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.(?_68821995)_(68823632_?)del	CDH1	Likely pathogenic	16	68855898	68857535	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68833284)_(68833505_?)del	CDH1	Pathogenic	16	68867187	68867408	na	na	criteria provided, single submitter	-
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.283C>T (p.Gln95Ter)	CDH1	Pathogenic	16	68835692	68835692	C	T	reviewed by expert panel	ClinGen:CA8129823
single nucleotide variant	NM_004360.5(CDH1):c.832+1G>A	CDH1	Likely pathogenic	16	68844245	68844245	G	A	reviewed by expert panel	ClinGen:CA396459027
Deletion	NM_004360.5(CDH1):c.261del (p.Arg87fs)	CDH1	Pathogenic	16	68835669	68835669	AG	A	reviewed by expert panel	ClinGen:CA658658476
Insertion	NM_004360.5(CDH1):c.1565+2_1565+3insTT	CDH1	Pathogenic/Likely pathogenic	16	68849663	68849664	G	GTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658490
single nucleotide variant	NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)	CDH1	Pathogenic	16	68857307	68857307	G	T	reviewed by expert panel	ClinGen:CA396467508
single nucleotide variant	NM_004360.5(CDH1):c.467G>A (p.Trp156Ter)	CDH1	Pathogenic	16	68842406	68842406	G	A	reviewed by expert panel	ClinGen:CA396457680
single nucleotide variant	NM_004360.5(CDH1):c.687+2T>C	CDH1	Likely pathogenic	16	68842753	68842753	T	C	reviewed by expert panel	ClinGen:CA396458165