家族性膵がん - MGenReviews

家族性膵がん

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.4986+4A>C	BRCA1	Pathogenic/Likely pathogenic	17	41222941	41222941	T	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+4&base_change=A to C,ClinGen:CA003122
single nucleotide variant	NM_007294.4(BRCA1):c.4986+6T>C	BRCA1	Pathogenic/Likely pathogenic	17	41222939	41222939	A	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+6&base_change=T to C,ClinGen:CA003127
Deletion	NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)	BRCA1	Pathogenic	17	41219666	41219669	ATTAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5146&base_change=del TAAC,Breast Cancer Information Core (BIC) (BRCA1):5147&base_change=del AACT,Breast Cancer Information Core (BIC) (BRCA1):5149&base_change=del CTAA,ClinGen:CA003158
single nucleotide variant	NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41219633	41219633	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003182,UniProtKB:P38398#VAR_063904
single nucleotide variant	NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)	BRCA1	Pathogenic	17	41219631	41219631	T	A	reviewed by expert panel	ClinGen:CA003184
single nucleotide variant	NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)	BRCA1	Pathogenic/Likely pathogenic	17	41219627	41219627	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003188
single nucleotide variant	NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)	BRCA1	Pathogenic/Likely pathogenic	17	41219627	41219627	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003190,UniProtKB:P38398#VAR_070500
single nucleotide variant	NM_007294.4(BRCA1):c.5074+1G>A	BRCA1	Pathogenic	17	41219624	41219624	C	T	reviewed by expert panel	ClinGen:CA003193,Breast Cancer Information Core (BIC) (BRCA1):5193+1&base_change=G to A,BRCA1-HCI:BRCA1_00122
single nucleotide variant	NM_007294.4(BRCA1):c.5074+1G>T	BRCA1	Pathogenic	17	41219624	41219624	C	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5193+1&base_change=G to T,ClinGen:CA003194
single nucleotide variant	NM_007294.4(BRCA1):c.5074+2T>C	BRCA1	Pathogenic	17	41219623	41219623	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5193+2&base_change=T to C,ClinGen:CA003196