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
single nucleotide variant	NM_000059.4(BRCA2):c.6385G>T (p.Glu2129Ter)	BRCA2	Pathogenic	13	32914877	32914877	G	T	reviewed by expert panel	ClinGen:CA10589373
Duplication	NM_000059.4(BRCA2):c.6396dupA	BRCA2	Pathogenic	13	32914887	32914888	T	TA	reviewed by expert panel	ClinGen:CA10589374
Deletion	NM_000059.4(BRCA2):c.6410del (p.Asn2137fs)	BRCA2	Pathogenic	13	32914900	32914900	TA	T	reviewed by expert panel	ClinGen:CA10589375
Deletion	NM_000059.4(BRCA2):c.6419del (p.Gly2140fs)	BRCA2	Pathogenic	13	32914910	32914910	AG	A	reviewed by expert panel	ClinGen:CA10589376
single nucleotide variant	NM_000059.4(BRCA2):c.6428C>G (p.Ser2143Ter)	BRCA2	Pathogenic	13	32914920	32914920	C	G	reviewed by expert panel	ClinGen:CA10589377
Deletion	NM_000059.4(BRCA2):c.6447del (p.Val2151fs)	BRCA2	Pathogenic	13	32914938	32914938	AT	A	reviewed by expert panel	ClinGen:CA10589378
single nucleotide variant	NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter)	BRCA2	Pathogenic	13	32914970	32914970	C	T	reviewed by expert panel	ClinGen:CA10589379
Deletion	NM_000059.4(BRCA2):c.6485_6486del (p.Lys2162fs)	BRCA2	Pathogenic	13	32914976	32914977	CAA	C	reviewed by expert panel	ClinGen:CA10589380
single nucleotide variant	NM_000059.4(BRCA2):c.6500T>A (p.Leu2167Ter)	BRCA2	Pathogenic	13	32914992	32914992	T	A	reviewed by expert panel	ClinGen:CA10589381
single nucleotide variant	NM_000059.4(BRCA2):c.6502G>T (p.Gly2168Ter)	BRCA2	Pathogenic	13	32914994	32914994	G	T	reviewed by expert panel	ClinGen:CA10589382