ClinVar for OMIM (Select 188840) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189787	NM_003673.4(TCAP):c.410C>T (p.Thr137Ile)	TCAP (T137I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25	GPathogenic
Select item 44710	NM_003673.4(TCAP):c.458G>A (p.Arg153His)	TCAP (R153H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 42796	NM_000256.3(MYBPC3):c.821+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +3 more	GConflicting classifications of pathogenicity
Select item 42635	NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs)	MYBPC3 (R845fs)	Deletion (frameshift variant)	Cardiomyopathy +1 more	GPathogenic
Select item 42610	NM_000256.3(MYBPC3):c.2308+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiomyopathy +4 more	GPathogenic
Select item 41925	NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)	CRYAB (R157H +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +4 more	GUncertain significance
Select item 39766	NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter)	MYBPC1 (R318* +6 more)	Single nucleotide variant (nonsense)	Myopathy, congenital, with tremor +1 more	GConflicting classifications of pathogenicity
Select item 29669	NM_001289808.2(CRYAB):c.60del (p.Ser21fs)	CRYAB (S21fs)	Deletion (frameshift variant)	Myofibrillar myopathy 2	GPathogenic
Select item 16953	NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly)	CRYAB (R120G +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2	GPathogenic
Select item 14064	NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)	MYL2, LOC114827850 (A13T)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 12441	NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)	TNNC1 (G159D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 12430	NM_000363.5(TNNI3):c.106A>C (p.Lys36Gln)	TNNI3 (K36Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1FF	GPathogenic
Select item 8610	NM_000256.3(MYBPC3):c.2309-26A>G	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 8608	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3 (E542Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +8 more	GPathogenic
Select item 5527	NM_003673.4(TCAP):c.260G>A (p.Arg87Gln)	TCAP (R87Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +2 more	GUncertain significance