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_000021.4(PSEN1):c.1297C>T (p.Pro433Ser)	PSEN1	Likely pathogenic	14	73685890	73685890	C	T	criteria provided, single submitter	-
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	-
Duplication	NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)	TTN	Likely pathogenic	2	179414948	179414949	C	CTT	criteria provided, single submitter	-
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.22480T>C (p.Ser7494Pro)	TTN	Likely pathogenic	2	179587034	179587034	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_002880.4(RAF1):c.769T>A (p.Ser257Thr)	RAF1	Likely pathogenic	3	12645700	12645700	A	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_004006.3(DMD):c.9634G>T (p.Glu3212Ter)	DMD	Pathogenic	X	31224714	31224714	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.9180del (p.Trp3061fs)	DMD	Pathogenic	X	31341759	31341759	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.8524C>T (p.Gln2842Ter)	DMD	Pathogenic	X	31514928	31514928	G	A	criteria provided, single submitter	-