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
Duplication	NM_003319.4(TTN):c.45637dup (p.Thr15213fs)	TTN	Likely pathogenic	2	179438026	179438027	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576486
single nucleotide variant	NM_001267550.2(TTN):c.64397-1G>C	TTN	Likely pathogenic	2	179450075	179450075	C	G	criteria provided, single submitter	ClinGen:CA10576497
single nucleotide variant	NM_001267550.2(TTN):c.64094-2A>G	TTN	Likely pathogenic	2	179451536	179451536	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576498
Duplication	NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)	TTN	Likely pathogenic	2	179453542	179453543	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576500
single nucleotide variant	NM_001267550.2(TTN):c.48761-1G>C	TTN	Likely pathogenic	2	179479481	179479481	C	G	criteria provided, single submitter	ClinGen:CA10576521
Deletion	NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs)	TTN	Likely pathogenic	2	179623767	179623773	AAACGTGT	A	criteria provided, single submitter	ClinGen:CA10576569
single nucleotide variant	NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)	RAF1	Pathogenic/Likely pathogenic	3	12645694	12645694	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576602
single nucleotide variant	NM_004100.5(EYA4):c.371-2A>C	EYA4	Likely pathogenic	6	133782250	133782250	A	C	criteria provided, single submitter	ClinGen:CA10576681
single nucleotide variant	NM_004281.4(BAG3):c.730C>T (p.Gln244Ter)	BAG3	Pathogenic/Likely pathogenic	10	121431989	121431989	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576778
single nucleotide variant	NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)	BAG3	Pathogenic	10	121435991	121435991	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576779