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.1380del (p.Pro461fs)	CDH1	Pathogenic	16	68849477	68849477	TA	T	criteria provided, multiple submitters, no conflicts	-
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_004360.5(CDH1):c.26C>A (p.Ser9Ter)	CDH1	Pathogenic	16	68771344	68771344	C	A	reviewed by expert panel	-
Deletion	NM_004360.5(CDH1):c.631del (p.Thr211fs)	CDH1	Pathogenic	16	68842693	68842693	GA	G	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.1212del (p.Asn405fs)	CDH1	Pathogenic	16	68847286	68847286	GC	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_004360.5(CDH1):c.1397_1409delinsAAA (p.Leu466fs)	CDH1	Pathogenic	16	68849494	68849506	TCACCACCTCCAC	AAA	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.1605del (p.Asn536fs)	CDH1	Pathogenic	16	68853221	68853221	AT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004360.5(CDH1):c.1893dup (p.His632fs)	CDH1	Pathogenic	16	68856084	68856085	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004360.5(CDH1):c.1982del (p.Gly661fs)	CDH1	Pathogenic	16	68857345	68857345	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004360.5(CDH1):c.2444del (p.Leu815fs)	CDH1	Likely pathogenic	16	68867197	68867197	CT	C	criteria provided, single submitter	-