{{Rsnum
|rsid=80338831
|Chromosome=22
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=MYH9
|position=36292060
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=MYH9
}}{{omim
|id=160775
|rsnum=80338831
|variant=0005
}}
{{omim
|id=160775
|rsnum=80338831
|variant=0010
}}{{ClinVar
|rsid=80338831
|Reversed=1
|FwdREF=G
|FwdALT=A,C,T
|REF=C
|ALT=A,G,T
|RSPOS=36688106
|CHROM=22
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110104
|GENEINFO=MYH9:4627
|GENE_NAME=MYH9
|GENE_ID=4627
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000022.10:g.36688106C>A; NC_000022.10:g.36688106C>G; NC_000022.10:g.36688106C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK2689; 160775.0005; 160775.0010
|CLNCUI=.,C0403445,C0340978; C0403445; C1834478; C1854520
|CLNDBN=MYH9 related disorders; Fechtner syndrome; May-Hegglin anomaly; Macrothrombocytopenia and progressive sensorineural deafness; Sebastian syndrome
|Disease=MYH9 related disorders; Fechtner syndrome; May-Hegglin anomaly; Macrothrombocytopenia and progressive sensorineural deafness; Sebastian syndrome
|CLNACC=RCV000032224.1; RCV000015123.24; RCV000032223.1; RCV000015134.24; RCV000015135.24; RCV000015136.24; RCV000015137.20; RCV000032222.1
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM;NOV
|CLNDSDB=GeneReviews:MedGen; GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen:OMIM; MedGen:OMIM
|CLNDSDBID=NBK2689:CN073381; NBK2689:C0403445:153640:236422008; NBK2689:C0340978:155100; C1834478:600208; NBK2689:C1854520:605249
|CLNSIG=5
}}{{PMID Auto
|PMID=10973259
|Title=Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
}}

{{PMID Auto
|PMID=11093280
|Title=Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.
}}

{{PMID Auto
|PMID=11159552
|Title=Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).
}}

{{PMID Auto
|PMID=11590545
|Title=Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|OA=1
}}

{{PMID Auto
|PMID=12621333
|Title=Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
}}

{{PMID Auto
|PMID=12649151
|Title=Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
}}