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.2142del (p.Asn714fs)	BRCA1	Pathogenic	17	41245406	41245406	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2261&base_change=del T,ClinGen:CA001438
single nucleotide variant	NM_007294.4(BRCA1):c.2155A>T (p.Lys719Ter)	BRCA1	Pathogenic	17	41245393	41245393	T	A	reviewed by expert panel	ClinGen:CA001443
Deletion	NM_007294.4(BRCA1):c.2155_2168del (p.Lys719fs)	BRCA1	Pathogenic	17	41245380	41245393	ATTGACAAATTCTTT	A	reviewed by expert panel	ClinGen:CA001441
Duplication	NM_007294.4(BRCA1):c.2157dup (p.Glu720fs)	BRCA1	Pathogenic	17	41245390	41245391	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2274&base_change=ins A,ClinGen:CA267881
Deletion	NM_007294.4(BRCA1):c.2166del (p.Asn723fs)	BRCA1	Pathogenic	17	41245382	41245382	TG	T	reviewed by expert panel	ClinGen:CA001446
Deletion	NM_007294.4(BRCA1):c.2174del (p.Ser725fs)	BRCA1	Pathogenic	17	41245374	41245374	GC	G	reviewed by expert panel	ClinGen:CA001451
Deletion	NM_007294.4(BRCA1):c.2176_2177del (p.Leu726fs)	BRCA1	Pathogenic	17	41245371	41245372	AAG	A	reviewed by expert panel	ClinGen:CA001453
Deletion	NM_007294.4(BRCA1):c.2176del (p.Leu726fs)	BRCA1	Pathogenic	17	41245372	41245372	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2295&base_change=del C,ClinGen:CA001454
single nucleotide variant	NM_007294.4(BRCA1):c.2188G>T (p.Glu730Ter)	BRCA1	Pathogenic	17	41245360	41245360	C	A	reviewed by expert panel	ClinGen:CA001461
Deletion	NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)	BRCA1	Pathogenic	17	41245347	41245360	TTTCTCTTCTTTTTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2307&base_change=del GAAAAAGAAGAGAA,ClinGen:CA001460