NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000515361.4
Allele description [Variation Report for NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)]
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 1
- Synonyms:
- Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600
- Name:
- Myopathy, myosin storage, autosomal recessive (CMYO7B)
- Synonyms:
- CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
- Identifiers:
- MONDO: MONDO:0009708; MedGen: C1850709; OMIM: 255160
- Name:
- Myosin storage myopathy (CMYO7A)
- Synonyms:
- MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; Scapuloperoneal myopathy, MYH7-related; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008409; MedGen: C1842160; Orphanet: 437572; OMIM: 608358
- Name:
- Congenital myopathy with fiber type disproportion
- Synonyms:
- Congenital fiber-type disproportion myopathy; Congenital Fiber-Type Disproportion
- Identifiers:
- MONDO: MONDO:0009711; MedGen: C0546264; Orphanet: 2020
- Name:
- Dilated cardiomyopathy 1S (CMD1S)
- Identifiers:
- MONDO: MONDO:0013262; MedGen: C1834481; Orphanet: 154; Orphanet: 54260; OMIM: 613426
- Name:
- MYH7-related skeletal myopathy
- Synonyms:
- MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, distal, 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008050; MedGen: C4552004; Orphanet: 59135; OMIM: 160500
Assertion and evidence details
Last Updated: Oct 8, 2024