ClinVar for MedGen (Select 1794147) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1387258	NM_000432.4(MYL2):c.50T>C (p.Val17Ala)	LOC114827850, MYL2 (V17A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 1297593	NM_000432.4(MYL2):c.376C>T (p.Gln126Ter)	MYL2 (Q126*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1043372	NM_000432.4(MYL2):c.432del (p.Asp145fs)	MYL2 (D145fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 927979	NM_000432.4(MYL2):c.206T>C (p.Met69Thr)	MYL2 (M69T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +3 more	GUncertain significance
Select item 884050	NM_000432.4(MYL2):c.*84C>T	MYL2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 654375	NM_000432.4(MYL2):c.142G>A (p.Asp48Asn)	MYL2 (D48N)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 626790	NM_000432.4(MYL2):c.431_432del (p.Pro144fs)	MYL2 (P144fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 567448	NM_000432.4(MYL2):c.203A>G (p.Glu68Gly)	MYL2 (E68G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +3 more	GUncertain significance
Select item 464145	NM_000432.4(MYL2):c.375G>A (p.Thr125=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 423350	NM_000432.4(MYL2):c.376C>G (p.Gln126Glu)	MYL2 (Q126E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 191580	NM_000432.4(MYL2):c.431del (p.Pro144fs)	MYL2 (P144fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 181434	NM_000432.4(MYL2):c.358C>G (p.Arg120Gly)	MYL2 (R120G)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy +5 more	GUncertain significance
Select item 181427	NM_000432.4(MYL2):c.97T>C (p.Phe33Leu)	MYL2 (F33L)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 181424	NM_000432.4(MYL2):c.49G>A (p.Val17Met)	MYL2, LOC114827850 (V17M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +5 more	GUncertain significance
Select item 177824	NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)	MYL2 (P143L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +4 more	GUncertain significance
Select item 36645	NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)	MYL2 (R120Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 31772	NM_000432.4(MYL2):c.353+20del	MYL2	Deletion (intron variant)	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy +4 more	GBenign
Select item 31768	NM_000432.4(MYL2):c.403-1G>C	MYL2	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 10 +3 more	GConflicting classifications of pathogenicity
Select item 31766	NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)	MYL2 (N47K)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 14068	NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)	LOC114827850, MYL2 (F18L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 20