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.8557A>T (p.Lys2853Ter)	BRCA2	Pathogenic	13	32945162	32945162	A	T	reviewed by expert panel	ClinGen:CA16042861
single nucleotide variant	NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter)	BRCA2	Pathogenic	13	32910758	32910758	C	T	reviewed by expert panel	ClinGen:CA16043337
single nucleotide variant	NM_000059.4(BRCA2):c.4962T>A (p.Cys1654Ter)	BRCA2	Pathogenic	13	32913454	32913454	T	A	reviewed by expert panel	ClinGen:CA16043338
Deletion	NM_000059.4(BRCA2):c.6014_6017del (p.Asp2005fs)	BRCA2	Pathogenic	13	32914504	32914507	AAGAT	A	reviewed by expert panel	ClinGen:CA16043339
single nucleotide variant	NM_000059.4(BRCA2):c.6550C>T (p.Gln2184Ter)	BRCA2	Pathogenic	13	32915042	32915042	C	T	reviewed by expert panel	ClinGen:CA16043340
Deletion	Single allele	BRCA2	Pathogenic	13	32900715	32915032	na	na	criteria provided, single submitter	-
Deletion	NG_012772.3:g.(69667_84209)_(88292_?)del	BRCA2	Pathogenic	13	32954283	32972908	na	na	criteria provided, single submitter	-
Deletion	NG_012772.3:g.(?_5001)_(88292_?)del	BRCA2	Pathogenic	13	32889617	32972908	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5161_5164del (p.Asn1721fs)	BRCA2	Pathogenic	13	32913651	32913654	TCAAA	T	reviewed by expert panel	ClinGen:CA16044340
single nucleotide variant	NM_000059.4(BRCA2):c.4226T>A (p.Leu1409Ter)	BRCA2	Pathogenic	13	32912718	32912718	T	A	reviewed by expert panel	ClinGen:CA16606423