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_007294.4(BRCA1):c.3624dup (p.Leu1209fs)	BRCA1	Pathogenic	17	41243923	41243924	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3741&base_change=ins A,ClinGen:CA268116
Deletion	NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer)	BRCA1	Pathogenic	17	41243922	41243922	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3745&base_change=del T,ClinGen:CA002318,OMIM:113705.0032
Duplication	NM_007294.4(BRCA1):c.3626dup (p.Leu1209fs)	BRCA1	Pathogenic	17	41243921	41243922	T	TA	reviewed by expert panel	ClinGen:CA327883
Deletion	NM_007294.4(BRCA1):c.3628del (p.Glu1210fs)	BRCA1	Pathogenic	17	41243920	41243920	TC	T	reviewed by expert panel	ClinGen:CA002324
single nucleotide variant	NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)	BRCA1	Pathogenic	17	41243908	41243908	C	A	reviewed by expert panel	ClinGen:CA002328
single nucleotide variant	NM_007294.4(BRCA1):c.3647T>G (p.Leu1216Ter)	BRCA1	Pathogenic	17	41243901	41243901	A	C	reviewed by expert panel	ClinGen:CA002334
Duplication	NM_007294.4(BRCA1):c.3649dup (p.Ser1217fs)	BRCA1	Pathogenic	17	41243898	41243899	G	GA	reviewed by expert panel	ClinGen:CA327886
single nucleotide variant	NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)	BRCA1	Pathogenic	17	41243887	41243887	C	A	reviewed by expert panel	ClinGen:CA002345
single nucleotide variant	NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter)	BRCA1	Pathogenic	17	41243884	41243884	C	A	reviewed by expert panel	ClinGen:CA002348
Duplication	NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs)	BRCA1	Pathogenic	17	41243876	41243877	G	GGGAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3790&base_change=ins TTCC,ClinGen:CA002351