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_001276345.2(TNNT2):c.274G>A (p.Gly92Arg)	TNNT2	Pathogenic/Likely pathogenic	1	201334758	201334758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004195
single nucleotide variant	NM_001276345.2(TNNT2):c.851+1G>T	TNNT2	Pathogenic/Likely pathogenic	1	201328750	201328750	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005210
single nucleotide variant	NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)	TNNT2	Pathogenic/Likely pathogenic	1	201332458	201332458	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004746,UniProtKB:P45379#VAR_016199
single nucleotide variant	NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)	TNNT2	Pathogenic/Likely pathogenic	1	201334370	201334370	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004389
single nucleotide variant	NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)	TNNT2	Pathogenic/Likely pathogenic	1	201334420	201334420	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004288
Deletion	NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs)	TTN	Likely pathogenic	2	179401806	179401810	GAAGAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273248
Deletion	NM_001267550.2(TTN):c.98994del (p.Lys32998fs)	TTN	Pathogenic/Likely pathogenic	2	179403562	179403562	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273567
single nucleotide variant	NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)	TTN	Likely pathogenic	2	179404264	179404264	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273569
single nucleotide variant	NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)	TTN	Likely pathogenic	2	179404658	179404658	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273595
Duplication	NM_001256850.1(TTN):c.86916dup (p.Val28973fs)	TTN	Pathogenic/Likely pathogenic	2	179414725	179414726	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA273643