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.5148T>G (p.Tyr1716Ter)	BRCA1	Pathogenic	17	41215895	41215895	A	C	reviewed by expert panel	ClinGen:CA003272
single nucleotide variant	NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)	BRCA1	Pathogenic	17	41251825	41251825	G	A	reviewed by expert panel	ClinGen:CA003273
Deletion	NM_007294.4(BRCA1):c.514del (p.Gln172fs)	BRCA1	Pathogenic	17	41251825	41251825	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):633&base_change=del C,ClinGen:CA003274
Deletion	NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)	BRCA1	Pathogenic	17	41215893	41215893	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5269&base_change=del T,ClinGen:CA003275
single nucleotide variant	NM_007294.4(BRCA1):c.5152+1G>T	BRCA1	Pathogenic	17	41215890	41215890	C	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5271+1&base_change=G to T,BRCA1-HCI:BRCA1_00142,ClinGen:CA003281
Duplication	NM_007294.4(BRCA1):c.5152+2dup	BRCA1	Pathogenic	17	41215888	41215889	T	TA	criteria provided, single submitter	ClinGen:CA003283
single nucleotide variant	NM_007294.4(BRCA1):c.5152+4A>G	BRCA1	Likely pathogenic	17	41215887	41215887	T	C	criteria provided, single submitter	ClinGen:CA003287
single nucleotide variant	NM_007294.4(BRCA1):c.5152+5G>A	BRCA1	Pathogenic/Likely pathogenic	17	41215886	41215886	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5271+5&base_change=G to A,ClinGen:CA003288
single nucleotide variant	NM_007294.4(BRCA1):c.5153-1G>A	BRCA1	Pathogenic	17	41215391	41215391	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5272-1&base_change=G to A,ClinGen:CA003295
single nucleotide variant	NM_007294.4(BRCA1):c.5153-1G>T	BRCA1	Pathogenic	17	41215391	41215391	C	A	criteria provided, single submitter	ClinGen:CA003298