ClinVar for PubMed (Select 12404107) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from PubMed

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 532778	NM_000432.4(MYL2):c.173G>T (p.Arg58Leu)	MYL2 (R58L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 132984	NM_000432.4(MYL2):c.275-58G>A	MYL2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 31775	NM_000432.4(MYL2):c.353+46dup	MYL2	Duplication (intron variant)	not specified +1 more	GBenign
Select item 31774	NM_000432.4(MYL2):c.353+51C>T	MYL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31773	NM_000432.4(MYL2):c.274+1G>C	MYL2	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 31772	NM_000432.4(MYL2):c.353+20del	MYL2	Deletion (intron variant)	Congestive heart failure +4 more	GBenign
Select item 31771	NM_000432.4(MYL2):c.132T>C (p.Ile44=)	MYL2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 14067	NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)	MYL2 (R58Q)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 14065	NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	LOC114827850, MYL2 (E22K)	Single nucleotide variant (missense variant)	MYL2-related condition +5 more	GPathogenic/Likely pathogenic