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.2678dup (p.Lys894fs)	BRCA1	Pathogenic	17	41244869	41244870	C	CT	reviewed by expert panel	ClinGen:CA10589825
single nucleotide variant	NM_007294.4(BRCA1):c.2675T>G (p.Leu892Ter)	BRCA1	Pathogenic	17	41244873	41244873	A	C	reviewed by expert panel	ClinGen:CA10589826
Duplication	NM_007294.4(BRCA1):c.2652dup (p.Phe885fs)	BRCA1	Pathogenic	17	41244895	41244896	A	AT	reviewed by expert panel	ClinGen:CA10589827
Deletion	NM_007294.4(BRCA1):c.2649_2650del (p.Thr884fs)	BRCA1	Pathogenic	17	41244898	41244899	GTT	G	reviewed by expert panel	ClinGen:CA10589828
Insertion	NM_007294.4(BRCA1):c.2648_2649insGGCA (p.Thr884fs)	BRCA1	Pathogenic	17	41244899	41244900	T	TTGCC	reviewed by expert panel	ClinGen:CA10589829
Deletion	NM_007294.4(BRCA1):c.2637del (p.Glu880fs)	BRCA1	Pathogenic	17	41244911	41244911	CT	C	reviewed by expert panel	ClinGen:CA10589830
Deletion	NM_007294.4(BRCA1):c.2617del (p.Ser873fs)	BRCA1	Pathogenic	17	41244931	41244931	GA	G	reviewed by expert panel	ClinGen:CA10589831
Deletion	NM_007294.4(BRCA1):c.2587del (p.Val863fs)	BRCA1	Pathogenic	17	41244961	41244961	AC	A	reviewed by expert panel	ClinGen:CA10589832
Insertion	NM_007294.4(BRCA1):c.2577_2578insTT (p.Thr860fs)	BRCA1	Pathogenic	17	41244970	41244971	T	TAA	reviewed by expert panel	ClinGen:CA10589833
Deletion	NM_007294.4(BRCA1):c.2552_2553del (p.Glu851fs)	BRCA1	Pathogenic	17	41244995	41244996	GTT	G	reviewed by expert panel	ClinGen:CA10589834