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
Duplication	NM_000059.4(BRCA2):c.8940dup (p.Glu2981fs)	BRCA2	Pathogenic	13	32953632	32953633	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9168&base_change=ins A,ClinGen:CA025879
Duplication	NM_000059.4(BRCA2):c.8946dup (p.Asp2983fs)	BRCA2	Pathogenic	13	32953640	32953641	G	GA	reviewed by expert panel	ClinGen:CA025883,Breast Cancer Information Core (BIC) (BRCA2):9174&base_change=ins A
single nucleotide variant	NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter)	BRCA2	Pathogenic	13	32953650	32953650	C	G	reviewed by expert panel	ClinGen:CA025886
single nucleotide variant	NM_000059.4(BRCA2):c.8953+1G>T	BRCA2	Pathogenic	13	32953653	32953653	G	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9181+1&base_change=G to T,ClinGen:CA025890
single nucleotide variant	NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)	BRCA2	Pathogenic/Likely pathogenic	13	32953937	32953937	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025920
Deletion	NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)	BRCA2	Pathogenic	13	32953958	32953962	TTATCA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9254&base_change=del ATCAT,ClinGen:CA025933
Insertion	NM_000059.4(BRCA2):c.9060_9061insTT (p.Glu3021fs)	BRCA2	Pathogenic	13	32953992	32953993	C	CTT	reviewed by expert panel	ClinGen:CA025952
single nucleotide variant	NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)	BRCA2	Pathogenic	13	32954009	32954009	C	T	reviewed by expert panel	ClinGen:CA025962
Duplication	NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)	BRCA2	Pathogenic	13	32954030	32954030	C	CA	reviewed by expert panel	ClinGen:CA025970
Deletion	NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)	BRCA2	Pathogenic	13	32954023	32954023	CA	C	reviewed by expert panel	ClinGen:CA025971