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_000335.5(SCN5A):c.3509-1G>C	SCN5A	Likely pathogenic	3	38616943	38616943	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352138303
single nucleotide variant	NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter)	SCN5A	Pathogenic	3	38627503	38627503	C	T	criteria provided, single submitter	ClinGen:CA352142670
single nucleotide variant	NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val)	PSEN1	Likely pathogenic	14	73685863	73685863	C	G	criteria provided, single submitter	-
Duplication	NM_133379.5(TTN):c.14304dup (p.Ala4769fs)	TTN	Likely pathogenic	2	179612822	179612823	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.704-2A>G	SCN5A	Likely pathogenic	3	38651457	38651457	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352151086
single nucleotide variant	NM_004006.3(DMD):c.9974+175T>A	DMD	Pathogenic	X	31200680	31200680	A	T	criteria provided, single submitter	-
Duplication	NM_170707.4(LMNA):c.11dup (p.Ser5fs)	LMNA	Pathogenic	1	156084716	156084717	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)	LMNA	Pathogenic	1	156084803	156084803	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.116A>T (p.Asn39Ile)	LMNA	Likely pathogenic	1	156084825	156084825	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)	LMNA	Pathogenic/Likely pathogenic	1	156084852	156084852	G	C	criteria provided, multiple submitters, no conflicts	-