"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162723	NM_001103.4(ACTN2):c.-3G>T	ACTN2	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 43919	NM_001103.4(ACTN2):c.18C>T (p.Pro6=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 18313	NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)	ACTN2 (Q9R)	Single nucleotide variant (missense variant +1 more)	ACTN2-related condition +10 more	GConflicting classifications of pathogenicity
Select item 43939	NM_001103.4(ACTN2):c.48G>A (p.Glu16=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 43953	NM_001103.4(ACTN2):c.93C>T (p.Leu31=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
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 43918	NM_001103.4(ACTN2):c.186C>T (p.Ile62=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 162725	NM_001103.4(ACTN2):c.324C>A (p.Ala108=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 43936	NM_001103.4(ACTN2):c.343G>A (p.Val115Met)	ACTN2 (V115M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 136282	NM_001103.4(ACTN2):c.351= (p.Ile117=)	ACTN2	Single nucleotide variant (no sequence alteration)	Dilated cardiomyopathy 1AA +2 more	GBenign
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 180111	NM_001103.4(ACTN2):c.354C>T (p.Gly118=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 162727	NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)	ACTN2 (A119T)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 136283	NM_001103.4(ACTN2):c.378= (p.Asn126=)	ACTN2	Single nucleotide variant (no sequence alteration)	Dilated cardiomyopathy 1AA +2 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 179815	NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr)	ACTN2 (R169T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +5 more	GConflicting classifications of pathogenicity
Select item 228437	NM_001103.4(ACTN2):c.536+6C>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +5 more	GUncertain significance
Select item 43940	NM_001103.4(ACTN2):c.536+10C>T	ACTN2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 43941	NM_001103.4(ACTN2):c.578_583del (p.191HR[1])	ACTN2	Deletion (inframe_deletion +1 more)	not specified	GUncertain significance
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 517375	NM_001103.4(ACTN2):c.655G>A (p.Ala219Thr)	ACTN2 (A219T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
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 506281	NM_001103.4(ACTN2):c.706A>G (p.Asn236Asp)	ACTN2 (N236D)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 43944	NM_001103.4(ACTN2):c.736A>G (p.Met246Val)	ACTN2 (M246V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 264452	NM_001103.4(ACTN2):c.745G>A (p.Val249Ile)	ACTN2 (V249I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 43945	NM_001103.4(ACTN2):c.753C>T (p.Cys251=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +2 more	GLikely benign
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 177799	NM_001103.4(ACTN2):c.783+22G>A	ACTN2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 43947	NM_001103.4(ACTN2):c.786C>T (p.Ala262=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 227175	NM_001103.4(ACTN2):c.795G>A (p.Ala265=)	ACTN2	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 228436	NM_001103.4(ACTN2):c.826A>G (p.Asn276Asp)	ACTN2 (N276D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 504904	NM_001103.4(ACTN2):c.829C>G (p.Gln277Glu)	ACTN2 (Q277E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 177800	NM_001103.4(ACTN2):c.877-8=	ACTN2	Single nucleotide variant (intron variant)	not specified	GBenign
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)	Dilated cardiomyopathy 1AA +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 228438	NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys)	ACTN2 (R299C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 43952	NM_001103.4(ACTN2):c.927C>T (p.Pro309=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 178985	NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)	ACTN2 (T347M +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 43893	NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp)	ACTN2 (R353W +1 more)	Single nucleotide variant (missense variant)	not specified +5 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 43895	NM_001103.4(ACTN2):c.1104G>A (p.Val368=)	ACTN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43896	NM_001103.4(ACTN2):c.1108-10A>G	ACTN2	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 179008	NM_001103.4(ACTN2):c.1108-3C>T	ACTN2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 215781	NM_001103.4(ACTN2):c.1155C>T (p.Tyr385=)	ACTN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 43897	NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)	ACTN2 (T412M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +5 more	GConflicting classifications of pathogenicity
Select item 43898	NM_001103.4(ACTN2):c.1278G>A (p.Gln426=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA +2 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)	ACTN2-related condition +6 more	GBenign/Likely benign
Select item 43900	NM_001103.4(ACTN2):c.1305A>G (p.Thr435=)	ACTN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 43901	NM_001103.4(ACTN2):c.1338G>A (p.Ala446=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely 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 191594	NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val)	ACTN2 (A453V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 179702	NM_001103.4(ACTN2):c.1361A>C (p.His454Pro)	ACTN2 (H454P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43903	NM_001103.4(ACTN2):c.1371C>T (p.Arg457=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 228434	NM_001103.4(ACTN2):c.1381A>G (p.Ile461Val)	ACTN2 (I461V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43904	NM_001103.4(ACTN2):c.1383C>T (p.Ile461=)	ACTN2	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 43905	NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser)	ACTN2 (A462S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +5 more	GConflicting classifications of pathogenicity
Select item 43906	NM_001103.4(ACTN2):c.1406+8C>T	ACTN2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43907	NM_001103.4(ACTN2):c.1411C>G (p.Leu471Val)	ACTN2 (L471V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929869	NM_001103.4(ACTN2):c.1422C>T (p.His474=)	ACTN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
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 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 179093	NM_001103.4(ACTN2):c.1460G>T (p.Cys487Phe)	ACTN2 (C487F +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 43910	NM_001103.4(ACTN2):c.1476A>T (p.Arg492=)	ACTN2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 43911	NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)	ACTN2 (T495M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 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 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 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 43913	NM_001103.4(ACTN2):c.1593G>A (p.Trp531Ter)	ACTN2 (W531* +1 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 385343	NM_001103.4(ACTN2):c.1698C>T (p.Pro566=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 43914	NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp)	ACTN2 (R572W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 178004	NM_001103.4(ACTN2):c.1794G>A (p.Pro598=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 43915	NM_001103.4(ACTN2):c.1810A>G (p.Met604Val)	ACTN2 (M604V +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 43916	NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp)	ACTN2 (R608W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 208561	NM_001103.4(ACTN2):c.1839+5G>C	ACTN2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 179767	NM_001103.4(ACTN2):c.1899T>G (p.His633Gln)	ACTN2 (H633Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43920	NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)	ACTN2 (A644T +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 43921	NM_001103.4(ACTN2):c.1932C>A (p.Ala644=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +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 179584	NM_001103.4(ACTN2):c.1975-6C>A	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +2 more	GConflicting classifications of pathogenicity
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 43922	NM_001103.4(ACTN2):c.2003C>G (p.Thr668Arg)	ACTN2 (T668R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 162739	NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys)	ACTN2 (Y688C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
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 463200	NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu)	ACTN2 (Q703L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
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 specified +6 more	GConflicting classifications of pathogenicity
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 177937	NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)	ACTN2 (R721S +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 201647	NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr)	ACTN2 (A732T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +6 more	GConflicting classifications of pathogenicity
Select item 162741	NM_001103.4(ACTN2):c.2235A>G (p.Arg745=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 179856	NM_001103.4(ACTN2):c.2302-3C>A	ACTN2	Single nucleotide variant (intron variant)	not specified	GUncertain significance

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