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.5645C>A (p.Ser1882Ter)	BRCA2	Pathogenic	13	32914137	32914137	C	A	reviewed by expert panel	ClinGen:CA022818
single nucleotide variant	NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter)	BRCA2	Pathogenic	13	32914147	32914147	C	A	reviewed by expert panel	ClinGen:CA022870
Duplication	NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter)	BRCA2	Pathogenic	13	32914172	32914173	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5909&base_change=ins A,ClinGen:CA022953
single nucleotide variant	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2	Pathogenic	13	32914174	32914174	C	G	reviewed by expert panel	ClinGen:CA022962
single nucleotide variant	NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)	BRCA2	Pathogenic	13	32914274	32914274	G	T	reviewed by expert panel	ClinGen:CA023221
Deletion	NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)	BRCA2	Pathogenic	13	32914289	32914292	TAACC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6027&base_change=del CCAA,ClinGen:CA023256
Deletion	NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)	BRCA2	Pathogenic	13	32914320	32914320	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6056&base_change=del C,ClinGen:CA023274
single nucleotide variant	NM_000059.4(BRCA2):c.582G>A (p.Trp194Ter)	BRCA2	Pathogenic	13	32900701	32900701	G	A	reviewed by expert panel	ClinGen:CA023281
Deletion	NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)	BRCA2	Pathogenic	13	32914340	32914343	TGTTA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6076&base_change=del GTTA,Breast Cancer Information Core (BIC) (BRCA2):6079&base_change=del AGTT,ClinGen:CA023297
single nucleotide variant	NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter)	BRCA2	Pathogenic	13	32914347	32914347	T	A	reviewed by expert panel	ClinGen:CA023306