家族性膵がん - MGenReviews

家族性膵がん

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_000059.4(BRCA2):c.9257-5_9278del	BRCA2	Pathogenic	13	32968820	32968846	ATTCTAGGACTTGCCCCTTTCGTCTATT	A	criteria provided, single submitter	ClinGen:CA165073
Indel	NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs)	PALB2	Pathogenic	16	23652453	23652453	A	CG	criteria provided, single submitter	ClinGen:CA165127
Duplication	NM_000059.4(BRCA2):c.7855dup (p.Trp2619fs)	BRCA2	Pathogenic	13	32936706	32936707	A	AT	reviewed by expert panel	ClinGen:CA165137
Deletion	NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer)	BRCA2	Pathogenic	13	32944591	32944602	TTTCCTGACCCTA	T	reviewed by expert panel	ClinGen:CA025618
Deletion	NM_024675.4(PALB2):c.654del (p.Asp219fs)	PALB2	Pathogenic	16	23647213	23647213	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165253
Deletion	NM_000059.4(BRCA2):c.8948_8953+5del	BRCA2	Pathogenic	13	32953644	32953654	AAAGATTCAGGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165434
Deletion	NM_000059.4(BRCA2):c.9770_9773del (p.Lys3257fs)	BRCA2	Pathogenic	13	32972417	32972420	GAGAA	G	reviewed by expert panel	ClinGen:CA026293
single nucleotide variant	NM_024675.4(PALB2):c.3201+1G>T	PALB2	Likely pathogenic	16	23625324	23625324	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165631
Deletion	NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)	BRCA2	Pathogenic	13	32915306	32915310	AAGAAG	A	reviewed by expert panel	ClinGen:CA024442
Deletion	NM_000059.4(BRCA2):c.1428_1431del (p.His477fs)	BRCA2	Pathogenic	13	32907043	32907046	CTCAT	C	reviewed by expert panel	ClinGen:CA012021