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
single nucleotide variant	NM_004360.5(CDH1):c.2165-2A>G	CDH1	Likely pathogenic	16	68862075	68862075	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_68821995)_(68823632_?)del	CDH1	Likely pathogenic	16	68855898	68857535	na	na	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.2144del (p.Gly715fs)	CDH1	Pathogenic	16	68857508	68857508	TG	T	reviewed by expert panel	ClinGen:CA658683963
single nucleotide variant	NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter)	CDH1	Pathogenic	16	68857469	68857469	G	T	reviewed by expert panel	ClinGen:CA396467856
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.2095C>T (p.Gln699Ter)	CDH1	Pathogenic	16	68857460	68857460	C	T	reviewed by expert panel	ClinGen:CA280993,OMIM:192090.0007
Deletion	NM_004360.5(CDH1):c.2076_2077del (p.Gly693fs)	CDH1	Pathogenic	16	68857441	68857442	CTG	C	reviewed by expert panel	-
Duplication	NM_004360.5(CDH1):c.2029dup (p.Gln677fs)	CDH1	Pathogenic	16	68857392	68857393	A	AC	reviewed by expert panel	ClinGen:CA658658496
Deletion	NM_004360.5(CDH1):c.1999del (p.Leu667fs)	CDH1	Pathogenic	16	68857364	68857364	TC	T	reviewed by expert panel	ClinGen:CA191461
Deletion	NM_004360.5(CDH1):c.1993del (p.Ile665fs)	CDH1	Pathogenic	16	68857355	68857355	CA	C	reviewed by expert panel	-