ClinVar for MedGen (Select 934716) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24460441.	NM_001458.5(FLNC):c.5199+1G>A GRCh37: Chr7:128489633 GRCh38: Chr7:128849579	FLNC		Hypertrophic cardiomyopathy 26	Likely pathogenic (Mar 13, 2023)	criteria provided, single submitter
Select item 24442302.	NM_001458.5(FLNC):c.3343_3344insT (p.Gly1115fs) GRCh37: Chr7:128484862-128484863 GRCh38: Chr7:128844808-128844809	FLNC	G1115fs	Hypertrophic cardiomyopathy 26	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24416513.	NM_001458.5(FLNC):c.7925del (p.Gly2642fs) GRCh37: Chr7:128498203 GRCh38: Chr7:128858149	FLNC-AS1, FLNC	G2609fs, G2642fs	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Likely pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 24416374.	NM_001458.5(FLNC):c.46dup (p.Asp16fs) GRCh37: Chr7:128470736-128470737 GRCh38: Chr7:128830682-128830683	FLNC	D16fs	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Likely pathogenic (Jan 15, 2021)	criteria provided, single submitter
Select item 24283195.	NM_001458.5(FLNC):c.3629G>A (p.Gly1210Asp) GRCh37: Chr7:128485148 GRCh38: Chr7:128845094	FLNC	G1210D	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 24281756.	NM_001458.5(FLNC):c.6136G>A (p.Val2046Ile) GRCh37: Chr7:128493013 GRCh38: Chr7:128852959	FLNC, FLNC-AS1	V2013I, V2046I	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 24266457.	NM_001458.5(FLNC):c.7780+19G>A GRCh37: Chr7:128497409 GRCh38: Chr7:128857355	FLNC-AS1, FLNC		Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 24241818.	NC_000007.13:g.(?_128475360)_(128478877_?)del GRCh37: Chr7:128475360-128478877	FLNC		Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Oct 7, 2021)	criteria provided, single submitter
Select item 24241809.	NC_000007.13:g.(?_128470692)_(128498577_?)del GRCh37: Chr7:128470692-128498577	FLNC		Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 242417910.	NC_000007.13:g.(?_128480199)_(128481774_?)del GRCh37: Chr7:128480199-128481774	FLNC		Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Likely pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 242417811.	NC_000007.13:g.(?_128480619)_(128486474_?)del GRCh37: Chr7:128480619-128486474	FLNC		Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 242417712.	NC_000007.13:g.(?_128470692)_(128482448_?)dup GRCh37: Chr7:128470692-128482448	FLNC		Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 242175213.	NM_001458.5(FLNC):c.1047+16C>T GRCh37: Chr7:128478134 GRCh38: Chr7:128838080	FLNC		Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 242171114.	NM_001458.5(FLNC):c.480G>T (p.Thr160=) GRCh37: Chr7:128475507 GRCh38: Chr7:128835453	FLNC		Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 242073515.	NM_001458.5(FLNC):c.7055A>T (p.Glu2352Val) GRCh37: Chr7:128494886 GRCh38: Chr7:128854832	FLNC, FLNC-AS1	E2319V, E2352V	Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 242069816.	NM_001458.5(FLNC):c.700-4G>A GRCh37: Chr7:128477448 GRCh38: Chr7:128837394	FLNC		Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 241966517.	NM_001458.5(FLNC):c.4288+19C>T GRCh37: Chr7:128486978 GRCh38: Chr7:128846924	FLNC		Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 241913218.	NM_001458.5(FLNC):c.4791G>T (p.Thr1597=) GRCh37: Chr7:128488900 GRCh38: Chr7:128848846	FLNC		Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 241741419.	NM_001458.5(FLNC):c.4740C>A (p.Asp1580Glu) GRCh37: Chr7:128488849 GRCh38: Chr7:128848795	FLNC	D1580E	Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 241728320.	NM_001458.5(FLNC):c.7689T>C (p.Tyr2563=) GRCh37: Chr7:128497299 GRCh38: Chr7:128857245	FLNC, FLNC-AS1		Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 241705221.	NM_001458.5(FLNC):c.2644G>A (p.Val882Met) GRCh37: Chr7:128483464 GRCh38: Chr7:128843410	FLNC	V882M	Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 241563622.	NM_001458.5(FLNC):c.1814-12A>G GRCh37: Chr7:128481212 GRCh38: Chr7:128841158	FLNC		Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 241523523.	NM_001458.5(FLNC):c.4581-6C>T GRCh37: Chr7:128488609 GRCh38: Chr7:128848555	FLNC		Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 241502324.	NM_001458.5(FLNC):c.6828G>A (p.Val2276=) GRCh37: Chr7:128494567 GRCh38: Chr7:128854513	FLNC, FLNC-AS1		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Benign (Oct 18, 2022)	criteria provided, single submitter
Select item 220192225.	NM_001458.5(FLNC):c.7387A>G (p.Lys2463Glu) GRCh37: Chr7:128496801 GRCh38: Chr7:128856747	FLNC, FLNC-AS1	K2463E, K2430E	Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype	Uncertain significance (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220191726.	NM_001458.5(FLNC):c.7990+11G>A GRCh37: Chr7:128498282 GRCh38: Chr7:128858228	FLNC-AS1, FLNC		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 220113627.	NM_001458.5(FLNC):c.4752G>A (p.Lys1584=) GRCh37: Chr7:128488861 GRCh38: Chr7:128848807	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype	Likely benign (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220053928.	NM_001458.5(FLNC):c.1584T>G (p.Ala528=) GRCh37: Chr7:128480636 GRCh38: Chr7:128840582	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 220006329.	NM_001458.5(FLNC):c.2227T>C (p.Ser743Pro) GRCh37: Chr7:128482390 GRCh38: Chr7:128842336	FLNC	S743P	Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype	Uncertain significance (Nov 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219980330.	NM_001458.5(FLNC):c.1210+16G>A GRCh37: Chr7:128478499 GRCh38: Chr7:128838445	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 219964431.	NM_001458.5(FLNC):c.7217A>T (p.Asp2406Val) GRCh37: Chr7:128495334 GRCh38: Chr7:128855280	FLNC, FLNC-AS1	D2406V, D2373V	Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 219876832.	NM_001458.5(FLNC):c.2935G>A (p.Ala979Thr) GRCh37: Chr7:128484063 GRCh38: Chr7:128844009	FLNC	A979T	Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 219799533.	NM_001458.5(FLNC):c.2930-9_2930-7dup GRCh37: Chr7:128484046-128484047 GRCh38: Chr7:128843992-128843993	FLNC		Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 219685734.	NM_001458.5(FLNC):c.4934T>C (p.Ile1645Thr) GRCh37: Chr7:128489241 GRCh38: Chr7:128849187	FLNC	I1645T	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 219647935.	NM_001458.5(FLNC):c.6963C>T (p.Gly2321=) GRCh37: Chr7:128494702 GRCh38: Chr7:128854648	FLNC, FLNC-AS1		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 219642236.	NM_001458.5(FLNC):c.3552C>T (p.Gly1184=) GRCh37: Chr7:128485071 GRCh38: Chr7:128845017	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219539037.	NM_001458.5(FLNC):c.1255G>A (p.Gly419Ser) GRCh37: Chr7:128478701 GRCh38: Chr7:128838647	FLNC	G419S	Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 219487138.	NM_001458.5(FLNC):c.4128-11T>G GRCh37: Chr7:128486788 GRCh38: Chr7:128846734	FLNC		Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 219465739.	NM_001458.5(FLNC):c.5358C>T (p.Asn1786=) GRCh37: Chr7:128490497 GRCh38: Chr7:128850443	FLNC, FLNC-AS1		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 219301040.	NM_001458.5(FLNC):c.2265+10C>A GRCh37: Chr7:128482438 GRCh38: Chr7:128842384	FLNC		Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 219270741.	NM_001458.5(FLNC):c.5068C>G (p.Leu1690Val) GRCh37: Chr7:128489501 GRCh38: Chr7:128849447	FLNC	L1690V	Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 219175842.	NM_001458.5(FLNC):c.210C>T (p.Leu70=) GRCh37: Chr7:128470901 GRCh38: Chr7:128830847	FLNC		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 219139543.	NM_001458.5(FLNC):c.6489C>T (p.Asn2163=) GRCh37: Chr7:128494032 GRCh38: Chr7:128853978	FLNC, FLNC-AS1		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 218998744.	NM_001458.5(FLNC):c.1563G>A (p.Glu521=) GRCh37: Chr7:128480615 GRCh38: Chr7:128840561	FLNC		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 218947445.	NM_001458.5(FLNC):c.5564A>T (p.Asp1855Val) GRCh37: Chr7:128491310 GRCh38: Chr7:128851256	FLNC-AS1, FLNC	D1822V, D1855V	Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 218858646.	NM_001458.5(FLNC):c.5842+14A>T GRCh37: Chr7:128491696 GRCh38: Chr7:128851642	FLNC-AS1, FLNC		Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 218846547.	NM_001458.5(FLNC):c.5518T>A (p.Tyr1840Asn) GRCh37: Chr7:128490976 GRCh38: Chr7:128850922	FLNC, FLNC-AS1	Y1840N, Y1807N	Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 218833248.	NM_001458.5(FLNC):c.7539T>C (p.Pro2513=) GRCh37: Chr7:128496953 GRCh38: Chr7:128856899	FLNC, FLNC-AS1		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 218833149.	NM_001458.5(FLNC):c.6729T>C (p.Gly2243=) GRCh37: Chr7:128494468 GRCh38: Chr7:128854414	FLNC, FLNC-AS1		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 218820950.	NM_001458.5(FLNC):c.7929T>C (p.Pro2643=) GRCh37: Chr7:128498210 GRCh38: Chr7:128858156	FLNC, FLNC-AS1		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 218787251.	NM_001458.5(FLNC):c.5452A>C (p.Lys1818Gln) GRCh37: Chr7:128490910 GRCh38: Chr7:128850856	FLNC-AS1, FLNC	K1785Q, K1818Q	Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 218645252.	NM_001458.5(FLNC):c.6606G>A (p.Lys2202=) GRCh37: Chr7:128494149 GRCh38: Chr7:128854095	FLNC, FLNC-AS1		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 218560053.	NM_001458.5(FLNC):c.4578C>A (p.Arg1526=) GRCh37: Chr7:128488120 GRCh38: Chr7:128848066	FLNC		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 218534254.	NM_001458.5(FLNC):c.4525A>G (p.Thr1509Ala) GRCh37: Chr7:128488067 GRCh38: Chr7:128848013	FLNC	T1509A	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 218405455.	NM_001458.5(FLNC):c.3246A>G (p.Pro1082=) GRCh37: Chr7:128484765 GRCh38: Chr7:128844711	FLNC		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 218370156.	NM_001458.5(FLNC):c.2469G>A (p.Lys823=) GRCh37: Chr7:128482927 GRCh38: Chr7:128842873	FLNC		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 218318457.	NM_001458.5(FLNC):c.2390-18G>C GRCh37: Chr7:128482830 GRCh38: Chr7:128842776	FLNC		Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 218251458.	NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala) GRCh37: Chr7:128488092 GRCh38: Chr7:128848038	FLNC	V1517A	Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 218122159.	NM_001458.5(FLNC):c.7252-12T>C GRCh37: Chr7:128496560 GRCh38: Chr7:128856506	FLNC-AS1, FLNC		Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 218086160.	NM_001458.5(FLNC):c.3967G>T (p.Val1323Leu) GRCh37: Chr7:128486357 GRCh38: Chr7:128846303	FLNC	V1323L	Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 218054261.	NM_001458.5(FLNC):c.886G>A (p.Ala296Thr) GRCh37: Chr7:128477726 GRCh38: Chr7:128837672	FLNC	A296T	Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 218049162.	NM_001458.5(FLNC):c.5013G>T (p.Lys1671Asn) GRCh37: Chr7:128489446 GRCh38: Chr7:128849392	FLNC	K1671N	Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 218049063.	NM_001458.5(FLNC):c.602-7T>A GRCh37: Chr7:128477207 GRCh38: Chr7:128837153	FLNC		Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 217992964.	NM_001458.5(FLNC):c.2122-19G>A GRCh37: Chr7:128482266 GRCh38: Chr7:128842212	FLNC		Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 217986165.	NM_001458.5(FLNC):c.1047+19C>G GRCh37: Chr7:128478137 GRCh38: Chr7:128838083	FLNC		Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 217900166.	NM_001458.5(FLNC):c.3730G>T (p.Val1244Leu) GRCh37: Chr7:128485249 GRCh38: Chr7:128845195	FLNC	V1244L	Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 217900067.	NM_001458.5(FLNC):c.2125G>T (p.Ala709Ser) GRCh37: Chr7:128482288 GRCh38: Chr7:128842234	FLNC	A709S	Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 217891768.	NM_001458.5(FLNC):c.352+13G>A GRCh37: Chr7:128471056 GRCh38: Chr7:128831002	FLNC		Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 217829469.	NM_001458.5(FLNC):c.4897A>G (p.Thr1633Ala) GRCh37: Chr7:128489006 GRCh38: Chr7:128848952	FLNC	T1633A	Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 217791170.	NM_001458.5(FLNC):c.5666A>G (p.Glu1889Gly) GRCh37: Chr7:128491412 GRCh38: Chr7:128851358	FLNC, FLNC-AS1	E1856G, E1889G	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 217755471.	NM_001458.5(FLNC):c.5849A>G (p.Asp1950Gly) GRCh37: Chr7:128492651 GRCh38: Chr7:128852597	FLNC-AS1, FLNC	D1917G, D1950G	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 217733272.	NM_001458.5(FLNC):c.4260C>T (p.Asn1420=) GRCh37: Chr7:128486931 GRCh38: Chr7:128846877	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 217670773.	NM_001458.5(FLNC):c.1935C>T (p.Asp645=) GRCh37: Chr7:128481345 GRCh38: Chr7:128841291	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 217667374.	NM_001458.5(FLNC):c.5823C>T (p.Pro1941=) GRCh37: Chr7:128491663 GRCh38: Chr7:128851609	FLNC-AS1, FLNC		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 217651775.	NM_001458.5(FLNC):c.2938G>C (p.Val980Leu) GRCh37: Chr7:128484066 GRCh38: Chr7:128844012	FLNC	V980L	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 217609476.	NM_001458.5(FLNC):c.1412-4C>G GRCh37: Chr7:128480073 GRCh38: Chr7:128840019	FLNC		Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 217604277.	NM_001458.5(FLNC):c.7561+14G>A GRCh37: Chr7:128496989 GRCh38: Chr7:128856935	FLNC, FLNC-AS1		Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 217565278.	NM_001458.5(FLNC):c.2460C>T (p.Asp820=) GRCh37: Chr7:128482918 GRCh38: Chr7:128842864	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 217442179.	NM_001458.5(FLNC):c.6998-20A>G GRCh37: Chr7:128494809 GRCh38: Chr7:128854755	FLNC-AS1, FLNC		Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 217435980.	NM_001458.5(FLNC):c.4055_4056delinsAT (p.Arg1352His) GRCh37: Chr7:128486445-128486446 GRCh38: Chr7:128846391-128846392	FLNC	R1352H	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 217251281.	NM_001458.5(FLNC):c.2513C>G (p.Ala838Gly) GRCh37: Chr7:128482971 GRCh38: Chr7:128842917	FLNC	A838G	Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 217220382.	NM_001458.5(FLNC):c.4288+20G>A GRCh37: Chr7:128486979 GRCh38: Chr7:128846925	FLNC		Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 217187083.	NM_001458.5(FLNC):c.3815A>G (p.Glu1272Gly) GRCh37: Chr7:128486068 GRCh38: Chr7:128846014	FLNC	E1272G	Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 217165184.	NM_001458.5(FLNC):c.4162G>A (p.Glu1388Lys) GRCh37: Chr7:128486833 GRCh38: Chr7:128846779	FLNC	E1388K	Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 217162785.	NM_001458.5(FLNC):c.6727+11_6727+26dup GRCh37: Chr7:128494277-128494278 GRCh38: Chr7:128854223-128854224	FLNC, FLNC-AS1		Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 217058286.	NM_001458.5(FLNC):c.2630_2631insTCT (p.Leu877_Asn878insLeu) GRCh37: Chr7:128483360-128483361 GRCh38: Chr7:128843306-128843307	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 217013787.	NM_001458.5(FLNC):c.5911G>A (p.Glu1971Lys) GRCh37: Chr7:128492713 GRCh38: Chr7:128852659	FLNC-AS1, FLNC	E1938K, E1971K	Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 216978188.	NM_001458.5(FLNC):c.1365G>A (p.Ala455=) GRCh37: Chr7:128478811 GRCh38: Chr7:128838757	FLNC		Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Benign (Oct 3, 2022)	criteria provided, single submitter
Select item 216920189.	NM_001458.5(FLNC):c.2833A>G (p.Thr945Ala) GRCh37: Chr7:128483871 GRCh38: Chr7:128843817	FLNC	T945A	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 216865990.	NM_001458.5(FLNC):c.1411+9C>G GRCh37: Chr7:128478866 GRCh38: Chr7:128838812	FLNC		Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 216830991.	NM_001458.5(FLNC):c.5668+16G>T GRCh37: Chr7:128491430 GRCh38: Chr7:128851376	FLNC, FLNC-AS1		Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 216818092.	NM_001458.5(FLNC):c.6418C>T (p.Arg2140Trp) GRCh37: Chr7:128493825 GRCh38: Chr7:128853771	FLNC-AS1, FLNC	R2107W, R2140W	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 216775293.	NM_001458.5(FLNC):c.3879C>T (p.Leu1293=) GRCh37: Chr7:128486132 GRCh38: Chr7:128846078	FLNC		Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 216751094.	NM_001458.5(FLNC):c.3965-20C>A GRCh37: Chr7:128486335 GRCh38: Chr7:128846281	FLNC		Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 216720595.	NM_001458.5(FLNC):c.6362-9C>G GRCh37: Chr7:128493760 GRCh38: Chr7:128853706	FLNC-AS1, FLNC		Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 216707796.	NM_001458.5(FLNC):c.6987C>A (p.Ala2329=) GRCh37: Chr7:128494726 GRCh38: Chr7:128854672	FLNC, FLNC-AS1		Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 216707597.	NM_001458.5(FLNC):c.5160C>A (p.Phe1720Leu) GRCh37: Chr7:128489593 GRCh38: Chr7:128849539	FLNC	F1720L	Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 216630198.	NM_001458.5(FLNC):c.6004+3G>A GRCh37: Chr7:128492809 GRCh38: Chr7:128852755	FLNC, FLNC-AS1		Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 216544599.	NM_001458.5(FLNC):c.7135+10C>T GRCh37: Chr7:128494976 GRCh38: Chr7:128854922	FLNC, FLNC-AS1		Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 2165409100.	NM_001458.5(FLNC):c.1813+18AGG[2] GRCh37: Chr7:128481042-128481044 GRCh38: Chr7:128840988-128840990	FLNC		Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Likely benign (Apr 21, 2022)	criteria provided, single submitter

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