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
Duplication	NM_007294.4(BRCA1):c.2273dup (p.Leu758fs)	BRCA1	Pathogenic	17	41245274	41245275	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2392&base_change=ins T,ClinGen:CA001517
Deletion	NM_007294.4(BRCA1):c.2337_2338del (p.Gln780fs)	BRCA1	Pathogenic	17	41245210	41245211	TGA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2456&base_change=del TC,ClinGen:CA001560
Duplication	NM_007294.4(BRCA1):c.2355dup (p.Leu786fs)	BRCA1	Pathogenic	17	41245192	41245193	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2474&base_change=ins A,ClinGen:CA001573
Deletion	NM_007294.4(BRCA1):c.2376del (p.Lys793fs)	BRCA1	Pathogenic	17	41245172	41245172	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2495&base_change=del G,ClinGen:CA001581
single nucleotide variant	NM_007294.4(BRCA1):c.134+1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41267742	41267742	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):253+1&base_change=G to C,ClinGen:CA000878
single nucleotide variant	NM_007294.4(BRCA1):c.135-2A>G	BRCA1	Pathogenic	17	41258552	41258552	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):254-2&base_change=A to G,ClinGen:CA000897
Duplication	NM_007294.4(BRCA1):c.2438dup (p.Leu814fs)	BRCA1	Pathogenic	17	41245109	41245110	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2557&base_change=ins G,ClinGen:CA001627
Duplication	NM_007294.4(BRCA1):c.139dup (p.Cys47fs)	BRCA1	Pathogenic	17	41258545	41258546	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):258&base_change=ins T,ClinGen:CA000931
Duplication	NM_007294.4(BRCA1):c.2474dup (p.Asp825fs)	BRCA1	Pathogenic	17	41245073	41245074	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2593&base_change=ins A,ClinGen:CA001644
Deletion	NM_007294.4(BRCA1):c.2586_2593del (p.Val863fs)	BRCA1	Pathogenic	17	41244955	41244962	TTTGAAACC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2705&base_change=del GGTTTCAA,ClinGen:CA001700