MYH9 (myosin heavy chain 9) - Rat Genome Database
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Gene: MYH9 (myosin heavy chain 9) Homo sapiens
Analyze
Symbol: MYH9
Name: myosin heavy chain 9
RGD ID: 732401
HGNC Page HGNC
Description: Exhibits several functions, including adenyl ribonucleotide binding activity; nucleoside-triphosphatase activity; and protein homodimerization activity. Involved in several processes, including actin cytoskeleton organization; myeloid cell differentiation; and negative regulation of actin filament severing. Localizes to several cellular components, including actin cytoskeleton; immunological synapse; and myosin II filament. Colocalizes with COP9 signalosome. Implicated in several diseases, including auditory system disease (multiple); autosomal dominant Alport syndrome; blood platelet disease (multiple); end stage renal disease; and proteinuria. Biomarker of MYH-9 related disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BDPLT6; cellular myosin heavy chain, type A; DFNA17; EPSTS; FTNS; MATINS; MGC104539; MHA; MYH9 variant protein; myosin heavy chain, non-muscle IIa; myosin, heavy chain 9, non-muscle; myosin, heavy polypeptide 9; myosin-9; NMHC-II-A; NMMHC II-a; NMMHC-A; NMMHC-IIA; NMMHCA; non-muscle myosin heavy chain 9; non-muscle myosin heavy chain A; non-muscle myosin heavy chain IIa; non-muscle myosin heavy polypeptide 9; nonmuscle myosin heavy chain II-A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2236,281,280 - 36,387,967 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2236,281,277 - 36,388,067 (-)EnsemblGRCh38hg38GRCh38
GRCh382236,281,280 - 36,387,967 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372236,677,326 - 36,784,012 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362235,007,272 - 35,113,927 (-)NCBINCBI36hg18NCBI36
Build 342235,001,826 - 35,108,481NCBI
Celera2220,479,895 - 20,586,681 (-)NCBI
Cytogenetic Map22q12.3NCBI
HuRef2219,645,404 - 19,752,216 (-)NCBIHuRef
CHM1_12236,636,447 - 36,743,245 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
17beta-estradiol 3-benzoate  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP,ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
blebbistatin  (ISO)
Brodifacoum  (ISO)
bucladesine  (EXP)
buspirone  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium atom  (ISO)
carbon nanotube  (ISO)
chloromethylisothiazolinone  (EXP)
chloropicrin  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenamidone  (ISO)
folic acid  (ISO)
fructose  (ISO)
fumonisin B1  (ISO)
genistein  (EXP)
glafenine  (ISO)
hypochlorous acid  (ISO)
isobutanol  (EXP)
isoflavones  (ISO)
L-methionine  (ISO)
medroxyprogesterone acetate  (EXP)
methylmercury chloride  (EXP)
miconazole  (ISO)
Monobutylphthalate  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
paracetamol  (EXP,ISO)
pirinixic acid  (ISO)
propanal  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
rotenone  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
Soman  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thiophenes  (EXP)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton reorganization  (IMP,ISO)
actin filament bundle assembly  (ISO)
actin filament bundle distribution  (ISO)
actin filament capping  (ISO)
actin filament polymerization  (ISO)
actin filament-based movement  (IDA)
actomyosin structure organization  (IDA)
angiogenesis  (IDA)
blood vessel endothelial cell migration  (IMP)
cell adhesion  (ISO)
cell morphogenesis involved in differentiation  (ISO)
cell-cell adhesion  (ISO)
cellular response to mechanical stimulus  (ISO)
cellular response to platelet-derived growth factor stimulus  (ISO)
cortical granule exocytosis  (ISS)
cytokinetic process  (IMP)
establishment of meiotic spindle localization  (IEA,ISO)
establishment of T cell polarity  (IEA,ISO)
follicle-stimulating hormone signaling pathway  (ISO)
in utero embryonic development  (IEA,ISO)
integrin-mediated signaling pathway  (NAS)
leukocyte migration  (NAS)
lysosome localization  (IMP)
meiotic spindle organization  (IEA,ISO)
membrane protein ectodomain proteolysis  (IDA)
monocyte differentiation  (IEP)
myoblast fusion  (IEA,ISO)
negative regulation of actin filament severing  (IMP,ISS)
negative regulation of inflammatory response to antigenic stimulus  (TAS)
negative regulation of vascular associated smooth muscle cell migration  (ISO)
phagocytosis, engulfment  (ISS)
plasma membrane repair  (IDA)
platelet aggregation  (HMP)
platelet formation  (IMP)
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway  (ISO)
positive regulation of endocytosis  (ISO)
positive regulation of ERK1 and ERK2 cascade  (ISO)
positive regulation of focal adhesion assembly  (ISO)
positive regulation of G protein-coupled receptor signaling pathway  (ISO)
positive regulation of inositol trisphosphate biosynthetic process  (ISO)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (ISO)
positive regulation of phagocytosis  (ISO)
positive regulation of protein processing in phagocytic vesicle  (ISS)
protein transport  (IMP)
regulated exocytosis  (IMP)
regulation of cell shape  (IMP,ISO)
regulation of plasma membrane repair  (IMP)
uropod organization  (IEA,ISO)
vesicle targeting  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Arrondel C, etal., J Am Soc Nephrol. 2002 Jan;13(1):65-74.
2. Ashley-Koch AE, etal., Br J Haematol. 2011 Nov;155(3):386-94. doi: 10.1111/j.1365-2141.2011.08832.x. Epub 2011 Sep 13.
3. Behar DM, etal., Hum Mol Genet. 2010 May 1;19(9):1816-27. Epub 2010 Feb 9.
4. Birnbaum S, etal., Eur J Oral Sci. 2009 Apr;117(2):200-3. doi: 10.1111/j.1600-0722.2008.00604.x.
5. Bowles NE, etal., Am J Med Genet A. 2015 Dec;167A(12):2975-84. doi: 10.1002/ajmg.a.37297. Epub 2015 Aug 18.
6. Chiquet BT, etal., Eur J Hum Genet. 2009 Feb;17(2):195-204. doi: 10.1038/ejhg.2008.149. Epub 2008 Aug 20.
7. Cooke JN, etal., Nephrol Dial Transplant. 2012 Apr;27(4):1505-11. Epub 2011 Oct 3.
8. Deutsch S, etal., Blood. 2003 Jul 15;102(2):529-34. Epub 2003 Mar 20.
9. Freedman BI, etal., Am J Nephrol. 2009;29(6):626-32. Epub 2009 Jan 20.
10. Freedman BI, etal., Kidney Int. 2009 Apr;75(7):736-45. Epub 2009 Jan 28.
11. Freedman BI, etal., Nephrol Dial Transplant. 2009 Nov;24(11):3366-71. Epub 2009 Jun 30.
12. Gallagher PJ, etal., Am J Physiol Cell Physiol. 2000 Oct;279(4):C1078-87.
13. Ghiggeri GM, etal., Am J Kidney Dis. 2003 Jan;41(1):95-104.
14. GOA_HUMAN data from the GO Consortium
15. Hays T, etal., AIDS. 2012 Apr 24;26(7):797-803.
16. Jia ZL, etal., DNA Cell Biol. 2010 Jan;29(1):25-32. doi: 10.1089/dna.2009.0935.
17. Johnstone DB, etal., Mol Cell Biol. 2011 May;31(10):2162-70. Epub 2011 Mar 14.
18. Kao WH, etal., Nat Genet. 2008 Oct;40(10):1185-92. Epub 2008 Sep 14.
19. Lalwani AK, etal., Am J Hum Genet. 2000 Nov;67(5):1121-8. Epub 2000 Oct 9.
20. Martinelli M, etal., J Med Genet. 2007 Jun;44(6):387-92. Epub 2007 Mar 2.
21. OMIM Disease Annotation Pipeline
22. Pipeline to import KEGG annotations from KEGG into RGD
23. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. RGD automated import pipeline for gene-chemical interactions
25. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
26. Sekine T, etal., Kidney Int. 2010 Jul;78(2):207-14. Epub 2010 Mar 3.
27. Seri M, etal., Hum Genet. 2002 Feb;110(2):182-6. Epub 2001 Dec 14.
28. Seri M, etal., Nat Genet. 2000 Sep;26(1):103-5.
29. Suzuki N, etal., PLoS One. 2013 Aug 20;8(8):e71187. doi: 10.1371/journal.pone.0071187. eCollection 2013.
30. Tayo BO, etal., Int Urol Nephrol. 2013 Apr;45(2):485-94. doi: 10.1007/s11255-012-0263-4. Epub 2012 Sep 7.
31. Verver EJ, etal., Ear Hear. 2016 Jan-Feb;37(1):112-20. doi: 10.1097/AUD.0000000000000198.
32. Walmsley SJ, etal., Am J Physiol Renal Physiol. 2012 Jun 1;302(11):F1465-77. doi: 10.1152/ajprenal.00390.2011. Epub 2012 Feb 22.
33. Yi Y, etal., Clin Chim Acta. 2006 Nov;373(1-2):49-54. Epub 2006 May 16.
34. Zhang S, etal., Oncogene 2005 Jun 23;24(27):4401-11.
Additional References at PubMed
PMID:352343   PMID:603622   PMID:1752022   PMID:1860190   PMID:1912569   PMID:1967836   PMID:2732579   PMID:6448079   PMID:7588733   PMID:7699007   PMID:8022818   PMID:8063857  
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Genomics

Comparative Map Data
MYH9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2236,281,280 - 36,387,967 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2236,281,277 - 36,388,067 (-)EnsemblGRCh38hg38GRCh38
GRCh382236,281,280 - 36,387,967 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372236,677,326 - 36,784,012 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362235,007,272 - 35,113,927 (-)NCBINCBI36hg18NCBI36
Build 342235,001,826 - 35,108,481NCBI
Celera2220,479,895 - 20,586,681 (-)NCBI
Cytogenetic Map22q12.3NCBI
HuRef2219,645,404 - 19,752,216 (-)NCBIHuRef
CHM1_12236,636,447 - 36,743,245 (-)NCBICHM1_1
Myh9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391577,644,785 - 77,726,375 (-)NCBIGRCm39mm39
GRCm39 Ensembl1577,644,787 - 77,726,375 (-)Ensembl
GRCm381577,760,585 - 77,842,175 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1577,760,587 - 77,842,175 (-)EnsemblGRCm38mm10GRCm38
MGSCv371577,591,019 - 77,672,545 (-)NCBIGRCm37mm9NCBIm37
MGSCv361577,587,843 - 77,669,360 (-)NCBImm8
Celera1579,227,040 - 79,308,545 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1536.81NCBI
Myh9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27109,343,718 - 109,424,457 (-)NCBI
Rnor_6.0 Ensembl7118,741,110 - 118,792,625 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07118,740,005 - 118,792,507 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07118,737,555 - 118,797,086 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47115,681,459 - 115,732,774 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17115,715,686 - 115,767,004 (-)NCBI
Celera7105,684,430 - 105,736,878 (-)NCBICelera
RH 3.4 Map7811.2RGD
Cytogenetic Map7q34NCBI
Myh9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541322,881,045 - 22,972,450 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541322,881,759 - 22,972,182 (-)NCBIChiLan1.0ChiLan1.0
MYH9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12235,039,461 - 35,121,618 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2235,039,101 - 35,121,618 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02217,200,623 - 17,305,826 (-)NCBIMhudiblu_PPA_v0panPan3
MYH9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11028,063,626 - 28,122,953 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1028,063,624 - 28,122,953 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1027,985,072 - 28,076,495 (+)NCBI
ROS_Cfam_1.01028,817,559 - 28,909,010 (+)NCBI
UMICH_Zoey_3.11028,544,285 - 28,635,641 (+)NCBI
UNSW_CanFamBas_1.01028,853,021 - 28,944,583 (+)NCBI
UU_Cfam_GSD_1.01029,031,010 - 29,122,482 (+)NCBI
Myh9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440494511,373,869 - 11,455,815 (+)NCBI
SpeTri2.0NW_0049364924,384,215 - 4,466,229 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYH9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1511,365,603 - 11,456,475 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.259,076,302 - 9,165,918 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYH9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11918,985,709 - 19,093,304 (-)NCBI
ChlSab1.1 Ensembl1918,986,598 - 19,052,671 (-)Ensembl
Myh9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475211,327,881 - 11,414,037 (+)NCBI

Position Markers
D22S284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,316,923 - 40,317,020UniSTSGRCh37
Build 362238,646,869 - 38,646,966RGDNCBI36
Celera2224,118,988 - 24,119,083RGD
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
HuRef2223,279,932 - 23,280,027UniSTS
Marshfield Genetic Map2246.42UniSTS
Marshfield Genetic Map2246.42RGD
Genethon Genetic Map2240.1UniSTS
deCODE Assembly Map2249.01UniSTS
Whitehead-YAC Contig Map22 UniSTS
D22S445  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.1UniSTS
Marshfield Genetic Map2245.82UniSTS
Marshfield Genetic Map2245.82RGD
deCODE Assembly Map2245.22UniSTS
Whitehead-RH Map22119.7UniSTS
D22S283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,750,849 - 36,751,068UniSTSGRCh37
GRCh372236,750,949 - 36,751,082UniSTSGRCh37
Build 362235,080,795 - 35,081,014RGDNCBI36
Celera2220,553,467 - 20,553,686RGD
Celera2220,553,567 - 20,553,700UniSTS
Cytogenetic Map22q13.1UniSTS
HuRef2219,719,140 - 19,719,357UniSTS
HuRef2219,719,240 - 19,719,371UniSTS
Marshfield Genetic Map2238.62RGD
Genethon Genetic Map2233.4UniSTS
TNG Radiation Hybrid Map228296.0UniSTS
Stanford-G3 RH Map22962.0UniSTS
GeneMap99-GB4 RH Map22122.67UniSTS
NCBI RH Map22148.7UniSTS
GeneMap99-G3 RH Map22962.0UniSTS
D22S683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,513,927 - 36,514,104UniSTSGRCh37
GRCh372236,512,893 - 36,514,104UniSTSGRCh37
Build 362234,843,873 - 34,844,050RGDNCBI36
Celera2220,315,462 - 20,316,673UniSTS
Celera2220,316,496 - 20,316,673RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,482,129 - 19,482,314UniSTS
HuRef2219,481,095 - 19,482,314UniSTS
Marshfield Genetic Map2236.22RGD
Marshfield Genetic Map2236.22UniSTS
Whitehead-RH Map22115.8UniSTS
D22S1244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,677,750 - 36,677,930UniSTSGRCh37
Build 362235,007,696 - 35,007,876RGDNCBI36
Celera2220,480,322 - 20,480,502RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,645,831 - 19,646,011UniSTS
Stanford-G3 RH Map221019.0UniSTS
NCBI RH Map22150.7UniSTS
GeneMap99-G3 RH Map221019.0UniSTS
RH78680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,677,574 - 36,677,698UniSTSGRCh37
Build 362235,007,520 - 35,007,644RGDNCBI36
Celera2220,480,146 - 20,480,270RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,645,655 - 19,645,779UniSTS
GeneMap99-GB4 RH Map22122.77UniSTS
NCBI RH Map22154.0UniSTS
G42919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,677,375 - 36,677,481UniSTSGRCh37
Build 362235,007,321 - 35,007,427RGDNCBI36
Celera2220,479,947 - 20,480,053RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,645,456 - 19,645,562UniSTS
D22S348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,755,183 - 36,755,381UniSTSGRCh37
Build 362235,085,129 - 35,085,327RGDNCBI36
Celera2220,557,801 - 20,557,999RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,723,472 - 19,723,670UniSTS
MYH9_1587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,677,658 - 36,678,498UniSTSGRCh37
Build 362235,007,604 - 35,008,444RGDNCBI36
Celera2220,480,230 - 20,481,070RGD
HuRef2219,645,739 - 19,646,579UniSTS
D22S693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372228,856,460 - 28,856,708UniSTSGRCh37
Build 362227,186,460 - 27,186,708RGDNCBI36
Celera2212,656,415 - 12,656,643RGD
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map22q13.1UniSTS
HuRef2211,820,976 - 11,821,200UniSTS
Whitehead-RH Map2264.6UniSTS
Whitehead-YAC Contig Map22 UniSTS
RH68678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,751,609 - 36,751,747UniSTSGRCh37
Build 362235,081,555 - 35,081,693RGDNCBI36
Celera2220,554,227 - 20,554,365RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,719,898 - 19,720,036UniSTS
GeneMap99-GB4 RH Map22111.71UniSTS
A008Z18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,698,392 - 36,698,560UniSTSGRCh37
Build 362235,028,338 - 35,028,506RGDNCBI36
Celera2220,500,963 - 20,501,131RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,666,473 - 19,666,641UniSTS
GeneMap99-GB4 RH Map22115.23UniSTS
AL008664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,766,963 - 36,767,113UniSTSGRCh37
Build 362235,096,909 - 35,097,059RGDNCBI36
Celera2220,569,581 - 20,569,731RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,735,252 - 19,735,402UniSTS
GDB:452635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,690,318 - 36,691,621UniSTSGRCh37
Celera2220,492,890 - 20,494,193UniSTS
Cytogenetic Map22q13.1UniSTS
HuRef2219,658,398 - 19,659,703UniSTS
D22S283  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map22q13.1UniSTS
Marshfield Genetic Map2238.62UniSTS
Genethon Genetic Map2233.4UniSTS
GeneMap99-GB4 RH Map22122.67UniSTS
NCBI RH Map22154.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoProteomics;MicroarrayNon-Functional MTI (Weak)18668037
MIRLET7F1hsa-let-7f-5pOncomiRDBexternal_infoNANA21533124
MIRLET7F2hsa-let-7f-5pOncomiRDBexternal_infoNANA21533124

Predicted Target Of
Summary Value
Count of predictions:3835
Count of miRNA genes:1062
Interacting mature miRNAs:1361
Transcripts:ENST00000216181, ENST00000401701, ENST00000456729, ENST00000459960, ENST00000463027, ENST00000472210, ENST00000473022, ENST00000475726, ENST00000477189, ENST00000486218, ENST00000495928
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 8 894 13 8 3 8 456 9 38 20 82 80 5 33 417
Medium 2424 2089 1710 614 1943 456 3899 2184 3626 397 1366 1528 166 1171 2371 4
Low 1 6 1 3 1 44 1 3 2 1 1
Below cutoff 2 1 1 4 1 6 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA420536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB191263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB290175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC049849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD614930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D11393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC296130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ304679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU159427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000216181   ⟹   ENSP00000216181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,281,280 - 36,387,967 (-)Ensembl
RefSeq Acc Id: ENST00000401701   ⟹   ENSP00000384631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,325,033 - 36,365,112 (-)Ensembl
RefSeq Acc Id: ENST00000456729   ⟹   ENSP00000414852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,348,928 - 36,365,111 (-)Ensembl
RefSeq Acc Id: ENST00000459960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,295,512 - 36,297,323 (-)Ensembl
RefSeq Acc Id: ENST00000463027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,320,274 - 36,328,952 (-)Ensembl
RefSeq Acc Id: ENST00000472210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,320,241 - 36,321,922 (-)Ensembl
RefSeq Acc Id: ENST00000473022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,302,308 - 36,304,025 (-)Ensembl
RefSeq Acc Id: ENST00000475726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,284,162 - 36,286,044 (-)Ensembl
RefSeq Acc Id: ENST00000477189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,316,513 - 36,319,835 (-)Ensembl
RefSeq Acc Id: ENST00000486218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,284,214 - 36,286,021 (-)Ensembl
RefSeq Acc Id: ENST00000495928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2236,300,910 - 36,301,714 (-)Ensembl
RefSeq Acc Id: NM_002473   ⟹   NP_002464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382236,281,280 - 36,387,967 (-)NCBI
GRCh372236,677,323 - 36,784,107 (-)NCBI
Build 362235,007,272 - 35,113,927 (-)NCBI Archive
HuRef2219,645,404 - 19,752,216 (-)ENTREZGENE
CHM1_12236,636,447 - 36,743,245 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002464   ⟸   NM_002473
- UniProtKB: P35579 (UniProtKB/Swiss-Prot),   A0A024R1N1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000216181   ⟸   ENST00000216181
RefSeq Acc Id: ENSP00000384631   ⟸   ENST00000401701
RefSeq Acc Id: ENSP00000414852   ⟸   ENST00000456729
Promoters
RGD ID:6800167
Promoter ID:HG_KWN:42594
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000259118,   OTTHUMT00000259119
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,011,641 - 35,013,032 (-)MPROMDB
RGD ID:6812203
Promoter ID:HG_ACW:51934
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:MYH9.FAPR07,   MYH9.IAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,019,981 - 35,020,992 (-)MPROMDB
RGD ID:6812202
Promoter ID:HG_ACW:51935
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:MYH9.MAPR07,   MYH9.NAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,021,494 - 35,021,994 (-)MPROMDB
RGD ID:6800164
Promoter ID:HG_KWN:42595
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000259117
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,022,901 - 35,024,052 (-)MPROMDB
RGD ID:6812204
Promoter ID:HG_ACW:51936
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:MYH9.PAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,025,711 - 35,026,211 (-)MPROMDB
RGD ID:6815438
Promoter ID:HG_MRA:10508
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:D11393
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,026,594 - 35,027,094 (-)MPROMDB
RGD ID:6800165
Promoter ID:HG_KWN:42596
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000259116
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,027,431 - 35,028,542 (-)MPROMDB
RGD ID:6800163
Promoter ID:HG_KWN:42597
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000259115
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,030,006 - 35,031,002 (-)MPROMDB
RGD ID:6800159
Promoter ID:HG_KWN:42598
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000259114
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,045,381 - 35,046,622 (-)MPROMDB
RGD ID:6800157
Promoter ID:HG_KWN:42599
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000259113
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,047,581 - 35,048,762 (-)MPROMDB
RGD ID:6800156
Promoter ID:HG_KWN:42600
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000259111
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,054,691 - 35,055,932 (-)MPROMDB
RGD ID:6800158
Promoter ID:HG_KWN:42602
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000259112,   UC003APH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,067,456 - 35,068,332 (-)MPROMDB
RGD ID:6800169
Promoter ID:HG_KWN:42603
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000401701,   OTTHUMT00000319104
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,090,921 - 35,091,421 (-)MPROMDB
RGD ID:6800166
Promoter ID:HG_KWN:42604
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000319103
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,102,431 - 35,103,307 (-)MPROMDB
RGD ID:6800161
Promoter ID:HG_KWN:42605
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337818,   ENST00000358424,   ENST00000397231,   NM_002473
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,113,616 - 35,114,487 (-)MPROMDB
RGD ID:13603894
Promoter ID:EPDNEW_H28131
Type:initiation region
Name:MYH9_1
Description:myosin heavy chain 9
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
GRCh382236,387,967 - 36,388,027EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002473.5(MYH9):c.2900T>A (p.Val967Glu) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032219] Chr22:36300203 [GRCh38]
Chr22:36696249 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.3494G>T (p.Arg1165Leu) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032221] Chr22:36295068 [GRCh38]
Chr22:36691114 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.4270G>T (p.Asp1424Tyr) single nucleotide variant MYH9-related disorder [RCV000790359]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032224] Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000402895]|MYH9-related disorder [RCV000368736]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032225]|not specified [RCV000037563] Chr22:36288308 [GRCh38]
Chr22:36684354 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.5797C>T (p.Arg1933Ter) single nucleotide variant Abnormal bleeding [RCV001270545]|MYH9-related disorder [RCV000790363]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015116]|not provided [RCV001092002] Chr22:36282754 [GRCh38]
Chr22:36678800 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys) single nucleotide variant MYH9-related disorder [RCV000790361]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015119] Chr22:36284474 [GRCh38]
Chr22:36680520 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.3493C>T (p.Arg1165Cys) single nucleotide variant Abnormal bleeding [RCV001270614]|MYH9-related disorder [RCV000790357]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015121]|not provided [RCV001092004] Chr22:36295069 [GRCh38]
Chr22:36691115 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.279C>G (p.Asn93Lys) single nucleotide variant MYH9-related disorder [RCV000790350]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015122] Chr22:36348958 [GRCh38]
Chr22:36745003 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.4270G>C (p.Asp1424His) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032223] Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.3464C>T (p.Thr1155Ile) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015124] Chr22:36295526 [GRCh38]
Chr22:36691572 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) single nucleotide variant MYH9-related disorder [RCV000790354]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015129]|not provided [RCV000523446] Chr22:36305985 [GRCh38]
Chr22:36702031 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.2114G>A (p.Arg705His) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000015130]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032218] Chr22:36305975 [GRCh38]
Chr22:36702021 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.5821del (p.Asp1941fs) deletion Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015131] Chr22:36282730 [GRCh38]
Chr22:36678776 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.2105G>A (p.Arg702His) single nucleotide variant MYH9-related disorder [RCV000851738]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015132] Chr22:36305984 [GRCh38]
Chr22:36702030 [GRCh37]
Chr22:22q12.3
pathogenic|likely pathogenic
NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) single nucleotide variant MYH9-related disorder [RCV000790358]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015134]|Thrombocytopenia [RCV001271110] Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000477821]|MYH9-related disorder [RCV000790352]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015138] Chr22:36348950 [GRCh38]
Chr22:36744995 [GRCh37]
Chr22:22q12.3
pathogenic|likely pathogenic
NM_002473.5(MYH9):c.3195_3215del (p.Gln1068_Leu1074del) deletion Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015139] Chr22:36296900..36296920 [GRCh38]
Chr22:36692946..36692966 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.5(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup) duplication Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015141] Chr22:36296899..36296900 [GRCh38]
Chr22:36692945..36692946 [GRCh37]
Chr22:22q12.3
pathogenic
MYH9, 18-BP DEL, NT228 deletion Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015142] Chr22:22q11.2 pathogenic
NM_002473.5(MYH9):c.5050C>T (p.Gln1684Ter) single nucleotide variant MYH9-related disorder [RCV000778658] Chr22:36286729 [GRCh38]
Chr22:36682775 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.2810_2812AGA[3] (p.Lys940del) microsatellite not provided [RCV000722320] Chr22:36300868..36300870 [GRCh38]
Chr22:36696914..36696916 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000393048]|MYH9-related disorder [RCV000349300]|not provided [RCV000884373]|not specified [RCV000037545] Chr22:36319565 [GRCh38]
Chr22:36715610 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.1108+9C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000317889]|MYH9-related disorder [RCV000279147]|not provided [RCV000843626]|not specified [RCV000037546] Chr22:36319531 [GRCh38]
Chr22:36715576 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.1554+7A>G single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000334868]|MYH9-related disorder [RCV000392730]|not specified [RCV000037547] Chr22:36314138 [GRCh38]
Chr22:36710183 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.1728+10G>A single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000378689]|MYH9-related disorder [RCV000326334]|none provided [RCV001282185]|not specified [RCV000037548] Chr22:36312039 [GRCh38]
Chr22:36708084 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.1729-6C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000269211]|MYH9-related disorder [RCV000384702]|not provided [RCV000839997]|not specified [RCV000037549] Chr22:36309402 [GRCh38]
Chr22:36705447 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.2038-5T>C single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000314431]|MYH9-related disorder [RCV000366795]|not provided [RCV000839998]|not specified [RCV000037550] Chr22:36306056 [GRCh38]
Chr22:36702102 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.2061C>T (p.Leu687=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000275795]|MYH9-related disorder [RCV000354168]|not provided [RCV000840082]|not specified [RCV000037551] Chr22:36306028 [GRCh38]
Chr22:36702074 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.2256T>C (p.Asn752=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000382652]|MYH9-related disorder [RCV000285855]|not specified [RCV000037552] Chr22:36304129 [GRCh38]
Chr22:36700175 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.3100+11G>C single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000351362]|MYH9-related disorder [RCV000296510]|not specified [RCV000037553] Chr22:36298908 [GRCh38]
Chr22:36694954 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000281034]|MYH9-related disorder [RCV000375503]|not provided [RCV000725348]|not specified [RCV000037554] Chr22:36296923 [GRCh38]
Chr22:36692969 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000309077]|MYH9-related disorder [RCV000404900]|not provided [RCV000992410]|not specified [RCV000037555] Chr22:36295645 [GRCh38]
Chr22:36691691 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000404023]|MYH9-related disorder [RCV000351776]|not specified [RCV000037556] Chr22:36295561 [GRCh38]
Chr22:36691607 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.3838-12C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000366178]|MYH9-related disorder [RCV000330231]|not specified [RCV000037557] Chr22:36293875 [GRCh38]
Chr22:36689921 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.3838-8C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000315405]|MYH9-related disorder [RCV000404950]|not provided [RCV000844387]|not specified [RCV000037558] Chr22:36293871 [GRCh38]
Chr22:36689917 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000382897]|MYH9-related disorder [RCV000346916]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000990430]|not provided [RCV000992411]|not specified [RCV000037559] Chr22:36292132 [GRCh38]
Chr22:36688178 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.4563C>T (p.His1521=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000373096]|MYH9-related disorder [RCV000278039]|not provided [RCV000992412]|not specified [RCV000037560] Chr22:36288934 [GRCh38]
Chr22:36684980 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.4716C>T (p.Asp1572=) single nucleotide variant not specified [RCV000037561] Chr22:36288781 [GRCh38]
Chr22:36684827 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000310599]|MYH9-related disorder [RCV000365226]|not specified [RCV000037562] Chr22:36288312 [GRCh38]
Chr22:36684358 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.4899G>A (p.Arg1633=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000280212]|MYH9-related disorder [RCV000335221]|not specified [RCV000037564] Chr22:36288285 [GRCh38]
Chr22:36684331 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000392887]|MYH9-related disorder [RCV000338710]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000990429]|not provided [RCV000512726]|not specified [RCV000037565] Chr22:36286827 [GRCh38]
Chr22:36682873 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.5151-4G>A single nucleotide variant not provided [RCV000724182]|not specified [RCV000037566] Chr22:36285785 [GRCh38]
Chr22:36681831 [GRCh37]
Chr22:22q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000353893]|MYH9-related disorder [RCV000315373]|not provided [RCV000514769]|not specified [RCV000037567] Chr22:36285281 [GRCh38]
Chr22:36681327 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.5483+4C>G single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000311714]|MYH9-related disorder [RCV000404724]|none provided [RCV001287785]|not provided [RCV000992415]|not specified [RCV000037568] Chr22:36285117 [GRCh38]
Chr22:36681163 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.5766-3del deletion MYH9-related disorder [RCV000281925]|Nonsyndromic Hearing Loss, Dominant [RCV000320666]|none provided [RCV001282204]|not provided [RCV000948132]|not specified [RCV000037569] Chr22:36282788 [GRCh38]
Chr22:36678834 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000374178]|MYH9-related disorder [RCV000317245]|not provided [RCV000965497]|not specified [RCV000037570] Chr22:36282770 [GRCh38]
Chr22:36678816 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000370238]|MYH9-related disorder [RCV000259717]|none provided [RCV001285643]|not provided [RCV000960213]|not specified [RCV000037571] Chr22:36282733 [GRCh38]
Chr22:36678779 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.705+9C>T single nucleotide variant not specified [RCV000037572] Chr22:36322420 [GRCh38]
Chr22:36718465 [GRCh37]
Chr22:22q12.3
likely benign
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1
pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3 copy number gain See cases [RCV000051683] Chr22:36068124..38002382 [GRCh38]
Chr22:36464172..38398389 [GRCh37]
Chr22:34794118..36728335 [NCBI36]
Chr22:22q12.3-13.1
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3 copy number gain See cases [RCV000052854] Chr22:35753347..36593973 [GRCh38]
Chr22:36149394..36990020 [GRCh37]
Chr22:34479340..35319966 [NCBI36]
Chr22:22q12.3
uncertain significance
GRCh38/hg38 22q12.3(chr22:36246060-36313181)x3 copy number gain See cases [RCV000052855] Chr22:36246060..36313181 [GRCh38]
Chr22:36642106..36709226 [GRCh37]
Chr22:34972052..35039172 [NCBI36]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.3914C>T (p.Ala1305Val) single nucleotide variant Malignant melanoma [RCV000072955] Chr22:36293787 [GRCh38]
Chr22:36689833 [GRCh37]
Chr22:35019779 [NCBI36]
Chr22:22q12.3
not provided
NM_002473.5(MYH9):c.4639G>C (p.Glu1547Gln) single nucleotide variant not provided [RCV000657987] Chr22:36288858 [GRCh38]
Chr22:36684904 [GRCh37]
Chr22:22q12.3
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q12.3(chr22:36313122-36561017)x3 copy number gain See cases [RCV000138088] Chr22:36313122..36561017 [GRCh38]
Chr22:36709167..36957064 [GRCh37]
Chr22:35039113..35287010 [NCBI36]
Chr22:22q12.3
uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q12.3(chr22:36218250-36311777)x3 copy number gain See cases [RCV000141655] Chr22:36218250..36311777 [GRCh38]
Chr22:36614296..36707822 [GRCh37]
Chr22:34944242..35037768 [NCBI36]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) single nucleotide variant not specified [RCV000155868] Chr22:36295606 [GRCh38]
Chr22:36691652 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met) single nucleotide variant not specified [RCV000155935] Chr22:36288257 [GRCh38]
Chr22:36684303 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.5013C>T (p.Asn1671=) single nucleotide variant not provided [RCV000916539]|not specified [RCV000155949] Chr22:36286766 [GRCh38]
Chr22:36682812 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=) single nucleotide variant not specified [RCV000155957] Chr22:36285697 [GRCh38]
Chr22:36681743 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.1980G>A (p.Thr660=) single nucleotide variant not specified [RCV000155977] Chr22:36306471 [GRCh38]
Chr22:36702517 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001150619]|MYH9-related disorder [RCV001150618]|not provided [RCV000416222]|not specified [RCV000151322] Chr22:36286753 [GRCh38]
Chr22:36682799 [GRCh37]
Chr22:22q12.3
benign|likely benign|uncertain significance
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000376435]|MYH9-related disorder [RCV000321800]|not specified [RCV000151323] Chr22:36288770 [GRCh38]
Chr22:36684816 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.5718G>A (p.Thr1906=) single nucleotide variant not specified [RCV000155995] Chr22:36284140 [GRCh38]
Chr22:36680186 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.2037+14G>T single nucleotide variant not specified [RCV000155997] Chr22:36306400 [GRCh38]
Chr22:36702446 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.2789G>A (p.Arg930His) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001281687]|not specified [RCV000156038] Chr22:36300900 [GRCh38]
Chr22:36696946 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu) single nucleotide variant not specified [RCV000156169] Chr22:36292151 [GRCh38]
Chr22:36688197 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp) single nucleotide variant not specified [RCV000156181] Chr22:36285908 [GRCh38]
Chr22:36681954 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.1056C>T (p.Ile352=) single nucleotide variant not provided [RCV000919506]|not specified [RCV000156216] Chr22:36319592 [GRCh38]
Chr22:36715637 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys) single nucleotide variant not specified [RCV000156222] Chr22:36320833 [GRCh38]
Chr22:36716878 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.4558-13C>T single nucleotide variant not specified [RCV000156351] Chr22:36288952 [GRCh38]
Chr22:36684998 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.5275-10del deletion not specified [RCV000156416] Chr22:36285339 [GRCh38]
Chr22:36681385 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.5484-13G>C single nucleotide variant not specified [RCV000156526] Chr22:36284524 [GRCh38]
Chr22:36680570 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) single nucleotide variant not specified [RCV000151318] Chr22:36282745 [GRCh38]
Chr22:36678791 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.5766-10C>T single nucleotide variant not specified [RCV000151319] Chr22:36282795 [GRCh38]
Chr22:36678841 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.5593-14G>T single nucleotide variant not specified [RCV000151320] Chr22:36284279 [GRCh38]
Chr22:36680325 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.4638C>T (p.Asp1546=) single nucleotide variant not provided [RCV000992413]|not specified [RCV000151324] Chr22:36288859 [GRCh38]
Chr22:36684905 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) single nucleotide variant Rare genetic deafness [RCV000151326] Chr22:36289096 [GRCh38]
Chr22:36685142 [GRCh37]
Chr22:22q12.3
pathogenic|likely pathogenic
NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln) single nucleotide variant not specified [RCV000151328] Chr22:36289194 [GRCh38]
Chr22:36685240 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.4308G>A (p.Ala1436=) single nucleotide variant not provided [RCV000919212]|not specified [RCV000151330] Chr22:36292022 [GRCh38]
Chr22:36688068 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000331644]|MYH9-related disorder [RCV000276612]|not specified [RCV000151332] Chr22:36292033 [GRCh38]
Chr22:36688079 [GRCh37]
Chr22:22q12.3
benign|uncertain significance
NM_002473.6(MYH9):c.3291C>A (p.Ala1097=) single nucleotide variant not specified [RCV000151336] Chr22:36295699 [GRCh38]
Chr22:36691745 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.2766C>G (p.Ala922=) single nucleotide variant not specified [RCV000151339] Chr22:36300923 [GRCh38]
Chr22:36696969 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.2714G>A (p.Arg905His) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000765635]|not specified [RCV000151340] Chr22:36300975 [GRCh38]
Chr22:36697021 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.2316G>A (p.Glu772=) single nucleotide variant not specified [RCV000151345] Chr22:36304069 [GRCh38]
Chr22:36700115 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.1843+14C>A single nucleotide variant not specified [RCV000151347] Chr22:36309268 [GRCh38]
Chr22:36705313 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.859C>T (p.His287Tyr) single nucleotide variant not specified [RCV000151352] Chr22:36320807 [GRCh38]
Chr22:36716852 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.705+11C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000359491]|MYH9-related disorder [RCV000302357]|not specified [RCV000151353] Chr22:36322418 [GRCh38]
Chr22:36718463 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.637C>T (p.Gln213Ter) single nucleotide variant not specified [RCV000151354] Chr22:36322497 [GRCh38]
Chr22:36718542 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.468C>T (p.Thr156=) single nucleotide variant not specified [RCV000151356] Chr22:36341392 [GRCh38]
Chr22:36737437 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.437T>A (p.Met146Lys) single nucleotide variant not specified [RCV000151358] Chr22:36341423 [GRCh38]
Chr22:36737468 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.333+13C>T single nucleotide variant not specified [RCV000151359] Chr22:36348891 [GRCh38]
Chr22:36744936 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.1843+12G>C single nucleotide variant not specified [RCV000156835] Chr22:36309270 [GRCh38]
Chr22:36705315 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.5815G>A (p.Ala1939Thr) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001148987]|MYH9-related disorder [RCV001148988]|not provided [RCV000961751]|not specified [RCV000155172] Chr22:36282736 [GRCh38]
Chr22:36678782 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000357489]|MYH9-related disorder [RCV000265008]|not provided [RCV000900198]|not specified [RCV000155173] Chr22:36285872 [GRCh38]
Chr22:36681918 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.5142C>T (p.Ser1714=) single nucleotide variant not specified [RCV000155174] Chr22:36285873 [GRCh38]
Chr22:36681919 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.4932+13G>A single nucleotide variant not specified [RCV000155178] Chr22:36288239 [GRCh38]
Chr22:36684285 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.3943-7C>A single nucleotide variant not specified [RCV000155181] Chr22:36293488 [GRCh38]
Chr22:36689534 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.3216G>A (p.Ala1072=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000265835]|MYH9-related disorder [RCV000320933]|not provided [RCV000919066]|not specified [RCV000155182] Chr22:36296899 [GRCh38]
Chr22:36692945 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.1555-12C>T single nucleotide variant not specified [RCV000155183] Chr22:36312234 [GRCh38]
Chr22:36708279 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.1242C>T (p.Ile414=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001147374]|MYH9-related disorder [RCV001147375]|not provided [RCV000896254]|not specified [RCV000155184] Chr22:36316655 [GRCh38]
Chr22:36712700 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.769+15C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000393035]|MYH9-related disorder [RCV000308090]|not specified [RCV000155185] Chr22:36321743 [GRCh38]
Chr22:36717788 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000339441]|MYH9-related disorder [RCV000286819]|Vitelliform macular dystrophy 1 [RCV000509473]|not provided [RCV000972196]|not specified [RCV000155186] Chr22:36349101 [GRCh38]
Chr22:36745146 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000369754]|MYH9-related disorder [RCV000298717]|not provided [RCV000960214]|not specified [RCV000155187] Chr22:36349230 [GRCh38]
Chr22:36745275 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys) single nucleotide variant not specified [RCV000151321] Chr22:36285744 [GRCh38]
Chr22:36681790 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn) single nucleotide variant not provided [RCV000727282]|not specified [RCV000151325] Chr22:36289086 [GRCh38]
Chr22:36685132 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=) single nucleotide variant not provided [RCV000894271]|not specified [RCV000151327] Chr22:36289163 [GRCh38]
Chr22:36685209 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000348717]|MYH9-related disorder [RCV000293752]|not provided [RCV000726552]|not specified [RCV000151329] Chr22:36289246 [GRCh38]
Chr22:36685292 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr) single nucleotide variant not specified [RCV000151331] Chr22:36292024 [GRCh38]
Chr22:36688070 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000386272]|MYH9-related disorder [RCV000291994]|not provided [RCV000724779]|not specified [RCV000151333] Chr22:36292105 [GRCh38]
Chr22:36688151 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.3485+8C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001144826]|MYH9-related disorder [RCV001144825]|not provided [RCV000890466]|not specified [RCV000151334] Chr22:36295497 [GRCh38]
Chr22:36691543 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000268989]|MYH9-related disorder [RCV000363597]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000990431]|not provided [RCV000767070]|not specified [RCV000151335] Chr22:36295650 [GRCh38]
Chr22:36691696 [GRCh37]
Chr22:22q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.2721C>T (p.Thr907=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000393134]|MYH9-related disorder [RCV000348023]|not provided [RCV000969749]|not specified [RCV000151337] Chr22:36300968 [GRCh38]
Chr22:36697014 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000387348]|MYH9-related disorder [RCV000293055]|not provided [RCV000726812]|not specified [RCV000151338] Chr22:36300231 [GRCh38]
Chr22:36696277 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.2517G>A (p.Gln839=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000354007]|MYH9-related disorder [RCV000301524]|not provided [RCV000955604]|not specified [RCV000151341] Chr22:36301648 [GRCh38]
Chr22:36697694 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.2635A>C (p.Met879Leu) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000306348]|MYH9-related disorder [RCV000344830]|not specified [RCV000151342] Chr22:36301054 [GRCh38]
Chr22:36697100 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.2500-14A>G single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000261254]|MYH9-related disorder [RCV000332858]|not specified [RCV000151343] Chr22:36301679 [GRCh38]
Chr22:36697725 [GRCh37]
Chr22:22q12.3
likely benign|uncertain significance
NM_002473.6(MYH9):c.2448C>T (p.Cys816=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000274358]|MYH9-related disorder [RCV000389770]|not provided [RCV000949865]|not specified [RCV000151344] Chr22:36302619 [GRCh38]
Chr22:36698665 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.2229+13G>T single nucleotide variant not specified [RCV000151346] Chr22:36305020 [GRCh38]
Chr22:36701066 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.1626C>T (p.Phe542=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000320681]|MYH9-related disorder [RCV000286746]|not provided [RCV000844362]|not specified [RCV000151348] Chr22:36312151 [GRCh38]
Chr22:36708196 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.1491C>T (p.Ile497=) single nucleotide variant not provided [RCV000727283]|not specified [RCV000151349] Chr22:36314208 [GRCh38]
Chr22:36710253 [GRCh37]
Chr22:22q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.1212G>A (p.Ala404=) single nucleotide variant not specified [RCV000151350] Chr22:36318222 [GRCh38]
Chr22:36714267 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.1158C>T (p.Thr386=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000357540]|MYH9-related disorder [RCV000265189]|not provided [RCV000948133]|not specified [RCV000151351] Chr22:36318276 [GRCh38]
Chr22:36714321 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.591G>A (p.Ser197=) single nucleotide variant not provided [RCV000725037]|not specified [RCV000151355] Chr22:36326589 [GRCh38]
Chr22:36722634 [GRCh37]
Chr22:22q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.491-7G>A single nucleotide variant not specified [RCV000151357] Chr22:36327495 [GRCh38]
Chr22:36723540 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) single nucleotide variant not specified [RCV000155175] Chr22:36286730 [GRCh38]
Chr22:36682776 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000322530]|MYH9-related disorder [RCV000379501]|not specified [RCV000155176] Chr22:36286769 [GRCh38]
Chr22:36682815 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.4956C>T (p.Arg1652=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001144527]|MYH9-related disorder [RCV001144526]|not provided [RCV000885525]|not specified [RCV000155177] Chr22:36286823 [GRCh38]
Chr22:36682869 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000314016]|MYH9-related disorder [RCV000406494]|not provided [RCV000724778]|not specified [RCV000155179] Chr22:36288306 [GRCh38]
Chr22:36684352 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.4831G>A (p.Ala1611Thr) single nucleotide variant not specified [RCV000155180] Chr22:36288353 [GRCh38]
Chr22:36684399 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.4340A>T (p.Asp1447Val) single nucleotide variant MYH9-related disorder [RCV000790360]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000192270] Chr22:36291990 [GRCh38]
Chr22:36688036 [GRCh37]
Chr22:22q12.3
pathogenic|likely pathogenic
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000266596]|MYH9-related disorder [RCV000361326]|not provided [RCV000726429]|not specified [RCV000350880] Chr22:36288366 [GRCh38]
Chr22:36684412 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1 copy number loss See cases [RCV000207444] Chr22:35680095..38098981 [GRCh37]
Chr22:22q12.3-13.1
pathogenic
NM_002473.6(MYH9):c.4971C>G (p.Thr1657=) single nucleotide variant not specified [RCV000221893] Chr22:36286808 [GRCh38]
Chr22:36682854 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.928A>G (p.Ile310Val) single nucleotide variant not specified [RCV000217070] Chr22:36320304 [GRCh38]
Chr22:36716349 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.5181G>A (p.Leu1727=) single nucleotide variant not provided [RCV000882783]|not specified [RCV000217328] Chr22:36285751 [GRCh38]
Chr22:36681797 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.4095+15G>A single nucleotide variant not specified [RCV000222120] Chr22:36293314 [GRCh38]
Chr22:36689360 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.3697G>A (p.Val1233Met) single nucleotide variant not specified [RCV000213533] Chr22:36294232 [GRCh38]
Chr22:36690278 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.2989C>T (p.Leu997=) single nucleotide variant not provided [RCV000841209]|not specified [RCV000220096] Chr22:36299030 [GRCh38]
Chr22:36695076 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.18C>T (p.Ala6=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000338428]|MYH9-related disorder [RCV000406587]|not provided [RCV000910530]|not specified [RCV000213651] Chr22:36349219 [GRCh38]
Chr22:36745264 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr) single nucleotide variant not specified [RCV000213761] Chr22:36296901 [GRCh38]
Chr22:36692947 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.4023C>T (p.Phe1341=) single nucleotide variant not specified [RCV000217825] Chr22:36293401 [GRCh38]
Chr22:36689447 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.1722C>T (p.Ala574=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001148194]|MYH9-related disorder [RCV001148195]|not specified [RCV000220323] Chr22:36312055 [GRCh38]
Chr22:36708100 [GRCh37]
Chr22:22q12.3
likely benign|uncertain significance
NM_002473.6(MYH9):c.5490C>T (p.Arg1830=) single nucleotide variant not specified [RCV000215587] Chr22:36284505 [GRCh38]
Chr22:36680551 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=) single nucleotide variant not provided [RCV000895184]|not specified [RCV000218062] Chr22:36296860 [GRCh38]
Chr22:36692906 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.1890C>T (p.Thr630=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001147290]|MYH9-related disorder [RCV001147291]|not specified [RCV000213996] Chr22:36306561 [GRCh38]
Chr22:36702607 [GRCh37]
Chr22:22q12.3
benign|likely benign|uncertain significance
NM_002473.5(MYH9):c.5225_5239del (p.Gln1742_Glu1746del) deletion not specified [RCV000214062] Chr22:36285693..36285707 [GRCh38]
Chr22:36681739..36681753 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.2565G>A (p.Val855=) single nucleotide variant not provided [RCV000924607]|not specified [RCV000215813] Chr22:36301600 [GRCh38]
Chr22:36697646 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.1176G>A (p.Pro392=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000323893]|MYH9-related disorder [RCV000266385]|not specified [RCV000220606] Chr22:36318258 [GRCh38]
Chr22:36714303 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.3903G>C (p.Lys1301Asn) single nucleotide variant not specified [RCV000220609] Chr22:36293798 [GRCh38]
Chr22:36689844 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.1177C>T (p.Arg393Cys) single nucleotide variant not provided [RCV000722213] Chr22:36318257 [GRCh38]
Chr22:36714302 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.2159+6C>T single nucleotide variant not specified [RCV000222539] Chr22:36305924 [GRCh38]
Chr22:36701970 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001150836]|MYH9-related disorder [RCV001150837]|not specified [RCV000216020] Chr22:36292083 [GRCh38]
Chr22:36688129 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.1587C>T (p.Asp529=) single nucleotide variant not specified [RCV000216040] Chr22:36312190 [GRCh38]
Chr22:36708235 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.705+14C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000405481]|MYH9-related disorder [RCV000360582]|not specified [RCV000218466] Chr22:36322415 [GRCh38]
Chr22:36718460 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.519-6T>G single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001145645]|MYH9-related disorder [RCV001145644]|not specified [RCV000220999] Chr22:36326667 [GRCh38]
Chr22:36722712 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.888G>A (p.Pro296=) single nucleotide variant not provided [RCV000891855]|not specified [RCV000222726] Chr22:36320344 [GRCh38]
Chr22:36716389 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.4344+10C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000356052]|MYH9-related disorder [RCV000261215]|none provided [RCV001282397]|not provided [RCV000881831]|not specified [RCV000214641] Chr22:36291976 [GRCh38]
Chr22:36688022 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.5592+11T>C single nucleotide variant not specified [RCV000218710] Chr22:36284392 [GRCh38]
Chr22:36680438 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.3561C>A (p.Ile1187=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000278106]|MYH9-related disorder [RCV000392722]|not specified [RCV000221175] Chr22:36295001 [GRCh38]
Chr22:36691047 [GRCh37]
Chr22:22q12.3
likely benign|uncertain significance
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) single nucleotide variant not specified [RCV000222927] Chr22:36293374 [GRCh38]
Chr22:36689420 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.5832C>T (p.Asp1944=) single nucleotide variant not specified [RCV000222964] Chr22:36282719 [GRCh38]
Chr22:36678765 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.1380T>C (p.Asp460=) single nucleotide variant not specified [RCV000218903] Chr22:36316517 [GRCh38]
Chr22:36712562 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.4653C>T (p.Thr1551=) single nucleotide variant not provided [RCV000839956]|not specified [RCV000218953] Chr22:36288844 [GRCh38]
Chr22:36684890 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.615C>T (p.Gly205=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001145531]|MYH9-related disorder [RCV001145532]|not provided [RCV000843507]|not specified [RCV000216657] Chr22:36322519 [GRCh38]
Chr22:36718564 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.*8C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000367215]|MYH9-related disorder [RCV000310238]|not specified [RCV000215226] Chr22:36282660 [GRCh38]
Chr22:36678706 [GRCh37]
Chr22:22q12.3
benign|likely benign|uncertain significance
NM_002473.6(MYH9):c.4598A>G (p.Gln1533Arg) single nucleotide variant not specified [RCV000216927] Chr22:36288899 [GRCh38]
Chr22:36684945 [GRCh37]
Chr22:22q12.3
uncertain significance
GRCh37/hg19 22q12.3(chr22:36623928-36677639)x3 copy number gain See cases [RCV000239870] Chr22:36623928..36677639 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.4747_4749AAG[2] (p.Lys1585del) microsatellite Autosomal dominant nonsyndromic deafness 17 [RCV000626302] Chr22:36288742..36288744 [GRCh38]
Chr22:36684788..36684790 [GRCh37]
Chr22:22q12.3
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_002473.5(MYH9):c.1468_1470GAG[1] (p.Glu491del) microsatellite not specified [RCV000600365] Chr22:36314226..36314228 [GRCh38]
Chr22:36710271..36710273 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.5766-5C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001150501]|MYH9-related disorder [RCV001150500]|not provided [RCV000924999]|not specified [RCV000248551] Chr22:36282790 [GRCh38]
Chr22:36678836 [GRCh37]
Chr22:22q12.3
benign|likely benign|uncertain significance
NM_002473.5(MYH9):c.2037+43G>T single nucleotide variant not specified [RCV000250949] Chr22:36306371 [GRCh38]
Chr22:36702417 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.1344C>T (p.Ile448=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000403087]|MYH9-related disorder [RCV000365289]|not specified [RCV000253361] Chr22:36316553 [GRCh38]
Chr22:36712598 [GRCh37]
Chr22:22q12.3
benign|likely benign|uncertain significance
NM_002473.5(MYH9):c.1228-16C>T single nucleotide variant not specified [RCV000243824] Chr22:36316685 [GRCh38]
Chr22:36712730 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.769+15C>G single nucleotide variant not specified [RCV000246236] Chr22:36321743 [GRCh38]
Chr22:36717788 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.645C>T (p.Asn215=) single nucleotide variant not specified [RCV000246348] Chr22:36322489 [GRCh38]
Chr22:36718534 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.3101-5T>C single nucleotide variant not specified [RCV000246434] Chr22:36297019 [GRCh38]
Chr22:36693065 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.1728+37_1728+44del deletion not provided [RCV000842923]|not specified [RCV000251245] Chr22:36312005..36312012 [GRCh38]
Chr22:36708050..36708057 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.705+15G>A single nucleotide variant not specified [RCV000251266] Chr22:36322414 [GRCh38]
Chr22:36718459 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.3876C>T (p.Ser1292=) single nucleotide variant not specified [RCV000251307] Chr22:36293825 [GRCh38]
Chr22:36689871 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.5765+7C>T single nucleotide variant not specified [RCV000253710] Chr22:36284086 [GRCh38]
Chr22:36680132 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.1149C>T (p.Thr383=) single nucleotide variant not specified [RCV000244129] Chr22:36318285 [GRCh38]
Chr22:36714330 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.518+23A>G single nucleotide variant not specified [RCV000246590] Chr22:36327438 [GRCh38]
Chr22:36723483 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.450C>T (p.Ile150=) single nucleotide variant not specified [RCV000253929] Chr22:36341410 [GRCh38]
Chr22:36737455 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.5709C>T (p.Ala1903=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV001144411]|MYH9-related disorder [RCV001144412]|not provided [RCV000885524]|not specified [RCV000244171] Chr22:36284149 [GRCh38]
Chr22:36680195 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.5(MYH9):c.2808G>A (p.Ala936=) single nucleotide variant not specified [RCV000251687] Chr22:36300881 [GRCh38]
Chr22:36696927 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.3837+25C>T single nucleotide variant not specified [RCV000246911] Chr22:36294067 [GRCh38]
Chr22:36690113 [GRCh37]
Chr22:22q12.3
benign
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
NM_002473.5(MYH9):c.3272+11C>T single nucleotide variant not specified [RCV000254336] Chr22:36296832 [GRCh38]
Chr22:36692878 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.3837+18A>G single nucleotide variant not provided [RCV000842772]|not specified [RCV000242324] Chr22:36294074 [GRCh38]
Chr22:36690120 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.2205C>T (p.Asp735=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000402946]|MYH9-related disorder [RCV000296989]|not specified [RCV000242446] Chr22:36305057 [GRCh38]
Chr22:36701103 [GRCh37]
Chr22:22q12.3
likely benign|uncertain significance
NM_002473.5(MYH9):c.2160-37A>T single nucleotide variant not specified [RCV000252287] Chr22:36305139 [GRCh38]
Chr22:36701185 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.2159+39C>A single nucleotide variant not specified [RCV000247520] Chr22:36305891 [GRCh38]
Chr22:36701937 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.1108+38G>A single nucleotide variant not specified [RCV000247588] Chr22:36319502 [GRCh38]
Chr22:36715547 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.5136C>T (p.Asn1712=) single nucleotide variant not specified [RCV000249920] Chr22:36285879 [GRCh38]
Chr22:36681925 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.1108+19C>T single nucleotide variant not specified [RCV000242762] Chr22:36319521 [GRCh38]
Chr22:36715566 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.720C>T (p.Arg240=) single nucleotide variant not provided [RCV000827578]|not specified [RCV000242833] Chr22:36321807 [GRCh38]
Chr22:36717852 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.5484-36G>A single nucleotide variant not specified [RCV000247608] Chr22:36284547 [GRCh38]
Chr22:36680593 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.5277C>T (p.Ile1759=) single nucleotide variant not provided [RCV000882879]|not specified [RCV000247728] Chr22:36285327 [GRCh38]
Chr22:36681373 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.5(MYH9):c.5061+30C>T single nucleotide variant not specified [RCV000245364] Chr22:36286688 [GRCh38]
Chr22:36682734 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.3837+37G>A single nucleotide variant not specified [RCV000250241] Chr22:36294055 [GRCh38]
Chr22:36690101 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.3486-32G>A single nucleotide variant not specified [RCV000250325] Chr22:36295108 [GRCh38]
Chr22:36691154 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.543G>A (p.Thr181=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000275864]|MYH9-related disorder [RCV000354263]|not provided [RCV000963405]|not specified [RCV000252678] Chr22:36326637 [GRCh38]
Chr22:36722682 [GRCh37]
Chr22:22q12.3
benign|likely benign|uncertain significance
NM_002473.5(MYH9):c.1728+47G>T single nucleotide variant not specified [RCV000243053] Chr22:36312002 [GRCh38]
Chr22:36708047 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.5247C>T (p.Asn1749=) single nucleotide variant not specified [RCV000243139] Chr22:36285685 [GRCh38]
Chr22:36681731 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.4276C>T (p.Leu1426=) single nucleotide variant not provided [RCV000918567]|not specified [RCV000252847] Chr22:36292054 [GRCh38]
Chr22:36688100 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.2871C>T (p.Ser957=) single nucleotide variant not provided [RCV000725873]|not specified [RCV000243282] Chr22:36300232 [GRCh38]
Chr22:36696278 [GRCh37]
Chr22:22q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.5(MYH9):c.3942+11C>T single nucleotide variant not specified [RCV000243327] Chr22:36293748 [GRCh38]
Chr22:36689794 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.3486-31G>C single nucleotide variant not specified [RCV000245804] Chr22:36295107 [GRCh38]
Chr22:36691153 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.5817C>T (p.Ala1939=) single nucleotide variant not specified [RCV000248142] Chr22:36282734 [GRCh38]
Chr22:36678780 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.2977-35C>G single nucleotide variant not specified [RCV000248229] Chr22:36299077 [GRCh38]
Chr22:36695123 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.165C>T (p.Ile55=) single nucleotide variant not provided [RCV000712366]|not specified [RCV000253083] Chr22:36349072 [GRCh38]
Chr22:36745117 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.5(MYH9):c.613-32C>T single nucleotide variant not specified [RCV000253121] Chr22:36322553 [GRCh38]
Chr22:36718598 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.3273-25C>T single nucleotide variant not specified [RCV000245938] Chr22:36295742 [GRCh38]
Chr22:36691788 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.769+30C>A single nucleotide variant not specified [RCV000250778] Chr22:36321728 [GRCh38]
Chr22:36717773 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.5(MYH9):c.*312C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000358656]|MYH9-related disorder [RCV000266279] Chr22:36282356 [GRCh38]
Chr22:36678402 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.4348C>T (p.Leu1450=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000304641]|MYH9-related disorder [RCV000359415] Chr22:36289294 [GRCh38]
Chr22:36685340 [GRCh37]
Chr22:22q12.3
benign|uncertain significance
NM_002473.5(MYH9):c.3677G>A (p.Arg1226Gln) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000271817]|MYH9-related disorder [RCV000326885] Chr22:36294252 [GRCh38]
Chr22:36690298 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.*1314C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000366504]|MYH9-related disorder [RCV000274254] Chr22:36281354 [GRCh38]
Chr22:36677400 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000332477]|MYH9-related disorder [RCV000275008]|not provided [RCV000880945]|not specified [RCV000607530] Chr22:36282674 [GRCh38]
Chr22:36678720 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.5(MYH9):c.*596G>A single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000294046]|MYH9-related disorder [RCV000385937] Chr22:36282072 [GRCh38]
Chr22:36678118 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.*800T>C single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000259642]|MYH9-related disorder [RCV000370334] Chr22:36281868 [GRCh38]
Chr22:36677914 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.1098C>T (p.Pro366=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000388514]|MYH9-related disorder [RCV000296755] Chr22:36319550 [GRCh38]
Chr22:36715595 [GRCh37]
Chr22:22q12.3
benign|likely benign|uncertain significance
NM_002473.5(MYH9):c.*474C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000297726]|MYH9-related disorder [RCV000336344] Chr22:36282194 [GRCh38]
Chr22:36678240 [GRCh37]
Chr22:22q12.3
benign|uncertain significance
NM_002473.5(MYH9):c.132C>T (p.Ala44=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000407910]|MYH9-related disorder [RCV000299680]|not specified [RCV000825781] Chr22:36349105 [GRCh38]
Chr22:36745150 [GRCh37]
Chr22:22q12.3
likely benign|uncertain significance
NM_002473.5(MYH9):c.-153C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000368737]|MYH9-related disorder [RCV000270144] Chr22:36387940 [GRCh38]
Chr22:36783985 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.5717C>T (p.Thr1906Met) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000343175]|MYH9-related disorder [RCV000392449] Chr22:36284141 [GRCh38]
Chr22:36680187 [GRCh37]
Chr22:22q12.3
benign|uncertain significance
NM_002473.5(MYH9):c.*243C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000269732]|MYH9-related disorder [RCV000327078] Chr22:36282425 [GRCh38]
Chr22:36678471 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.5(MYH9):c.1188G>A (p.Val396=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000306419]|MYH9-related disorder [RCV000363389] Chr22:36318246 [GRCh38]
Chr22:36714291 [GRCh37]
Chr22:22q12.3
benign|uncertain significance
NM_002473.5(MYH9):c.*81C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000306640]|MYH9-related disorder [RCV000404581] Chr22:36282587 [GRCh38]
Chr22:36678633 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.5(MYH9):c.4830C>T (p.Ala1610=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000307029]|MYH9-related disorder [RCV000270577] Chr22:36288354 [GRCh38]
Chr22:36684400 [GRCh37]
Chr22:22q12.3
benign|uncertain significance
NM_002473.5(MYH9):c.-182G>T single nucleotide variant MYH9-related disorder [RCV000271148]|Nonsyndromic Hearing Loss, Dominant [RCV000321606] Chr22:36387969 [GRCh38]
Chr22:36784014 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.*238G>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000273194]|MYH9-related disorder [RCV000383986] Chr22:36282430 [GRCh38]
Chr22:36678476 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.4391G>A (p.Arg1464His) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000308851]|MYH9-related disorder [RCV000405444] Chr22:36289251 [GRCh38]
Chr22:36685297 [GRCh37]
Chr22:22q12.3
benign|likely benign|uncertain significance
NM_002473.5(MYH9):c.*906G>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000367280]|MYH9-related disorder [RCV000310288] Chr22:36281762 [GRCh38]
Chr22:36677808 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.5(MYH9):c.420C>T (p.Gly140=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000274628]|MYH9-related disorder [RCV000327316] Chr22:36341440 [GRCh38]
Chr22:36737485 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.1899C>T (p.Pro633=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000327727]|MYH9-related disorder [RCV000274977] Chr22:36306552 [GRCh38]
Chr22:36702598 [GRCh37]
Chr22:22q12.3
benign|uncertain significance
NM_002473.5(MYH9):c.3371G>A (p.Arg1124His) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000367303]|MYH9-related disorder [RCV000312584] Chr22:36295619 [GRCh38]
Chr22:36691665 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.1479G>A (p.Gln493=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000312932]|MYH9-related disorder [RCV000392545]|not provided [RCV000726650]|not specified [RCV000591580] Chr22:36314220 [GRCh38]
Chr22:36710265 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.5(MYH9):c.*74G>A single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000363559]|MYH9-related disorder [RCV000271375] Chr22:36282594 [GRCh38]
Chr22:36678640 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.3838-11G>A single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000369861]|MYH9-related disorder [RCV000275172] Chr22:36293874 [GRCh38]
Chr22:36689920 [GRCh37]
Chr22:22q12.3
benign|uncertain significance
NM_002473.6(MYH9):c.1566G>A (p.Pro522=) single nucleotide variant not provided [RCV000726041]|not specified [RCV000311142] Chr22:36312211 [GRCh38]
Chr22:36708256 [GRCh37]
Chr22:22q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.5(MYH9):c.5271G>T (p.Leu1757=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000261364]|MYH9-related disorder [RCV000318892] Chr22:36285661 [GRCh38]
Chr22:36681707 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.-19-7C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000277603]|MYH9-related disorder [RCV000311678]|not specified [RCV000611560] Chr22:36349262 [GRCh38]
Chr22:36745307 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.5(MYH9):c.*748A>G single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000355567]|MYH9-related disorder [RCV000317200] Chr22:36281920 [GRCh38]
Chr22:36677966 [GRCh37]
Chr22:22q12.3
likely benign|uncertain significance
NM_002473.5(MYH9):c.1150G>A (p.Asp384Asn) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000375903]|MYH9-related disorder [RCV000319014] Chr22:36318284 [GRCh38]
Chr22:36714329 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.5456T>G (p.Leu1819Arg) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000394413]|MYH9-related disorder [RCV000368697]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000787013] Chr22:36285148 [GRCh38]
Chr22:36681194 [GRCh37]
Chr22:22q12.3
likely benign|uncertain significance
NM_002473.5(MYH9):c.*137C>A single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000280058]|MYH9-related disorder [RCV000372261] Chr22:36282531 [GRCh38]
Chr22:36678577 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.*1160del deletion MYH9-related disorder [RCV000373218]|Nonsyndromic Hearing Loss, Dominant [RCV000281011] Chr22:36281508 [GRCh38]
Chr22:36677554 [GRCh37]
Chr22:22q12.3
benign
NM_002473.5(MYH9):c.3605C>T (p.Ala1202Val) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000337020]|MYH9-related disorder [RCV000281921] Chr22:36294957 [GRCh38]
Chr22:36691003 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.5(MYH9):c.1578C>G (p.Ala526=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000282266]|MYH9-related disorder [RCV000374426] Chr22:36312199 [GRCh38]
Chr22:36708244 [GRCh37]
Chr22:22q12.3
benign|likely benign|uncertain significance
NM_002473.5(MYH9):c.3606G>A (p.Ala1202=) single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000321760]|MYH9-related disorder [RCV000376363]|not provided [RCV000944055] Chr22:36294956 [GRCh38]
Chr22:36691002 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.5(MYH9):c.*539G>A single nucleotide variant Autosomal dominant nonsyndromic deafness 17 [RCV000406102]|MYH9-related disorder [RCV000351544] Chr22:36282129 [GRCh38]
Chr22:36678175 [GRCh37]
Chr22:22q12.3