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.1147C>T (p.Gln383Ter)	CDH1	Pathogenic	16	68847225	68847225	C	T	reviewed by expert panel	ClinGen:CA169687
single nucleotide variant	NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)	CDH1	Pathogenic	16	68856113	68856113	C	T	reviewed by expert panel	ClinGen:CA169506
single nucleotide variant	NM_004360.5(CDH1):c.1565+1G>T	CDH1	Pathogenic	16	68849663	68849663	G	T	reviewed by expert panel	ClinGen:CA164768
Duplication	NM_004360.5(CDH1):c.521dup (p.Asn174fs)	CDH1	Pathogenic	16	68842455	68842456	T	TA	reviewed by expert panel	ClinGen:CA163603,OMIM:192090.0021
single nucleotide variant	NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)	CDH1	Pathogenic	16	68862199	68862199	G	T	reviewed by expert panel	ClinGen:CA332835
single nucleotide variant	NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)	CDH1	Pathogenic	16	68845757	68845757	C	T	reviewed by expert panel	ClinGen:CA166866
single nucleotide variant	NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)	CDH1	Pathogenic	16	68844127	68844127	G	A	reviewed by expert panel	ClinGen:CA298980
single nucleotide variant	NM_004360.5(CDH1):c.1565+1G>A	CDH1	Pathogenic	16	68849663	68849663	G	A	reviewed by expert panel	ClinGen:CA288040
single nucleotide variant	NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp)	CDH1	Likely pathogenic	16	68845762	68845762	G	T	reviewed by expert panel	ClinGen:CA280990,UniProtKB:P12830#VAR_001310,OMIM:192090.0005
single nucleotide variant	NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)	CDH1	Pathogenic/Likely pathogenic	16	68856093	68856093	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA281003,UniProtKB:P12830#VAR_055431,OMIM:192090.0015