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.74608del (p.Ala24870fs)	TTN	Pathogenic/Likely pathogenic	2	179436251	179436251	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581845
single nucleotide variant	NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)	TTN	Likely pathogenic	2	179441418	179441418	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581850
single nucleotide variant	NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)	TTN	Pathogenic/Likely pathogenic	2	179454531	179454531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581854
single nucleotide variant	NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter)	TTN	Likely pathogenic	2	179463336	179463336	G	T	criteria provided, single submitter	ClinGen:CA10581861
single nucleotide variant	NM_001927.4(DES):c.1013T>C (p.Leu338Pro)	DES	Likely pathogenic	2	220285665	220285665	T	C	criteria provided, single submitter	ClinGen:CA10581950
single nucleotide variant	NM_004168.4(SDHA):c.1A>G (p.Met1Val)	SDHA	Pathogenic/Likely pathogenic	5	218471	218471	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172674
Deletion	NM_004168.4(SDHA):c.457-2_457del	SDHA	Pathogenic	5	225995	225997	ACAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582418
single nucleotide variant	NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)	SDHA	Pathogenic	5	233750	233750	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582426
Deletion	NM_004168.4(SDHA):c.1432_1432+1del	SDHA	Pathogenic/Likely pathogenic	5	236714	236715	TGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582429
single nucleotide variant	NM_004168.4(SDHA):c.1432+1G>C	SDHA	Likely pathogenic	5	236715	236715	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582430