ClinVar for MedGen (Select 436772) - 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 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 (synonymous variant +3 more)	Joubert syndrome 8	GLikely benign
Select item 2821955	NM_001174150.2(ARL13B):c.1284A>C (p.Ser428=)	ARL13B	Single nucleotide variant (synonymous 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 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	ARL13B, PROS1	Duplication	Joubert syndrome 8	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 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 (missense 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 (missense 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
Select item 2035764	NM_001174150.2(ARL13B):c.538A>T (p.Lys180Ter)	ARL13B (K165* +3 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 8	GPathogenic
Select item 2026275	NM_001174150.2(ARL13B):c.1211-5_1211-4del	ARL13B	Deletion (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2023514	NM_001174150.2(ARL13B):c.648A>G (p.Lys216=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 2004487	NM_001174150.2(ARL13B):c.466C>T (p.His156Tyr)	ARL13B (H156Y +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2003252	NM_001174150.2(ARL13B):c.721G>T (p.Asp241Tyr)	ARL13B (D241Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2001012	NM_001174150.2(ARL13B):c.607_609del (p.Lys203del)	ARL13B (K188del +3 more)	Deletion (inframe_deletion +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2000652	NM_001174150.2(ARL13B):c.1020A>T (p.Glu340Asp)	ARL13B (E233D +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 1972598	NM_001174150.2(ARL13B):c.823A>G (p.Lys275Glu)	ARL13B (K168E +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 1967016	NM_001174150.2(ARL13B):c.1_4delACAA	ARL13B	Deletion (no sequence alteration +1 more)	Joubert syndrome 8	GUncertain significance
Select item 1966857	NM_001174150.2(ARL13B):c.269A>G (p.Tyr90Cys)	ARL13B (Y90C +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1962933	NM_001174150.2(ARL13B):c.477G>T (p.Leu159=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 1947220	NM_001174150.2(ARL13B):c.59+16C>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GUncertain significance
Select item 1945355	NM_001174150.2(ARL13B):c.127G>C (p.Gly43Arg)	ARL13B (G43R)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 8	GUncertain significance
Select item 1918285	NM_001174150.2(ARL13B):c.415G>A (p.Gly139Arg)	ARL13B (G36R +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 1912230	NM_001174150.2(ARL13B):c.70C>T (p.Leu24Phe)	ARL13B (L24F)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 8	GUncertain significance
Select item 1908340	NM_001174150.2(ARL13B):c.899C>T (p.Thr300Ile)	ARL13B (T197I +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 1901752	NM_001174150.2(ARL13B):c.59+20C>T	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GBenign
Select item 1898813	NM_001174150.2(ARL13B):c.629C>T (p.Ala210Val)	ARL13B (A103V +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 1897613	NM_001174150.2(ARL13B):c.238G>A (p.Gly80Arg)	ARL13B (G65R +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1896131	NM_001174150.2(ARL13B):c.830del (p.Asn277fs)	ARL13B (N170fs +3 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 8	GPathogenic
Select item 1713530	NM_001174150.2(ARL13B):c.1071C>G (p.His357Gln)	ARL13B (H250Q +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 1669576	NM_001174150.2(ARL13B):c.689+12_689+13delinsCC	ARL13B	Indel (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1669575	NM_001174150.2(ARL13B):c.689+8_689+11del	ARL13B	Deletion (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1668051	NM_001174150.2(ARL13B):c.59+18G>C	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1644774	NM_001174150.2(ARL13B):c.1210+16del	ARL13B	Deletion (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1636739	NM_001174150.2(ARL13B):c.819A>G (p.Arg273=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 1633699	NM_001174150.2(ARL13B):c.59+14A>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1623371	NM_001174150.2(ARL13B):c.1024+10C>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1620899	NM_001174150.2(ARL13B):c.1248A>G (p.Pro416=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 1619491	NM_001174150.2(ARL13B):c.487-11T>C	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1619392	NM_001174150.2(ARL13B):c.1210+8A>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1614479	NM_001174150.2(ARL13B):c.57C>A (p.Val19=)	ARL13B	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 8	GLikely benign
Select item 1613511	NM_001174150.2(ARL13B):c.1211-10C>T	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1609595	NM_001174150.2(ARL13B):c.486+12T>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1608594	NM_001174150.2(ARL13B):c.689+13A>T	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1607390	NM_001174150.2(ARL13B):c.798+8T>C	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1607033	NM_001174150.2(ARL13B):c.429C>T (p.Val143=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 1605025	NM_001174150.2(ARL13B):c.1050A>G (p.Lys350=)	ARL13B	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 8	GLikely benign
Select item 1602033	NM_001174150.2(ARL13B):c.6C>T (p.Phe2=)	ARL13B	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 8	GLikely benign

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