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.1484G>A (p.Arg495Gln)	MYBPC3	Pathogenic/Likely pathogenic	11	47364269	47364269	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010464,UniProtKB:Q14896#VAR_027880
single nucleotide variant	NM_000256.3(MYBPC3):c.1351+1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47364571	47364571	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010136
single nucleotide variant	NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter)	MYBPC3	Pathogenic	11	47365056	47365056	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009860
single nucleotide variant	NM_000256.3(MYBPC3):c.1090+1G>T	MYBPC3	Pathogenic	11	47367757	47367757	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009753
single nucleotide variant	NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)	MYBPC3	Pathogenic	11	47367848	47367848	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009672
single nucleotide variant	NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter)	MYBPC3	Pathogenic	11	47367849	47367849	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016252
single nucleotide variant	NM_000256.3(MYBPC3):c.979C>T (p.Gln327Ter)	MYBPC3	Pathogenic	11	47367869	47367869	G	A	criteria provided, single submitter	ClinGen:CA016219
Duplication	NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter)	MYBPC3	Likely pathogenic	11	47372125	47372126	C	CA	criteria provided, single submitter	ClinGen:CA013994
Deletion	NM_004281.4(BAG3):c.72del (p.Gly25fs)	BAG3	Pathogenic/Likely pathogenic	10	121411254	121411254	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273126
Deletion	NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47353661	47353661	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014863