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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 731748	NM_024921.4(POF1B):c.943C>T (p.Arg315Cys)	POF1B (R315C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1300002	NM_024921.4(POF1B):c.885G>A (p.Ser295=)	POF1B	Single nucleotide variant (synonymous variant)	POF1B-related condition +1 more	GLikely benign
Select item 913301	NM_024921.4(POF1B):c.85C>A (p.His29Asn)	POF1B (H29N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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ClinVar