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
Deletion	NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)	BRCA2	Pathogenic	13	32913119	32913119	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4859&base_change=del A,ClinGen:CA020560
Deletion	NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)	BRCA2	Pathogenic	13	32913126	32913126	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4866&base_change=del T,ClinGen:CA020572
Deletion	NM_000059.4(BRCA2):c.475+4del	BRCA2	Pathogenic/Likely pathogenic	13	32900291	32900291	AT	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):703+4&base_change=del T,ClinGen:CA020770
single nucleotide variant	NM_000059.4(BRCA2):c.476-1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32900378	32900378	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020789
single nucleotide variant	NM_000059.4(BRCA2):c.476-2A>G	BRCA2	Pathogenic	13	32900377	32900377	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):704-2&base_change=A to G,ClinGen:CA020792
Deletion	NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)	BRCA2	Pathogenic	13	32913368	32913369	GAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5104&base_change=del AA,ClinGen:CA020941
Deletion	NM_000059.4(BRCA2):c.4921_4924del (p.Glu1641fs)	BRCA2	Pathogenic	13	32913413	32913416	TGAAA	T	reviewed by expert panel	ClinGen:CA021008
Deletion	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Pathogenic	13	32913425	32913428	AAAAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5164&base_change=del GAAA,ClinGen:CA021036
single nucleotide variant	NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	BRCA2	Pathogenic	13	32913457	32913457	C	G	reviewed by expert panel	ClinGen:CA021070
single nucleotide variant	NM_000059.4(BRCA2):c.5000C>G (p.Ser1667Ter)	BRCA2	Pathogenic	13	32913492	32913492	C	G	reviewed by expert panel	ClinGen:CA021122