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
single nucleotide variant	NM_000059.4(BRCA2):c.9117+1G>T	BRCA2	Pathogenic	13	32954051	32954051	G	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):9345+1&base_change=G to T,ClinGen:CA025990
single nucleotide variant	NM_000059.4(BRCA2):c.9118-2A>G	BRCA2	Pathogenic	13	32954142	32954142	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9346-2&base_change=A to G,ClinGen:CA025996,OMIM:600185.0014
single nucleotide variant	NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter)	BRCA2	Pathogenic	13	32954174	32954174	C	T	reviewed by expert panel	ClinGen:CA026004
single nucleotide variant	NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)	BRCA2	Pathogenic	13	32954180	32954180	C	T	reviewed by expert panel	ClinGen:CA026006
Deletion	NM_000059.4(BRCA2):c.9157del (p.Glu3053fs)	BRCA2	Pathogenic	13	32954181	32954181	CG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9385&base_change=del G,ClinGen:CA026008
Deletion	NM_000059.4(BRCA2):c.9177del (p.Lys3059fs)	BRCA2	Pathogenic	13	32954201	32954201	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9405&base_change=del A,ClinGen:CA026018
single nucleotide variant	NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter)	BRCA2	Pathogenic	13	32954208	32954208	T	A	reviewed by expert panel	ClinGen:CA026019
Duplication	NM_000059.4(BRCA2):c.918dup (p.Ser307Ter)	BRCA2	Pathogenic	13	32906532	32906533	A	AT	reviewed by expert panel	ClinGen:CA026021
single nucleotide variant	NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg)	BRCA2	Likely pathogenic	13	32893237	32893237	T	C	criteria provided, single submitter	ClinGen:CA026029
single nucleotide variant	NM_000059.4(BRCA2):c.9207T>A (p.Cys3069Ter)	BRCA2	Pathogenic	13	32954233	32954233	T	A	reviewed by expert panel	ClinGen:CA026033