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.9183dup (p.Asp3062fs)	BRCA2	Pathogenic	13	32954208	32954209	T	TA	reviewed by expert panel	ClinGen:CA658653815
Insertion	NM_000059.4(BRCA2):c.9194_9195insA (p.Phe3065fs)	BRCA2	Pathogenic	13	32954220	32954221	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653816
single nucleotide variant	NM_024426.6(WT1):c.699C>A (p.Tyr233Ter)	WT1	Likely pathogenic	11	32450128	32450128	G	T	criteria provided, single submitter	ClinGen:CA379963503
single nucleotide variant	NM_024426.6(WT1):c.1351A>C (p.Thr451Pro)	WT1	Likely pathogenic	11	32414215	32414215	T	G	criteria provided, single submitter	ClinGen:CA379959115
single nucleotide variant	NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)	WT1	Pathogenic	11	32417947	32417947	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA379960070
Deletion	NM_024426.6(WT1):c.543_556del (p.Tyr182fs)	WT1	Pathogenic	11	32456351	32456364	CCGAAGGGCCCGTAG	C	criteria provided, single submitter	ClinGen:CA658658039
single nucleotide variant	NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32907055	32907055	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387764299
single nucleotide variant	NM_000059.4(BRCA2):c.2099T>A (p.Leu700Ter)	BRCA2	Pathogenic	13	32910591	32910591	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387769896
single nucleotide variant	NM_000059.4(BRCA2):c.4397T>G (p.Leu1466Ter)	BRCA2	Pathogenic	13	32912889	32912889	T	G	criteria provided, single submitter	ClinGen:CA387781122
single nucleotide variant	NM_000059.4(BRCA2):c.6298C>T (p.Gln2100Ter)	BRCA2	Pathogenic	13	32914790	32914790	C	T	criteria provided, single submitter	ClinGen:CA387789022