"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220870	NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)	WDPCP (N688S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 522195	NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)	WDPCP (R483Q +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1327998	NM_015910.7(WDPCP):c.541C>T (p.Gln181Ter)	WDPCP (Q157* +2 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 15 +1 more	GLikely pathogenic
Select item 220911	NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)	WDPCP (I59N +1 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 336770	NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)	WDPCP (D28V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 260682	NM_015910.7(WDPCP):c.76-15T>A	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 15 +2 more	GBenign
Select item 193388	NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)	WDPCP (P23Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign

ClinVar