特発性拡張型心筋症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000256.3(MYBPC3):c.3775C>T (p.Gln1259Ter)	MYBPC3	Likely pathogenic	11	47353662	47353662	G	A	criteria provided, single submitter	ClinGen:CA014855
single nucleotide variant	NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47353664	47353664	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014846
single nucleotide variant	NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47353705	47353705	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014689
single nucleotide variant	NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro)	MYBPC3	Likely pathogenic	11	47353724	47353724	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014684
single nucleotide variant	NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter)	MYBPC3	Pathogenic	11	47353773	47353773	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014571
single nucleotide variant	NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter)	MYBPC3	Pathogenic	11	47353796	47353796	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014541
single nucleotide variant	NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter)	MYBPC3	Pathogenic	11	47354191	47354191	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014331
single nucleotide variant	NM_000256.3(MYBPC3):c.3541C>G (p.Pro1181Ala)	MYBPC3	Likely pathogenic	11	47354203	47354203	G	C	criteria provided, single submitter	ClinGen:CA014307
single nucleotide variant	NM_000256.3(MYBPC3):c.3491-3C>G	MYBPC3	Likely pathogenic	11	47354256	47354256	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014283
single nucleotide variant	NM_000256.3(MYBPC3):c.3490+1G>T	MYBPC3	Pathogenic/Likely pathogenic	11	47354364	47354364	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014240