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.3472_3481del (p.Val1158fs)	MYBPC3	Pathogenic	11	47354374	47354383	GGGATAAAGAC	G	criteria provided, single submitter	ClinGen:CA014187
Duplication	NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs)	MYBPC3	Pathogenic	11	47354387	47354388	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA296496
single nucleotide variant	NM_000256.3(MYBPC3):c.3330+2T>C	MYBPC3	Pathogenic	11	47354743	47354743	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013942
Deletion	NM_000256.3(MYBPC3):c.3327del (p.Met1110fs)	MYBPC3	Pathogenic	11	47354748	47354748	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013926
Duplication	NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)	MYBPC3	Pathogenic	11	47354753	47354754	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA296434
single nucleotide variant	NM_000256.3(MYBPC3):c.3305T>A (p.Val1102Glu)	MYBPC3	Likely pathogenic	11	47354770	47354770	A	T	criteria provided, single submitter	ClinGen:CA013860
Deletion	NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs)	MYBPC3	Pathogenic	11	47354773	47354773	TG	T	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.3217del (p.Arg1073fs)	MYBPC3	Likely pathogenic	11	47354858	47354858	CG	C	criteria provided, single submitter	ClinGen:CA013676
Duplication	NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47354857	47354858	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA296433
Deletion	NM_000256.3(MYBPC3):c.3182_3190+4del	MYBPC3	Pathogenic/Likely pathogenic	11	47355104	47355116	CGCACCAACAACCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA296495