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_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47370036	47370036	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38601736	38601736	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352146716
single nucleotide variant	NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)	TTN	Pathogenic/Likely pathogenic	2	179518019	179518019	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.106531+1G>A	TTN	Pathogenic/Likely pathogenic	2	179394686	179394686	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000021.4(PSEN1):c.869-1G>A	PSEN1	Pathogenic/Likely pathogenic	14	73673093	73673093	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38640511	38640511	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617953
single nucleotide variant	NM_004006.3(DMD):c.10087-2A>G	DMD	Pathogenic/Likely pathogenic	X	31196924	31196924	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.369+1G>C	FKTN	Pathogenic/Likely pathogenic	9	108363630	108363630	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.911-1G>A	FKTN	Pathogenic/Likely pathogenic	9	108380239	108380239	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)	TTN	Pathogenic/Likely pathogenic	2	179395919	179395919	G	C	criteria provided, multiple submitters, no conflicts	-