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.2486_2487del (p.Gly828_Phe829insTer)	BRCA1	Pathogenic	17	41245061	41245062	TAA	T	reviewed by expert panel	ClinGen:CA001656
Deletion	NM_007294.4(BRCA1):c.2487del (p.Phe829fs)	BRCA1	Pathogenic	17	41245061	41245061	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2606&base_change=del T,ClinGen:CA001657
Duplication	NM_007294.4(BRCA1):c.2487dup (p.Lys830Ter)	BRCA1	Pathogenic	17	41245060	41245061	T	TA	reviewed by expert panel	ClinGen:CA327816
Duplication	NM_007294.4(BRCA1):c.2488_2497dup (p.Leu833Ter)	BRCA1	Pathogenic	17	41245050	41245051	A	AATGGATACTT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2607&base_change=dup AAGTATCCAT,ClinGen:CA026481
Deletion	NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs)	BRCA1	Pathogenic	17	41245040	41245041	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2626&base_change=del AA,ClinGen:CA001661
Deletion	NM_007294.4(BRCA1):c.2513del (p.Asn838fs)	BRCA1	Pathogenic	17	41245035	41245035	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2632&base_change=del A,ClinGen:CA001663
Deletion	NM_007294.4(BRCA1):c.2518del (p.Ser840fs)	BRCA1	Pathogenic	17	41245030	41245030	CT	C	reviewed by expert panel	ClinGen:CA001669
single nucleotide variant	NM_007294.4(BRCA1):c.2545G>T (p.Glu849Ter)	BRCA1	Pathogenic	17	41245003	41245003	C	A	reviewed by expert panel	ClinGen:CA001680
Deletion	NM_007294.4(BRCA1):c.2551del (p.Glu851fs)	BRCA1	Pathogenic	17	41244997	41244997	TC	T	reviewed by expert panel	ClinGen:CA001681
Deletion	NM_007294.4(BRCA1):c.2556del (p.Asp853fs)	BRCA1	Pathogenic	17	41244992	41244992	CA	C	reviewed by expert panel	ClinGen:CA001683