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.48542dup (p.Asn16181fs)	TTN	Likely pathogenic	2	179480129	179480130	A	AT	criteria provided, single submitter	-
Deletion	NM_001927.4(DES):c.226del (p.Thr76fs)	DES	Pathogenic	2	220283410	220283410	GA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001927.4(DES):c.1132_1153del (p.Lys378fs)	DES	Pathogenic	2	220286168	220286189	CTCAAGGATGAGATGGCCCGCCA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.1237G>T (p.Glu413Ter)	DES	Pathogenic	2	220286275	220286275	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)	SCN5A	Pathogenic	3	38645490	38645490	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352147237
single nucleotide variant	NM_002880.4(RAF1):c.779C>A (p.Thr260Lys)	RAF1	Pathogenic/Likely pathogenic	3	12645690	12645690	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer)	SCN5A	Pathogenic	3	38597985	38597985	AG	A	criteria provided, single submitter	ClinGen:CA658796277
single nucleotide variant	NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter)	SCN5A	Pathogenic	3	38607928	38607928	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148956
Deletion	NM_000335.5(SCN5A):c.3259del (p.Ala1087fs)	SCN5A	Pathogenic	3	38620953	38620953	GC	G	criteria provided, single submitter	ClinGen:CA658796280
single nucleotide variant	NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)	SDHA	Pathogenic	5	218475	218475	C	A	criteria provided, single submitter	-