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
Deletion	NM_007294.4(BRCA1):c.2253_2254del (p.Met751fs)	BRCA1	Pathogenic	17	41245294	41245295	AAC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2372&base_change=del GT,ClinGen:CA001509
single nucleotide variant	NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter)	BRCA1	Pathogenic	17	41245285	41245285	C	A	reviewed by expert panel	ClinGen:CA001514
Deletion	NM_007294.4(BRCA1):c.2263del (p.Glu755fs)	BRCA1	Pathogenic	17	41245285	41245285	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2382&base_change=del G,ClinGen:CA001513
single nucleotide variant	NM_007294.4(BRCA1):c.2275C>T (p.Gln759Ter)	BRCA1	Pathogenic	17	41245273	41245273	G	A	reviewed by expert panel	ClinGen:CA001519
Deletion	NM_007294.4(BRCA1):c.2283_2284del (p.Arg762fs)	BRCA1	Pathogenic	17	41245264	41245265	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2402&base_change=del AA,ClinGen:CA001523
Duplication	NM_007294.4(BRCA1):c.2292_2310dup (p.Leu771delinsArgGluTer)	BRCA1	Pathogenic	17	41245237	41245238	A	ATGAAATACTGCTACTCTCT	reviewed by expert panel	ClinGen:CA327804
single nucleotide variant	NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter)	BRCA1	Pathogenic	17	41245255	41245255	C	A	reviewed by expert panel	ClinGen:CA001525
Deletion	NM_007294.4(BRCA1):c.2308del (p.Ser770fs)	BRCA1	Pathogenic	17	41245240	41245240	GA	G	reviewed by expert panel	ClinGen:CA001535
single nucleotide variant	NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)	BRCA1	Pathogenic	17	41245239	41245239	G	T	reviewed by expert panel	ClinGen:CA001536
Indel	NM_007294.4(BRCA1):c.230delinsGTCAACTTGTT (p.Thr77fs)	BRCA1	Pathogenic	17	41256956	41256956	G	AACAAGTTGAC	reviewed by expert panel	ClinGen:CA327807