ClinVar for MedGen (Select 409749) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954473	NM_002230.4(JUP):c.1320T>A (p.His440Gln)	JUP (H440Q)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2954036	NM_002230.4(JUP):c.910-19A>G	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2953800	NM_002230.4(JUP):c.1395C>T (p.Arg465=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2953704	NM_002230.4(JUP):c.208+14G>A	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2953146	NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)	JUP (W374*)	Single nucleotide variant (nonsense)	Naxos disease +1 more	GPathogenic
Select item 2953037	NM_002230.4(JUP):c.1713C>A (p.Ala571=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2952610	NM_002230.4(JUP):c.433C>T (p.Pro145Ser)	JUP (P145S)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GLikely benign
Select item 2952427	NM_002230.4(JUP):c.1432C>T (p.Leu478Phe)	JUP (L478F)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2952028	NM_002230.4(JUP):c.1551G>T (p.Pro517=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2951111	NM_002230.4(JUP):c.98G>T (p.Cys33Phe)	JUP (C33F)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2950737	NM_002230.4(JUP):c.1054+14C>T	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2950558	NM_002230.4(JUP):c.536T>A (p.Leu179Gln)	JUP (L179Q)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2950393	NM_002230.4(JUP):c.2032G>A (p.Ala678Thr)	JUP (A678T)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2950067	NM_002230.4(JUP):c.57A>G (p.Thr19=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2950057	NM_002230.4(JUP):c.1096C>T (p.Pro366Ser)	JUP (P366S)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2950055	NM_002230.4(JUP):c.1738A>T (p.Ile580Phe)	JUP (I580F)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2949923	NM_002230.4(JUP):c.626T>A (p.Leu209Gln)	JUP (L209Q)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2949831	NM_002230.4(JUP):c.162G>T (p.Thr54=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2949585	NM_002230.4(JUP):c.855G>A (p.Leu285=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2949350	NM_002230.4(JUP):c.1654-2A>G	JUP	Single nucleotide variant (splice acceptor variant)	Naxos disease +1 more	GLikely pathogenic
Select item 2949293	NM_002230.4(JUP):c.469-13dup	JUP	Duplication (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2949256	NM_002230.4(JUP):c.565G>C (p.Val189Leu)	JUP (V189L)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2948163	NM_002230.4(JUP):c.1000G>A (p.Val334Met)	JUP (V334M)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2948007	NM_002230.4(JUP):c.1960G>A (p.Glu654Lys)	JUP (E654K)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2947469	NM_002230.4(JUP):c.1442G>T (p.Gly481Val)	JUP (G481V)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2947233	NM_002230.4(JUP):c.96C>T (p.Thr32=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2947090	NM_002230.4(JUP):c.177C>G (p.Thr59=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2946944	NM_002230.4(JUP):c.484G>A (p.Ala162Thr)	JUP (A162T)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2946893	NM_002230.4(JUP):c.468+8A>G	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2946664	NM_002230.4(JUP):c.2046+15T>G	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2946457	NM_002230.4(JUP):c.2086+19C>T	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2945528	NM_002230.4(JUP):c.25C>G (p.Gln9Glu)	JUP (Q9E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2945479	NM_002230.4(JUP):c.2238G>A (p.Ter746=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2945376	NM_002230.4(JUP):c.910-14C>T	JUP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2944055	NM_002230.4(JUP):c.132G>A (p.Glu44=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2943967	NM_002230.4(JUP):c.1215C>A (p.Val405=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2943847	NM_002230.4(JUP):c.1179G>A (p.Leu393=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2943479	NM_002230.4(JUP):c.1269C>T (p.Ser423=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2942872	NM_002230.4(JUP):c.266T>A (p.Met89Lys)	JUP (M89K)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2942683	NM_002230.4(JUP):c.1268G>A (p.Ser423Asn)	JUP (S423N)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2942416	NM_002230.4(JUP):c.648G>A (p.Arg216=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2942171	NM_002230.4(JUP):c.1825T>C (p.Cys609Arg)	JUP (C609R)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2941974	NM_002230.4(JUP):c.154C>A (p.Gln52Lys)	JUP (Q52K)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2941833	NM_002230.4(JUP):c.1695A>G (p.Gly565=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2941611	NM_002230.4(JUP):c.559G>A (p.Ala187Thr)	JUP (A187T)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2941511	NM_002230.4(JUP):c.1635C>T (p.Gly545=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GUncertain significance
Select item 2941430	NM_002230.4(JUP):c.915C>A (p.Ile305=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2941393	NM_002230.4(JUP):c.1924+7T>C	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2940715	NM_002230.4(JUP):c.657G>A (p.Leu219=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2940410	NM_002230.4(JUP):c.1653+16G>A	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2940127	NM_002230.4(JUP):c.1498-10T>C	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2940018	NM_002230.4(JUP):c.1548C>G (p.Ala516=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2939752	NM_002230.4(JUP):c.1193A>G (p.Asn398Ser)	JUP (N398S)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2939495	NM_002230.4(JUP):c.468+18C>G	JUP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2939349	NM_002230.4(JUP):c.2016C>T (p.Leu672=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2939224	NM_002230.4(JUP):c.2002C>T (p.Leu668Phe)	JUP (L668F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2938982	NM_002230.4(JUP):c.188A>G (p.Gln63Arg)	JUP (Q63R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2938903	NM_002230.4(JUP):c.1759C>T (p.Pro587Ser)	JUP (P587S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2938819	NM_002230.4(JUP):c.1638A>G (p.Thr546=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2938760	NM_002230.4(JUP):c.1301G>A (p.Gly434Asp)	JUP (G434D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2938544	NM_002230.4(JUP):c.1158+11T>C	JUP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2937961	NM_002230.4(JUP):c.2100C>G (p.Thr700=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2937864	NM_002230.4(JUP):c.1597A>G (p.Lys533Glu)	JUP (K533E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2937588	NM_002230.4(JUP):c.1384C>T (p.Leu462Phe)	JUP (L462F)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2937541	NM_002230.4(JUP):c.1054+15C>T	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2937330	NM_002230.4(JUP):c.1057G>A (p.Gly353Arg)	JUP (G353R)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2937230	NM_002230.4(JUP):c.828G>C (p.Leu276=)	JUP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2937213	NM_002230.4(JUP):c.1777C>T (p.Leu593=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2936583	NM_002230.4(JUP):c.1351A>G (p.Ile451Val)	JUP (I451V)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2936465	NM_002230.4(JUP):c.655C>T (p.Leu219=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2936160	NM_002230.4(JUP):c.2197C>T (p.Leu733Phe)	JUP (L733F)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2936048	NM_002230.4(JUP):c.1139C>T (p.Ser380Leu)	JUP (S380L)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2935926	NM_002230.4(JUP):c.1170G>T (p.Glu390Asp)	JUP (E390D)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GLikely benign
Select item 2935763	NM_002230.4(JUP):c.177C>T (p.Thr59=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2935646	NM_002230.4(JUP):c.1549C>T (p.Pro517Ser)	JUP (P517S)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2935365	NM_002230.4(JUP):c.121G>A (p.Gly41Ser)	JUP (G41S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2934921	NM_002230.4(JUP):c.1743C>T (p.Phe581=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2934857	NM_002230.4(JUP):c.1774-17A>C	JUP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2934414	NM_002230.4(JUP):c.1055-11C>A	JUP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2933757	NM_002230.4(JUP):c.1512G>T (p.Leu504Phe)	JUP (L504F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2933719	NM_002230.4(JUP):c.1054+3G>A	JUP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2933182	NM_002230.4(JUP):c.970T>C (p.Tyr324His)	JUP (Y324H)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2933172	NM_002230.4(JUP):c.1574C>T (p.Pro525Leu)	JUP (P525L)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2933113	NM_002230.4(JUP):c.1762C>G (p.Leu588Val)	JUP (L588V)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2932409	NM_002230.4(JUP):c.1036C>T (p.Pro346Ser)	JUP (P346S)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2932083	NM_002230.4(JUP):c.1895A>G (p.Glu632Gly)	JUP (E632G)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2931891	NM_002230.4(JUP):c.208+15G>A	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2931810	NM_002230.4(JUP):c.315G>T (p.Gln105His)	JUP (Q105H)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2931541	NM_002230.4(JUP):c.664A>G (p.Ile222Val)	JUP (I222V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2931316	NM_002230.4(JUP):c.1389T>C (p.Thr463=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2931031	NM_002230.4(JUP):c.1097C>T (p.Pro366Leu)	JUP (P366L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2930759	NM_002230.4(JUP):c.133G>A (p.Glu45Lys)	JUP (E45K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2930592	NM_002230.4(JUP):c.2046+19A>G	JUP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2930573	NM_002230.4(JUP):c.1431T>A (p.Arg477=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2930561	NM_002230.4(JUP):c.1360C>T (p.Pro454Ser)	JUP (P454S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2930513	NM_002230.4(JUP):c.337C>T (p.Leu113=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2930499	NM_002230.4(JUP):c.1987C>T (p.Arg663Cys)	JUP (R663C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2930259	NM_002230.4(JUP):c.2047-17TC[3]	JUP	Microsatellite (intron variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2929876	NM_002230.4(JUP):c.873C>A (p.Cys291Ter)	JUP (C291*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GPathogenic
Select item 2929782	NM_002230.4(JUP):c.1692C>G (p.Thr564=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign

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