"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 530703	NM_006892.4(DNMT3B):c.73G>A (p.Gly25Arg)	DNMT3B (G25R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 944620	NM_006892.4(DNMT3B):c.1087C>T (p.Arg363Cys)	DNMT3B (R363C)	Single nucleotide variant (missense variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 579562	NM_006892.4(DNMT3B):c.1538C>T (p.Ala513Val)	DNMT3B, LOC126863014 (A513V +4 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 338174	NM_006892.4(DNMT3B):c.1760-8C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +3 more	GBenign/Likely benign
Select item 747122	NM_006892.4(DNMT3B):c.2055G>A (p.Lys685=)	DNMT3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 530713	NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)	DNMT3B	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

ClinVar