KIAA0586[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 155360	GRCh38/hg38 14q23.1(chr14:58288658-58509423)x1	ARID4A, KIAA0586 +12 more	Copy number loss	See cases	GUncertain significance
Select item 1279463	NM_012460.4(TIMM9):c.-134A>C	KIAA0586, TIMM9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1283831	NM_012460.4(TIMM9):c.-156C>G	KIAA0586, TIMM9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1696181	NM_001244189.2(KIAA0586):c.1A>G (p.Met1Val)	KIAA0586 (M1V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1375585	NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile)	KIAA0586 (M1I)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1479396	NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu)	KIAA0586 (F2L)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 840993	NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys)	KIAA0586 (F2C)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +2 more	GUncertain significance
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 1446650	NM_001244189.2(KIAA0586):c.9+4A>C	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1992547	NM_001244189.2(KIAA0586):c.9+5G>C	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 3049176	NM_001244189.2(KIAA0586):c.9+10T>C	KIAA0586	Single nucleotide variant (intron variant)	KIAA0586-related disorder	GUncertain significance
Select item 1529242	NM_001244189.2(KIAA0586):c.9+12G>C	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 1382914	NM_001244189.2(KIAA0586):c.9+14C>T	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1968413	NM_001244189.2(KIAA0586):c.9+16C>T	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1174463	NM_001329943.3(KIAA0586):c.-406T>C	KIAA0586, LOC130055735	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1188490	NM_001329943.3(KIAA0586):c.-69C>T	KIAA0586	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2146415	NM_001329943.3(KIAA0586):c.-47A>G	KIAA0586	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1970765	NM_001329943.3(KIAA0586):c.-37C>G	KIAA0586	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1040119	NM_001329943.3(KIAA0586):c.-36G>A	KIAA0586	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1510588	NM_001329943.3(KIAA0586):c.-33C>G	KIAA0586	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2103942	NM_001329943.3(KIAA0586):c.-31T>G	KIAA0586	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 23 +2 more	GLikely benign
Select item 424017	NM_001329943.3(KIAA0586):c.-29A>C	KIAA0586	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely pathogenic
Select item 2092220	NM_001329943.3(KIAA0586):c.-28G>A	KIAA0586	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2075444	NM_001329943.3(KIAA0586):c.-20C>T	KIAA0586 (T6I)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1193220	NM_001329943.3(KIAA0586):c.-5A>G	KIAA0586 (N11S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1959709	NM_001329943.3(KIAA0586):c.-4C>G	KIAA0586 (N11K)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1988909	NM_001329943.3(KIAA0586):c.-2A>G	KIAA0586 (N12S)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2943614	NM_001329943.3(KIAA0586):c.-1T>C	KIAA0586	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 1507643	NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys)	KIAA0586 (M13K +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1506553	NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile)	KIAA0586 (M13I +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2085377	NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)	KIAA0586 (E5* +1 more)	Duplication (nonsense +2 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 3234725	NM_001329943.3(KIAA0586):c.15G>A (p.Glu5=)	KIAA0586	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 772034	NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp)	KIAA0586 (E5D +1 more)	Single nucleotide variant (missense variant +2 more)	KIAA0586-related disorder +3 more	GLikely benign
Select item 1588273	NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=)	KIAA0586	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1350774	NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter)	KIAA0586 (E21* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 575236	NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)	KIAA0586 (I26fs +1 more)	Duplication (frameshift variant +2 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1175854	NM_001329943.3(KIAA0586):c.38del (p.Lys13fs)	KIAA0586 (K13fs +1 more)	Deletion (frameshift variant +2 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2119116	NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)	KIAA0586 (K11N +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1602074	NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=)	KIAA0586	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1570099	NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=)	KIAA0586	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1358660	NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn)	KIAA0586 (K12N +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 23 +2 more	GUncertain significance
Select item 772917	NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=)	KIAA0586	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1475972	NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met)	KIAA0586 (V30M +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2116991	NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)	KIAA0586 (L21H +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1412723	NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser)	KIAA0586 (R22S +2 more)	Indel (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2220409	NM_001329943.3(KIAA0586):c.64C>A (p.Arg22Ser)	KIAA0586 (R22S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 596525	NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)	KIAA0586 (R22C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2004985	NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)	KIAA0586 (R22P +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1371551	NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu)	KIAA0586 (V24L +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1911376	NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)	KIAA0586 (N13H +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2133072	NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)	KIAA0586 (H14Y +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2152205	NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)	KIAA0586 (H14R +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 445497	NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	KIAA0586 (H17fs +2 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder +6 more	GConflicting classifications of pathogenicity
Select item 1059992	NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile)	KIAA0586 (V19I +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 475438	NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe)	KIAA0586 (V34F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1392720	NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met)	KIAA0586 (L35M +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1461525	NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp)	KIAA0586 (E51D +2 more)	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 542189	NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2041659	NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)	KIAA0586 (C42Y +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1379251	NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter)	KIAA0586 (C27* +2 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2125553	NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)	KIAA0586 (V43I +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2939015	NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)	KIAA0586 (L32fs +2 more)	Duplication (frameshift variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1985508	NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2692542	NM_001329943.3(KIAA0586):c.136G>A (p.Ala46Thr)	KIAA0586 (A31T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416846	NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2142696	NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1396610	NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe)	KIAA0586 (S60F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2942412	NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 817734	NM_001329943.3(KIAA0586):c.153dup (p.Arg52fs)	KIAA0586 (R52fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1460876	NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys)	KIAA0586 (R37C +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1517666	NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His)	KIAA0586 (R64H +2 more)	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2063966	NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)	KIAA0586 (G41E +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 3027314	NM_001329943.3(KIAA0586):c.171G>A (p.Thr57=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2079352	NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 774106	NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)	KIAA0586 (L61S +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 1393080	NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro)	KIAA0586 (S50P +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 208812	NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)	KIAA0586 (S77* +2 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 14 with polydactyly	GPathogenic
Select item 2277816	NM_001329943.3(KIAA0586):c.197G>A (p.Arg66His)	KIAA0586 (R51H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1425631	NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser)	KIAA0586 (G52S +2 more)	Single nucleotide variant (intron variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 450740	NM_001329943.3(KIAA0586):c.199+6T>A	KIAA0586	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 2047884	NM_001329943.3(KIAA0586):c.199+13A>G	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1549154	NM_001329943.3(KIAA0586):c.199+13A>C	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2157764	NM_001329943.3(KIAA0586):c.199+15G>A	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 1600605	NM_001329943.3(KIAA0586):c.199+23del	KIAA0586	Deletion (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GBenign
Select item 1261459	NM_001329943.3(KIAA0586):c.199+275G>A	KIAA0586	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180402	NM_001329943.3(KIAA0586):c.200-286C>T	KIAA0586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554964	NM_001329943.3(KIAA0586):c.200-15C>T	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 1167808	NM_001329943.3(KIAA0586):c.200-14C>A	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GBenign
Select item 2947665	NM_001329943.3(KIAA0586):c.200-5G>A	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2934034	NM_001329943.3(KIAA0586):c.200-2A>G	KIAA0586	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 1651282	NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 475443	NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr)	KIAA0586 (S80T +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +2 more	GBenign
Select item 2200518	NM_001329943.3(KIAA0586):c.213_270+11dup	KIAA0586	Duplication (splice donor variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2039222	NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)	KIAA0586 (T72N +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 1004943	NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile)	KIAA0586 (T57I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance

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