"Ambry Genetics"[submitter] AND "JUP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163706	NM_002230.4(JUP):c.*2C>T	JUP	Single nucleotide variant (3 prime UTR variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 743222	NM_002230.4(JUP):c.2230C>T (p.Leu744=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GLikely benign
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 2625421	NM_002230.4(JUP):c.2222A>G (p.Asp741Gly)	JUP (D741G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1339752	NM_002230.4(JUP):c.2220A>G (p.Ala740=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2448233	NM_002230.4(JUP):c.2215A>G (p.Thr739Ala)	JUP (T739A)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GConflicting classifications of pathogenicity
Select item 1787809	NM_002230.4(JUP):c.2214C>T (p.Pro738=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2448234	NM_002230.4(JUP):c.2212C>T (p.Pro738Ser)	JUP (P738S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 519224	NM_002230.4(JUP):c.2208G>T (p.Pro736=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 323161	NM_002230.4(JUP):c.2208G>A (p.Pro736=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GConflicting classifications of pathogenicity
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 1439390	NM_002230.4(JUP):c.2204C>T (p.Pro735Leu)	JUP (P735L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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 958279	NM_002230.4(JUP):c.2191G>A (p.Asp731Asn)	JUP (D731N)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 2191825	NM_002230.4(JUP):c.2190C>T (p.Ser730=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +2 more	GLikely benign
Select item 958935	NM_002230.4(JUP):c.2189G>A (p.Ser730Asn)	JUP (S730N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +3 more	GConflicting classifications of pathogenicity
Select item 1468213	NM_002230.4(JUP):c.2188A>G (p.Ser730Gly)	JUP (S730G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 518649	NM_002230.4(JUP):c.2179G>A (p.Asp727Asn)	JUP (D727N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 45846	NM_002230.4(JUP):c.2178C>T (p.Ile726=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +4 more	GConflicting classifications of pathogenicity
Select item 323162	NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)	JUP	Deletion (inframe_deletion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2625424	NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)	JUP (D721G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GUncertain significance
Select item 1786838	NM_002230.4(JUP):c.2158A>G (p.Met720Val)	JUP (M720V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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 1786758	NM_002230.4(JUP):c.2151C>T (p.His717=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 956454	NM_002230.4(JUP):c.2149C>G (p.His717Asp)	JUP (H717D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +3 more	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 1786652	NM_002230.4(JUP):c.2146A>G (p.Met716Val)	JUP (M716V)	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 382351	NM_002230.4(JUP):c.2139G>A (p.Pro713=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1426717	NM_002230.4(JUP):c.2132T>C (p.Leu711Pro)	JUP (L711P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1786311	NM_002230.4(JUP):c.2125G>A (p.Val709Met)	JUP (V709M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 201805	NM_002230.4(JUP):c.2122G>A (p.Asp708Asn)	JUP (D708N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1567910	NM_002230.4(JUP):c.2121C>T (p.Ser707=)	JUP	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 577292	NM_002230.4(JUP):c.2104C>T (p.Arg702Cys)	JUP (R702C)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 1785788	NM_002230.4(JUP):c.2095G>T (p.Ala699Ser)	JUP (A699S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 21304	NM_002230.4(JUP):c.2089A>T (p.Met697Leu)	JUP (M697L)	Single nucleotide variant (missense variant)	Naxos disease +4 more	GBenign
Select item 1785649	NM_002230.4(JUP):c.2087-4C>A	JUP	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 890757	NM_002230.4(JUP):c.2084A>G (p.Asp695Gly)	JUP (D695G)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
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 1785132	NM_002230.4(JUP):c.2056A>G (p.Met686Val)	JUP (M686V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 263755	NM_002230.4(JUP):c.2046T>A (p.Ala682=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 137961	NM_002230.4(JUP):c.2031G>A (p.Pro677=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +5 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 137960	NM_002230.4(JUP):c.2025T>C (p.His675=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 864527	NM_002230.4(JUP):c.2021A>G (p.Lys674Arg)	JUP (K674R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 648451	NM_002230.4(JUP):c.1996G>T (p.Val666Leu)	JUP (V666L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 323164	NM_002230.4(JUP):c.1995C>T (p.Ser665=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 662884	NM_002230.4(JUP):c.1990G>A (p.Val664Met)	JUP (V664M)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 178039	NM_002230.4(JUP):c.1989C>T (p.Arg663=)	JUP	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 409985	NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)	JUP (R661Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 3287289	NM_002230.4(JUP):c.1981C>A (p.Arg661=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1783815	NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)	JUP (R661W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1948999	NM_002230.4(JUP):c.1972C>T (p.Pro658Ser)	JUP (P658S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 178040	NM_002230.4(JUP):c.1959C>T (p.Ser653=)	JUP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1783309	NM_002230.4(JUP):c.1956C>T (p.Ile652=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2625420	NM_002230.4(JUP):c.1955T>A (p.Ile652Asn)	JUP (I652N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 391157	NM_002230.4(JUP):c.1945C>T (p.Leu649=)	JUP	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 45842	NM_002230.4(JUP):c.1942G>A (p.Val648Ile)	JUP (V648I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 384108	NM_002230.4(JUP):c.1941C>T (p.Ala647=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1542464	NM_002230.4(JUP):c.1938T>C (p.Ala646=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +2 more	GLikely benign
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 390340	NM_002230.4(JUP):c.1932C>T (p.Tyr644=)	JUP	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1429332	NM_002230.4(JUP):c.1927A>G (p.Thr643Ala)	JUP (T643A)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 641014	NM_002230.4(JUP):c.1924+1G>A	JUP	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1782575	NM_002230.4(JUP):c.1915G>A (p.Glu639Lys)	JUP (E639K)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 227448	NM_002230.4(JUP):c.1914C>T (p.Asn638=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
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 2147576	NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)	JUP (R637L)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 178041	NM_002230.4(JUP):c.1910G>A (p.Arg637His)	JUP (R637H)	Single nucleotide variant (missense variant)	not specified +4 more	GLikely benign
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 387602	NM_002230.4(JUP):c.1908C>T (p.Ser636=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +3 more	GBenign/Likely benign
Select item 1782413	NM_002230.4(JUP):c.1907C>T (p.Ser636Phe)	JUP (S636F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 380690	NM_002230.4(JUP):c.1902G>T (p.Leu634=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +3 more	GConflicting classifications of pathogenicity
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 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 1781902	NM_002230.4(JUP):c.1881G>A (p.Ser627=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 201829	NM_002230.4(JUP):c.1880C>T (p.Ser627Leu)	JUP (S627L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2563208	NM_002230.4(JUP):c.1879T>C (p.Ser627Pro)	JUP (S627P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 201828	NM_002230.4(JUP):c.1876G>A (p.Ala626Thr)	JUP (A626T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1781732	NM_002230.4(JUP):c.1873G>A (p.Gly625Arg)	JUP (G625R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 953356	NM_002230.4(JUP):c.1868C>G (p.Ala623Gly)	JUP (A623G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GUncertain significance
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 1781547	NM_002230.4(JUP):c.1863T>C (p.Ile621=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2448237	NM_002230.4(JUP):c.1858G>A (p.Ala620Thr)	JUP (A620T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 415909	NM_002230.4(JUP):c.1857C>T (p.Asp619=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 323166	NM_002230.4(JUP):c.1854C>T (p.Ala618=)	JUP	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 646605	NM_002230.4(JUP):c.1850C>T (p.Ala617Val)	JUP (A617V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1781031	NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)	JUP (A612G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 264280	NM_002230.4(JUP):c.1824G>A (p.Leu608=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +2 more	GConflicting classifications of pathogenicity
Select item 1780691	NM_002230.4(JUP):c.1817G>A (p.Gly606Glu)	JUP (G606E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1780676	NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)	JUP (G606R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1466705	NM_002230.4(JUP):c.1816G>C (p.Gly606Arg)	JUP (G606R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2167520	NM_002230.4(JUP):c.1815C>G (p.Ala605=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +2 more	GLikely benign
Select item 496451	NM_002230.4(JUP):c.1815C>T (p.Ala605=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +3 more	GConflicting classifications of pathogenicity
Select item 519275	NM_002230.4(JUP):c.1814C>T (p.Ala605Val)	JUP (A605V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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