Full data view for gene ELOVL4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_022726.3 transcript reference sequence.

136 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 1_1i c.(?_-274)_(100+1_101-1)del r.0? p.0? Parent #1 ACMG likely pathogenic g.(?_80657270)_(80656896_80636099)del - c.-274_(100+1_101-1)del - ELOVL4_000048 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072164 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 1 c.-236C>T r.(=) p.(=) Maternal (confirmed) - pathogenic (!) g.80657232G>A - c.-236C>T (rs240307) - ELOVL4_000047 - PubMed: Donato 2018 - rs240307 Germline - - - - - DNA SEQ, PCR - Also expression examined by Dual-Luciferase Reporter assay retinal disease - PubMed: Donato 2018 - M - - Caucasian - - - - 1 LOVD
-?/. - c.-236C>T r.(?) p.(=) Unknown - likely benign g.80657232G>A - - - ELOVL4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-90G>C r.(=) p.(=) Paternal (confirmed) - pathogenic (!) g.80657086C>G - c.-90 G>C (rs62407622) - ELOVL4_000046 - PubMed: Donato 2018 - rs62407622 Germline - - - - - DNA SEQ, PCR - Also expression examined by Dual-Luciferase Reporter assay retinal disease - PubMed: Donato 2018 - M - - Caucasian - - - - 1 LOVD
-?/. - c.-90G>C r.(?) p.(=) Unknown - likely benign g.80657086C>G - - - ELOVL4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.? r.? p.? Unknown - benign g.? - Ile267Thr - LAMA2_000000 0/102 LCA patients; 13/584 normal controls PubMed: Rivolta 2003 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Rivolta 2003 - - - - - - - - - 1 LOVD
+?/. - c.1A>G r.(?) p.(Met1?) Unknown ACMG likely pathogenic g.80656996T>C g.79947279T>C PRPF31 c.961A>T, p.(Lys321*), ELOVL4 c.1A>G, p.(Met1?) - ELOVL4_000027 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 180 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-?/. - c.6G>T r.(?) p.(Gly2=) Unknown - likely benign g.80656991C>A - ELOVL4(NM_022726.4):c.6G>T (p.G2=) - ELOVL4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.35_48dup r.(?) p.(Thr17Ter) Unknown - likely pathogenic g.80656958_80656971dup g.79947241_79947254dup 35_48dup14 - ELOVL4_000023 - PubMed: Srivastava 2014 - - De novo - - - - - DNA SEQ-NG - WES ? Pat60 PubMed: Srivastava 2014 - - - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.59A>G r(?) p.(Asn20Ser) Unknown - likely pathogenic (dominant) g.80656938T>C g.79947221T>C ELOVL4 c.59A > G, p.(Asn20Ser) - ELOVL4_000031 - PubMed: Hu 2020 - - Germline ? - - - - DNA SEQ-NG blood panel-based next-generation sequencing STGD Sporadic case 2 PubMed: Hu 2020 - M ? China - - - - - 1 Anna Tracewska
+/. 1 c.78C>G r.(?) p.(Tyr26*) Both (homozygous) - pathogenic (recessive) g.80656919G>C - c.78C > G (p.Tyr26*) - ELOVL4_000045 0/100 normal Pakistani individuals PubMed: Mir 2014 - - Germline yes - - - - DNA SEQ, PCR, microsat - - retinal disease IV-1 PubMed: Mir 2014 - - - Pakistan Pakistani - - - - 1 LOVD
+/. 1 c.78C>G r.(?) p.(Tyr26*) Both (homozygous) - pathogenic (recessive) g.80656919G>C - c.78C > G (p.Tyr26*) - ELOVL4_000045 0/100 normal Pakistani individuals PubMed: Mir 2014 - - Germline yes - - - - DNA SEQ, PCR, microsat - - retinal disease IV-2 PubMed: Mir 2014 - - - Pakistan Pakistani - - - - 1 LOVD
+/. 1 c.78C>G r.(?) p.(Tyr26*) Both (homozygous) - pathogenic (recessive) g.80656919G>C - c.78C > G (p.Tyr26*) - ELOVL4_000045 0/100 normal Pakistani individuals PubMed: Mir 2014 - - Germline yes - - - - DNA SEQ, PCR, microsat - - retinal disease IV-5 PubMed: Mir 2014 - - - Pakistan Pakistani - - - - 1 LOVD
-/. - c.101-4A>G r.spl? p.? Unknown - benign g.80636102T>C g.79926385T>C ELOVL4(NM_022726.3):c.101-4A>G, ELOVL4(NM_022726.4):c.101-4A>G - ELOVL4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.101-4A>G r.spl? p.? Unknown - benign g.80636102T>C g.79926385T>C ELOVL4(NM_022726.3):c.101-4A>G, ELOVL4(NM_022726.4):c.101-4A>G - ELOVL4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.145A>G r.(?) p.(Thr49Ala) Unknown - likely pathogenic g.80636054T>C g.79926337T>C c.145A>G; p.T49A - ELOVL4_000026 - PubMed: Kersten 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Whole-exome sequencing retinal disease ? PubMed: Kersten 2018 - F - - - - - - - 1 LOVD
-?/. - c.231A>G r.(?) p.(Leu77=) Unknown - likely benign g.80635968T>C - ELOVL4(NM_022726.4):c.231A>G (p.L77=) - ELOVL4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241A>G r.(?) p.(Ile81Val) Unknown - likely benign g.80635958T>C g.79926241T>C ELOVL4(NM_022726.3):c.241A>G (p.I81V) - ELOVL4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.269_270del r.(?) p.(Asn90Thrfs*13) Unknown ACMG likely pathogenic g.80635929_80635930del g.79926212_79926213del - - ELOVL4_000017 ACMG grading: PVS1,PM2 Maculardystrophy at age 9y - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - Germany - - - - - 1 Andreas Laner
-?/. - c.271C>T r.(?) p.(Leu91Phe) Unknown - likely benign g.80635928G>A - ELOVL4(NM_022726.3):c.271C>T (p.(Leu91Phe)) - ELOVL4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.307A>T r.(?) p.(Asn103Tyr) Unknown - VUS g.80634731T>A g.79925014T>A ELOVL4(NM_022726.3):c.307A>T (p.N103Y) - ELOVL4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.311C>T r.(?) p.(Ala104Val) Unknown - VUS g.80634727G>A g.79925010G>A ELOVL4(NM_022726.3):c.311C>T (p.A104V) - ELOVL4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312G>A r.(?) p.(Ala104=) Unknown - likely benign g.80634726C>T g.79925009C>T ELOVL4(NM_022726.3):c.312G>A (p.A104=) - ELOVL4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.314G>C r.(?) p.(Gly105Ala) Unknown - VUS g.80634724C>G g.79925007C>G 314C>G - ELOVL4_000022 - PubMed: Duvvari 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat3AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
-?/. - c.351T>A r.(?) p.(Asn117Lys) Unknown - likely benign g.80634687A>T g.79924970A>T ELOVL4(NM_022726.3):c.351T>A (p.N117K) - ELOVL4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.351T>A r.(?) p.(Asn117Lys) Unknown - benign g.80634687A>T - c.351T>A - ELOVL4_000012 1/250 healthy controls PubMed: Bardak 2016 - rs148018494 Unknown - - - - - DNA SEQ - - Healthy/Control - PubMed: Bardak 2016 - - - - - - - - - 1 LOVD
-/. 3i c.370-26T>A r.spl? p.? Both (homozygous) - benign g.80631539A>T - c.370-26T>A - ELOVL4_000044 133/250 healthy controls PubMed: Bardak 2016 - - Unknown - - - - - DNA SEQ - - Healthy/Control - PubMed: Bardak 2016 - - - - - - - - - 1 LOVD
-/. - c.370-18C>T r.(=) p.(=) Unknown - benign g.80631531G>A g.79921814G>A ELOVL4(NM_022726.4):c.370-18C>T - ELOVL4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.370-18C>T r.(=) p.(=) Unknown - benign g.80631531G>A - IVS3-18C>T - ELOVL4_000005 0/168 arRP patients; 1/584 normal controls PubMed: Rivolta 2003 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Rivolta 2003 - - - - - - - - - 1 LOVD
-/. - c.426A>G r.(?) p.(Thr142=) Unknown - benign g.80631457T>C g.79921740T>C ELOVL4(NM_022726.4):c.426A>G (p.T142=) - ELOVL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.504G>C r.(?) p.(Leu168Phe) Unknown - likely pathogenic g.80631379C>G - ELOVL4(NM_022726.4):c.504G>C (p.L168F) - ELOVL4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.512T>C r.(?) p.(Ile171Thr) Unknown - likely pathogenic g.80631371A>G g.79921654A>G - - ELOVL4_000020 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 639 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
?/. - c.617C>A r.(?) p.(Pro206Gln) Unknown ACMG VUS g.80629189G>T g.79919472G>T ELOVL4 c.[617C>A];[617=], V1: c.617C>A, (p.Pro206Gln) - ELOVL4_000032 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F088 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.617C>A r.(?) p.(Pro206Gln) Parent #1 - VUS g.80629189G>T g.79919472G>T ELOVL4 c.[617C>A];[617=]; p.(Pro206Gln) - ELOVL4_000032 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.000381; GnomAD_All: 0.0000279 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F088 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
?/. - c.624T>G r.(?) p.(Ile208Met) Unknown - VUS g.80629182A>C - ELOVL4(NM_022726.3):c.624T>G (p.I208M) - ELOVL4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667C>A r.(?) p.(Leu223Met) Unknown - likely benign g.80629139G>T - ELOVL4(NM_022726.3):c.667C>A (p.(Leu223Met)) - ELOVL4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.670-2533T>A r.spl? p.? Unknown - benign g.80629133A>T - IVS5-2533T>A - ELOVL4_000043 - PubMed: Lai 2005 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease III-12 PubMed: Lai 2005 - M - China Chinese - - - - 1 LOVD
-?/. - c.670-3C>G r.spl? p.? Unknown - likely benign g.80626603G>C g.79916886G>C ELOVL4(NM_022726.4):c.670-3C>G - ELOVL4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.698C>T r.(?) p.(Thr233Met) Unknown - likely pathogenic g.80626572G>A g.79916855G>A ELOVL4(NM_022726.3):c.698C>T (p.T233M) - ELOVL4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.698C>T r.(?) p.(Thr233Met) Unknown - likely pathogenic g.80626572G>A g.79916855G>A ELOVL4(NM_022726.3):c.698C>T (p.T233M) - ELOVL4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.699G>A r.(?) p.(Thr233=) Unknown - likely benign g.80626571C>T g.79916854C>T ELOVL4(NM_022726.4):c.699G>A (p.T233=) - ELOVL4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6 c.699G>A r.(=) p.(=) Unknown - benign g.80626571C>T - c.699G>A - ELOVL4_000010 - PubMed: Yi-2012 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Yi-2012 - - - China - - - - - 1 LOVD
?/. - c.761A>G r.(?) p.(Tyr254Cys) Unknown - VUS g.80626509T>C g.79916792T>C ELOVL4(NM_022726.4):c.761A>G (p.Y254C) - ELOVL4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.789_793delinsAAC r.(?) p.(Asn264Thrfs*10) Unknown - likely pathogenic g.80626477_80626481delinsGTT g.79916760_79916764delinsGTT ELOVL4 c.789delTAACTTinsAACT, .Phe265fs_Asn264fs - ELOVL4_000033 error in annotation, this variant should be annotated as c.789_793delinsAAC and not c.789delTAACTTinsAACT; only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, PubMed: Dockery 2017 - - Germline yes - - - - DNA SEQ-NG-I blood panel of 254 genes implicated in retinopathies retinal disease 14 PubMed: Dockery 2017 no patient numbers in the paper, consecutive numbers given ? - Ireland - - - - - 1 LOVD
+?/. 6 c.789_793delinsAAC r.(?) p.(Asn264ThrfsTer10) Parent #1 ACMG likely pathogenic g.80626477_80626481delinsGTT g.79916760_79916764delinsGTT - - ELOVL4_000033 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072296 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 5i c.790-794delAACTT r.spl? p.? Unknown - pathogenic g.80627274delAAGTT - c.790-794delAACTT - ELOVL4_000030 - PubMed: Palejwala 2016 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Palejwala 2016 - F - - - - - - - 2 LOVD
+/. 5i c.790-794delAACTT r.spl? p.? Unknown - pathogenic g.80627274delAAGTT - c.790-794delAACTT - ELOVL4_000030 - PubMed: Palejwala 2016 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Palejwala 2016 the first cousin of V1D and V1C, F - - - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease II-8 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease III-1 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic (!) g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - Healthy/Control III-3 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease III-5 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease III-7 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic (!) g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - Healthy/Control III-8 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease III-11 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-3 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-4 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-5 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-6 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-7 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-9 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-10 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.790del r.? p.? Unknown - pathogenic (!) g.80626480del - 790DT+794DT - ELOVL4_000042 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - Healthy/Control IV-12 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+?/. - c.790_794del r.(?) p.(Asn264Leufs*9) Unknown - likely pathogenic g.80626479_80626483del g.79916762_79916766del 787_791delCTTAA - ELOVL4_000019 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 910 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.790_794del r.(?) p.(Asn264Leufs*9) Unknown - likely pathogenic g.80626479_80626483del g.79916762_79916766del 787_791delCTTAA - ELOVL4_000019 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 911 PubMed: Stone 2017 family, 69 affected F - (United States) - - - - - 69 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease II-8 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease III-1 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic (!) g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - Healthy/Control III-3 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease III-5 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease III-7 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic (!) g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - Healthy/Control III-8 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease III-11 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-3 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-4 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-5 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-6 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-7 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-9 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - retinal disease IV-10 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+/. 6 c.794del r.(?) p.(Phe265Serfs*19) Unknown - pathogenic (!) g.80626476del - 790DT+794DT - ELOVL4_000041 0/292 general-population controls and 0/513 patients with AMD PubMed: Bernstein 2001 - - Germline yes - - - - DNA SEQ, DHPLC - - Healthy/Control IV-12 PubMed: Bernstein 2001 - - - United States - - - - - 1 LOVD
+?/. 6 c.797_801del r.? p.? Unknown - likely pathogenic g.80626469_80626473del - 797–801delAACTT - ELOVL4_000040 - PubMed: Zhang 2001 - - Germline yes - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Zhang 2001 - - - - European - - - - 1 LOVD
+?/. 6 c.797_801del r.? p.? Unknown - likely pathogenic g.80626469_80626473del - 797–801delAACTT - ELOVL4_000040 - PubMed: Zhang 2001 - - Germline yes - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Zhang 2001 - - - - European - - - - 1 LOVD
+?/. 6 c.797_801del r.? p.? Unknown - likely pathogenic g.80626469_80626473del - 797–801delAACTT - ELOVL4_000040 - PubMed: Zhang 2001 - - Germline yes - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Zhang 2001 - - - - European - - - - 1 LOVD
+?/. 6 c.797_801del r.? p.? Unknown - likely pathogenic g.80626469_80626473del - 797–801delAACTT - ELOVL4_000040 - PubMed: Zhang 2001 - - Germline yes - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Zhang 2001 - - - - Canadian - - - - 1 LOVD
+?/. 6 c.797_801del r.? p.? Unknown - likely pathogenic g.80626469_80626473del - 797–801delAACTT - ELOVL4_000040 - PubMed: Zhang 2001 - - Germline yes - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Zhang 2001 - - - - European - - - - 1 LOVD
+/. 6 c.797_801del r.? p.? Unknown - pathogenic (dominant) g.80626469_80626473delAAGTT - 797 to 801delAACTT - ELOVL4_000040 - PubMed: Vrabec 2003 - - Germline yes - - - - DNA SEQ - - retinal disease XI:1 PubMed: Vrabec 2003 proband - - - - - - - - 1 LOVD
+/. 6 c.797_801del r.? p.? Unknown - pathogenic (dominant) g.80626469_80626473delAAGTT - 797 to 801delAACTT - ELOVL4_000040 - PubMed: Vrabec 2003 - - Germline yes - - - - DNA SEQ - - retinal disease X:1 PubMed: Vrabec 2003 mother of XI:1 - - - - - - - - 1 LOVD
+/. 6 c.797_801del r.? p.? Unknown - pathogenic (dominant) g.80626469_80626473delAAGTT - 797 to 801delAACTT - ELOVL4_000040 - PubMed: Vrabec 2003 - - Germline yes - - - - DNA SEQ - - retinal disease XII:1 PubMed: Vrabec 2003 daughter of XI:1 - - - - - - - - 1 LOVD
?/. 6 c.800T>C r.(?) p.(Ile267Thr) Parent #1 - VUS g.80626470A>G g.79916753A>G - - ELOVL4_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-S - - retinal disease FamG PubMed: Van Huet 2014, PubMed: Neveling 2012 2-generation family, 2 affected (F, M) F;M yes - - - - - - 2 Kornelia Neveling
?/. 6 c.800T>C r.(?) p.(Ile267Thr) Parent #1 - VUS g.80626470A>G g.79916753A>G - - ELOVL4_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-S - - retinal disease FamG PubMed: Van Huet 2014, PubMed: Neveling 2012 2-generation family, 2 affected (F, M) F;M yes - - - - - - 2 Kornelia Neveling
?/. 6 c.800T>C r.(?) p.(Ile267Thr) Parent #1 - VUS g.80626470A>G g.79916753A>G - - ELOVL4_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
?/. 6 c.800T>C r.(?) p.(Ile267Thr) Parent #1 - VUS g.80626470A>G g.79916753A>G - - ELOVL4_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
?/. 6 c.800T>C r.(?) p.(Ile267Thr) Parent #1 - VUS g.80626470A>G g.79916753A>G - - ELOVL4_000001 not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
?/. 6 c.800T>C r.(?) p.(Ile267Thr) Parent #1 - VUS g.80626470A>G g.79916753A>G - - ELOVL4_000001 not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
+?/. 6 c.800T>C r.(?) p.(Ile267Thr) Unknown - likely pathogenic g.80626470A>G - c.800T>C - ELOVL4_000001 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
-/. 6 c.800T>C r.(?) p.(Ile267Thr) Unknown - benign g.80626470A>G - c.800T>C - ELOVL4_000001 4/250 healthy controls PubMed: Bardak 2016 - rs148594713 Unknown - - - - - DNA SEQ - - Healthy/Control - PubMed: Bardak 2016 - - - - - - - - - 1 LOVD
?/. - c.802C>T r.(?) p.(Arg268Trp) Unknown - VUS g.80626468G>A g.79916751G>A ELOVL4(NM_022726.3):c.802C>T (p.R268W) - ELOVL4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.810C>G r.(?) p.(Tyr270*) Parent #1 - pathogenic g.80626460G>C g.79916743G>C - - ELOVL4_000021 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71718 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. 6 c.810C>G r.(?) p.(Tyr270*) Unknown - likely pathogenic g.80626460G>C - c.810C>G - ELOVL4_000021 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 6 c.810C>G r.(?) p.(Tyr270*) Unknown - likely pathogenic g.80626460G>C - c.810C>G - ELOVL4_000021 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 6 c.810C>G r.(?) p.(Tyr270*) Unknown - likely pathogenic g.80626460G>C - c.810C>G - ELOVL4_000021 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
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