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
Duplication	NM_007294.4(BRCA1):c.2001dup (p.Leu668fs)	BRCA1	Pathogenic	17	41245546	41245547	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2120&base_change=ins A,ClinGen:CA001334
Deletion	NM_007294.4(BRCA1):c.2101_2102del (p.Lys701fs)	BRCA1	Pathogenic	17	41245446	41245447	CTT	C	reviewed by expert panel	ClinGen:CA001391
Deletion	NM_007294.4(BRCA1):c.368del (p.Ser123fs)	BRCA1	Pathogenic	17	41256212	41256212	AG	A	reviewed by expert panel	ClinGen:CA002360
Deletion	NM_007294.4(BRCA1):c.3759del (p.Lys1254fs)	BRCA1	Pathogenic	17	41243789	41243789	TA	T	reviewed by expert panel	ClinGen:CA002412
single nucleotide variant	NM_007294.4(BRCA1):c.4072G>T (p.Glu1358Ter)	BRCA1	Pathogenic	17	41243476	41243476	C	A	reviewed by expert panel	ClinGen:CA002602
Duplication	NM_007294.4(BRCA1):c.4348dup (p.Ser1450fs)	BRCA1	Pathogenic	17	41234429	41234430	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4467&base_change=ins T,ClinGen:CA002781
Deletion	NM_007294.4(BRCA1):c.4587_4590del (p.Ile1529fs)	BRCA1	Pathogenic	17	41226433	41226436	CCTTA	C	reviewed by expert panel	ClinGen:CA002917
single nucleotide variant	NM_007294.4(BRCA1):c.4986+5G>A	BRCA1	Pathogenic/Likely pathogenic	17	41222940	41222940	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+5&base_change=G to A,ClinGen:CA003124
single nucleotide variant	NM_007294.4(BRCA1):c.5193+1G>A	BRCA1	Pathogenic	17	41215349	41215349	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5312+1&base_change=G to A,ClinGen:CA003336
Insertion	NM_007294.4(BRCA1):c.5268_5269insC (p.Asp1757fs)	BRCA1	Pathogenic	17	41209077	41209078	C	CG	reviewed by expert panel	ClinGen:CA003411