NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002504991.8
Allele description [Variation Report for NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)]
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)
Condition(s)
- Name:
- Dilated cardiomyopathy 1X (CMD1X)
- Synonyms:
- CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS; FKTN-Related Dilated Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012704; MedGen: C1969024; Orphanet: 154; OMIM: 611615
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)
- Synonyms:
- Fukuyama type muscular dystrophy; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009678; MedGen: C0410174; Orphanet: 588; Orphanet: 899; OMIM: 253800
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2M
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
- Identifiers:
- MONDO: MONDO:0012699; MedGen: C1969040; Orphanet: 206554; OMIM: 611588
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (MDDGA1)
- Synonyms:
- Hydrocephalus, agyria and retinal dysplasia; Hard +/- E syndrome; Warburg syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009364; MedGen: C4284790; Orphanet: 588; Orphanet: 899; OMIM: 236670
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 (MDDGB4)
- Synonyms:
- MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4
- Identifiers:
- MONDO: MONDO:0013156; MedGen: C2751052; OMIM: 613152
Assertion and evidence details
Last Updated: Dec 7, 2024