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.80+2T>G	BRCA1	Pathogenic	17	41276032	41276032	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):199+2&base_change=T to G,ClinGen:CA003887
single nucleotide variant	NM_007294.4(BRCA1):c.80+5G>A	BRCA1	Pathogenic	17	41276029	41276029	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):199+5&base_change=G to A,ClinGen:CA003889
Insertion	NM_007294.4(BRCA1):c.1893_1894insT (p.Ser632Ter)	BRCA1	Pathogenic	17	41245654	41245655	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2012&base_change=ins T,ClinGen:CA001231
Insertion	NM_007294.4(BRCA1):c.2038_2039insCC (p.Lys680fs)	BRCA1	Pathogenic	17	41245509	41245510	T	TGG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2157&base_change=ins CC,ClinGen:CA001354
Insertion	NM_007294.4(BRCA1):c.2077_2078insTA (p.Asp693fs)	BRCA1	Pathogenic	17	41245470	41245471	T	TTA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2196&base_change=ins TA,ClinGen:CA001375
Insertion	NM_007294.4(BRCA1):c.2098_2099insA (p.Leu700fs)	BRCA1	Pathogenic	17	41245449	41245450	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2217&base_change=ins A,ClinGen:CA001388
Duplication	NM_007294.4(BRCA1):c.2188dup (p.Glu730fs)	BRCA1	Pathogenic	17	41245359	41245360	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2307&base_change=ins G,ClinGen:CA001459
Deletion	NM_007294.4(BRCA1):c.2214del (p.Val740fs)	BRCA1	Pathogenic	17	41245334	41245334	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2333&base_change=del T,ClinGen:CA001482
Insertion	NM_007294.4(BRCA1):c.2215_2216insCT (p.Lys739fs)	BRCA1	Pathogenic	17	41245332	41245333	T	TAG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2334&base_change=ins CT,ClinGen:CA001483
Duplication	NM_007294.4(BRCA1):c.2217dup (p.Val740fs)	BRCA1	Pathogenic	17	41245330	41245331	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2336&base_change=ins A,ClinGen:CA001487