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.6490del (p.Gln2164fs)	BRCA2	Pathogenic	13	32914982	32914982	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6718&base_change=del C,ClinGen:CA024109
Deletion	NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs)	BRCA2	Pathogenic	13	32914983	32914986	CAGTT	C	reviewed by expert panel	ClinGen:CA024111
Deletion	NM_000059.4(BRCA2):c.6491_6495del (p.Gln2164fs)	BRCA2	Pathogenic	13	32914983	32914987	CAGTTG	C	reviewed by expert panel	ClinGen:CA024113
Deletion	NM_000059.4(BRCA2):c.6494del (p.Leu2165fs)	BRCA2	Pathogenic	13	32914985	32914985	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6722&base_change=del T,ClinGen:CA024115
Deletion	NM_000059.4(BRCA2):c.6509_6510del (p.Lys2170fs)	BRCA2	Pathogenic	13	32915000	32915001	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6737&base_change=del AA,ClinGen:CA024123
Deletion	NM_000059.4(BRCA2):c.6527del (p.Asn2176fs)	BRCA2	Pathogenic	13	32915018	32915018	GA	G	reviewed by expert panel	ClinGen:CA024129
single nucleotide variant	NM_000059.4(BRCA2):c.652G>T (p.Glu218Ter)	BRCA2	Pathogenic	13	32903600	32903600	G	T	reviewed by expert panel	ClinGen:CA024134
Deletion	NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs)	BRCA2	Pathogenic	13	32915020	32915023	ACATT	A	reviewed by expert panel	ClinGen:CA024136
single nucleotide variant	NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter)	BRCA2	Pathogenic	13	32915039	32915039	G	T	reviewed by expert panel	ClinGen:CA024157
Deletion	NM_000059.4(BRCA2):c.6553del (p.Ala2185fs)	BRCA2	Pathogenic	13	32915044	32915044	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6781&base_change=del G,ClinGen:CA024162