NM_001458.5(FLNC):c.4564del (p.Gln1522fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001999805.3
Allele description [Variation Report for NM_001458.5(FLNC):c.4564del (p.Gln1522fs)]
NM_001458.5(FLNC):c.4564del (p.Gln1522fs)
Condition(s)
- Name:
- Myofibrillar myopathy 5
- Synonyms:
- FILAMINOPATHY, AUTOSOMAL DOMINANT; Myofibrillar myopathy, filamin C-related; Filaminopathy (type)
- Identifiers:
- MONDO: MONDO:0012289; MedGen: C1836050; OMIM: 609524
- Name:
- Distal myopathy with posterior leg and anterior hand involvement
- Synonyms:
- WILLIAMS DISTAL MYOPATHY; Myopathy, distal, 4
- Identifiers:
- MONDO: MONDO:0013550; MedGen: C3279722; Orphanet: 63273; OMIM: 614065
- Name:
- Hypertrophic cardiomyopathy 26
- Synonyms:
- Cardiomyopathy, familial hypertrophic, 26
- Identifiers:
- MONDO: MONDO:0014883; MedGen: C4310749; Orphanet: 75249; OMIM: 617047
- Name:
- Dilated Cardiomyopathy, Dominant
- Identifiers:
- MedGen: CN239310
-
PREDICTED: Chlorocebus sabaeus CD109 molecule (CD109), mRNA
PREDICTED: Chlorocebus sabaeus CD109 molecule (CD109), mRNAgi|1938904767|ref|XM_037987090.1|Nucleotide
-
Homo sapiens cullin associated and neddylation dissociated 2 (putative) (CAND2),...
Homo sapiens cullin associated and neddylation dissociated 2 (putative) (CAND2), transcript variant 2, mRNAgi|1675176173|ref|NM_012298.3|Nucleotide
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Last Updated: Feb 28, 2024