Unique variants in gene LCAT

Information The variants shown are described using the NM_000229.1 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-24500A>T likely benign r.(?) p.(=) g.68002504T>A - SLC12A4(NM_001145962.1):c.54A>T (p.T18=) - LCAT_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-17557G>A VUS r.(?) p.(=) g.67995561C>T - SLC12A4(NM_001145961.1):c.259G>A (p.(Val87Ile)) - SLC12A4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-6888C>T likely benign r.(?) p.(=) g.67984892G>A - SLC12A4(NM_005072.4):c.1369C>T (p.L457=) - SLC12A4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-14G>T benign r.(?) p.(=) g.67978018C>A - SLC12A4(NM_005072.4):c.*725G>T - LCAT_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-5C>T likely benign r.(?) p.(=) g.67978009G>A - LCAT(NM_000229.1):c.-5C>T, SLC12A4(NM_005072.4):c.*734C>T - LCAT_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.18C>T VUS r.(?) p.(=) g.67977987G>A - LCAT(NM_000229.1):c.18C>T (p.S6=), SLC12A4(NM_005072.4):c.*756C>T - LCAT_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.35C>T likely benign r.(?) p.(Thr12Met) g.67977970G>A - LCAT(NM_000229.1):c.35C>T (p.T12M), SLC12A4(NM_005072.4):c.*773C>T - LCAT_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.80T>C VUS r.(?) p.(Leu27Pro) g.67977925A>G - LCAT(NM_000229.1):c.80T>C (p.L27P) - LCAT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/?, +/. 2 1 c.86A>T pathogenic r.(?) p.(Asn29Ile) g.67977919T>A - LCAT(NM_000229.1):c.86A>T (p.N29I), SLC12A4(NM_005072.4):c.*824A>T - LCAT_000002 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record - - - - - M. Mahdi Motazacker, VKGL-NL
+/. 1 - c.101C>A pathogenic r.(?) p.(Pro34Gln) g.67977904G>T - LCAT(NM_000229.1):c.101C>A (p.P34Q), SLC12A4(NM_005072.4):c.*839C>A - LCAT_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.101C>T pathogenic r.(?) p.(Pro34Leu) g.67977904G>A - LCAT(NM_000229.1):c.101C>T (p.P34L) - LCAT_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.102G>A VUS r.(?) p.(=) g.67977903C>T - LCAT(NM_000229.1):c.102G>A (p.P34=), SLC12A4(NM_005072.4):c.*840G>A - LCAT_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.110C>T pathogenic r.(?) p.(Thr37Met) g.67977895G>A - LCAT(NM_000229.1):c.110C>T (p.T37M), SLC12A4(NM_005072.4):c.*848C>T - LCAT_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.119C>T likely benign r.(?) p.(Ala40Val) g.67977886G>A - LCAT(NM_000229.1):c.119C>T (p.A40V) - LCAT_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.138_139del pathogenic r.(?) p.(Arg47Alafs*55) g.67977871_67977872del - LCAT(NM_000229.1):c.138_139delAC (p.R47Afs*55), SLC12A4(NM_005072.4):c.*876_*877delAC - LCAT_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.154+15G>C benign r.(=) p.(=) g.67977836C>G - LCAT(NM_000229.1):c.154+15G>C, SLC12A4(NM_005072.4):c.*907G>C - LCAT_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.154+155T>G benign r.(=) p.(=) g.67977696A>C - LCAT(NM_000229.1):c.154+155T>G, SLC12A4(NM_005072.4):c.*1047T>G - LCAT_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.154+310C>G benign r.(=) p.(=) g.67977541G>C - LCAT(NM_000229.1):c.154+310C>G, SLC12A4(NM_005072.4):c.*1202C>G - LCAT_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.155-267A>G benign r.(=) p.(=) g.67977382T>C - LCAT(NM_000229.1):c.155-267A>G, SLC12A4(NM_005072.4):c.*1361A>G - LCAT_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.167T>C pathogenic r.(?) p.(Leu56Pro) g.67977103A>G - LCAT(NM_000229.1):c.167T>C (p.L56P) - LCAT_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.185C>A VUS r.(?) p.(Ala62Asp) g.67977085G>T - LCAT(NM_000229.1):c.185C>A (p.A62D) - LCAT_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.209T>C VUS r.(?) p.(Val70Ala) g.67977061A>G - LCAT(NM_000229.1):c.209T>C (p.V70A) - LCAT_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 2 c.296G>C pathogenic r.(?) p.(Trp99Ser) g.67976974C>G - - - LCAT_000004 - - - - Unknown - - - - - M. Mahdi Motazacker
+?/. 1 - c.297G>C likely pathogenic r.(?) p.(Trp99Cys) g.67976973C>G - LCAT(NM_000229.1):c.297G>C (p.W99C) - LCAT_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.312-10del benign r.(=) p.(=) g.67976893del - LCAT(NM_000229.1):c.312-10delC - LCAT_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.312-7C>T benign r.(=) p.(=) g.67976886G>A - LCAT(NM_000229.1):c.312-7C>T - LCAT_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.312-5C>G benign r.spl? p.? g.67976884G>C - LCAT(NM_000229.1):c.312-5C>G - LCAT_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.330C>T likely benign r.(?) p.(=) g.67976861G>A - LCAT(NM_000229.1):c.330C>T (p.S110=) - LCAT_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.340G>A benign r.(?) p.(Val114Met) g.67976851C>T - LCAT(NM_000229.1):c.340G>A (p.V114M) - LCAT_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.368G>A likely pathogenic r.(?) p.(Arg123His) g.67976823C>T - LCAT(NM_000229.1):c.368G>A (p.R123H) - LCAT_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.369C>T benign r.(?) p.(=) g.67976822G>A - LCAT(NM_000229.1):c.369C>T (p.R123=) - LCAT_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.382G>A VUS r.(?) p.(Gly128Ser) g.67976809C>T - LCAT(NM_000229.1):c.382G>A (p.G128S) - LCAT_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.398T>C likely pathogenic r.(?) p.(Val133Ala) g.67976793A>G - LCAT(NM_000229.1):c.398T>C (p.V133A) - LCAT_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 3 c.402_403delinsTA pathogenic r.(?) p.(Glu134_Tyr135delinsAspAsn) g.67976788_67976789delinsTA - 402G>T;403T>A - LCAT_000001 - - - - Unknown - - - - - M. Mahdi Motazacker
-/. 1 - c.427+30C>T benign r.(=) p.(=) g.67976734G>A - LCAT(NM_000229.1):c.427+30C>T - LCAT_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.428-10C>T likely benign r.(=) p.(=) g.67976679G>A - LCAT(NM_000229.1):c.428-10C>T - LCAT_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.428-5C>G likely benign r.spl? p.? g.67976674G>C - LCAT(NM_000229.1):c.428-5C>G - LCAT_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.428-4A>G likely benign r.spl? p.? g.67976673T>C - LCAT(NM_000229.1):c.428-4A>G - LCAT_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.428-3C>A likely pathogenic r.spl? p.? g.67976672G>T - LCAT(NM_000229.1):c.428-3C>A - LCAT_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/?, +/. 4 4 c.440C>T pathogenic r.(?), r.440c>u p.(Thr147Ile), p.Thr147Ile g.67976657G>A g.67942754G>A C2182T (T123I), LCAT(NM_000229.1):c.440C>T (p.T147I) - LCAT_000010 VKGL data sharing initiative Nederland PubMed: Kuivenhoven 1996 - - Unknown, Germline, CLASSIFICATION record yes - - - - M. Mahdi Motazacker, Johan den Dunnen, VKGL-NL
+/. 1 - c.445G>A pathogenic r.(?) p.(Val149Met) g.67976652C>T - LCAT(NM_000229.1):c.445G>A (p.V149M) - LCAT_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.472G>A VUS r.(?) p.(Val158Met) g.67976625C>T - LCAT(NM_000229.1):c.472G>A (p.V158M) - LCAT_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.475C>A likely benign r.(?) p.(=) g.67976622G>T - LCAT(NM_000229.1):c.475C>A (p.R159=) - LCAT_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.476G>A likely pathogenic r.(?) p.(Arg159Gln) g.67976621C>T - LCAT(NM_000229.1):c.476G>A (p.R159Q) - LCAT_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.485C>T VUS r.(?) p.(Thr162Ile) g.67976612G>A - LCAT(NM_000229.1):c.485C>T (p.T162I) - LCAT_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.511C>A likely benign r.(?) p.(=) g.67976586G>T - LCAT(NM_000229.1):c.511C>A (p.R171=) - LCAT_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.523+15G>A benign r.(=) p.(=) g.67976559C>T - LCAT(NM_000229.1):c.523+15G>A - LCAT_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 4i c.524-22T>C - r.523_524ins[523+1_524-23;c;524-21_524-1] p.Gln176Glufs*6 g.67976512A>G g.67942609A>G T2327C IVS4-22 - LCAT_000101 1 more item PubMed: Kuivenhoven 1996 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.576C>T benign r.(?) p.(=) g.67976438G>A - LCAT(NM_000229.1):c.576C>T (p.H192=) - LCAT_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.586G>A likely benign r.(?) p.(Gly196Arg) g.67976428C>T - LCAT(NM_000229.1):c.586G>A (p.G196R) - LCAT_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.591G>A benign r.(?) p.(=) g.67976423C>T - LCAT(NM_000229.1):c.591G>A (p.K197=) - LCAT_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.605T>C pathogenic r.(?) p.(Ile202Thr) g.67976409A>G - LCAT(NM_000229.1):c.605T>C (p.I202T) - LCAT_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.619G>A pathogenic r.(?) p.(Gly207Ser) g.67976395C>T - LCAT(NM_000229.1):c.619G>A (p.G207S) - LCAT_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.621C>G likely benign r.(?) p.(=) g.67976393G>C - LCAT(NM_000229.1):c.621C>G (p.G207=) - LCAT_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.623G>C VUS r.(?) p.(Cys208Ser) g.67976391C>G - LCAT(NM_000229.1):c.623G>C (p.C208S) - LCAT_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.649C>T likely pathogenic r.(?) p.(Arg217Cys) g.67976365G>A - LCAT(NM_000229.1):c.649C>T (p.R217C) - LCAT_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., +?/. 2 - c.694T>A benign, VUS r.(?) p.(Ser232Thr) g.67976320A>T - LCAT(NM_000229.1):c.694T>A (p.S232T) - LCAT_000113 VKGL data sharing initiative Nederland PubMed: Wong 2019, Journal: Wong 2019 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
+/. 1 - c.698T>C pathogenic r.(?) p.(Leu233Pro) g.67976316A>G - LCAT(NM_000229.1):c.698T>C (p.L233P) - LCAT_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 5 c.736G>T pathogenic r.(?) p.(Val246Phe) g.67976278C>A - - - LCAT_000005 - - - - Unknown - - - - - M. Mahdi Motazacker
-/. 1 - c.749-358del benign r.(=) p.(=) g.67974758del - LCAT(NM_000229.1):c.749-358delT - LCAT_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.786G>A benign r.(?) p.(=) g.67974344C>T - LCAT(NM_000229.1):c.786G>A (p.K262=) - LCAT_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 6 c.802C>T pathogenic r.(?) p.(Arg268Cys) g.67974328G>A - - - LCAT_000006 - - - - Unknown - - - - - M. Mahdi Motazacker
?/. 1 - c.809C>T VUS r.(?) p.(Thr270Ile) g.67974321G>A - LCAT(NM_000229.1):c.809C>T (p.T270I) - LCAT_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.821C>T likely pathogenic r.(?) p.(Pro274Leu) g.67974309G>A - LCAT(NM_000229.1):c.821C>T (p.P274L) - LCAT_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.861C>T likely benign r.(?) p.(=) g.67974269G>A - LCAT(NM_000229.1):c.861C>T (p.H287=) - LCAT_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.879C>T likely benign r.(?) p.(=) g.67974251G>A - LCAT(NM_000229.1):c.879C>T (p.P293=) - LCAT_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.894A>G likely benign r.(?) p.(=) g.67974236T>C - LCAT(NM_000229.1):c.894A>G (p.T298=) - LCAT_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.899G>A likely benign r.(?) p.(Arg300His) g.67974231C>T - LCAT(NM_000229.1):c.899G>A (p.R300H) - LCAT_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.935A>G VUS r.(?) p.(Glu312Gly) g.67974195T>C - LCAT(NM_000229.1):c.935A>G (p.E312G) - LCAT_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 6 c.945G>A pathogenic r.(?) p.(Trp315*) g.67974185C>T - - - LCAT_000007 - - - - Unknown - - - - - M. Mahdi Motazacker
+/?, +/. 2 6 c.964C>T pathogenic r.(?) p.(Arg322Cys) g.67974166G>A - LCAT(NM_000229.1):c.964C>T (p.R322C) - LCAT_000003, LCAT_000106 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record - - - - - M. Mahdi Motazacker, VKGL-NL
-?/. 1 - c.981A>C likely benign r.(?) p.(=) g.67974149T>G - LCAT(NM_000229.1):c.981A>C (p.G327=) - LCAT_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 6 c.1012C>T pathogenic r.(?) p.(Leu338Phe) g.67974118G>A - - - LCAT_000008 - - - - Unknown - - - - - M. Mahdi Motazacker
?/. 1 - c.1017C>T VUS r.(?) p.(=) g.67974113G>A - LCAT(NM_000229.1):c.1017C>T (p.Y339=) - LCAT_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1034C>T pathogenic r.(?) p.(Thr345Met) g.67974096G>A - LCAT(NM_000229.1):c.1034C>T (p.T345M) - LCAT_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/?, +/. 3 6 c.1039C>T pathogenic r.(?) p.(Arg347Cys) g.67974091G>A - LCAT(NM_000229.1):c.1039C>T (p.R347C) - LCAT_000009, LCAT_000104 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record - - - - - M. Mahdi Motazacker, VKGL-NL
-/. 1 - c.1056C>T benign r.(?) p.(=) g.67974074G>A - LCAT(NM_000229.1):c.1056C>T (p.D352=) - LCAT_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1078C>A VUS r.(?) p.(Pro360Thr) g.67974052G>T - LCAT(NM_000229.1):c.1078C>A (p.P360T) - LCAT_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1132G>A likely benign r.(?) p.(Glu378Lys) g.67973998C>T - LCAT(NM_000229.1):c.1132G>A (p.E378K) - LCAT_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1143C>G likely benign r.(?) p.(=) g.67973987G>C - LCAT(NM_000229.1):c.1143C>G (p.G381=) - LCAT_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1177C>T benign r.(?) p.(=) g.67973953G>A - LCAT(NM_000229.1):c.1177C>T (p.L393=) - LCAT_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1186C>G VUS r.(?) p.(Leu396Val) g.67973944G>C - LCAT(NM_000229.1):c.1186C>G (p.L396V) - LCAT_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1310C>T likely benign r.(?) p.(Pro437Leu) g.67973820G>A - LCAT(NM_000229.1):c.1310C>T (p.P437L) - LCAT_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*18C>T likely benign r.(=) p.(=) g.67973789G>A - LCAT(NM_000229.1):c.*18C>T - LCAT_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend