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.9007G>T (p.Gly3003Ter)	BRCA2	Pathogenic	13	32953940	32953940	G	T	reviewed by expert panel	ClinGen:CA025922
Deletion	NM_000059.4(BRCA2):c.9016_9017del (p.Tyr3006fs)	BRCA2	Pathogenic	13	32953948	32953949	GAT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9243&base_change=del AT,Breast Cancer Information Core (BIC) (BRCA2):9244&base_change=del TA,ClinGen:CA025926
single nucleotide variant	NM_000059.4(BRCA2):c.9018C>A (p.Tyr3006Ter)	BRCA2	Pathogenic	13	32953951	32953951	C	A	reviewed by expert panel	ClinGen:CA025930
Insertion	NM_000059.4(BRCA2):c.9018_9019insTCTA (p.Arg3007fs)	BRCA2	Pathogenic	13	32953951	32953952	C	CTCTA	reviewed by expert panel	ClinGen:CA025929
Duplication	NM_000059.4(BRCA2):c.901dup (p.Asp301fs)	BRCA2	Pathogenic	13	32906515	32906516	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1128&base_change=ins G,ClinGen:CA025923
Deletion	NM_000059.4(BRCA2):c.9027del (p.His3010fs)	BRCA2	Pathogenic	13	32953960	32953960	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9255&base_change=del T,ClinGen:CA025935
single nucleotide variant	NM_000059.4(BRCA2):c.9041C>A (p.Ser3014Ter)	BRCA2	Pathogenic	13	32953974	32953974	C	A	reviewed by expert panel	ClinGen:CA025939
Deletion	NM_000059.4(BRCA2):c.9054_9055del (p.Ser3018fs)	BRCA2	Pathogenic	13	32953987	32953988	GTA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9282&base_change=del TA,ClinGen:CA025945
Deletion	NM_000059.4(BRCA2):c.9057del (p.Lys3019fs)	BRCA2	Pathogenic	13	32953988	32953988	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9285&base_change=del A,ClinGen:CA025947
Deletion	NM_000059.4(BRCA2):c.9063_9078del (p.Glu3021fs)	BRCA2	Pathogenic	13	32953996	32954011	AAAGAGCTAACATACAG	A	reviewed by expert panel	ClinGen:CA025954