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.9674dup (p.Tyr3225Ter)	BRCA2	Pathogenic	13	32972323	32972324	T	TA	reviewed by expert panel	ClinGen:CA10586598
Deletion	NM_000059.4(BRCA2):c.9689del (p.Leu3230fs)	BRCA2	Pathogenic	13	32972337	32972337	CT	C	reviewed by expert panel	ClinGen:CA6941439
single nucleotide variant	NM_000059.4(BRCA2):c.1185G>A (p.Trp395Ter)	BRCA2	Pathogenic	13	32906800	32906800	G	A	reviewed by expert panel	ClinGen:CA10588559
Deletion	NM_000059.4(BRCA2):c.1212del (p.Asn404fs)	BRCA2	Pathogenic	13	32906827	32906827	AT	A	reviewed by expert panel	ClinGen:CA10588560
Deletion	NM_000059.4(BRCA2):c.5120del (p.Thr1707fs)	BRCA2	Pathogenic	13	32913612	32913612	AC	A	reviewed by expert panel	ClinGen:CA10588565
Deletion	NM_000059.4(BRCA2):c.6481_6484del (p.Asp2161fs)	BRCA2	Pathogenic	13	32914972	32914975	AAGAC	A	reviewed by expert panel	ClinGen:CA10588566
Deletion	NM_000059.4(BRCA2):c.6727del (p.Ser2243fs)	BRCA2	Pathogenic	13	32915218	32915218	AT	A	reviewed by expert panel	ClinGen:CA10588567
Indel	NM_000059.4(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs)	BRCA2	Pathogenic	13	32929200	32929206	AAAGTCT	TGTAG	reviewed by expert panel	ClinGen:CA10588568
Indel	NM_000059.3(BRCA2):c.48_50delinsATCGATCGAT (p.Thr17fs)	BRCA2	Pathogenic	13	32890645	32890647	GAC	ATCGATCGAT	reviewed by expert panel	ClinGen:CA10589001
Duplication	NM_000059.4(BRCA2):c.48dup (p.Thr17fs)	BRCA2	Pathogenic	13	32890644	32890645	A	AG	reviewed by expert panel	ClinGen:CA10589002