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.2311C>T (p.Gln771Ter)	CDH1	Pathogenic	16	68863572	68863572	C	T	reviewed by expert panel	ClinGen:CA396470822
single nucleotide variant	NM_004360.5(CDH1):c.2296-1G>A	CDH1	Likely pathogenic	16	68863556	68863556	G	A	reviewed by expert panel	ClinGen:CA16042157
single nucleotide variant	NM_004360.5(CDH1):c.2296-2A>G	CDH1	Likely pathogenic	16	68863555	68863555	A	G	reviewed by expert panel	ClinGen:CA10580157
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	-
single nucleotide variant	NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter)	CDH1	Pathogenic	16	68862205	68862205	C	T	reviewed by expert panel	ClinGen:CA10580156
single nucleotide variant	NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)	CDH1	Pathogenic	16	68862199	68862199	G	T	reviewed by expert panel	ClinGen:CA332835
Deletion	NM_004360.5(CDH1):c.2276del (p.Gly759fs)	CDH1	Pathogenic	16	68862187	68862187	AG	A	reviewed by expert panel	-
single nucleotide variant	NM_004360.5(CDH1):c.2272G>T (p.Glu758Ter)	CDH1	Pathogenic	16	68862184	68862184	G	T	reviewed by expert panel	ClinGen:CA396470014
single nucleotide variant	NM_004360.5(CDH1):c.2272G>A (p.Glu758Lys)	CDH1	Likely pathogenic	16	68862184	68862184	G	A	criteria provided, single submitter	ClinGen:CA194182
single nucleotide variant	NM_004360.5(CDH1):c.2265T>A (p.Tyr755Ter)	CDH1	Pathogenic	16	68862177	68862177	T	A	reviewed by expert panel	-