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
Duplication	NM_000059.4(BRCA2):c.7884dup (p.Trp2629fs)	BRCA2	Pathogenic	13	32936737	32936738	T	TA	reviewed by expert panel	ClinGen:CA025322
single nucleotide variant	NM_000059.4(BRCA2):c.7886G>A (p.Trp2629Ter)	BRCA2	Pathogenic	13	32936740	32936740	G	A	reviewed by expert panel	ClinGen:CA025323
single nucleotide variant	NM_000059.4(BRCA2):c.7908T>A (p.Cys2636Ter)	BRCA2	Pathogenic	13	32936762	32936762	T	A	reviewed by expert panel	ClinGen:CA025327
Deletion	NM_000059.4(BRCA2):c.7926del (p.Phe2642fs)	BRCA2	Pathogenic	13	32936778	32936778	AT	A	reviewed by expert panel	ClinGen:CA025337
single nucleotide variant	NM_000059.4(BRCA2):c.793+1G>A	BRCA2	Pathogenic	13	32905168	32905168	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):1021+1&base_change=G to A,ClinGen:CA025342
single nucleotide variant	NM_000059.4(BRCA2):c.793+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32905168	32905168	G	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):1021+1&base_change=G to T,ClinGen:CA025343
Deletion	NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)	BRCA2	Pathogenic	13	32936788	32936788	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8162&base_change=del G,ClinGen:CA025344
single nucleotide variant	NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro)	BRCA2	Pathogenic/Likely pathogenic	13	32936794	32936794	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025346
Deletion	NM_000059.4(BRCA2):c.7954del (p.Val2652fs)	BRCA2	Pathogenic	13	32936806	32936806	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8182&base_change=del G,ClinGen:CA025353
single nucleotide variant	NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)	BRCA2	Pathogenic/Likely pathogenic	13	32936812	32936812	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025354