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
Deletion	NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)	BRCA2	Pathogenic	13	32968971	32968971	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9631&base_change=del C,ClinGen:CA026143
Deletion	NM_000059.4(BRCA2):c.9408del (p.Thr3137fs)	BRCA2	Pathogenic	13	32968976	32968976	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9636&base_change=del T,ClinGen:CA026145
Deletion	NM_000059.4(BRCA2):c.9430del (p.Ser3144fs)	BRCA2	Pathogenic	13	32968995	32968995	AT	A	reviewed by expert panel	ClinGen:CA026152
Deletion	NM_000059.4(BRCA2):c.9431del (p.Ser3144fs)	BRCA2	Pathogenic	13	32969000	32969000	TC	T	reviewed by expert panel	ClinGen:CA026153
Deletion	NM_000059.4(BRCA2):c.9458del (p.Gly3153fs)	BRCA2	Pathogenic	13	32969025	32969025	AG	A	reviewed by expert panel	ClinGen:CA026166
Indel	NM_000059.4(BRCA2):c.9463_9467delinsGAATGATC (p.Phe3155_Gln3156delinsGluTer)	BRCA2	Pathogenic	13	32969032	32969036	TTTCA	GAATGATC	reviewed by expert panel	ClinGen:CA026169
single nucleotide variant	NM_000059.4(BRCA2):c.9466C>T (p.Gln3156Ter)	BRCA2	Pathogenic	13	32969035	32969035	C	T	reviewed by expert panel	ClinGen:CA026170
Deletion	NM_000059.4(BRCA2):c.9466del (p.Gln3156fs)	BRCA2	Pathogenic	13	32969035	32969035	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9694&base_change=del C,ClinGen:CA026171
Deletion	NM_000059.4(BRCA2):c.9474del (p.Phe3159fs)	BRCA2	Pathogenic	13	32969043	32969043	CA	C	reviewed by expert panel	ClinGen:CA026173
single nucleotide variant	NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter)	BRCA2	Pathogenic	13	32969050	32969050	A	T	reviewed by expert panel	ClinGen:CA026175