家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
single nucleotide variant	NM_000059.4(BRCA2):c.6557C>A (p.Ser2186Ter)	BRCA2	Pathogenic	13	32915049	32915049	C	A	reviewed by expert panel	ClinGen:CA024166
Deletion	NM_000059.4(BRCA2):c.6589del (p.Thr2197fs)	BRCA2	Pathogenic	13	32915078	32915078	TA	T	reviewed by expert panel	ClinGen:CA024192
Deletion	NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)	BRCA2	Pathogenic	13	32915089	32915090	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6828&base_change=del TT,ClinGen:CA024197
Deletion	NM_000059.4(BRCA2):c.6601del (p.Ser2201fs)	BRCA2	Pathogenic	13	32915089	32915089	CT	C	reviewed by expert panel	ClinGen:CA024201
Deletion	NM_000059.4(BRCA2):c.6603_6604del (p.Asp2202fs)	BRCA2	Pathogenic	13	32915095	32915096	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6831&base_change=del TG,ClinGen:CA024205
Deletion	NM_000059.4(BRCA2):c.6627_6634del (p.Ile2209fs)	BRCA2	Pathogenic	13	32915118	32915125	ATAGAAGTT	A	reviewed by expert panel	ClinGen:CA024226
Deletion	NM_000059.4(BRCA2):c.6629_6630del (p.Glu2210fs)	BRCA2	Pathogenic	13	32915121	32915122	GAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6857&base_change=del AA,ClinGen:CA024228
Deletion	NM_000059.4(BRCA2):c.662_663del (p.Phe221fs)	BRCA2	Pathogenic	13	32903609	32903610	ATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):890&base_change=del TT,ClinGen:CA024217
Deletion	NM_000059.4(BRCA2):c.6634_6637del (p.Cys2212fs)	BRCA2	Pathogenic	13	32915123	32915126	AGTTT	A	reviewed by expert panel	ClinGen:CA024232
Deletion	NM_000059.4(BRCA2):c.6635_6636del (p.Cys2212fs)	BRCA2	Pathogenic	13	32915126	32915127	TTG	T	reviewed by expert panel	ClinGen:CA024234