ウィルムス腫瘍

腫瘍性疾患

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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.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
Deletion	NM_000059.3(BRCA2):c.517-?_631+?del	BRCA2	Pathogenic	13	32900636	32900750	na	na	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs)	BRCA2	Pathogenic	13	32913182	32913183	G	GC	reviewed by expert panel	ClinGen:CA020650
Deletion	NM_000059.4(BRCA2):c.774_775del (p.Glu260fs)	BRCA2	Pathogenic	13	32905147	32905148	CAA	C	reviewed by expert panel	ClinGen:CA025252
Deletion	NM_000059.4(BRCA2):c.6174del (p.Phe2058fs)	BRCA2	Pathogenic	13	32914664	32914664	AT	A	reviewed by expert panel	ClinGen:CA023718
Deletion	NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs)	BRCA2	Pathogenic	13	32915269	32915270	ATG	A	reviewed by expert panel	ClinGen:CA024404
single nucleotide variant	NM_000059.4(BRCA2):c.7008-1G>A	BRCA2	Pathogenic	13	32928997	32928997	G	A	reviewed by expert panel	ClinGen:CA024727