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_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter)	MYBPC3	Pathogenic	11	47359091	47359091	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47363688	47363688	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter)	SCN5A	Pathogenic	3	38663905	38663905	C	T	criteria provided, single submitter	ClinGen:CA352154551
single nucleotide variant	NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter)	DMD	Pathogenic	X	32382771	32382771	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.4546A>T (p.Lys1516Ter)	DMD	Pathogenic	X	32404555	32404555	T	A	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592401	38592402	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655809
single nucleotide variant	NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter)	EYA4	Likely pathogenic	6	133834022	133834022	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2635G>T (p.Glu879Ter)	MYBPC3	Likely pathogenic	11	47357530	47357530	C	A	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0	DMD	Likely pathogenic	X	31815807	31875058	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)	TTN	Likely pathogenic	2	179400235	179400235	G	A	criteria provided, multiple submitters, no conflicts	-