遺伝性乳がん・卵巣がん症候群

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.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
single nucleotide variant	NM_000059.4(BRCA2):c.8755-1G>A	BRCA2	Pathogenic	13	32953453	32953453	G	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8983-1&base_change=G to A,ClinGen:CA025812
single nucleotide variant	NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter)	BRCA2	Pathogenic	13	32953568	32953568	C	T	reviewed by expert panel	ClinGen:CA025856
Deletion	NM_000059.4(BRCA2):c.8904del (p.Val2969fs)	BRCA2	Pathogenic	13	32953602	32953602	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9132&base_change=del C,ClinGen:CA025865