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.9275_9278del (p.Tyr3092fs)	BRCA2	Pathogenic	13	32968843	32968846	CTATT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9503&base_change=del ATTT,ClinGen:CA026079
single nucleotide variant	NM_000059.4(BRCA2):c.9276T>G (p.Tyr3092Ter)	BRCA2	Pathogenic	13	32968845	32968845	T	G	reviewed by expert panel	ClinGen:CA026083
single nucleotide variant	NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)	BRCA2	Pathogenic/Likely pathogenic	13	32968854	32968854	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA026086
single nucleotide variant	NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter)	BRCA2	Pathogenic	13	32968855	32968855	G	T	reviewed by expert panel	ClinGen:CA026089
single nucleotide variant	NM_000059.4(BRCA2):c.9291T>A (p.Cys3097Ter)	BRCA2	Pathogenic	13	32968860	32968860	T	A	reviewed by expert panel	ClinGen:CA026091
single nucleotide variant	NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)	BRCA2	Pathogenic	13	32893238	32893238	G	A	reviewed by expert panel	ClinGen:CA026096
Deletion	NM_000059.4(BRCA2):c.930_931del (p.Cys311fs)	BRCA2	Pathogenic	13	32906544	32906545	TTA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1158&base_change=del AT,ClinGen:CA026100
Deletion	NM_000059.4(BRCA2):c.9310_9311del (p.Lys3104fs)	BRCA2	Pathogenic	13	32968878	32968879	TAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9538&base_change=del AA,ClinGen:CA026102
single nucleotide variant	NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)	BRCA2	Pathogenic	13	32968886	32968886	G	A	reviewed by expert panel	ClinGen:CA026103
single nucleotide variant	NM_000059.4(BRCA2):c.9331G>T (p.Glu3111Ter)	BRCA2	Pathogenic	13	32968900	32968900	G	T	reviewed by expert panel	ClinGen:CA026106