3728[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1287310	NC_000017.11:g.41754526C>A	JUP	Single nucleotide variant	not provided	GBenign
Select item 323147	NM_002230.3(JUP):c.*1136C>T	JUP	Single nucleotide variant	Naxos disease +1 more	GUncertain significance
Select item 889386	NM_002230.4(JUP):c.*1027G>C	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GConflicting classifications of pathogenicity
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 890076	NM_002230.4(JUP):c.*1014C>T	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 890078	NM_002230.4(JUP):c.*853C>T	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GConflicting classifications of pathogenicity
Select item 890079	NM_002230.4(JUP):c.*787A>G	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 890654	NM_002230.4(JUP):c.*728A>C	JUP	Single nucleotide variant (3 prime UTR variant)	Naxos disease +1 more	GUncertain significance
Select item 323149	NM_002230.4(JUP):c.*709G>C	JUP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 323150	NM_002230.4(JUP):c.*670G>T	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 323151	NM_002230.4(JUP):c.*669C>T	JUP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 323152	NM_002230.4(JUP):c.*623G>A	JUP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 891894	NM_002230.4(JUP):c.*593C>T	JUP	Single nucleotide variant (3 prime UTR variant)	Naxos disease +1 more	GUncertain significance
Select item 323153	NM_002230.4(JUP):c.*573C>T	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 323154	NM_002230.4(JUP):c.*567C>G	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 889439	NM_002230.4(JUP):c.*497A>T	JUP	Single nucleotide variant (3 prime UTR variant)	Naxos disease +1 more	GUncertain significance
Select item 323155	NM_002230.4(JUP):c.*436G>A	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 890124	NM_002230.4(JUP):c.*409C>G	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 890125	NM_002230.4(JUP):c.*351G>A	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 323156	NM_002230.4(JUP):c.*339C>T	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 890126	NM_002230.4(JUP):c.*316G>A	JUP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 384420	NM_002230.4(JUP):c.*312G>A	JUP	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 323157	NM_002230.4(JUP):c.*286C>T	JUP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 323158	NM_002230.4(JUP):c.*239G>A	JUP	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GConflicting classifications of pathogenicity
Select item 323159	NM_002230.4(JUP):c.*225T>C	JUP	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GBenign
Select item 891952	NM_002230.4(JUP):c.*98C>T	JUP	Single nucleotide variant (3 prime UTR variant +1 more)	Naxos disease +1 more	GUncertain significance
Select item 323160	NM_002230.4(JUP):c.*87G>A	JUP	Single nucleotide variant (3 prime UTR variant +1 more)	Naxos disease +1 more	GUncertain significance
Select item 137964	NM_002230.4(JUP):c.*21C>A	JUP	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1693210	NM_002230.4(JUP):c.*19G>A	JUP	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 889513	NM_002230.4(JUP):c.*18C>T	JUP	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 12 +2 more	GConflicting classifications of pathogenicity
Select item 386211	NM_002230.4(JUP):c.*14A>C	JUP	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 192284	NM_002230.4(JUP):c.*3G>A	JUP	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
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 2945479	NM_002230.4(JUP):c.2238G>A (p.Ter746=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 889514	NM_002230.4(JUP):c.2232G>A (p.Leu744=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 743222	NM_002230.4(JUP):c.2230C>T (p.Leu744=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +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 2180470	NM_002230.4(JUP):c.2219C>T (p.Ala740Val)	JUP (A740V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
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 1562764	NM_002230.4(JUP):c.2214C>A (p.Pro738=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	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 1414924	NM_002230.4(JUP):c.2211C>T (p.Tyr737=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
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)	Arrhythmogenic right ventricular dysplasia 12 +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 948169	NM_002230.4(JUP):c.2204C>G (p.Pro735Arg)	JUP (P735R)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 1915991	NM_002230.4(JUP):c.2203C>T (p.Pro735Ser)	JUP (P735S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
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 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 3363362	NM_002230.4(JUP):c.2187C>T (p.Tyr729=)	JUP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1350989	NM_002230.4(JUP):c.2185T>A (p.Tyr729Asn)	JUP (Y729N)	Single nucleotide variant (missense variant)	Naxos disease +1 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 1375170	NM_002230.4(JUP):c.2156A>G (p.Asp719Gly)	JUP (D719G)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 2574017	NM_002230.4(JUP):c.2154G>A (p.Met718Ile)	JUP (M718I)	Single nucleotide variant (missense variant)	Long QT syndrome	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 2414016	NM_002230.4(JUP):c.2152A>G (p.Met718Val)	JUP (M718V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 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 2107561	NM_002230.4(JUP):c.2145G>A (p.Glu715=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GLikely benign
Select item 1354687	NM_002230.4(JUP):c.2141T>C (p.Leu714Pro)	JUP (L714P)	Single nucleotide variant (missense variant)	Naxos disease +1 more	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 2926646	NM_002230.4(JUP):c.2138C>T (p.Pro713Leu)	JUP (P713L)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 1508216	NM_002230.4(JUP):c.2137C>A (p.Pro713Thr)	JUP (P713T)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
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 1127165	NM_002230.4(JUP):c.2130C>A (p.Pro710=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +1 more	GLikely benign
Select item 2165875	NM_002230.4(JUP):c.2129C>A (p.Pro710His)	JUP (P710H)	Single nucleotide variant (missense variant)	Naxos disease +1 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 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 853996	NM_002230.4(JUP):c.2118dup (p.Ser707fs)	JUP (S707fs)	Duplication (frameshift variant)	Naxos disease +1 more	GUncertain significance
Select item 2132265	NM_002230.4(JUP):c.2114A>T (p.Tyr705Phe)	JUP (Y705F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 1490142	NM_002230.4(JUP):c.2112G>A (p.Met704Ile)	JUP (M704I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 1897535	NM_002230.4(JUP):c.2110A>G (p.Met704Val)	JUP (M704V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 1061982	NM_002230.4(JUP):c.2108C>G (p.Pro703Arg)	JUP (P703R)	Single nucleotide variant (missense variant)	Naxos disease +1 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 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 1407490	NM_002230.4(JUP):c.2102A>G (p.Tyr701Cys)	JUP (Y701C)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance

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