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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290242	NM_000229.2(LCAT):c.1311G>A (p.Pro437=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1769652	NM_000229.2(LCAT):c.1310C>T (p.Pro437Leu)	LCAT (P437L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1769101	NM_000229.2(LCAT):c.1291A>G (p.Thr431Ala)	LCAT (T431A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1769097	NM_000229.2(LCAT):c.1290G>A (p.Pro430=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3230698	NM_000229.2(LCAT):c.1284A>T (p.Ala428=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1764448	NM_000229.2(LCAT):c.1267C>T (p.Arg423Cys)	LCAT (R423C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3230697	NM_000229.2(LCAT):c.1223A>G (p.Asn408Ser)	LCAT (N408S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290243	NM_000229.2(LCAT):c.1193G>A (p.Gly398Glu)	LCAT (G398E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1447512	NM_000229.2(LCAT):c.1192G>A (p.Gly398Arg)	LCAT (G398R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1745003	NM_000229.2(LCAT):c.1191C>T (p.His397=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3290235	NM_000229.2(LCAT):c.1190A>G (p.His397Arg)	LCAT (H397R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3230696	NM_000229.2(LCAT):c.1188G>A (p.Leu396=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1743229	NM_000229.2(LCAT):c.1185C>T (p.Pro395=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1742622	NM_000229.2(LCAT):c.1182G>T (p.Leu394=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 320196	NM_000229.2(LCAT):c.1177C>T (p.Leu393=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 887804	NM_000229.2(LCAT):c.1173G>A (p.Val391=)	LCAT	Single nucleotide variant (synonymous variant)	LCAT deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2562383	NM_000229.2(LCAT):c.1163C>T (p.Pro388Leu)	LCAT (P388L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290245	NM_000229.2(LCAT):c.1145T>G (p.Leu382Arg)	LCAT (L382R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2452823	NM_000229.2(LCAT):c.1137C>T (p.Leu379=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1601778	NM_000229.2(LCAT):c.1132G>A (p.Glu378Lys)	LCAT (E378K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1798950	NM_000229.2(LCAT):c.1125C>T (p.Arg375=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230695	NM_000229.2(LCAT):c.1119G>A (p.Ala373=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 887806	NM_000229.2(LCAT):c.1113G>A (p.Thr371=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 3230694	NM_000229.2(LCAT):c.1098G>A (p.Glu366=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2452824	NM_000229.2(LCAT):c.1088T>A (p.Val363Glu)	LCAT (V363E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1787495	NM_000229.2(LCAT):c.1085G>A (p.Gly362Asp)	LCAT (G362D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3230693	NM_000229.2(LCAT):c.1084G>A (p.Gly362Ser)	LCAT (G362S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1426099	NM_000229.2(LCAT):c.1078C>A (p.Pro360Thr)	LCAT (P360T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1785212	NM_000229.2(LCAT):c.1077C>T (p.Asp359=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2452827	NM_000229.2(LCAT):c.1074G>A (p.Thr358=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1784152	NM_000229.2(LCAT):c.1073C>T (p.Thr358Met)	LCAT (T358M)	Single nucleotide variant (missense variant)	Norum disease +2 more	GUncertain significance
Select item 1782499	NM_000229.2(LCAT):c.1068C>T (p.Pro356=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1780700	NM_000229.2(LCAT):c.1062C>T (p.Gly354=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1778177	NM_000229.2(LCAT):c.1054G>A (p.Asp352Asn)	LCAT (D352N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1777854	NM_000229.2(LCAT):c.1053C>T (p.Tyr351=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1774920	NM_000229.2(LCAT):c.1044C>A (p.Thr348=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1774013	NM_000229.2(LCAT):c.1040G>A (p.Arg347His)	LCAT (R347H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1772473	NM_000229.2(LCAT):c.1035G>C (p.Thr345=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1772425	NM_000229.2(LCAT):c.1035G>A (p.Thr345=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2562382	NM_000229.2(LCAT):c.1020C>T (p.Gly340=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1747648	NM_000229.2(LCAT):c.1017C>T (p.Tyr339=)	LCAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2452826	NM_000229.2(LCAT):c.990A>G (p.Ala330=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 320198	NM_000229.2(LCAT):c.981A>C (p.Gly327=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1768284	NM_000229.2(LCAT):c.980G>T (p.Gly327Val)	LCAT (G327V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3230709	NM_000229.2(LCAT):c.972C>T (p.Leu324=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1767696	NM_000229.2(LCAT):c.965G>A (p.Arg322His)	LCAT (R322H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766361	NM_000229.2(LCAT):c.925C>G (p.Leu309Val)	LCAT (L309V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567127	NM_000229.2(LCAT):c.918T>C (p.Phe306=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1765562	NM_000229.2(LCAT):c.903C>T (p.Asp301=)	LCAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1765383	NM_000229.2(LCAT):c.899G>A (p.Arg300His)	LCAT (R300H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1765346	NM_000229.2(LCAT):c.898C>T (p.Arg300Cys)	LCAT (R300C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1764260	NM_000229.2(LCAT):c.867C>A (p.Phe289Leu)	LCAT (F289L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567126	NM_000229.2(LCAT):c.863T>C (p.Val288Ala)	LCAT (V288A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1764100	NM_000229.2(LCAT):c.862G>A (p.Val288Met)	LCAT (V288M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 884652	NM_000229.2(LCAT):c.861C>T (p.His287=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1763282	NM_000229.2(LCAT):c.840C>T (p.Arg280=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1763224	NM_000229.2(LCAT):c.839G>A (p.Arg280His)	LCAT (R280H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452825	NM_000229.2(LCAT):c.838C>T (p.Arg280Cys)	LCAT (R280C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2587100	NM_000229.2(LCAT):c.819C>T (p.Ser273=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1760962	NM_000229.2(LCAT):c.786G>A (p.Lys262=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1760758	NM_000229.2(LCAT):c.781A>T (p.Ile261Phe)	LCAT (I261F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290239	NM_000229.2(LCAT):c.778A>G (p.Ser260Gly)	LCAT (S260G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290241	NM_000229.2(LCAT):c.767C>T (p.Pro256Leu)	LCAT (P256L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567125	NM_000229.2(LCAT):c.734T>G (p.Leu245Arg)	LCAT (L245R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290236	NM_000229.2(LCAT):c.729C>T (p.Pro243=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230707	NM_000229.2(LCAT):c.717C>T (p.Gly239=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3290238	NM_000229.2(LCAT):c.705T>G (p.Ala235=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1756789	NM_000229.2(LCAT):c.702G>T (p.Gly234=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 884653	NM_000229.2(LCAT):c.694T>A (p.Ser232Thr)	LCAT (S232T)	Single nucleotide variant (missense variant)	Fish-eye disease +4 more	GBenign/Likely benign
Select item 1756247	NM_000229.2(LCAT):c.693C>T (p.Ile231=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3230706	NM_000229.2(LCAT):c.673C>T (p.Arg225Cys)	LCAT (R225C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2587102	NM_000229.2(LCAT):c.661G>A (p.Ala221Thr)	LCAT (A221T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3118025	NM_000229.2(LCAT):c.655C>T (p.Pro219Ser)	LCAT (P219S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2405727	NM_000229.2(LCAT):c.649C>T (p.Arg217Cys)	LCAT (R217C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567123	NM_000229.2(LCAT):c.648G>A (p.Leu216=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1752574	NM_000229.2(LCAT):c.627A>G (p.Leu209=)	LCAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1752379	NM_000229.2(LCAT):c.623G>C (p.Cys208Ser)	LCAT (C208S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1752266	NM_000229.2(LCAT):c.621C>G (p.Gly207=)	LCAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 884654	NM_000229.2(LCAT):c.618C>T (p.Leu206=)	LCAT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3230705	NM_000229.2(LCAT):c.607G>A (p.Gly203Ser)	LCAT (G203S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 884655	NM_000229.2(LCAT):c.597C>T (p.Val199=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1750501	NM_000229.2(LCAT):c.591G>A (p.Lys197=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2602533	NM_000229.2(LCAT):c.586G>A (p.Gly196Arg)	LCAT (G196R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750136	NM_000229.2(LCAT):c.585T>C (p.Tyr195=)	LCAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1750055	NM_000229.2(LCAT):c.584A>G (p.Tyr195Cys)	LCAT (Y195C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447203	NM_000229.2(LCAT):c.580G>A (p.Ala194Thr)	LCAT (A194T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2596706	NM_000229.2(LCAT):c.577G>A (p.Ala193Thr)	LCAT (A193T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748273	NM_000229.2(LCAT):c.555A>G (p.Ala185=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2204135	NM_000229.2(LCAT):c.553G>A (p.Ala185Thr)	LCAT (A185T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 884656	NM_000229.2(LCAT):c.552C>T (p.Leu184=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1747659	NM_000229.2(LCAT):c.545G>A (p.Arg182His)	LCAT (R182H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3230704	NM_000229.2(LCAT):c.522C>T (p.Pro174=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230703	NM_000229.2(LCAT):c.505G>A (p.Asp169Asn)	LCAT (D169N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1744574	NM_000229.2(LCAT):c.498C>T (p.Ala166=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 884657	NM_000229.2(LCAT):c.495C>T (p.Ala165=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1744176	NM_000229.2(LCAT):c.492C>T (p.Arg164=)	LCAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1743257	NM_000229.2(LCAT):c.480C>T (p.Asp160=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1742648	NM_000229.2(LCAT):c.471C>T (p.Tyr157=)	LCAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2567124	NM_000229.2(LCAT):c.447G>A (p.Val149=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1740686	NM_000229.2(LCAT):c.444G>A (p.Leu148=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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