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_000059.4(BRCA2):c.4354C>T (p.Gln1452Ter)	BRCA2	Pathogenic	13	32912846	32912846	C	T	reviewed by expert panel	ClinGen:CA16606424
single nucleotide variant	NM_000059.4(BRCA2):c.8170G>T (p.Gly2724Trp)	BRCA2	Likely pathogenic	13	32937509	32937509	G	T	criteria provided, single submitter	ClinGen:CA16607488
Deletion	NM_024426.6(WT1):c.812del (p.Pro271fs)	WT1	Pathogenic	11	32449577	32449577	CG	C	criteria provided, single submitter	ClinGen:CA16613560
Deletion	NM_000059.3(BRCA2):c.7436-?_7805+?del	BRCA2	Pathogenic	13	32930565	32932066	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.959del (p.Leu320fs)	BRCA2	Pathogenic	13	32906574	32906574	CT	C	reviewed by expert panel	ClinGen:CA16613823
Duplication	NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)	BRCA2	Pathogenic	13	32907404	32907405	G	GA	reviewed by expert panel	ClinGen:CA16613841
Deletion	NM_000059.4(BRCA2):c.2235del (p.Val746fs)	BRCA2	Pathogenic	13	32910724	32910724	CA	C	reviewed by expert panel	ClinGen:CA16613853
Deletion	NM_000059.4(BRCA2):c.3077del (p.Lys1026fs)	BRCA2	Pathogenic	13	32911568	32911568	GA	G	reviewed by expert panel	ClinGen:CA16613865
Deletion	NC_000013.11:g.(?_32316422)_(32355288_?)del	BRCA2	Pathogenic	13	32890559	32929425	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.203_218del (p.Lys68fs)	BRCA2	Pathogenic	13	32893348	32893363	GAAACCATCTTATAATC	G	reviewed by expert panel	ClinGen:CA16613896