ClinVar Miner

List of variants in gene FLNC reported as not provided for autosomal dominant distal myopathy

Included ClinVar conditions (33):

Amyotrophic lateral sclerosis type 21
Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy
Cardiomyopathy, familial restrictive, 1; Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement
Dilated cardiomyopathy 1C; Myofibrillar myopathy 4
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Distal myopathy with posterior leg and anterior hand involvement
Distal myopathy, Tateyama type
Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type
Finnish upper limb-onset distal myopathy
Myofibrillar myopathy 2
Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II
Myofibrillar myopathy 3
Myofibrillar myopathy 4
Myofibrillar myopathy 5; Desmin-related myofibrillar myopathy; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant
Myofibrillar myopathy 5; Primary familial hypertrophic cardiomyopathy; Distal myopathy with posterior leg and anterior hand involvement
Myopathy, myofibrillar, 9, with early respiratory failure
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal recessive centronuclear myopathy
Primary dilated cardiomyopathy; Myopathy, centronuclear, 2; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
Rippling muscle disease 2; Distal myopathy, Tateyama type
Tibial muscular dystrophy
Welander distal myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg)	rs751650734	0.00015
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)	rs374124083	0.00014
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp)	rs762095761	0.00001
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu)	rs975517733
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)	rs387906587
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs)	rs1554402003

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