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_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del)	IL1RN	Likely pathogenic	2	113888627	113888641	GATAGATGTGGTACCC	G	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
Deletion	NM_173842.3(IL1RN):c.156_157del (p.Asn52fs)	IL1RN	Pathogenic	2	113887191	113887192	AAC	A	criteria provided, single submitter	ClinGen:CA224944,OMIM:147679.0004
single nucleotide variant	NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter)	IL1RN	Pathogenic	2	113888645	113888645	G	T	criteria provided, single submitter	ClinGen:CA124199,OMIM:147679.0002
single nucleotide variant	NM_004360.5(CDH1):c.2165-2A>G	CDH1	Likely pathogenic	16	68862075	68862075	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_68801660)_(68801903_?)del	CDH1	Pathogenic	16	68835563	68835806	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.2295+1G>C	CDH1	Likely pathogenic	16	68862208	68862208	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004360.5(CDH1):c.164-1G>A	CDH1	Likely pathogenic	16	68835572	68835572	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_68815505)_(68815769_?)del	CDH1	Pathogenic	16	68849408	68849672	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68810187)_(68813505_?)del	CDH1	Likely pathogenic	16	68844090	68847408	na	na	criteria provided, single submitter	-