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
Insertion	NM_000059.4(BRCA2):c.6449_6450insTA (p.Lys2150fs)	BRCA2	Pathogenic	13	32914940	32914941	A	AAT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6677&base_change=ins TA,ClinGen:CA024067
Insertion	NM_000059.3(BRCA2):c.6535_6536ins8	BRCA2	Pathogenic	13	32915027	32915028	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):6763&base_change=ins 8
Duplication	NM_000059.4(BRCA2):c.6535dup (p.Val2179fs)	BRCA2	Pathogenic	13	32915026	32915027	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6763&base_change=ins G,ClinGen:CA024149
Deletion	NM_000059.4(BRCA2):c.6591del (p.Glu2198fs)	BRCA2	Pathogenic	13	32915083	32915083	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6819&base_change=del T,ClinGen:CA024195
single nucleotide variant	NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)	BRCA2	Pathogenic	13	32915137	32915137	C	G	reviewed by expert panel	ClinGen:CA024254
Deletion	NM_000059.4(BRCA2):c.6658_6662del (p.Glu2220fs)	BRCA2	Pathogenic	13	32915149	32915153	CAGAAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6886&base_change=del GAAAA,ClinGen:CA024267
single nucleotide variant	NM_000059.4(BRCA2):c.475+3A>T	BRCA2	Pathogenic	13	32900290	32900290	A	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):703+3&base_change=A to T,ClinGen:CA020764
Insertion	NM_000059.4(BRCA2):c.489_490insG (p.Leu164fs)	BRCA2	Pathogenic	13	32900392	32900393	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):717&base_change=ins G,ClinGen:CA020965
Insertion	NM_000059.4(BRCA2):c.7235_7236insG (p.Thr2412_Lys2413insTer)	BRCA2	Pathogenic	13	32929225	32929226	C	CG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7463&base_change=ins G,ClinGen:CA024983
Deletion	NM_000059.4(BRCA2):c.7283del (p.Leu2428fs)	BRCA2	Pathogenic	13	32929272	32929272	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7511&base_change=del T,ClinGen:CA025012