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.809C>G (p.Ser270Ter)	BRCA2	Pathogenic	13	32906424	32906424	C	G	reviewed by expert panel	ClinGen:CA025454
Deletion	NM_000059.4(BRCA2):c.8130del (p.Ser2710fs)	BRCA2	Pathogenic	13	32937469	32937469	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8358&base_change=del T,ClinGen:CA025465
single nucleotide variant	NM_000059.4(BRCA2):c.8140C>T (p.Gln2714Ter)	BRCA2	Pathogenic	13	32937479	32937479	C	T	reviewed by expert panel	ClinGen:CA025469
single nucleotide variant	NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)	BRCA2	Pathogenic	13	32937506	32937506	G	C	reviewed by expert panel	ClinGen:CA025482
single nucleotide variant	NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)	BRCA2	Pathogenic	13	32937507	32937507	A	C	reviewed by expert panel	ClinGen:CA025483
single nucleotide variant	NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)	BRCA2	Likely pathogenic	13	32937510	32937510	G	T	criteria provided, single submitter	ClinGen:CA025486
Duplication	NM_000059.4(BRCA2):c.8172_8175dup (p.Tyr2726fs)	BRCA2	Pathogenic	13	32937507	32937508	A	ATGGG	reviewed by expert panel	ClinGen:CA025489
single nucleotide variant	NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)	BRCA2	Pathogenic	13	32937514	32937514	G	A	reviewed by expert panel	ClinGen:CA025490
single nucleotide variant	NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)	BRCA2	Pathogenic/Likely pathogenic	13	32937516	32937516	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025491
single nucleotide variant	NM_000059.4(BRCA2):c.818C>A (p.Ser273Ter)	BRCA2	Pathogenic	13	32906433	32906433	C	A	reviewed by expert panel	ClinGen:CA025501