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.1462dup (p.Thr488fs)	BRCA1	Pathogenic	17	41246085	41246086	G	GT	reviewed by expert panel	ClinGen:CA000981,Breast Cancer Information Core (BIC) (BRCA1):1581&base_change=ins A
Deletion	NM_007294.4(BRCA1):c.1518del (p.Arg507fs)	BRCA1	Pathogenic	17	41246030	41246030	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1637&base_change=del G,ClinGen:CA001024
Indel	NM_007294.4(BRCA1):c.1561_1562delinsTA (p.Ala521Ter)	BRCA1	Pathogenic	17	41245986	41245987	GC	TA	reviewed by expert panel	ClinGen:CA001043
Duplication	NM_007294.4(BRCA1):c.1695dup (p.Lys566fs)	BRCA1	Pathogenic	17	41245852	41245853	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1814&base_change=ins G,ClinGen:CA001111
Duplication	NM_007294.4(BRCA1):c.1700dup (p.Asn567fs)	BRCA1	Pathogenic	17	41245847	41245848	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1819&base_change=ins A,ClinGen:CA001112
Insertion	NM_007294.4(BRCA1):c.70_71insA (p.Cys24Ter)	BRCA1	Pathogenic	17	41276043	41276044	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):189&base_change=ins A,ClinGen:CA003824
Insertion	NM_007294.4(BRCA1):c.70_71insTGTC (p.Cys24fs)	BRCA1	Pathogenic	17	41276043	41276044	C	CGACA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):189&base_change=ins TGTC,ClinGen:CA003825
Deletion	NM_007294.4(BRCA1):c.1812del (p.Ala605fs)	BRCA1	Pathogenic	17	41245736	41245736	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1931&base_change=del A,ClinGen:CA001175
single nucleotide variant	NM_007294.4(BRCA1):c.80+1G>C	BRCA1	Pathogenic	17	41276033	41276033	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):199+1&base_change=G to C,ClinGen:CA003885
single nucleotide variant	NM_007294.4(BRCA1):c.80+1G>T	BRCA1	Pathogenic	17	41276033	41276033	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):199+1&base_change=G to T,ClinGen:CA003886