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_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)	TTN	Pathogenic/Likely pathogenic	2	179631234	179631234	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)	ACTC1	Pathogenic/Likely pathogenic	15	35084359	35084359	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592401	38592402	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655809
single nucleotide variant	NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47363688	47363688	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)	FKTN	Pathogenic/Likely pathogenic	9	108370208	108370208	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter)	FKTN	Pathogenic/Likely pathogenic	9	108363620	108363620	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601884	38601888	TGGACG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372736
single nucleotide variant	NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)	TTN	Pathogenic/Likely pathogenic	2	179440145	179440145	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)	TTN	Pathogenic/Likely pathogenic	2	179427755	179427755	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2737+1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47357427	47357427	C	T	criteria provided, multiple submitters, no conflicts	-