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_001267550.2(TTN):c.96909dup (p.Pro32304fs)	TTN	Likely pathogenic	2	179407671	179407672	G	GC	criteria provided, single submitter	ClinGen:CA658795967
single nucleotide variant	NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter)	TTN	Likely pathogenic	2	179436221	179436221	G	A	criteria provided, single submitter	ClinGen:CA349632580
single nucleotide variant	NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter)	TTN	Likely pathogenic	2	179411847	179411847	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349474274
single nucleotide variant	NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter)	TTN	Likely pathogenic	2	179443860	179443860	C	A	criteria provided, single submitter	ClinGen:CA349422569
Indel	NM_001267550.2(TTN):c.73324_73328delinsC (p.Ala24442fs)	TTN	Likely pathogenic	2	179437531	179437535	CAGGC	G	criteria provided, single submitter	ClinGen:CA658796035
single nucleotide variant	NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter)	TTN	Likely pathogenic	2	179428509	179428509	A	C	criteria provided, single submitter	ClinGen:CA349573976
single nucleotide variant	NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)	TTN	Likely pathogenic	2	179456145	179456145	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349485552
Deletion	NM_001267550.2(TTN):c.56741del (p.Ser18914fs)	TTN	Likely pathogenic	2	179463696	179463696	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796055
single nucleotide variant	NM_001267550.2(TTN):c.58874G>A (p.Trp19625Ter)	TTN	Likely pathogenic	2	179458061	179458061	C	T	criteria provided, single submitter	ClinGen:CA349501161
Duplication	NM_001267550.2(TTN):c.48369dup (p.Glu16124fs)	TTN	Likely pathogenic	2	179480458	179480459	C	CT	criteria provided, single submitter	ClinGen:CA658796073