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_005612.5(REST):c.2227G>T (p.Glu743Ter)	REST	Pathogenic	4	57797251	57797251	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_024426.6(WT1):c.1421A>C (p.His474Pro)	WT1	Likely pathogenic	11	32413544	32413544	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)	BRCA2	Pathogenic	13	32913945	32913945	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3635del (p.Asn1212fs)	BRCA2	Pathogenic	13	32912124	32912124	GA	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000059.3(BRCA2):c.9064delinsGG (p.Arg3022fs)	BRCA2	Likely pathogenic	13	32953997	32953997	A	GG	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.68-1G>C	BRCA2	Pathogenic	13	32893213	32893213	G	C	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer)	BRCA2	Pathogenic/Likely pathogenic	13	32899298	32899299	T	TCTAAATTC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.544G>T (p.Glu182Ter)	BRCA2	Pathogenic	13	32900663	32900663	G	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.963_966del (p.Gln321_Lys322insTer)	BRCA2	Pathogenic	13	32906577	32906580	CAAAA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1041del (p.Gln347_Val348insTer)	BRCA2	Pathogenic	13	32906655	32906655	CA	C	criteria provided, single submitter	-