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
single nucleotide variant	NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)	BRCA2	Pathogenic/Likely pathogenic	13	32950928	32950928	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025809
Deletion	NM_000059.3(BRCA2):c.8756delG	BRCA2	Pathogenic	13	32953453	32953453	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8984&base_change=del G,ClinGen:CA025817
single nucleotide variant	NM_000059.4(BRCA2):c.8770G>T (p.Glu2924Ter)	BRCA2	Pathogenic	13	32953469	32953469	G	T	reviewed by expert panel	ClinGen:CA025821
single nucleotide variant	NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter)	BRCA2	Pathogenic	13	32953472	32953472	C	T	reviewed by expert panel	ClinGen:CA025822
Deletion	NM_000059.4(BRCA2):c.8789del (p.Asn2930fs)	BRCA2	Pathogenic	13	32953487	32953487	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9017&base_change=del A,ClinGen:CA025827
single nucleotide variant	NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter)	BRCA2	Pathogenic	13	32906495	32906495	G	T	reviewed by expert panel	ClinGen:CA025833
Deletion	NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)	BRCA2	Pathogenic	13	32953514	32953517	TAAGA	T	reviewed by expert panel	ClinGen:CA025834
Deletion	NM_000059.4(BRCA2):c.8820_8823del (p.Gln2941fs)	BRCA2	Pathogenic	13	32953517	32953520	GAAAC	G	reviewed by expert panel	ClinGen:CA025836
single nucleotide variant	NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter)	BRCA2	Pathogenic	13	32953520	32953520	C	T	reviewed by expert panel	ClinGen:CA025837
Insertion	NM_000059.4(BRCA2):c.8827_8828insG (p.Gln2943fs)	BRCA2	Pathogenic	13	32953526	32953527	C	CG	reviewed by expert panel	ClinGen:CA025841