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.8237_8238del (p.Thr2746fs)	BRCA2	Pathogenic	13	32937575	32937576	GAC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8465&base_change=del CA,ClinGen:CA025533
single nucleotide variant	NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)	BRCA2	Pathogenic	13	32937582	32937582	G	A	reviewed by expert panel	ClinGen:CA025535
Deletion	NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)	BRCA2	Pathogenic	13	32937585	32937586	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8474&base_change=del AG,Breast Cancer Information Core (BIC) (BRCA2):8475&base_change=del GA,ClinGen:CA025536
Deletion	NM_000059.4(BRCA2):c.8285del (p.Pro2762fs)	BRCA2	Pathogenic	13	32937623	32937623	TC	T	reviewed by expert panel	ClinGen:CA025550
single nucleotide variant	NM_000059.4(BRCA2):c.8314G>T (p.Glu2772Ter)	BRCA2	Pathogenic	13	32937653	32937653	G	T	reviewed by expert panel	ClinGen:CA025564
Deletion	NM_000059.4(BRCA2):c.8317_8330del (p.Ser2773fs)	BRCA2	Pathogenic	13	32937654	32937667	GAATCTCTTATGTTA	G	reviewed by expert panel	ClinGen:CA025565
single nucleotide variant	NM_000059.4(BRCA2):c.8327T>G (p.Leu2776Ter)	BRCA2	Pathogenic	13	32937666	32937666	T	G	reviewed by expert panel	ClinGen:CA025575
Deletion	NM_000059.4(BRCA2):c.8331_8332del (p.Lys2777fs)	BRCA2	Pathogenic	13	32937669	32937670	AAG	A	reviewed by expert panel	ClinGen:CA025576
single nucleotide variant	NM_000059.4(BRCA2):c.8331+1G>T	BRCA2	Likely pathogenic	13	32937671	32937671	G	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):8559+1&base_change=G to T,ClinGen:CA025579
single nucleotide variant	NM_000059.4(BRCA2):c.8332-1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32944538	32944538	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025583