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	NC_000013.11:g.(?_32316455)_(32326288_?)del	BRCA2	Pathogenic	13	32890592	32900425	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32356408)_(32356629_?)del	BRCA2	Pathogenic	13	32930545	32930766	na	na	criteria provided, single submitter	-
Deletion	NM_024426.6(WT1):c.653del (p.Arg218fs)	WT1	Pathogenic	11	32456254	32456254	GC	G	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.897dup (p.Val300fs)	BRCA2	Pathogenic	13	32906510	32906511	G	GT	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.1010dup (p.Asn337fs)	BRCA2	Pathogenic	13	32906622	32906623	C	CA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.5388dup (p.Ala1797fs)	BRCA2	Pathogenic	13	32913879	32913880	A	AT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5465del (p.Asn1822fs)	BRCA2	Pathogenic	13	32913953	32913953	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6282T>A (p.Tyr2094Ter)	BRCA2	Pathogenic	13	32914774	32914774	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32918712	32918712	A	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7958_7959dup (p.Leu2654fs)	BRCA2	Pathogenic/Likely pathogenic	13	32936811	32936812	C	CTT	criteria provided, multiple submitters, no conflicts	-