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.6458del (p.Pro2153fs)	BRCA2	Pathogenic	13	32914949	32914949	TC	T	reviewed by expert panel	ClinGen:CA024075
single nucleotide variant	NM_000059.4(BRCA2):c.6475C>T (p.Gln2159Ter)	BRCA2	Pathogenic	13	32914967	32914967	C	T	reviewed by expert panel	ClinGen:CA024094
Insertion	NM_000059.4(BRCA2):c.6663_6664insAAAG (p.Tyr2222fs)	BRCA2	Pathogenic	13	32915155	32915156	C	CAAAG	reviewed by expert panel	ClinGen:CA024269
Deletion	NM_000059.4(BRCA2):c.7026del (p.Glu2343fs)	BRCA2	Pathogenic	13	32929015	32929015	CA	C	reviewed by expert panel	ClinGen:CA024771
Duplication	NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs)	BRCA2	Pathogenic	13	32929086	32929087	C	CT	reviewed by expert panel	ClinGen:CA193532
Deletion	NM_000059.4(BRCA2):c.7301del (p.Lys2434fs)	BRCA2	Pathogenic	13	32929288	32929288	CA	C	reviewed by expert panel	ClinGen:CA025019
single nucleotide variant	NM_000059.4(BRCA2):c.7718T>G (p.Leu2573Ter)	BRCA2	Pathogenic	13	32931979	32931979	T	G	reviewed by expert panel	ClinGen:CA025244
single nucleotide variant	NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)	BRCA2	Likely pathogenic	13	32932063	32932063	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025278
single nucleotide variant	NM_000059.4(BRCA2):c.8332-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32944538	32944538	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025584
single nucleotide variant	NM_000059.4(BRCA2):c.8875G>T (p.Glu2959Ter)	BRCA2	Pathogenic	13	32953574	32953574	G	T	reviewed by expert panel	ClinGen:CA025858