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.5984dup (p.Asn1995fs)	BRCA2	Pathogenic	13	32914472	32914473	C	CA	reviewed by expert panel	ClinGen:CA023449
single nucleotide variant	NM_000059.4(BRCA2):c.5992C>T (p.Gln1998Ter)	BRCA2	Pathogenic	13	32914484	32914484	C	T	reviewed by expert panel	ClinGen:CA023471
Deletion	NM_000059.4(BRCA2):c.5del (p.Pro2fs)	BRCA2	Pathogenic	13	32890601	32890601	GC	G	reviewed by expert panel	ClinGen:CA023497
Deletion	NM_000059.4(BRCA2):c.6001del (p.Ser2001fs)	BRCA2	Pathogenic	13	32914490	32914490	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6229&base_change=del T,ClinGen:CA023500
single nucleotide variant	NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)	BRCA2	Pathogenic	13	32914517	32914517	C	T	reviewed by expert panel	ClinGen:CA023540
Deletion	NM_000059.4(BRCA2):c.6033_6034del (p.Ser2012fs)	BRCA2	Pathogenic	13	32914523	32914524	CTT	C	reviewed by expert panel	ClinGen:CA023552
Insertion	NM_000059.4(BRCA2):c.6033_6034insGT (p.Ser2012fs)	BRCA2	Pathogenic	13	32914524	32914525	T	TTG	reviewed by expert panel	ClinGen:CA023557
single nucleotide variant	NM_000059.4(BRCA2):c.6058G>T (p.Glu2020Ter)	BRCA2	Pathogenic	13	32914550	32914550	G	T	reviewed by expert panel	ClinGen:CA023579
Deletion	NM_000059.4(BRCA2):c.6060_6063del (p.Glu2020fs)	BRCA2	Pathogenic	13	32914552	32914555	AACAT	A	reviewed by expert panel	ClinGen:CA023584
single nucleotide variant	NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter)	BRCA2	Pathogenic	13	32914557	32914557	C	G	reviewed by expert panel	ClinGen:CA023591