Full data view for gene LCAT

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

92 entries on 1 page. Showing entries 1 - 92.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-24500A>T likely benign r.(?) p.(=) Unknown g.68002504T>A - SLC12A4(NM_001145962.1):c.54A>T (p.T18=) - LCAT_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-17557G>A VUS r.(?) p.(=) Unknown g.67995561C>T - SLC12A4(NM_001145961.1):c.259G>A (p.(Val87Ile)) - SLC12A4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-6888C>T likely benign r.(?) p.(=) Unknown g.67984892G>A - SLC12A4(NM_005072.4):c.1369C>T (p.L457=) - SLC12A4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-14G>T benign r.(?) p.(=) Unknown g.67978018C>A - SLC12A4(NM_005072.4):c.*725G>T - LCAT_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5C>T likely benign r.(?) p.(=) Unknown 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.18C>T VUS r.(?) p.(=) Unknown 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35C>T likely benign r.(?) p.(Thr12Met) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.80T>C VUS r.(?) p.(Leu27Pro) Unknown g.67977925A>G - LCAT(NM_000229.1):c.80T>C (p.L27P) - LCAT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 1 c.86A>T pathogenic r.(?) p.(Asn29Ile) Unknown g.67977919T>A - - - LCAT_000002 - - - - Unknown - - - 0 - DNA SEQ - - FED - - - - - - - - 0 - - 1 M. Mahdi Motazacker
+/. - c.86A>T pathogenic r.(?) p.(Asn29Ile) Unknown 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.101C>A pathogenic r.(?) p.(Pro34Gln) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.101C>T pathogenic r.(?) p.(Pro34Leu) Unknown g.67977904G>A - LCAT(NM_000229.1):c.101C>T (p.P34L) - LCAT_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.102G>A VUS r.(?) p.(=) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.110C>T pathogenic r.(?) p.(Thr37Met) Unknown 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.119C>T likely benign r.(?) p.(Ala40Val) Unknown g.67977886G>A - LCAT(NM_000229.1):c.119C>T (p.A40V) - LCAT_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.138_139del pathogenic r.(?) p.(Arg47Alafs*55) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.154+15G>C benign r.(=) p.(=) Unknown 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154+155T>G benign r.(=) p.(=) Unknown 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154+310C>G benign r.(=) p.(=) Unknown 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.155-267A>G benign r.(=) p.(=) Unknown 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.167T>C pathogenic r.(?) p.(Leu56Pro) Unknown g.67977103A>G - LCAT(NM_000229.1):c.167T>C (p.L56P) - LCAT_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.185C>A VUS r.(?) p.(Ala62Asp) Unknown g.67977085G>T - LCAT(NM_000229.1):c.185C>A (p.A62D) - LCAT_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209T>C VUS r.(?) p.(Val70Ala) Unknown g.67977061A>G - LCAT(NM_000229.1):c.209T>C (p.V70A) - LCAT_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2 c.296G>C pathogenic r.(?) p.(Trp99Ser) Unknown g.67976974C>G - - - LCAT_000004 - - - - Unknown - - - 0 - DNA SEQ - - FED - - - - - Netherlands - - 0 - - 1 M. Mahdi Motazacker
+?/. - c.297G>C likely pathogenic r.(?) p.(Trp99Cys) Unknown g.67976973C>G - LCAT(NM_000229.1):c.297G>C (p.W99C) - LCAT_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.312-10del benign r.(=) p.(=) Unknown g.67976893del - LCAT(NM_000229.1):c.312-10delC - LCAT_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.312-7C>T benign r.(=) p.(=) Unknown g.67976886G>A - LCAT(NM_000229.1):c.312-7C>T - LCAT_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.312-5C>G benign r.spl? p.? Unknown g.67976884G>C - LCAT(NM_000229.1):c.312-5C>G - LCAT_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.330C>T likely benign r.(?) p.(=) Unknown g.67976861G>A - LCAT(NM_000229.1):c.330C>T (p.S110=) - LCAT_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340G>A benign r.(?) p.(Val114Met) Unknown g.67976851C>T - LCAT(NM_000229.1):c.340G>A (p.V114M) - LCAT_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.368G>A likely pathogenic r.(?) p.(Arg123His) Unknown g.67976823C>T - LCAT(NM_000229.1):c.368G>A (p.R123H) - LCAT_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.369C>T benign r.(?) p.(=) Unknown g.67976822G>A - LCAT(NM_000229.1):c.369C>T (p.R123=) - LCAT_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.382G>A VUS r.(?) p.(Gly128Ser) Unknown g.67976809C>T - LCAT(NM_000229.1):c.382G>A (p.G128S) - LCAT_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.398T>C likely pathogenic r.(?) p.(Val133Ala) Unknown g.67976793A>G - LCAT(NM_000229.1):c.398T>C (p.V133A) - LCAT_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.402_403delinsTA pathogenic r.(?) p.(Glu134_Tyr135delinsAspAsn) Paternal (confirmed) g.67976788_67976789delinsTA - 402G>T;403T>A - LCAT_000001 - - - - Unknown - - - 0 - DNA SEQ - - HDLCD-2 - - - - - - - - 0 - - 1 M. Mahdi Motazacker
-/. - c.427+30C>T benign r.(=) p.(=) Unknown g.67976734G>A - LCAT(NM_000229.1):c.427+30C>T - LCAT_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.428-10C>T likely benign r.(=) p.(=) Unknown g.67976679G>A - LCAT(NM_000229.1):c.428-10C>T - LCAT_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.428-5C>G likely benign r.spl? p.? Unknown g.67976674G>C - LCAT(NM_000229.1):c.428-5C>G - LCAT_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.428-4A>G likely benign r.spl? p.? Unknown g.67976673T>C - LCAT(NM_000229.1):c.428-4A>G - LCAT_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.428-3C>A likely pathogenic r.spl? p.? Unknown g.67976672G>T - LCAT(NM_000229.1):c.428-3C>A - LCAT_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.440C>T - r.440c>u p.Thr147Ile Paternal (inferred) g.67976657G>A g.67942754G>A C2182T (T123I) - LCAT_000010 - PubMed: Kuivenhoven 1996 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - FED 08755645-Fam PubMed: Kuivenhoven 1996 4-generation family, 3 affected sisters, 7 unaffected heterozygous carriers F no Netherlands - - 0 - - 3 Johan den Dunnen
+/. - c.440C>T pathogenic r.(?) p.(Thr147Ile) Unknown g.67976657G>A - LCAT(NM_000229.1):c.440C>T (p.T147I) - LCAT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 4 c.440C>T pathogenic r.(?) p.(Thr147Ile) Unknown g.67976657G>A - - - LCAT_000010 - - - - Unknown - - - 0 - DNA SEQ - - FED - - - - - Netherlands - - 0 - - 1 M. Mahdi Motazacker
+/? 4 c.440C>T pathogenic r.(?) p.(Thr147Ile) Unknown g.67976657G>A - - - LCAT_000010 - - - - Unknown - - - 0 - DNA SEQ - - HDLCD-2 - - - - - - - - 0 - - 1 M. Mahdi Motazacker
+/. - c.445G>A pathogenic r.(?) p.(Val149Met) Unknown g.67976652C>T - LCAT(NM_000229.1):c.445G>A (p.V149M) - LCAT_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472G>A VUS r.(?) p.(Val158Met) Unknown g.67976625C>T - LCAT(NM_000229.1):c.472G>A (p.V158M) - LCAT_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475C>A likely benign r.(?) p.(=) Unknown g.67976622G>T - LCAT(NM_000229.1):c.475C>A (p.R159=) - LCAT_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.476G>A likely pathogenic r.(?) p.(Arg159Gln) Unknown g.67976621C>T - LCAT(NM_000229.1):c.476G>A (p.R159Q) - LCAT_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.485C>T VUS r.(?) p.(Thr162Ile) Unknown g.67976612G>A - LCAT(NM_000229.1):c.485C>T (p.T162I) - LCAT_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.511C>A likely benign r.(?) p.(=) Unknown g.67976586G>T - LCAT(NM_000229.1):c.511C>A (p.R171=) - LCAT_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.523+15G>A benign r.(=) p.(=) Unknown g.67976559C>T - LCAT(NM_000229.1):c.523+15G>A - LCAT_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i c.524-22T>C - r.523_524ins[523+1_524-23;c;524-21_524-1] p.Gln176Glufs*6 Maternal (inferred) 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 - DNA, RNA RT-PCR, SEQ - - FED 08755645-Fam PubMed: Kuivenhoven 1996 4-generation family, 3 affected sisters, 7 unaffected heterozygous carriers F no Netherlands - - 0 - - 3 Johan den Dunnen
-/. - c.576C>T benign r.(?) p.(=) Unknown g.67976438G>A - LCAT(NM_000229.1):c.576C>T (p.H192=) - LCAT_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.586G>A likely benign r.(?) p.(Gly196Arg) Unknown g.67976428C>T - LCAT(NM_000229.1):c.586G>A (p.G196R) - LCAT_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.591G>A benign r.(?) p.(=) Unknown g.67976423C>T - LCAT(NM_000229.1):c.591G>A (p.K197=) - LCAT_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.605T>C pathogenic r.(?) p.(Ile202Thr) Unknown g.67976409A>G - LCAT(NM_000229.1):c.605T>C (p.I202T) - LCAT_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.619G>A pathogenic r.(?) p.(Gly207Ser) Unknown g.67976395C>T - LCAT(NM_000229.1):c.619G>A (p.G207S) - LCAT_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621C>G likely benign r.(?) p.(=) Unknown g.67976393G>C - LCAT(NM_000229.1):c.621C>G (p.G207=) - LCAT_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.623G>C VUS r.(?) p.(Cys208Ser) Unknown g.67976391C>G - LCAT(NM_000229.1):c.623G>C (p.C208S) - LCAT_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.649C>T likely pathogenic r.(?) p.(Arg217Cys) Unknown g.67976365G>A - LCAT(NM_000229.1):c.649C>T (p.R217C) - LCAT_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.694T>A benign r.(?) p.(Ser232Thr) Unknown g.67976320A>T - LCAT(NM_000229.1):c.694T>A (p.S232T) - LCAT_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.694T>A VUS r.(?) p.(Ser232Thr) Paternal (confirmed) g.67976320A>T - - - LCAT_000113 - PubMed: Wong 2019, Journal: Wong 2019 - - Germline - - - 0 - DNA SEQ-NG - - FH Fam1PatI1 PubMed: Wong 2019, Journal: Wong 2019 3-generation family F - United States white - 0 - - 1 Karen HY Wong
+/. - c.698T>C pathogenic r.(?) p.(Leu233Pro) Unknown g.67976316A>G - LCAT(NM_000229.1):c.698T>C (p.L233P) - LCAT_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 5 c.736G>T pathogenic r.(?) p.(Val246Phe) Unknown g.67976278C>A - - - LCAT_000005 - - - - Unknown - - - 0 - DNA SEQ - - HDLCD-2 - - - - - Netherlands - - 0 - - 1 M. Mahdi Motazacker
-/. - c.749-358del benign r.(=) p.(=) Unknown g.67974758del - LCAT(NM_000229.1):c.749-358delT - LCAT_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.786G>A benign r.(?) p.(=) Unknown g.67974344C>T - LCAT(NM_000229.1):c.786G>A (p.K262=) - LCAT_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 6 c.802C>T pathogenic r.(?) p.(Arg268Cys) Unknown g.67974328G>A - - - LCAT_000006 - - - - Unknown - - - 0 - DNA SEQ - - HDLCD-2 - - - - - - - - 0 - - 1 M. Mahdi Motazacker
?/. - c.809C>T VUS r.(?) p.(Thr270Ile) Unknown g.67974321G>A - LCAT(NM_000229.1):c.809C>T (p.T270I) - LCAT_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.821C>T likely pathogenic r.(?) p.(Pro274Leu) Unknown g.67974309G>A - LCAT(NM_000229.1):c.821C>T (p.P274L) - LCAT_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.861C>T likely benign r.(?) p.(=) Unknown g.67974269G>A - LCAT(NM_000229.1):c.861C>T (p.H287=) - LCAT_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.879C>T likely benign r.(?) p.(=) Unknown g.67974251G>A - LCAT(NM_000229.1):c.879C>T (p.P293=) - LCAT_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.894A>G likely benign r.(?) p.(=) Unknown g.67974236T>C - LCAT(NM_000229.1):c.894A>G (p.T298=) - LCAT_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899G>A likely benign r.(?) p.(Arg300His) Unknown g.67974231C>T - LCAT(NM_000229.1):c.899G>A (p.R300H) - LCAT_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.935A>G VUS r.(?) p.(Glu312Gly) Unknown g.67974195T>C - LCAT(NM_000229.1):c.935A>G (p.E312G) - LCAT_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.945G>A pathogenic r.(?) p.(Trp315*) Unknown g.67974185C>T - - - LCAT_000007 - - - - Unknown - - - 0 - DNA SEQ - - HDLCD-2 - - - - - - - - 0 - - 1 M. Mahdi Motazacker
+/. - c.964C>T pathogenic r.(?) p.(Arg322Cys) Unknown g.67974166G>A - LCAT(NM_000229.1):c.964C>T (p.R322C) - LCAT_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 6 c.964C>T pathogenic r.(?) p.(Arg322Cys) Unknown g.67974166G>A - - - LCAT_000003 - - - - Unknown - - - 0 - DNA SEQ - - HDLCD-2 - - - - - Netherlands - - 0 - - 1 M. Mahdi Motazacker
-?/. - c.981A>C likely benign r.(?) p.(=) Unknown g.67974149T>G - LCAT(NM_000229.1):c.981A>C (p.G327=) - LCAT_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 6 c.1012C>T pathogenic r.(?) p.(Leu338Phe) Unknown g.67974118G>A - - - LCAT_000008 - - - - Unknown - - - 0 - DNA SEQ - - FED - - - - - - - - 0 - - 1 M. Mahdi Motazacker
?/. - c.1017C>T VUS r.(?) p.(=) Unknown g.67974113G>A - LCAT(NM_000229.1):c.1017C>T (p.Y339=) - LCAT_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1034C>T pathogenic r.(?) p.(Thr345Met) Unknown g.67974096G>A - LCAT(NM_000229.1):c.1034C>T (p.T345M) - LCAT_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1039C>T pathogenic r.(?) p.(Arg347Cys) Unknown g.67974091G>A - LCAT(NM_000229.1):c.1039C>T (p.R347C) - LCAT_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 6 c.1039C>T pathogenic r.(?) p.(Arg347Cys) Unknown g.67974091G>A - - - LCAT_000009 - - - - Unknown - - - 0 - DNA SEQ - - FED - - - - - - - - 0 - - 1 M. Mahdi Motazacker
+/? 6 c.1039C>T pathogenic r.(?) p.(Arg347Cys) Unknown g.67974091G>A - - - LCAT_000009 - - - - Unknown - - - 0 - DNA SEQ - - FED - - - - - - - - 0 - - 1 M. Mahdi Motazacker
-/. - c.1056C>T benign r.(?) p.(=) Unknown g.67974074G>A - LCAT(NM_000229.1):c.1056C>T (p.D352=) - LCAT_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1078C>A VUS r.(?) p.(Pro360Thr) Unknown g.67974052G>T - LCAT(NM_000229.1):c.1078C>A (p.P360T) - LCAT_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1132G>A likely benign r.(?) p.(Glu378Lys) Unknown g.67973998C>T - LCAT(NM_000229.1):c.1132G>A (p.E378K) - LCAT_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1143C>G likely benign r.(?) p.(=) Unknown g.67973987G>C - LCAT(NM_000229.1):c.1143C>G (p.G381=) - LCAT_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1177C>T benign r.(?) p.(=) Unknown g.67973953G>A - LCAT(NM_000229.1):c.1177C>T (p.L393=) - LCAT_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1186C>G VUS r.(?) p.(Leu396Val) Unknown g.67973944G>C - LCAT(NM_000229.1):c.1186C>G (p.L396V) - LCAT_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1310C>T likely benign r.(?) p.(Pro437Leu) Unknown g.67973820G>A - LCAT(NM_000229.1):c.1310C>T (p.P437L) - LCAT_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18C>T likely benign r.(=) p.(=) Unknown g.67973789G>A - LCAT(NM_000229.1):c.*18C>T - LCAT_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend