All transcript variants in gene LCAT

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

100 entries on 1 page. Showing entries 1 - 100.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
-?/. - c.-24500A>T r.(?) p.(=) - likely benign g.68002504T>A g.67968601T>A SLC12A4(NM_001145962.1):c.54A>T (p.T18=) - LCAT_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-17557G>A r.(?) p.(=) - VUS g.67995561C>T g.67961658C>T SLC12A4(NM_001145961.1):c.259G>A (p.(Val87Ile)) - SLC12A4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-6888C>T r.(?) - - likely benign g.67984892G>A g.67950989G>A SLC12A4(NM_005072.4):c.1369C>T (p.L457=) - SLC12A4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-14G>T r.(?) p.(=) - benign g.67978018C>A g.67944115C>A SLC12A4(NM_005072.4):c.*725G>T - LCAT_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-5C>T r.(?) p.(=) - likely benign g.67978009G>A g.67944106G>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_AMC
?/. - c.18C>T r.(?) p.(Ser6=) - VUS g.67977987G>A g.67944084G>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_AMC
-?/. - c.35C>T r.(?) p.(Thr12Met) - likely benign g.67977970G>A g.67944067G>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 - - - 0 - VKGL-NL_AMC
?/. - c.80T>C r.(?) p.(Leu27Pro) - VUS g.67977925A>G g.67944022A>G LCAT(NM_000229.1):c.80T>C (p.L27P) - LCAT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 1 c.86A>T r.(?) p.(Asn29Ile) - pathogenic g.67977919T>A g.67944016T>A - - LCAT_000002 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/. - c.86A>T r.(?) p.(Asn29Ile) - pathogenic g.67977919T>A g.67944016T>A LCAT(NM_000229.1):c.86A>T (p.N29I), SLC12A4(NM_005072.4):c.*824A>T - LCAT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.101C>A r.(?) p.(Pro34Gln) - pathogenic g.67977904G>T g.67944001G>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 - - - 0 - VKGL-NL_AMC
+/. - c.101C>T r.(?) p.(Pro34Leu) - pathogenic g.67977904G>A g.67944001G>A LCAT(NM_000229.1):c.101C>T (p.P34L) - LCAT_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.102G>A r.(?) p.(Pro34=) - VUS g.67977903C>T g.67944000C>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 - - - 0 - VKGL-NL_AMC
+/. - c.110C>T r.(?) p.(Thr37Met) - pathogenic g.67977895G>A g.67943992G>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_AMC
-?/. - c.119C>T r.(?) p.(Ala40Val) - likely benign g.67977886G>A g.67943983G>A LCAT(NM_000229.1):c.119C>T (p.A40V) - LCAT_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.138_139del r.(?) p.(Arg47AlafsTer55) - pathogenic g.67977871_67977872del g.67943968_67943969del 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 - - - 0 - VKGL-NL_AMC
-/. - c.154+15G>C r.(=) p.(=) - benign g.67977836C>G g.67943933C>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_AMC
-/. - c.154+155T>G r.(=) p.(=) - benign g.67977696A>C g.67943793A>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_AMC
-/. - c.154+310C>G r.(=) p.(=) - benign g.67977541G>C g.67943638G>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_AMC
-/. - c.155-267A>G r.(=) p.(=) - benign g.67977382T>C g.67943479T>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_AMC
+/. - c.167T>C r.(?) p.(Leu56Pro) - pathogenic g.67977103A>G g.67943200A>G LCAT(NM_000229.1):c.167T>C (p.L56P) - LCAT_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.185C>A r.(?) p.(Ala62Asp) - VUS g.67977085G>T g.67943182G>T LCAT(NM_000229.1):c.185C>A (p.A62D) - LCAT_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.209T>C r.(?) p.(Val70Ala) - VUS g.67977061A>G g.67943158A>G LCAT(NM_000229.1):c.209T>C (p.V70A) - LCAT_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 2 c.296G>C r.(?) p.(Trp99Ser) - pathogenic g.67976974C>G g.67943071C>G - - LCAT_000004 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+?/. - c.297G>C r.(?) p.(Trp99Cys) - likely pathogenic g.67976973C>G g.67943070C>G LCAT(NM_000229.1):c.297G>C (p.W99C) - LCAT_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.312-10del r.(=) p.(=) - benign g.67976893del g.67942990del LCAT(NM_000229.1):c.312-10delC - LCAT_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.312-7C>T r.(=) p.(=) - benign g.67976886G>A g.67942983G>A LCAT(NM_000229.1):c.312-7C>T - LCAT_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.312-5C>G r.spl? p.? - benign g.67976884G>C g.67942981G>C LCAT(NM_000229.1):c.312-5C>G - LCAT_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.330C>T r.(?) p.(Ser110=) - likely benign g.67976861G>A g.67942958G>A LCAT(NM_000229.1):c.330C>T (p.S110=) - LCAT_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.340G>A r.(?) p.(Val114Met) - benign g.67976851C>T g.67942948C>T LCAT(NM_000229.1):c.340G>A (p.V114M) - LCAT_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.368G>A r.(?) p.(Arg123His) - likely pathogenic g.67976823C>T g.67942920C>T LCAT(NM_000229.1):c.368G>A (p.R123H) - LCAT_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.369C>T r.(?) p.(Arg123=) - benign g.67976822G>A g.67942919G>A LCAT(NM_000229.1):c.369C>T (p.R123=) - LCAT_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.382G>A r.(?) p.(Gly128Ser) - VUS g.67976809C>T g.67942906C>T LCAT(NM_000229.1):c.382G>A (p.G128S) - LCAT_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.398T>C r.(?) p.(Val133Ala) - likely pathogenic g.67976793A>G g.67942890A>G LCAT(NM_000229.1):c.398T>C (p.V133A) - LCAT_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 3 c.402_403delinsTA r.(?) p.(Glu134_Tyr135delinsAspAsn) - pathogenic g.67976788_67976789delinsTA g.67942885_67942886delinsTA 402G>T;403T>A - LCAT_000001 - - - - Unknown - - - 0 - M. Mahdi Motazacker
-/. - c.427+30C>T r.(=) p.(=) - benign g.67976734G>A g.67942831G>A LCAT(NM_000229.1):c.427+30C>T - LCAT_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.428-10C>T r.(=) p.(=) - likely benign g.67976679G>A g.67942776G>A LCAT(NM_000229.1):c.428-10C>T - LCAT_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.428-5C>G r.spl? p.? - likely benign g.67976674G>C g.67942771G>C LCAT(NM_000229.1):c.428-5C>G - LCAT_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.428-4A>G r.spl? p.? - likely benign g.67976673T>C g.67942770T>C LCAT(NM_000229.1):c.428-4A>G - LCAT_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.428-3C>A r.spl? p.? - likely pathogenic g.67976672G>T g.67942769G>T LCAT(NM_000229.1):c.428-3C>A - LCAT_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 4 c.440C>T r.440c>u p.Thr147Ile - - g.67976657G>A g.67942754G>A C2182T (T123I) - LCAT_000010 - PubMed: Kuivenhoven 1996 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.440C>T r.(?) p.(Thr147Ile) - pathogenic g.67976657G>A g.67942754G>A LCAT(NM_000229.1):c.440C>T (p.T147I) - LCAT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 4 c.440C>T r.(?) p.(Thr147Ile) - pathogenic g.67976657G>A g.67942754G>A - - LCAT_000010 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/? 4 c.440C>T r.(?) p.(Thr147Ile) - pathogenic g.67976657G>A g.67942754G>A - - LCAT_000010 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/. - c.440C>T r.(?) p.(Thr147Ile) - - g.67976657G>A g.67942754G>A - - LCAT_000010 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs121908050 Germline - 2/2795 individuals - 0 - Mohammed Faruq
?/. - c.440C>T r.(?) p.(Thr147Ile) - VUS g.67976657G>A g.67942754G>A LCAT(NM_000229.1):c.440C>T (p.T147I) - LCAT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.445G>A r.(?) p.(Val149Met) - pathogenic g.67976652C>T g.67942749C>T LCAT(NM_000229.1):c.445G>A (p.V149M) - LCAT_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.472G>A r.(?) p.(Val158Met) - VUS g.67976625C>T g.67942722C>T LCAT(NM_000229.1):c.472G>A (p.V158M) - LCAT_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.475C>A r.(?) p.(Arg159=) - likely benign g.67976622G>T g.67942719G>T LCAT(NM_000229.1):c.475C>A (p.R159=) - LCAT_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.476G>A r.(?) p.(Arg159Gln) - likely pathogenic g.67976621C>T g.67942718C>T LCAT(NM_000229.1):c.476G>A (p.R159Q) - LCAT_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.485C>T r.(?) p.(Thr162Ile) - VUS g.67976612G>A g.67942709G>A LCAT(NM_000229.1):c.485C>T (p.T162I) - LCAT_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.511C>A r.(?) p.(Arg171=) - likely benign g.67976586G>T g.67942683G>T LCAT(NM_000229.1):c.511C>A (p.R171=) - LCAT_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.523+15G>A r.(=) p.(=) - benign g.67976559C>T g.67942656C>T LCAT(NM_000229.1):c.523+15G>A - LCAT_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 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 variant not in 336 control chromosomes; branchpoint variant; effect confirmed using mini-gene expression PubMed: Kuivenhoven 1996 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.576C>T r.(?) p.(His192=) - benign g.67976438G>A g.67942535G>A LCAT(NM_000229.1):c.576C>T (p.H192=) - LCAT_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.586G>A r.(?) p.(Gly196Arg) - likely benign g.67976428C>T g.67942525C>T LCAT(NM_000229.1):c.586G>A (p.G196R) - LCAT_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.591G>A r.(?) p.(Lys197=) - benign g.67976423C>T g.67942520C>T LCAT(NM_000229.1):c.591G>A (p.K197=) - LCAT_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.605T>C r.(?) p.(Ile202Thr) - pathogenic g.67976409A>G g.67942506A>G LCAT(NM_000229.1):c.605T>C (p.I202T) - LCAT_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.619G>A r.(?) p.(Gly207Ser) - pathogenic g.67976395C>T g.67942492C>T LCAT(NM_000229.1):c.619G>A (p.G207S) - LCAT_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.621C>G r.(?) p.(Gly207=) - likely benign g.67976393G>C g.67942490G>C LCAT(NM_000229.1):c.621C>G (p.G207=) - LCAT_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.623G>C r.(?) p.(Cys208Ser) - VUS g.67976391C>G g.67942488C>G LCAT(NM_000229.1):c.623G>C (p.C208S) - LCAT_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.649C>T r.(?) p.(Arg217Cys) - likely pathogenic g.67976365G>A g.67942462G>A LCAT(NM_000229.1):c.649C>T (p.R217C) - LCAT_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.694T>A r.(?) p.(Ser232Thr) - benign g.67976320A>T g.67942417A>T LCAT(NM_000229.1):c.694T>A (p.S232T) - LCAT_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.694T>A r.(?) p.(Ser232Thr) - VUS g.67976320A>T g.67942417A>T - - LCAT_000113 - PubMed: Wong 2019, Journal: Wong 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.698T>C r.(?) p.(Leu233Pro) - pathogenic g.67976316A>G g.67942413A>G LCAT(NM_000229.1):c.698T>C (p.L233P) - LCAT_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 5 c.736G>T r.(?) p.(Val246Phe) - pathogenic g.67976278C>A g.67942375C>A - - LCAT_000005 - - - - Unknown - - - 0 - M. Mahdi Motazacker
-?/. - c.748+13C>T r.(=) p.(=) - likely benign g.67976253G>A g.67942350G>A LCAT(NM_000229.1):c.748+13C>T - LCAT_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.748+16A>T r.(=) p.(=) - likely benign g.67976250T>A g.67942347T>A LCAT(NM_000229.1):c.748+16A>T - LCAT_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.749-358del r.(=) p.(=) - benign g.67974758del g.67940855del LCAT(NM_000229.1):c.749-358delT - LCAT_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.786G>A r.(?) p.(Lys262=) - benign g.67974344C>T g.67940441C>T LCAT(NM_000229.1):c.786G>A (p.K262=) - LCAT_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 6 c.802C>T r.(?) p.(Arg268Cys) - pathogenic g.67974328G>A g.67940425G>A - - LCAT_000006 - - - - Unknown - - - 0 - M. Mahdi Motazacker
?/. - c.809C>T r.(?) p.(Thr270Ile) - VUS g.67974321G>A g.67940418G>A LCAT(NM_000229.1):c.809C>T (p.T270I) - LCAT_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.821C>T r.(?) p.(Pro274Leu) - likely pathogenic g.67974309G>A g.67940406G>A LCAT(NM_000229.1):c.821C>T (p.P274L) - LCAT_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.861C>T r.(?) p.(His287=) - likely benign g.67974269G>A g.67940366G>A LCAT(NM_000229.1):c.861C>T (p.H287=) - LCAT_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.879C>T r.(?) p.(Pro293=) - likely benign g.67974251G>A g.67940348G>A LCAT(NM_000229.1):c.879C>T (p.P293=) - LCAT_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.894A>G r.(?) p.(Thr298=) - likely benign g.67974236T>C g.67940333T>C LCAT(NM_000229.1):c.894A>G (p.T298=) - LCAT_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.899G>A r.(?) p.(Arg300His) - likely benign g.67974231C>T g.67940328C>T LCAT(NM_000229.1):c.899G>A (p.R300H) - LCAT_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.911G>A r.(?) p.(Arg304His) - VUS g.67974219C>T g.67940316C>T LCAT(NM_000229.1):c.911G>A (p.R304H) - LCAT_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.935A>G r.(?) p.(Glu312Gly) - VUS g.67974195T>C g.67940292T>C LCAT(NM_000229.1):c.935A>G (p.E312G) - LCAT_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 6 c.945G>A r.(?) p.(Trp315*) - pathogenic g.67974185C>T g.67940282C>T - - LCAT_000007 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/. - c.964C>T r.(?) p.(Arg322Cys) - pathogenic g.67974166G>A g.67940263G>A LCAT(NM_000229.1):c.964C>T (p.R322C) - LCAT_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 6 c.964C>T r.(?) p.(Arg322Cys) - pathogenic g.67974166G>A g.67940263G>A - - LCAT_000003 - - - - Unknown - - - 0 - M. Mahdi Motazacker
-?/. - c.981A>C r.(?) p.(Gly327=) - likely benign g.67974149T>G g.67940246T>G LCAT(NM_000229.1):c.981A>C (p.G327=) - LCAT_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 6 c.1012C>T r.(?) p.(Leu338Phe) - pathogenic g.67974118G>A g.67940215G>A - - LCAT_000008 - - - - Unknown - - - 0 - M. Mahdi Motazacker
?/. - c.1017C>T r.(?) p.(Tyr339=) - VUS g.67974113G>A g.67940210G>A LCAT(NM_000229.1):c.1017C>T (p.Y339=) - LCAT_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1034C>T r.(?) p.(Thr345Met) - pathogenic g.67974096G>A g.67940193G>A LCAT(NM_000229.1):c.1034C>T (p.T345M) - LCAT_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1039C>T r.(?) p.(Arg347Cys) - pathogenic g.67974091G>A g.67940188G>A LCAT(NM_000229.1):c.1039C>T (p.R347C) - LCAT_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 6 c.1039C>T r.(?) p.(Arg347Cys) - pathogenic g.67974091G>A g.67940188G>A - - LCAT_000009 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/? 6 c.1039C>T r.(?) p.(Arg347Cys) - pathogenic g.67974091G>A g.67940188G>A - - LCAT_000009 - - - - Unknown - - - 0 - M. Mahdi Motazacker
-/. - c.1056C>T r.(?) p.(Asp352=) - benign g.67974074G>A g.67940171G>A LCAT(NM_000229.1):c.1056C>T (p.D352=) - LCAT_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1078C>A r.(?) p.(Pro360Thr) - VUS g.67974052G>T g.67940149G>T LCAT(NM_000229.1):c.1078C>A (p.P360T) - LCAT_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1112C>T r.(?) p.(Thr371Met) - - g.67974018G>A g.67940115G>A - - LCAT_000179 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs121908053 Germline - 1/2792 individuals - 0 - Mohammed Faruq
-?/. - c.1132G>A r.(?) p.(Glu378Lys) - likely benign g.67973998C>T g.67940095C>T LCAT(NM_000229.1):c.1132G>A (p.E378K) - LCAT_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1143C>G r.(?) p.(Gly381=) - likely benign g.67973987G>C g.67940084G>C LCAT(NM_000229.1):c.1143C>G (p.G381=) - LCAT_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1177C>T r.(?) p.(Leu393=) - benign g.67973953G>A g.67940050G>A LCAT(NM_000229.1):c.1177C>T (p.L393=) - LCAT_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1177C>T r.(=) p.(=) - - g.67973953G>A g.67940050G>A - - LCAT_000137 140 heterozygous; Clinindb (India) Faruq 2020, submtted - rs5923 Germline - 140/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1177C>T r.(=) p.(=) - likely benign g.67973953G>A g.67940050G>A - - LCAT_000137 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs5923 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.1186C>G r.(?) p.(Leu396Val) - VUS g.67973944G>C g.67940041G>C LCAT(NM_000229.1):c.1186C>G (p.L396V) - LCAT_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1310C>T r.(?) p.(Pro437Leu) - likely benign g.67973820G>A g.67939917G>A LCAT(NM_000229.1):c.1310C>T (p.P437L) - LCAT_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*18C>T r.(=) p.(=) - likely benign g.67973789G>A g.67939886G>A LCAT(NM_000229.1):c.*18C>T - LCAT_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
Legend