"FLNC-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299957	NM_001458.5(FLNC):c.-26_-9dup	FLNC	Duplication (5 prime UTR variant)	FLNC-related disorder	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 2632959	NM_001458.5(FLNC):c.272A>G (p.Asn91Ser)	FLNC (N91S)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GUncertain significance
Select item 2628961	NM_001458.5(FLNC):c.274T>A (p.Phe92Ile)	FLNC (F92I)	Single nucleotide variant (missense variant)	FLNC-related disorder	GUncertain significance
Select item 1658856	NM_001458.5(FLNC):c.327C>G (p.Arg109=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +5 more	GLikely benign
Select item 385888	NM_001458.5(FLNC):c.352+8C>G	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +5 more	GLikely benign
Select item 387564	NM_001458.5(FLNC):c.352+10G>A	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +6 more	GBenign/Likely benign
Select item 751031	NM_001458.5(FLNC):c.423C>T (p.Tyr141=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 195145	NM_001458.5(FLNC):c.597C>T (p.Ala199=)	FLNC	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +8 more	GBenign/Likely benign
Select item 424399	NM_001458.5(FLNC):c.643G>A (p.Val215Met)	FLNC (V215M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +6 more	GConflicting classifications of pathogenicity
Select item 680424	NM_001458.5(FLNC):c.700-5C>T	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +5 more	GLikely benign
Select item 965096	NM_001458.5(FLNC):c.707C>T (p.Ala236Val)	FLNC (A236V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GUncertain significance
Select item 432231	NM_001458.5(FLNC):c.970-4A>G	FLNC	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 26 +8 more	GConflicting classifications of pathogenicity
Select item 970997	NM_001458.5(FLNC):c.1007A>G (p.Tyr336Cys)	FLNC (Y336C)	Single nucleotide variant (missense variant)	FLNC-related disorder +4 more	GUncertain significance
Select item 2630959	NM_001458.5(FLNC):c.1199_1204del (p.Ile400_Tyr401del)	FLNC	Deletion (inframe_deletion +1 more)	FLNC-related disorder	GUncertain significance
Select item 471965	NM_001458.5(FLNC):c.1242C>T (p.Ile414=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +7 more	GLikely benign
Select item 567937	NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys)	FLNC (R437C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +6 more	GUncertain significance
Select item 2036320	NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs)	FLNC (T439fs)	Deletion (frameshift variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GPathogenic/Likely pathogenic
Select item 471970	NM_001458.5(FLNC):c.1354G>A (p.Val452Met)	FLNC (V452M)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 291068	NM_001458.5(FLNC):c.1425C>T (p.Asn475=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +8 more	GBenign
Select item 193631	NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)	FLNC (E534K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 2633211	NM_001458.5(FLNC):c.1637T>G (p.Val546Gly)	FLNC (V546G)	Single nucleotide variant (missense variant)	FLNC-related disorder	GUncertain significance
Select item 423964	NM_001458.5(FLNC):c.1645A>G (p.Ile549Val)	FLNC (I549V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +6 more	GConflicting classifications of pathogenicity
Select item 711592	NM_001458.5(FLNC):c.1650G>A (p.Thr550=)	FLNC	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GLikely benign
Select item 471985	NM_001458.5(FLNC):c.1657G>A (p.Gly553Ser)	FLNC (G553S)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +6 more	GBenign/Likely benign
Select item 3048965	NM_001458.5(FLNC):c.1761C>A (p.Gly587=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder	GLikely benign
Select item 774758	NM_001458.5(FLNC):c.1851A>G (p.Glu617=)	FLNC	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GLikely benign
Select item 471990	NM_001458.5(FLNC):c.1923C>T (p.His641=)	FLNC	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +7 more	GBenign/Likely benign
Select item 1167114	NM_001458.5(FLNC):c.1953C>T (p.Asp651=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 290012	NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)	FLNC (L659R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 471997	NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn)	FLNC, LOC129999273 (D710N)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +7 more	GConflicting classifications of pathogenicity
Select item 289074	NM_001458.5(FLNC):c.2130C>T (p.Asp710=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	FLNC-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 472000	NM_001458.5(FLNC):c.2180G>A (p.Arg727His)	FLNC (R727H)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +6 more	GBenign/Likely benign
Select item 472001	NM_001458.5(FLNC):c.2199C>G (p.Thr733=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +6 more	GBenign/Likely benign
Select item 472008	NM_001458.5(FLNC):c.2390-9T>C	FLNC	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +7 more	GBenign/Likely benign
Select item 287352	NM_001458.5(FLNC):c.2390-8C>G	FLNC	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 472009	NM_001458.5(FLNC):c.2392G>A (p.Asp798Asn)	FLNC (D798N)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +7 more	GBenign/Likely benign
Select item 385981	NM_001458.5(FLNC):c.2490C>T (p.Thr830=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +6 more	GLikely benign
Select item 1527990	NM_001458.5(FLNC):c.2502G>A (p.Thr834=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +4 more	GLikely benign
Select item 387217	NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln)	FLNC (P836Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +8 more	GBenign/Likely benign
Select item 1953331	NM_001458.5(FLNC):c.2508A>G (p.Pro836=)	FLNC	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GLikely benign
Select item 1300745	NM_001458.5(FLNC):c.2516G>A (p.Gly839Asp)	FLNC (G839D)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1151368	NM_001458.5(FLNC):c.2652C>T (p.Val884=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +5 more	GLikely benign
Select item 855393	NM_001458.5(FLNC):c.2672C>T (p.Thr891Met)	FLNC (T891M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +6 more	GConflicting classifications of pathogenicity
Select item 570761	NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)	FLNC (R916Q)	Single nucleotide variant (missense variant)	FLNC-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 2630829	NM_001458.5(FLNC):c.2848C>A (p.Pro950Thr)	FLNC (P950T)	Single nucleotide variant (missense variant)	FLNC-related disorder	GUncertain significance
Select item 1644116	NM_001458.5(FLNC):c.2874G>A (p.Val958=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +5 more	GLikely benign
Select item 382871	NM_001458.5(FLNC):c.2889G>A (p.Pro963=)	FLNC	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 493465	NM_001458.5(FLNC):c.2930-5C>T	FLNC	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1421864	NM_001458.5(FLNC):c.2999A>C (p.Asp1000Ala)	FLNC (D1000A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 671611	NM_001458.5(FLNC):c.3090C>T (p.Pro1030=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 384156	NM_001458.5(FLNC):c.3138G>A (p.Pro1046=)	FLNC	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +6 more	GBenign/Likely benign
Select item 706458	NM_001458.5(FLNC):c.3153G>A (p.Pro1051=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +7 more	GLikely benign
Select item 539366	NM_001458.5(FLNC):c.3209C>T (p.Pro1070Leu)	FLNC (P1070L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 636800	NM_001458.5(FLNC):c.3464C>T (p.Pro1155Leu)	FLNC (P1155L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +5 more	GConflicting classifications of pathogenicity
Select item 285289	NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 2196422	NM_001458.5(FLNC):c.3552C>T (p.Gly1184=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 392044	NM_001458.5(FLNC):c.3621C>T (p.Asn1207=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +8 more	GBenign
Select item 774759	NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val)	FLNC (A1247V)	Single nucleotide variant (missense variant)	FLNC-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 2633074	NM_001458.5(FLNC):c.3776G>A (p.Gly1259Asp)	FLNC (G1259D)	Single nucleotide variant (missense variant)	FLNC-related disorder	GUncertain significance
Select item 1153553	NM_001458.5(FLNC):c.3927C>T (p.Asp1309=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +5 more	GLikely benign
Select item 195740	NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 472054	NM_001458.5(FLNC):c.3972T>C (p.His1324=)	FLNC	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +6 more	GLikely benign
Select item 195741	NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)	FLNC (R1341Q)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +8 more	GConflicting classifications of pathogenicity
Select item 570414	NM_001458.5(FLNC):c.4060C>G (p.Arg1354Gly)	FLNC (R1354G)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +6 more	GUncertain significance
Select item 287999	NM_001458.5(FLNC):c.4133C>T (p.Ala1378Val)	FLNC (A1378V)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 810192	NM_001458.5(FLNC):c.4134G>A (p.Ala1378=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +6 more	GLikely benign
Select item 539469	NM_001458.5(FLNC):c.4218C>T (p.Thr1406=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +5 more	GLikely benign
Select item 1739292	NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp)	FLNC (R1426W)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1133425	NM_001458.5(FLNC):c.4293C>T (p.Ser1431=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +5 more	GLikely benign
Select item 580605	NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)	FLNC (G1456A)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 766888	NM_001458.5(FLNC):c.4459G>A (p.Val1487Met)	FLNC (V1487M)	Single nucleotide variant (missense variant)	FLNC-related disorder +5 more	GLikely benign
Select item 501268	NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)	FLNC	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 195949	NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)	FLNC (K1518R)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 472071	NM_001458.5(FLNC):c.4581-5T>A	FLNC	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +6 more	GBenign/Likely benign
Select item 472072	NM_001458.5(FLNC):c.4662C>T (p.Ile1554=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +5 more	GLikely benign
Select item 539513	NM_001458.5(FLNC):c.4952-9G>T	FLNC	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 472084	NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)	FLNC (G1674S)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +7 more	GConflicting classifications of pathogenicity
Select item 1372469	NM_001458.5(FLNC):c.5042C>T (p.Thr1681Met)	FLNC (T1681M)	Single nucleotide variant (missense variant)	FLNC-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1122631	NM_001458.5(FLNC):c.5043G>A (p.Thr1681=)	FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +5 more	GLikely benign
Select item 539504	NM_001458.5(FLNC):c.5143G>A (p.Val1715Ile)	FLNC (V1715I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 744202	NM_001458.5(FLNC):c.5220C>T (p.His1740=)	FLNC	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 1644278	NM_001458.5(FLNC):c.5370C>T (p.Pro1790=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	FLNC-related disorder +4 more	GLikely benign
Select item 966895	NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn)	FLNC, FLNC-AS1 (D1783N +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 196888	NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)	FLNC, FLNC-AS1 (R1860C +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +8 more	GBenign/Likely benign
Select item 287215	NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)	FLNC, FLNC-AS1 (I1882V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1102372	NM_001458.5(FLNC):c.5685C>T (p.Ala1895=)	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Myofibrillar myopathy 5 +5 more	GLikely benign
Select item 513333	NM_001458.5(FLNC):c.5787C>T (p.Ile1929=)	FLNC-AS1, FLNC	Single nucleotide variant (synonymous variant)	FLNC-related disorder +6 more	GLikely benign
Select item 472112	NM_001458.5(FLNC):c.5796C>T (p.Phe1932=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GLikely benign
Select item 435212	NM_001458.5(FLNC):c.5805G>A (p.Lys1935=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 774448	NM_001458.5(FLNC):c.5814G>A (p.Pro1938=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 472115	NM_001458.5(FLNC):c.5892C>T (p.Asp1964=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +6 more	GBenign/Likely benign
Select item 864369	NM_001458.5(FLNC):c.5945G>A (p.Arg1982His)	FLNC, FLNC-AS1 (R1949H +1 more)	Single nucleotide variant (missense variant)	FLNC-related disorder +6 more	GUncertain significance
Select item 539362	NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)	FLNC, FLNC-AS1 (S1985L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 848238	NM_001458.5(FLNC):c.5995C>T (p.Arg1999Trp)	FLNC, FLNC-AS1 (R1999W +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +5 more	GConflicting classifications of pathogenicity
Select item 3032844	NM_001458.5(FLNC):c.6005-5C>T	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	FLNC-related disorder	GLikely benign
Select item 3061057	NM_001458.5(FLNC):c.6052C>A (p.Arg2018Ser)	FLNC, FLNC-AS1 (R1985S +1 more)	Single nucleotide variant (missense variant)	FLNC-related disorder	GUncertain significance
Select item 956870	NM_001458.5(FLNC):c.6121G>T (p.Ala2041Ser)	FLNC, FLNC-AS1 (A2041S +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 1306938	NM_001458.5(FLNC):c.6157G>A (p.Glu2053Lys)	FLNC, FLNC-AS1 (E2020K +1 more)	Single nucleotide variant (missense variant)	FLNC-related disorder +5 more	GUncertain significance
Select item 385717	NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)	FLNC, FLNC-AS1 (V2059M +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +7 more	GBenign/Likely benign

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