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.(?_68737292)_(68835541_?)del	CDH1	Pathogenic	16	68771195	68869444	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68737292)_(68738411_?)del	CDH1	Pathogenic	16	68771195	68772314	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68737406)_(68738421_?)del	CDH1	Pathogenic	16	68771309	68772324	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	-
single nucleotide variant	NM_004360.5(CDH1):c.1A>G (p.Met1Val)	CDH1	Pathogenic	16	68771319	68771319	A	G	reviewed by expert panel	ClinGen:CA396451176
single nucleotide variant	NM_004360.5(CDH1):c.2T>C (p.Met1Thr)	CDH1	Pathogenic	16	68771320	68771320	T	C	reviewed by expert panel	ClinGen:CA396451185
single nucleotide variant	NM_004360.5(CDH1):c.2T>G (p.Met1Arg)	CDH1	Pathogenic	16	68771320	68771320	T	G	reviewed by expert panel	ClinGen:CA396451182
single nucleotide variant	NM_004360.5(CDH1):c.3G>A (p.Met1Ile)	CDH1	Pathogenic	16	68771321	68771321	G	A	reviewed by expert panel	ClinGen:CA10583399
single nucleotide variant	NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)	CDH1	Pathogenic	16	68771330	68771330	G	A	reviewed by expert panel	-
single nucleotide variant	NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)	CDH1	Pathogenic	16	68771344	68771344	C	A	reviewed by expert panel	-