遺伝性びまん性胃がん

腫瘍性疾患

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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
Deletion	NC_000016.10:g.(?_68801660)_(68801903_?)del	CDH1	Pathogenic	16	68835563	68835806	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_68835567)_(68835802_?)dup	CDH1	Likely pathogenic	16	68835567	68835802	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_68835567)_(68847404_?)dup	CDH1	Likely pathogenic	16	68835567	68847404	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.164-1G>A	CDH1	Likely pathogenic	16	68835572	68835572	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_68801670)_(68801893_?)del	CDH1	Pathogenic	16	68835573	68835796	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)	CDH1	Pathogenic	16	68835596	68835596	C	T	reviewed by expert panel	ClinGen:CA333496
Deletion	NM_004360.5(CDH1):c.202del (p.Tyr68fs)	CDH1	Pathogenic	16	68835611	68835611	CT	C	reviewed by expert panel	ClinGen:CA191858
Duplication	NM_004360.5(CDH1):c.208dup (p.Ser70fs)	CDH1	Pathogenic	16	68835612	68835613	A	AT	reviewed by expert panel	ClinGen:CA645596587
single nucleotide variant	NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)	CDH1	Pathogenic	16	68835629	68835629	C	T	reviewed by expert panel	ClinGen:CA10583404
Deletion	NM_004360.5(CDH1):c.261del (p.Arg87fs)	CDH1	Pathogenic	16	68835669	68835669	AG	A	reviewed by expert panel	ClinGen:CA658658476