特発性拡張型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_170707.4(LMNA):c.1228C>T (p.Gln410Ter)	LMNA	Pathogenic/Likely pathogenic	1	156106075	156106075	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602394
Indel	NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly)	LMNA	Likely pathogenic	1	156085063	156085064	GC	AG	criteria provided, single submitter	ClinGen:CA351885
single nucleotide variant	NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter)	TTN	Likely pathogenic	2	179397332	179397332	G	T	criteria provided, single submitter	ClinGen:CA087871
Deletion	NM_001267550.2(TTN):c.94249del (p.Val31417fs)	TTN	Likely pathogenic	2	179412003	179412003	AC	A	criteria provided, single submitter	ClinGen:CA352002
single nucleotide variant	NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter)	TTN	Likely pathogenic	2	179419765	179419765	C	T	criteria provided, single submitter	ClinGen:CA351972
Deletion	NM_001267550.2(TTN):c.87849del (p.Leu29283fs)	TTN	Likely pathogenic	2	179422140	179422140	AT	A	criteria provided, single submitter	ClinGen:CA351822
Deletion	NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs)	TTN	Likely pathogenic	2	179427069	179427070	CTT	C	criteria provided, single submitter	ClinGen:CA351735
single nucleotide variant	NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)	TTN	Pathogenic/Likely pathogenic	2	179431175	179431175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351848
Deletion	NM_001267550.2(TTN):c.76373del (p.Pro25458fs)	TTN	Pathogenic	2	179434486	179434486	TG	T	criteria provided, single submitter	ClinGen:CA352075
Duplication	NM_001267550.2(TTN):c.75314dup (p.Val25106fs)	TTN	Likely pathogenic	2	179435544	179435545	C	CT	criteria provided, single submitter	ClinGen:CA351993