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_000059.4(BRCA2):c.7097dup (p.Thr2367fs)	BRCA2	Pathogenic	13	32929086	32929087	C	CT	reviewed by expert panel	ClinGen:CA193532
Deletion	NM_000059.4(BRCA2):c.7301del (p.Lys2434fs)	BRCA2	Pathogenic	13	32929288	32929288	CA	C	reviewed by expert panel	ClinGen:CA025019
single nucleotide variant	NM_000059.4(BRCA2):c.7718T>G (p.Leu2573Ter)	BRCA2	Pathogenic	13	32931979	32931979	T	G	reviewed by expert panel	ClinGen:CA025244
single nucleotide variant	NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)	BRCA2	Likely pathogenic	13	32932063	32932063	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025278
single nucleotide variant	NM_000059.4(BRCA2):c.8332-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32944538	32944538	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025584
single nucleotide variant	NM_000059.4(BRCA2):c.8875G>T (p.Glu2959Ter)	BRCA2	Pathogenic	13	32953574	32953574	G	T	reviewed by expert panel	ClinGen:CA025858
Duplication	NM_000059.4(BRCA2):c.8996dup (p.Leu3000fs)	BRCA2	Pathogenic	13	32953928	32953929	C	CT	reviewed by expert panel	ClinGen:CA192553
Deletion	NM_000059.4(BRCA2):c.9025del (p.Tyr3009fs)	BRCA2	Pathogenic	13	32953956	32953956	AT	A	reviewed by expert panel	ClinGen:CA025932
Deletion	NM_000059.4(BRCA2):c.9262del (p.Ala3088fs)	BRCA2	Pathogenic	13	32968831	32968831	TG	T	reviewed by expert panel	ClinGen:CA026071
Indel	NM_000059.4(BRCA2):c.9522_9523delinsAT (p.Asn3174_Glu3175delinsLysTer)	BRCA2	Pathogenic	13	32971055	32971056	TG	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA026197