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	NM_004360.5(CDH1):c.1711+2_1711+7del	CDH1	Likely pathogenic	16	68853328	68853333	TGGTAAG	T	reviewed by expert panel	ClinGen:CA195350
Deletion	NM_004360.5(CDH1):c.1999del (p.Leu667fs)	CDH1	Pathogenic	16	68857364	68857364	TC	T	reviewed by expert panel	ClinGen:CA191461
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
Deletion	NM_004360.5(CDH1):c.2430del (p.Phe810fs)	CDH1	Pathogenic	16	68863688	68863688	AT	A	reviewed by expert panel	ClinGen:CA197715
Deletion	NM_004360.3(CDH1):c.388-?_*2042+?del	CDH1	Pathogenic	16	68842327	68869444	na	na	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.504del (p.Gly169fs)	CDH1	Pathogenic	16	68842439	68842439	GA	G	reviewed by expert panel	ClinGen:CA348941
Deletion	NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer)	CDH1	Pathogenic	16	68846092	68846092	GT	G	reviewed by expert panel	ClinGen:CA336431
Deletion	NM_004360.5(CDH1):c.1505del (p.Gly502fs)	CDH1	Pathogenic	16	68849600	68849600	TG	T	reviewed by expert panel	ClinGen:CA353528
Deletion	NM_004360.5(CDH1):c.1220del (p.Pro407fs)	CDH1	Pathogenic	16	68847295	68847295	AC	A	criteria provided, single submitter	ClinGen:CA10575997
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