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
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.220C>T (p.Arg74Ter)	CDH1	Pathogenic	16	68835629	68835629	C	T	reviewed by expert panel	ClinGen:CA10583404
Deletion	NM_004360.5(CDH1):c.261del (p.Arg87fs)	CDH1	Pathogenic	16	68835669	68835669	AG	A	reviewed by expert panel	ClinGen:CA658658476
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.308G>A (p.Trp103Ter)	CDH1	Pathogenic	16	68835717	68835717	G	A	reviewed by expert panel	ClinGen:CA396457352
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.337A>T (p.Lys113Ter)	CDH1	Pathogenic	16	68835746	68835746	A	T	reviewed by expert panel	ClinGen:CA10577535
Duplication	NM_004360.5(CDH1):c.360dup (p.His121fs)	CDH1	Pathogenic	16	68835765	68835766	T	TG	reviewed by expert panel	ClinGen:CA10583408
Deletion	NM_004360.5(CDH1):c.377del (p.Pro126fs)	CDH1	Pathogenic	16	68835781	68835781	GC	G	reviewed by expert panel	ClinGen:CA16614939
Deletion	NM_004360.5(CDH1):c.382del (p.His128fs)	CDH1	Pathogenic	16	68835788	68835788	GC	G	reviewed by expert panel	ClinGen:CA496152715