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	NM_004360.5(CDH1):c.2474del (p.Pro825fs)	CDH1	Pathogenic	16	68867224	68867224	GC	G	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68737406)_(68833509_?)del	CDH1	Pathogenic	16	68771309	68867412	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68828164)_(68833509_?)del	CDH1	Pathogenic	16	68862067	68867412	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_68835563)_(68835806_?)dup	CDH1	Likely pathogenic	16	68835563	68835806	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68810187)_(68813505_?)del	CDH1	Likely pathogenic	16	68844090	68847408	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68815505)_(68815769_?)del	CDH1	Pathogenic	16	68849408	68849672	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	-
single nucleotide variant	NM_004360.5(CDH1):c.2295+1G>C	CDH1	Likely pathogenic	16	68862208	68862208	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_68801660)_(68801903_?)del	CDH1	Pathogenic	16	68835563	68835806	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.2165-2A>G	CDH1	Likely pathogenic	16	68862075	68862075	A	G	criteria provided, multiple submitters, no conflicts	-