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.656del (p.Pro219fs)	CDH1	Pathogenic	16	68842719	68842719	GC	G	reviewed by expert panel	ClinGen:CA658683948
Deletion	NM_004360.5(CDH1):c.455_465del (p.Gln152fs)	CDH1	Pathogenic	16	68842390	68842400	AAGACAGAAGAG	A	reviewed by expert panel	ClinGen:CA658683945
Deletion	NM_004360.5(CDH1):c.457_460del (p.Lys153fs)	CDH1	Pathogenic	16	68842396	68842399	GAAGA	G	reviewed by expert panel	ClinGen:CA658683946
Deletion	NM_004360.5(CDH1):c.1443del (p.Asn481fs)	CDH1	Pathogenic	16	68849540	68849540	AT	A	reviewed by expert panel	ClinGen:CA658683954
Deletion	NM_004360.5(CDH1):c.2144del (p.Gly715fs)	CDH1	Pathogenic	16	68857508	68857508	TG	T	reviewed by expert panel	ClinGen:CA658683963
Deletion	NM_004360.5(CDH1):c.1145del (p.Gly382fs)	CDH1	Pathogenic/Likely pathogenic	16	68847221	68847221	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683953
Deletion	NM_004360.5(CDH1):c.2100del (p.Val701fs)	CDH1	Pathogenic	16	68857465	68857465	CT	C	reviewed by expert panel	ClinGen:CA658683961
single nucleotide variant	NM_004360.5(CDH1):c.2440-2A>G	CDH1	Likely pathogenic	16	68867191	68867191	A	G	reviewed by expert panel	ClinGen:CA396471928
single nucleotide variant	NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)	CDH1	Likely pathogenic	16	68867199	68867199	A	T	reviewed by expert panel	ClinGen:CA396471960
Deletion	NC_000016.10:g.(?_68828168)_(68829803_?)del	CDH1	Pathogenic	16	68862071	68863706	na	na	criteria provided, single submitter	-