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.1319del (p.Ala439_Leu440insTer)	BRCA1	Pathogenic	17	41246229	41246229	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1438&base_change=del T,ClinGen:CA000859
Duplication	NM_007294.4(BRCA1):c.1319dup (p.Leu440fs)	BRCA1	Pathogenic	17	41246228	41246229	T	TA	reviewed by expert panel	ClinGen:CA327733
single nucleotide variant	NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)	BRCA1	Pathogenic	17	41267746	41267746	C	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00114,ClinGen:CA000861
single nucleotide variant	NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)	BRCA1	Pathogenic	17	41267746	41267746	C	A	reviewed by expert panel	ClinGen:CA000862
single nucleotide variant	NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter)	BRCA1	Pathogenic	17	41246222	41246222	A	T	reviewed by expert panel	ClinGen:CA000865
single nucleotide variant	NM_007294.4(BRCA1):c.1333G>T (p.Glu445Ter)	BRCA1	Pathogenic	17	41246215	41246215	C	A	reviewed by expert panel	ClinGen:CA000870
Deletion	NM_007294.4(BRCA1):c.1335_1336del (p.Arg446fs)	BRCA1	Pathogenic	17	41246212	41246213	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1454&base_change=del AA,ClinGen:CA000871
Duplication	NM_007294.4(BRCA1):c.1339dup (p.Val447fs)	BRCA1	Pathogenic	17	41246208	41246209	A	AC	reviewed by expert panel	ClinGen:CA327736
Indel	NM_007294.4(BRCA1):c.133_134+3delinsT	BRCA1	Pathogenic	17	41267740	41267744	TACTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA327737
Deletion	NM_007294.4(BRCA1):c.133_134delAA (p.Lys45fs)	BRCA1	Pathogenic	17	41267743	41267744	CTT	C	reviewed by expert panel	ClinGen:CA000867