ClinVar Miner

List of variants in gene FLNC, LOC129999273 studied 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
		ClinVar version:

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001458.5(FLNC):c.2122-17T>C	rs144828462	0.00135
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)	rs192725607	0.00053
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn)	rs370035829	0.00020
NM_001458.5(FLNC):c.2139C>G (p.Pro713=)	rs746825094	0.00004
NM_001458.5(FLNC):c.2124C>T (p.Asp708=)	rs187481700	0.00003
NM_001458.5(FLNC):c.2130C>T (p.Asp710=)	rs778781499	0.00003
NM_001458.5(FLNC):c.2127C>T (p.Ala709=)	rs753225379	0.00001
NM_001458.5(FLNC):c.2141T>C (p.Ile714Thr)	rs1554398541	0.00001
NC_000007.14:g.(?_128830618)_(128858543_?)del
NM_001458.5(FLNC):c.2122-18C>T
NM_001458.5(FLNC):c.2122-6C>G	rs1808361488
NM_001458.5(FLNC):c.2122-9T>C	rs369054931
NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu)	rs187481700
NM_001458.5(FLNC):c.2125G>T (p.Ala709Ser)
NM_001458.5(FLNC):c.2130C>A (p.Asp710Glu)	rs778781499
NM_001458.5(FLNC):c.2131_2145del (p.Gly711_Asp715del)
NM_001458.5(FLNC):c.2140A>G (p.Ile714Val)
NM_001458.5(FLNC):c.2142C>A (p.Ile714=)	rs199595235
NM_001458.5(FLNC):c.2142C>G (p.Ile714Met)	rs199595235
NM_001458.5(FLNC):c.2142C>T (p.Ile714=)	rs199595235
NM_001458.5(FLNC):c.2145C>T (p.Asp715=)	rs1585157201
NM_001458.5(FLNC):c.2145_2146dup (p.Ile716fs)
NM_001458.5(FLNC):c.2146A>G (p.Ile716Val)	rs1808363671
NM_001458.5(FLNC):c.2148C>T (p.Ile716=)
NM_001458.5(FLNC):c.2149A>G (p.Lys717Glu)
NM_001458.5(FLNC):c.2150A>T (p.Lys717Met)
NM_001458.5(FLNC):c.2151G>A (p.Lys717=)

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