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
Indel	NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs)	LMNA	Likely pathogenic	1	156084873	156084877	AGAAC	TCT	criteria provided, single submitter	ClinGen:CA16616999
Deletion	NM_170707.4(LMNA):c.835del (p.Glu279fs)	LMNA	Pathogenic	1	156105002	156105002	TG	T	criteria provided, single submitter	ClinGen:CA16617000
single nucleotide variant	NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter)	LMNA	Pathogenic	1	156105833	156105833	C	T	criteria provided, single submitter	ClinGen:CA16617001
Deletion	NM_170707.4(LMNA):c.1629_1636del (p.Val544fs)	LMNA	Pathogenic	1	156107462	156107469	AGCTGGTGC	A	criteria provided, single submitter	ClinGen:CA16617002
single nucleotide variant	NM_001267550.2(TTN):c.107377+5G>A	TTN	Likely pathogenic	2	179392996	179392996	C	T	criteria provided, single submitter	ClinGen:CA1984962
single nucleotide variant	NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	TTN	Pathogenic/Likely pathogenic	2	179400887	179400887	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617330
single nucleotide variant	NM_001267550.2(TTN):c.99502G>T (p.Glu33168Ter)	TTN	Likely pathogenic	2	179402432	179402432	C	A	criteria provided, single submitter	ClinGen:CA16617331
Duplication	NM_001267550.2(TTN):c.97114dup (p.Arg32372fs)	TTN	Likely pathogenic	2	179407466	179407467	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617332
Deletion	NM_001267550.2(TTN):c.95549del (p.Lys31850fs)	TTN	Likely pathogenic	2	179410288	179410288	CT	C	criteria provided, single submitter	ClinGen:CA16617333
Duplication	NM_001267550.2(TTN):c.95469dup (p.Ile31824fs)	TTN	Likely pathogenic	2	179410367	179410368	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617334