"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FLNC-AS1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129092	NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)	FLNC-AS1, FLNC (V1793M +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 661551	NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu)	FLNC-AS1, FLNC (M1804L +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 959931	NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp)	FLNC, FLNC-AS1 (R1778W +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 582215	NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln)	FLNC, FLNC-AS1 (R1811Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 539431	NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del)	FLNC, FLNC-AS1 (N1817del +1 more)	Microsatellite (inframe_deletion)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GUncertain significance
Select item 1470479	NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser)	FLNC, FLNC-AS1 (G1787S +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GConflicting classifications of pathogenicity
Select item 569766	NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)	FLNC, FLNC-AS1 (T1823M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1627658	NM_001458.5(FLNC):c.5580C>G (p.Arg1860=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
Select item 472111	NM_001458.5(FLNC):c.5792G>A (p.Arg1931His)	FLNC, FLNC-AS1 (R1931H +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 1536765	NM_001458.5(FLNC):c.5842+12G>A	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 26 +3 more	GLikely benign
Select item 539451	NM_001458.5(FLNC):c.5889G>A (p.Thr1963=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 839809	NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr)	FLNC, FLNC-AS1 (A1979T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 472118	NM_001458.5(FLNC):c.5984G>A (p.Arg1995His)	FLNC, FLNC-AS1 (R1995H +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GConflicting classifications of pathogenicity
Select item 472119	NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln)	FLNC, FLNC-AS1 (R1999Q +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 765399	NM_001458.5(FLNC):c.6135G>C (p.Arg2045=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26 +3 more	GLikely benign
Select item 197029	NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 859711	NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser)	FLNC, FLNC-AS1 (T2092S +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 472134	NM_001458.5(FLNC):c.6419G>A (p.Arg2140Gln)	FLNC, FLNC-AS1 (R2140Q +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1676876	NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys)	FLNC, FLNC-AS1 (R2154C +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 1284570	NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu)	FLNC, FLNC-AS1 (R2206L +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 450440	NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile)	FLNC, FLNC-AS1 (V2267I +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 472149	NM_001458.5(FLNC):c.6878G>A (p.Arg2293His)	FLNC, FLNC-AS1 (R2293H +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GConflicting classifications of pathogenicity
Select item 664067	NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)	FLNC, FLNC-AS1 (R2364C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 432546	NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)	FLNC, FLNC-AS1 (G2370S +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 472161	NM_001458.5(FLNC):c.7136-6C>A	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +4 more	GLikely benign
Select item 472162	NM_001458.5(FLNC):c.7185C>T (p.Ser2395=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 967275	NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)	FLNC, FLNC-AS1 (R2377C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 197502	NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)	FLNC, FLNC-AS1 (A2430V +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 539381	NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)	FLNC, FLNC-AS1 (R2437Q +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 472168	NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln)	FLNC-AS1, FLNC (R2443Q +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GConflicting classifications of pathogenicity
Select item 782223	NM_001458.5(FLNC):c.7434C>T (p.Ile2478=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 472172	NM_001458.5(FLNC):c.7449C>T (p.Asn2483=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +4 more	GLikely benign
Select item 472173	NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser)	FLNC, FLNC-AS1 (G2484S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 445970	NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe)	FLNC, FLNC-AS1 (L2538F +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GBenign/Likely benign
Select item 577268	NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp)	FLNC, FLNC-AS1 (R2553W +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GUncertain significance
Select item 640401	NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met)	FLNC, FLNC-AS1 (T2575M +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 949895	NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser)	FLNC, FLNC-AS1 (F2649S +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GUncertain significance
Select item 575164	NM_001458.5(FLNC):c.7948G>A (p.Val2650Met)	FLNC, FLNC-AS1 (V2650M +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +5 more	GUncertain significance
Select item 647419	NM_001458.5(FLNC):c.8069G>A (p.Arg2690Gln)	FLNC, FLNC-AS1 (R2690Q +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GUncertain significance
Select item 1674710	NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=)	FLNC, FLNC-AS1	Indel (synonymous variant)	Myofibrillar myopathy 5 +4 more	GBenign/Likely benign

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Items: 40