ClinVar for Gene (Select 3728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379370	NM_002230.4(JUP):c.187C>T (p.Gln63Ter)	JUP (Q63*)	Single nucleotide variant (nonsense)	Naxos disease	GLikely pathogenic
Select item 3364624	NM_002230.4(JUP):c.1217A>G (p.Asn406Ser)	JUP (N406S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363362	NM_002230.4(JUP):c.2187C>T (p.Tyr729=)	JUP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3354826	NM_002230.4(JUP):c.595C>G (p.Leu199Val)	JUP (L199V)	Single nucleotide variant (missense variant)	JUP-related disorder	GUncertain significance
Select item 3287297	NM_002230.4(JUP):c.294C>G (p.Ser98Arg)	JUP (S98R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287296	NM_002230.4(JUP):c.275G>T (p.Gly92Val)	JUP (G92V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287295	NM_002230.4(JUP):c.2139G>T (p.Pro713=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3287294	NM_002230.4(JUP):c.1492G>A (p.Val498Ile)	JUP (V498I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287293	NM_002230.4(JUP):c.1329G>A (p.Leu443=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3287292	NM_002230.4(JUP):c.498G>A (p.Val166=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3287291	NM_002230.4(JUP):c.512A>G (p.Lys171Arg)	JUP (K171R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287290	NM_002230.4(JUP):c.1891A>G (p.Met631Val)	JUP (M631V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287289	NM_002230.4(JUP):c.1981C>A (p.Arg661=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3287288	NM_002230.4(JUP):c.262G>A (p.Ala88Thr)	JUP (A88T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287287	NM_002230.4(JUP):c.263C>A (p.Ala88Asp)	JUP (A88D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3243062	NC_000017.10:g.(?_39923611)_(39928106_?)dup	JUP	Duplication	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3222016	NM_002230.4(JUP):c.934C>T (p.Pro312Ser)	JUP (P312S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222014	NM_002230.4(JUP):c.830T>A (p.Leu277His)	JUP (L277H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222013	NM_002230.4(JUP):c.830_831delinsAT (p.Leu277His)	JUP (L277H)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222012	NM_002230.4(JUP):c.807G>C (p.Gly269=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222011	NM_002230.4(JUP):c.414G>C (p.Glu138Asp)	JUP (E138D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222010	NM_002230.4(JUP):c.36G>T (p.Lys12Asn)	JUP (K12N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222009	NM_002230.4(JUP):c.229T>C (p.Ser77Pro)	JUP (S77P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222008	NM_002230.4(JUP):c.2147T>G (p.Met716Arg)	JUP (M716R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222006	NM_002230.4(JUP):c.1596G>A (p.Val532=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222004	NM_002230.4(JUP):c.1097C>A (p.Pro366His)	JUP (P366H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3112572	NM_002230.4(JUP):c.1303G>A (p.Val435Met)	JUP (V435M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3075754	NM_002230.4(JUP):c.1408G>T (p.Glu470Ter)	JUP (E470*)	Single nucleotide variant (nonsense)	Naxos disease	GLikely pathogenic
Select item 3075753	NM_002230.4(JUP):c.1827_1828del (p.Cys609_Glu610delinsTer)	JUP	Microsatellite (nonsense)	Naxos disease	GLikely pathogenic
Select item 3064471	NM_002230.4(JUP):c.1694G>C (p.Gly565Ala)	JUP (G565A)	Single nucleotide variant (missense variant)	Naxos disease	GUncertain significance
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 3041914	NM_002230.4(JUP):c.708-3del	JUP	Deletion (intron variant)	JUP-related disorder	GLikely benign
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)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GPathogenic
Select item 2953037	NM_002230.4(JUP):c.1713C>A (p.Ala571=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2952610	NM_002230.4(JUP):c.433C>T (p.Pro145Ser)	JUP (P145S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2952427	NM_002230.4(JUP):c.1432C>T (p.Leu478Phe)	JUP (L478F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2952028	NM_002230.4(JUP):c.1551G>T (p.Pro517=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +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)	Naxos disease +1 more	GUncertain significance
Select item 2945479	NM_002230.4(JUP):c.2238G>A (p.Ter746=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2945376	NM_002230.4(JUP):c.910-14C>T	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2944055	NM_002230.4(JUP):c.132G>A (p.Glu44=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2943967	NM_002230.4(JUP):c.1215C>A (p.Val405=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2943847	NM_002230.4(JUP):c.1179G>A (p.Leu393=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2943479	NM_002230.4(JUP):c.1269C>T (p.Ser423=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2942872	NM_002230.4(JUP):c.266T>A (p.Met89Lys)	JUP (M89K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2942683	NM_002230.4(JUP):c.1268G>A (p.Ser423Asn)	JUP (S423N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2942416	NM_002230.4(JUP):c.648G>A (p.Arg216=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 2942171	NM_002230.4(JUP):c.1825T>C (p.Cys609Arg)	JUP (C609R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2941974	NM_002230.4(JUP):c.154C>A (p.Gln52Lys)	JUP (Q52K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 2941833	NM_002230.4(JUP):c.1695A>G (p.Gly565=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +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)	Naxos disease +1 more	GUncertain significance
Select item 2939349	NM_002230.4(JUP):c.2016C>T (p.Leu672=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2939224	NM_002230.4(JUP):c.2002C>T (p.Leu668Phe)	JUP (L668F)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2938982	NM_002230.4(JUP):c.188A>G (p.Gln63Arg)	JUP (Q63R)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2938903	NM_002230.4(JUP):c.1759C>T (p.Pro587Ser)	JUP (P587S)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2938819	NM_002230.4(JUP):c.1638A>G (p.Thr546=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +2 more	GLikely benign
Select item 2938760	NM_002230.4(JUP):c.1301G>A (p.Gly434Asp)	JUP (G434D)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2938544	NM_002230.4(JUP):c.1158+11T>C	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GLikely benign
Select item 2937961	NM_002230.4(JUP):c.2100C>G (p.Thr700=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2937864	NM_002230.4(JUP):c.1597A>G (p.Lys533Glu)	JUP (K533E)	Single nucleotide variant (missense variant)	Naxos disease +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

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