FLNC[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24416371.	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 13619572.	NM_001458.5(FLNC):c.102G>A (p.Trp34Ter) GRCh37: Chr7:128470793 GRCh38: Chr7:128830739	FLNC	W34*	Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Pathogenic (Oct 26, 2022)	criteria provided, single submitter
Select item 10746943.	NM_001458.5(FLNC):c.146_147insT (p.Leu50fs) GRCh37: Chr7:128470837-128470838 GRCh38: Chr7:128830783-128830784	FLNC	L50fs	Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant	Pathogenic (Nov 9, 2018)	criteria provided, single submitter
Select item 5671634.	NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs) GRCh37: Chr7:128470838 GRCh38: Chr7:128830784	FLNC	K51fs	Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Pathogenic (Jul 15, 2019)	criteria provided, single submitter
Select item 10734105.	NM_001458.5(FLNC):c.156dup (p.Val53fs) GRCh37: Chr7:128470846-128470847 GRCh38: Chr7:128830792-128830793	FLNC	V53fs	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5	Pathogenic (Sep 24, 2020)	criteria provided, single submitter
Select item 10726296.	NM_001458.5(FLNC):c.181C>T (p.Gln61Ter) GRCh37: Chr7:128470872 GRCh38: Chr7:128830818	FLNC	Q61*	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Feb 27, 2020)	criteria provided, single submitter
Select item 10719317.	NM_001458.5(FLNC):c.261del (p.Pro88fs) GRCh37: Chr7:128470952 GRCh38: Chr7:128830898	FLNC	P88fs	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Sep 5, 2021)	criteria provided, single submitter
Select item 18102388.	NM_001458.5(FLNC):c.263del (p.Pro88fs) GRCh37: Chr7:128470953 GRCh38: Chr7:128830899	FLNC	P88fs	not provided	Likely pathogenic (Dec 17, 2022)	criteria provided, single submitter
Select item 17308859.	NM_001458.5(FLNC):c.338del (p.Lys113fs) GRCh37: Chr7:128471028 GRCh38: Chr7:128830974	FLNC	K113fs	Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype	Pathogenic (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25312510.	NM_001458.5(FLNC):c.368T>C (p.Val123Ala) GRCh37: Chr7:128475395 GRCh38: Chr7:128835341	FLNC	V123A	Hypertrophic cardiomyopathy 26	Pathogenic (Jul 21, 2016)	no assertion criteria provided
Select item 53943911.	NM_001458.5(FLNC):c.444G>A (p.Trp148Ter) GRCh37: Chr7:128475471 GRCh38: Chr7:128835417	FLNC	W148*	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5	Pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 63673012.	NM_001458.5(FLNC):c.477_478del (p.Gln159fs) GRCh37: Chr7:128475503-128475504 GRCh38: Chr7:128835449-128835450	FLNC	Q159fs	not provided	Likely pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 145280413.	NM_001458.5(FLNC):c.486dup (p.Gln163fs) GRCh37: Chr7:128475512-128475513 GRCh38: Chr7:128835458-128835459	FLNC	Q163fs	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Jul 21, 2021)	criteria provided, single submitter
Select item 174379114.	NM_001458.5(FLNC):c.488_491dup (p.Leu165fs) GRCh37: Chr7:128475514-128475515 GRCh38: Chr7:128835460-128835461	FLNC	L165fs	Cardiovascular phenotype	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 137329015.	NM_001458.5(FLNC):c.531del (p.Ile178fs) GRCh37: Chr7:128475556 GRCh38: Chr7:128835502	FLNC	I178fs	Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Pathogenic (Sep 8, 2021)	criteria provided, single submitter
Select item 133311016.	NM_001458.5(FLNC):c.539A>G (p.Asn180Ser) GRCh37: Chr7:128475566 GRCh38: Chr7:128835512	FLNC	N180S	Cardiomyopathy	Likely pathogenic (May 6, 2020)	criteria provided, single submitter
Select item 64359517.	NM_001458.5(FLNC):c.554G>A (p.Trp185Ter) GRCh37: Chr7:128475581 GRCh38: Chr7:128835527	FLNC	W185*	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, not provided	Pathogenic (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145357118.	NM_001458.5(FLNC):c.555G>A (p.Trp185Ter) GRCh37: Chr7:128475582 GRCh38: Chr7:128835528	FLNC	W185*	Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Nov 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107437719.	NM_001458.5(FLNC):c.563del (p.Gly188fs) GRCh37: Chr7:128475589 GRCh38: Chr7:128835535	FLNC	G188fs	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5	Pathogenic (Feb 21, 2021)	criteria provided, single submitter
Select item 202964620.	NM_001458.5(FLNC):c.581_600del (p.Leu194fs) GRCh37: Chr7:128475605-128475624 GRCh38: Chr7:128835551-128835570	FLNC	L194fs	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 87119521.	NM_001458.5(FLNC):c.584T>G (p.Val195Gly) GRCh37: Chr7:128475611 GRCh38: Chr7:128835557	FLNC	V195G	not provided	Likely pathogenic (Oct 1, 2019)	criteria provided, single submitter
Select item 145872022.	NM_001458.5(FLNC):c.592_593del (p.Cys198fs) GRCh37: Chr7:128475619-128475620 GRCh38: Chr7:128835565-128835566	FLNC	C198fs	Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Pathogenic (Jun 16, 2021)	criteria provided, single submitter
Select item 175106423.	NM_001458.5(FLNC):c.600dup (p.Gly201fs) GRCh37: Chr7:128475622-128475623 GRCh38: Chr7:128835568-128835569	FLNC	G201fs	Cardiovascular phenotype	Pathogenic (Sep 11, 2021)	criteria provided, single submitter
Select item 145676124.	NM_001458.5(FLNC):c.609C>A (p.Cys203Ter) GRCh37: Chr7:128477221 GRCh38: Chr7:128837167	FLNC	C203*	Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Pathogenic (Dec 18, 2020)	criteria provided, single submitter
Select item 208800025.	NM_001458.5(FLNC):c.627G>A (p.Trp209Ter) GRCh37: Chr7:128477239 GRCh38: Chr7:128837185	FLNC	W209*	Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 145645626.	NM_001458.5(FLNC):c.658del (p.Glu220fs) GRCh37: Chr7:128477268 GRCh38: Chr7:128837214	FLNC	E220fs	Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 144675027.	NM_001458.5(FLNC):c.664A>G (p.Met222Val) GRCh37: Chr7:128477276 GRCh38: Chr7:128837222	FLNC	M222V	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 170574028.	NM_001458.5(FLNC):c.665T>C (p.Met222Thr) GRCh37: Chr7:128477277 GRCh38: Chr7:128837223	FLNC		Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Sep 14, 2022)	no assertion criteria provided
Select item 136813729.	NM_001458.5(FLNC):c.671del (p.Gln224fs) GRCh37: Chr7:128477283 GRCh38: Chr7:128837229	FLNC	Q224fs	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Oct 27, 2022)	criteria provided, single submitter
Select item 47813030.	NM_001458.5(FLNC):c.697C>T (p.Gln233Ter) GRCh37: Chr7:128477309 GRCh38: Chr7:128837255	FLNC	Q233*	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 56736831.	NM_001458.5(FLNC):c.699+1G>A GRCh37: Chr7:128477312 GRCh38: Chr7:128837258	FLNC		Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 80236632.	NM_001458.5(FLNC):c.710C>T (p.Pro237Leu) GRCh37: Chr7:128477462 GRCh38: Chr7:128837408	FLNC	P237L	Myofibrillar myopathy 5	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 2959133.	NM_001458.5(FLNC):c.752T>C (p.Met251Thr) GRCh37: Chr7:128477504 GRCh38: Chr7:128837450	FLNC	M251T	not provided	Likely pathogenic (Oct 22, 2019)	criteria provided, single submitter
Select item 47813334.	NM_001458.5(FLNC):c.774del (p.Lys259fs) GRCh37: Chr7:128477523 GRCh38: Chr7:128837469	FLNC	K259fs	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 176063535.	NM_001458.5(FLNC):c.778del (p.Ala260fs) GRCh37: Chr7:128477529 GRCh38: Chr7:128837475	FLNC	A260fs	Cardiovascular phenotype	Pathogenic (Sep 11, 2019)	criteria provided, single submitter
Select item 143923736.	NM_001458.5(FLNC):c.794del (p.Gly265fs) GRCh37: Chr7:128477545 GRCh38: Chr7:128837491	FLNC	G265fs	Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Pathogenic (Jun 16, 2021)	criteria provided, single submitter
Select item 131990437.	NM_001458.5(FLNC):c.801del (p.Val268fs) GRCh37: Chr7:128477553 GRCh38: Chr7:128837499	FLNC	V268fs	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Apr 21, 2021)	criteria provided, single submitter
Select item 53941138.	NM_001458.5(FLNC):c.805C>T (p.Arg269Ter) GRCh37: Chr7:128477557 GRCh38: Chr7:128837503	FLNC	R269*	Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, not provided	Pathogenic (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147902139.	NM_001458.5(FLNC):c.850+1G>T GRCh37: Chr7:128477603 GRCh38: Chr7:128837549	FLNC		Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Likely pathogenic (Apr 9, 2022)	criteria provided, single submitter
Select item 147563340.	NM_001458.5(FLNC):c.850+1G>A GRCh37: Chr7:128477603 GRCh38: Chr7:128837549	FLNC		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement	Likely pathogenic (Oct 23, 2022)	criteria provided, single submitter
Select item 93164641.	NM_001458.5(FLNC):c.893_908del (p.Phe298fs) GRCh37: Chr7:128477732-128477747 GRCh38: Chr7:128837678-128837693	FLNC	F298fs	Hypertrophic cardiomyopathy 26	Likely pathogenic (Nov 8, 2019)	criteria provided, single submitter
Select item 85327942.	NM_001458.5(FLNC):c.964G>T (p.Glu322Ter) GRCh37: Chr7:128477804 GRCh38: Chr7:128837750	FLNC	E322*	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Nov 27, 2019)	criteria provided, single submitter
Select item 85953443.	NM_001458.5(FLNC):c.1027A>T (p.Lys343Ter) GRCh37: Chr7:128478098 GRCh38: Chr7:128838044	FLNC	K343*	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Aug 22, 2020)	criteria provided, single submitter
Select item 106645744.	NM_001458.5(FLNC):c.1047+1G>A GRCh37: Chr7:128478119 GRCh38: Chr7:128838065	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 95809045.	NM_001458.5(FLNC):c.1047+1G>T GRCh37: Chr7:128478119 GRCh38: Chr7:128838065	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Likely pathogenic (Oct 17, 2019)	criteria provided, single submitter
Select item 145529446.	NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter) GRCh37: Chr7:128478342 GRCh38: Chr7:128838288	FLNC	Q357*	Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype	Pathogenic (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142287347.	NM_001458.5(FLNC):c.1111dup (p.Ala371fs) GRCh37: Chr7:128478382-128478383 GRCh38: Chr7:128838328-128838329	FLNC	A371fs	Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Pathogenic (Oct 5, 2021)	criteria provided, single submitter
Select item 205085848.	NM_001458.5(FLNC):c.1136C>G (p.Ser379Ter) GRCh37: Chr7:128478409 GRCh38: Chr7:128838355	FLNC	S379*	Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 209829049.	NM_001458.5(FLNC):c.1166dup (p.Asn390fs) GRCh37: Chr7:128478436-128478437 GRCh38: Chr7:128838382-128838383	FLNC	N390fs	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant	Pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 106863150.	NM_001458.5(FLNC):c.1205del (p.Thr402fs) GRCh37: Chr7:128478478 GRCh38: Chr7:128838424	FLNC	T402fs	Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Jun 9, 2018)	criteria provided, single submitter
Select item 145242751.	NM_001458.5(FLNC):c.1260del (p.Arg421fs) GRCh37: Chr7:128478705 GRCh38: Chr7:128838651	FLNC	R421fs	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Oct 12, 2021)	criteria provided, single submitter
Select item 176620852.	NM_001458.5(FLNC):c.1274del (p.Glu425fs) GRCh37: Chr7:128478720 GRCh38: Chr7:128838666	FLNC	E425fs	Cardiovascular phenotype	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 203632053.	NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs) GRCh37: Chr7:128478757-128478770 GRCh38: Chr7:128838703-128838716	FLNC	T439fs	Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26	Pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 147114654.	NM_001458.5(FLNC):c.1411+1G>T GRCh37: Chr7:128478858 GRCh38: Chr7:128838804	FLNC		Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely pathogenic (Sep 5, 2021)	criteria provided, single submitter
Select item 136259355.	NM_001458.5(FLNC):c.1463del (p.Gly488fs) GRCh37: Chr7:128480126 GRCh38: Chr7:128840072	FLNC	G488fs	Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Pathogenic (Mar 23, 2021)	criteria provided, single submitter
Select item 177390256.	NM_001458.5(FLNC):c.1497del (p.Phe500fs) GRCh37: Chr7:128480162 GRCh38: Chr7:128840108	FLNC	F500fs	Cardiovascular phenotype	Pathogenic (Jul 29, 2021)	criteria provided, single submitter
Select item 145006857.	NM_001458.5(FLNC):c.1503_1504dup (p.Lys502fs) GRCh37: Chr7:128480167-128480168 GRCh38: Chr7:128840113-128840114	FLNC	K502fs	Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Jul 4, 2021)	criteria provided, single submitter
Select item 47812158.	NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs) GRCh37: Chr7:128480181-128480187 GRCh38: Chr7:128840127-128840133	FLNC	G507fs	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 58078659.	NM_001458.5(FLNC):c.1548_1549+2del GRCh37: Chr7:128480213-128480216 GRCh38: Chr7:128840159-128840162	FLNC		Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Likely pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 47812260.	NM_001458.5(FLNC):c.1549+2T>G GRCh37: Chr7:128480216 GRCh38: Chr7:128840162	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Likely pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 200280061.	NM_001458.5(FLNC):c.1589_1602del (p.Asp530fs) GRCh37: Chr7:128480640-128480653 GRCh38: Chr7:128840586-128840599	FLNC	D530fs	Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 209004462.	NM_001458.5(FLNC):c.1593_1600del (p.Phe533fs) GRCh37: Chr7:128480644-128480651 GRCh38: Chr7:128840590-128840597	FLNC	F533fs	Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 53935463.	NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter) GRCh37: Chr7:128480657 GRCh38: Chr7:128840603	FLNC	C535*	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5	Pathogenic (Sep 26, 2017)	criteria provided, single submitter
Select item 145417064.	NM_001458.5(FLNC):c.1662C>A (p.Tyr554Ter) GRCh37: Chr7:128480714 GRCh38: Chr7:128840660	FLNC	Y554*	Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 107149065.	NM_001458.5(FLNC):c.1670del (p.Pro557fs) GRCh37: Chr7:128480720 GRCh38: Chr7:128840666	FLNC	P557fs	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Sep 29, 2021)	criteria provided, single submitter
Select item 47812366.	NM_001458.5(FLNC):c.1676+1G>A GRCh37: Chr7:128480729 GRCh38: Chr7:128840675	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 177780567.	NM_001458.5(FLNC):c.1677-1G>C GRCh37: Chr7:128480887 GRCh38: Chr7:128840833	FLNC		Cardiovascular phenotype	Likely pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 145104568.	NM_001458.5(FLNC):c.1730G>A (p.Trp577Ter) GRCh37: Chr7:128480941 GRCh38: Chr7:128840887	FLNC	W577*	Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 177934069.	NM_001458.5(FLNC):c.1749del (p.Gly584fs) GRCh37: Chr7:128480960 GRCh38: Chr7:128840906	FLNC	G584fs	Cardiovascular phenotype	Pathogenic (Jun 2, 2022)	criteria provided, single submitter
Select item 117491070.	NM_001458.5(FLNC):c.1813+2T>C GRCh37: Chr7:128481026 GRCh38: Chr7:128840972	FLNC		not provided	Pathogenic	no assertion criteria provided
Select item 86064371.	NM_001458.5(FLNC):c.1844dup (p.Ile616fs) GRCh37: Chr7:128481252-128481253 GRCh38: Chr7:128841198-128841199	FLNC	I616fs	Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Mar 28, 2019)	criteria provided, single submitter
Select item 202963272.	NM_001458.5(FLNC):c.1849G>T (p.Glu617Ter) GRCh37: Chr7:128481259 GRCh38: Chr7:128841205	FLNC	E617*	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 66373673.	NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs) GRCh37: Chr7:128481269-128481270 GRCh38: Chr7:128841215-128841216	FLNC	R629fs	Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Sep 6, 2019)	criteria provided, single submitter
Select item 213473874.	NM_001458.5(FLNC):c.1866_1867del (p.Asp623fs) GRCh37: Chr7:128481273-128481274 GRCh38: Chr7:128841219-128841220	FLNC	D623fs	Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 142520675.	NM_001458.5(FLNC):c.1890C>G (p.Tyr630Ter) GRCh37: Chr7:128481300 GRCh38: Chr7:128841246	FLNC	Y630*	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Oct 6, 2021)	criteria provided, single submitter
Select item 107490476.	NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter) GRCh37: Chr7:128481303 GRCh38: Chr7:128841249	FLNC	W631*	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5	Pathogenic (May 13, 2021)	criteria provided, single submitter
Select item 106936277.	NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter) GRCh37: Chr7:128481324 GRCh38: Chr7:128841270	FLNC	Y638*	Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 42121578.	NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) GRCh37: Chr7:128481358 GRCh38: Chr7:128841304	FLNC	R650*	not provided, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Cardiovascular phenotype	Pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81776679.	NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs) GRCh37: Chr7:128481375-128481376 GRCh38: Chr7:128841321-128841322	FLNC	A656fs	not provided, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5	Pathogenic/Likely pathogenic (Feb 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 106884080.	NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs) GRCh37: Chr7:128481398-128481401 GRCh38: Chr7:128841344-128841347	FLNC	D664fs	Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Aug 29, 2020)	criteria provided, single submitter
Select item 145355381.	NM_001458.5(FLNC):c.2048_2049del (p.Ile683fs) GRCh37: Chr7:128481548-128481549 GRCh38: Chr7:128841494-128841495	FLNC	I683fs	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 53944882.	NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter) GRCh37: Chr7:128481565 GRCh38: Chr7:128841511	FLNC	E689*	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5	Pathogenic (Sep 27, 2017)	criteria provided, single submitter
Select item 96441383.	NM_001458.5(FLNC):c.2084del (p.Arg695fs) GRCh37: Chr7:128481584 GRCh38: Chr7:128841530	FLNC	R695fs	not provided, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (May 14, 2020)	criteria provided, multiple submitters, no conflicts
Select item 84902484.	NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter) GRCh37: Chr7:128481619 GRCh38: Chr7:128841565	FLNC	Q707*	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 212403085.	NM_001458.5(FLNC):c.2160del (p.Asn721fs) GRCh37: Chr7:128482320 GRCh38: Chr7:128842266	FLNC	N721fs	Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 94457486.	NM_001458.5(FLNC):c.2234del (p.Gly745fs) GRCh37: Chr7:128482394 GRCh38: Chr7:128842340	FLNC	G745fs	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, not provided	Pathogenic (Feb 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64279987.	NM_001458.5(FLNC):c.2265+1G>A GRCh37: Chr7:128482429 GRCh38: Chr7:128842375	FLNC		Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5	Likely pathogenic (Feb 18, 2021)	criteria provided, single submitter
Select item 138778188.	NM_001458.5(FLNC):c.2299del (p.Arg766_Val767insTer) GRCh37: Chr7:128482660 GRCh38: Chr7:128842606	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 213189589.	NM_001458.5(FLNC):c.2385del (p.Gln796fs) GRCh37: Chr7:128482745 GRCh38: Chr7:128842691	FLNC	Q796fs	Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement	Pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 213302590.	NM_001458.5(FLNC):c.2389+1G>T GRCh37: Chr7:128482753 GRCh38: Chr7:128842699	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant	Pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 56937291.	NM_001458.5(FLNC):c.2389+2T>C GRCh37: Chr7:128482754 GRCh38: Chr7:128842700	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 47812592.	NM_001458.5(FLNC):c.2390-10_2406del GRCh37: Chr7:128482836-128482862 GRCh38: Chr7:128842782-128842808	FLNC		Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, not provided	Pathogenic (Mar 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93548293.	NM_001458.5(FLNC):c.2432del (p.Gly811fs) GRCh37: Chr7:128482888 GRCh38: Chr7:128842834	FLNC	G811fs	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26	Pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 107218094.	NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter) GRCh37: Chr7:128482957 GRCh38: Chr7:128842903	FLNC	Y833*	Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Cardiovascular phenotype	Pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44647095.	NM_001458.5(FLNC):c.2504dup (p.Pro836fs) GRCh37: Chr7:128482962 GRCh38: Chr7:128842906-128842907	FLNC	P836fs	Cardiomyopathy	Likely pathogenic	no assertion criteria provided
Select item 85802696.	NM_001458.5(FLNC):c.2507del (p.Pro836fs) GRCh37: Chr7:128482964 GRCh38: Chr7:128842910	FLNC	P836fs	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant	Pathogenic (Oct 7, 2019)	criteria provided, single submitter
Select item 95854797.	NM_001458.5(FLNC):c.2508del (p.Ala838fs) GRCh37: Chr7:128482966 GRCh38: Chr7:128842912	FLNC	A838fs	Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26	Pathogenic (Jul 24, 2019)	criteria provided, single submitter
Select item 107439298.	NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter) GRCh37: Chr7:128483006 GRCh38: Chr7:128842952	FLNC	Q850*	Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5	Pathogenic (Jul 22, 2020)	criteria provided, single submitter
Select item 210753899.	NM_001458.5(FLNC):c.2550+1G>C GRCh37: Chr7:128483009 GRCh38: Chr7:128842955	FLNC		Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26	Likely pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 641368100.	NM_001458.5(FLNC):c.2550+2T>C GRCh37: Chr7:128483010 GRCh38: Chr7:128842956	FLNC		Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Cardiovascular phenotype	Likely pathogenic (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts

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