ClinVar for Gene (Select 9786) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338490	NM_001329943.3(KIAA0586):c.4037A>G (p.Gln1346Arg)	KIAA0586 (Q1206R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3288103	NM_001329943.3(KIAA0586):c.3200C>T (p.Ser1067Leu)	KIAA0586 (S1023L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288102	NM_001329943.3(KIAA0586):c.2926C>T (p.Pro976Ser)	KIAA0586 (P1029S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288101	NM_001329943.3(KIAA0586):c.529A>G (p.Thr177Ala)	KIAA0586 (T133A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288099	NM_001329943.3(KIAA0586):c.4537G>T (p.Ala1513Ser)	KIAA0586 (A1498S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288098	NM_001329943.3(KIAA0586):c.684A>C (p.Gln228His)	KIAA0586 (Q184H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288097	NM_001329943.3(KIAA0586):c.3764A>C (p.Gln1255Pro)	KIAA0586 (Q1170P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288096	NM_001329943.3(KIAA0586):c.194C>T (p.Ser65Leu)	KIAA0586 (S50L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3288095	NM_001329943.3(KIAA0586):c.176C>G (p.Thr59Ser)	KIAA0586 (T59S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3288093	NM_001329943.3(KIAA0586):c.4267C>G (p.Leu1423Val)	KIAA0586 (L1283V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244037	NC_000014.8:g.(?_58894347)_(58917484_?)dup	KIAA0586	Duplication	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 3244036	NC_000014.8:g.(?_58924457)_(58927898_?)del	KIAA0586	Deletion	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 3235063	NM_001329943.3(KIAA0586):c.250_251del (p.Asn84fs)	KIAA0586 (N69fs +2 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 23	GUncertain significance
Select item 3234760	NM_001329943.3(KIAA0586):c.1129+4A>G	KIAA0586	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3114114	NM_001329943.3(KIAA0586):c.923G>A (p.Cys308Tyr)	KIAA0586 (C264Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114112	NM_001329943.3(KIAA0586):c.4385T>G (p.Leu1462Arg)	KIAA0586 (L1418R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114111	NM_001329943.3(KIAA0586):c.4364A>T (p.His1455Leu)	KIAA0586 (H1315L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114110	NM_001329943.3(KIAA0586):c.4363C>A (p.His1455Asn)	KIAA0586 (H1315N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114109	NM_001329943.3(KIAA0586):c.4270A>T (p.Thr1424Ser)	KIAA0586 (T1477S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114108	NM_001329943.3(KIAA0586):c.4043C>A (p.Thr1348Lys)	KIAA0586 (T1263K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114107	NM_001329943.3(KIAA0586):c.320A>G (p.Glu107Gly)	KIAA0586 (E119G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114105	NM_001329943.3(KIAA0586):c.1970G>A (p.Ser657Asn)	KIAA0586 (S517N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114104	NM_001329943.3(KIAA0586):c.1294A>G (p.Met432Val)	KIAA0586 (M417V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3075970	NM_001329943.3(KIAA0586):c.2854_2855insG (p.Ile952fs)	KIAA0586 (I1005fs +6 more)	Insertion (frameshift variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 3061126	NM_001329943.3(KIAA0586):c.2690G>C (p.Arg897Thr)	KIAA0586 (R757T +6 more)	Single nucleotide variant (missense variant)	KIAA0586-related disorder	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 3048739	NM_001329943.3(KIAA0586):c.411-1360G>A	KIAA0586	Single nucleotide variant (intron variant)	KIAA0586-related disorder	GLikely benign
Select item 3041742	NM_001329943.3(KIAA0586):c.2945-10_2945-9del	KIAA0586	Deletion (intron variant)	KIAA0586-related disorder	GLikely benign
Select item 3033625	NM_001329943.3(KIAA0586):c.3114G>C (p.Gly1038=)	KIAA0586	Single nucleotide variant (synonymous variant)	KIAA0586-related disorder	GLikely benign
Select item 3032036	NM_001329943.3(KIAA0586):c.998A>G (p.Lys333Arg)	KIAA0586 (K193R +5 more)	Single nucleotide variant (missense variant)	KIAA0586-related disorder	GUncertain significance
Select item 3031663	NM_001329943.3(KIAA0586):c.411-1357T>C	KIAA0586	Single nucleotide variant (intron variant)	KIAA0586-related disorder	GLikely benign
Select item 3030814	NM_001329943.3(KIAA0586):c.2373A>G (p.Val791=)	KIAA0586	Single nucleotide variant (synonymous variant)	KIAA0586-related disorder	GLikely benign
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 2953409	NM_001329943.3(KIAA0586):c.1584-18C>A	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2952733	NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)	KIAA0586 (E1253* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2952523	NM_001329943.3(KIAA0586):c.1130-16A>G	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2952380	NM_001329943.3(KIAA0586):c.4324-6A>G	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2951645	NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2951525	NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2951452	NM_001329943.3(KIAA0586):c.1253+1G>A	KIAA0586	Single nucleotide variant (splice donor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2951141	NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2950795	NM_001329943.3(KIAA0586):c.3858+16C>T	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2950716	NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)	KIAA0586 (P1043fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2950159	NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)	KIAA0586 (S1531G +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2949718	NM_001329943.3(KIAA0586):c.3145-16G>A	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2949467	NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT	KIAA0586	Insertion (splice donor variant)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2949390	NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2949376	NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)	KIAA0586 (D145G +5 more)	Single nucleotide variant (missense variant)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2949273	NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del	KIAA0586	Deletion (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2948901	NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)	KIAA0586 (E1085* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2948726	NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)	KIAA0586 (Q79* +2 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2948175	NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
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 2947208	NM_001329943.3(KIAA0586):c.4495+3796G>T	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2947040	NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2946791	NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)	KIAA0586 (N299* +5 more)	Duplication (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2946755	NM_001329943.3(KIAA0586):c.3990+19G>A	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2946199	NM_001329943.3(KIAA0586):c.411-1448G>A	KIAA0586 (G162R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2945565	NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2945409	NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2945150	NM_001329943.3(KIAA0586):c.3144+2T>C	KIAA0586	Single nucleotide variant (splice donor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2944935	NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2944372	NM_001329943.3(KIAA0586):c.1253+12A>T	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2943922	NM_001329943.3(KIAA0586):c.3304+14_3304+19del	KIAA0586	Deletion (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2943700	NM_001329943.3(KIAA0586):c.1130-20C>G	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2943614	NM_001329943.3(KIAA0586):c.-1T>C	KIAA0586	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2943593	NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)	KIAA0586 (K1425R +6 more)	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2943298	NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2943202	NM_001329943.3(KIAA0586):c.1129+20G>C	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2943127	NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2943045	NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)	KIAA0586 (H256N +5 more)	Single nucleotide variant (missense variant)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2942852	NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)	KIAA0586 (N277fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2942533	NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2942521	NM_001329943.3(KIAA0586):c.340+14A>G	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2942476	NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)	KIAA0586 (Q709* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2942412	NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2941801	NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)	KIAA0586 (S481G +5 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2941710	NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2941488	NM_001329943.3(KIAA0586):c.808-20A>C	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2941409	NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)	KIAA0586 (G112fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2941198	NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)	KIAA0586 (E404fs +5 more)	Microsatellite (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2941180	NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2940792	NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)	KIAA0586 (Q1542E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2940238	NM_001329943.3(KIAA0586):c.4495+3730T>G	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2939733	NM_001329943.3(KIAA0586):c.4168+6C>T	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2939645	NM_001329943.3(KIAA0586):c.3144+1G>A	KIAA0586	Single nucleotide variant (splice donor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2939389	NM_001329943.3(KIAA0586):c.4430-15T>C	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2939220	NM_001329943.3(KIAA0586):c.2944+19T>A	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2939051	NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2939015	NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)	KIAA0586 (L32fs +2 more)	Duplication (frameshift variant +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2938506	NM_001329943.3(KIAA0586):c.2254+1G>T	KIAA0586	Single nucleotide variant (splice donor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2938504	NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2938340	NM_001329943.3(KIAA0586):c.271-1G>A	KIAA0586	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2937562	NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2937106	NM_001329943.3(KIAA0586):c.2554-9C>A	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2936600	NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2936418	NM_001329943.3(KIAA0586):c.962-3A>C	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2936371	NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2936287	NM_001329943.3(KIAA0586):c.411-1348dup	KIAA0586	Duplication (intron variant)	Joubert syndrome 23 +1 more	GLikely benign

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