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_004006.3(DMD):c.511G>C (p.Ala171Pro)	DMD	Likely pathogenic	X	32834604	32834604	C	G	criteria provided, single submitter	ClinGen:CA16608905
single nucleotide variant	NM_004006.3(DMD):c.4222C>T (p.Gln1408Ter)	DMD	Likely pathogenic	X	32429880	32429880	G	A	criteria provided, single submitter	ClinGen:CA16609178
Deletion	NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs)	MYBPC3	Pathogenic	11	47354750	47354751	GTC	G	criteria provided, single submitter	ClinGen:CA16609416
single nucleotide variant	NM_170707.4(LMNA):c.122G>A (p.Arg41His)	LMNA	Pathogenic	1	156084831	156084831	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609885
single nucleotide variant	NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)	LMNA	Likely pathogenic	1	156105873	156105873	T	G	criteria provided, single submitter	ClinGen:CA16609888
single nucleotide variant	NM_170707.4(LMNA):c.988G>T (p.Glu330Ter)	LMNA	Pathogenic	1	156105743	156105743	G	T	criteria provided, single submitter	ClinGen:CA16609891
Indel	NM_001267550.2(TTN):c.102796_102798delinsTATA (p.Asn34266fs)	TTN	Likely pathogenic	2	179398544	179398546	ATT	TATA	criteria provided, single submitter	ClinGen:CA16610191
single nucleotide variant	NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter)	TTN	Likely pathogenic	2	179397968	179397968	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610211
single nucleotide variant	NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter)	TTN	Likely pathogenic	2	179399281	179399281	G	A	criteria provided, single submitter	ClinGen:CA16610212
single nucleotide variant	NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter)	TTN	Likely pathogenic	2	179409151	179409151	G	T	criteria provided, single submitter	ClinGen:CA16610217