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.22973C>G (p.Ser7658Ter)	TTN	Likely pathogenic	2	179585773	179585773	G	C	criteria provided, single submitter	ClinGen:CA349517599
single nucleotide variant	NM_004006.3(DMD):c.2292+2T>G	DMD	Likely pathogenic	X	32536123	32536123	A	C	criteria provided, single submitter	ClinGen:CA412663580
Deletion	NM_000335.5(SCN5A):c.1936del (p.Gln646fs)	SCN5A	Pathogenic	3	38640496	38640496	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015579
Deletion	NM_000335.5(SCN5A):c.255del (p.Phe86fs)	SCN5A	Pathogenic/Likely pathogenic	3	38674544	38674544	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016281
single nucleotide variant	NM_002880.4(RAF1):c.788T>A (p.Val263Asp)	RAF1	Pathogenic/Likely pathogenic	3	12645681	12645681	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351512308
Deletion	NM_000335.5(SCN5A):c.3992del (p.Pro1331fs)	SCN5A	Pathogenic	3	38601888	38601888	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017726
single nucleotide variant	NM_001079802.2(FKTN):c.648-1243G>T	FKTN	Pathogenic/Likely pathogenic	9	108368857	108368857	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683548
Deletion	NM_004006.3(DMD):c.2804-1del	DMD	Pathogenic	X	32490427	32490427	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684291
single nucleotide variant	NM_004006.3(DMD):c.2950-2A>T	DMD	Pathogenic	X	32486829	32486829	T	A	criteria provided, single submitter	ClinGen:CA412667201
Deletion	NM_170707.4(LMNA):c.1142_1157+1del	LMNA	Pathogenic/Likely pathogenic	1	156105895	156105911	TGGAGGGCGAGGAGGAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795534