2318[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 1220910	NC_000007.14:g.128830263del	FLNC	Deletion	not provided	GBenign
Select item 679871	NM_001458.4(FLNC):c.-316C>T	FLNC	Single nucleotide variant	not provided	GBenign
Select item 680197	NM_001458.5(FLNC):c.-230C>A	FLNC	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 680198	NM_001458.5(FLNC):c.-210G>A	FLNC	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1207031	NM_001458.5(FLNC):c.-199A>G	FLNC	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 389113	NM_001458.5(FLNC):c.-36G>T	FLNC	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1299957	NM_001458.5(FLNC):c.-26_-9dup	FLNC	Duplication (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1204238	NM_001458.5(FLNC):c.-29C>T	FLNC	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 584412	NC_000007.14:g.(?_128830618)_(128858543_?)del	FLNC, FLNC-AS1 +1 more	Deletion	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 258125	NM_001458.5(FLNC):c.-12G>T	FLNC	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign
Select item 1798665	NM_001458.5(FLNC):c.-2G>A	FLNC	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 2121305	NM_001458.5(FLNC):c.4A>G (p.Met2Val)	FLNC (M2V)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2927408	NM_001458.5(FLNC):c.5T>C (p.Met2Thr)	FLNC (M2T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2937306	NM_001458.5(FLNC):c.11A>G (p.Asn4Ser)	FLNC (N4S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1490267	NM_001458.5(FLNC):c.13A>G (p.Ser5Gly)	FLNC (S5G)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 539382	NM_001458.5(FLNC):c.15C>A (p.Ser5Arg)	FLNC (S5R)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GConflicting classifications of pathogenicity
Select item 838894	NM_001458.5(FLNC):c.16G>A (p.Gly6Ser)	FLNC (G6S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 569079	NM_001458.5(FLNC):c.16G>C (p.Gly6Arg)	FLNC (G6R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +3 more	GUncertain significance
Select item 3221704	NM_001458.5(FLNC):c.17G>A (p.Gly6Asp)	FLNC (G6D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 848024	NM_001458.5(FLNC):c.19T>G (p.Tyr7Asp)	FLNC (Y7D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1556630	NM_001458.5(FLNC):c.21C>T (p.Tyr7=)	FLNC	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26 +3 more	GLikely benign
Select item 774783	NM_001458.5(FLNC):c.22T>C (p.Ser8Pro)	FLNC (S8P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GBenign/Likely benign
Select item 858530	NM_001458.5(FLNC):c.31G>T (p.Gly11Cys)	FLNC (G11C)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 539388	NM_001458.5(FLNC):c.31G>A (p.Gly11Ser)	FLNC (G11S)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 2934413	NM_001458.5(FLNC):c.33C>T (p.Gly11=)	FLNC	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26 +3 more	GLikely benign
Select item 2115060	NM_001458.5(FLNC):c.33C>A (p.Gly11=)	FLNC	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 1053580	NM_001458.5(FLNC):c.37G>C (p.Gly13Arg)	FLNC (G13R)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 582980	NM_001458.5(FLNC):c.37G>A (p.Gly13Ser)	FLNC (G13S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1739542	NM_001458.5(FLNC):c.42G>A (p.Leu14=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1001194	NM_001458.5(FLNC):c.43G>A (p.Gly15Ser)	FLNC (G15S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 961261	NM_001458.5(FLNC):c.44G>T (p.Gly15Val)	FLNC (G15V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 2441637	NM_001458.5(FLNC):c.46dup (p.Asp16fs)	FLNC (D16fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 26 +2 more	GLikely pathogenic
Select item 1434366	NM_001458.5(FLNC):c.45C>T (p.Gly15=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 843279	NM_001458.5(FLNC):c.46G>T (p.Asp16Tyr)	FLNC (D16Y)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 2158004	NM_001458.5(FLNC):c.49G>A (p.Glu17Lys)	FLNC (E17K)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 744579	NM_001458.5(FLNC):c.51G>A (p.Glu17=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1141360	NM_001458.5(FLNC):c.57C>T (p.Asp19=)	FLNC	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 472120	NM_001458.5(FLNC):c.59A>C (p.Glu20Ala)	FLNC (E20A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2031180	NM_001458.5(FLNC):c.60G>A (p.Glu20=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 1057561	NM_001458.5(FLNC):c.61A>G (p.Met21Val)	FLNC (M21V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GConflicting classifications of pathogenicity
Select item 659374	NM_001458.5(FLNC):c.64C>T (p.Pro22Ser)	FLNC (P22S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1959822	NM_001458.5(FLNC):c.65C>T (p.Pro22Leu)	FLNC (P22L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +3 more	GUncertain significance
Select item 1956528	NM_001458.5(FLNC):c.65C>G (p.Pro22Arg)	FLNC (P22R)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 748281	NM_001458.5(FLNC):c.66G>A (p.Pro22=)	FLNC	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 2630851	NM_001458.5(FLNC):c.70A>C (p.Thr24Pro)	FLNC (T24P)	Single nucleotide variant (missense variant)	FLNC-related disorder	GUncertain significance
Select item 3221754	NM_001458.5(FLNC):c.71C>G (p.Thr24Arg)	FLNC (T24R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 960857	NM_001458.5(FLNC):c.71C>A (p.Thr24Lys)	FLNC (T24K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +3 more	GUncertain significance
Select item 1920985	NM_001458.5(FLNC):c.72G>A (p.Thr24=)	FLNC	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 569267	NM_001458.5(FLNC):c.76A>G (p.Lys26Glu)	FLNC (K26E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1366828	NM_001458.5(FLNC):c.77A>C (p.Lys26Thr)	FLNC (K26T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 857181	NM_001458.5(FLNC):c.81C>A (p.Asp27Glu)	FLNC (D27E)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 1581189	NM_001458.5(FLNC):c.84G>A (p.Leu28=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
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 1510248	NM_001458.5(FLNC):c.86C>T (p.Ala29Val)	FLNC (A29V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1506416	NM_001458.5(FLNC):c.88G>A (p.Glu30Lys)	FLNC (E30K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +3 more	GUncertain significance
Select item 2565520	NM_001458.5(FLNC):c.91G>A (p.Asp31Asn)	FLNC (D31N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2123740	NM_001458.5(FLNC):c.92A>T (p.Asp31Val)	FLNC (D31V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1063042	NM_001458.5(FLNC):c.95C>T (p.Ala32Val)	FLNC (A32V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 472191	NM_001458.5(FLNC):c.96G>A (p.Ala32=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +4 more	GLikely benign
Select item 3221761	NM_001458.5(FLNC):c.99G>A (p.Pro33=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1722070	NM_001458.5(FLNC):c.100T>G (p.Trp34Gly)	FLNC (W34G)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 1361957	NM_001458.5(FLNC):c.102G>A (p.Trp34Ter)	FLNC (W34*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 26 +3 more	GPathogenic
Select item 1094411	NM_001458.5(FLNC):c.108G>A (p.Lys36=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 1994262	NM_001458.5(FLNC):c.109A>G (p.Ile37Val)	FLNC (I37V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +3 more	GUncertain significance
Select item 1717138	NM_001458.5(FLNC):c.110T>G (p.Ile37Ser)	FLNC (I37S)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 802365	NM_001458.5(FLNC):c.113A>T (p.Gln38Leu)	FLNC (Q38L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2412934	NM_001458.5(FLNC):c.122C>T (p.Thr41Ile)	FLNC (T41I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2943584	NM_001458.5(FLNC):c.123del (p.Phe42fs)	FLNC (F42fs)	Deletion (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 1757778	NM_001458.5(FLNC):c.123A>T (p.Thr41=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 642140	NM_001458.5(FLNC):c.125T>G (p.Phe42Cys)	FLNC (F42C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 539424	NM_001458.5(FLNC):c.125T>C (p.Phe42Ser)	FLNC (F42S)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 1131838	NM_001458.5(FLNC):c.126C>T (p.Phe42=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +4 more	GLikely benign
Select item 863939	NM_001458.5(FLNC):c.127A>C (p.Thr43Pro)	FLNC (T43P)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 2691181	NM_001458.5(FLNC):c.129G>A (p.Thr43=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 2565524	NM_001458.5(FLNC):c.129G>T (p.Thr43=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1052550	NM_001458.5(FLNC):c.130C>T (p.Arg44Cys)	FLNC (R44C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +3 more	GUncertain significance
Select item 1997297	NM_001458.5(FLNC):c.131G>C (p.Arg44Pro)	FLNC (R44P)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 840850	NM_001458.5(FLNC):c.131G>T (p.Arg44Leu)	FLNC (R44L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2016716	NM_001458.5(FLNC):c.133T>A (p.Trp45Arg)	FLNC (W45R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2940021	NM_001458.5(FLNC):c.139A>G (p.Asn47Asp)	FLNC (N47D)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 644893	NM_001458.5(FLNC):c.140A>G (p.Asn47Ser)	FLNC (N47S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 838514	NM_001458.5(FLNC):c.142_162dup (p.Glu48_Gly54dup)	FLNC	Duplication (inframe_insertion)	not provided +4 more	GUncertain significance
Select item 471973	NM_001458.5(FLNC):c.141T>C (p.Asn47=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +4 more	GLikely benign
Select item 1074694	NM_001458.5(FLNC):c.146_147insT (p.Leu50fs)	FLNC (L50fs)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy 26 +3 more	GPathogenic
Select item 567163	NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs)	FLNC (K51fs)	Indel (frameshift variant)	Hypertrophic cardiomyopathy 26 +3 more	GPathogenic
Select item 129081	NM_001458.5(FLNC):c.147C>T (p.His49=)	FLNC	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +6 more	GBenign
Select item 2130793	NM_001458.5(FLNC):c.148C>G (p.Leu50Val)	FLNC (L50V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1060147	NM_001458.5(FLNC):c.152A>G (p.Lys51Arg)	FLNC (K51R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +4 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 1073410	NM_001458.5(FLNC):c.156dup (p.Val53fs)	FLNC (V53fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 26 +3 more	GPathogenic

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