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.1703C>G (p.Thr568Arg)	CDH1	Likely pathogenic	16	68853320	68853320	C	G	reviewed by expert panel	ClinGen:CA396465435
single nucleotide variant	NM_004360.5(CDH1):c.531+1G>A	CDH1	Likely pathogenic	16	68842471	68842471	G	A	reviewed by expert panel	ClinGen:CA396457824
Deletion	NM_004360.5(CDH1):c.1565+1del	CDH1	Likely pathogenic	16	68849663	68849663	CG	C	reviewed by expert panel	ClinGen:CA16620249
single nucleotide variant	NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)	CDH1	Likely pathogenic	16	68862107	68862107	G	A	reviewed by expert panel	ClinGen:CA16615410
single nucleotide variant	NM_004360.5(CDH1):c.1008+2T>C	CDH1	Likely pathogenic	16	68845764	68845764	T	C	reviewed by expert panel	ClinGen:CA16615376
single nucleotide variant	NM_004360.5(CDH1):c.532-1G>C	CDH1	Likely pathogenic	16	68842595	68842595	G	C	reviewed by expert panel	ClinGen:CA8129891
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.1711+1G>C	CDH1	Likely pathogenic	16	68853329	68853329	G	C	reviewed by expert panel	ClinGen:CA10603548
single nucleotide variant	NM_004360.5(CDH1):c.1320+1G>C	CDH1	Likely pathogenic	16	68847399	68847399	G	C	reviewed by expert panel	ClinGen:CA10588622,OMIM:192090.0024
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