"Gharavi Laboratory, Columbia University"[submitter] AND "WDR19"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562401	NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)	WDR19 (F5S)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 591473	NM_025132.4(WDR19):c.991G>T (p.Gly331Cys)	WDR19 (G331C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591686	NM_025132.4(WDR19):c.1809del (p.Val604fs)	WDR19 (V444fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591350	NM_025132.4(WDR19):c.1883ACA[1] (p.Asn629del)	WDR19 (N629del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 591930	NM_025132.4(WDR19):c.2252A>T (p.Glu751Val)	WDR19 (E751V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 127159	NM_025132.4(WDR19):c.3565+1G>A	WDR19	Single nucleotide variant (splice donor variant)	Nephronophthisis 13 +4 more	GPathogenic/Likely pathogenic

ClinVar