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.5909C>A (p.Ser1970Ter)	BRCA2	Pathogenic	13	32914401	32914401	C	A	reviewed by expert panel	ClinGen:CA023362
single nucleotide variant	NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter)	BRCA2	Pathogenic	13	32914472	32914472	C	T	reviewed by expert panel	ClinGen:CA023442
Deletion	NM_000059.4(BRCA2):c.6011_6017del (p.Glu2004fs)	BRCA2	Pathogenic	13	32914499	32914505	AATAGAAG	A	reviewed by expert panel	ClinGen:CA023508
Duplication	NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)	BRCA2	Pathogenic	13	32914515	32914516	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6252&base_change=ins G,ClinGen:CA023532
single nucleotide variant	NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)	BRCA2	Pathogenic	13	32914529	32914529	A	T	reviewed by expert panel	ClinGen:CA023562
single nucleotide variant	NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter)	BRCA2	Pathogenic	13	32914698	32914698	T	G	reviewed by expert panel	ClinGen:CA023746
Indel	NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)	BRCA2	Pathogenic	13	32914759	32914761	GCA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6495&base_change=del GCA ins C,ClinGen:CA023794
single nucleotide variant	NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)	BRCA2	Pathogenic/Likely pathogenic	13	32900750	32900750	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023872
Deletion	NM_000059.4(BRCA2):c.6333_6337del (p.Arg2112fs)	BRCA2	Pathogenic	13	32914823	32914827	TAAGAG	T	reviewed by expert panel	ClinGen:CA023925
Duplication	NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs)	BRCA2	Pathogenic	13	32914859	32914860	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6601&base_change=ins A,ClinGen:CA023957