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.940A>T (p.Lys314Ter)	CDH1	Pathogenic	16	68845694	68845694	A	T	reviewed by expert panel	ClinGen:CA396459763
Deletion	NM_004360.5(CDH1):c.1131del (p.Thr378fs)	CDH1	Pathogenic	16	68846158	68846158	TC	T	reviewed by expert panel	ClinGen:CA645369682
Deletion	NM_004360.5(CDH1):c.1408del (p.Thr470fs)	CDH1	Pathogenic	16	68849505	68849505	CA	C	reviewed by expert panel	ClinGen:CA645369638
single nucleotide variant	NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter)	CDH1	Pathogenic	16	68849628	68849628	C	T	reviewed by expert panel	ClinGen:CA396463469
single nucleotide variant	NM_004360.5(CDH1):c.1703C>G (p.Thr568Arg)	CDH1	Likely pathogenic	16	68853320	68853320	C	G	reviewed by expert panel	ClinGen:CA396465435
single nucleotide variant	NM_004360.5(CDH1):c.1711+1G>A	CDH1	Likely pathogenic	16	68853329	68853329	G	A	reviewed by expert panel	ClinGen:CA396465476
Duplication	NM_004360.5(CDH1):c.1746dup (p.Leu583fs)	CDH1	Pathogenic	16	68855937	68855938	T	TG	reviewed by expert panel	ClinGen:CA645369677
single nucleotide variant	NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter)	CDH1	Pathogenic	16	68863572	68863572	C	T	reviewed by expert panel	ClinGen:CA396470822
Duplication	NM_004360.5(CDH1):c.2490dup (p.Leu831fs)	CDH1	Likely pathogenic	16	68867242	68867243	T	TG	reviewed by expert panel	ClinGen:CA645369680
Deletion	NM_004360.5(CDH1):c.1612del (p.Asp538fs)	CDH1	Pathogenic	16	68853228	68853228	CG	C	reviewed by expert panel	ClinGen:CA645509536