474478] Chr17:18122059 [GRCh38]
Chr17:18025373 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8449C>T (p.Arg2817Cys) single nucleotide variant not provided [RCV002469850] Chr17:18155422 [GRCh38]
Chr17:18058736 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9401G>A (p.Arg3134Gln) single nucleotide variant not provided [RCV002464856] Chr17:18161331 [GRCh38]
Chr17:18064645 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7657T>A (p.Ser2553Thr) single nucleotide variant not provided [RCV002467241] Chr17:18151397 [GRCh38]
Chr17:18054711 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8911G>A (p.Val2971Met) single nucleotide variant Inborn genetic diseases [RCV002772271] Chr17:18157844 [GRCh38]
Chr17:18061158 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.881A>G (p.Tyr294Cys) single nucleotide variant Inborn genetic diseases [RCV002749120] Chr17:18119681 [GRCh38]
Chr17:18022995 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4355C>T (p.Ala1452Val) single nucleotide variant not provided [RCV002295168] Chr17:18133259 [GRCh38]
Chr17:18036573 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2354G>A (p.Gly785Asp) single nucleotide variant not provided [RCV002300781] Chr17:18121154 [GRCh38]
Chr17:18024468 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8910del (p.Val2971fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV002444391] Chr17:18157842 [GRCh38]
Chr17:18061156 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.743G>C (p.Arg248Pro) single nucleotide variant not provided [RCV002299146] Chr17:18119543 [GRCh38]
Chr17:18022857 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4147G>A (p.Val1383Met) single nucleotide variant not provided [RCV002616194] Chr17:18131472 [GRCh38]
Chr17:18034786 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5911-9C>T single nucleotide variant not provided [RCV002837745] Chr17:18143557 [GRCh38]
Chr17:18046871 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5910+3A>G single nucleotide variant not provided [RCV002511241] Chr17:18142843 [GRCh38]
Chr17:18046157 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4410G>C (p.Glu1470Asp) single nucleotide variant Inborn genetic diseases [RCV002777108] Chr17:18133314 [GRCh38]
Chr17:18036628 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5155A>G (p.Asn1719Asp) single nucleotide variant not provided [RCV003015833] Chr17:18139555 [GRCh38]
Chr17:18042869 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8789-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002510689] Chr17:18157720 [GRCh38]
Chr17:18061034 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.5450G>A (p.Arg1817His) single nucleotide variant Inborn genetic diseases [RCV002729568] Chr17:18141062 [GRCh38]
Chr17:18044376 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7772G>A (p.Arg2591Gln) single nucleotide variant Inborn genetic diseases [RCV003095593]|not provided [RCV003088688] Chr17:18151512 [GRCh38]
Chr17:18054826 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8713+5G>C single nucleotide variant not provided [RCV002751213] Chr17:18157070 [GRCh38]
Chr17:18060384 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6177+2T>G single nucleotide variant not provided [RCV002775052] Chr17:18144002 [GRCh38]
Chr17:18047316 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.6046+18G>C single nucleotide variant not provided [RCV002776292] Chr17:18143814 [GRCh38]
Chr17:18047128 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5392C>T (p.Pro1798Ser) single nucleotide variant Inborn genetic diseases [RCV002749958] Chr17:18140818 [GRCh38]
Chr17:18044132 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.633G>C (p.Glu211Asp) single nucleotide variant Inborn genetic diseases [RCV002905899] Chr17:18119433 [GRCh38]
Chr17:18022747 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2024C>G (p.Pro675Arg) single nucleotide variant Inborn genetic diseases [RCV002905190] Chr17:18120824 [GRCh38]
Chr17:18024138 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.4031A>G (p.Gln1344Arg) single nucleotide variant Inborn genetic diseases [RCV002859322] Chr17:18127164 [GRCh38]
Chr17:18030478 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7477C>G (p.Pro2493Ala) single nucleotide variant Inborn genetic diseases [RCV002840380] Chr17:18151113 [GRCh38]
Chr17:18054427 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1995G>A (p.Val665=) single nucleotide variant not provided [RCV002882243] Chr17:18120795 [GRCh38]
Chr17:18024109 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5482C>T (p.Arg1828Cys) single nucleotide variant not provided [RCV003097610] Chr17:18141094 [GRCh38]
Chr17:18044408 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8161A>C (p.Thr2721Pro) single nucleotide variant not provided [RCV003034193] Chr17:18154692 [GRCh38]
Chr17:18058006 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2215C>T (p.Pro739Ser) single nucleotide variant Inborn genetic diseases [RCV002733162] Chr17:18121015 [GRCh38]
Chr17:18024329 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7210G>A (p.Ala2404Thr) single nucleotide variant Inborn genetic diseases [RCV002794245] Chr17:18149578 [GRCh38]
Chr17:18052892 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6325T>C (p.Phe2109Leu) single nucleotide variant not provided [RCV003034858] Chr17:18145923 [GRCh38]
Chr17:18049237 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1619G>A (p.Arg540His) single nucleotide variant not provided [RCV002613757] Chr17:18120419 [GRCh38]
Chr17:18023733 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10351-16C>T single nucleotide variant not provided [RCV002731620] Chr17:18173765 [GRCh38]
Chr17:18077079 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3443G>C (p.Arg1148Thr) single nucleotide variant Inborn genetic diseases [RCV002992050] Chr17:18122243 [GRCh38]
Chr17:18025557 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+6_4038+7insTGTG insertion not provided [RCV002993764] Chr17:18130816..18130817 [GRCh38]
Chr17:18034130..18034131 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1117G>C (p.Gly373Arg) single nucleotide variant not provided [RCV002615346] Chr17:18119917 [GRCh38]
Chr17:18023231 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7961C>T (p.Thr2654Ile) single nucleotide variant not provided [RCV002615239] Chr17:18152179 [GRCh38]
Chr17:18055493 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1034C>T (p.Pro345Leu) single nucleotide variant Inborn genetic diseases [RCV002774058] Chr17:18119834 [GRCh38]
Chr17:18023148 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9054G>T (p.Lys3018Asn) single nucleotide variant not provided [RCV002726811] Chr17:18158609 [GRCh38]
Chr17:18061923 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1540G>A (p.Glu514Lys) single nucleotide variant not provided [RCV002755409] Chr17:18120340 [GRCh38]
Chr17:18023654 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2054C>A (p.Ser685Ter) single nucleotide variant not provided [RCV002775014] Chr17:18120854 [GRCh38]
Chr17:18024168 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2422C>T (p.Pro808Ser) single nucleotide variant not provided [RCV002972224] Chr17:18121222 [GRCh38]
Chr17:18024536 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7244G>A (p.Arg2415His) single nucleotide variant Inborn genetic diseases [RCV002967593]|not provided [RCV002967592] Chr17:18150460 [GRCh38]
Chr17:18053774 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.3609+6dup duplication not provided [RCV002861825] Chr17:18122413..18122414 [GRCh38]
Chr17:18025727..18025728 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2681C>T (p.Pro894Leu) single nucleotide variant not provided [RCV002730077] Chr17:18121481 [GRCh38]
Chr17:18024795 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.359T>G (p.Leu120Arg) single nucleotide variant Inborn genetic diseases [RCV002773986] Chr17:18119159 [GRCh38]
Chr17:18022473 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1167C>A (p.Asp389Glu) single nucleotide variant not provided [RCV003033390] Chr17:18119967 [GRCh38]
Chr17:18023281 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1758C>T (p.Ile586=) single nucleotide variant not provided [RCV002618645] Chr17:18120558 [GRCh38]
Chr17:18023872 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9881G>A (p.Arg3294Gln) single nucleotide variant not provided [RCV002462610] Chr17:18166454 [GRCh38]
Chr17:18069768 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8731G>A (p.Val2911Met) single nucleotide variant Inborn genetic diseases [RCV002688488] Chr17:18157173 [GRCh38]
Chr17:18060487 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2513C>T (p.Ser838Leu) single nucleotide variant not provided [RCV002511463] Chr17:18121313 [GRCh38]
Chr17:18024627 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.2348C>G (p.Ser783Trp) single nucleotide variant not provided [RCV002462737] Chr17:18121148 [GRCh38]
Chr17:18024462 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9G>A (p.Lys3=) single nucleotide variant not provided [RCV002755926] Chr17:18118809 [GRCh38]
Chr17:18022123 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9811C>T (p.Arg3271Cys) single nucleotide variant not provided [RCV002509936] Chr17:18166384 [GRCh38]
Chr17:18069698 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.546G>C (p.Arg182=) single nucleotide variant not provided [RCV002908268] Chr17:18119346 [GRCh38]
Chr17:18022660 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.712T>G (p.Tyr238Asp) single nucleotide variant Inborn genetic diseases [RCV002882485] Chr17:18119512 [GRCh38]
Chr17:18022826 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.766G>A (p.Glu256Lys) single nucleotide variant Inborn genetic diseases [RCV002905382] Chr17:18119566 [GRCh38]
Chr17:18022880 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8387G>A (p.Gly2796Asp) single nucleotide variant not provided [RCV002705892] Chr17:18155360 [GRCh38]
Chr17:18058674 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8926G>T (p.Ala2976Ser) single nucleotide variant not provided [RCV002622856] Chr17:18157859 [GRCh38]
Chr17:18061173 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1519T>G (p.Leu507Val) single nucleotide variant Inborn genetic diseases [RCV002696343]|not provided [RCV003149057] Chr17:18120319 [GRCh38]
Chr17:18023633 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10292C>T (p.Ala3431Val) single nucleotide variant Inborn genetic diseases [RCV002762424] Chr17:18172232 [GRCh38]
Chr17:18075546 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10083-12C>T single nucleotide variant not provided [RCV002622265] Chr17:18171626 [GRCh38]
Chr17:18074940 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4615A>G (p.Ile1539Val) single nucleotide variant Inborn genetic diseases [RCV002572174]|not provided [RCV002572002] Chr17:18136435 [GRCh38]
Chr17:18039749 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+8GT[32] microsatellite not provided [RCV003039657] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.2201A>C (p.Asp734Ala) single nucleotide variant Inborn genetic diseases [RCV002692472] Chr17:18121001 [GRCh38]
Chr17:18024315 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+8GT[13] microsatellite not provided [RCV002979031] Chr17:18130818..18130845 [GRCh38]
Chr17:18034132..18034159 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10465C>T (p.Arg3489Cys) single nucleotide variant Inborn genetic diseases [RCV002981227]|not provided [RCV003314757] Chr17:18173895 [GRCh38]
Chr17:18077209 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2791G>A (p.Val931Met) single nucleotide variant not provided [RCV002639323] Chr17:18121591 [GRCh38]
Chr17:18024905 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003135228]|Inborn genetic diseases [RCV002708201] Chr17:18167647 [GRCh38]
Chr17:18070961 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8162C>T (p.Thr2721Met) single nucleotide variant Inborn genetic diseases [RCV002925897] Chr17:18154693 [GRCh38]
Chr17:18058007 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4320+2_4320+3insA insertion not provided [RCV002695924] Chr17:18132568..18132569 [GRCh38]
Chr17:18035882..18035883 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7263G>A (p.Gln2421=) single nucleotide variant not provided [RCV002953433] Chr17:18150479 [GRCh38]
Chr17:18053793 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6046+16G>A single nucleotide variant not provided [RCV002593201] Chr17:18143812 [GRCh38]
Chr17:18047126 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5639G>A (p.Gly1880Glu) single nucleotide variant not provided [RCV003019450] Chr17:18141760 [GRCh38]
Chr17:18045074 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2881G>A (p.Glu961Lys) single nucleotide variant Inborn genetic diseases [RCV002844518] Chr17:18121681 [GRCh38]
Chr17:18024995 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1891G>C (p.Ala631Pro) single nucleotide variant Inborn genetic diseases [RCV002845716] Chr17:18120691 [GRCh38]
Chr17:18024005 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6657G>C (p.Lys2219Asn) single nucleotide variant not provided [RCV002923088] Chr17:18148176 [GRCh38]
Chr17:18051490 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3942T>C (p.Ser1314=) single nucleotide variant not provided [RCV002638952] Chr17:18127075 [GRCh38]
Chr17:18030389 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1283C>T (p.Ala428Val) single nucleotide variant Inborn genetic diseases [RCV002822181] Chr17:18120083 [GRCh38]
Chr17:18023397 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7973C>T (p.Pro2658Leu) single nucleotide variant not provided [RCV003037038] Chr17:18153781 [GRCh38]
Chr17:18057095 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1888A>G (p.Arg630Gly) single nucleotide variant Inborn genetic diseases [RCV002943036]|not provided [RCV002923952] Chr17:18120688 [GRCh38]
Chr17:18024002 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8275C>T (p.Arg2759Trp) single nucleotide variant not provided [RCV002618949] Chr17:18155160 [GRCh38]
Chr17:18058474 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9304-8C>T single nucleotide variant not provided [RCV002591125] Chr17:18159927 [GRCh38]
Chr17:18063241 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8232C>A (p.Asn2744Lys) single nucleotide variant not provided [RCV002796801] Chr17:18155117 [GRCh38]
Chr17:18058431 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7967-14C>T single nucleotide variant not provided [RCV002781406] Chr17:18153761 [GRCh38]
Chr17:18057075 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6845A>G (p.Tyr2282Cys) single nucleotide variant not provided [RCV003079211] Chr17:18148841 [GRCh38]
Chr17:18052155 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+8GT[35] microsatellite not provided [RCV002913000] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.6017A>G (p.Glu2006Gly) single nucleotide variant not provided [RCV002867890] Chr17:18143767 [GRCh38]
Chr17:18047081 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5762G>A (p.Arg1921Gln) single nucleotide variant Inborn genetic diseases [RCV002799714] Chr17:18142191 [GRCh38]
Chr17:18045505 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8059G>T (p.Ala2687Ser) single nucleotide variant not provided [RCV003021054] Chr17:18153867 [GRCh38]
Chr17:18057181 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8597A>G (p.Lys2866Arg) single nucleotide variant Inborn genetic diseases [RCV002691761] Chr17:18156332 [GRCh38]
Chr17:18059646 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6571G>A (p.Ala2191Thr) single nucleotide variant Inborn genetic diseases [RCV002925162] Chr17:18148090 [GRCh38]
Chr17:18051404 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5198G>A (p.Arg1733Gln) single nucleotide variant not provided [RCV002570255] Chr17:18139598 [GRCh38]
Chr17:18042912 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7654+15C>A single nucleotide variant not provided [RCV002571049] Chr17:18151305 [GRCh38]
Chr17:18054619 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7688C>T (p.Thr2563Met) single nucleotide variant Inborn genetic diseases [RCV002848552] Chr17:18151428 [GRCh38]
Chr17:18054742 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6675C>T (p.Asp2225=) single nucleotide variant not provided [RCV002781032] Chr17:18148194 [GRCh38]
Chr17:18051508 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10152G>A (p.Leu3384=) single nucleotide variant not provided [RCV002735206] Chr17:18171707 [GRCh38]
Chr17:18075021 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2825C>T (p.Pro942Leu) single nucleotide variant Inborn genetic diseases [RCV002569690]|not provided [RCV002575114] Chr17:18121625 [GRCh38]
Chr17:18024939 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1144G>A (p.Glu382Lys) single nucleotide variant Inborn genetic diseases [RCV002781655] Chr17:18119944 [GRCh38]
Chr17:18023258 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9172T>C (p.Ser3058Pro) single nucleotide variant not provided [RCV002622547] Chr17:18159290 [GRCh38]
Chr17:18062604 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.411C>T (p.Leu137=) single nucleotide variant not provided [RCV002796279] Chr17:18119211 [GRCh38]
Chr17:18022525 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5997dup (p.His2000fs) duplication not provided [RCV002870785] Chr17:18143743..18143744 [GRCh38]
Chr17:18047057..18047058 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5061G>A (p.Pro1687=) single nucleotide variant not provided [RCV002575795] Chr17:18138864 [GRCh38]
Chr17:18042178 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7422G>C (p.Thr2474=) single nucleotide variant not provided [RCV002745238] Chr17:18150862 [GRCh38]
Chr17:18054176 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.218A>G (p.Lys73Arg) single nucleotide variant Inborn genetic diseases [RCV002892989] Chr17:18119018 [GRCh38]
Chr17:18022332 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9949-13G>A single nucleotide variant not provided [RCV002852387] Chr17:18167577 [GRCh38]
Chr17:18070891 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.951G>A (p.Ala317=) single nucleotide variant not provided [RCV002668010] Chr17:18119751 [GRCh38]
Chr17:18023065 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3756+6G>A single nucleotide variant not provided [RCV002642221] Chr17:18125237 [GRCh38]
Chr17:18028551 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7905G>A (p.Glu2635=) single nucleotide variant not provided [RCV002918981] Chr17:18152123 [GRCh38]
Chr17:18055437 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1630C>T (p.Arg544Cys) single nucleotide variant not provided [RCV002958612] Chr17:18120430 [GRCh38]
Chr17:18023744 [GRCh37]
Chr17:17p11.2
likely benign|conflicting interpretations of pathogenicity
NM_016239.4(MYO15A):c.233C>A (p.Thr78Asn) single nucleotide variant not provided [RCV003007889] Chr17:18119033 [GRCh38]
Chr17:18022347 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1887G>C (p.Arg629Ser) single nucleotide variant not provided [RCV002829058] Chr17:18120687 [GRCh38]
Chr17:18024001 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6784C>T (p.Arg2262Cys) single nucleotide variant not provided [RCV002594914] Chr17:18148780 [GRCh38]
Chr17:18052094 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10408A>C (p.Thr3470Pro) single nucleotide variant not provided [RCV003007914] Chr17:18173838 [GRCh38]
Chr17:18077152 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.837C>G (p.Tyr279Ter) single nucleotide variant not provided [RCV002985560] Chr17:18119637 [GRCh38]
Chr17:18022951 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5081T>C (p.Met1694Thr) single nucleotide variant not provided [RCV003043552] Chr17:18138884 [GRCh38]
Chr17:18042198 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6698A>G (p.Gln2233Arg) single nucleotide variant Inborn genetic diseases [RCV002764760] Chr17:18148502 [GRCh38]
Chr17:18051816 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2963T>G (p.Val988Gly) single nucleotide variant not provided [RCV002765787] Chr17:18121763 [GRCh38]
Chr17:18025077 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10395G>C (p.Arg3465=) single nucleotide variant not provided [RCV003024013] Chr17:18173825 [GRCh38]
Chr17:18077139 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4207-16C>T single nucleotide variant not provided [RCV002625587] Chr17:18132437 [GRCh38]
Chr17:18035751 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1138T>C (p.Tyr380His) single nucleotide variant not provided [RCV002917641] Chr17:18119938 [GRCh38]
Chr17:18023252 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4497G>A (p.Glu1499=) single nucleotide variant not provided [RCV003058182] Chr17:18135725 [GRCh38]
Chr17:18039039 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2091C>T (p.Leu697=) single nucleotide variant not provided [RCV002624191] Chr17:18120891 [GRCh38]
Chr17:18024205 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.762C>G (p.Tyr254Ter) single nucleotide variant not provided [RCV003005930] Chr17:18119562 [GRCh38]
Chr17:18022876 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV002508345] Chr17:18122376 [GRCh38]
Chr17:18025690 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.2326C>T (p.Pro776Ser) single nucleotide variant Inborn genetic diseases [RCV002743328]|not provided [RCV003128885] Chr17:18121126 [GRCh38]
Chr17:18024440 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1781A>C (p.Lys594Thr) single nucleotide variant not provided [RCV002829057] Chr17:18120581 [GRCh38]
Chr17:18023895 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4897A>T (p.Ile1633Leu) single nucleotide variant not provided [RCV002574239] Chr17:18138136 [GRCh38]
Chr17:18041450 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4597-4del deletion not provided [RCV002623332] Chr17:18136411 [GRCh38]
Chr17:18039725 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3478C>T (p.Arg1160Trp) single nucleotide variant Inborn genetic diseases [RCV002763955] Chr17:18122278 [GRCh38]
Chr17:18025592 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2254G>A (p.Gly752Arg) single nucleotide variant Inborn genetic diseases [RCV003004423] Chr17:18121054 [GRCh38]
Chr17:18024368 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5211+17A>T single nucleotide variant not provided [RCV002575585] Chr17:18139628 [GRCh38]
Chr17:18042942 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3359G>C (p.Arg1120Pro) single nucleotide variant Inborn genetic diseases [RCV002826634] Chr17:18122159 [GRCh38]
Chr17:18025473 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.382A>G (p.Ser128Gly) single nucleotide variant Inborn genetic diseases [RCV002873518] Chr17:18119182 [GRCh38]
Chr17:18022496 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+8GT[23] microsatellite not provided [RCV002894564] Chr17:18130818..18130825 [GRCh38]
Chr17:18034132..18034139 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.2405G>A (p.Arg802His) single nucleotide variant Inborn genetic diseases [RCV002701808] Chr17:18121205 [GRCh38]
Chr17:18024519 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4548G>A (p.Leu1516=) single nucleotide variant not provided [RCV003005660] Chr17:18135776 [GRCh38]
Chr17:18039090 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6047-15C>T single nucleotide variant not provided [RCV002575098] Chr17:18143855 [GRCh38]
Chr17:18047169 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6005A>C (p.Glu2002Ala) single nucleotide variant not provided [RCV002852540] Chr17:18143755 [GRCh38]
Chr17:18047069 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.937G>A (p.Glu313Lys) single nucleotide variant Inborn genetic diseases [RCV002804073] Chr17:18119737 [GRCh38]
Chr17:18023051 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5761C>T (p.Arg1921Ter) single nucleotide variant not provided [RCV002740577] Chr17:18142190 [GRCh38]
Chr17:18045504 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10003A>G (p.Ser3335Gly) single nucleotide variant Inborn genetic diseases [RCV002581999]|not provided [RCV002574655] Chr17:18167644 [GRCh38]
Chr17:18070958 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.576C>T (p.Arg192=) single nucleotide variant not provided [RCV002595146] Chr17:18119376 [GRCh38]
Chr17:18022690 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.7798G>A (p.Gly2600Arg) single nucleotide variant Inborn genetic diseases [RCV002698476] Chr17:18151856 [GRCh38]
Chr17:18055170 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3122C>T (p.Pro1041Leu) single nucleotide variant Inborn genetic diseases [RCV002825895] Chr17:18121922 [GRCh38]
Chr17:18025236 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8653C>T (p.Leu2885=) single nucleotide variant not provided [RCV002710388] Chr17:18157005 [GRCh38]
Chr17:18060319 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6449T>A (p.Leu2150Gln) single nucleotide variant not provided [RCV003007826] Chr17:18146047 [GRCh38]
Chr17:18049361 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1813G>A (p.Ala605Thr) single nucleotide variant not provided [RCV002623705] Chr17:18120613 [GRCh38]
Chr17:18023927 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9884G>A (p.Arg3295His) single nucleotide variant Inborn genetic diseases [RCV002666945]|not provided [RCV002650135] Chr17:18166457 [GRCh38]
Chr17:18069771 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2872C>G (p.Pro958Ala) single nucleotide variant not provided [RCV002741476] Chr17:18121672 [GRCh38]
Chr17:18024986 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5420_5421del (p.Leu1806_Phe1807insTer) deletion not provided [RCV002830206] Chr17:18141031..18141032 [GRCh38]
Chr17:18044345..18044346 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4206G>C (p.Gln1402His) single nucleotide variant not provided [RCV003056250] Chr17:18131531 [GRCh38]
Chr17:18034845 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3353T>C (p.Met1118Thr) single nucleotide variant Inborn genetic diseases [RCV002893218] Chr17:18122153 [GRCh38]
Chr17:18025467 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1835A>G (p.Tyr612Cys) single nucleotide variant Inborn genetic diseases [RCV002665996] Chr17:18120635 [GRCh38]
Chr17:18023949 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9767T>C (p.Ile3256Thr) single nucleotide variant Inborn genetic diseases [RCV003083401]|not provided [RCV003071849] Chr17:18163818 [GRCh38]
Chr17:18067132 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6353dup (p.Ala2119fs) duplication not provided [RCV003065889] Chr17:18145950..18145951 [GRCh38]
Chr17:18049264..18049265 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10071C>T (p.Tyr3357=) single nucleotide variant not provided [RCV002941938] Chr17:18167712 [GRCh38]
Chr17:18071026 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8521A>G (p.Ser2841Gly) single nucleotide variant not provided [RCV002676589] Chr17:18156256 [GRCh38]
Chr17:18059570 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2352G>T (p.Pro784=) single nucleotide variant not provided [RCV002938960] Chr17:18121152 [GRCh38]
Chr17:18024466 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3061C>T (p.Pro1021Ser) single nucleotide variant not provided [RCV002580534] Chr17:18121861 [GRCh38]
Chr17:18025175 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5767C>T (p.Arg1923Cys) single nucleotide variant not provided [RCV002632323] Chr17:18142196 [GRCh38]
Chr17:18045510 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10554G>A (p.Lys3518=) single nucleotide variant not provided [RCV003027899] Chr17:18178831 [GRCh38]
Chr17:18082145 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5432T>C (p.Val1811Ala) single nucleotide variant not provided [RCV002835015] Chr17:18141044 [GRCh38]
Chr17:18044358 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9283G>A (p.Val3095Met) single nucleotide variant Inborn genetic diseases [RCV002673131] Chr17:18159659 [GRCh38]
Chr17:18062973 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.6485C>T (p.Pro2162Leu) single nucleotide variant not provided [RCV002938393] Chr17:18146083 [GRCh38]
Chr17:18049397 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7083G>C (p.Glu2361Asp) single nucleotide variant not provided [RCV002834536] Chr17:18149342 [GRCh38]
Chr17:18052656 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.77C>T (p.Pro26Leu) single nucleotide variant Inborn genetic diseases [RCV002809784] Chr17:18118877 [GRCh38]
Chr17:18022191 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1561C>T (p.Pro521Ser) single nucleotide variant not provided [RCV002599821] Chr17:18120361 [GRCh38]
Chr17:18023675 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8167T>G (p.Ser2723Ala) single nucleotide variant Inborn genetic diseases [RCV002855796] Chr17:18154698 [GRCh38]
Chr17:18058012 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5686_5687dup (p.Ser1896fs) microsatellite not provided [RCV003010104] Chr17:18142111..18142112 [GRCh38]
Chr17:18045425..18045426 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6668C>T (p.Ala2223Val) single nucleotide variant not provided [RCV002597671] Chr17:18148187 [GRCh38]
Chr17:18051501 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4038+8GT[22] microsatellite not provided [RCV002895496] Chr17:18130818..18130827 [GRCh38]
Chr17:18034132..18034141 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6094C>T (p.Arg2032Ter) single nucleotide variant not provided [RCV003029480] Chr17:18143917 [GRCh38]
Chr17:18047231 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6624G>C (p.Pro2208=) single nucleotide variant not provided [RCV002937150] Chr17:18148143 [GRCh38]
Chr17:18051457 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5674C>T (p.Gln1892Ter) single nucleotide variant not provided [RCV002834114] Chr17:18142103 [GRCh38]
Chr17:18045417 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9304-19C>T single nucleotide variant not provided [RCV002806345] Chr17:18159916 [GRCh38]
Chr17:18063230 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1632C>A (p.Arg544=) single nucleotide variant not provided [RCV002597829] Chr17:18120432 [GRCh38]
Chr17:18023746 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5381G>A (p.Arg1794His) single nucleotide variant Inborn genetic diseases [RCV002672396] Chr17:18140807 [GRCh38]
Chr17:18044121 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5407-16C>T single nucleotide variant not provided [RCV002577641] Chr17:18141003 [GRCh38]
Chr17:18044317 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8083A>G (p.Lys2695Glu) single nucleotide variant not provided [RCV002715868] Chr17:18153891 [GRCh38]
Chr17:18057205 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4745T>C (p.Leu1582Pro) single nucleotide variant not provided [RCV002895425] Chr17:18136652 [GRCh38]
Chr17:18039966 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5400C>G (p.His1800Gln) single nucleotide variant Inborn genetic diseases [RCV002896571] Chr17:18140826 [GRCh38]
Chr17:18044140 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10083-9C>T single nucleotide variant not provided [RCV002599248] Chr17:18171629 [GRCh38]
Chr17:18074943 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.311C>T (p.Pro104Leu) single nucleotide variant not provided [RCV002578768] Chr17:18119111 [GRCh38]
Chr17:18022425 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5531+14G>C single nucleotide variant not provided [RCV002645876] Chr17:18141157 [GRCh38]
Chr17:18044471 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10382T>A (p.Ile3461Asn) single nucleotide variant not provided [RCV003063995] Chr17:18173812 [GRCh38]
Chr17:18077126 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2037G>A (p.Pro679=) single nucleotide variant not provided [RCV003088428] Chr17:18120837 [GRCh38]
Chr17:18024151 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7853A>C (p.Lys2618Thr) single nucleotide variant not provided [RCV002716520] Chr17:18151911 [GRCh38]
Chr17:18055225 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6139A>G (p.Asn2047Asp) single nucleotide variant not provided [RCV003044310] Chr17:18143962 [GRCh38]
Chr17:18047276 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4682C>T (p.Ala1561Val) single nucleotide variant not provided [RCV002598431] Chr17:18136589 [GRCh38]
Chr17:18039903 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.631G>A (p.Glu211Lys) single nucleotide variant Inborn genetic diseases [RCV002714539] Chr17:18119431 [GRCh38]
Chr17:18022745 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7960A>G (p.Thr2654Ala) single nucleotide variant not provided [RCV002921880] Chr17:18152178 [GRCh38]
Chr17:18055492 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.340C>T (p.Arg114Cys) single nucleotide variant Inborn genetic diseases [RCV002719529] Chr17:18119140 [GRCh38]
Chr17:18022454 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8340+4C>T single nucleotide variant not provided [RCV002579349] Chr17:18155229 [GRCh38]
Chr17:18058543 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6046+18G>T single nucleotide variant not provided [RCV002601466] Chr17:18143814 [GRCh38]
Chr17:18047128 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1075C>G (p.Pro359Ala) single nucleotide variant Inborn genetic diseases [RCV002835668] Chr17:18119875 [GRCh38]
Chr17:18023189 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2933C>A (p.Pro978His) single nucleotide variant Inborn genetic diseases [RCV002836180] Chr17:18121733 [GRCh38]
Chr17:18025047 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4173del (p.Gln1391fs) deletion not provided [RCV003062006] Chr17:18131498 [GRCh38]
Chr17:18034812 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5203C>T (p.Arg1735Trp) single nucleotide variant not provided [RCV002601816] Chr17:18139603 [GRCh38]
Chr17:18042917 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs) deletion not provided [RCV003011045] Chr17:18143753 [GRCh38]
Chr17:18047067 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.3881T>C (p.Val1294Ala) single nucleotide variant not provided [RCV002716519] Chr17:18126805 [GRCh38]
Chr17:18030119 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8459+14G>T single nucleotide variant not provided [RCV002630170] Chr17:18155446 [GRCh38]
Chr17:18058760 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5881G>A (p.Ala1961Thr) single nucleotide variant not provided [RCV002675908] Chr17:18142811 [GRCh38]
Chr17:18046125 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1631G>A (p.Arg544His) single nucleotide variant Inborn genetic diseases [RCV002714171] Chr17:18120431 [GRCh38]
Chr17:18023745 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.9771C>T (p.Phe3257=) single nucleotide variant not provided [RCV002806164] Chr17:18163822 [GRCh38]
Chr17:18067136 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.793G>C (p.Gly265Arg) single nucleotide variant not provided [RCV002577180] Chr17:18119593 [GRCh38]
Chr17:18022907 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7213-3C>T single nucleotide variant not provided [RCV002895514] Chr17:18150426 [GRCh38]
Chr17:18053740 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5360+13G>A single nucleotide variant not provided [RCV002650441] Chr17:18140678 [GRCh38]
Chr17:18043992 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5890del (p.Ser1964fs) deletion not provided [RCV002899309] Chr17:18142820 [GRCh38]
Chr17:18046134 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7399C>T (p.Arg2467Trp) single nucleotide variant not provided [RCV003063109] Chr17:18150839 [GRCh38]
Chr17:18054153 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.25A>C (p.Lys9Gln) single nucleotide variant Inborn genetic diseases [RCV002807943] Chr17:18118825 [GRCh38]
Chr17:18022139 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5965-10G>A single nucleotide variant not provided [RCV003061896] Chr17:18143705 [GRCh38]
Chr17:18047019 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7761C>T (p.Phe2587=) single nucleotide variant not provided [RCV003026710] Chr17:18151501 [GRCh38]
Chr17:18054815 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7773G>A (p.Arg2591=) single nucleotide variant not provided [RCV002646345] Chr17:18151513 [GRCh38]
Chr17:18054827 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1419C>G (p.Leu473=) single nucleotide variant not provided [RCV002938392] Chr17:18120219 [GRCh38]
Chr17:18023533 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.185G>A (p.Gly62Asp) single nucleotide variant not provided [RCV002602399] Chr17:18118985 [GRCh38]
Chr17:18022299 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8750T>C (p.Val2917Ala) single nucleotide variant not provided [RCV002716846] Chr17:18157192 [GRCh38]
Chr17:18060506 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3756+20_3756+52del deletion not provided [RCV002630983] Chr17:18125248..18125280 [GRCh38]
Chr17:18028562..18028594 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.962G>C (p.Gly321Ala) single nucleotide variant not provided [RCV002720809] Chr17:18119762 [GRCh38]
Chr17:18023076 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8927C>G (p.Ala2976Gly) single nucleotide variant not provided [RCV002583722] Chr17:18157860 [GRCh38]
Chr17:18061174 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10127C>T (p.Thr3376Met) single nucleotide variant not provided [RCV002605525] Chr17:18171682 [GRCh38]
Chr17:18074996 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1321G>A (p.Ala441Thr) single nucleotide variant Inborn genetic diseases [RCV002656539] Chr17:18120121 [GRCh38]
Chr17:18023435 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2315C>G (p.Pro772Arg) single nucleotide variant not provided [RCV002585426] Chr17:18121115 [GRCh38]
Chr17:18024429 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.6046+20G>C single nucleotide variant not provided [RCV002582662] Chr17:18143816 [GRCh38]
Chr17:18047130 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7212+9G>A single nucleotide variant not provided [RCV002604489] Chr17:18149589 [GRCh38]
Chr17:18052903 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9814C>T (p.Arg3272Cys) single nucleotide variant Inborn genetic diseases [RCV002944919] Chr17:18166387 [GRCh38]
Chr17:18069701 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2795A>G (p.Asp932Gly) single nucleotide variant not provided [RCV002635244] Chr17:18121595 [GRCh38]
Chr17:18024909 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9518-2A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003153018] Chr17:18162583 [GRCh38]
Chr17:18065897 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2753C>T (p.Thr918Met) single nucleotide variant not provided [RCV002635243] Chr17:18121553 [GRCh38]
Chr17:18024867 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9938A>G (p.His3313Arg) single nucleotide variant not provided [RCV002726061] Chr17:18166511 [GRCh38]
Chr17:18069825 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3479G>T (p.Arg1160Leu) single nucleotide variant Inborn genetic diseases [RCV002944515] Chr17:18122279 [GRCh38]
Chr17:18025593 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1318del (p.Asp440fs) deletion MYO15A-related condition [RCV003404053]|not provided [RCV003071725] Chr17:18120117 [GRCh38]
Chr17:18023431 [GRCh37]
Chr17:17p11.2
pathogenic|likely pathogenic
NM_016239.4(MYO15A):c.7714C>T (p.Pro2572Ser) single nucleotide variant Inborn genetic diseases [RCV002944997] Chr17:18151454 [GRCh38]
Chr17:18054768 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4708A>C (p.Arg1570=) single nucleotide variant not provided [RCV003067226] Chr17:18136615 [GRCh38]
Chr17:18039929 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5085G>A (p.Pro1695=) single nucleotide variant not provided [RCV002604571] Chr17:18138888 [GRCh38]
Chr17:18042202 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8382C>T (p.His2794=) single nucleotide variant not provided [RCV002607965] Chr17:18155355 [GRCh38]
Chr17:18058669 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2257G>A (p.Ala753Thr) single nucleotide variant not provided [RCV002608124] Chr17:18121057 [GRCh38]
Chr17:18024371 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6633C>T (p.Leu2211=) single nucleotide variant not provided [RCV002604815] Chr17:18148152 [GRCh38]
Chr17:18051466 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5314G>A (p.Ala1772Thr) single nucleotide variant Inborn genetic diseases [RCV002656832] Chr17:18140619 [GRCh38]
Chr17:18043933 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.894C>T (p.Pro298=) single nucleotide variant not provided [RCV002943637] Chr17:18119694 [GRCh38]
Chr17:18023008 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.9200T>G (p.Leu3067Arg) single nucleotide variant Inborn genetic diseases [RCV002724238] Chr17:18159318 [GRCh38]
Chr17:18062632 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1352G>A (p.Arg451His) single nucleotide variant Inborn genetic diseases [RCV002677577] Chr17:18120152 [GRCh38]
Chr17:18023466 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1946C>G (p.Pro649Arg) single nucleotide variant Inborn genetic diseases [RCV002677750]|not provided [RCV003481408] Chr17:18120746 [GRCh38]
Chr17:18024060 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2222C>T (p.Pro741Leu) single nucleotide variant not provided [RCV002609467] Chr17:18121022 [GRCh38]
Chr17:18024336 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8771G>A (p.Arg2924His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003134650]|not provided [RCV003093203] Chr17:18157213 [GRCh38]
Chr17:18060527 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8114G>A (p.Ser2705Asn) single nucleotide variant Inborn genetic diseases [RCV002945060] Chr17:18154156 [GRCh38]
Chr17:18057470 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2187G>T (p.Pro729=) single nucleotide variant not provided [RCV002814300] Chr17:18120987 [GRCh38]
Chr17:18024301 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4482+6G>A single nucleotide variant not provided [RCV002590212] Chr17:18133392 [GRCh38]
Chr17:18036706 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6194del (p.Met2065fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV003155574] Chr17:18144513 [GRCh38]
Chr17:18047827 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003155577] Chr17:18161373 [GRCh38]
Chr17:18064687 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8831del (p.Pro2944fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV003155576] Chr17:18157762 [GRCh38]
Chr17:18061076 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2766G>A (p.Val922=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003132790] Chr17:18121566 [GRCh38]
Chr17:18024880 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003155575] Chr17:18148118 [GRCh38]
Chr17:18051432 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.10351-15T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003155578] Chr17:18173766 [GRCh38]
Chr17:18077080 [GRCh37]
Chr17:17p11.2
likely pathogenic|uncertain significance
NM_016239.4(MYO15A):c.4000G>A (p.Ala1334Thr) single nucleotide variant not provided [RCV003327981] Chr17:18127133 [GRCh38]
Chr17:18030447 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6454G>A (p.Ala2152Thr) single nucleotide variant Inborn genetic diseases [RCV003184865] Chr17:18146052 [GRCh38]
Chr17:18049366 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4907A>G (p.Gln1636Arg) single nucleotide variant not provided [RCV003225388] Chr17:18138146 [GRCh38]
Chr17:18041460 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5030A>G (p.Gln1677Arg) single nucleotide variant Inborn genetic diseases [RCV003218116] Chr17:18138833 [GRCh38]
Chr17:18042147 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10508G>A (p.Arg3503His) single nucleotide variant Inborn genetic diseases [RCV003193074]|not provided [RCV003314763] Chr17:18178785 [GRCh38]
Chr17:18082099 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7624C>A (p.Leu2542Ile) single nucleotide variant Inborn genetic diseases [RCV003193136] Chr17:18151260 [GRCh38]
Chr17:18054574 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6466A>G (p.Ser2156Gly) single nucleotide variant not provided [RCV003159409] Chr17:18146064 [GRCh38]
Chr17:18049378 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.518C>T (p.Pro173Leu) single nucleotide variant Inborn genetic diseases [RCV003204911] Chr17:18119318 [GRCh38]
Chr17:18022632 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2641C>T (p.Arg881Trp) single nucleotide variant Inborn genetic diseases [RCV003206296] Chr17:18121441 [GRCh38]
Chr17:18024755 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2720G>A (p.Arg907Gln) single nucleotide variant Inborn genetic diseases [RCV003207939] Chr17:18121520 [GRCh38]
Chr17:18024834 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10228G>A (p.Ala3410Thr) single nucleotide variant not provided [RCV003225597] Chr17:18172168 [GRCh38]
Chr17:18075482 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5281G>A (p.Val1761Ile) single nucleotide variant not provided [RCV003228354] Chr17:18140586 [GRCh38]
Chr17:18043900 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8998C>T (p.His3000Tyr) single nucleotide variant not provided [RCV003225322] Chr17:18158553 [GRCh38]
Chr17:18061867 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4596+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003227459] Chr17:18135825 [GRCh38]
Chr17:18039139 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV003137851] Chr17:18119173..18119174 [GRCh38]
Chr17:18022487..18022488 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4366C>T (p.Arg1456Cys) single nucleotide variant Inborn genetic diseases [RCV003192991] Chr17:18133270 [GRCh38]
Chr17:18036584 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5404_5405delinsGT (p.Lys1802Val) indel not provided [RCV003223801] Chr17:18140830..18140831 [GRCh38]
Chr17:18044144..18044145 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8789-1G>A single nucleotide variant not provided [RCV003223831] Chr17:18157721 [GRCh38]
Chr17:18061035 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.4964A>G (p.Tyr1655Cys) single nucleotide variant not provided [RCV003222905] Chr17:18138203 [GRCh38]
Chr17:18041517 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1 copy number loss not provided [RCV003222939] Chr17:17116969..20217378 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9775G>T (p.Val3259Phe) single nucleotide variant Inborn genetic diseases [RCV003194006] Chr17:18163826 [GRCh38]
Chr17:18067140 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003388637]|not provided [RCV003219034] Chr17:18131272 [GRCh38]
Chr17:18034586 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3047C>T (p.Ala1016Val) single nucleotide variant Inborn genetic diseases [RCV003219359] Chr17:18121847 [GRCh38]
Chr17:18025161 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9691-2A>C single nucleotide variant not provided [RCV003228380] Chr17:18163740 [GRCh38]
Chr17:18067054 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003229554] Chr17:18142816 [GRCh38]
Chr17:18046130 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.1099C>T (p.Pro367Ser) single nucleotide variant not provided [RCV003228322] Chr17:18119899 [GRCh38]
Chr17:18023213 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2413C>T (p.Pro805Ser) single nucleotide variant not provided [RCV003227245] Chr17:18121213 [GRCh38]
Chr17:18024527 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9590G>T (p.Ser3197Ile) single nucleotide variant Inborn genetic diseases [RCV003309026] Chr17:18162657 [GRCh38]
Chr17:18065971 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2855G>T (p.Gly952Val) single nucleotide variant not provided [RCV003321304] Chr17:18121655 [GRCh38]
Chr17:18024969 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8538C>T (p.Leu2846=) single nucleotide variant not provided [RCV003872503] Chr17:18156273 [GRCh38]
Chr17:18059587 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9424G>A (p.Val3142Met) single nucleotide variant Inborn genetic diseases [RCV003284899] Chr17:18161354 [GRCh38]
Chr17:18064668 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1898C>A (p.Pro633Gln) single nucleotide variant Inborn genetic diseases [RCV003263743] Chr17:18120698 [GRCh38]
Chr17:18024012 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10453G>A (p.Val3485Met) single nucleotide variant not provided [RCV003325835] Chr17:18173883 [GRCh38]
Chr17:18077197 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.725G>A (p.Gly242Asp) single nucleotide variant not provided [RCV003329777] Chr17:18119525 [GRCh38]
Chr17:18022839 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5831G>A (p.Arg1944His) single nucleotide variant not provided [RCV003326961] Chr17:18142761 [GRCh38]
Chr17:18046075 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5529C>A (p.Asp1843Glu) single nucleotide variant not provided [RCV003325707] Chr17:18141141 [GRCh38]
Chr17:18044455 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9103T>C (p.Ser3035Pro) single nucleotide variant not provided [RCV003328793] Chr17:18158944 [GRCh38]
Chr17:18062258 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9983G>C (p.Ser3328Thr) single nucleotide variant not provided [RCV003329039] Chr17:18167624 [GRCh38]
Chr17:18070938 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9995G>C (p.Ser3332Thr) single nucleotide variant Inborn genetic diseases [RCV003356638] Chr17:18167636 [GRCh38]
Chr17:18070950 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7705T>C (p.Phe2569Leu) single nucleotide variant Inborn genetic diseases [RCV003342549] Chr17:18151445 [GRCh38]
Chr17:18054759 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7546G>A (p.Ala2516Thr) single nucleotide variant Inborn genetic diseases [RCV003357295] Chr17:18151182 [GRCh38]
Chr17:18054496 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7990C>G (p.Pro2664Ala) single nucleotide variant Inborn genetic diseases [RCV003343147] Chr17:18153798 [GRCh38]
Chr17:18057112 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6109C>G (p.Pro2037Ala) single nucleotide variant Inborn genetic diseases [RCV003345951] Chr17:18143932 [GRCh38]
Chr17:18047246 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1318G>C (p.Asp440His) single nucleotide variant Inborn genetic diseases [RCV003385904] Chr17:18120118 [GRCh38]
Chr17:18023432 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1022A>G (p.Tyr341Cys) single nucleotide variant Inborn genetic diseases [RCV003349633] Chr17:18119822 [GRCh38]
Chr17:18023136 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5747T>G (p.Phe1916Cys) single nucleotide variant Inborn genetic diseases [RCV003351025] Chr17:18142176 [GRCh38]
Chr17:18045490 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2246G>A (p.Arg749His) single nucleotide variant Inborn genetic diseases [RCV003386513] Chr17:18121046 [GRCh38]
Chr17:18024360 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.8513A>C (p.Asn2838Thr) single nucleotide variant Inborn genetic diseases [RCV003353455]|not provided [RCV003443208] Chr17:18156248 [GRCh38]
Chr17:18059562 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.2348C>T (p.Ser783Leu) single nucleotide variant Inborn genetic diseases [RCV003374597] Chr17:18121148 [GRCh38]
Chr17:18024462 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.394A>C (p.Thr132Pro) single nucleotide variant Inborn genetic diseases [RCV003374716] Chr17:18119194 [GRCh38]
Chr17:18022508 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.9390C>G (p.Asp3130Glu) single nucleotide variant Inborn genetic diseases [RCV003385249] Chr17:18161320 [GRCh38]
Chr17:18064634 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.7619C>T (p.Pro2540Leu) single nucleotide variant Inborn genetic diseases [RCV003371318] Chr17:18151255 [GRCh38]
Chr17:18054569 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9500C>A (p.Pro3167Gln) single nucleotide variant Inborn genetic diseases [RCV003351472] Chr17:18161430 [GRCh38]
Chr17:18064744 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6076G>A (p.Ala2026Thr) single nucleotide variant Inborn genetic diseases [RCV003355152] Chr17:18143899 [GRCh38]
Chr17:18047213 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6093_6100del (p.Arg2032fs) deletion not provided [RCV003543680] Chr17:18143910..18143917 [GRCh38]
Chr17:18047224..18047231 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7770C>G (p.Gly2590=) single nucleotide variant not provided [RCV003874469] Chr17:18151510 [GRCh38]
Chr17:18054824 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4207-20C>A single nucleotide variant not provided [RCV003570788] Chr17:18132433 [GRCh38]
Chr17:18035747 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3761_3764dup (p.Gly1256fs) microsatellite not provided [RCV003569987] Chr17:18126346..18126347 [GRCh38]
Chr17:18029660..18029661 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9733C>T (p.Leu3245=) single nucleotide variant not provided [RCV003873088] Chr17:18163784 [GRCh38]
Chr17:18067098 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3610-9C>G single nucleotide variant not provided [RCV003569400] Chr17:18124474 [GRCh38]
Chr17:18027788 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6708C>T (p.Cys2236=) single nucleotide variant not provided [RCV003571105] Chr17:18148512 [GRCh38]
Chr17:18051826 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1564del (p.Val522fs) deletion not provided [RCV003571219] Chr17:18120363 [GRCh38]
Chr17:18023677 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9882G>A (p.Arg3294=) single nucleotide variant not provided [RCV003875239] Chr17:18166455 [GRCh38]
Chr17:18069769 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7967-1G>C single nucleotide variant not provided [RCV003571322] Chr17:18153774 [GRCh38]
Chr17:18057088 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7473+18A>G single nucleotide variant not provided [RCV003686333] Chr17:18150931 [GRCh38]
Chr17:18054245 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6081T>A (p.Pro2027=) single nucleotide variant not provided [RCV003712530] Chr17:18143904 [GRCh38]
Chr17:18047218 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2778C>G (p.Ala926=) single nucleotide variant not provided [RCV003570478] Chr17:18121578 [GRCh38]
Chr17:18024892 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2733A>G (p.Arg911=) single nucleotide variant not provided [RCV003543369] Chr17:18121533 [GRCh38]
Chr17:18024847 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9673A>G (p.Lys3225Glu) single nucleotide variant not provided [RCV003543762] Chr17:18163304 [GRCh38]
Chr17:18066618 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1011C>T (p.His337=) single nucleotide variant not provided [RCV003873475] Chr17:18119811 [GRCh38]
Chr17:18023125 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7893+9G>A single nucleotide variant not provided [RCV003569832] Chr17:18151960 [GRCh38]
Chr17:18055274 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8602-8T>C single nucleotide variant not provided [RCV003570366] Chr17:18156946 [GRCh38]
Chr17:18060260 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8967+19G>A single nucleotide variant not provided [RCV003570294] Chr17:18157919 [GRCh38]
Chr17:18061233 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1938G>A (p.Ala646=) single nucleotide variant not provided [RCV003571163] Chr17:18120738 [GRCh38]
Chr17:18024052 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2475C>A (p.Ala825=) single nucleotide variant not provided [RCV003571165] Chr17:18121275 [GRCh38]
Chr17:18024589 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3140_3141del (p.Pro1047fs) deletion not provided [RCV003571296] Chr17:18121936..18121937 [GRCh38]
Chr17:18025250..18025251 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3693-12G>C single nucleotide variant not provided [RCV003571469] Chr17:18125156 [GRCh38]
Chr17:18028470 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2358C>T (p.Leu786=) single nucleotide variant not provided [RCV003712433] Chr17:18121158 [GRCh38]
Chr17:18024472 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7976C>A (p.Ser2659Ter) single nucleotide variant not provided [RCV003571817] Chr17:18153784 [GRCh38]
Chr17:18057098 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8149-17A>T single nucleotide variant not provided [RCV003569950] Chr17:18154663 [GRCh38]
Chr17:18057977 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7327+19T>G single nucleotide variant not provided [RCV003686254] Chr17:18150562 [GRCh38]
Chr17:18053876 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2334C>T (p.Pro778=) single nucleotide variant not provided [RCV003570807] Chr17:18121134 [GRCh38]
Chr17:18024448 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1 copy number loss not provided [RCV003483314] Chr17:15694772..20582794 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_016239.4(MYO15A):c.8788+11C>T single nucleotide variant not provided [RCV003570878] Chr17:18157241 [GRCh38]
Chr17:18060555 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1257G>A (p.Pro419=) single nucleotide variant not provided [RCV003570602] Chr17:18120057 [GRCh38]
Chr17:18023371 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3193C>T (p.Leu1065=) single nucleotide variant not provided [RCV003570924] Chr17:18121993 [GRCh38]
Chr17:18025307 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6339C>T (p.Ile2113=) single nucleotide variant not provided [RCV003875354] Chr17:18145937 [GRCh38]
Chr17:18049251 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4207-18C>G single nucleotide variant not provided [RCV003570934] Chr17:18132435 [GRCh38]
Chr17:18035749 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6957-1G>A single nucleotide variant not provided [RCV003571642] Chr17:18149215 [GRCh38]
Chr17:18052529 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.2502C>A (p.Gly834=) single nucleotide variant not provided [RCV003686097] Chr17:18121302 [GRCh38]
Chr17:18024616 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5136G>T (p.Val1712=) single nucleotide variant not provided [RCV003712565] Chr17:18139536 [GRCh38]
Chr17:18042850 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9864C>T (p.Gly3288=) single nucleotide variant not provided [RCV003570754] Chr17:18166437 [GRCh38]
Chr17:18069751 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4039-2A>G single nucleotide variant not provided [RCV003571012] Chr17:18131237 [GRCh38]
Chr17:18034551 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.1692C>G (p.Pro564=) single nucleotide variant not provided [RCV003571583] Chr17:18120492 [GRCh38]
Chr17:18023806 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7061del (p.Asn2354fs) deletion not provided [RCV003686191] Chr17:18149319 [GRCh38]
Chr17:18052633 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2007C>A (p.Pro669=) single nucleotide variant not provided [RCV003686326] Chr17:18120807 [GRCh38]
Chr17:18024121 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5406+10A>G single nucleotide variant not provided [RCV003543570] Chr17:18140842 [GRCh38]
Chr17:18044156 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5911-18A>T single nucleotide variant not provided [RCV003543571] Chr17:18143548 [GRCh38]
Chr17:18046862 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6668C>G (p.Ala2223Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003494509] Chr17:18148187 [GRCh38]
Chr17:18051501 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.4320+7G>A single nucleotide variant not provided [RCV003872642] Chr17:18132573 [GRCh38]
Chr17:18035887 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7966+16G>A single nucleotide variant not provided [RCV003712607] Chr17:18152200 [GRCh38]
Chr17:18055514 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6514del (p.Val2172fs) deletion not provided [RCV003569193] Chr17:18148033 [GRCh38]
Chr17:18051347 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2902C>T (p.Leu968=) single nucleotide variant not provided [RCV003872934] Chr17:18121702 [GRCh38]
Chr17:18025016 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6367C>T (p.Leu2123=) single nucleotide variant not provided [RCV003872953] Chr17:18145965 [GRCh38]
Chr17:18049279 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6692-18G>T single nucleotide variant not provided [RCV003569777] Chr17:18148478 [GRCh38]
Chr17:18051792 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.232dup (p.Thr78fs) duplication not provided [RCV003570018] Chr17:18119031..18119032 [GRCh38]
Chr17:18022345..18022346 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9084-19C>T single nucleotide variant not provided [RCV003571790] Chr17:18158906 [GRCh38]
Chr17:18062220 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9756T>C (p.Asn3252=) single nucleotide variant not provided [RCV003569498] Chr17:18163807 [GRCh38]
Chr17:18067121 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1 copy number loss not provided [RCV003483315] Chr17:16651293..20450566 [GRCh37]
Chr17:17p11.2
pathogenic
Single allele duplication not provided [RCV003448668] Chr17:16757513..18772328 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.749C>G (p.Ser250Ter) single nucleotide variant not provided [RCV003569047] Chr17:18119549 [GRCh38]
Chr17:18022863 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2088C>T (p.Ser696=) single nucleotide variant not provided [RCV003872604] Chr17:18120888 [GRCh38]
Chr17:18024202 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 3 [RCV003484515] Chr17:18148512 [GRCh38]
Chr17:18051826 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.343del (p.Arg115fs) deletion Autosomal recessive nonsyndromic hearing loss 3 [RCV003484514] Chr17:18119142 [GRCh38]
Chr17:18022456 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.5424G>A (p.Glu1808=) single nucleotide variant not provided [RCV003428176] Chr17:18141036 [GRCh38]
Chr17:18044350 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.151G>A (p.Gly51Ser) single nucleotide variant not provided [RCV003441264] Chr17:18118951 [GRCh38]
Chr17:18022265 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.1581C>T (p.Tyr527=) single nucleotide variant not provided [RCV003428175] Chr17:18120381 [GRCh38]
Chr17:18023695 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9612+1G>A single nucleotide variant MYO15A-related condition [RCV003406217] Chr17:18162680 [GRCh38]
Chr17:18065994 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.8371G>A (p.Ala2791Thr) single nucleotide variant not provided [RCV003480233] Chr17:18155344 [GRCh38]
Chr17:18058658 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.9341dup (p.Tyr3114Ter) duplication Autosomal recessive nonsyndromic hearing loss 3 [RCV003388787] Chr17:18159971..18159972 [GRCh38]
Chr17:18063285..18063286 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.484_488delinsACTT (p.Arg162fs) indel MYO15A-related condition [RCV003408510]|not provided [RCV003481499] Chr17:18119284..18119288 [GRCh38]
Chr17:18022598..18022602 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.4520G>A (p.Arg1507Gln) single nucleotide variant not provided [RCV003441347] Chr17:18135748 [GRCh38]
Chr17:18039062 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.5945C>T (p.Ala1982Val) single nucleotide variant not provided [RCV003441454] Chr17:18143600 [GRCh38]
Chr17:18046914 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.10192C>T (p.His3398Tyr) single nucleotide variant MYO15A-related condition [RCV003414231] Chr17:18171747 [GRCh38]
Chr17:18075061 [GRCh37]
Chr17:17p11.2
likely benign|uncertain significance
NM_016239.4(MYO15A):c.1529C>A (p.Ala510Glu) single nucleotide variant not provided [RCV003413163] Chr17:18120329 [GRCh38]
Chr17:18023643 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.3840C>T (p.Asn1280=) single nucleotide variant not provided [RCV003413164] Chr17:18126430 [GRCh38]
Chr17:18029744 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4423dup (p.Ile1475fs) duplication not provided [RCV003413165] Chr17:18133326..18133327 [GRCh38]
Chr17:18036640..18036641 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8319C>T (p.Phe2773=) single nucleotide variant not provided [RCV003413166] Chr17:18155204 [GRCh38]
Chr17:18058518 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.879C>G (p.Asp293Glu) single nucleotide variant not provided [RCV003442556] Chr17:18119679 [GRCh38]
Chr17:18022993 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.374G>A (p.Arg125Gln) single nucleotide variant not provided [RCV003428174] Chr17:18119174 [GRCh38]
Chr17:18022488 [GRCh37]
Chr17:17p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016239.4(MYO15A):c.9107A>G (p.Lys3036Arg) single nucleotide variant MYO15A-related condition [RCV003420834] Chr17:18158948 [GRCh38]
Chr17:18062262 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.2046G>C (p.Pro682=) single nucleotide variant not provided [RCV003572361] Chr17:18120846 [GRCh38]
Chr17:18024160 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2526C>A (p.Gly842=) single nucleotide variant not provided [RCV003659906] Chr17:18121326 [GRCh38]
Chr17:18024640 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9304-10C>G single nucleotide variant not provided [RCV003573750] Chr17:18159925 [GRCh38]
Chr17:18063239 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8089-10G>A single nucleotide variant not provided [RCV003544541] Chr17:18154121 [GRCh38]
Chr17:18057435 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5667C>T (p.His1889=) single nucleotide variant not provided [RCV003687110] Chr17:18142096 [GRCh38]
Chr17:18045410 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1977G>A (p.Ala659=) single nucleotide variant not provided [RCV003661565] Chr17:18120777 [GRCh38]
Chr17:18024091 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3692+17G>T single nucleotide variant not provided [RCV003687113] Chr17:18124582 [GRCh38]
Chr17:18027896 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6156G>A (p.Lys2052=) single nucleotide variant not provided [RCV003663098] Chr17:18143979 [GRCh38]
Chr17:18047293 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5910+13C>T single nucleotide variant not provided [RCV003824581] Chr17:18142853 [GRCh38]
Chr17:18046167 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5838del (p.Gln1946fs) deletion not provided [RCV003662038] Chr17:18142768 [GRCh38]
Chr17:18046082 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.2461C>T (p.Gln821Ter) single nucleotide variant not provided [RCV003824750] Chr17:18121261 [GRCh38]
Chr17:18024575 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9303+14A>G single nucleotide variant not provided [RCV003573085] Chr17:18159693 [GRCh38]
Chr17:18063007 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1578_1585del (p.Tyr527fs) deletion not provided [RCV003574629] Chr17:18120375..18120382 [GRCh38]
Chr17:18023689..18023696 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3912T>C (p.Asp1304=) single nucleotide variant not provided [RCV003543862] Chr17:18126836 [GRCh38]
Chr17:18030150 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4320+1G>C single nucleotide variant not provided [RCV003572114] Chr17:18132567 [GRCh38]
Chr17:18035881 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9915G>A (p.Glu3305=) single nucleotide variant not provided [RCV003575954] Chr17:18166488 [GRCh38]
Chr17:18069802 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5673C>T (p.Tyr1891=) single nucleotide variant not provided [RCV003572101] Chr17:18142102 [GRCh38]
Chr17:18045416 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.300G>A (p.Lys100=) single nucleotide variant not provided [RCV003714255] Chr17:18119100 [GRCh38]
Chr17:18022414 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.438C>A (p.Ala146=) single nucleotide variant not provided [RCV003714266] Chr17:18119238 [GRCh38]
Chr17:18022552 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10326C>T (p.Leu3442=) single nucleotide variant not provided [RCV003661152] Chr17:18172266 [GRCh38]
Chr17:18075580 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4780-20C>T single nucleotide variant not provided [RCV003662453] Chr17:18137564 [GRCh38]
Chr17:18040878 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7704C>T (p.His2568=) single nucleotide variant not provided [RCV003659758] Chr17:18151444 [GRCh38]
Chr17:18054758 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9564C>T (p.Phe3188=) single nucleotide variant not provided [RCV003545473] Chr17:18162631 [GRCh38]
Chr17:18065945 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9597G>A (p.Glu3199=) single nucleotide variant not provided [RCV003715000] Chr17:18162664 [GRCh38]
Chr17:18065978 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10272C>T (p.Cys3424=) single nucleotide variant not provided [RCV003547563] Chr17:18172212 [GRCh38]
Chr17:18075526 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.33C>G (p.Ala11=) single nucleotide variant not provided [RCV003573716] Chr17:18118833 [GRCh38]
Chr17:18022147 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7500G>A (p.Pro2500=) single nucleotide variant not provided [RCV003715087] Chr17:18151136 [GRCh38]
Chr17:18054450 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.507C>G (p.Ser169=) single nucleotide variant not provided [RCV003659851] Chr17:18119307 [GRCh38]
Chr17:18022621 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9183A>G (p.Glu3061=) single nucleotide variant not provided [RCV003713077] Chr17:18159301 [GRCh38]
Chr17:18062615 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5787C>A (p.Ile1929=) single nucleotide variant not provided [RCV003824682] Chr17:18142216 [GRCh38]
Chr17:18045530 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9534C>T (p.Cys3178=) single nucleotide variant not provided [RCV003545015] Chr17:18162601 [GRCh38]
Chr17:18065915 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5649+1_5649+3del deletion not provided [RCV003573176] Chr17:18141770..18141772 [GRCh38]
Chr17:18045084..18045086 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.6573C>T (p.Ala2191=) single nucleotide variant not provided [RCV003573137] Chr17:18148092 [GRCh38]
Chr17:18051406 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4864C>T (p.Gln1622Ter) single nucleotide variant not provided [RCV003689205] Chr17:18137668 [GRCh38]
Chr17:18040982 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1299C>G (p.Ala433=) single nucleotide variant not provided [RCV003663294] Chr17:18120099 [GRCh38]
Chr17:18023413 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9083+14C>G single nucleotide variant not provided [RCV003686988] Chr17:18158652 [GRCh38]
Chr17:18061966 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9083+18C>A single nucleotide variant not provided [RCV003546390] Chr17:18158656 [GRCh38]
Chr17:18061970 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3207C>T (p.Asp1069=) single nucleotide variant not provided [RCV003689146] Chr17:18122007 [GRCh38]
Chr17:18025321 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7788-11A>C single nucleotide variant not provided [RCV003575301] Chr17:18151835 [GRCh38]
Chr17:18055149 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2403G>A (p.Leu801=) single nucleotide variant not provided [RCV003660687] Chr17:18121203 [GRCh38]
Chr17:18024517 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10350+19G>A single nucleotide variant not provided [RCV003573198] Chr17:18172309 [GRCh38]
Chr17:18075623 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.756C>T (p.His252=) single nucleotide variant not provided [RCV003547321] Chr17:18119556 [GRCh38]
Chr17:18022870 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4422C>T (p.Ser1474=) single nucleotide variant not provided [RCV003547787] Chr17:18133326 [GRCh38]
Chr17:18036640 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8968-12C>T single nucleotide variant not provided [RCV003545911] Chr17:18158511 [GRCh38]
Chr17:18061825 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.27G>A (p.Lys9=) single nucleotide variant not provided [RCV003877948] Chr17:18118827 [GRCh38]
Chr17:18022141 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2874T>C (p.Pro958=) single nucleotide variant not provided [RCV003544578] Chr17:18121674 [GRCh38]
Chr17:18024988 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6046+12C>G single nucleotide variant not provided [RCV003688549] Chr17:18143808 [GRCh38]
Chr17:18047122 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6880A>C (p.Arg2294=) single nucleotide variant not provided [RCV003547904] Chr17:18148876 [GRCh38]
Chr17:18052190 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2007C>G (p.Pro669=) single nucleotide variant not provided [RCV003686416] Chr17:18120807 [GRCh38]
Chr17:18024121 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1386C>T (p.Gly462=) single nucleotide variant not provided [RCV003714096] Chr17:18120186 [GRCh38]
Chr17:18023500 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3866+11C>T single nucleotide variant not provided [RCV003877275] Chr17:18126467 [GRCh38]
Chr17:18029781 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9157-1G>A single nucleotide variant not provided [RCV003689975] Chr17:18159274 [GRCh38]
Chr17:18062588 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.7992C>T (p.Pro2664=) single nucleotide variant not provided [RCV003660277] Chr17:18153800 [GRCh38]
Chr17:18057114 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2052C>A (p.Leu684=) single nucleotide variant not provided [RCV003663514] Chr17:18120852 [GRCh38]
Chr17:18024166 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3941+8G>A single nucleotide variant not provided [RCV003713032] Chr17:18126873 [GRCh38]
Chr17:18030187 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+8GT[14] microsatellite not provided [RCV003545875] Chr17:18130818..18130843 [GRCh38]
Chr17:18034132..18034157 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7516G>A (p.Gly2506Ser) single nucleotide variant not provided [RCV003824794] Chr17:18151152 [GRCh38]
Chr17:18054466 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2274C>T (p.Pro758=) single nucleotide variant not provided [RCV003714714] Chr17:18121074 [GRCh38]
Chr17:18024388 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4039-16T>C single nucleotide variant not provided [RCV003574653] Chr17:18131223 [GRCh38]
Chr17:18034537 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9948+7A>C single nucleotide variant not provided [RCV003686986] Chr17:18166528 [GRCh38]
Chr17:18069842 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5406+18C>T single nucleotide variant not provided [RCV003661554] Chr17:18140850 [GRCh38]
Chr17:18044164 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8400G>A (p.Leu2800=) single nucleotide variant not provided [RCV003688523] Chr17:18155373 [GRCh38]
Chr17:18058687 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10137G>C (p.Ser3379=) single nucleotide variant not provided [RCV003878742] Chr17:18171692 [GRCh38]
Chr17:18075006 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8967+11T>C single nucleotide variant not provided [RCV003662364] Chr17:18157911 [GRCh38]
Chr17:18061225 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.121del (p.Arg41fs) deletion not provided [RCV003824958] Chr17:18118920 [GRCh38]
Chr17:18022234 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6456C>T (p.Ala2152=) single nucleotide variant not provided [RCV003713369] Chr17:18146054 [GRCh38]
Chr17:18049368 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6959dup (p.Phe2321fs) duplication not provided [RCV003545928] Chr17:18149217..18149218 [GRCh38]
Chr17:18052531..18052532 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9678C>T (p.Ile3226=) single nucleotide variant not provided [RCV003716086] Chr17:18163309 [GRCh38]
Chr17:18066623 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2395C>T (p.Leu799=) single nucleotide variant not provided [RCV003659652] Chr17:18121195 [GRCh38]
Chr17:18024509 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9480C>G (p.Leu3160=) single nucleotide variant not provided [RCV003714953] Chr17:18161410 [GRCh38]
Chr17:18064724 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4662C>T (p.Ala1554=) single nucleotide variant not provided [RCV003878814] Chr17:18136569 [GRCh38]
Chr17:18039883 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7707C>T (p.Phe2569=) single nucleotide variant not provided [RCV003878822] Chr17:18151447 [GRCh38]
Chr17:18054761 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6957-2A>C single nucleotide variant not provided [RCV003663051] Chr17:18149214 [GRCh38]
Chr17:18052528 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.5427A>G (p.Pro1809=) single nucleotide variant not provided [RCV003712973] Chr17:18141039 [GRCh38]
Chr17:18044353 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2802T>G (p.Pro934=) single nucleotide variant not provided [RCV003662450] Chr17:18121602 [GRCh38]
Chr17:18024916 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5370C>T (p.Pro1790=) single nucleotide variant not provided [RCV003687948] Chr17:18140796 [GRCh38]
Chr17:18044110 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5360+18T>G single nucleotide variant not provided [RCV003715005] Chr17:18140683 [GRCh38]
Chr17:18043997 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2224C>T (p.Arg742Ter) single nucleotide variant not provided [RCV003544396] Chr17:18121024 [GRCh38]
Chr17:18024338 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6645G>A (p.Ala2215=) single nucleotide variant not provided [RCV003713303] Chr17:18148164 [GRCh38]
Chr17:18051478 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1713G>A (p.Ser571=) single nucleotide variant not provided [RCV003876380] Chr17:18120513 [GRCh38]
Chr17:18023827 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.666G>C (p.Ser222=) single nucleotide variant not provided [RCV003660062] Chr17:18119466 [GRCh38]
Chr17:18022780 [GRCh37]
Chr17:17p11.2
benign
NM_016239.4(MYO15A):c.8968-8T>G single nucleotide variant not provided [RCV003544635] Chr17:18158515 [GRCh38]
Chr17:18061829 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6948C>A (p.Gly2316=) single nucleotide variant not provided [RCV003714409] Chr17:18148944 [GRCh38]
Chr17:18052258 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10452C>T (p.Asp3484=) single nucleotide variant not provided [RCV003878311] Chr17:18173882 [GRCh38]
Chr17:18077196 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7655-11C>T single nucleotide variant not provided [RCV003660427] Chr17:18151384 [GRCh38]
Chr17:18054698 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8088+10A>G single nucleotide variant not provided [RCV003713697] Chr17:18153906 [GRCh38]
Chr17:18057220 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3060C>T (p.Asp1020=) single nucleotide variant not provided [RCV003879073] Chr17:18121860 [GRCh38]
Chr17:18025174 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1884G>A (p.Leu628=) single nucleotide variant not provided [RCV003575208] Chr17:18120684 [GRCh38]
Chr17:18023998 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1299C>T (p.Ala433=) single nucleotide variant not provided [RCV003687514] Chr17:18120099 [GRCh38]
Chr17:18023413 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.33C>T (p.Ala11=) single nucleotide variant not provided [RCV003877704] Chr17:18118833 [GRCh38]
Chr17:18022147 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8602-16C>A single nucleotide variant not provided [RCV003662148] Chr17:18156938 [GRCh38]
Chr17:18060252 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4146C>T (p.Gly1382=) single nucleotide variant not provided [RCV003879049] Chr17:18131471 [GRCh38]
Chr17:18034785 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9676dup (p.Ile3226fs) duplication not provided [RCV003716475] Chr17:18163303..18163304 [GRCh38]
Chr17:18066617..18066618 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9948+1G>A single nucleotide variant not provided [RCV003545038] Chr17:18166522 [GRCh38]
Chr17:18069836 [GRCh37]
Chr17:17p11.2
likely pathogenic
NM_016239.4(MYO15A):c.5870_5876del (p.Ser1957fs) deletion not provided [RCV003574632] Chr17:18142797..18142803 [GRCh38]
Chr17:18046111..18046117 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1195T>C (p.Tyr399His) single nucleotide variant not provided [RCV003572522] Chr17:18119995 [GRCh38]
Chr17:18023309 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4906C>T (p.Gln1636Ter) single nucleotide variant not provided [RCV003575201] Chr17:18138145 [GRCh38]
Chr17:18041459 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7056C>T (p.Ser2352=) single nucleotide variant not provided [RCV003572377] Chr17:18149315 [GRCh38]
Chr17:18052629 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5911-18A>G single nucleotide variant not provided [RCV003544347] Chr17:18143548 [GRCh38]
Chr17:18046862 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7336C>T (p.Leu2446=) single nucleotide variant not provided [RCV003663190] Chr17:18150706 [GRCh38]
Chr17:18054020 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9787+12G>A single nucleotide variant not provided [RCV003824808] Chr17:18163850 [GRCh38]
Chr17:18067164 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5335C>T (p.Leu1779=) single nucleotide variant not provided [RCV003661518] Chr17:18140640 [GRCh38]
Chr17:18043954 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10047G>A (p.Gln3349=) single nucleotide variant not provided [RCV003544346] Chr17:18167688 [GRCh38]
Chr17:18071002 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9604G>A (p.Ala3202Thr) single nucleotide variant not provided [RCV003877684] Chr17:18162671 [GRCh38]
Chr17:18065985 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_016239.4(MYO15A):c.6510-13T>C single nucleotide variant not provided [RCV003714742] Chr17:18148016 [GRCh38]
Chr17:18051330 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2384del (p.Pro795fs) deletion not provided [RCV003572830] Chr17:18121180 [GRCh38]
Chr17:18024494 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.6055C>T (p.Leu2019=) single nucleotide variant not provided [RCV003546427] Chr17:18143878 [GRCh38]
Chr17:18047192 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8788+19G>A single nucleotide variant not provided [RCV003714827] Chr17:18157249 [GRCh38]
Chr17:18060563 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3692+14del deletion not provided [RCV003574429] Chr17:18124577 [GRCh38]
Chr17:18027891 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.489G>A (p.Ser163=) single nucleotide variant not provided [RCV003824428] Chr17:18119289 [GRCh38]
Chr17:18022603 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3015T>C (p.Ala1005=) single nucleotide variant not provided [RCV003689973] Chr17:18121815 [GRCh38]
Chr17:18025129 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2446del (p.Arg816fs) deletion not provided [RCV003690368] Chr17:18121245 [GRCh38]
Chr17:18024559 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9083dup (p.Asp3029fs) duplication not provided [RCV003687476] Chr17:18158637..18158638 [GRCh38]
Chr17:18061951..18061952 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7655-18C>G single nucleotide variant not provided [RCV003688299] Chr17:18151377 [GRCh38]
Chr17:18054691 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4930C>T (p.Gln1644Ter) single nucleotide variant not provided [RCV003715332] Chr17:18138169 [GRCh38]
Chr17:18041483 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4038+9T>A single nucleotide variant not provided [RCV003715747] Chr17:18130819 [GRCh38]
Chr17:18034133 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5406+16G>C single nucleotide variant not provided [RCV003689982] Chr17:18140848 [GRCh38]
Chr17:18044162 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8862C>T (p.Pro2954=) single nucleotide variant not provided [RCV003716485] Chr17:18157795 [GRCh38]
Chr17:18061109 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9948+10C>T single nucleotide variant not provided [RCV003824851] Chr17:18166531 [GRCh38]
Chr17:18069845 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8079G>T (p.Leu2693=) single nucleotide variant not provided [RCV003687122] Chr17:18153887 [GRCh38]
Chr17:18057201 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.609G>C (p.Leu203=) single nucleotide variant not provided [RCV003574547] Chr17:18119409 [GRCh38]
Chr17:18022723 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.969G>C (p.Ser323=) single nucleotide variant not provided [RCV003662801] Chr17:18119769 [GRCh38]
Chr17:18023083 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4983T>G (p.Leu1661=) single nucleotide variant not provided [RCV003547788] Chr17:18138222 [GRCh38]
Chr17:18041536 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.519C>T (p.Pro173=) single nucleotide variant not provided [RCV003876984] Chr17:18119319 [GRCh38]
Chr17:18022633 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1119A>G (p.Gly373=) single nucleotide variant not provided [RCV003574562] Chr17:18119919 [GRCh38]
Chr17:18023233 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6791G>A (p.Trp2264Ter) single nucleotide variant not provided [RCV003690338] Chr17:18148787 [GRCh38]
Chr17:18052101 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.4038+8GT[38] microsatellite not provided [RCV003660438] Chr17:18130817..18130818 [GRCh38]
Chr17:18034131..18034132 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7920G>A (p.Val2640=) single nucleotide variant not provided [RCV003544813] Chr17:18152138 [GRCh38]
Chr17:18055452 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5676G>A (p.Gln1892=) single nucleotide variant not provided [RCV003574644] Chr17:18142105 [GRCh38]
Chr17:18045419 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7422G>A (p.Thr2474=) single nucleotide variant not provided [RCV003878620] Chr17:18150862 [GRCh38]
Chr17:18054176 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8862del (p.Asp2955fs) deletion not provided [RCV003689329] Chr17:18157791 [GRCh38]
Chr17:18061105 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.8973C>T (p.Pro2991=) single nucleotide variant not provided [RCV003662259] Chr17:18158528 [GRCh38]
Chr17:18061842 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3675G>A (p.Glu1225=) single nucleotide variant not provided [RCV003689854] Chr17:18124548 [GRCh38]
Chr17:18027862 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2588dup (p.Asn863fs) duplication not provided [RCV003547407] Chr17:18121386..18121387 [GRCh38]
Chr17:18024700..18024701 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.3866+16G>T single nucleotide variant not provided [RCV003687549] Chr17:18126472 [GRCh38]
Chr17:18029786 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7967-17A>G single nucleotide variant not provided [RCV003662116] Chr17:18153758 [GRCh38]
Chr17:18057072 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6509+12T>C single nucleotide variant not provided [RCV003663073] Chr17:18146119 [GRCh38]
Chr17:18049433 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10492-9C>T single nucleotide variant not provided [RCV003716514] Chr17:18178760 [GRCh38]
Chr17:18082074 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3867-14A>T single nucleotide variant not provided [RCV003574682] Chr17:18126777 [GRCh38]
Chr17:18030091 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9990G>A (p.Pro3330=) single nucleotide variant not provided [RCV003877143] Chr17:18167631 [GRCh38]
Chr17:18070945 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7893+13G>A single nucleotide variant not provided [RCV003687722] Chr17:18151964 [GRCh38]
Chr17:18055278 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8089-11C>T single nucleotide variant not provided [RCV003662186] Chr17:18154120 [GRCh38]
Chr17:18057434 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7335C>T (p.Gly2445=) single nucleotide variant not provided [RCV003824957] Chr17:18150705 [GRCh38]
Chr17:18054019 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6579_6582dup (p.Ala2195fs) duplication not provided [RCV003543908] Chr17:18148095..18148096 [GRCh38]
Chr17:18051409..18051410 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.9519G>T (p.Gly3173=) single nucleotide variant not provided [RCV003715360] Chr17:18162586 [GRCh38]
Chr17:18065900 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6691+16C>T single nucleotide variant not provided [RCV003715416] Chr17:18148226 [GRCh38]
Chr17:18051540 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9009C>T (p.Asp3003=) single nucleotide variant not provided [RCV003877428] Chr17:18158564 [GRCh38]
Chr17:18061878 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.6754_6755del (p.Leu2252fs) deletion not provided [RCV003545064] Chr17:18148557..18148558 [GRCh38]
Chr17:18051871..18051872 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.1737G>C (p.Thr579=) single nucleotide variant not provided [RCV003573383] Chr17:18120537 [GRCh38]
Chr17:18023851 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4321-6A>T single nucleotide variant not provided [RCV003690495] Chr17:18133219 [GRCh38]
Chr17:18036533 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.10492-16T>C single nucleotide variant not provided [RCV003712895] Chr17:18178753 [GRCh38]
Chr17:18082067 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.390G>A (p.Ala130=) single nucleotide variant not provided [RCV003689450] Chr17:18119190 [GRCh38]
Chr17:18022504 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.7213-13_7213-10del microsatellite not provided [RCV003659757] Chr17:18150412..18150415 [GRCh38]
Chr17:18053726..18053729 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3492T>C (p.Tyr1164=) single nucleotide variant not provided [RCV003714177] Chr17:18122292 [GRCh38]
Chr17:18025606 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1404G>A (p.Arg468=) single nucleotide variant not provided [RCV003716175] Chr17:18120204 [GRCh38]
Chr17:18023518 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8713+14G>C single nucleotide variant not provided [RCV003879937] Chr17:18157079 [GRCh38]
Chr17:18060393 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.9342C>T (p.Tyr3114=) single nucleotide variant not provided [RCV003571900] Chr17:18159973 [GRCh38]
Chr17:18063287 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8368C>T (p.Leu2790=) single nucleotide variant not provided [RCV003714048] Chr17:18155341 [GRCh38]
Chr17:18058655 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4207-5T>G single nucleotide variant not provided [RCV003878145] Chr17:18132448 [GRCh38]
Chr17:18035762 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.498C>G (p.Arg166=) single nucleotide variant not provided [RCV003659745] Chr17:18119298 [GRCh38]
Chr17:18022612 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.3692+17G>A single nucleotide variant not provided [RCV003877488] Chr17:18124582 [GRCh38]
Chr17:18027896 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8961G>A (p.Arg2987=) single nucleotide variant not provided [RCV003662480] Chr17:18157894 [GRCh38]
Chr17:18061208 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.5212-12A>T single nucleotide variant not provided [RCV003686810] Chr17:18140505 [GRCh38]
Chr17:18043819 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2169G>A (p.Glu723=) single nucleotide variant not provided [RCV003543970] Chr17:18120969 [GRCh38]
Chr17:18024283 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1444C>T (p.Arg482Ter) single nucleotide variant not provided [RCV003661313] Chr17:18120244 [GRCh38]
Chr17:18023558 [GRCh37]
Chr17:17p11.2
pathogenic
NM_016239.4(MYO15A):c.7296C>T (p.Asp2432=) single nucleotide variant not provided [RCV003544281] Chr17:18150512 [GRCh38]
Chr17:18053826 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.8225-15C>A single nucleotide variant not provided [RCV003712894] Chr17:18155095 [GRCh38]
Chr17:18058409 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.1935C>T (p.Pro645=) single nucleotide variant not provided [RCV003662569] Chr17:18120735 [GRCh38]
Chr17:18024049 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.4038+20dup duplication not provided [RCV003661301] Chr17:18130829..18130830 [GRCh38]
Chr17:18034143..18034144 [GRCh37]
Chr17:17p11.2
likely benign
NM_016239.4(MYO15A):c.2232G>A (p.Ser744=) single nucleotide variant not provided [RCV003714486] Chr17:18121032 [GRCh38]
Chr17:18024346 [GRCh37]
Chr17:17p11.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4675
Count of miRNA genes:1190
Interacting mature miRNAs:1530
Transcripts:ENST00000205890, ENST00000412324, ENST00000418233, ENST00000433411, ENST00000445289, ENST00000451725, ENST00000473013, ENST00000536811, ENST00000556535, ENST00000557190, ENST00000557655, ENST00000578472, ENST00000578575, ENST00000578999, ENST00000579848, ENST00000583079, ENST00000585180
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
WI-13499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,011,124 - 18,011,274UniSTSGRCh37
Build 361717,951,849 - 17,951,999RGDNCBI36
Celera1718,952,264 - 18,952,414RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,764,496 - 17,764,646UniSTS
Whitehead-RH Map17162.7UniSTS
RH78569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,075,701 - 18,075,828UniSTSGRCh37
Build 361718,016,426 - 18,016,553RGDNCBI36
Celera1719,016,822 - 19,016,949RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,829,036 - 17,829,163UniSTS
GeneMap99-GB4 RH Map17103.59UniSTS
RH65958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,010,480 - 18,010,628UniSTSGRCh37
Build 361717,951,205 - 17,951,353RGDNCBI36
Celera1718,951,620 - 18,951,768RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,763,852 - 17,764,000UniSTS
GeneMap99-GB4 RH Map17104.75UniSTS
DRG2__4773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,010,671 - 18,011,328UniSTSGRCh37
Build 361717,951,396 - 17,952,053RGDNCBI36
Celera1718,951,811 - 18,952,468RGD
HuRef1717,764,043 - 17,764,700UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
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Cytogenetic Map2q11.2UniSTS
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Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 271 2 271 138 5 1 1
Low 1320 1258 848 274 292 193 1832 785 2170 64 1039 1132 82 522 1391
Below cutoff 1060 1715 560 306 1564 229 2481 1392 1243 304 236 430 86 681 1396 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB838999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF144094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000412324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,139,274 - 18,142,137 (+)Ensembl
RefSeq Acc Id: ENST00000418233   ⟹   ENSP00000408800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,153,395 - 18,179,222 (+)Ensembl
RefSeq Acc Id: ENST00000433411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,158,346 - 18,179,802 (+)Ensembl
RefSeq Acc Id: ENST00000445289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,154,054 - 18,172,516 (+)Ensembl
RefSeq Acc Id: ENST00000473013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,160,747 - 18,165,110 (+)Ensembl
RefSeq Acc Id: ENST00000536811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,154,054 - 18,157,538 (+)Ensembl
RefSeq Acc Id: ENST00000556535   ⟹   ENSP00000451782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,158,308 - 18,162,665 (+)Ensembl
RefSeq Acc Id: ENST00000557190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,158,308 - 18,163,284 (+)Ensembl
RefSeq Acc Id: ENST00000557655   ⟹   ENSP00000451925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,158,312 - 18,163,251 (+)Ensembl
RefSeq Acc Id: ENST00000578472   ⟹   ENSP00000467989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,158,338 - 18,161,437 (+)Ensembl
RefSeq Acc Id: ENST00000578575   ⟹   ENSP00000466630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,161,368 - 18,178,870 (+)Ensembl
RefSeq Acc Id: ENST00000578999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,146,014 - 18,149,975 (+)Ensembl
RefSeq Acc Id: ENST00000579848   ⟹   ENSP00000465910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,159,662 - 18,178,944 (+)Ensembl
RefSeq Acc Id: ENST00000583079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,119,168 - 18,125,566 (+)Ensembl
RefSeq Acc Id: ENST00000585180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,154,078 - 18,156,269 (+)Ensembl
RefSeq Acc Id: ENST00000615845   ⟹   ENSP00000481642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,108,706 - 18,179,799 (+)Ensembl
RefSeq Acc Id: ENST00000642418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,154,685 - 18,179,730 (+)Ensembl
RefSeq Acc Id: ENST00000643693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,155,916 - 18,179,741 (+)Ensembl
RefSeq Acc Id: ENST00000644795   ⟹   ENSP00000495720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,153,723 - 18,179,741 (+)Ensembl
RefSeq Acc Id: ENST00000646238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,137,841 - 18,139,611 (+)Ensembl
RefSeq Acc Id: ENST00000646782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,153,654 - 18,178,984 (+)Ensembl
RefSeq Acc Id: ENST00000647165   ⟹   ENSP00000495481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,108,756 - 18,179,800 (+)Ensembl
RefSeq Acc Id: ENST00000651088   ⟹   ENSP00000498988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,123,113 - 18,124,565 (+)Ensembl
RefSeq Acc Id: ENST00000651214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,153,663 - 18,179,740 (+)Ensembl
RefSeq Acc Id: NM_016239   ⟹   NP_057323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,108,756 - 18,179,800 (+)NCBI
GRCh371718,012,020 - 18,083,116 (+)ENTREZGENE
Build 361717,952,745 - 18,023,841 (+)NCBI Archive
HuRef1717,765,392 - 17,836,464 (+)ENTREZGENE
CHM1_11718,020,789 - 18,091,861 (+)NCBI
T2T-CHM13v2.01718,055,569 - 18,126,613 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523918   ⟹   XP_011522220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,118,670 - 18,148,102 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024714   ⟹   XP_016880203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,118,670 - 18,179,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024715   ⟹   XP_016880204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,118,670 - 18,179,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450780   ⟹   XP_024306548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,118,670 - 18,145,268 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450781   ⟹   XP_024306549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,118,670 - 18,148,102 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054316345   ⟹   XP_054172320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,065,232 - 18,126,610 (+)NCBI
RefSeq Acc Id: XM_054316346   ⟹   XP_054172321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,065,232 - 18,094,918 (+)NCBI
RefSeq Acc Id: XM_054316347   ⟹   XP_054172322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,065,232 - 18,092,084 (+)NCBI
RefSeq Acc Id: XM_054316348   ⟹   XP_054172323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,065,232 - 18,094,918 (+)NCBI
RefSeq Acc Id: XM_054316349   ⟹   XP_054172324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,065,232 - 18,126,619 (+)NCBI
RefSeq Acc Id: XR_008484826
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,065,232 - 18,090,609 (+)NCBI
RefSeq Acc Id: XR_934039
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,118,670 - 18,143,795 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_057323 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522220 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880203 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880204 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306548 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306549 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172320 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172321 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172322 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172323 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172324 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF05903 (Get FASTA)   NCBI Sequence Viewer  
  BAD92660 (Get FASTA)   NCBI Sequence Viewer  
  BAG57388 (Get FASTA)   NCBI Sequence Viewer  
  BAG59671 (Get FASTA)   NCBI Sequence Viewer  
  BAG60011 (Get FASTA)   NCBI Sequence Viewer  
  BAG60955 (Get FASTA)   NCBI Sequence Viewer  
  BAH13297 (Get FASTA)   NCBI Sequence Viewer  
  CAD28548 (Get FASTA)   NCBI Sequence Viewer  
  CAD97993 (Get FASTA)   NCBI Sequence Viewer  
  EAW55663 (Get FASTA)   NCBI Sequence Viewer  
  EAW55664 (Get FASTA)   NCBI Sequence Viewer  
  EAW55665 (Get FASTA)   NCBI Sequence Viewer  
  EAW55666 (Get FASTA)   NCBI Sequence Viewer  
  EAW55667 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000408800.3
  ENSP00000451782.1
  ENSP00000451925.1
  ENSP00000465910.1
  ENSP00000466630.1
  ENSP00000467989.1
  ENSP00000495481
  ENSP00000495481.1
  ENSP00000495720.1
  ENSP00000498988.1
GenBank Protein Q9UKN7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_057323   ⟸   NM_016239
- UniProtKB: B4DFC7 (UniProtKB/Swiss-Prot),   Q9UKN7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011522220   ⟸   XM_011523918
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016880204   ⟸   XM_017024715
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016880203   ⟸   XM_017024714
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024306549   ⟸   XM_024450781
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024306548   ⟸   XM_024450780
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000451782   ⟸   ENST00000556535
RefSeq Acc Id: ENSP00000451925   ⟸   ENST00000557655
RefSeq Acc Id: ENSP00000498988   ⟸   ENST00000651088
RefSeq Acc Id: ENSP00000408800   ⟸   ENST00000418233
RefSeq Acc Id: ENSP00000481642   ⟸   ENST00000615845
RefSeq Acc Id: ENSP00000466630   ⟸   ENST00000578575
RefSeq Acc Id: ENSP00000467989   ⟸   ENST00000578472
RefSeq Acc Id: ENSP00000465910   ⟸   ENST00000579848
RefSeq Acc Id: ENSP00000495720   ⟸   ENST00000644795
RefSeq Acc Id: ENSP00000495481   ⟸   ENST00000647165
RefSeq Acc Id: XP_054172324   ⟸   XM_054316349
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054172320   ⟸   XM_054316345
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172321   ⟸   XM_054316346
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054172323   ⟸   XM_054316348
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172322   ⟸   XM_054316347
- Peptide Label: isoform X3
Protein Domains
FERM   IQ   Myosin motor   MyTH4   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UKN7-F1-model_v2 AlphaFold Q9UKN7 1-1400 view protein structure
AF-Q9UKN7-F2-model_v2 AlphaFold Q9UKN7 201-1600 view protein structure
AF-Q9UKN7-F3-model_v2 AlphaFold Q9UKN7 401-1800 view protein structure
AF-Q9UKN7-F4-model_v2 AlphaFold Q9UKN7 601-2000 view protein structure
AF-Q9UKN7-F5-model_v2 AlphaFold Q9UKN7 801-2200 view protein structure
AF-Q9UKN7-F6-model_v2 AlphaFold Q9UKN7 1001-2400 view protein structure
AF-Q9UKN7-F7-model_v2 AlphaFold Q9UKN7 1201-2600 view protein structure
AF-Q9UKN7-F8-model_v2 AlphaFold Q9UKN7 1401-2800 view protein structure
AF-Q9UKN7-F9-model_v2 AlphaFold Q9UKN7 1601-3000 view protein structure
AF-Q9UKN7-F10-model_v2 AlphaFold Q9UKN7 1801-3200 view protein structure
AF-Q9UKN7-F11-model_v2 AlphaFold Q9UKN7 2001-3400 view protein structure
AF-Q9UKN7-F12-model_v2 AlphaFold Q9UKN7 2201-3530 view protein structure

Promoters
RGD ID:6794354
Promoter ID:HG_KWN:25233
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:NM_016239,   OTTHUMT00000132048,   UC010CPT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361717,952,301 - 17,953,022 (+)MPROMDB
RGD ID:7234197
Promoter ID:EPDNEW_H22844
Type:initiation region
Name:MYO15A_1
Description:myosin XVA
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,158,296 - 18,158,356EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7594 AgrOrtholog
COSMIC MYO15A COSMIC
Ensembl Genes ENSG00000091536 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000418233.7 UniProtKB/Swiss-Prot
  ENST00000556535.5 UniProtKB/TrEMBL
  ENST00000557655.5 UniProtKB/TrEMBL
  ENST00000578472.5 UniProtKB/TrEMBL
  ENST00000578575.1 UniProtKB/TrEMBL
  ENST00000579848.6 UniProtKB/TrEMBL
  ENST00000644795.1 UniProtKB/TrEMBL
  ENST00000647165 ENTREZGENE
  ENST00000647165.2 UniProtKB/Swiss-Prot
  ENST00000651088.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.820 UniProtKB/Swiss-Prot
  1.20.5.190 UniProtKB/Swiss-Prot
  1.20.58.530 UniProtKB/Swiss-Prot
  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
  6.20.240.20 UniProtKB/Swiss-Prot
  Myosin VI head, motor domain, U50 subdomain UniProtKB/Swiss-Prot
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091536 GTEx
HGNC ID HGNC:7594 ENTREZGENE
Human Proteome Map MYO15A Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot
  IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot
  Kinesin_motor_dom_sf UniProtKB/Swiss-Prot
  Myosin_head_motor_dom UniProtKB/Swiss-Prot
  MyoXV_FERM_C UniProtKB/Swiss-Prot
  MYSc_Myo15 UniProtKB/Swiss-Prot
  MyTH4_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MyTH4_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot
  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
KEGG Report hsa:51168 UniProtKB/Swiss-Prot
NCBI Gene 51168 ENTREZGENE
OMIM 602666 OMIM
PANTHER MYOSIN VII, XV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22692:SF21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_head UniProtKB/Swiss-Prot
  MyTH4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00612 UniProtKB/Swiss-Prot
  SH3_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31395 PharmGKB
PRINTS MYOSINHEAVY UniProtKB/Swiss-Prot
PROSITE FERM_3 UniProtKB/Swiss-Prot
  MYOSIN_MOTOR UniProtKB/Swiss-Prot
  MYTH4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50096 UniProtKB/Swiss-Prot
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot
  MYSc UniProtKB/Swiss-Prot
  MyTH4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00015 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot
UniProt A0A2R8Y712_HUMAN UniProtKB/TrEMBL
  A0A494C1B3_HUMAN UniProtKB/TrEMBL
  B4DFC7 ENTREZGENE
  G3V4G3_HUMAN UniProtKB/TrEMBL
  G3V4Q3_HUMAN UniProtKB/TrEMBL
  K7EL45_HUMAN UniProtKB/TrEMBL
  K7EMS7_HUMAN UniProtKB/TrEMBL
  K7EQV1_HUMAN UniProtKB/TrEMBL
  MYO15_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DFC7 UniProtKB/Swiss-Prot