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_004281.4(BAG3):c.1345A>T (p.Lys449Ter)	BAG3	Likely pathogenic	10	121436411	121436411	A	T	criteria provided, single submitter	ClinGen:CA16612754
Duplication	NM_004281.4(BAG3):c.607dup (p.Arg203fs)	BAG3	Pathogenic	10	121431865	121431866	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612935
Deletion	NC_000011.10:g.(?_47349774)_(47351505_?)del	MYBPC3	Pathogenic	11	47371325	47373056	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)	RBM20	Pathogenic	10	112572055	112572055	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613011
single nucleotide variant	NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter)	BAG3	Pathogenic	10	121436306	121436306	G	T	criteria provided, single submitter	ClinGen:CA16613029
Deletion	NC_000011.10:g.(?_47331845)_(47336011_?)del	MYBPC3	Pathogenic	11	47353396	47357562	na	na	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.3665del (p.Gly1222fs)	MYBPC3	Pathogenic	11	47353772	47353772	TC	T	criteria provided, single submitter	ClinGen:CA16613340
Deletion	NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs)	MYBPC3	Pathogenic	11	47354127	47354127	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613343
Insertion	NM_000256.3(MYBPC3):c.2572_2573insAA (p.Ser858fs)	MYBPC3	Pathogenic	11	47358971	47358972	C	CTT	criteria provided, single submitter	ClinGen:CA16613382
Deletion	NM_000256.3(MYBPC3):c.2279del (p.Asp760fs)	MYBPC3	Pathogenic	11	47360100	47360100	GT	G	criteria provided, single submitter	ClinGen:CA16613383