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
single nucleotide variant	NM_000059.4(BRCA2):c.2372C>A (p.Ser791Ter)	BRCA2	Pathogenic	13	32910864	32910864	C	A	reviewed by expert panel	ClinGen:CA015065
single nucleotide variant	NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter)	BRCA2	Pathogenic	13	32910868	32910868	C	A	reviewed by expert panel	ClinGen:CA015072
Deletion	NM_000059.4(BRCA2):c.2402_2412del (p.Asn801fs)	BRCA2	Pathogenic	13	32910893	32910903	TAACAATTATGA	T	reviewed by expert panel	ClinGen:CA015136
Deletion	NM_000059.4(BRCA2):c.2435del (p.Asn812fs)	BRCA2	Pathogenic	13	32910923	32910923	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2663&base_change=del A,ClinGen:CA015250
Duplication	NM_000059.4(BRCA2):c.2435dup (p.Asn812fs)	BRCA2	Pathogenic	13	32910922	32910923	C	CA	reviewed by expert panel	ClinGen:CA015248
Deletion	NM_000059.4(BRCA2):c.2442del (p.Met815fs)	BRCA2	Pathogenic	13	32910932	32910932	TC	T	reviewed by expert panel	ClinGen:CA015283
Deletion	NM_000059.4(BRCA2):c.2446del (p.Glu816fs)	BRCA2	Pathogenic	13	32910937	32910937	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2674&base_change=del G,ClinGen:CA015301
single nucleotide variant	NM_000059.4(BRCA2):c.244A>T (p.Lys82Ter)	BRCA2	Pathogenic	13	32893390	32893390	A	T	reviewed by expert panel	ClinGen:CA015328
Deletion	NM_000059.4(BRCA2):c.2450del (p.Lys817fs)	BRCA2	Pathogenic	13	32910939	32910939	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2678&base_change=del A,ClinGen:CA015333
single nucleotide variant	NM_000059.4(BRCA2):c.2455C>T (p.Gln819Ter)	BRCA2	Pathogenic	13	32910947	32910947	C	T	reviewed by expert panel	ClinGen:CA015343