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_000059.4(BRCA2):c.6219dup (p.His2074fs)	BRCA2	Pathogenic	13	32914710	32914711	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6447&base_change=ins A,ClinGen:CA023766
Insertion	NM_000059.4(BRCA2):c.6374_6375insA (p.Cys2126fs)	BRCA2	Pathogenic	13	32914866	32914867	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6602&base_change=ins A,ClinGen:CA023961
Insertion	NM_000059.4(BRCA2):c.6391_6392insT (p.Lys2131fs)	BRCA2	Pathogenic	13	32914883	32914884	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6619&base_change=ins T,ClinGen:CA023974
Insertion	NM_000059.4(BRCA2):c.6449_6450insTA (p.Lys2150fs)	BRCA2	Pathogenic	13	32914940	32914941	A	AAT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6677&base_change=ins TA,ClinGen:CA024067
Insertion	NM_000059.3(BRCA2):c.6535_6536ins8	BRCA2	Pathogenic	13	32915027	32915028	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):6763&base_change=ins 8
Duplication	NM_000059.4(BRCA2):c.6535dup (p.Val2179fs)	BRCA2	Pathogenic	13	32915026	32915027	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6763&base_change=ins G,ClinGen:CA024149
Deletion	NM_000059.4(BRCA2):c.6591del (p.Glu2198fs)	BRCA2	Pathogenic	13	32915083	32915083	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6819&base_change=del T,ClinGen:CA024195
single nucleotide variant	NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)	BRCA2	Pathogenic	13	32915137	32915137	C	G	reviewed by expert panel	ClinGen:CA024254
Deletion	NM_000059.4(BRCA2):c.6658_6662del (p.Glu2220fs)	BRCA2	Pathogenic	13	32915149	32915153	CAGAAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6886&base_change=del GAAAA,ClinGen:CA024267
single nucleotide variant	NM_000059.4(BRCA2):c.475+3A>T	BRCA2	Pathogenic	13	32900290	32900290	A	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):703+3&base_change=A to T,ClinGen:CA020764