"Clinical Genetics, Academic Medical Center"[submitter] AND "ACTN2"[ge - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 567483	NM_001103.4(ACTN2):c.127-3C>A	ACTN2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 35648	NM_001103.4(ACTN2):c.165C>T (p.Ala55=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1284674	NM_001103.4(ACTN2):c.343G>C (p.Val115Leu)	ACTN2 (V115L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 43937	NM_001103.4(ACTN2):c.351T>C (p.Ile117=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Myopathy, congenital, with structured cores and z-line abnormalities +4 more	GBenign
Select item 43938	NM_001103.4(ACTN2):c.378C>T (p.Asn126=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Myopathy, congenital, with structured cores and z-line abnormalities +4 more	GBenign
Select item 136284	NM_001103.4(ACTN2):c.441G>A (p.Ser147=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 43940	NM_001103.4(ACTN2):c.536+10C>T	ACTN2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 178003	NM_001103.4(ACTN2):c.615+15C>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +2 more	GBenign/Likely benign
Select item 412278	NM_001103.4(ACTN2):c.616-3C>T	ACTN2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43942	NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)	ACTN2 (D230E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 43943	NM_001103.4(ACTN2):c.705G>C (p.Val235=)	ACTN2	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GBenign
Select item 43946	NM_001103.4(ACTN2):c.762C>T (p.His254=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 673843	NM_001103.4(ACTN2):c.784-518del	ACTN2 (P32fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
Select item 43948	NM_001103.4(ACTN2):c.870G>A (p.Ala290=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA +4 more	GBenign/Likely benign
Select item 43950	NM_001103.4(ACTN2):c.877-8C>G	ACTN2	Single nucleotide variant (intron variant)	Myopathy, congenital, with structured cores and z-line abnormalities +4 more	GBenign/Likely benign
Select item 43949	NM_001103.4(ACTN2):c.877-6G>A	ACTN2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 43951	NM_001103.4(ACTN2):c.893G>A (p.Arg298His)	ACTN2 (R298H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 412265	NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg)	ACTN2 (W388R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +3 more	GConflicting classifications of pathogenicity
Select item 463190	NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys)	ACTN2 (R398C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1284366	NM_001103.4(ACTN2):c.1256-13A>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 43899	NM_001103.4(ACTN2):c.1296G>A (p.Ala432=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 177977	NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu)	ACTN2 (S433L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 43902	NM_001103.4(ACTN2):c.1341C>T (p.Phe447=)	ACTN2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 43903	NM_001103.4(ACTN2):c.1371C>T (p.Arg457=)	ACTN2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 43904	NM_001103.4(ACTN2):c.1383C>T (p.Ile461=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 43908	NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn)	ACTN2 (D475N +1 more)	Single nucleotide variant (missense variant)	Myopathy, congenital, with structured cores and z-line abnormalities +7 more	GBenign/Likely benign
Select item 192111	NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr)	ACTN2 (A476T +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 191595	NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp)	ACTN2 (R482W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 43909	NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 178825	NM_001103.4(ACTN2):c.1485G>A (p.Thr495=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA +4 more	GLikely benign
Select item 1284862	NM_001103.4(ACTN2):c.1512A>G (p.Leu504=)	ACTN2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 43912	NM_001103.4(ACTN2):c.1515+15C>T	ACTN2	Single nucleotide variant (intron variant)	Myopathy, congenital, with structured cores and z-line abnormalities +4 more	GBenign/Likely benign
Select item 1041620	NM_001103.4(ACTN2):c.1541T>C (p.Ile514Thr)	ACTN2 (I306T +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 201623	NM_001103.4(ACTN2):c.1657-16T>C	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +3 more	GBenign
Select item 518314	NM_001103.4(ACTN2):c.1693C>T (p.Leu565=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA +3 more	GLikely benign
Select item 136286	NM_001103.4(ACTN2):c.1704G>A (p.Ala568=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1284377	NM_001103.4(ACTN2):c.1741G>A (p.Glu581Lys)	ACTN2 (E373K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 43915	NM_001103.4(ACTN2):c.1810A>G (p.Met604Val)	ACTN2 (M604V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 43917	NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn)	ACTN2 (D622N +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 43921	NM_001103.4(ACTN2):c.1932C>A (p.Ala644=)	ACTN2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 136288	NM_001103.4(ACTN2):c.1975-12C>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +2 more	GBenign/Likely benign
Select item 179551	NM_001103.4(ACTN2):c.1975-6C>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +4 more	GBenign
Select item 43924	NM_001103.4(ACTN2):c.2076C>T (p.Ile692=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 35649	NM_001103.4(ACTN2):c.2139G>A (p.Thr713=)	ACTN2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 227174	NM_001103.4(ACTN2):c.2148G>A (p.Thr716=)	ACTN2	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +5 more	GLikely benign
Select item 136289	NM_001103.4(ACTN2):c.2368-17T>C	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +2 more	GBenign
Select item 43928	NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys)	ACTN2 (R796C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 238300	NM_001103.4(ACTN2):c.2412C>T (p.Asn804=)	ACTN2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 387615	NM_001103.4(ACTN2):c.2446G>A (p.Asp816Asn)	ACTN2 (D816N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 191600	NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)	ACTN2 (R851H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 532051	NM_001103.4(ACTN2):c.2560C>T (p.Leu854=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA +2 more	GLikely benign
Select item 216493	NM_001103.4(ACTN2):c.2569G>C (p.Asp857His)	ACTN2 (D857H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 43932	NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu)	ACTN2 (I863L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +4 more	GUncertain significance
Select item 296510	NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)	ACTN2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 43933	NM_001103.4(ACTN2):c.2610G>A (p.Ser870=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 43934	NM_001103.4(ACTN2):c.2649G>A (p.Ala883=)	ACTN2	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity

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Items: 56