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
Insertion	NM_000059.4(BRCA2):c.8744_8745insCTTA (p.Tyr2916fs)	BRCA2	Pathogenic	13	32950918	32950919	C	CCTTA	criteria provided, single submitter	ClinGen:CA658683846
single nucleotide variant	NM_000059.4(BRCA2):c.9018C>G (p.Tyr3006Ter)	BRCA2	Pathogenic	13	32953951	32953951	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757478
single nucleotide variant	NM_000059.4(BRCA2):c.6592G>T (p.Glu2198Ter)	BRCA2	Likely pathogenic	13	32915084	32915084	G	T	criteria provided, single submitter	ClinGen:CA387790035
single nucleotide variant	NM_000059.4(BRCA2):c.682-1G>T	BRCA2	Pathogenic	13	32905055	32905055	G	T	criteria provided, single submitter	ClinGen:CA387759830
Deletion	NM_000059.4(BRCA2):c.1059del (p.Phe354fs)	BRCA2	Pathogenic	13	32906674	32906674	CA	C	criteria provided, single submitter	ClinGen:CA658683843
Deletion	NM_000059.4(BRCA2):c.2644del (p.Leu882fs)	BRCA2	Pathogenic	13	32911136	32911136	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683839
Deletion	NM_000059.4(BRCA2):c.5162del (p.Asn1721fs)	BRCA2	Pathogenic	13	32913652	32913652	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683840
Deletion	NM_000059.4(BRCA2):c.5925del (p.Cys1975fs)	BRCA2	Pathogenic/Likely pathogenic	13	32914417	32914417	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683862
Insertion	NM_000059.4(BRCA2):c.6839_6840insA (p.Glu2282fs)	BRCA2	Pathogenic	13	32915331	32915332	T	TA	criteria provided, single submitter	ClinGen:CA658683814
Duplication	NM_000059.4(BRCA2):c.8052_8053dup (p.Thr2685fs)	BRCA2	Pathogenic	13	32937387	32937388	C	CAA	criteria provided, single submitter	ClinGen:CA658683809