遺伝性びまん性胃がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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.2195G>A (p.Arg732Gln)	CDH1	Likely pathogenic	16	68862107	68862107	G	A	reviewed by expert panel	ClinGen:CA16615410
Deletion	NM_004360.5(CDH1):c.2324del (p.Gly775fs)	CDH1	Pathogenic	16	68863582	68863582	AG	A	reviewed by expert panel	ClinGen:CA16615415
Deletion	NM_004360.5(CDH1):c.315del (p.Thr106fs)	CDH1	Pathogenic	16	68835723	68835723	TC	T	reviewed by expert panel	ClinGen:CA16620235
single nucleotide variant	NM_004360.5(CDH1):c.489C>A (p.Cys163Ter)	CDH1	Pathogenic	16	68842428	68842428	C	A	reviewed by expert panel	ClinGen:CA16620236
Deletion	NM_004360.5(CDH1):c.1565+1del	CDH1	Likely pathogenic	16	68849663	68849663	CG	C	reviewed by expert panel	ClinGen:CA16620249
Duplication	NM_004360.5(CDH1):c.1587dup (p.Ala530fs)	CDH1	Pathogenic	16	68853203	68853204	C	CT	reviewed by expert panel	ClinGen:CA16620251
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.603del (p.Val202fs)	CDH1	Pathogenic	16	68842667	68842667	CT	C	reviewed by expert panel	ClinGen:CA645369675
Deletion	NM_004360.5(CDH1):c.720del (p.Asn240fs)	CDH1	Pathogenic	16	68844132	68844132	AT	A	reviewed by expert panel	ClinGen:CA645369679