ClinVar for MedGen (Select 482527) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3010031	NM_018718.3(CEP41):c.741C>A (p.Leu247=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2991777	NM_018718.3(CEP41):c.30T>G (p.Pro10=)	CEP41	Single nucleotide variant (non-coding transcript variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2915179	NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)	CEP41 (N78S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2904369	NM_018718.3(CEP41):c.208-5A>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2887128	NM_018718.3(CEP41):c.974-19TCTT[3]	CEP41	Microsatellite (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2878492	NM_018718.3(CEP41):c.145+16G>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2802747	NM_018718.3(CEP41):c.33+16C>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2798808	NM_018718.3(CEP41):c.33+10A>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2797736	NM_018718.3(CEP41):c.757+16C>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2796317	NM_018718.3(CEP41):c.98-8C>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2788811	NM_018718.3(CEP41):c.1042C>T (p.Leu348=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2756696	NM_018718.3(CEP41):c.643-7C>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2752461	NM_018718.3(CEP41):c.98-2A>G	CEP41	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 15	GLikely pathogenic
Select item 2743140	NM_018718.3(CEP41):c.208-6T>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2740806	NM_018718.3(CEP41):c.880del (p.Leu294fs)	CEP41 (L294fs)	Deletion (frameshift variant +2 more)	Joubert syndrome 15	GPathogenic
Select item 2727682	NM_018718.3(CEP41):c.672G>C (p.Leu224=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2721432	NM_018718.3(CEP41):c.327C>T (p.Thr109=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2710394	NM_018718.3(CEP41):c.974-11G>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2198516	NM_018718.3(CEP41):c.738C>T (p.Asn246=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2194602	NM_018718.3(CEP41):c.1044G>T (p.Leu348=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2194096	NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)	CEP41	Deletion (frameshift variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2194034	NM_018718.3(CEP41):c.831C>G (p.Ala277=)	CEP41	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 15 +1 more	GLikely benign
Select item 2170122	NM_018718.3(CEP41):c.208A>G (p.Ile70Val)	CEP41 (I54V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2169344	NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)	CEP41 (D210E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2168627	NM_018718.3(CEP41):c.360G>A (p.Pro120=)	CEP41	Single nucleotide variant (synonymous variant)	Joubert syndrome 15	GLikely benign
Select item 2152882	NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)	CEP41 (S121R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 15	GUncertain significance
Select item 2143575	NM_018718.3(CEP41):c.423T>C (p.Ser141=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2135667	NM_018718.3(CEP41):c.974-14C>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2133875	NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)	CEP41 (K54N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2131693	NM_018718.3(CEP41):c.477del (p.Glu160fs)	CEP41 (E160fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 15	GPathogenic
Select item 2130464	NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)	CEP41 (Q89R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2130448	NM_018718.3(CEP41):c.999C>T (p.Ser333=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2122285	NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)	CEP41 (D166E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2117134	NM_018718.3(CEP41):c.108G>T (p.Met36Ile)	CEP41 (M36I)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 2113970	NM_018718.3(CEP41):c.278-9A>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2111766	NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)	CEP41 (S35G)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 2111395	NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)	CEP41 (P18S)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2108640	NM_018718.3(CEP41):c.97+12T>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2108182	NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)	CEP41 (S35N)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 2106574	NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)	CEP41 (Q124P +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 15	GUncertain significance
Select item 2103805	NM_018718.3(CEP41):c.643-9del	CEP41	Deletion (intron variant)	Joubert syndrome 15	GUncertain significance
Select item 2090863	NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)	CEP41 (P104R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 15	GUncertain significance
Select item 2090457	NM_018718.3(CEP41):c.438T>G (p.Val146=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2077915	NM_018718.3(CEP41):c.720C>T (p.Cys240=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2077332	NM_018718.3(CEP41):c.298G>C (p.Asp100His)	CEP41 (D100H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2073493	NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)	CEP41 (K46Q +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2054416	NM_018718.3(CEP41):c.34-14del	CEP41	Deletion (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2034522	NM_018718.3(CEP41):c.33+20C>A	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2029342	NM_018718.3(CEP41):c.162A>G (p.Lys54=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 2023276	NM_018718.3(CEP41):c.422+5T>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GUncertain significance
Select item 2020309	NM_018718.3(CEP41):c.575-19C>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 2018329	NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)	CEP41 (R5K)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 2017515	NM_018718.3(CEP41):c.574+7G>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1998764	NM_018718.3(CEP41):c.98-20A>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1996264	NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)	CEP41 (S273Y +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1993349	NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)	CEP41 (D33N +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1985789	NM_018718.3(CEP41):c.34-17A>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1983348	NM_018718.3(CEP41):c.277+17G>A	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1958588	NM_018718.3(CEP41):c.757+2T>A	CEP41	Single nucleotide variant (splice donor variant)	Joubert syndrome 15	GLikely pathogenic
Select item 1955789	NM_018718.3(CEP41):c.423-9C>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1955139	NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)	CEP41 (P340A +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1950743	NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)	CEP41 (P287S +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1948397	NM_018718.3(CEP41):c.129C>G (p.Leu43=)	CEP41	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 15	GLikely benign
Select item 1944076	NM_018718.3(CEP41):c.568G>T (p.Val190Phe)	CEP41 (V174F +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1937165	NM_018718.3(CEP41):c.180A>G (p.Arg60=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1920652	NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)	CEP41 (D322G)	Single nucleotide variant (non-coding transcript variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1912869	NM_018718.3(CEP41):c.145+7A>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1878640	NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)	CEP41 (R286*)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome 15 +1 more	GPathogenic/Likely pathogenic
Select item 1716562	NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)	CEP41 (L65P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1715812	NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)	CEP41 (G319W)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1715370	NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)	CEP41 (D100G +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1714906	NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)	CEP41 (S178N +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1714273	NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)	CEP41 (Y23N)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1671822	NM_018718.3(CEP41):c.225C>T (p.Ser75=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1667065	NM_018718.3(CEP41):c.208-17A>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1666865	NM_018718.3(CEP41):c.33+9C>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1657686	NM_018718.3(CEP41):c.98-8C>A	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1656881	NM_018718.3(CEP41):c.1053C>T (p.Gly351=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1656242	NM_018718.3(CEP41):c.468G>A (p.Val156=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1635305	NM_018718.3(CEP41):c.277+16G>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1632059	NM_018718.3(CEP41):c.423-4G>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1616878	NM_018718.3(CEP41):c.973+16C>A	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1614218	NM_018718.3(CEP41):c.411A>G (p.Ser137=)	CEP41	Single nucleotide variant (synonymous variant)	Joubert syndrome 15	GLikely benign
Select item 1614160	NM_018718.3(CEP41):c.1062C>T (p.Ala354=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1613094	NM_018718.3(CEP41):c.643-16del	CEP41	Deletion (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1590994	NM_018718.3(CEP41):c.277+19G>A	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1578995	NM_018718.3(CEP41):c.205C>T (p.Leu69=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1578011	NM_018718.3(CEP41):c.753C>T (p.Ser251=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1572925	NM_018718.3(CEP41):c.973+11T>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1572262	NM_018718.3(CEP41):c.954A>G (p.Gln318=)	CEP41	Single nucleotide variant (intron variant +2 more)	Joubert syndrome 15	GLikely benign
Select item 1556601	NM_018718.3(CEP41):c.643-12T>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1555123	NM_018718.3(CEP41):c.146-18T>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1535924	NM_018718.3(CEP41):c.513C>T (p.Cys171=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign
Select item 1528706	NM_018718.3(CEP41):c.145+16G>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1528317	NM_018718.3(CEP41):c.757+12G>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1525295	NM_018718.3(CEP41):c.146-11A>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15	GLikely benign
Select item 1519127	NM_018718.3(CEP41):c.929T>A (p.Ile310Lys)	CEP41 (I310K)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15	GUncertain significance
Select item 1518972	NM_018718.3(CEP41):c.13A>G (p.Arg5Gly)	CEP41 (R5G)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1516904	NM_018718.3(CEP41):c.499C>T (p.Pro167Ser)	CEP41 (P151S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 1515843	NM_018718.3(CEP41):c.213C>T (p.Ile71=)	CEP41	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 15	GLikely benign

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