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.5614A>T (p.Lys1872Ter)	BRCA2	Pathogenic	13	32914106	32914106	A	T	reviewed by expert panel	ClinGen:CA022708
Deletion	NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)	BRCA2	Pathogenic	13	32914110	32914113	GTAAT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5849&base_change=del TTAA,ClinGen:CA022719
Deletion	NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)	BRCA2	Pathogenic	13	32914123	32914123	AC	A	reviewed by expert panel	ClinGen:CA022753
single nucleotide variant	NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	BRCA2	Pathogenic	13	32914137	32914137	C	A	reviewed by expert panel	ClinGen:CA022818
single nucleotide variant	NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter)	BRCA2	Pathogenic	13	32914147	32914147	C	A	reviewed by expert panel	ClinGen:CA022870
Duplication	NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter)	BRCA2	Pathogenic	13	32914172	32914173	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5909&base_change=ins A,ClinGen:CA022953
single nucleotide variant	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2	Pathogenic	13	32914174	32914174	C	G	reviewed by expert panel	ClinGen:CA022962
single nucleotide variant	NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)	BRCA2	Pathogenic	13	32914274	32914274	G	T	reviewed by expert panel	ClinGen:CA023221
Deletion	NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)	BRCA2	Pathogenic	13	32914289	32914292	TAACC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6027&base_change=del CCAA,ClinGen:CA023256
Deletion	NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)	BRCA2	Pathogenic	13	32914320	32914320	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6056&base_change=del C,ClinGen:CA023274