遺伝性びまん性胃がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1145del (p.Gly382fs)	CDH1	Pathogenic/Likely pathogenic	16	68847221	68847221	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683953
Deletion	NM_004360.5(CDH1):c.1553_1565+39del	CDH1	Pathogenic/Likely pathogenic	16	68849647	68849698	ATGGAACAGAAAATAACGTAAGTGTGAGGATTTTTCAACTGACTTGCAGCAAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658489
Insertion	NM_004360.5(CDH1):c.1565+2_1565+3insTT	CDH1	Pathogenic/Likely pathogenic	16	68849663	68849664	G	GTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658490
single nucleotide variant	NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)	CDH1	Pathogenic/Likely pathogenic	16	68856093	68856093	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA281003,UniProtKB:P12830#VAR_055431,OMIM:192090.0015
Deletion	NC_000016.10:g.(?_68801660)_(68801903_?)del	CDH1	Pathogenic	16	68835563	68835806	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68815505)_(68815769_?)del	CDH1	Pathogenic	16	68849408	68849672	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68828164)_(68833509_?)del	CDH1	Pathogenic	16	68862067	68867412	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68737406)_(68833509_?)del	CDH1	Pathogenic	16	68771309	68867412	na	na	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.2474del (p.Pro825fs)	CDH1	Pathogenic	16	68867224	68867224	GC	G	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.1982del (p.Gly661fs)	CDH1	Pathogenic	16	68857345	68857345	TG	T	criteria provided, multiple submitters, no conflicts	-