"Fulgent Genetics, Fulgent Genetics"[submitter] AND "JUP"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 323147	NM_002230.3(JUP):c.*1136C>T	JUP	Single nucleotide variant	Naxos disease +1 more	GUncertain significance
Select item 889387	NM_002230.4(JUP):c.*1026G>A	JUP	Single nucleotide variant (3 prime UTR variant)	Naxos disease +1 more	GUncertain significance
Select item 890077	NM_002230.4(JUP):c.*906A>C	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 323148	NM_002230.4(JUP):c.*771G>C	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 889440	NM_002230.4(JUP):c.*413C>T	JUP	Single nucleotide variant (3 prime UTR variant)	Naxos disease +1 more	GUncertain significance
Select item 1016429	NM_002230.4(JUP):c.2227A>G (p.Met743Val)	JUP (M743V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 45847	NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)	JUP (P736L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 837932	NM_002230.4(JUP):c.2194G>A (p.Gly732Ser)	JUP (G732S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1118716	NM_002230.4(JUP):c.2193C>T (p.Asp731=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 860683	NM_002230.4(JUP):c.2153T>C (p.Met718Thr)	JUP (M718T)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 468749	NM_002230.4(JUP):c.2128C>T (p.Pro710Ser)	JUP (P710S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GUncertain significance
Select item 178849	NM_002230.4(JUP):c.2105G>A (p.Arg702His)	JUP (R702H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +6 more	GUncertain significance
Select item 668373	NM_002230.4(JUP):c.2087-18C>T	JUP	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1013389	NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys)	JUP (Y693C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 163710	NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)	JUP (N690S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 950739	NM_002230.4(JUP):c.2060T>C (p.Ile687Thr)	JUP (I687T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 45844	NM_002230.4(JUP):c.2059A>G (p.Ile687Val)	JUP (I687V)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 933524	NM_002230.4(JUP):c.2055C>T (p.Ser685=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GConflicting classifications of pathogenicity
Select item 392309	NM_002230.4(JUP):c.2030C>T (p.Pro677Leu)	JUP (P677L)	Single nucleotide variant (missense variant)	Naxos disease +3 more	GConflicting classifications of pathogenicity
Select item 1414235	NM_002230.4(JUP):c.1948T>C (p.Phe650Leu)	JUP (F650L)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 179306	NM_002230.4(JUP):c.1933G>A (p.Ala645Thr)	JUP (A645T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 323165	NM_002230.4(JUP):c.1912A>C (p.Asn638His)	JUP (N638H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +4 more	GConflicting classifications of pathogenicity
Select item 179915	NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)	JUP (R637C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +4 more	GConflicting classifications of pathogenicity
Select item 180377	NM_002230.4(JUP):c.1882G>A (p.Ala628Thr)	JUP (A628T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GConflicting classifications of pathogenicity
Select item 1039940	NM_002230.4(JUP):c.1865A>T (p.Asp622Val)	JUP (D622V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 191670	NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)	JUP (I621T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45841	NM_002230.4(JUP):c.1849G>A (p.Ala617Thr)	JUP (A617T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 930073	NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)	JUP (R582W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 468747	NM_002230.4(JUP):c.1729C>T (p.Arg577Cys)	JUP (R577C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 468746	NM_002230.4(JUP):c.1714C>T (p.Arg572Trp)	JUP (R572W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 536627	NM_002230.4(JUP):c.1653G>A (p.Thr551=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 201825	NM_002230.4(JUP):c.1582G>A (p.Val528Ile)	JUP (V528I)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 519401	NM_002230.4(JUP):c.1576C>T (p.Arg526Cys)	JUP (R526C)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GConflicting classifications of pathogenicity
Select item 1057877	NM_002230.4(JUP):c.1490T>G (p.Leu497Arg)	JUP (L497R)	Single nucleotide variant (missense variant)	Naxos disease +3 more	GUncertain significance
Select item 647686	NM_002230.4(JUP):c.1430G>A (p.Arg477His)	JUP (R477H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 933973	NM_002230.4(JUP):c.1359G>T (p.Glu453Asp)	JUP (E453D)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 201824	NM_002230.4(JUP):c.1355C>T (p.Thr452Met)	JUP (T452M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GUncertain significance
Select item 201823	NM_002230.4(JUP):c.1354A>T (p.Thr452Ser)	JUP (T452S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +3 more	GUncertain significance
Select item 942981	NM_002230.4(JUP):c.1336G>T (p.Gly446Cys)	JUP (G446C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 45833	NM_002230.4(JUP):c.1331G>A (p.Arg444His)	JUP (R444H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 504992	NM_002230.4(JUP):c.1290A>G (p.Thr430=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 409983	NM_002230.4(JUP):c.1129C>A (p.Arg377Ser)	JUP (R377S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 632863	NM_002230.4(JUP):c.1128G>A (p.Leu376=)	JUP	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 201821	NM_002230.4(JUP):c.1099C>G (p.Arg367Gly)	JUP (R367G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +3 more	GUncertain significance
Select item 1473502	NM_002230.4(JUP):c.1040C>T (p.Ala347Val)	JUP (A347V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 234601	NM_002230.4(JUP):c.1039G>A (p.Ala347Thr)	JUP (A347T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 155802	NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)	JUP (K345N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 163720	NM_002230.4(JUP):c.998G>A (p.Arg333His)	JUP (R333H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +4 more	GUncertain significance
Select item 1416925	NM_002230.4(JUP):c.964T>C (p.Tyr322His)	JUP (Y322H)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 409982	NM_002230.4(JUP):c.959G>A (p.Arg320His)	JUP (R320H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 577963	NM_002230.4(JUP):c.859A>G (p.Ile287Val)	JUP (I287V)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 201832	NM_002230.4(JUP):c.849G>T (p.Lys283Asn)	JUP (K283N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +3 more	GUncertain significance
Select item 836012	NM_002230.4(JUP):c.833A>G (p.Asn278Ser)	JUP (N278S)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 519238	NM_002230.4(JUP):c.820G>A (p.Val274Met)	JUP (V274M)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 201818	NM_002230.4(JUP):c.809T>A (p.Leu270Gln)	JUP (L270Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +4 more	GConflicting classifications of pathogenicity
Select item 212751	NM_002230.4(JUP):c.794G>A (p.Arg265His)	JUP (R265H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 239108	NM_002230.4(JUP):c.764T>G (p.Leu255Arg)	JUP (L255R)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 855914	NM_002230.4(JUP):c.754A>G (p.Asn252Asp)	JUP (N252D)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 191674	NM_002230.4(JUP):c.746C>T (p.Thr249Met)	JUP (T249M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1313144	NM_002230.4(JUP):c.661G>A (p.Ala221Thr)	JUP (A221T)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 853171	NM_002230.4(JUP):c.646C>T (p.Arg216Trp)	JUP (R216W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 572872	NM_002230.4(JUP):c.628C>T (p.His210Tyr)	JUP (H210Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 645672	NM_002230.4(JUP):c.608G>A (p.Arg203His)	JUP (R203H)	Single nucleotide variant (missense variant)	Naxos disease +3 more	GConflicting classifications of pathogenicity
Select item 239107	NM_002230.4(JUP):c.607C>T (p.Arg203Cys)	JUP (R203C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 222661	NM_002230.4(JUP):c.578T>C (p.Met193Thr)	JUP (M193T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 518496	NM_002230.4(JUP):c.572G>A (p.Arg191His)	JUP (R191H)	Single nucleotide variant (missense variant)	Naxos disease +3 more	GUncertain significance
Select item 468757	NM_002230.4(JUP):c.568G>C (p.Val190Leu)	JUP (V190L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GUncertain significance
Select item 1355773	NM_002230.4(JUP):c.533C>T (p.Ala178Val)	JUP (A178V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GUncertain significance
Select item 178044	NM_002230.4(JUP):c.530G>A (p.Arg177Gln)	JUP (R177Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +4 more	GConflicting classifications of pathogenicity
Select item 201813	NM_002230.4(JUP):c.529C>T (p.Arg177Trp)	JUP (R177W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 191675	NM_002230.4(JUP):c.526C>T (p.Arg176Trp)	JUP (R176W)	Single nucleotide variant (missense variant)	Naxos disease +5 more	GConflicting classifications of pathogenicity
Select item 1095358	NM_002230.4(JUP):c.525G>A (p.Ser175=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +3 more	GBenign/Likely benign
Select item 1435077	NM_002230.4(JUP):c.524C>T (p.Ser175Leu)	JUP (S175L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 695780	NM_002230.4(JUP):c.522G>A (p.Ala174=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +2 more	GBenign/Likely benign
Select item 264367	NM_002230.4(JUP):c.521C>T (p.Ala174Val)	JUP (A174V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +3 more	GUncertain significance
Select item 239106	NM_002230.4(JUP):c.510G>A (p.Ser170=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1018467	NM_002230.4(JUP):c.493A>G (p.Ile165Val)	JUP (I165V)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 1517384	NM_002230.4(JUP):c.487G>A (p.Ala163Thr)	JUP (A163T)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 468754	NM_002230.4(JUP):c.475G>T (p.Val159Leu)	JUP (V159L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 212749	NM_002230.4(JUP):c.468G>A (p.Pro156=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 227450	NM_002230.4(JUP):c.459C>T (p.Asp153=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 519355	NM_002230.4(JUP):c.447A>G (p.Lys149=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +2 more	GLikely benign
Select item 661772	NM_002230.4(JUP):c.436G>A (p.Glu146Lys)	JUP (E146K)	Single nucleotide variant (missense variant)	Naxos disease +3 more	GUncertain significance
Select item 201811	NM_002230.4(JUP):c.427G>A (p.Ala143Thr)	JUP (A143T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 632865	NM_002230.4(JUP):c.412G>A (p.Glu138Lys)	JUP (E138K)	Single nucleotide variant (missense variant)	Naxos disease +5 more	GConflicting classifications of pathogenicity
Select item 402991	NM_002230.4(JUP):c.389TCA[1] (p.Ile131del)	JUP (I131del)	Microsatellite (inframe_deletion)	Naxos disease +3 more	GUncertain significance
Select item 191676	NM_002230.4(JUP):c.352G>A (p.Glu118Lys)	JUP (E118K)	Single nucleotide variant (missense variant)	Naxos disease +3 more	GConflicting classifications of pathogenicity
Select item 934561	NM_002230.4(JUP):c.256C>T (p.Arg86Trp)	JUP (R86W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1417055	NM_002230.4(JUP):c.228G>A (p.Met76Ile)	JUP (M76I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1427673	NM_002230.4(JUP):c.211G>T (p.Asp71Tyr)	JUP (D71Y)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 664417	NM_002230.4(JUP):c.148G>A (p.Gly50Arg)	JUP (G50R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1444254	NM_002230.4(JUP):c.143C>A (p.Ala48Asp)	JUP (A48D)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 1314045	NM_002230.4(JUP):c.115A>G (p.Ser39Gly)	JUP (S39G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 836987	NM_002230.4(JUP):c.109G>A (p.Val37Ile)	JUP (V37I)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 468760	NM_002230.4(JUP):c.87C>T (p.Gly29=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 514183	NM_002230.4(JUP):c.84G>A (p.Ser28=)	JUP	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 201806	NM_002230.4(JUP):c.71C>T (p.Ser24Leu)	JUP (S24L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GUncertain significance
Select item 179756	NM_002230.4(JUP):c.56C>T (p.Thr19Ile)	JUP (T19I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +5 more	GConflicting classifications of pathogenicity
Select item 323173	NM_002230.4(JUP):c.-51C>G	JUP, LOC130060847	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 323174	NM_002230.4(JUP):c.-55C>T	JUP, LOC130060847	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance

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Items: 100