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
Duplication	NM_000059.4(BRCA2):c.170dup (p.Tyr57Ter)	BRCA2	Pathogenic	13	32893315	32893316	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):398&base_change=ins A,ClinGen:CA012940
Deletion	NM_000059.4(BRCA2):c.1711_1715del (p.Val572fs)	BRCA2	Pathogenic	13	32907325	32907329	ATTCTG	A	reviewed by expert panel	ClinGen:CA012973
single nucleotide variant	NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter)	BRCA2	Pathogenic	13	32893317	32893317	C	G	reviewed by expert panel	ClinGen:CA012997
single nucleotide variant	NM_000059.4(BRCA2):c.172G>T (p.Glu58Ter)	BRCA2	Pathogenic	13	32893318	32893318	G	T	reviewed by expert panel	ClinGen:CA013013
single nucleotide variant	NM_000059.4(BRCA2):c.1748T>A (p.Leu583Ter)	BRCA2	Pathogenic	13	32907363	32907363	T	A	reviewed by expert panel	ClinGen:CA013061
Deletion	NM_000059.4(BRCA2):c.1748del (p.Thr582_Leu583insTer)	BRCA2	Pathogenic	13	32907361	32907361	CT	C	reviewed by expert panel	ClinGen:CA013054
Deletion	NM_000059.4(BRCA2):c.1754del (p.Lys585fs)	BRCA2	Pathogenic	13	32907365	32907365	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1982&base_change=del A,ClinGen:CA013071
Deletion	NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs)	BRCA2	Pathogenic	13	32907376	32907379	CAAAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1991&base_change=del ATAA,ClinGen:CA013129
Deletion	NM_000059.4(BRCA2):c.1765_1766del (p.Lys589fs)	BRCA2	Pathogenic	13	32907380	32907381	TAA	T	reviewed by expert panel	ClinGen:CA013142
single nucleotide variant	NM_000059.4(BRCA2):c.1789G>T (p.Glu597Ter)	BRCA2	Pathogenic	13	32907404	32907404	G	T	reviewed by expert panel	ClinGen:CA013220