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.4936_4937del (p.Glu1646fs)	BRCA2	Pathogenic	13	32913427	32913428	AAG	A	reviewed by expert panel	ClinGen:CA021033
Insertion	NM_000059.4(BRCA2):c.4976_4977insG (p.Tyr1661fs)	BRCA2	Pathogenic	13	32913468	32913469	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA021089
Deletion	NM_000059.4(BRCA2):c.5378del (p.Asn1793fs)	BRCA2	Pathogenic	13	32913869	32913869	CA	C	reviewed by expert panel	ClinGen:CA022162
single nucleotide variant	NM_000059.4(BRCA2):c.5578A>T (p.Lys1860Ter)	BRCA2	Pathogenic	13	32914070	32914070	A	T	reviewed by expert panel	ClinGen:CA022617
Deletion	NM_000059.4(BRCA2):c.6211del (p.Ser2071fs)	BRCA2	Pathogenic	13	32914701	32914701	GA	G	reviewed by expert panel	ClinGen:CA023754
Duplication	NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs)	BRCA2	Pathogenic	13	32914888	32914889	A	AT	reviewed by expert panel	ClinGen:CA023979
Deletion	NM_000059.4(BRCA2):c.6602del (p.Ser2201fs)	BRCA2	Pathogenic	13	32915094	32915094	TC	T	reviewed by expert panel	ClinGen:CA024203
single nucleotide variant	NM_000059.4(BRCA2):c.6959T>A (p.Leu2320Ter)	BRCA2	Pathogenic	13	32920985	32920985	T	A	reviewed by expert panel	ClinGen:CA024636
Deletion	NM_000059.4(BRCA2):c.715del (p.Ser239fs)	BRCA2	Pathogenic	13	32905087	32905087	GA	G	reviewed by expert panel	ClinGen:CA024913
Deletion	NM_000059.4(BRCA2):c.8463del (p.Ile2822fs)	BRCA2	Pathogenic	13	32944669	32944669	AT	A	reviewed by expert panel	ClinGen:CA025656