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_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)	FKTN	Pathogenic/Likely pathogenic	9	108337355	108337355	CG	C	criteria provided, multiple submitters, no conflicts	OMIM:607440.0019
single nucleotide variant	NM_001079802.2(FKTN):c.1173-1G>A	FKTN	Likely pathogenic	9	108397331	108397331	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)	LMNA	Pathogenic/Likely pathogenic	1	156105871	156105871	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	Single allele	DMD	Pathogenic	X	31697480	31766673	na	na	criteria provided, single submitter	-
Duplication	Single allele	DMD	Pathogenic	X	31947471	31972601	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys)	RBM20	Pathogenic/Likely pathogenic	10	112581091	112581091	T	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000335.5(SCN5A):c.3142_3154delinsTCTGACTGTGT (p.Pro1048fs)	SCN5A	Pathogenic	3	38622496	38622508	CCACAGCGATGGG	ACACAGTCAGA	criteria provided, single submitter	ClinGen:CA10582194
Deletion	NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592506	38592507	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586350
single nucleotide variant	NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)	SCN5A	Pathogenic/Likely pathogenic	3	38595864	38595864	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063563
single nucleotide variant	NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter)	SCN5A	Pathogenic	3	38592978	38592978	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063905