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_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs)	BRCA2	Pathogenic	13	32913386	32913387	AAG	A	reviewed by expert panel	ClinGen:CA020961
Deletion	NM_000059.4(BRCA2):c.4917del (p.His1640fs)	BRCA2	Pathogenic	13	32913409	32913409	TA	T	reviewed by expert panel	ClinGen:CA021003
single nucleotide variant	NM_000059.4(BRCA2):c.491T>A (p.Leu164Ter)	BRCA2	Pathogenic	13	32900394	32900394	T	A	reviewed by expert panel	ClinGen:CA021006
Deletion	NM_000059.4(BRCA2):c.4926_4935del (p.Asn1642fs)	BRCA2	Pathogenic	13	32913414	32913423	GAAAATGTAGA	G	reviewed by expert panel	ClinGen:CA021017
single nucleotide variant	NM_000059.4(BRCA2):c.4933A>T (p.Lys1645Ter)	BRCA2	Pathogenic	13	32913425	32913425	A	T	reviewed by expert panel	ClinGen:CA021026
Deletion	NM_000059.4(BRCA2):c.4935del (p.Glu1646fs)	BRCA2	Pathogenic	13	32913423	32913423	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5163&base_change=del A,ClinGen:CA021030
Deletion	NM_000059.4(BRCA2):c.4940_4941del (p.Thr1647fs)	BRCA2	Pathogenic	13	32913431	32913432	AAC	A	reviewed by expert panel	ClinGen:CA021044
Deletion	NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs)	BRCA2	Pathogenic	13	32913436	32913437	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5175&base_change=del AA,ClinGen:CA021051
Deletion	NM_000059.4(BRCA2):c.4952del (p.Pro1651fs)	BRCA2	Pathogenic	13	32913443	32913443	TC	T	reviewed by expert panel	ClinGen:CA021054
single nucleotide variant	NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)	BRCA2	Pathogenic	13	32913457	32913457	C	A	reviewed by expert panel	ClinGen:CA021066