"GeneDx"[submitter] AND "FLNC"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 855

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1204238	NM_001458.5(FLNC):c.-29C>T	FLNC	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 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 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 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 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 2412934	NM_001458.5(FLNC):c.122C>T (p.Thr41Ile)	FLNC (T41I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 129081	NM_001458.5(FLNC):c.147C>T (p.His49=)	FLNC	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +6 more	GBenign
Select item 471986	NM_001458.5(FLNC):c.174C>G (p.Thr58=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +6 more	GLikely benign
Select item 570658	NM_001458.5(FLNC):c.176A>G (p.Asp59Gly)	FLNC (D59G)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 852601	NM_001458.5(FLNC):c.185G>A (p.Arg62His)	FLNC (R62H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1311249	NM_001458.5(FLNC):c.196G>T (p.Asp66Tyr)	FLNC (D66Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1193254	NM_001458.5(FLNC):c.211A>G (p.Ile71Val)	FLNC (I71V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1201769	NM_001458.5(FLNC):c.227T>G (p.Val76Gly)	FLNC (V76G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1308894	NM_001458.5(FLNC):c.232A>G (p.Ser78Gly)	FLNC (S78G)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GUncertain significance
Select item 952262	NM_001458.5(FLNC):c.273C>A (p.Asn91Lys)	FLNC (N91K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1706728	NM_001458.5(FLNC):c.289C>T (p.Leu97=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 472024	NM_001458.5(FLNC):c.294G>A (p.Glu98=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 267289	NM_001458.5(FLNC):c.318C>G (p.Phe106Leu)	FLNC (F106L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1306796	NM_001458.5(FLNC):c.325C>A (p.Arg109Ser)	FLNC (R109S)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GUncertain significance
Select item 2948835	NM_001458.5(FLNC):c.332A>G (p.His111Arg)	FLNC (H111R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 385888	NM_001458.5(FLNC):c.352+8C>G	FLNC	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 26 +4 more	GLikely benign
Select item 387564	NM_001458.5(FLNC):c.352+10G>A	FLNC	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 26 +5 more	GBenign/Likely benign
Select item 1243520	NM_001458.5(FLNC):c.352+41G>A	FLNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244580	NM_001458.5(FLNC):c.352+117_352+118insT	FLNC	Insertion (intron variant)	not provided	GBenign
Select item 679401	NM_001458.5(FLNC):c.352+240G>C	FLNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669440	NM_001458.5(FLNC):c.353-265A>G	FLNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679403	NM_001458.5(FLNC):c.353-144G>A	FLNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282119	NM_001458.5(FLNC):c.353-32C>T	FLNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258140	NM_001458.5(FLNC):c.366C>T (p.Ile122=)	FLNC	Single nucleotide variant (synonymous variant)	not specified +7 more	GLikely benign
Select item 1312324	NM_001458.5(FLNC):c.395G>A (p.Gly132Asp)	FLNC (G132D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 837840	NM_001458.5(FLNC):c.398T>C (p.Leu133Pro)	FLNC (L133P)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 472068	NM_001458.5(FLNC):c.449A>G (p.Asp150Gly)	FLNC (D150G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 452294	NM_001458.5(FLNC):c.457G>T (p.Asp153Tyr)	FLNC (D153Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391973	NM_001458.5(FLNC):c.469C>G (p.Arg157Gly)	FLNC (R157G)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GUncertain significance
Select item 579294	NM_001458.5(FLNC):c.490C>T (p.Arg164Trp)	FLNC (R164W)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1303584	NM_001458.5(FLNC):c.506_508delinsCCA (p.Ile169_Gln170delinsThrLys)	FLNC	Indel (missense variant)	not provided	GUncertain significance
Select item 643595	NM_001458.5(FLNC):c.554G>A (p.Trp185Ter)	FLNC (W185*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 382744	NM_001458.5(FLNC):c.561C>T (p.Asp187=)	FLNC	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 29592	NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)	FLNC (A193T)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1305524	NM_001458.5(FLNC):c.583G>A (p.Val195Met)	FLNC (V195M)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GUncertain significance
Select item 565380	NM_001458.5(FLNC):c.595G>A (p.Ala199Thr)	FLNC (A199T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 195145	NM_001458.5(FLNC):c.597C>T (p.Ala199=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 383827	NM_001458.5(FLNC):c.600C>T (p.Pro200=)	FLNC	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 680204	NM_001458.5(FLNC):c.601+203A>G	FLNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227011	NM_001458.5(FLNC):c.602-34C>T	FLNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506352	NM_001458.5(FLNC):c.602-11C>T	FLNC	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 1698199	NM_001458.5(FLNC):c.617G>C (p.Trp206Ser)	FLNC (W206S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497796	NM_001458.5(FLNC):c.626G>C (p.Trp209Ser)	FLNC (W209S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386886	NM_001458.5(FLNC):c.642C>T (p.Pro214=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +5 more	GLikely benign
Select item 424399	NM_001458.5(FLNC):c.643G>A (p.Val215Met)	FLNC (V215M)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 3343599	NM_001458.5(FLNC):c.648G>C (p.Glu216Asp)	FLNC (E216D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971338	NM_001458.5(FLNC):c.673G>T (p.Ala225Ser)	FLNC (A225S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1708888	NM_001458.5(FLNC):c.678C>A (p.Asp226Glu)	FLNC (D226E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 472146	NM_001458.5(FLNC):c.678C>T (p.Asp226=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +5 more	GLikely benign
Select item 1267822	NM_001458.5(FLNC):c.699+34G>A	FLNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190400	NM_001458.5(FLNC):c.700-26T>C	FLNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680424	NM_001458.5(FLNC):c.700-5C>T	FLNC	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 1723749	NM_001458.5(FLNC):c.701T>G (p.Val234Gly)	FLNC (V234G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129096	NM_001458.5(FLNC):c.720T>C (p.Ile240=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 2444557	NM_001458.5(FLNC):c.721G>A (p.Val241Met)	FLNC (V241M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399893	NM_001458.5(FLNC):c.730A>G (p.Asn244Asp)	FLNC (N244D)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1026801	NM_001458.5(FLNC):c.783G>C (p.Lys261Asn)	FLNC (K261N)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GUncertain significance
Select item 1706790	NM_001458.5(FLNC):c.786C>G (p.Leu262=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 129099	NM_001458.5(FLNC):c.795T>C (p.Gly265=)	FLNC	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +6 more	GBenign
Select item 539411	NM_001458.5(FLNC):c.805C>T (p.Arg269Ter)	FLNC (R269*)	Single nucleotide variant (nonsense)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GPathogenic
Select item 1189648	NM_001458.5(FLNC):c.837C>T (p.Ile279=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 258154	NM_001458.5(FLNC):c.850+18G>A	FLNC	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 539521	NM_001458.5(FLNC):c.851-7C>A	FLNC	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 387492	NM_001458.5(FLNC):c.851-5C>T	FLNC	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 772832	NM_001458.5(FLNC):c.851-4G>A	FLNC	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1007896	NM_001458.5(FLNC):c.868A>G (p.Asn290Asp)	FLNC (N290D)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 579295	NM_001458.5(FLNC):c.874G>A (p.Val292Met)	FLNC (V292M)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GUncertain significance
Select item 1346753	NM_001458.5(FLNC):c.887C>T (p.Ala296Val)	FLNC (A296V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 858685	NM_001458.5(FLNC):c.905C>T (p.Thr302Met)	FLNC (T302M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GUncertain significance
Select item 472186	NM_001458.5(FLNC):c.912C>T (p.Asp304=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +5 more	GLikely benign
Select item 2580512	NM_001458.5(FLNC):c.938A>T (p.Tyr313Phe)	FLNC (Y313F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1153565	NM_001458.5(FLNC):c.942C>T (p.Ile314=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 2943267	NM_001458.5(FLNC):c.946G>C (p.Asp316His)	FLNC (D316H)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 258155	NM_001458.5(FLNC):c.969+14G>T	FLNC	Single nucleotide variant (intron variant)	not specified +4 more	GLikely benign
Select item 674466	NM_001458.5(FLNC):c.969+56G>A	FLNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 539519	NM_001458.5(FLNC):c.970-5A>G	FLNC	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 432231	NM_001458.5(FLNC):c.970-4A>G	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +7 more	GConflicting classifications of pathogenicity
Select item 1044831	NM_001458.5(FLNC):c.977T>C (p.Val326Ala)	FLNC (V326A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1218099	NM_001458.5(FLNC):c.982C>T (p.Pro328Ser)	FLNC (P328S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 650633	NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)	FLNC (R334C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 810183	NM_001458.5(FLNC):c.1001G>A (p.Arg334His)	FLNC (R334H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 515434	NM_001458.5(FLNC):c.1020T>C (p.Tyr340=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 680003	NM_001458.5(FLNC):c.1026C>T (p.Pro342=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 129078	NM_001458.5(FLNC):c.1032C>T (p.Val344=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 1306161	NM_001458.5(FLNC):c.1048-5C>G	FLNC	Single nucleotide variant (intron variant)	not provided	GUncertain significance

<< First< Prev

Page of 9