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
Deletion	NM_000059.4(BRCA2):c.5692del (p.Asp1898fs)	BRCA2	Pathogenic	13	32914183	32914183	TG	T	reviewed by expert panel	ClinGen:CA022994
Deletion	NM_000059.4(BRCA2):c.5842del (p.Cys1948fs)	BRCA2	Pathogenic	13	32914333	32914333	CT	C	reviewed by expert panel	ClinGen:CA023291
Duplication	NM_000059.4(BRCA2):c.6018_6019dup (p.Thr2007fs)	BRCA2	Pathogenic	13	32914509	32914510	G	GTA	reviewed by expert panel	ClinGen:CA023526
Deletion	NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs)	BRCA2	Pathogenic	13	32914551	32914554	GAACA	G	reviewed by expert panel	ClinGen:CA023582
Deletion	NM_000059.4(BRCA2):c.635_636del (p.Arg212fs)	BRCA2	Pathogenic	13	32903582	32903583	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):862&base_change=del AG,ClinGen:CA023948
Deletion	NM_000059.4(BRCA2):c.6392_6396del (p.Lys2131fs)	BRCA2	Pathogenic	13	32914881	32914885	TTTAAA	T	reviewed by expert panel	ClinGen:CA023976
Deletion	NM_000059.4(BRCA2):c.6405_6408del (p.Asn2135fs)	BRCA2	Pathogenic	13	32914896	32914899	AACTT	A	reviewed by expert panel	ClinGen:CA023996
Deletion	NM_000059.4(BRCA2):c.6444del (p.Ile2149fs)	BRCA2	Pathogenic	13	32914936	32914936	CT	C	reviewed by expert panel	ClinGen:CA024048
single nucleotide variant	NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)	BRCA2	Pathogenic	13	32914979	32914979	C	T	reviewed by expert panel	ClinGen:CA024103
single nucleotide variant	NM_000059.4(BRCA2):c.6586A>T (p.Lys2196Ter)	BRCA2	Pathogenic	13	32915078	32915078	A	T	reviewed by expert panel	ClinGen:CA024190