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
Deletion	NM_007294.4(BRCA1):c.2952del (p.Ile986fs)	BRCA1	Pathogenic	17	41244596	41244596	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3071&base_change=del T,ClinGen:CA001924
Duplication	NM_007294.4(BRCA1):c.2952dup (p.Pro985fs)	BRCA1	Pathogenic	17	41244595	41244596	G	GA	reviewed by expert panel	ClinGen:CA327847
Deletion	NM_007294.4(BRCA1):c.2955del (p.Ile986fs)	BRCA1	Pathogenic	17	41244593	41244593	TG	T	reviewed by expert panel	ClinGen:CA001925
single nucleotide variant	NM_007294.4(BRCA1):c.2963C>A (p.Ser988Ter)	BRCA1	Pathogenic	17	41244585	41244585	G	T	reviewed by expert panel	ClinGen:CA001927
Deletion	NM_007294.4(BRCA1):c.2967del (p.Phe989fs)	BRCA1	Pathogenic	17	41244581	41244581	CA	C	reviewed by expert panel	ClinGen:CA001929
Deletion	NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs)	BRCA1	Pathogenic	17	41244569	41244575	ATTTAGTT	A	reviewed by expert panel	ClinGen:CA001931
Deletion	NM_007294.4(BRCA1):c.2974_2990del (p.Thr992fs)	BRCA1	Pathogenic	17	41244558	41244574	ATTTTTCTTACATTTAGT	A	reviewed by expert panel	ClinGen:CA001932
Deletion	NM_007294.4(BRCA1):c.2980del (p.Cys994fs)	BRCA1	Pathogenic	17	41244568	41244568	CA	C	reviewed by expert panel	ClinGen:CA001936,Breast Cancer Information Core (BIC) (BRCA1):3099&base_change=del T
Duplication	NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)	BRCA1	Pathogenic	17	41244557	41244558	A	ATT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3109&base_change=ins AA,ClinGen:CA001942
Deletion	NM_007294.4(BRCA1):c.2990del (p.Asn997fs)	BRCA1	Pathogenic	17	41244558	41244558	AT	A	reviewed by expert panel	ClinGen:CA001943