遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_007294.4(BRCA1):c.1141A>T (p.Lys381Ter)	BRCA1	Pathogenic	17	41246407	41246407	T	A	reviewed by expert panel	ClinGen:CA000760
Duplication	NM_007294.4(BRCA1):c.1152dup (p.Trp385fs)	BRCA1	Pathogenic	17	41246395	41246396	A	AC	reviewed by expert panel	ClinGen:CA327721
Deletion	NM_007294.4(BRCA1):c.1158_1159del (p.Ser387fs)	BRCA1	Pathogenic	17	41246389	41246390	GAA	G	reviewed by expert panel	ClinGen:CA000764
Duplication	NM_007294.4(BRCA1):c.1159dup (p.Ser387fs)	BRCA1	Pathogenic	17	41246388	41246389	G	GA	reviewed by expert panel	ClinGen:CA327722
single nucleotide variant	NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser)	BRCA1	Pathogenic/Likely pathogenic	17	41267762	41267762	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000765
single nucleotide variant	NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)	BRCA1	Pathogenic	17	41267762	41267762	A	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00113,ClinGen:CA000766
single nucleotide variant	NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41267762	41267762	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000767
Deletion	NM_007294.4(BRCA1):c.1165del (p.Ser389fs)	BRCA1	Pathogenic	17	41246383	41246383	CT	C	reviewed by expert panel	ClinGen:CA000770,Breast Cancer Information Core (BIC) (BRCA1):1284&base_change=del A
Deletion	NM_007294.4(BRCA1):c.1166del (p.Ser389fs)	BRCA1	Pathogenic	17	41246382	41246382	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1285&base_change=del G,ClinGen:CA000771
Deletion	NM_007294.4(BRCA1):c.1175_1178del (p.Leu392fs)	BRCA1	Pathogenic	17	41246370	41246373	TAACA	T	reviewed by expert panel	ClinGen:CA000775