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.2276del (p.Gly759fs)	CDH1	Pathogenic	16	68862187	68862187	AG	A	reviewed by expert panel	-
Duplication	NM_004360.5(CDH1):c.1733dup (p.Gly579fs)	CDH1	Pathogenic	16	68855924	68855925	A	AC	reviewed by expert panel	-
Deletion	NM_004360.5(CDH1):c.1312del (p.Thr438fs)	CDH1	Pathogenic	16	68847387	68847387	GA	G	reviewed by expert panel	-
Deletion	NM_004360.5(CDH1):c.1917_1918del (p.Ile640fs)	CDH1	Pathogenic	16	68856109	68856110	CCA	C	reviewed by expert panel	ClinGen:CA658798631
single nucleotide variant	NM_004360.5(CDH1):c.1A>G (p.Met1Val)	CDH1	Pathogenic	16	68771319	68771319	A	G	reviewed by expert panel	ClinGen:CA396451176
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.1051C>T (p.Gln351Ter)	CDH1	Pathogenic	16	68846080	68846080	C	T	reviewed by expert panel	ClinGen:CA396460000
single nucleotide variant	NM_004360.5(CDH1):c.2T>G (p.Met1Arg)	CDH1	Pathogenic	16	68771320	68771320	T	G	reviewed by expert panel	ClinGen:CA396451182
Deletion	NC_000016.10:g.(?_68828168)_(68829803_?)del	CDH1	Pathogenic	16	68862071	68863706	na	na	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.2100del (p.Val701fs)	CDH1	Pathogenic	16	68857465	68857465	CT	C	reviewed by expert panel	ClinGen:CA658683961