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.4909C>T (p.Arg1637Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38592951	38592951	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063937
Duplication	NC_000003.11:g.(?_38616768)_(38651475_?)dup	SCN5A	Likely pathogenic	3	38616768	38651475	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38550301)_(38794030_?)del	SCN5A	Pathogenic	3	38591792	38835521	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter)	SCN5A	Pathogenic	3	38597218	38597218	G	A	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38585671)_(38604928_?)del	SCN5A	Likely pathogenic	3	38627162	38646419	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter)	SCN5A	Likely pathogenic	3	38592264	38592264	C	A	criteria provided, single submitter	-
Deletion	NM_001079802.2(FKTN):c.432del (p.Arg146fs)	FKTN	Pathogenic	9	108366558	108366558	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter)	FKTN	Pathogenic	9	108377646	108377646	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)	FKTN	Pathogenic	9	108382323	108382323	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_004281.4(BAG3):c.514C>T (p.Gln172Ter)	BAG3	Pathogenic	10	121431773	121431773	C	T	criteria provided, single submitter	-