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_173842.3(IL1RN):c.229G>T (p.Glu77Ter)	IL1RN	Pathogenic	2	113888645	113888645	G	T	criteria provided, single submitter	ClinGen:CA124199,OMIM:147679.0002
Deletion	NM_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del)	IL1RN	Likely pathogenic	2	113888627	113888641	GATAGATGTGGTACCC	G	criteria provided, single submitter	-
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.62C>G (p.Ser21Ter)	IL1RN	Likely pathogenic	2	113885263	113885263	C	G	criteria provided, single submitter	ClinGen:CA53692982
single nucleotide variant	NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter)	CDH1	Pathogenic	16	68867259	68867259	G	T	reviewed by expert panel	ClinGen:CA396472215
Duplication	NM_004360.5(CDH1):c.2490dup (p.Leu831fs)	CDH1	Likely pathogenic	16	68867242	68867243	T	TG	reviewed by expert panel	ClinGen:CA645369680
Deletion	NM_004360.5(CDH1):c.2474del (p.Pro825fs)	CDH1	Pathogenic	16	68867224	68867224	GC	G	criteria provided, single submitter	-
Duplication	NM_004360.5(CDH1):c.2474dup (p.Pro826fs)	CDH1	Pathogenic	16	68867223	68867224	G	GC	reviewed by expert panel	ClinGen:CA658658499
single nucleotide variant	NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)	CDH1	Likely pathogenic	16	68867199	68867199	A	T	reviewed by expert panel	ClinGen:CA396471960
Deletion	NM_004360.5(CDH1):c.2444del (p.Leu815fs)	CDH1	Likely pathogenic	16	68867197	68867197	CT	C	criteria provided, single submitter	-