"Revvity Omics, Revvity"[submitter] AND "KIAA0586"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992350	NM_001244189.2(KIAA0586):c.9+1G>A	KIAA0586	Single nucleotide variant (splice donor variant)	not provided +2 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 774106	NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)	KIAA0586 (L61S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2433097	NM_001329943.3(KIAA0586):c.298G>A (p.Val100Met)	KIAA0586 (V100M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1300425	NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg)	KIAA0586 (T117R +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1368495	NM_001329943.3(KIAA0586):c.411-1409C>T	KIAA0586 (L175F +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +2 more	GUncertain significance
Select item 1323139	NM_001329943.3(KIAA0586):c.506C>A (p.Ser169Ter)	KIAA0586 (S125* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 217669	NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter)	KIAA0586 (Q268* +5 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1492768	NM_001329943.3(KIAA0586):c.807+3A>T	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +2 more	GUncertain significance
Select item 1932708	NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)	KIAA0586 (S656C +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1323140	NM_001329943.3(KIAA0586):c.2875C>T (p.Gln959Ter)	KIAA0586 (Q1012* +6 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2440981	NM_001329943.3(KIAA0586):c.3144+2T>A	KIAA0586	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2690630	NM_001329943.3(KIAA0586):c.3859-2A>G	KIAA0586	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 475452	NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile)	KIAA0586 (T1311I +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2085851	NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)	KIAA0586 (S1384fs +6 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 2433098	NM_001329943.3(KIAA0586):c.*889G>A	KIAA0586	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance