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.2144del (p.Gly715fs)	CDH1	Pathogenic	16	68857508	68857508	TG	T	reviewed by expert panel	ClinGen:CA658683963
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.457_460del (p.Lys153fs)	CDH1	Pathogenic	16	68842396	68842399	GAAGA	G	reviewed by expert panel	ClinGen:CA658683946
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.656del (p.Pro219fs)	CDH1	Pathogenic	16	68842719	68842719	GC	G	reviewed by expert panel	ClinGen:CA658683948
Duplication	NM_004360.5(CDH1):c.2029dup (p.Gln677fs)	CDH1	Pathogenic	16	68857392	68857393	A	AC	reviewed by expert panel	ClinGen:CA658658496
single nucleotide variant	NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter)	CDH1	Pathogenic	16	68853186	68853186	T	A	reviewed by expert panel	ClinGen:CA396464802
single nucleotide variant	NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter)	CDH1	Pathogenic	16	68867259	68867259	G	T	reviewed by expert panel	ClinGen:CA396472215
Duplication	NM_004360.5(CDH1):c.2474dup (p.Pro826fs)	CDH1	Pathogenic	16	68867223	68867224	G	GC	reviewed by expert panel	ClinGen:CA658658499
Deletion	NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)	CDH1	Pathogenic	16	68857312	68857313	CTA	C	reviewed by expert panel	ClinGen:CA658658495