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.2440-2A>G	CDH1	Likely pathogenic	16	68867191	68867191	A	G	reviewed by expert panel	ClinGen:CA396471928
single nucleotide variant	NM_004360.5(CDH1):c.687+2T>C	CDH1	Likely pathogenic	16	68842753	68842753	T	C	reviewed by expert panel	ClinGen:CA396458165
single nucleotide variant	NM_004360.5(CDH1):c.832+1G>A	CDH1	Likely pathogenic	16	68844245	68844245	G	A	reviewed by expert panel	ClinGen:CA396459027
Deletion	NC_000016.10:g.(?_68821995)_(68823632_?)del	CDH1	Likely pathogenic	16	68855898	68857535	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_68853177)_(68863706_?)dup	CDH1	Likely pathogenic	16	68853177	68863706	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_68835567)_(68847404_?)dup	CDH1	Likely pathogenic	16	68835567	68847404	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_68835567)_(68835802_?)dup	CDH1	Likely pathogenic	16	68835567	68835802	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_173842.3(IL1RN):c.62C>G (p.Ser21Ter)	IL1RN	Likely pathogenic	2	113885263	113885263	C	G	criteria provided, single submitter	ClinGen:CA53692982
Duplication	NM_004360.5(CDH1):c.2490dup (p.Leu831fs)	CDH1	Likely pathogenic	16	68867242	68867243	T	TG	reviewed by expert panel	ClinGen:CA645369680
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