ClinVar for PubMed (Select 21799269) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705408	NM_000256.3(MYBPC3):c.2413G>A (p.Gly805Ser)	MYBPC3 (G805S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GUncertain significance
Select item 454324	NM_000256.3(MYBPC3):c.317del (p.Pro106fs)	MYBPC3 (P106fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 181397	NM_000257.4(MYH7):c.5786C>T (p.Thr1929Met)	MYH7 (T1929M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 181196	NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)	LOC126861898, MYH7 (R869C)	Single nucleotide variant (missense variant)	MYH7-Related Disorders +3 more	GPathogenic/Likely pathogenic
Select item 161396	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	TNNI3 (R162W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 43390	NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro)	TNNI3 (R162P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 43101	NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)	MYH7 (R243C)	Single nucleotide variant (missense variant)	Myosin storage myopathy +9 more	GPathogenic/Likely pathogenic
Select item 14126	NM_000257.4(MYH7):c.728G>A (p.Arg243His)	MYH7 (R243H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database

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