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.833-8_836del	CDH1	Likely pathogenic	16	68845575	68845586	TGAACTCTTCCAG	T	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68833280)_(68833509_?)del	CDH1	Pathogenic	16	68867183	68867412	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)	CDH1	Pathogenic	16	68771330	68771330	G	A	reviewed by expert panel	-
Deletion	NM_004360.5(CDH1):c.2276del (p.Gly759fs)	CDH1	Pathogenic	16	68862187	68862187	AG	A	reviewed by expert panel	-
Duplication	NM_004360.5(CDH1):c.1733dup (p.Gly579fs)	CDH1	Pathogenic	16	68855924	68855925	A	AC	reviewed by expert panel	-
Deletion	NM_004360.5(CDH1):c.1312del (p.Thr438fs)	CDH1	Pathogenic	16	68847387	68847387	GA	G	reviewed by expert panel	-
Deletion	NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs)	CDH1	Likely pathogenic	16	68863646	68863665	CCCGGTATCTTCCCCGCCCTG	C	reviewed by expert panel	ClinGen:CA658798634
single nucleotide variant	NM_004360.5(CDH1):c.2165-1G>C	CDH1	Likely pathogenic	16	68862076	68862076	G	C	reviewed by expert panel	ClinGen:CA396469209
Deletion	NM_004360.5(CDH1):c.1917_1918del (p.Ile640fs)	CDH1	Pathogenic	16	68856109	68856110	CCA	C	reviewed by expert panel	ClinGen:CA658798631
single nucleotide variant	NM_004360.5(CDH1):c.1A>G (p.Met1Val)	CDH1	Pathogenic	16	68771319	68771319	A	G	reviewed by expert panel	ClinGen:CA396451176