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.818C>G (p.Ser273Ter)	BRCA2	Pathogenic	13	32906433	32906433	C	G	reviewed by expert panel	ClinGen:CA025502
single nucleotide variant	NM_000059.4(BRCA2):c.8191C>T (p.Gln2731Ter)	BRCA2	Pathogenic	13	32937530	32937530	C	T	reviewed by expert panel	ClinGen:CA025503
single nucleotide variant	NM_000059.4(BRCA2):c.8195T>G (p.Leu2732Ter)	BRCA2	Pathogenic	13	32937534	32937534	T	G	reviewed by expert panel	ClinGen:CA025504
Duplication	NM_000059.4(BRCA2):c.8206dup (p.Leu2736fs)	BRCA2	Pathogenic	13	32937541	32937542	T	TC	reviewed by expert panel	ClinGen:CA025513
Deletion	NM_000059.4(BRCA2):c.8207del (p.Leu2736fs)	BRCA2	Pathogenic	13	32937546	32937546	CT	C	reviewed by expert panel	ClinGen:CA025515
Deletion	NM_000059.4(BRCA2):c.8234_8237del (p.Leu2745fs)	BRCA2	Pathogenic	13	32937570	32937573	AGACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8462&base_change=del TGAC,ClinGen:CA025532
Duplication	NM_000059.4(BRCA2):c.8234dup (p.Thr2746fs)	BRCA2	Pathogenic	13	32937572	32937573	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8462&base_change=ins T,ClinGen:CA025531
Deletion	NM_000059.4(BRCA2):c.8237_8238del (p.Thr2746fs)	BRCA2	Pathogenic	13	32937575	32937576	GAC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8465&base_change=del CA,ClinGen:CA025533
single nucleotide variant	NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)	BRCA2	Pathogenic	13	32937582	32937582	G	A	reviewed by expert panel	ClinGen:CA025535
Deletion	NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)	BRCA2	Pathogenic	13	32937585	32937586	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8474&base_change=del AG,Breast Cancer Information Core (BIC) (BRCA2):8475&base_change=del GA,ClinGen:CA025536