Related gene-specific medical variations for Gene (Select 2318) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366987	NM_001458.5(FLNC):c.3838dup (p.Leu1280fs)	FLNC (L1280fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1A	GPathogenic
Select item 3366939	NM_001458.5(FLNC):c.5501A>C (p.His1834Pro)	FLNC, FLNC-AS1 (H1801P +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3365107	NM_001458.5(FLNC):c.7910A>C (p.Lys2637Thr)	FLNC, FLNC-AS1 (K2604T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363175	NM_001458.5(FLNC):c.6322T>A (p.Tyr2108Asn)	FLNC, FLNC-AS1 (Y2075N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3363171	NM_001458.5(FLNC):c.6317G>T (p.Gly2106Val)	FLNC, FLNC-AS1 (G2073V +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3362745	NM_001458.5(FLNC):c.4642G>C (p.Gly1548Arg)	FLNC (G1548R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 3362209	NM_001458.5(FLNC):c.4351C>T (p.Pro1451Ser)	FLNC (P1451S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362026	NM_001458.5(FLNC):c.7562G>A (p.Gly2521Asp)	FLNC (G2488D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360927	NM_001458.5(FLNC):c.2234G>A (p.Gly745Glu)	FLNC (G745E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359890	NM_001458.5(FLNC):c.7759C>T (p.Pro2587Ser)	FLNC (P2554S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344891	NM_001458.5(FLNC):c.5990C>A (p.Pro1997His)	FLNC, FLNC-AS1 (P1964H +1 more)	Single nucleotide variant (missense variant)	FLNC-related disorder	GUncertain significance
Select item 3342972	NM_001458.5(FLNC):c.7888A>T (p.Lys2630Ter)	FLNC, FLNC-AS1 (K2597* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3342743	NM_001458.5(FLNC):c.6258del (p.Asn2087fs)	FLNC, FLNC-AS1 (N2054fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3342742	NM_001458.5(FLNC):c.5754del (p.Leu1919fs)	FLNC, FLNC-AS1 (L1886fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3340710	NM_001458.5(FLNC):c.7665T>A (p.Cys2555Ter)	FLNC, FLNC-AS1 (C2522* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3339416	NM_001458.5(FLNC):c.6589C>G (p.Arg2197Gly)	FLNC, FLNC-AS1 (R2164G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337123	NM_001458.5(FLNC):c.7484G>T (p.Arg2495Leu)	FLNC, FLNC-AS1 (R2462L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337122	NM_001458.5(FLNC):c.6790G>A (p.Ala2264Thr)	FLNC, FLNC-AS1 (A2231T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279232	NM_001458.5(FLNC):c.6672C>A (p.Asp2224Glu)	FLNC, FLNC-AS1 (D2191E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279231	NM_001458.5(FLNC):c.6469A>C (p.Asn2157His)	FLNC-AS1, FLNC (N2124H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279224	NM_001458.5(FLNC):c.8115C>A (p.Ile2705=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 3279220	NM_001458.5(FLNC):c.8131G>C (p.Gly2711Arg)	FLNC-AS1, FLNC (G2678R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 3279218	NM_001458.5(FLNC):c.5778C>T (p.Tyr1926=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3279215	NM_001458.5(FLNC):c.5620G>A (p.Val1874Ile)	FLNC, FLNC-AS1 (V1841I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279210	NM_001458.5(FLNC):c.6865G>T (p.Ala2289Ser)	FLNC, FLNC-AS1 (A2289S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3279208	NM_001458.5(FLNC):c.6211T>A (p.Tyr2071Asn)	FLNC, FLNC-AS1 (Y2071N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279206	NM_001458.5(FLNC):c.7385-2A>G	FLNC, FLNC-AS1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3279205	NM_001458.5(FLNC):c.7732G>C (p.Gly2578Arg)	FLNC, FLNC-AS1 (G2578R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3279204	NM_001458.5(FLNC):c.6380_6385del (p.Lys2127_Val2128del)	FLNC, FLNC-AS1	Deletion (inframe_deletion)	Cardiovascular phenotype	GUncertain significance
Select item 3279203	NM_001458.5(FLNC):c.6083C>G (p.Pro2028Arg)	FLNC, FLNC-AS1 (P2028R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3255151	NM_001458.5(FLNC):c.7745A>G (p.His2582Arg)	FLNC, FLNC-AS1 (H2549R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3255150	NM_001458.5(FLNC):c.6300C>G (p.Tyr2100Ter)	FLNC, FLNC-AS1 (Y2067* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GPathogenic
Select item 3255148	NM_001458.5(FLNC):c.7366G>C (p.Val2456Leu)	FLNC, FLNC-AS1 (V2423L +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement	GUncertain significance
Select item 3236021	NM_001458.5(FLNC):c.7627G>C (p.Asp2543His)	FLNC, FLNC-AS1 (D2510H +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3234535	NM_001458.5(FLNC):c.6078C>T (p.Asn2026=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3221757	NM_001458.5(FLNC):c.8039A>G (p.Glu2680Gly)	FLNC, FLNC-AS1 (E2647G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221753	NM_001458.5(FLNC):c.7051G>A (p.Val2351Met)	FLNC, FLNC-AS1 (V2318M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221751	NM_001458.5(FLNC):c.6872A>G (p.Lys2291Arg)	FLNC, FLNC-AS1 (K2258R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221749	NM_001458.5(FLNC):c.6545G>A (p.Ser2182Asn)	FLNC, FLNC-AS1 (S2149N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221748	NM_001458.5(FLNC):c.6381G>C (p.Lys2127Asn)	FLNC, FLNC-AS1 (K2094N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221747	NM_001458.5(FLNC):c.6337_6338del (p.Lys2113fs)	FLNC, FLNC-AS1 (K2080fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3221746	NM_001458.5(FLNC):c.6305C>T (p.Pro2102Leu)	FLNC, FLNC-AS1 (P2069L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221745	NM_001458.5(FLNC):c.6276G>A (p.Glu2092=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3221744	NM_001458.5(FLNC):c.6047G>T (p.Ser2016Ile)	FLNC, FLNC-AS1 (S1983I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221743	NM_001458.5(FLNC):c.6003T>C (p.Ile2001=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3221742	NM_001458.5(FLNC):c.5819G>A (p.Ser1940Asn)	FLNC, FLNC-AS1 (S1907N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221740	NM_001458.5(FLNC):c.5673T>C (p.Gly1891=)	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3221739	NM_001458.5(FLNC):c.5615G>T (p.Gly1872Val)	FLNC, FLNC-AS1 (G1839V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221738	NM_001458.5(FLNC):c.5612A>T (p.His1871Leu)	FLNC, FLNC-AS1 (H1838L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221710	NM_001458.5(FLNC):c.2133C>T (p.Gly711=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3095673	NM_001458.5(FLNC):c.7787G>A (p.Arg2596Lys)	FLNC, FLNC-AS1 (R2596K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3068249	NM_001458.5(FLNC):c.86C>A (p.Ala29Glu)	FLNC (A29E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 3068179	NM_001458.5(FLNC):c.6149_6150dup (p.Leu2051fs)	FLNC, FLNC-AS1 (L2018fs +1 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3065100	NM_001458.5(FLNC):c.3527T>G (p.Phe1176Cys)	FLNC (F1176C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3061057	NM_001458.5(FLNC):c.6052C>A (p.Arg2018Ser)	FLNC, FLNC-AS1 (R1985S +1 more)	Single nucleotide variant (missense variant)	FLNC-related disorder	GUncertain significance
Select item 3032844	NM_001458.5(FLNC):c.6005-5C>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	FLNC-related disorder	GLikely benign
Select item 3027265	NM_001458.5(FLNC):c.7244G>C (p.Ser2415Thr)	FLNC, FLNC-AS1 (S2382T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027264	NM_001458.5(FLNC):c.7187C>T (p.Pro2396Leu)	FLNC, FLNC-AS1 (P2363L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954187	NM_001458.5(FLNC):c.7696A>G (p.Met2566Val)	FLNC, FLNC-AS1 (M2566V +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2954099	NM_001458.5(FLNC):c.8169G>A (p.Lys2723=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2953982	NM_001458.5(FLNC):c.5459G>A (p.Gly1820Asp)	FLNC, FLNC-AS1 (G1820D +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2953798	NM_001458.5(FLNC):c.6209G>A (p.Gly2070Asp)	FLNC, FLNC-AS1 (G2070D +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2953784	NM_001458.5(FLNC):c.6209-15C>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2953748	NM_001458.5(FLNC):c.5802C>T (p.Asp1934=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2953652	NM_001458.5(FLNC):c.7273_7274insTTCAC (p.Gln2425fs)	FLNC, FLNC-AS1 (Q2392fs +1 more)	Insertion (frameshift variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GPathogenic
Select item 2953605	NM_001458.5(FLNC):c.6937G>A (p.Gly2313Ser)	FLNC, FLNC-AS1 (G2313S +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2953544	NM_001458.5(FLNC):c.6492G>C (p.Trp2164Cys)	FLNC, FLNC-AS1 (W2131C +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2953528	NM_001458.5(FLNC):c.7728G>T (p.Lys2576Asn)	FLNC, FLNC-AS1 (K2543N +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2953353	NM_001458.5(FLNC):c.6574G>A (p.Glu2192Lys)	FLNC, FLNC-AS1 (E2192K +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2952758	NM_001458.5(FLNC):c.6999C>G (p.Ala2333=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
Select item 2952757	NM_001458.5(FLNC):c.6998_6999insATCT (p.Glu2334fs)	FLNC, FLNC-AS1 (E2334fs +1 more)	Insertion (frameshift variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GPathogenic
Select item 2952688	NM_001458.5(FLNC):c.6362-3C>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2952493	NM_001458.5(FLNC):c.5690A>G (p.Glu1897Gly)	FLNC, FLNC-AS1 (E1897G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2952298	NM_001458.5(FLNC):c.8103_8104del (p.Asp2703fs)	FLNC, FLNC-AS1 (D2703fs +1 more)	Deletion (frameshift variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GPathogenic
Select item 2952047	NM_001458.5(FLNC):c.5547C>T (p.Pro1849=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
Select item 2951887	NM_001458.5(FLNC):c.6416C>G (p.Thr2139Ser)	FLNC, FLNC-AS1 (T2139S +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2951806	NM_001458.5(FLNC):c.7551_7552del (p.Gly2518fs)	FLNC, FLNC-AS1 (G2485fs +1 more)	Deletion (frameshift variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GPathogenic
Select item 2951619	NM_001458.5(FLNC):c.8007G>A (p.Met2669Ile)	FLNC, FLNC-AS1 (M2636I +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2951615	NM_001458.5(FLNC):c.7384+12C>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2951588	NM_001458.5(FLNC):c.6005-14C>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2951338	NM_001458.5(FLNC):c.7421G>T (p.Gly2474Val)	FLNC, FLNC-AS1 (G2441V +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2951154	NM_001458.5(FLNC):c.5581C>T (p.His1861Tyr)	FLNC, FLNC-AS1 (H1828Y +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2950983	NM_001458.5(FLNC):c.6160G>T (p.Gly2054Ter)	FLNC, FLNC-AS1 (G2054* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 2950955	NM_001458.5(FLNC):c.7597G>A (p.Ala2533Thr)	FLNC, FLNC-AS1 (A2533T +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2950813	NM_001458.5(FLNC):c.6496C>T (p.Gln2166Ter)	FLNC, FLNC-AS1 (Q2133* +1 more)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 2950515	NM_001458.5(FLNC):c.6924G>T (p.Pro2308=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2950451	NM_001458.5(FLNC):c.7991-16C>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2950395	NM_001458.5(FLNC):c.5547C>G (p.Pro1849=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
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 2949729	NM_001458.5(FLNC):c.8078A>T (p.Asn2693Ile)	FLNC-AS1, FLNC (N2660I +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2949675	NM_001458.5(FLNC):c.7439T>G (p.Val2480Gly)	FLNC, FLNC-AS1 (V2447G +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2949349	NM_001458.5(FLNC):c.6421C>A (p.Arg2141=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2949322	NM_001458.5(FLNC):c.7553G>A (p.Gly2518Asp)	FLNC, FLNC-AS1 (G2485D +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2949084	NM_001458.5(FLNC):c.5845_5848dup (p.Asp1950delinsGlyTer)	FLNC-AS1, FLNC	Duplication (nonsense)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 2948924	NM_001458.5(FLNC):c.6510C>A (p.Ala2170=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2948838	NM_001458.5(FLNC):c.6012C>G (p.Ser2004=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2948229	NM_001458.5(FLNC):c.7690A>C (p.Thr2564Pro)	FLNC, FLNC-AS1 (T2531P +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2947562	NM_001458.5(FLNC):c.7276_7281del (p.Pro2426_Ala2427del)	FLNC, FLNC-AS1	Deletion (inframe_deletion)	Myofibrillar myopathy 5 +3 more	GUncertain significance

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