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_024426.6(WT1):c.1447+4C>T	WT1	Pathogenic/Likely pathogenic	11	32413514	32413514	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016600,OMIM:607102.0018
single nucleotide variant	NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)	WT1	Pathogenic	11	32414251	32414251	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016279,OMIM:607102.0026
Deletion	NM_000059.4(BRCA2):c.7004_7007+2del	BRCA2	Pathogenic	13	32921029	32921034	CTTTCGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA325946,OMIM:600185.0001
Deletion	NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)	BRCA2	Pathogenic	13	32914767	32914768	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6503&base_change=del TT,ClinGen:CA023808,OMIM:600185.0002
Deletion	NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	BRCA2	Pathogenic	13	32915083	32915084	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6819&base_change=del TG,ClinGen:CA024193,OMIM:600185.0003
Deletion	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2	Pathogenic	13	32911298	32911301	TAAAC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3034&base_change=del AAAC,Breast Cancer Information Core (BIC) (BRCA2):3036&base_change=del ACAA,ClinGen:CA016424,OMIM:600185.0006,OMIM:600185.0016
Deletion	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2	Pathogenic	13	32914438	32914438	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6174&base_change=del T,ClinGen:CA023403,OMIM:600185.0005,OMIM:600185.0009
Deletion	NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)	BRCA2	Pathogenic	13	32905141	32905145	ACAAAT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):995&base_change=del CAAAT,Breast Cancer Information Core (BIC) (BRCA2):999&base_change=del TCAAA,ClinGen:CA025222,OMIM:600185.0010
single nucleotide variant	NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)	BRCA2	Pathogenic	13	32937504	32937504	C	G	reviewed by expert panel	ClinGen:CA025480,OMIM:600185.0025
Deletion	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Pathogenic	13	32903605	32903606	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):886&base_change=del GT,ClinGen:CA024188,OMIM:600185.0027