LCAT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 1270439	NC_000016.10:g.67939604A>G	LCAT	Single nucleotide variant	not provided	GBenign
Select item 1338872	NC_000016.10:g.67939666C>T	LCAT	Single nucleotide variant	not provided	GBenign
Select item 320195	NM_000229.2(LCAT):c.*12T>C	LCAT	Single nucleotide variant (3 prime UTR variant)	LCAT deficiency	GUncertain significance
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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2133428	NM_000229.2(LCAT):c.1299C>T (p.Ser433=)	LCAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714636	NM_000229.2(LCAT):c.1294G>A (p.Ala432Thr)	LCAT (A432T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	not provided +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 1525388	NM_000229.2(LCAT):c.1226T>C (p.Leu409Pro)	LCAT (L409P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 626358	NM_000229.2(LCAT):c.1210A>G (p.Met404Val)	LCAT (M404V)	Single nucleotide variant (missense variant)	LCAT deficiency	GPathogenic
Select item 3669	NM_000229.2(LCAT):c.1197dup (p.Gln400fs)	LCAT (Q400fs)	Duplication (frameshift variant)	LCAT deficiency	GPathogenic
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)	LCAT-related disorder +1 more	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)	LCAT deficiency +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)	LCAT-related disorder +2 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 887805	NM_000229.2(LCAT):c.1118C>T (p.Ala373Val)	LCAT (A373V)	Single nucleotide variant (missense variant)	LCAT deficiency	GUncertain significance
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 3664	NM_000229.2(LCAT):c.1112C>T (p.Thr371Met)	LCAT (T371M)	Single nucleotide variant (missense variant)	Fish-eye disease	GPathogenic
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 887807	NM_000229.2(LCAT):c.1083G>A (p.Val361=)	LCAT	Single nucleotide variant (synonymous variant)	LCAT deficiency	GUncertain significance
Select item 1426099	NM_000229.2(LCAT):c.1078C>A (p.Pro360Thr)	LCAT (P360T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 320197	NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys)	LCAT (R347C)	Single nucleotide variant (missense variant)	LCAT deficiency +1 more	GUncertain significance
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)	not provided +1 more	GLikely benign
Select item 3670	NM_000229.2(LCAT):c.1034C>T (p.Thr345Met)	LCAT (T345M)	Single nucleotide variant (missense variant)	LCAT deficiency	GPathogenic
Select item 2021339	NM_000229.2(LCAT):c.1016_1030del (p.Tyr339_Pro344delinsSer)	LCAT	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1314357	NM_000229.2(LCAT):c.1028T>G (p.Leu343Arg)	LCAT (L343R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314355	NM_000229.2(LCAT):c.1027_1028inv (p.Leu343Arg)	LCAT (L343R)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1314356	NM_000229.2(LCAT):c.1027C>A (p.Leu343Met)	LCAT (L343M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390755	NM_000229.2(LCAT):c.1021G>A (p.Val341Met)	LCAT (V341M)	Single nucleotide variant (missense variant)	Fish-eye disease +2 more	GUncertain significance
Select item 2562382	NM_000229.2(LCAT):c.1020C>T (p.Gly340=)	LCAT	Single nucleotide variant (synonymous variant)	not provided +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 626357	NM_000229.2(LCAT):c.997G>A (p.Val333Met)	LCAT (V333M)	Single nucleotide variant (missense variant)	LCAT deficiency	GPathogenic
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)	LCAT deficiency +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)	not provided +1 more	GUncertain significance
Select item 3672	NM_000229.2(LCAT):c.969CCT[1] (p.Leu325del)	LCAT (L325del)	Microsatellite (inframe_deletion)	Fish-eye disease	GPathogenic
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 3657	NM_000229.2(LCAT):c.951G>A (p.Met317Ile)	LCAT (M317I)	Single nucleotide variant (missense variant)	LCAT deficiency	GPathogenic
Select item 3066091	NM_000229.2(LCAT):c.943T>C (p.Trp315Arg)	LCAT (W315R)	Single nucleotide variant (missense variant)	Norum disease	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)	LCAT-related disorder +2 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 3253064	NM_000229.2(LCAT):c.890A>G (p.Tyr297Cys)	LCAT (Y297C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284301	NM_000229.2(LCAT):c.879C>T (p.Pro293=)	LCAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313553	NM_000229.2(LCAT):c.868_870dup (p.Ile290dup)	LCAT	Duplication (inframe_insertion)	not provided	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 2879462	NM_000229.2(LCAT):c.849G>A (p.Trp283Ter)	LCAT (W283*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1915706	NM_000229.2(LCAT):c.845C>T (p.Ala282Val)	LCAT (A282V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1454135	NM_000229.2(LCAT):c.837_838del (p.Arg280fs)	LCAT (R280fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1803825	NM_000229.2(LCAT):c.832C>T (p.Pro278Ser)	LCAT (P278S)	Single nucleotide variant (missense variant)	Fish-eye disease +1 more	GUncertain significance
Select item 3665	NM_000229.2(LCAT):c.827T>A (p.Met276Lys)	LCAT (M276K)	Single nucleotide variant (missense variant)	LCAT deficiency	GPathogenic
Select item 2587100	NM_000229.2(LCAT):c.819C>T (p.Ser273=)	LCAT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2736369	NM_000229.2(LCAT):c.803G>A (p.Arg268His)	LCAT (R268H)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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