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.7443del (p.Thr2482fs)	BRCA2	Pathogenic	13	32930571	32930571	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7671&base_change=del T,ClinGen:CA025092
Duplication	NM_000059.4(BRCA2):c.7467dup (p.Ile2490fs)	BRCA2	Pathogenic	13	32930595	32930596	A	AT	reviewed by expert panel	ClinGen:CA025102
single nucleotide variant	NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)	BRCA2	Pathogenic	13	32930600	32930600	C	T	reviewed by expert panel	ClinGen:CA025106
Deletion	NM_000059.4(BRCA2):c.7474_7475del (p.Asp2492fs)	BRCA2	Pathogenic	13	32930603	32930604	GGA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7702&base_change=del GA,ClinGen:CA025107
Deletion	NM_000059.4(BRCA2):c.748del (p.Ser249_Val250insTer)	BRCA2	Pathogenic	13	32905122	32905122	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):976&base_change=del G,ClinGen:CA025114
Deletion	NM_000059.4(BRCA2):c.7538del (p.Ala2513fs)	BRCA2	Pathogenic	13	32930667	32930667	GC	G	reviewed by expert panel	ClinGen:CA025137
Deletion	NM_000059.4(BRCA2):c.7543del (p.Thr2515fs)	BRCA2	Pathogenic	13	32930668	32930668	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7771&base_change=del A,ClinGen:CA025139
Deletion	NM_000059.4(BRCA2):c.7544del (p.Thr2515fs)	BRCA2	Pathogenic	13	32930673	32930673	AC	A	reviewed by expert panel	ClinGen:CA025141
single nucleotide variant	NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)	BRCA2	Pathogenic	13	32930687	32930687	C	T	reviewed by expert panel	ClinGen:CA025146
Deletion	NM_000059.4(BRCA2):c.755del (p.Asp252fs)	BRCA2	Pathogenic	13	32905129	32905129	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):983&base_change=del A,ClinGen:CA025150