C4084822[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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	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)	Joubert syndrome 23 +2 more	GUncertain significance
Select item 369671	NM_001329943.3(KIAA0586):c.790C>T (p.Gln264Ter)	KIAA0586 (Q264* +5 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23	GPathogenic
Select item 204594	NM_001329943.3(KIAA0586):c.1254-1G>C	KIAA0586	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 23 +2 more	GPathogenic

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