ClinVar for MedGen (Select 331754) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065627	NM_000432.4(MYL2):c.3+1G>A	LOC114827850, MYL2	Single nucleotide variant (intron variant +1 more)	Hypertrophic cardiomyopathy 10	GLikely pathogenic
Select item 3022760	NM_000432.4(MYL2):c.354-8C>T	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 3014247	NM_000432.4(MYL2):c.402+9del	MYL2	Deletion (intron variant)	Hypertrophic cardiomyopathy 10	GBenign
Select item 3013933	NM_000432.4(MYL2):c.274+13G>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 3011631	NM_000432.4(MYL2):c.330C>A (p.Gly110=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2990885	NM_000432.4(MYL2):c.222G>T (p.Pro74=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2978225	NM_000432.4(MYL2):c.275-18C>T	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2972663	NM_000432.4(MYL2):c.403-3C>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2961781	NM_000432.4(MYL2):c.274+20T>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2916847	NM_000432.4(MYL2):c.337G>T (p.Val113Leu)	MYL2 (V113L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2906498	NM_000432.4(MYL2):c.122A>T (p.Asp41Val)	MYL2 (D22V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2905552	NM_000432.4(MYL2):c.274+4A>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2887378	NM_000432.4(MYL2):c.426C>A (p.Phe142Leu)	MYL2 (F123L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2887136	NM_000432.4(MYL2):c.402+20A>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2886292	NM_000432.4(MYL2):c.170-20G>A	MYL2	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2863383	NM_000432.4(MYL2):c.354-4G>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2860506	NM_000432.4(MYL2):c.41A>T (p.Asn14Ile)	LOC114827850, MYL2 (N14I)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2858215	NM_000432.4(MYL2):c.4-8T>A	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2856574	NM_000432.4(MYL2):c.274+9GT[4]	MYL2	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2849024	NM_000432.4(MYL2):c.62T>C (p.Phe21Ser)	LOC114827850, MYL2 (F21S +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2842491	NM_000432.4(MYL2):c.123T>C (p.Asp41=)	MYL2	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2821633	NM_000432.4(MYL2):c.351T>C (p.Asp117=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2818712	NM_000432.4(MYL2):c.277G>C (p.Ala93Pro)	MYL2 (A93P +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2803761	NM_000432.4(MYL2):c.420C>A (p.Ala140=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2803075	NM_000432.4(MYL2):c.274+9G>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2796233	NM_000432.4(MYL2):c.3+5G>C	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2786750	NM_000432.4(MYL2):c.403-9T>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2770471	NM_000432.4(MYL2):c.19_23del (p.Lys7fs)	LOC114827850, MYL2 (K7fs)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2753954	NM_000432.4(MYL2):c.274+18T>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2743271	NM_000432.4(MYL2):c.275-15T>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2732051	NM_000432.4(MYL2):c.353+12C>T	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2701264	NM_000432.4(MYL2):c.172C>G (p.Arg58Gly)	MYL2 (R58G +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2701127	NM_000432.4(MYL2):c.93+14T>G	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2700757	NM_000432.4(MYL2):c.84A>C (p.Glu28Asp)	LOC114827850, MYL2 (E9D +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2696921	NM_000432.4(MYL2):c.403-16T>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2423084	NC_000012.11:g.(?_111350880)_(111352114_?)dup	MYL2	Duplication	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2423083	NC_000012.11:g.(?_111348881)_(111358333_?)dup	MYL2	Duplication	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2423082	NC_000012.11:g.(?_111356888)_(111358333_?)del	MYL2	Deletion	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2423081	NC_000012.11:g.(?_111348881)_(111358333_?)del	MYL2	Deletion	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2189046	NM_000432.4(MYL2):c.4-9T>C	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2187847	NM_000432.4(MYL2):c.3+20G>A	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2185714	NM_000432.4(MYL2):c.3+14C>T	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2178055	NM_000432.4(MYL2):c.275-19G>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2172098	NM_000432.4(MYL2):c.431C>T (p.Pro144Leu)	MYL2 (P130L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2163541	NM_000432.4(MYL2):c.160G>A (p.Ala54Thr)	MYL2 (A35T +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2161261	NM_000432.4(MYL2):c.353+19G>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2156350	NM_000432.4(MYL2):c.403G>T (p.Val135Phe)	MYL2 (V135F +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2155092	NM_000432.4(MYL2):c.166_169+13del	MYL2	Deletion (splice donor variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2153962	NM_000432.4(MYL2):c.402+9G>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2152603	NM_000432.4(MYL2):c.403-18G>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2150194	NM_000432.4(MYL2):c.274+11_274+12insGC	MYL2	Insertion (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2150105	NM_000432.4(MYL2):c.4-8del	LOC114827850, MYL2	Deletion (intron variant)	Hypertrophic cardiomyopathy 10	GBenign
Select item 2148683	NM_000432.4(MYL2):c.403-1G>A	MYL2	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 10	GPathogenic
Select item 2129339	NM_000432.4(MYL2):c.341_348dup (p.Asp117Ter)	MYL2 (D117*)	Duplication (frameshift variant +1 more)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2126167	NM_000432.4(MYL2):c.101C>A (p.Thr34Asn)	MYL2 (T34N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2119862	NM_000432.4(MYL2):c.402+7G>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2118765	NM_000432.4(MYL2):c.94-17T>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 2094680	NM_000432.4(MYL2):c.436G>C (p.Val146Leu)	MYL2 (V132L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2087800	NM_000432.4(MYL2):c.94-1G>C	MYL2	Single nucleotide variant (splice acceptor variant +1 more)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2078669	NM_000432.4(MYL2):c.424T>A (p.Phe142Ile)	MYL2 (F123I +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2046379	NM_000432.4(MYL2):c.259G>C (p.Gly87Arg)	MYL2 (G87R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2020978	NM_000432.4(MYL2):c.50del (p.Val17fs)	LOC114827850, MYL2 (V17fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2017686	NM_000432.4(MYL2):c.263A>C (p.Glu88Ala)	MYL2 (E69A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2011320	NM_000432.4(MYL2):c.169+3A>T	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2002303	NM_000432.4(MYL2):c.493A>G (p.Lys165Glu)	MYL2 (K151E +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2000385	NM_000432.4(MYL2):c.486A>T (p.Gly162=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1996556	NM_000432.4(MYL2):c.284C>T (p.Pro95Leu)	MYL2 (P76L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1990843	NM_000432.4(MYL2):c.391T>A (p.Ser131Thr)	MYL2 (S131T +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1982586	NM_000432.4(MYL2):c.221C>G (p.Pro74Arg)	MYL2 (P60R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1948991	NM_000432.4(MYL2):c.389T>A (p.Phe130Tyr)	MYL2 (F130Y +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1941373	NM_000432.4(MYL2):c.18A>G (p.Ala6=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 1917754	NM_000432.4(MYL2):c.419C>T (p.Ala140Val)	MYL2 (A140V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1915074	NM_000432.4(MYL2):c.409C>T (p.Gln137Ter)	MYL2 (Q118* +2 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1761593	NM_000432.4(MYL2):c.7C>T (p.Pro3Ser)	LOC114827850, MYL2 (P3S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 1742964	NM_000432.4(MYL2):c.476T>C (p.Ile159Thr)	MYL2 (I159T +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 1727605	NM_000432.4(MYL2):c.30C>G (p.Ala10=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 1720074	NM_000432.4(MYL2):c.490G>A (p.Glu164Lys)	MYL2 (E145K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1699424	NM_000432.4(MYL2):c.205A>C (p.Met69Leu)	MYL2 (M69L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1660192	NM_000432.4(MYL2):c.353+9G>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1634831	NM_000432.4(MYL2):c.367C>T (p.Leu123=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1631450	NM_000432.4(MYL2):c.170-17T>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1628718	NM_000432.4(MYL2):c.274+7T>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1625590	NM_000432.4(MYL2):c.138G>A (p.Lys46=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 1621503	NM_000432.4(MYL2):c.169+13C>T	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1614142	NM_000432.4(MYL2):c.99C>T (p.Phe33=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1612400	NM_000432.4(MYL2):c.402+10T>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1610594	NM_000432.4(MYL2):c.353+21A>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1610251	NM_000432.4(MYL2):c.4-19C>T	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1596242	NM_000432.4(MYL2):c.94-15A>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1592877	NM_000432.4(MYL2):c.93+9A>G	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1590415	NM_000432.4(MYL2):c.94-16C>G	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1588789	NM_000432.4(MYL2):c.93+15T>C	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1563334	NM_000432.4(MYL2):c.354-20C>G	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1560071	NM_000432.4(MYL2):c.4-6_4-5delinsTT	LOC114827850, MYL2	Indel (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1555160	NM_000432.4(MYL2):c.183G>A (p.Val61=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1553174	NM_000432.4(MYL2):c.169+18G>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1542773	NM_000432.4(MYL2):c.354-17C>G	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1536359	NM_000432.4(MYL2):c.501G>A (p.Ter167=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1531908	NM_000432.4(MYL2):c.30C>A (p.Ala10=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1519000	NM_000432.4(MYL2):c.93+4G>A	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GUncertain significance

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