ClinVar for MedGen (Select 934716) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379372	NM_001458.5(FLNC):c.4040G>T (p.Gly1347Val)	FLNC (G1347V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
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 3362745	NM_001458.5(FLNC):c.4642G>C (p.Gly1548Arg)	FLNC (G1548R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 3338667	NM_001458.5(FLNC):c.4345T>C (p.Ser1449Pro)	FLNC (S1449P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3258072	NM_001458.5(FLNC):c.979del (p.Val327fs)	FLNC (V327fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
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 3255143	NM_001458.5(FLNC):c.4966C>G (p.Pro1656Ala)	FLNC (P1656A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3254668	NM_001458.5(FLNC):c.791C>G (p.Pro264Arg)	FLNC (P264R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3252097	NM_001458.5(FLNC):c.308C>A (p.Ala103Asp)	FLNC (A103D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3245795	NC_000007.13:g.(?_128494167)_(128545556_?)del	ATP6V1F, FLNC +1 more	Deletion	Hypertrophic cardiomyopathy 26 +3 more	GPathogenic
Select item 3245794	NC_000007.13:g.(?_128470692)_(128694824_?)del	ATP6V1F, FLNC +3 more	Deletion	Hypertrophic cardiomyopathy 26 +3 more	GPathogenic
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 3235170	NM_001458.5(FLNC):c.2554A>T (p.Ile852Phe)	FLNC (I852F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	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 3066133	NM_001458.5(FLNC):c.4588A>C (p.Lys1530Gln)	FLNC (K1530Q)	Single nucleotide variant (missense 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 3063599	NM_001458.5(FLNC):c.1372C>G (p.Pro458Ala)	FLNC (P458A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3062014	NM_001458.5(FLNC):c.1549+3_1549+4insT	FLNC	Insertion (intron variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 3024562	NM_001458.5(FLNC):c.4425G>T (p.Ala1475=)	FLNC	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26	GUncertain significance
Select item 2954520	NM_001458.5(FLNC):c.1830dup (p.Pro611fs)	FLNC (P611fs)	Duplication (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 2954490	NM_001458.5(FLNC):c.4738-15C>G	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2954489	NM_001458.5(FLNC):c.2884C>T (p.Pro962Ser)	FLNC (P962S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2954457	NM_001458.5(FLNC):c.5187del (p.Phe1730fs)	FLNC (F1730fs)	Deletion (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 2954445	NM_001458.5(FLNC):c.1250C>A (p.Pro417Gln)	FLNC (P417Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2954444	NM_001458.5(FLNC):c.1248C>A (p.Asp416Glu)	FLNC (D416E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2954439	NM_001458.5(FLNC):c.4458del (p.Val1487fs)	FLNC (V1487fs)	Deletion (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 2954371	NM_001458.5(FLNC):c.1756G>T (p.Val586Leu)	FLNC (V586L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2954322	NM_001458.5(FLNC):c.3936C>T (p.Tyr1312=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
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 2954162	NM_001458.5(FLNC):c.2691C>A (p.Ala897=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2954117	NM_001458.5(FLNC):c.300_301dup (p.Ser101fs)	FLNC (S101fs)	Microsatellite (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 2954110	NM_001458.5(FLNC):c.2550+3A>T	FLNC	Single nucleotide variant (intron 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 2954088	NM_001458.5(FLNC):c.4159A>C (p.Ile1387Leu)	FLNC (I1387L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
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 2953976	NM_001458.5(FLNC):c.352+1G>T	FLNC	Single nucleotide variant (splice donor variant)	Myofibrillar myopathy 5 +3 more	GLikely pathogenic
Select item 2953940	NM_001458.5(FLNC):c.825C>G (p.Pro275=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2953933	NM_001458.5(FLNC):c.420del (p.Tyr141fs)	FLNC (Y141fs)	Deletion (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 2953887	NM_001458.5(FLNC):c.1640T>C (p.Val547Ala)	FLNC (V547A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2953852	NM_001458.5(FLNC):c.804del (p.Arg269fs)	FLNC (R269fs)	Deletion (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 2953848	NM_001458.5(FLNC):c.2813G>C (p.Gly938Ala)	FLNC (G938A)	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 2953603	NM_001458.5(FLNC):c.273del (p.Phe92fs)	FLNC (F92fs)	Deletion (frameshift variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GPathogenic
Select item 2953547	NM_001458.5(FLNC):c.1411+8C>T	FLNC	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
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 2953529	NM_001458.5(FLNC):c.2099G>A (p.Gly700Glu)	FLNC (G700E)	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 2953445	NM_001458.5(FLNC):c.3107A>C (p.Tyr1036Ser)	FLNC (Y1036S)	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 2953350	NM_001458.5(FLNC):c.1644C>G (p.Thr548=)	FLNC	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
Select item 2953200	NM_001458.5(FLNC):c.622G>C (p.Ala208Pro)	FLNC (A208P)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2953138	NM_001458.5(FLNC):c.1810C>A (p.Leu604Met)	FLNC (L604M)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2953055	NM_001458.5(FLNC):c.2812-13T>C	FLNC	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
Select item 2952887	NM_001458.5(FLNC):c.1092dup (p.Glu365Ter)	FLNC (E365*)	Duplication (nonsense)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GPathogenic
Select item 2952852	NM_001458.5(FLNC):c.1503del (p.Lys502fs)	FLNC (K502fs)	Deletion (frameshift variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GPathogenic
Select item 2952773	NM_001458.5(FLNC):c.4127+5C>A	FLNC	Single nucleotide variant (intron 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 2952753	NM_001458.5(FLNC):c.2931_2938dup (p.Val980fs)	FLNC (V980fs)	Duplication (frameshift variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GPathogenic
Select item 2952722	NM_001458.5(FLNC):c.1026C>A (p.Pro342=)	FLNC	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
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 2952595	NM_001458.5(FLNC):c.4808T>C (p.Leu1603Pro)	FLNC (L1603P)	Single nucleotide variant (missense 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 2952432	NM_001458.5(FLNC):c.4806C>T (p.Tyr1602=)	FLNC	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
Select item 2952431	NM_001458.5(FLNC):c.4279C>T (p.Pro1427Ser)	FLNC (P1427S)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2952391	NM_001458.5(FLNC):c.2265+19C>G	FLNC	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
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 2952297	NM_001458.5(FLNC):c.2415C>G (p.Cys805Trp)	FLNC (C805W)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2952210	NM_001458.5(FLNC):c.406A>G (p.Thr136Ala)	FLNC (T136A)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
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 2951967	NM_001458.5(FLNC):c.297C>G (p.Asn99Lys)	FLNC (N99K)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2951966	NM_001458.5(FLNC):c.5199+14C>T	FLNC	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
Select item 2951948	NM_001458.5(FLNC):c.4927+13C>A	FLNC	Single nucleotide variant (intron 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 2951867	NM_001458.5(FLNC):c.4128-19G>A	FLNC	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
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 2951778	NM_001458.5(FLNC):c.1550-11C>A	FLNC	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
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 2951582	NM_001458.5(FLNC):c.860C>T (p.Pro287Leu)	FLNC (P287L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2951548	NM_001458.5(FLNC):c.4301G>C (p.Arg1434Pro)	FLNC (R1434P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2951409	NM_001458.5(FLNC):c.2735G>A (p.Gly912Asp)	FLNC (G912D)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
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 2951337	NM_001458.5(FLNC):c.153G>A (p.Lys51=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 2951328	NM_001458.5(FLNC):c.2812-8C>G	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2951311	NM_001458.5(FLNC):c.2907C>G (p.Ile969Met)	FLNC (I969M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2951298	NM_001458.5(FLNC):c.3996G>T (p.Glu1332Asp)	FLNC (E1332D)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2951238	NM_001458.5(FLNC):c.1646T>C (p.Ile549Thr)	FLNC (I549T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2951186	NM_001458.5(FLNC):c.2804_2807dup (p.Gln936fs)	FLNC (Q936fs)	Duplication (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
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 2951068	NM_001458.5(FLNC):c.4510del (p.His1504fs)	FLNC (H1504fs)	Deletion (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
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 2950966	NM_001458.5(FLNC):c.4288+22_4288+23dup	FLNC	Duplication (intron variant)	Myofibrillar myopathy 5 +3 more	GBenign
Select item 2950961	NM_001458.5(FLNC):c.4617C>T (p.Ala1539=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign

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