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_000363.5(TNNI3):c.523C>T (p.Gln175Ter)	TNNI3	Pathogenic	19	55665424	55665424	G	A	criteria provided, single submitter	ClinGen:CA10581187
single nucleotide variant	NM_001079802.2(FKTN):c.369+1G>T	FKTN	Pathogenic	9	108363630	108363630	G	T	criteria provided, single submitter	ClinGen:CA10581277
single nucleotide variant	NM_170707.4(LMNA):c.254T>A (p.Leu85His)	LMNA	Likely pathogenic	1	156084963	156084963	T	A	criteria provided, single submitter	ClinGen:CA10581727
single nucleotide variant	NM_170707.4(LMNA):c.928C>T (p.Gln310Ter)	LMNA	Pathogenic	1	156105095	156105095	C	T	criteria provided, single submitter	ClinGen:CA10581728
Duplication	NM_001267550.2(TTN):c.100446dup (p.Glu33483fs)	TTN	Pathogenic/Likely pathogenic	2	179401027	179401028	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581827
Duplication	NM_001267550.2(TTN):c.96069dup (p.Val32024fs)	TTN	Likely pathogenic	2	179408801	179408802	C	CA	criteria provided, single submitter	ClinGen:CA10581830
single nucleotide variant	NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)	TTN	Likely pathogenic	2	179421814	179421814	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581835
single nucleotide variant	NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter)	TTN	Likely pathogenic	2	179424184	179424184	C	T	criteria provided, single submitter	ClinGen:CA10581838
single nucleotide variant	NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)	TTN	Pathogenic/Likely pathogenic	2	179434142	179434142	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581841
Insertion	NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)	TTN	Pathogenic	2	179434679	179434680	A	AAGGAGGGCTTGGTTCACTAAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581842