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_004006.3(DMD):c.4060del (p.Leu1354fs)	DMD	Pathogenic	X	32456369	32456369	AG	A	criteria provided, single submitter	ClinGen:CA645509388
single nucleotide variant	NM_004006.3(DMD):c.8197G>T (p.Glu2733Ter)	DMD	Pathogenic	X	31645810	31645810	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412657091
single nucleotide variant	NM_001943.5(DSG2):c.1652-1G>A	DSG2	Likely pathogenic	18	29118713	29118713	G	A	criteria provided, single submitter	ClinGen:CA402136740
single nucleotide variant	NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)	SCN5A	Pathogenic/Likely pathogenic	3	38648234	38648234	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014277,UniProtKB:Q14524#VAR_026352
Insertion	NM_001267550.2(TTN):c.94179_94180insAG (p.Pro31394fs)	TTN	Likely pathogenic	2	179412173	179412174	G	GCT	criteria provided, single submitter	ClinGen:CA658653757
Insertion	NM_001267550.2(TTN):c.94178_94179insTCTAG (p.Lys31393fs)	TTN	Likely pathogenic	2	179412174	179412175	T	TCTAGA	criteria provided, single submitter	ClinGen:CA658653758
single nucleotide variant	NM_000256.3(MYBPC3):c.654+1G>A	MYBPC3	Pathogenic	11	47371324	47371324	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221706500
single nucleotide variant	NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)	SCN5A	Pathogenic/Likely pathogenic	3	38648201	38648201	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014305,UniProtKB:Q14524#VAR_026353
single nucleotide variant	NM_170707.4(LMNA):c.234G>T (p.Lys78Asn)	LMNA	Likely pathogenic	1	156084943	156084943	G	T	criteria provided, single submitter	ClinGen:CA342808375
Deletion	NM_001267550.2(TTN):c.94371del (p.Glu31458fs)	TTN	Likely pathogenic	2	179411881	179411881	CT	C	criteria provided, single submitter	ClinGen:CA658657134