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.5835_5842dup (p.Cys1948fs)	BRCA2	Pathogenic	13	32914325	32914326	A	ATATCACCT	reviewed by expert panel	ClinGen:CA10589332
Duplication	NM_000059.4(BRCA2):c.5835dup (p.Ser1946fs)	BRCA2	Pathogenic	13	32914326	32914327	T	TA	reviewed by expert panel	ClinGen:CA10589333
Insertion	NM_000059.4(BRCA2):c.5855_5856insAGTT (p.Glu1953fs)	BRCA2	Pathogenic	13	32914345	32914346	T	TTTAG	reviewed by expert panel	ClinGen:CA10589334
Duplication	NM_000059.4(BRCA2):c.5904dup (p.Val1969fs)	BRCA2	Pathogenic	13	32914395	32914396	C	CA	reviewed by expert panel	ClinGen:CA10589335
Deletion	NM_000059.4(BRCA2):c.5918del (p.Asn1973fs)	BRCA2	Pathogenic	13	32914408	32914408	CA	C	reviewed by expert panel	ClinGen:CA10589336
Deletion	NM_000059.4(BRCA2):c.5919del (p.Asn1973fs)	BRCA2	Pathogenic	13	32914411	32914411	AT	A	reviewed by expert panel	ClinGen:CA10589337
Deletion	NM_000059.4(BRCA2):c.5948del (p.Gly1983fs)	BRCA2	Pathogenic	13	32914439	32914439	TG	T	reviewed by expert panel	ClinGen:CA10589338
single nucleotide variant	NM_000059.4(BRCA2):c.5966C>G (p.Ser1989Ter)	BRCA2	Pathogenic	13	32914458	32914458	C	G	reviewed by expert panel	ClinGen:CA10589339
Duplication	NM_000059.4(BRCA2):c.5966dup (p.Asp1990fs)	BRCA2	Pathogenic	13	32914457	32914458	T	TC	reviewed by expert panel	ClinGen:CA10589340
single nucleotide variant	NM_000059.4(BRCA2):c.5975C>G (p.Ser1992Ter)	BRCA2	Pathogenic	13	32914467	32914467	C	G	reviewed by expert panel	ClinGen:CA10589341