NM_170707.4(LMNA):c.272C>T (p.Thr91Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002480424.1
Allele description [Variation Report for NM_170707.4(LMNA):c.272C>T (p.Thr91Ile)]
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile)
Condition(s)
- Name:
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Synonyms:
- CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM; Malouf syndrome; Congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008915; MedGen: C0796031; Orphanet: 2229; OMIM: 212112
- Name:
- Dilated cardiomyopathy 1A (CMD1A)
- Synonyms:
- CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200
- Name:
- Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
- Synonyms:
- CMT 2B1; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011569; MedGen: C1854154; Orphanet: 98856; OMIM: 605588
- Name:
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
- Synonyms:
- MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0021569; MedGen: C0410190; Orphanet: 261; Orphanet: 264; OMIM: 181350
- Name:
- Heart-hand syndrome, Slovenian type
- Identifiers:
- MONDO: MONDO:0012417; MedGen: C1857829; Orphanet: 168796; OMIM: 610140
- Name:
- Hutchinson-Gilford syndrome (HGPS)
- Synonyms:
- Progerin-producing progeroid laminopathy
- Identifiers:
- MONDO: MONDO:0008310; MedGen: C0033300; Orphanet: 740; OMIM: 176670
- Name:
- Familial partial lipodystrophy, Dunnigan type
- Synonyms:
- Familial partial lipodystrophy 2; Lipodystrophy, familial, of limbs and lower trunk; Lipodystrophy, reverse partial; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007906; MedGen: C1720860; Orphanet: 2348; OMIM: 151660
- Name:
- Mandibuloacral dysplasia with type A lipodystrophy (MADA)
- Synonyms:
- CRANIOMANDIBULAR DERMATODYSOSTOSIS; Lipodystrophy, type A, associated with mandibuloacral dysplasia
- Identifiers:
- MONDO: MONDO:0009557; MedGen: C5399785; Orphanet: 2457; OMIM: 248370
- Name:
- Congenital muscular dystrophy due to LMNA mutation
- Synonyms:
- Congenital muscular dystrophy, LMNA-related; Lamin A-related Congenital Muscular Dystrophy
- Identifiers:
- MONDO: MONDO:0013178; MedGen: C2750785; Orphanet: 157973; OMIM: 613205
Assertion and evidence details
Last Updated: Jul 29, 2024