FLNC-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 584412	NC_000007.14:g.(?_128830618)_(128858543_?)del	FLNC, FLNC-AS1 +1 more	Deletion	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 2943059	NM_001458.5(FLNC):c.5299-16del	FLNC, FLNC-AS1	Deletion (non-coding transcript variant +1 more)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2039630	NM_001458.5(FLNC):c.5299-17C>G	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 508233	NM_001458.5(FLNC):c.5299-16C>T	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Myofibrillar myopathy 5 +4 more	GBenign/Likely benign
Select item 1584578	NM_001458.5(FLNC):c.5299-14C>T	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 26 +3 more	GLikely benign
Select item 1575326	NM_001458.5(FLNC):c.5299-13T>A	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 26 +3 more	GLikely benign
Select item 1080356	NM_001458.5(FLNC):c.5299-10C>T	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 26 +3 more	GLikely benign
Select item 539463	NM_001458.5(FLNC):c.5299-9C>T	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
Select item 1297500	NM_001458.5(FLNC):c.5306_5314del (p.Glu1769_Pro1771del)	FLNC, FLNC-AS1	Deletion (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 943920	NM_001458.5(FLNC):c.5303C>G (p.Thr1768Arg)	FLNC, FLNC-AS1 (T1735R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2934045	NM_001458.5(FLNC):c.5304A>G (p.Thr1768=)	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 26 +3 more	GLikely benign
Select item 2924905	NM_001458.5(FLNC):c.5304A>C (p.Thr1768=)	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GLikely benign
Select item 2000744	NM_001458.5(FLNC):c.5306A>G (p.Glu1769Gly)	FLNC, FLNC-AS1 (E1736G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 26 +3 more	GUncertain significance
Select item 2949738	NM_001458.5(FLNC):c.5307G>A (p.Glu1769=)	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 1002271	NM_001458.5(FLNC):c.5307G>C (p.Glu1769Asp)	FLNC, FLNC-AS1 (E1736D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 26 +3 more	GUncertain significance
Select item 506848	NM_001458.5(FLNC):c.5310G>A (p.Glu1770=)	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +6 more	GLikely benign
Select item 2944329	NM_001458.5(FLNC):c.5311C>A (p.Pro1771Thr)	FLNC, FLNC-AS1 (P1771T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 389705	NM_001458.5(FLNC):c.5311C>G (p.Pro1771Ala)	FLNC, FLNC-AS1 (P1771A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 1922100	NM_001458.5(FLNC):c.5317G>A (p.Val1773Met)	FLNC, FLNC-AS1 (V1773M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 1021771	NM_001458.5(FLNC):c.5320C>T (p.Pro1774Ser)	FLNC, FLNC-AS1 (P1741S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1447356	NM_001458.5(FLNC):c.5321C>G (p.Pro1774Arg)	FLNC, FLNC-AS1 (P1741R +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2922743	NM_001458.5(FLNC):c.5322T>C (p.Pro1774=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 2944517	NM_001458.5(FLNC):c.5323G>T (p.Val1775Leu)	FLNC, FLNC-AS1 (V1742L +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2926662	NM_001458.5(FLNC):c.5323G>A (p.Val1775Met)	FLNC, FLNC-AS1 (V1775M +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1597881	NM_001458.5(FLNC):c.5328G>A (p.Glu1776=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 1126183	NM_001458.5(FLNC):c.5331A>G (p.Pro1777=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 854577	NM_001458.5(FLNC):c.5332A>G (p.Met1778Val)	FLNC, FLNC-AS1 (M1778V +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 3279219	NM_001458.5(FLNC):c.5333T>C (p.Met1778Thr)	FLNC, FLNC-AS1 (M1778T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 944329	NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter)	FLNC, FLNC-AS1 (E1779* +1 more)	Single nucleotide variant (nonsense)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GPathogenic
Select item 2946076	NM_001458.5(FLNC):c.5339C>A (p.Ser1780Tyr)	FLNC, FLNC-AS1 (S1780Y +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1500789	NM_001458.5(FLNC):c.5341A>G (p.Met1781Val)	FLNC, FLNC-AS1 (M1748V +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +4 more	GUncertain significance
Select item 539384	NM_001458.5(FLNC):c.5343G>A (p.Met1781Ile)	FLNC, FLNC-AS1 (M1781I +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 1609195	NM_001458.5(FLNC):c.5352C>T (p.Pro1784=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 642581	NM_001458.5(FLNC):c.5353T>A (p.Phe1785Ile)	FLNC, FLNC-AS1 (F1752I +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GUncertain significance
Select item 849392	NM_001458.5(FLNC):c.5354T>C (p.Phe1785Ser)	FLNC, FLNC-AS1 (F1752S +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 2194657	NM_001458.5(FLNC):c.5358C>T (p.Asn1786=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 950161	NM_001458.5(FLNC):c.5358C>G (p.Asn1786Lys)	FLNC, FLNC-AS1 (N1753K +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 2565537	NM_001458.5(FLNC):c.5359C>T (p.Leu1787=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2945350	NM_001458.5(FLNC):c.5360del (p.Leu1787fs)	FLNC, FLNC-AS1 (L1787fs +1 more)	Deletion (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 952564	NM_001458.5(FLNC):c.5362G>T (p.Val1788Phe)	FLNC, FLNC-AS1 (V1755F +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 572468	NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly)	FLNC, FLNC-AS1 (V1788G +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1939623	NM_001458.5(FLNC):c.5365A>G (p.Ile1789Val)	FLNC, FLNC-AS1 (I1756V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1747088	NM_001458.5(FLNC):c.5367C>A (p.Ile1789=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 539475	NM_001458.5(FLNC):c.5367C>T (p.Ile1789=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1644278	NM_001458.5(FLNC):c.5370C>T (p.Pro1790=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 1474683	NM_001458.5(FLNC):c.5372T>A (p.Phe1791Tyr)	FLNC, FLNC-AS1 (F1791Y +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 472102	NM_001458.5(FLNC):c.5373C>T (p.Phe1791=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +5 more	GLikely benign
Select item 258147	NM_001458.5(FLNC):c.5374G>A (p.Ala1792Thr)	FLNC, FLNC-AS1 (A1792T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GLikely benign
Select item 196774	NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val)	FLNC, FLNC-AS1 (A1792V +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 1747126	NM_001458.5(FLNC):c.5376G>C (p.Ala1792=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 539373	NM_001458.5(FLNC):c.5376G>A (p.Ala1792=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 129092	NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)	FLNC, FLNC-AS1 (V1793M +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 1592722	NM_001458.5(FLNC):c.5379G>A (p.Val1793=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 1338863	NM_001458.5(FLNC):c.5385dup (p.Gly1796fs)	FLNC, FLNC-AS1 (G1763fs +1 more)	Duplication (frameshift variant)	Spastic ataxia +1 more	GPathogenic
Select item 1069652	NM_001458.5(FLNC):c.5389dup (p.Glu1797fs)	FLNC, FLNC-AS1 (E1764fs +1 more)	Duplication (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 1102466	NM_001458.5(FLNC):c.5388G>C (p.Gly1796=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +4 more	GLikely benign
Select item 2148553	NM_001458.5(FLNC):c.5391G>A (p.Glu1797=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 957429	NM_001458.5(FLNC):c.5395A>C (p.Thr1799Pro)	FLNC, FLNC-AS1 (T1766P +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 841512	NM_001458.5(FLNC):c.5397A>C (p.Thr1799=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +4 more	GLikely benign
Select item 1497561	NM_001458.5(FLNC):c.5398G>A (p.Gly1800Arg)	FLNC, FLNC-AS1 (G1767R +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 835098	NM_001458.5(FLNC):c.5398+1G>C	FLNC, FLNC-AS1	Single nucleotide variant (splice donor variant)	Myofibrillar myopathy 5 +3 more	GLikely pathogenic
Select item 701959	NM_001458.5(FLNC):c.5398+6G>C	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GLikely benign
Select item 2930591	NM_001458.5(FLNC):c.5398+11G>A	FLNC-AS1, FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 1556377	NM_001458.5(FLNC):c.5398+12T>G	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 26 +3 more	GLikely benign
Select item 258148	NM_001458.5(FLNC):c.5398+16T>C	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 2929101	NM_001458.5(FLNC):c.5398+20A>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 678400	NM_001458.5(FLNC):c.5399-91G>A	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284598	NM_001458.5(FLNC):c.5399-17C>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2926979	NM_001458.5(FLNC):c.5399-13_5399-12del	FLNC, FLNC-AS1	Microsatellite (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2924332	NM_001458.5(FLNC):c.5399-16T>C	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 1504092	NM_001458.5(FLNC):c.5399-12_5399-9del	FLNC, FLNC-AS1	Deletion (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1955558	NM_001458.5(FLNC):c.5399-8C>A	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 1131485	NM_001458.5(FLNC):c.5399-8C>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 3279223	NM_001458.5(FLNC):c.5399-3C>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1477916	NM_001458.5(FLNC):c.5399-2A>C	FLNC, FLNC-AS1	Single nucleotide variant (splice acceptor variant)	Myofibrillar myopathy 5 +3 more	GLikely pathogenic
Select item 2107251	NM_001458.5(FLNC):c.5399-1G>A	FLNC, FLNC-AS1	Single nucleotide variant (splice acceptor variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely pathogenic
Select item 2575582	NM_001458.5(FLNC):c.5405T>C (p.Val1802Ala)	FLNC, FLNC-AS1 (V1769A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687668	NM_001458.5(FLNC):c.5407C>A (p.Arg1803=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1000145	NM_001458.5(FLNC):c.5407C>T (p.Arg1803Trp)	FLNC, FLNC-AS1 (R1770W +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GConflicting classifications of pathogenicity
Select item 641657	NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln)	FLNC, FLNC-AS1 (R1770Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 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 1747382	NM_001458.5(FLNC):c.5411T>G (p.Met1804Arg)	FLNC-AS1, FLNC (M1804R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2936805	NM_001458.5(FLNC):c.5412G>C (p.Met1804Ile)	FLNC, FLNC-AS1 (M1804I +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1046036	NM_001458.5(FLNC):c.5412G>A (p.Met1804Ile)	FLNC, FLNC-AS1 (M1804I +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 1013722	NM_001458.5(FLNC):c.5413C>A (p.Pro1805Thr)	FLNC, FLNC-AS1 (P1772T +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 871492	NM_001458.5(FLNC):c.5413C>T (p.Pro1805Ser)	FLNC, FLNC-AS1 (P1805S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1060860	NM_001458.5(FLNC):c.5414C>T (p.Pro1805Leu)	FLNC, FLNC-AS1 (P1772L +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +3 more	GUncertain significance
Select item 1219760	NM_001458.5(FLNC):c.5416T>C (p.Ser1806Pro)	FLNC, FLNC-AS1 (S1773P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1747394	NM_001458.5(FLNC):c.5417C>A (p.Ser1806Ter)	FLNC, FLNC-AS1 (S1773* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 1358749	NM_001458.5(FLNC):c.5417C>T (p.Ser1806Leu)	FLNC, FLNC-AS1 (S1806L +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance

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