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
single nucleotide variant	NM_000059.4(BRCA2):c.5400C>G (p.Tyr1800Ter)	BRCA2	Pathogenic	13	32913892	32913892	C	G	reviewed by expert panel	ClinGen:CA16619724
Duplication	NM_000059.4(BRCA2):c.5465dup (p.Asn1822fs)	BRCA2	Pathogenic	13	32913952	32913953	C	CA	reviewed by expert panel	ClinGen:CA16619726
Deletion	NM_000059.4(BRCA2):c.5593del (p.Ile1865fs)	BRCA2	Pathogenic	13	32914085	32914085	CA	C	reviewed by expert panel	ClinGen:CA16619727
Deletion	NM_000059.4(BRCA2):c.6263del (p.Thr2088fs)	BRCA2	Pathogenic	13	32914755	32914755	AC	A	reviewed by expert panel	ClinGen:CA16619738
Insertion	NM_000059.4(BRCA2):c.6273_6274insA (p.Leu2092fs)	BRCA2	Pathogenic	13	32914765	32914766	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619740
Deletion	NM_000059.4(BRCA2):c.6379del (p.Ser2127fs)	BRCA2	Pathogenic	13	32914871	32914871	CA	C	reviewed by expert panel	ClinGen:CA16619743
Deletion	NM_000059.4(BRCA2):c.6480del (p.Asp2161fs)	BRCA2	Pathogenic	13	32914971	32914971	CA	C	reviewed by expert panel	ClinGen:CA16619748
Deletion	NM_000059.4(BRCA2):c.6662del (p.Asn2221fs)	BRCA2	Pathogenic	13	32915151	32915151	GA	G	reviewed by expert panel	ClinGen:CA16619751
Deletion	NM_000059.4(BRCA2):c.6986_6990del (p.Pro2329fs)	BRCA2	Pathogenic	13	32921012	32921016	CCGATT	C	reviewed by expert panel	ClinGen:CA16619755
Deletion	NM_000059.4(BRCA2):c.7165_7169del (p.Thr2388_Arg2389insTer)	BRCA2	Pathogenic	13	32929154	32929158	CAAGAA	C	reviewed by expert panel	ClinGen:CA16619758