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.2105dup (p.Leu702fs)	BRCA1	Pathogenic	17	41245442	41245443	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2224&base_change=ins T,ClinGen:CA001393
single nucleotide variant	NM_007294.4(BRCA1):c.212+1G>A	BRCA1	Pathogenic	17	41258472	41258472	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):331+1&base_change=G to A,ClinGen:CA001405
single nucleotide variant	NM_007294.4(BRCA1):c.213-11T>G	BRCA1	Pathogenic	17	41256984	41256984	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):332-11&base_change=T to G,ClinGen:CA001424,OMIM:113705.0004
single nucleotide variant	NM_007294.4(BRCA1):c.213-12A>G	BRCA1	Pathogenic	17	41256985	41256985	T	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):332-12&base_change=A to G,ClinGen:CA001426
single nucleotide variant	NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)	BRCA1	Pathogenic	17	41245410	41245410	G	C	reviewed by expert panel	ClinGen:CA001436
single nucleotide variant	NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter)	BRCA1	Pathogenic	17	41245390	41245390	C	A	reviewed by expert panel	ClinGen:CA001445
Deletion	NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs)	BRCA1	Pathogenic	17	41245337	41245338	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2329&base_change=del CA,ClinGen:CA001477
Duplication	NM_007294.4(BRCA1):c.2213_2214dup (p.Lys739fs)	BRCA1	Pathogenic	17	41245333	41245334	T	TAA	reviewed by expert panel	ClinGen:CA001481
Deletion	NM_007294.4(BRCA1):c.2269del (p.Val757fs)	BRCA1	Pathogenic	17	41245279	41245279	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2388&base_change=del G,ClinGen:CA001516
Deletion	NM_007294.4(BRCA1):c.2299del (p.Ser767fs)	BRCA1	Pathogenic	17	41245249	41245249	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2418&base_change=del A,ClinGen:CA001533