Diagnosis (age)
Gene/ transcript
Chromosomal position in bp (hg19)
Chromosomal position in bp (hg19)
Nucleotide /aminoacid change
Category
Zygosity
Origin
Clinical signs/Comments
Neuroblastoma (1 month)
NM_000059.3 chr13 g.32914515 c.6024dup p.Gln2009Alafs*9 A/AG c.6024dup p.Gln2009Alafs*9 A/AG Pathogenic Heterozygous Mother Family history of breast cancer
Wilms Tumor (22 y)
NM_004484.3 chrX g.132838281 c.1033-4225G>A T/T c.1033-4225G>A T/T Likely Pathogenic Heterozygous Mother
Schwannoma (6y) FANCL chr2 : 58386860-58390670 9-14 Exon deletion 9-14 Exon deletion Pathogenic Heterozygous Presented as well in the tumor and detected by MLPA
Glial neuroepitelial Brain Tumor (2 y)
NM_004656.3 chr3 g.52438516_52438518 c.1201_1203delinsGAG p.Tyr401Glu c.1201_1203delinsGAG p.Tyr401Glu VUS Heterozygous Father Presented as well in the tumor. BCOR mutation in the tumor
Neuroblastoma (18 months)
NM_006218.3 chr3 g.178916677 c.64G>A p.Val22Ile c.64G>A p.Val22Ile VUS Heterozygous Father ALK mutation in tumor
Neuroblastoma (15 months)
NM_004304.4 chr2 g.29498276 c.1904A>G p.Tyr635Cys c.1904A>G p.Tyr635Cys VUS Heterozygous Mother
Rhabdomyosarcoma (6 y)
NM_000076.2 chr11 g.2906145 c.575C>G p.Pro192Arg c.575C>G p.Pro192Arg VUS Heterozygous De novo
Neuroblastoma (7 months)
NM_002524.5 chr1 g.115252309 c.331A>G p.Met111Val c.331A>G p.Met111Val VUS Heterozygous Father
Wilms Tumor (13 months) REST NM_001193508.1 chr4 g.57796160 c.1136A>G p.His379Arg c.1136A>G p.His379Arg VUS Heterozygous Father