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_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs)	BRCA2	Pathogenic	13	32915215	32915216	CAG	C	reviewed by expert panel	ClinGen:CA024340
single nucleotide variant	NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter)	BRCA2	Pathogenic	13	32905062	32905062	A	T	reviewed by expert panel	ClinGen:CA024542
Deletion	NM_000059.4(BRCA2):c.6941del (p.Thr2314fs)	BRCA2	Pathogenic	13	32920967	32920967	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7169&base_change=del C,ClinGen:CA024598
Deletion	NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)	BRCA2	Pathogenic	13	32920968	32920971	CAATA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7172&base_change=del TAAA,ClinGen:CA024608
single nucleotide variant	NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)	BRCA2	Pathogenic	13	32920978	32920978	C	T	reviewed by expert panel	ClinGen:CA024619
single nucleotide variant	NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	BRCA2	Pathogenic	13	32921033	32921033	G	A	reviewed by expert panel	ClinGen:CA024713,OMIM:600185.0020
Deletion	NM_000059.4(BRCA2):c.700del (p.Ser234fs)	BRCA2	Pathogenic	13	32905070	32905070	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):924&base_change=del T,Breast Cancer Information Core (BIC) (BRCA2):928&base_change=del T,ClinGen:CA024654
Deletion	NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)	BRCA2	Pathogenic	13	32929058	32929059	TTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7297&base_change=del CT,ClinGen:CA024835
single nucleotide variant	NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)	BRCA2	Pathogenic	13	32929123	32929123	C	G	reviewed by expert panel	ClinGen:CA024895
Indel	NM_000059.3(BRCA2):c.7185_7190delinsAG (p.His2395fs)	BRCA2	Pathogenic	13	32929175	32929180	CTTGAT	AG	reviewed by expert panel	ClinGen:CA024935