ClinVar for PubMed (Select 27885498) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444426	NM_000256.3(MYBPC3):c.482C>G (p.Pro161Arg)	MYBPC3 (P161R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 1779902	NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)	MYBPC3 (S593fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 1446436	NM_000257.4(MYH7):c.2303GGCTGCTGG[1] (p.768GLL[1])	LOC126861898, MYH7	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 525030	NM_000256.3(MYBPC3):c.2950C>T (p.Gln984Ter)	MYBPC3 (Q984*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GPathogenic
Select item 454334	NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys)	MYBPC3 (R273C)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 228912	NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln)	LOC126861897, MHRT +1 more (R1574Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 181302	NM_000257.4(MYH7):c.431G>A (p.Gly144Asp)	MYH7 (G144D)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 164350	NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	MYH7 (R671C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 164147	NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)	MYBPC3 (P186L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 42914	NM_000257.4(MYH7):c.2546T>C (p.Met849Thr)	LOC126861898, MYH7 (M849T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 14120	NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	LOC126861898, MYH7 (R870H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database