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_001267550.2(TTN):c.60581del (p.Gln20194fs)	TTN	Likely pathogenic	2	179455871	179455871	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.59926+1G>A	TTN	Pathogenic	2	179456704	179456704	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)	TTN	Likely pathogenic	2	179466064	179466064	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)	TTN	Likely pathogenic	2	179474501	179474501	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.49345+2T>C	TTN	Likely pathogenic	2	179478777	179478777	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4414T>C (p.Phe1472Leu)	SCN5A	Likely pathogenic	3	38597952	38597952	A	G	criteria provided, single submitter	ClinGen:CA16604466
Deletion	NC_000005.10:g.(?_156757561)_(156759410_?)del	SGCD	Pathogenic	5	156184572	156186421	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000337.6(SGCD):c.4-1G>T	SGCD	Likely pathogenic	5	155771498	155771498	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.2T>A (p.Met1Lys)	SDHA	Pathogenic	5	218472	218472	T	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)	SDHA	Pathogenic/Likely pathogenic	5	218510	218511	C	CGGCGCCT	criteria provided, multiple submitters, no conflicts	-