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
Duplication	NM_001267550.2(TTN):c.57035dup (p.Leu19013fs)	TTN	Likely pathogenic	2	179463308	179463309	T	TG	criteria provided, single submitter	ClinGen:CA658796048
Deletion	NM_001267550.2(TTN):c.51525del (p.Ser17177fs)	TTN	Pathogenic/Likely pathogenic	2	179474625	179474625	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795993
Deletion	NM_001267550.2(TTN):c.51648del (p.Glu17217fs)	TTN	Likely pathogenic	2	179474502	179474502	CT	C	criteria provided, single submitter	ClinGen:CA658795992
Deletion	NM_001267550.2(TTN):c.65758_65759del (p.Thr21920fs)	TTN	Likely pathogenic	2	179447771	179447772	GGT	G	criteria provided, single submitter	ClinGen:CA658796012
single nucleotide variant	NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter)	TTN	Likely pathogenic	2	179452879	179452879	C	T	criteria provided, single submitter	ClinGen:CA349454778
Indel	NM_001267550.2(TTN):c.48227_48229delinsAAA (p.Trp16076_Glu16077delinsTer)	TTN	Likely pathogenic	2	179481289	179481291	CCC	TTT	criteria provided, single submitter	ClinGen:CA658796074
single nucleotide variant	NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter)	TTN	Likely pathogenic	2	179462421	179462421	C	A	criteria provided, single submitter	ClinGen:CA349521015
single nucleotide variant	NM_001267550.2(TTN):c.48461-2A>C	TTN	Likely pathogenic	2	179480213	179480213	T	G	criteria provided, single submitter	ClinGen:CA349609475
Deletion	NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs)	SCN5A	Pathogenic/Likely pathogenic	3	38646307	38646310	TCTTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014854
single nucleotide variant	NM_000335.5(SCN5A):c.1167C>A (p.Tyr389Ter)	SCN5A	Pathogenic	3	38647613	38647613	G	T	criteria provided, single submitter	ClinGen:CA014445