ClinVar for Gene (Select 100287896) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3119122	NM_001144869.3(LIPT2):c.83G>A (p.Arg28Gln)	LIPT2, LIPT2-AS1 (R28Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3119120	NM_001144869.3(LIPT2):c.52G>C (p.Glu18Gln)	LIPT2, LIPT2-AS1 (E18Q)	Single nucleotide variant (non-coding transcript variant +1 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 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 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 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 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 2642151	NR_171028.1(LIPT2-AS1):n.555T>C	LIPT2-AS1, LOC130006412	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2642150	NR_171028.1(LIPT2-AS1):n.452G>A	LIPT2-AS1, LOC130006412	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2642149	NR_171028.1(LIPT2-AS1):n.420G>T	LIPT2-AS1, LOC130006412	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2642148	NR_171028.1(LIPT2-AS1):n.349del	LIPT2-AS1, LOC130006412	Deletion (non-coding transcript variant)	not provided	GLikely benign
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 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 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 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 2502311	NM_001144869.3(LIPT2):c.1A>T (p.Met1Leu)	LIPT2, LIPT2-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	GLikely pathogenic
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 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 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 2268695	NM_001144869.3(LIPT2):c.11C>T (p.Pro4Leu)	LIPT2, LIPT2-AS1 (P4L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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 2196657	NM_001144869.3(LIPT2):c.81G>C (p.Leu27=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2190981	NM_001144869.3(LIPT2):c.41T>A (p.Val14Glu)	LIPT2, LIPT2-AS1 (V14E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2176278	NM_001144869.3(LIPT2):c.43C>T (p.Pro15Ser)	LIPT2, LIPT2-AS1 (P15S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2150666	NM_001144869.3(LIPT2):c.5G>A (p.Arg2Gln)	LIPT2, LIPT2-AS1 (R2Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2134808	NM_001144869.3(LIPT2):c.87G>T (p.Arg29=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 2106154	NM_001144869.3(LIPT2):c.52G>A (p.Glu18Lys)	LIPT2, LIPT2-AS1 (E18K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2078819	NM_001144869.3(LIPT2):c.72C>T (p.Asp24=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2050857	NM_001144869.3(LIPT2):c.15C>T (p.Ala5=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2021283	NM_001144869.3(LIPT2):c.64C>T (p.Leu22=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 1953497	NM_001144869.3(LIPT2):c.29G>T (p.Arg10Leu)	LIPT2, LIPT2-AS1 (R10L)	Single nucleotide variant (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 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 1904882	NM_001144869.3(LIPT2):c.44C>T (p.Pro15Leu)	LIPT2, LIPT2-AS1 (P15L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1879211	NM_001144869.3(LIPT2):c.51C>G (p.Ala17=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1669047	NM_001144869.3(LIPT2):c.60G>T (p.Leu20=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 1432530	NM_001144869.3(LIPT2):c.88C>G (p.Leu30Val)	LIPT2, LIPT2-AS1 (L30V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1415701	NM_001144869.3(LIPT2):c.16G>C (p.Val6Leu)	LIPT2, LIPT2-AS1 (V6L)	Single nucleotide variant (non-coding transcript variant +1 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 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 1398730	NM_001144869.3(LIPT2):c.26_27insTCGGCTGGT (p.6VRL[3])	LIPT2, LIPT2-AS1	Insertion (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 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 1165286	NM_001144869.3(LIPT2):c.22T>C (p.Leu8=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +1 more	GBenign
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 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 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 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 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 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 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
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 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 68