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_007294.4(BRCA1):c.2836_2837del (p.Ile946fs)	BRCA1	Pathogenic	17	41244711	41244712	GAT	G	reviewed by expert panel	ClinGen:CA001854
Deletion	NM_007294.4(BRCA1):c.2840_2841del (p.Lys947fs)	BRCA1	Pathogenic	17	41244707	41244708	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2959&base_change=del AA,ClinGen:CA001856
Deletion	NM_007294.4(BRCA1):c.2844_2853del (p.Gly949fs)	BRCA1	Pathogenic	17	41244695	41244704	ACCTAGAGCCT	A	reviewed by expert panel	ClinGen:CA001857
Duplication	NM_007294.4(BRCA1):c.2848dup (p.Ser950fs)	BRCA1	Pathogenic	17	41244699	41244700	G	GA	reviewed by expert panel	ClinGen:CA327840
Deletion	NM_007294.4(BRCA1):c.2856_2857del (p.Phe952fs)	BRCA1	Pathogenic	17	41244691	41244692	CAA	C	reviewed by expert panel	ClinGen:CA001859
single nucleotide variant	NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)	BRCA1	Pathogenic	17	41244684	41244684	G	T	reviewed by expert panel	ClinGen:CA001866
Deletion	NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)	BRCA1	Pathogenic	17	41244678	41244682	CTGAGA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2985&base_change=del TCTCA,Breast Cancer Information Core (BIC) (BRCA1):2982&base_change=del TCATC,ClinGen:CA001864
single nucleotide variant	NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter)	BRCA1	Pathogenic	17	41244679	41244679	G	A	reviewed by expert panel	ClinGen:CA001870
Duplication	NM_007294.4(BRCA1):c.2870dup (p.Phe958fs)	BRCA1	Pathogenic	17	41244677	41244678	C	CT	reviewed by expert panel	ClinGen:CA327841
Deletion	NM_007294.4(BRCA1):c.2872_2876del (p.Phe958fs)	BRCA1	Pathogenic	17	41244672	41244676	TCTGAA	T	reviewed by expert panel	ClinGen:CA001873