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.1223+1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47365042	47365042	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009895
single nucleotide variant	NM_000256.3(MYBPC3):c.1201C>T (p.Gln401Ter)	MYBPC3	Pathogenic	11	47365065	47365065	G	A	criteria provided, single submitter	ClinGen:CA009855
single nucleotide variant	NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter)	MYBPC3	Pathogenic	11	47365078	47365078	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009844
Duplication	NM_000256.3(MYBPC3):c.1156_1171dup (p.Asp391delinsGlyThrGlyTer)	MYBPC3	Pathogenic	11	47365094	47365095	T	TCATGGTCAGCCAGTTC	criteria provided, single submitter	ClinGen:CA296444
Duplication	NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47365103	47365104	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA296500
Duplication	NM_000256.3(MYBPC3):c.1120dup (p.Gln374fs)	MYBPC3	Pathogenic	11	47365145	47365146	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA009794
single nucleotide variant	NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter)	MYBPC3	Pathogenic	11	47365146	47365146	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009800
single nucleotide variant	NM_000256.3(MYBPC3):c.1090+2T>G	MYBPC3	Pathogenic	11	47367756	47367756	A	C	criteria provided, single submitter	ClinGen:CA009758
Duplication	NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs)	MYBPC3	Pathogenic	11	47367763	47367764	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA296499
single nucleotide variant	NM_000256.3(MYBPC3):c.1080G>C (p.Lys360Asn)	MYBPC3	Likely pathogenic	11	47367768	47367768	C	G	criteria provided, single submitter	ClinGen:CA009741