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
single nucleotide variant	NM_000059.4(BRCA2):c.516+2T>A	BRCA2	Pathogenic	13	32900421	32900421	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021489
Deletion	NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)	BRCA2	Pathogenic	13	32913656	32913657	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5392&base_change=del AG,ClinGen:CA021496
Duplication	NM_000059.4(BRCA2):c.5164_5168dup (p.Ile1724fs)	BRCA2	Pathogenic	13	32913653	32913654	A	AACAGT	reviewed by expert panel	ClinGen:CA021528
single nucleotide variant	NM_000059.4(BRCA2):c.517-1G>A	BRCA2	Pathogenic	13	32900635	32900635	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021567,Breast Cancer Information Core (BIC) (BRCA2):745-1&base_change=G to A
single nucleotide variant	NM_000059.4(BRCA2):c.517-2A>G	BRCA2	Pathogenic	13	32900634	32900634	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):745-2&base_change=A to G,ClinGen:CA021578
Deletion	NM_000059.4(BRCA2):c.5171del (p.Ile1724fs)	BRCA2	Pathogenic	13	32913663	32913663	AT	A	reviewed by expert panel	ClinGen:CA021561
Deletion	NM_000059.4(BRCA2):c.5180del (p.Asn1727fs)	BRCA2	Pathogenic	13	32913669	32913669	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5408&base_change=del A,ClinGen:CA021614
Duplication	NM_000059.4(BRCA2):c.5180dup (p.Asn1727fs)	BRCA2	Pathogenic	13	32913668	32913669	G	GA	reviewed by expert panel	ClinGen:CA021610
Duplication	NM_000059.4(BRCA2):c.5197dup (p.Ser1733fs)	BRCA2	Pathogenic	13	32913688	32913689	C	CT	reviewed by expert panel	ClinGen:CA021659
Duplication	NM_000059.4(BRCA2):c.51dup (p.Arg18fs)	BRCA2	Pathogenic	13	32890647	32890648	C	CA	reviewed by expert panel	ClinGen:CA021397