37216[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 5541	NM_005472.5(KCNE3):c.248G>A (p.Arg83His)	KCNE3, LIPT2 (R83H)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +8 more	GConflicting classifications of pathogenicity
Select item 126426	NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)	KCNE3, LIPT2 (T4A)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 1277061	NM_001144869.3(LIPT2):c.*176C>T	LIPT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2494451	NM_001144869.3(LIPT2):c.692A>C (p.Asn231Thr)	LIPT2 (N231T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1359215	NM_001144869.3(LIPT2):c.692A>G (p.Asn231Ser)	LIPT2 (N231S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 771448	NM_001144869.3(LIPT2):c.690C>T (p.Pro230=)	LIPT2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2192227	NM_001144869.3(LIPT2):c.686G>A (p.Ser229Asn)	LIPT2 (S229N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2266890	NM_001144869.3(LIPT2):c.668C>T (p.Thr223Ile)	LIPT2 (T223I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1670614	NM_001144869.3(LIPT2):c.620A>T (p.Glu207Val)	LIPT2 (E207V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1503567	NM_001144869.3(LIPT2):c.619G>A (p.Glu207Lys)	LIPT2 (E207K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3119121	NM_001144869.3(LIPT2):c.613G>A (p.Val205Met)	LIPT2 (V205M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1447366	NM_001144869.3(LIPT2):c.607G>A (p.Val203Ile)	LIPT2 (V203I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964015	NM_001144869.3(LIPT2):c.591G>A (p.Lys197=)	LIPT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1466643	NM_001144869.3(LIPT2):c.589A>C (p.Lys197Gln)	LIPT2 (K197Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1441951	NM_001144869.3(LIPT2):c.587G>C (p.Ser196Thr)	LIPT2 (S196T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2725746	NM_001144869.3(LIPT2):c.576C>T (p.Val192=)	LIPT2 (S116L +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2080421	NM_001144869.3(LIPT2):c.570A>G (p.Thr190=)	LIPT2 (Q203R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1169390	NM_001144869.3(LIPT2):c.568A>T (p.Thr190Ser)	LIPT2 (T190S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1464621	NM_001144869.3(LIPT2):c.561G>C (p.Leu187=)	LIPT2 (W200S +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1403856	NM_001144869.3(LIPT2):c.546C>G (p.Ile182Met)	LIPT2 (I182M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937053	NM_001144869.3(LIPT2):c.515G>C (p.Cys172Ser)	LIPT2 (A96P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380289	NM_001144869.3(LIPT2):c.497A>G (p.His166Arg)	LIPT2 (T90A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541091	NM_001144869.3(LIPT2):c.491C>T (p.Thr164Ile)	LIPT2 (H177Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2187954	NM_001144869.3(LIPT2):c.472C>T (p.Arg158Cys)	LIPT2 (R158C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1898655	NC_000011.10:g.74492365del	LIPT2	Deletion	not provided	GUncertain significance
Select item 2979861	NM_001144869.3(LIPT2):c.467-16T>G	LIPT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629283	NM_001144869.3(LIPT2):c.467-16T>C	LIPT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536068	NM_001144869.3(LIPT2):c.467-18C>A	LIPT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245487	NM_001144869.3(LIPT2):c.467-186_467-185insT	LIPT2	Insertion (intron variant)	not provided	GBenign
Select item 1272283	NM_001144869.3(LIPT2):c.466+230T>G	LIPT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294814	NM_001144869.3(LIPT2):c.466+85C>T	LIPT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1634660	NM_001144869.3(LIPT2):c.466+17A>G	LIPT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 378087	NM_001144869.3(LIPT2):c.466+14A>C	LIPT2	Single nucleotide variant (synonymous variant +1 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +1 more	GBenign
Select item 2039801	NM_001144869.3(LIPT2):c.466+9C>A	LIPT2 (R159S)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1965942	NM_001144869.3(LIPT2):c.466G>C (p.Gly156Arg)	LIPT2 (G156R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3119119	NM_001144869.3(LIPT2):c.463A>G (p.Ile155Val)	LIPT2 (I155V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1940508	NM_001144869.3(LIPT2):c.445G>C (p.Asp149His)	LIPT2 (D149H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1954719	NM_001144869.3(LIPT2):c.444C>A (p.Asp148Glu)	LIPT2 (D148E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3290841	NM_001144869.3(LIPT2):c.418C>T (p.Pro140Ser)	LIPT2 (P140S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058112	NM_001144869.3(LIPT2):c.417C>A (p.Pro139=)	LIPT2	Single nucleotide variant (synonymous variant +1 more)	LIPT2-related disorder	GLikely benign
Select item 1644695	NM_001144869.3(LIPT2):c.415C>T (p.Pro139Ser)	LIPT2 (P139S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3290843	NM_001144869.3(LIPT2):c.404C>T (p.Ala135Val)	LIPT2 (A135V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1374550	NM_001144869.3(LIPT2):c.401A>C (p.Asp134Ala)	LIPT2 (D134A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2059642	NM_001144869.3(LIPT2):c.397C>G (p.Gln133Glu)	LIPT2 (Q133E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1517770	NM_001144869.3(LIPT2):c.392G>A (p.Gly131Asp)	LIPT2 (G131D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1399478	NM_001144869.3(LIPT2):c.390G>C (p.Gln130His)	LIPT2 (Q130H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1981179	NM_001144869.3(LIPT2):c.370_376dup (p.Leu126fs)	LIPT2 (L126fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 438639	NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg)	LIPT2 (L126R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2359842	NM_001144869.3(LIPT2):c.374G>T (p.Arg125Leu)	LIPT2 (R125L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1985386	NM_001144869.3(LIPT2):c.373C>T (p.Arg125Cys)	LIPT2 (R125C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1463170	NM_001144869.3(LIPT2):c.362C>T (p.Ala121Val)	LIPT2 (A121V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1942496	NM_001144869.3(LIPT2):c.354G>A (p.Ser118=)	LIPT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2329484	NM_001144869.3(LIPT2):c.346G>T (p.Val116Leu)	LIPT2 (V116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1923368	NM_001144869.3(LIPT2):c.331C>T (p.Arg111Cys)	LIPT2 (R111C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930372	NM_001144869.3(LIPT2):c.328C>T (p.Leu110=)	LIPT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2491049	NM_001144869.3(LIPT2):c.326G>C (p.Gly109Ala)	LIPT2 (G109A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1339189	NM_001144869.3(LIPT2):c.326G>A (p.Gly109Asp)	LIPT2 (G109D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1452425	NM_001144869.3(LIPT2):c.321T>G (p.Arg107=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 438641	NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg)	LIPT2, LIPT2-AS1 (L105R)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 2091541	NM_001144869.3(LIPT2):c.313C>G (p.Leu105Val)	LIPT2, LIPT2-AS1 (L105V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2544827	NM_001144869.3(LIPT2):c.310G>C (p.Asp104His)	LIPT2, LIPT2-AS1 (D104H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3119118	NM_001144869.3(LIPT2):c.308T>G (p.Leu103Arg)	LIPT2, LIPT2-AS1 (L103R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2608346	NM_001144869.3(LIPT2):c.302C>T (p.Pro101Leu)	LIPT2, LIPT2-AS1 (P101L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2314333	NM_001144869.3(LIPT2):c.301C>T (p.Pro101Ser)	LIPT2, LIPT2-AS1 (P101S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2433463	NM_001144869.3(LIPT2):c.288G>C (p.Gln96His)	LIPT2, LIPT2-AS1 (Q96H)	Single nucleotide variant (non-coding transcript variant +2 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	GUncertain significance
Select item 1031160	NM_001144869.3(LIPT2):c.284G>A (p.Gly95Asp)	LIPT2, LIPT2-AS1 (G95D)	Single nucleotide variant (non-coding transcript variant +2 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	GUncertain significance
Select item 2976123	NM_001144869.3(LIPT2):c.282G>C (p.Pro94=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1433262	NM_001144869.3(LIPT2):c.280C>T (p.Pro94Ser)	LIPT2, LIPT2-AS1 (P94S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2236036	NM_001144869.3(LIPT2):c.277G>A (p.Gly93Ser)	LIPT2, LIPT2-AS1 (G93S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1601557	NM_001144869.3(LIPT2):c.273C>T (p.Phe91=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 716319	NM_001144869.3(LIPT2):c.270C>A (p.Thr90=)	LIPT2, LIPT2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2163207	NM_001144869.3(LIPT2):c.263T>G (p.Leu88Arg)	LIPT2, LIPT2-AS1 (L88R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2011276	NM_001144869.3(LIPT2):c.254_262del (p.Arg85_Gly87del)	LIPT2, LIPT2-AS1	Deletion (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1401629	NM_001144869.3(LIPT2):c.253C>T (p.Arg85Cys)	LIPT2, LIPT2-AS1 (R85C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1715038	NM_001144869.3(LIPT2):c.251G>C (p.Gly84Ala)	LIPT2, LIPT2-AS1 (G84A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3119117	NM_001144869.3(LIPT2):c.241C>T (p.Arg81Cys)	LIPT2, LIPT2-AS1 (R81C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2128833	NM_001144869.3(LIPT2):c.223G>A (p.Ala75Thr)	LIPT2, LIPT2-AS1 (A75T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1621716	NM_001144869.3(LIPT2):c.213G>A (p.Ala71=)	LIPT2, LIPT2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1348114	NM_001144869.3(LIPT2):c.206A>C (p.Glu69Ala)	LIPT2, LIPT2-AS1 +1 more (E69A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1477779	NM_001144869.3(LIPT2):c.202G>A (p.Glu68Lys)	LIPT2, LIPT2-AS1 +1 more (E68K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1991031	NM_001144869.3(LIPT2):c.200C>G (p.Pro67Arg)	LIPT2, LIPT2-AS1 +1 more (P67R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1391633	NM_001144869.3(LIPT2):c.172A>G (p.Thr58Ala)	LIPT2, LIPT2-AS1 +1 more (T58A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1031159	NM_001144869.3(LIPT2):c.167T>C (p.Val56Ala)	LIPT2, LIPT2-AS1 +1 more (V56A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance
Select item 1033330	NM_001144869.3(LIPT2):c.162G>A (p.Gly54=)	LIPT2, LIPT2-AS1 +1 more	Single nucleotide variant (synonymous variant +1 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	GUncertain significance
Select item 378086	NM_001144869.3(LIPT2):c.158C>T (p.Ala53Val)	LIPT2, LIPT2-AS1 +1 more (A53V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2592086	NM_001144869.3(LIPT2):c.149G>C (p.Cys50Ser)	LIPT2, LIPT2-AS1 +1 more (C50S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3119116	NM_001144869.3(LIPT2):c.136G>A (p.Ala46Thr)	LIPT2, LIPT2-AS1 +1 more (A46T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1606541	NM_001144869.3(LIPT2):c.120G>A (p.Ser40=)	LIPT2, LIPT2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3058612	NM_001144869.3(LIPT2):c.115C>T (p.Pro39Ser)	LIPT2, LIPT2-AS1 +1 more (P39S)	Single nucleotide variant (non-coding transcript variant +1 more)	LIPT2-related disorder	GLikely benign
Select item 1059955	NM_001144869.3(LIPT2):c.107T>C (p.Ile36Thr)	LIPT2, LIPT2-AS1 +1 more (I36T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3290842	NM_001144869.3(LIPT2):c.104G>A (p.Gly35Asp)	LIPT2, LIPT2-AS1 (G35D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1401172	NM_001144869.3(LIPT2):c.97G>A (p.Glu33Lys)	LIPT2, LIPT2-AS1 (E33K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1910961	NM_001144869.3(LIPT2):c.95C>G (p.Ala32Gly)	LIPT2, LIPT2-AS1 (A32G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2582896	NM_001144869.3(LIPT2):c.71_94del (p.Asp24_Gln31del)	LIPT2, LIPT2-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2118454	NM_001144869.3(LIPT2):c.85_93dup (p.Gln31_Ala32insArgLeuGln)	LIPT2, LIPT2-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1911779	NM_001144869.3(LIPT2):c.93G>T (p.Gln31His)	LIPT2, LIPT2-AS1 (Q31H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2389892	NM_001144869.3(LIPT2):c.92A>G (p.Gln31Arg)	LIPT2, LIPT2-AS1 (Q31R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 438640	NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro)	LIPT2, LIPT2-AS1 (L30P)	Single nucleotide variant (missense variant)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	GLikely pathogenic

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