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.8488-1G>A	BRCA2	Pathogenic	13	32945092	32945092	G	A	reviewed by expert panel	ClinGen:CA025677,OMIM:600185.0017
Deletion	NM_000059.4(BRCA2):c.8501del (p.Thr2834fs)	BRCA2	Pathogenic	13	32945106	32945106	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8729&base_change=del C,ClinGen:CA025683
Deletion	NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs)	BRCA2	Pathogenic	13	32945150	32945153	AAAGG	A	reviewed by expert panel	ClinGen:CA025705
Deletion	NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)	BRCA2	Pathogenic	13	32945180	32945180	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8803&base_change=del C,ClinGen:CA025719
Duplication	NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs)	BRCA2	Pathogenic	13	32945189	32945190	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8813&base_change=ins T,ClinGen:CA025723
single nucleotide variant	NM_000059.4(BRCA2):c.8633-2A>G	BRCA2	Pathogenic	13	32950805	32950805	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8861-2&base_change=A to G,ClinGen:CA025749
single nucleotide variant	NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)	BRCA2	Pathogenic	13	32950851	32950851	C	T	reviewed by expert panel	ClinGen:CA025776
Deletion	NM_000059.4(BRCA2):c.8680del (p.Gln2894fs)	BRCA2	Pathogenic	13	32950854	32950854	GC	G	reviewed by expert panel	ClinGen:CA025779
single nucleotide variant	NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)	BRCA2	Pathogenic	13	32950869	32950869	C	T	reviewed by expert panel	ClinGen:CA025783
single nucleotide variant	NM_000059.4(BRCA2):c.8754+5G>A	BRCA2	Pathogenic/Likely pathogenic	13	32950933	32950933	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):8982+5&base_change=G to A,ClinGen:CA025807