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
Indel	NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer)	LMNA	Likely pathogenic	1	156104269	156104273	CTGCA	ACTTGAAG	criteria provided, single submitter	-
single nucleotide variant	NM_001276345.2(TNNT2):c.294T>A (p.Asp98Glu)	TNNT2	Likely pathogenic	1	201334738	201334738	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)	TTN	Likely pathogenic	2	179396395	179396395	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)	TTN	Likely pathogenic	2	179428334	179428334	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter)	TTN	Likely pathogenic	2	179429909	179429909	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter)	SCN5A	Pathogenic	3	38648165	38648165	G	A	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37452365)_(38950372_?)del	SCN5A	Pathogenic	3	37493856	38991863	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38609714)_(38609984_?)del	SCN5A	Likely pathogenic	3	38651205	38651475	na	na	criteria provided, single submitter	-
Duplication	NM_001079802.2(FKTN):c.528dup (p.His177fs)	FKTN	Pathogenic/Likely pathogenic	9	108366651	108366652	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.4243-2A>G	SCN5A	Likely pathogenic	3	38598777	38598777	T	C	criteria provided, single submitter	-