C1861862[trait identifier] AND "KardioGenetik, Herz- und Diabeteszentr - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 524959	NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu)	MYBPC3 (S1191L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 3258073	NM_000256.3(MYBPC3):c.2149-3C>G	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4	GUncertain significance
Select item 2570634	NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs)	MYBPC3 (I551fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 164116	NM_000256.3(MYBPC3):c.1457+5G>C	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely pathogenic
Select item 219403	NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met)	MYBPC3 (V385M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +4 more	GUncertain significance
Select item 161310	NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)	MYBPC3 (V321M)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 2775400	NG_007667.1:g.(47337390_47336011)_(47331406_?)del	MYBPC3	Deletion	Hypertrophic cardiomyopathy 4	GPathogenic

ClinVar