ClinVar for Gene (Select 200894) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246903	NC_000003.11:g.(?_93754155)_(93755618_?)del	ARL13B	Deletion	Joubert syndrome 8	GPathogenic
Select item 3235123	NM_001174150.2(ARL13B):c.89A>G (p.Asp30Gly)	ARL13B (D30G)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 8	GUncertain significance
Select item 3171751	NM_001001850.3(STX19):c.601G>A (p.Glu201Lys)	ARL13B, STX19 (E201K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171750	NM_001001850.3(STX19):c.44T>C (p.Ile15Thr)	ARL13B, STX19 (I15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171749	NM_001001850.3(STX19):c.445T>C (p.Phe149Leu)	ARL13B, STX19 (F149L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171748	NM_001001850.3(STX19):c.424C>T (p.Arg142Cys)	ARL13B, STX19 (R142C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171747	NM_001001850.3(STX19):c.251G>C (p.Arg84Thr)	ARL13B, STX19 (R84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171746	NM_001001850.3(STX19):c.233T>C (p.Leu78Pro)	ARL13B, STX19 (L78P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129527	NM_001174150.2(ARL13B):c.766C>A (p.Pro256Thr)	ARL13B (P256T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3129526	NM_001174150.2(ARL13B):c.55G>A (p.Val19Ile)	ARL13B (V19I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3129525	NM_001174150.2(ARL13B):c.527A>G (p.Asp176Gly)	ARL13B (D69G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067342	NM_001174150.2(ARL13B):c.696A>G (p.Gln232=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3058555	NM_001174150.2(ARL13B):c.*2C>T	ARL13B	Single nucleotide variant (3 prime UTR variant +1 more)	ARL13B-related disorder	GLikely benign
Select item 3054021	NM_001174150.2(ARL13B):c.1140T>G (p.Pro380=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	ARL13B-related disorder	GLikely benign
Select item 3044634	NM_001174150.2(ARL13B):c.130+726G>A	ARL13B (R24H)	Single nucleotide variant (missense variant +1 more)	ARL13B-related disorder	GBenign
Select item 3041478	NM_001174150.2(ARL13B):c.*8G>A	ARL13B	Single nucleotide variant (3 prime UTR variant +1 more)	ARL13B-related disorder	GLikely benign
Select item 3037926	NM_001174150.2(ARL13B):c.1140T>A (p.Pro380=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	ARL13B-related disorder	GLikely benign
Select item 3036857	NM_001174150.2(ARL13B):c.380+10G>A	ARL13B	Single nucleotide variant (intron variant)	ARL13B-related disorder	GLikely benign
Select item 3030447	NM_001174150.2(ARL13B):c.495T>C (p.Cys165=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	ARL13B-related disorder	GLikely benign
Select item 3024628	GRCh37/hg19 3q11.1-11.2(chr3:93519764-95321276)x3	ARL13B, DHFR2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 3014874	NM_001174150.2(ARL13B):c.556C>T (p.Leu186=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 3013775	NM_001174150.2(ARL13B):c.709C>T (p.Gln237Ter)	ARL13B (Q222* +3 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 8	GPathogenic
Select item 2990027	NM_001174150.2(ARL13B):c.487-16T>C	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2976081	NM_001174150.2(ARL13B):c.1125C>T (p.Pro375=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 2963040	NM_001174150.2(ARL13B):c.59+14del	ARL13B	Deletion (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2957313	NM_001174150.2(ARL13B):c.108A>G (p.Ala36=)	ARL13B	Single nucleotide variant (synonymous variant +3 more)	Joubert syndrome 8	GLikely benign
Select item 2875299	NM_001174150.2(ARL13B):c.486+15T>A	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2857423	NM_001174150.2(ARL13B):c.1165A>G (p.Thr389Ala)	ARL13B (T286A +3 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2856974	NM_001174150.2(ARL13B):c.454T>C (p.Leu152=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 2856973	NM_001174150.2(ARL13B):c.60-19A>T	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2841017	NM_001174150.2(ARL13B):c.798+16A>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2839220	NM_001174150.2(ARL13B):c.1182T>A (p.Leu394=)	ARL13B	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 8	GLikely benign
Select item 2823355	NM_001174150.2(ARL13B):c.87T>G (p.Leu29=)	ARL13B	Single nucleotide variant (intron variant +3 more)	Joubert syndrome 8	GLikely benign
Select item 2821955	NM_001174150.2(ARL13B):c.1284A>C (p.Ser428=)	ARL13B	Single nucleotide variant (non-coding transcript variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 2795728	NM_001174150.2(ARL13B):c.1024+9T>A	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2753191	NM_001174150.2(ARL13B):c.131-9T>C	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2745353	NM_001174150.2(ARL13B):c.130+8G>A	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2736786	NM_001174150.2(ARL13B):c.73_74del (p.Leu25fs)	ARL13B (L25fs)	Deletion (frameshift variant +3 more)	Joubert syndrome 8	GPathogenic
Select item 2729709	NM_001174150.2(ARL13B):c.1142-12C>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2712137	NM_001174150.2(ARL13B):c.996T>C (p.Asp332=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 2703370	NM_001174150.2(ARL13B):c.1006C>A (p.Arg336=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 2693733	NM_001174150.2(ARL13B):c.1211-11T>A	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2526142	NM_001174150.2(ARL13B):c.682G>C (p.Glu228Gln)	ARL13B (E121Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515922	NM_001001850.3(STX19):c.83C>T (p.Thr28Ile)	ARL13B, STX19 (T28I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511305	NM_001001850.3(STX19):c.461C>A (p.Thr154Lys)	ARL13B, STX19 (T154K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2501016	NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)	ARL13B (Q219* +3 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2492184	NM_001174150.2(ARL13B):c.94G>A (p.Ala32Thr)	ARL13B (A32T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2482026	NM_001001850.3(STX19):c.854G>A (p.Cys285Tyr)	ARL13B, STX19 (C285Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481060	NM_001001850.3(STX19):c.173A>T (p.Gln58Leu)	ARL13B, STX19 (Q58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445749	NM_001174150.2(ARL13B):c.59+1G>A	ARL13B	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2427601	NC_000003.11:g.(?_93714775)_(93724716_?)del	ARL13B	Deletion	Joubert syndrome 8	GPathogenic
Select item 2427600	NC_000003.11:g.(?_93772011)_(93845334_?)dup	ARL13B, DHFR2 +1 more	Duplication	Joubert syndrome 8	GUncertain significance
Select item 2427599	NC_000003.11:g.(?_93692478)_(93699346_?)dup	PROS1, ARL13B	Duplication	Joubert syndrome 8	GUncertain significance
Select item 2422858	NC_000003.11:g.(?_93593089)_(93772107_?)dup	ARL13B, PROS1 +1 more	Duplication	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2413347	NM_001174150.2(ARL13B):c.680G>A (p.Arg227Gln)	ARL13B (R120Q +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2345608	NM_001001850.3(STX19):c.757A>G (p.Thr253Ala)	STX19, ARL13B (T253A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321478	NM_001174150.2(ARL13B):c.79G>A (p.Val27Met)	ARL13B (V27M)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2319991	NM_001001850.3(STX19):c.235G>A (p.Val79Met)	ARL13B, STX19 (V79M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297844	NM_001174150.2(ARL13B):c.508G>A (p.Gly170Arg)	ARL13B (G67R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296758	NM_001174150.2(ARL13B):c.978G>T (p.Gln326His)	ARL13B (Q219H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288477	NM_001174150.2(ARL13B):c.274dup (p.Val92fs)	ARL13B (V77fs +1 more)	Duplication (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 2286403	NM_001001850.3(STX19):c.743A>G (p.Asn248Ser)	ARL13B, STX19 (N248S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279904	NM_001174150.2(ARL13B):c.489A>C (p.Glu163Asp)	ARL13B (E56D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251843	NM_001001850.3(STX19):c.201T>A (p.Asn67Lys)	ARL13B, STX19 (N67K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234983	NM_001174150.2(ARL13B):c.713C>A (p.Ala238Asp)	ARL13B (A135D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203408	NM_001174150.2(ARL13B):c.223G>A (p.Gly75Arg)	ARL13B (G60R +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GPathogenic
Select item 2201007	NM_001174150.2(ARL13B):c.1250A>C (p.Gln417Pro)	ARL13B (Q314P +4 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2191447	NM_001174150.2(ARL13B):c.778A>G (p.Ile260Val)	ARL13B (I245V +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2187634	NM_001174150.2(ARL13B):c.1211-18T>C	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2184526	NM_001174150.2(ARL13B):c.730A>G (p.Ser244Gly)	ARL13B (S141G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2180343	NM_001174150.2(ARL13B):c.1210+14A>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2179880	NM_001174150.2(ARL13B):c.910G>A (p.Val304Ile)	ARL13B (V197I +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2176910	NM_001174150.2(ARL13B):c.550del (p.Tyr184fs)	ARL13B (Y184fs +3 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 8	GPathogenic
Select item 2168487	NM_001174150.2(ARL13B):c.486+13T>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2166046	NM_001174150.2(ARL13B):c.18C>T (p.Ala6=)	ARL13B	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 8	GLikely benign
Select item 2163363	NM_001174150.2(ARL13B):c.1024+6_1024+9del	ARL13B	Deletion (intron variant)	Joubert syndrome 8	GUncertain significance
Select item 2163309	NM_001174150.2(ARL13B):c.59+20C>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2159757	NM_001174150.2(ARL13B):c.286G>T (p.Val96Leu)	ARL13B (V96L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2157303	NM_001174150.2(ARL13B):c.1132C>G (p.Pro378Ala)	ARL13B (P271A +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2154227	NM_001174150.2(ARL13B):c.1268C>T (p.Ala423Val)	ARL13B (A316V +4 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2153372	NM_001174150.2(ARL13B):c.487G>C (p.Glu163Gln)	ARL13B (E56Q +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2148367	NM_001174150.2(ARL13B):c.1025-20T>C	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2146692	NM_001174150.2(ARL13B):c.60-18A>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2140201	NM_001174150.2(ARL13B):c.1210+9A>T	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2134556	NM_001174150.2(ARL13B):c.1144G>T (p.Gly382Cys)	ARL13B (G382C +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2131959	NM_001174150.2(ARL13B):c.688A>G (p.Arg230Gly)	ARL13B (R127G +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2131152	NM_001174150.2(ARL13B):c.277A>G (p.Ile93Val)	ARL13B (I93V +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2123318	NM_001174150.2(ARL13B):c.362C>T (p.Ser121Leu)	ARL13B (S18L +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2119033	NM_001174150.2(ARL13B):c.130+7T>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2111689	NM_001174150.2(ARL13B):c.200T>G (p.Val67Gly)	ARL13B (V52G +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2096896	NM_001174150.2(ARL13B):c.206T>A (p.Ile69Asn)	ARL13B (I69N +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2094888	NM_001174150.2(ARL13B):c.59+15G>A	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2093938	NM_001174150.2(ARL13B):c.798+4T>C	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GUncertain significance
Select item 2083176	NM_001174150.2(ARL13B):c.533C>A (p.Ser178Tyr)	ARL13B (S178Y +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2053319	NM_001174150.2(ARL13B):c.1141+1G>A	ARL13B	Single nucleotide variant (splice donor variant)	Joubert syndrome 8	GLikely pathogenic
Select item 2049298	NM_001174150.2(ARL13B):c.847G>C (p.Asp283His)	ARL13B (D176H +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2042528	NM_001174150.2(ARL13B):c.76A>G (p.Met26Val)	ARL13B (M26V)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 8	GUncertain significance
Select item 2040201	NM_001174150.2(ARL13B):c.807A>G (p.Gly269=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign

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