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
Deletion	NM_000256.3(MYBPC3):c.2744del (p.Glu915fs)	MYBPC3	Pathogenic	11	47356754	47356754	CT	C	criteria provided, single submitter	ClinGen:CA012927
Deletion	NM_000256.3(MYBPC3):c.2739del (p.Ser914fs)	MYBPC3	Likely pathogenic	11	47356759	47356759	AG	A	criteria provided, single submitter	ClinGen:CA012918
Deletion	NM_000256.3(MYBPC3):c.2737del (p.Cys913fs)	MYBPC3	Pathogenic	11	47357428	47357428	CA	C	criteria provided, single submitter	ClinGen:CA012912
Deletion	NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs)	MYBPC3	Pathogenic	11	47357446	47357456	TCCACGCTGTAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012846
Deletion	NM_000256.3(MYBPC3):c.2610del (p.Ser871fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47357555	47357555	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012712
Deletion	NM_000256.3(MYBPC3):c.2604del (p.Ser871fs)	MYBPC3	Pathogenic	11	47357561	47357561	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012697
Deletion	NM_000256.3(MYBPC3):c.2543del (p.Ala848fs)	MYBPC3	Pathogenic	11	47359001	47359001	CG	C	criteria provided, single submitter	ClinGen:CA012582
Deletion	NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47359006	47359012	AGACGCGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012500
Deletion	NM_000256.3(MYBPC3):c.2511del (p.Ile837fs)	MYBPC3	Pathogenic	11	47359033	47359033	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012413
Deletion	NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs)	MYBPC3	Pathogenic	11	47359085	47359089	CCGCAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012310