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.9117G>A (p.Pro3039=)	BRCA2	Pathogenic	13	32954050	32954050	G	A	reviewed by expert panel	ClinGen:CA025994
Deletion	NM_000059.4(BRCA2):c.9235del (p.Val3079fs)	BRCA2	Pathogenic	13	32954261	32954261	CG	C	reviewed by expert panel	ClinGen:CA026043
Duplication	NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)	BRCA2	Pathogenic	13	32954272	32954273	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9481&base_change=ins A,ClinGen:CA026052
Deletion	NM_000059.4(BRCA2):c.9274del (p.Tyr3092fs)	BRCA2	Pathogenic	13	32968843	32968843	CT	C	reviewed by expert panel	ClinGen:CA026077
single nucleotide variant	NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter)	BRCA2	Pathogenic	13	32968863	32968863	C	A	reviewed by expert panel	ClinGen:CA026093
single nucleotide variant	NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)	BRCA2	Pathogenic	13	32968863	32968863	C	G	reviewed by expert panel	ClinGen:CA026094
single nucleotide variant	NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	BRCA2	Pathogenic	13	32968940	32968940	A	T	reviewed by expert panel	ClinGen:CA026119
single nucleotide variant	NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)	BRCA2	Pathogenic	13	32968949	32968949	G	A	reviewed by expert panel	ClinGen:CA026126
Deletion	NM_000059.4(BRCA2):c.9401del (p.Gly3134fs)	BRCA2	Pathogenic	13	32968969	32968969	AG	A	reviewed by expert panel	ClinGen:CA026141,Breast Cancer Information Core (BIC) (BRCA2):9629&base_change=del G
single nucleotide variant	NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter)	BRCA2	Pathogenic	13	32971056	32971056	G	T	reviewed by expert panel	ClinGen:CA026199