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
single nucleotide variant	NM_004360.5(CDH1):c.833-2A>G	CDH1	Pathogenic	16	68845585	68845585	A	G	reviewed by expert panel	ClinGen:CA396459533
Deletion	NM_004360.5(CDH1):c.1341del (p.Lys447fs)	CDH1	Pathogenic	16	68849438	68849438	AG	A	reviewed by expert panel	ClinGen:CA645509535
single nucleotide variant	NM_173842.3(IL1RN):c.62C>G (p.Ser21Ter)	IL1RN	Likely pathogenic	2	113885263	113885263	C	G	criteria provided, single submitter	ClinGen:CA53692982
single nucleotide variant	NM_004360.5(CDH1):c.48+1G>A	CDH1	Pathogenic	16	68771367	68771367	G	A	reviewed by expert panel	ClinGen:CA396451431
Duplication	NM_004360.5(CDH1):c.1031_1032dup (p.Val345fs)	CDH1	Pathogenic	16	68846058	68846059	G	GGT	reviewed by expert panel	ClinGen:CA658658485
Duplication	NM_004360.5(CDH1):c.1590dup (p.Asn531fs)	CDH1	Pathogenic	16	68853205	68853206	G	GC	reviewed by expert panel	ClinGen:CA658658491,OMIM:192090.0014
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	-
Deletion	NC_000016.9:g.(?_68842321)_(68867407_?)del	CDH1	Pathogenic	16	68842321	68867407	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_68853177)_(68863706_?)dup	CDH1	Likely pathogenic	16	68853177	68863706	na	na	criteria provided, single submitter	-