ClinVar for MedGen (Select 104705) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974775	NM_001159699.2(FHL1):c.710G>A (p.Cys237Tyr)	FHL1 (C221Y +2 more)	Single nucleotide variant (missense variant +2 more)	Asymmetric septal hypertrophy	GLikely pathogenic
Select item 974774	NM_001458.5(FLNC):c.6004+2T>C	FLNC, FLNC-AS1	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 26 +1 more	GLikely pathogenic
Select item 181022	NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)	MYBPC3 (N1257K)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 155808	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Heart block +12 more	GPathogenic/Likely pathogenic
Select item 42784	NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	MYBPC3 (V219L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 9606	m.4300A>G	MT-TI	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database

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