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
Insertion	NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs)	BRCA1	Pathogenic	17	41244935	41244936	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2731&base_change=ins T,ClinGen:CA001717
Indel	NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs)	BRCA1	Pathogenic	17	41244936	41244936	G	AA	reviewed by expert panel	ClinGen:CA327824
Duplication	NM_007294.4(BRCA1):c.2612dup (p.Phe872fs)	BRCA1	Pathogenic	17	41244935	41244936	C	CG	reviewed by expert panel	ClinGen:CA327825
Duplication	NM_007294.4(BRCA1):c.2617dup (p.Ser873fs)	BRCA1	Pathogenic	17	41244930	41244931	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2735&base_change=ins T,ClinGen:CA001723
single nucleotide variant	NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter)	BRCA1	Pathogenic	17	41244907	41244907	C	A	reviewed by expert panel	ClinGen:CA001732
Deletion	NM_007294.4(BRCA1):c.2643del (p.Glu881fs)	BRCA1	Pathogenic	17	41244905	41244905	AT	A	reviewed by expert panel	ClinGen:CA001733
Deletion	NM_007294.4(BRCA1):c.2646_2648del (p.Cys882_Ala883delinsTer)	BRCA1	Pathogenic	17	41244900	41244902	TGCA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2765&base_change=del TGC,ClinGen:CA001734
Insertion	NM_007294.4(BRCA1):c.2659_2660insA (p.Ala887fs)	BRCA1	Pathogenic	17	41244888	41244889	G	GT	reviewed by expert panel	ClinGen:CA001741
Duplication	NM_007294.4(BRCA1):c.2659dup (p.Ala887fs)	BRCA1	Pathogenic	17	41244888	41244889	G	GC	reviewed by expert panel	ClinGen:CA327828
Duplication	NM_007294.4(BRCA1):c.2665dup (p.Ser889fs)	BRCA1	Pathogenic	17	41244882	41244883	G	GA	reviewed by expert panel	ClinGen:CA327829