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
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.(?_68828164)_(68833509_?)del	CDH1	Pathogenic	16	68862067	68867412	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68737406)_(68833509_?)del	CDH1	Pathogenic	16	68771309	68867412	na	na	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.2474del (p.Pro825fs)	CDH1	Pathogenic	16	68867224	68867224	GC	G	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.2444del (p.Leu815fs)	CDH1	Likely pathogenic	16	68867197	68867197	CT	C	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.1982del (p.Gly661fs)	CDH1	Pathogenic	16	68857345	68857345	TG	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004360.5(CDH1):c.1893dup (p.His632fs)	CDH1	Pathogenic	16	68856084	68856085	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004360.5(CDH1):c.1605del (p.Asn536fs)	CDH1	Pathogenic	16	68853221	68853221	AT	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_004360.5(CDH1):c.1397_1409delinsAAA (p.Leu466fs)	CDH1	Pathogenic	16	68849494	68849506	TCACCACCTCCAC	AAA	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.1212del (p.Asn405fs)	CDH1	Pathogenic	16	68847286	68847286	GC	G	criteria provided, multiple submitters, no conflicts	-