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.6638del (p.Ser2213fs)	BRCA2	Pathogenic	13	32915130	32915130	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6866&base_change=del C,ClinGen:CA024238
Deletion	NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)	BRCA2	Pathogenic	13	32915134	32915134	CT	C	reviewed by expert panel	ClinGen:CA024245,Breast Cancer Information Core (BIC) (BRCA2):6871&base_change=del T
Duplication	NM_000059.4(BRCA2):c.6644dup (p.Tyr2215Ter)	BRCA2	Pathogenic	13	32915135	32915136	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6872&base_change=ins A,ClinGen:CA024247
Duplication	NM_000059.4(BRCA2):c.6652dup (p.Asp2218fs)	BRCA2	Pathogenic	13	32915143	32915144	A	AG	reviewed by expert panel	ClinGen:CA024258
single nucleotide variant	NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)	BRCA2	Pathogenic	13	32915148	32915148	C	G	reviewed by expert panel	ClinGen:CA024263
Deletion	NM_000059.4(BRCA2):c.6658_6661del (p.Glu2220fs)	BRCA2	Pathogenic	13	32915149	32915152	CAGAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6886&base_change=del GAAA,ClinGen:CA024265
Deletion	NM_000059.4(BRCA2):c.6673del (p.Thr2225fs)	BRCA2	Pathogenic	13	32915163	32915163	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6901&base_change=del A,ClinGen:CA024273
Deletion	NM_000059.4(BRCA2):c.6676_6677del (p.Glu2226fs)	BRCA2	Pathogenic	13	32915167	32915168	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6904&base_change=del GA,ClinGen:CA024279
Deletion	NM_000059.4(BRCA2):c.6678del (p.Ala2227fs)	BRCA2	Pathogenic	13	32915169	32915169	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6906&base_change=del A,ClinGen:CA024281
Duplication	NM_000059.4(BRCA2):c.6682dup (p.Val2228fs)	BRCA2	Pathogenic	13	32915173	32915174	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6910&base_change=ins G,ClinGen:CA024285