"Baylor Genetics"[submitter] AND "KIAA0586"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 951834	NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser)	KIAA0586 (R171S +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 204594	NM_001329943.3(KIAA0586):c.1254-1G>C	KIAA0586	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 23 +2 more	GPathogenic
Select item 1031250	NM_001329943.3(KIAA0586):c.1277A>G (p.Glu426Gly)	KIAA0586 (E426G +5 more)	Single nucleotide variant (missense variant)	Joubert syndrome 23	GUncertain significance
Select item 1031251	NM_001329943.3(KIAA0586):c.2336C>A (p.Ser779Tyr)	KIAA0586 (S703Y +6 more)	Single nucleotide variant (missense variant)	Joubert syndrome 23	GUncertain significance
Select item 2582362	NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)	KIAA0586 (I1125fs +6 more)	Duplication (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic/Likely pathogenic
Select item 1031252	NM_001329943.3(KIAA0586):c.4283A>G (p.Asn1428Ser)	KIAA0586 (N1413S +6 more)	Single nucleotide variant (missense variant)	Joubert syndrome 23	GUncertain significance
Select item 1031253	NM_001329943.3(KIAA0586):c.4324-1G>A	KIAA0586	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GConflicting classifications of pathogenicity

ClinVar