家族性膵がん - MGenReviews

家族性膵がん

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	NC_000017.11:g.(?_43047637)_(43099886_?)del	BRCA1	Pathogenic	17	41199654	41251903	na	na	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.1490del (p.Asn497fs)	PALB2	Pathogenic/Likely pathogenic	16	23646377	23646377	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658421
Deletion	NC_000017.11:g.(?_43106450)_(43106539_?)del	BRCA1	Likely pathogenic	17	41258467	41258556	na	na	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.442_457dup (p.Arg153fs)	PALB2	Pathogenic	16	23647409	23647410	C	CTCTTCTGCTGCTTCTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658445
Deletion	NM_024675.4(PALB2):c.2915del (p.Leu972fs)	PALB2	Pathogenic	16	23634371	23634371	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658397
single nucleotide variant	NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter)	PALB2	Pathogenic	16	23641773	23641773	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395128442
Duplication	NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)	PALB2	Pathogenic/Likely pathogenic	16	23647064	23647065	T	TTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658440
Deletion	NM_024675.4(PALB2):c.514_517del (p.Ser172fs)	PALB2	Pathogenic	16	23647350	23647353	CCAGA	C	reviewed by expert panel	ClinGen:CA658658444
Indel	NM_007294.4(BRCA1):c.5365_5366delinsA (p.Ala1789fs)	BRCA1	Pathogenic	17	41201178	41201179	GC	T	criteria provided, single submitter	ClinGen:CA658656643
single nucleotide variant	NM_007294.4(BRCA1):c.5277+1G>T	BRCA1	Pathogenic	17	41209068	41209068	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590997