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.3628_3629del (p.Thr1209_Asp1210insTer)	BRCA2	Pathogenic	13	32912119	32912120	CAG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912195	32912195	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.4600dup (p.Ile1534fs)	BRCA2	Pathogenic	13	32913088	32913089	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4974del (p.Gln1658fs)	BRCA2	Pathogenic	13	32913466	32913466	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter)	BRCA2	Pathogenic	13	32913498	32913498	T	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5226del (p.Asn1742fs)	BRCA2	Pathogenic	13	32913718	32913718	AC	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5344del (p.Gln1782fs)	BRCA2	Pathogenic	13	32913836	32913836	TC	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5991_5995del (p.Arg1997fs)	BRCA2	Pathogenic	13	32914479	32914483	GCAAGA	G	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.6302dup (p.Asn2101fs)	BRCA2	Pathogenic	13	32914790	32914791	C	CA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.6715dup (p.Glu2239fs)	BRCA2	Pathogenic	13	32915206	32915207	T	TG	criteria provided, single submitter	-