C2677338[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876165	NM_001103.3(ACTN2):c.-223C>T	ACTN2	Single nucleotide variant	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296490	NM_001103.4(ACTN2):c.-159C>T	ACTN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296491	NM_001103.4(ACTN2):c.-104C>A	ACTN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 136287	NM_001103.4(ACTN2):c.-22C>T	ACTN2	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 296494	NM_001103.4(ACTN2):c.-7G>A	ACTN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 162724	NM_001103.4(ACTN2):c.18C>A (p.Pro6=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	ACTN2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 18313	NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)	ACTN2 (Q9R)	Single nucleotide variant (missense variant +1 more)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 296495	NM_001103.4(ACTN2):c.31A>C (p.Asn11His)	ACTN2 (N11H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 296496	NM_001103.4(ACTN2):c.122G>A (p.Arg41Lys)	ACTN2 (R41K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 296497	NM_001103.4(ACTN2):c.126+15G>C	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296498	NM_001103.4(ACTN2):c.166G>A (p.Gly56Ser)	ACTN2 (G56S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 874331	NM_001103.4(ACTN2):c.352G>A (p.Gly118Ser)	ACTN2 (G118S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 219427	NM_001103.4(ACTN2):c.546T>C (p.Asp182=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +5 more	GConflicting classifications of pathogenicity
Select item 238302	NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe)	ACTN2 (L186F)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +5 more	GConflicting classifications of pathogenicity
Select item 701655	NM_001103.4(ACTN2):c.645C>T (p.Ala215=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +4 more	GConflicting classifications of pathogenicity
Select item 296499	NM_001103.4(ACTN2):c.646A>G (p.Met216Val)	ACTN2 (M216V)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +3 more	GUncertain significance
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 296500	NM_001103.4(ACTN2):c.777G>A (p.Ala259=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 43951	NM_001103.4(ACTN2):c.893G>A (p.Arg298His)	ACTN2 (R298H +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 296501	NM_001103.4(ACTN2):c.918C>T (p.Asn306=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 296502	NM_001103.4(ACTN2):c.947T>C (p.Met316Thr)	ACTN2 (M316T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 263547	NM_001103.4(ACTN2):c.979C>T (p.Arg327Cys)	ACTN2 (R327C +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 296503	NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln)	ACTN2 (R328Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 412269	NM_001103.4(ACTN2):c.1081A>G (p.Met361Val)	ACTN2 (M361V +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 43894	NM_001103.4(ACTN2):c.1089C>T (p.Ser363=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA +4 more	GConflicting classifications of pathogenicity
Select item 296505	NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu)	ACTN2 (S369L +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 463187	NM_001103.4(ACTN2):c.1107G>A (p.Ser369=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 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 874393	NM_001103.4(ACTN2):c.1238A>T (p.His413Leu)	ACTN2 (H205L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 264330	NM_001103.4(ACTN2):c.1323G>A (p.Leu441=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 874394	NM_001103.4(ACTN2):c.1370G>A (p.Arg457His)	ACTN2 (R249H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 43903	NM_001103.4(ACTN2):c.1371C>T (p.Arg457=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA +6 more	GBenign/Likely benign
Select item 43904	NM_001103.4(ACTN2):c.1383C>T (p.Ile461=)	ACTN2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 43906	NM_001103.4(ACTN2):c.1406+8C>T	ACTN2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +4 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)	not provided +7 more	GBenign/Likely benign
Select item 532036	NM_001103.4(ACTN2):c.1426G>T (p.Ala476Ser)	ACTN2 (A476S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +1 more	GConflicting classifications of pathogenicity
Select item 192111	NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr)	ACTN2 (A476T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 43909	NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)	ACTN2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 876267	NM_001103.4(ACTN2):c.1494G>C (p.Gln498His)	ACTN2 (Q290H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 162735	NM_001103.4(ACTN2):c.1519A>G (p.Met507Val)	ACTN2 (M507V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +4 more	GConflicting classifications of pathogenicity
Select item 201643	NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn)	ACTN2 (S600N +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 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 296506	NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln)	ACTN2 (R608Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43917	NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn)	ACTN2 (D622N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 296507	NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys)	ACTN2 (R640C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 43920	NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)	ACTN2 (A644T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +7 more	GConflicting classifications of pathogenicity
Select item 876387	NM_001103.4(ACTN2):c.1944C>T (p.Ala648=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 43923	NM_001103.4(ACTN2):c.2052C>T (p.Asn684=)	ACTN2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 876388	NM_001103.4(ACTN2):c.2065A>G (p.Lys689Glu)	ACTN2 (K689E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 35649	NM_001103.4(ACTN2):c.2139G>A (p.Thr713=)	ACTN2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GBenign/Likely benign
Select item 35650	NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)	ACTN2 (T716M +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 660556	NM_001103.4(ACTN2):c.2154+5G>A	ACTN2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 177937	NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)	ACTN2 (R721S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +7 more	GConflicting classifications of pathogenicity
Select item 296508	NM_001103.4(ACTN2):c.2201C>T (p.Thr734Ile)	ACTN2 (T734I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 429493	NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met)	ACTN2 (T744M +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 296509	NM_001103.4(ACTN2):c.2241G>A (p.Ala747=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA +1 more	GConflicting classifications of pathogenicity
Select item 874435	NM_001103.4(ACTN2):c.2334C>T (p.Phe778=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 162743	NM_001103.4(ACTN2):c.2367+8A>G	ACTN2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43931	NM_001103.4(ACTN2):c.2568G>A (p.Pro856=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 296510	NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 191601	NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr)	ACTN2 (A887T +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 463208	NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn)	ACTN2 (D893N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 296511	NM_001103.4(ACTN2):c.*43A>C	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 875346	NM_001103.4(ACTN2):c.*46C>T	ACTN2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 875400	NM_001103.4(ACTN2):c.*106A>G	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 875401	NM_001103.4(ACTN2):c.*128G>A	ACTN2	Single nucleotide variant (3 prime UTR variant)	Myopathy, congenital, with structured cores and z-line abnormalities +2 more	GUncertain significance
Select item 296513	NM_001103.4(ACTN2):c.*157C>T	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296514	NM_001103.4(ACTN2):c.*286T>C	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 876432	NM_001103.4(ACTN2):c.*488A>C	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 874479	NM_001103.4(ACTN2):c.*551G>A	ACTN2	Single nucleotide variant (3 prime UTR variant)	Myopathy, congenital, with structured cores and z-line abnormalities +2 more	GUncertain significance
Select item 874480	NM_001103.4(ACTN2):c.*641C>T	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 874530	NM_001103.4(ACTN2):c.*848C>G	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296522	NM_001103.4(ACTN2):c.*886T>G	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 874531	NM_001103.4(ACTN2):c.*899A>G	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 874532	NM_001103.4(ACTN2):c.*911A>G	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 874533	NM_001103.4(ACTN2):c.*979C>A	ACTN2	Single nucleotide variant (3 prime UTR variant)	Myopathy, congenital, with structured cores and z-line abnormalities +2 more	GUncertain significance
Select item 874534	NM_001103.4(ACTN2):c.*1001T>A	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 296524	NM_001103.4(ACTN2):c.*1040G>A	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GLikely benign
Select item 296525	NM_001103.4(ACTN2):c.*1087G>A	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GLikely benign
Select item 296526	NM_001103.4(ACTN2):c.*1097G>A	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296527	NM_001103.4(ACTN2):c.*1109C>T	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 875457	NM_001103.4(ACTN2):c.*1116G>A	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296528	NM_001103.4(ACTN2):c.*1253G>T	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 875458	NM_001103.4(ACTN2):c.*1259G>A	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296529	NM_001103.4(ACTN2):c.*1273C>T	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296531	NM_001103.4(ACTN2):c.*1288T>G	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296532	NM_001103.4(ACTN2):c.*1301T>C	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 876475	NM_001103.4(ACTN2):c.*1645C>G	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 296533	NM_001103.4(ACTN2):c.*1651G>T	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 876476	NM_001103.4(ACTN2):c.*1703C>T	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 876477	NM_001103.4(ACTN2):c.*1704C>T	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 876478	NM_001103.4(ACTN2):c.*1969C>T	ACTN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1AA +3 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 97