"Eurofins Ntd Llc (ga)"[submitter] AND "KIAA0586"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 596525	NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)	KIAA0586 (R22C +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +3 more	GConflicting classifications of pathogenicity
Select item 445497	NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	KIAA0586 (H17fs +2 more)	Duplication (frameshift variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 204593	NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	KIAA0586 (R131fs +3 more)	Deletion (frameshift variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 497058	NM_001329943.3(KIAA0586):c.908del (p.Pro303fs)	KIAA0586 (P163fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 594719	NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu)	KIAA0586 (H1096L +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 501274	NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala)	KIAA0586 (T1345A +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar