Full data view for gene LRAT

Information The variants shown are described using the NM_004744.3 transcript reference sequence.

103 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_3_ c.-123_*3982{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_155665253)_(155674270_?)del g.(?_154744101)_(154753118_?)del Exon1-3deletion - LRAT_000028 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease JU1039 PubMed: Hosono 2018 proband, family JIKEI-145 F no Japan Asian - - - - 1 LOVD
+/. _1_3_ c.-123_*3982{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_155665253)_(155674270_?)del g.(?_154744101)_(154753118_?)del Exon1-3deletion - LRAT_000028 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease JU1040 PubMed: Hosono 2018 sister of JU1039, family JIKEI-145 F no Japan Asian - - - - 1 LOVD
+/. - c.12del r.(?) p.(Met5CysfsTer54) Unknown - pathogenic g.155665490del g.154744338del LRAT(NM_004744.5):c.12delC (p.M5Cfs*54) - LRAT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del - c.12delC, p.M5CfsX53 - LRAT_000011 - PubMed: Littink-2012 - - Germline yes - - - - DNA PCR blood - retinal disease - PubMed: Littink-2012 - M - Netherlands - - - - - 1 LOVD
+?/. 1 c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del - c.12delC, p.M5CfsX53 - LRAT_000011 - PubMed: Littink-2012 - - Germline yes - - - - DNA PCR blood - retinal disease - PubMed: Littink-2012 - M - Netherlands - - - - - 1 LOVD
+?/. 1 c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del - c.12delC, p.M5CfsX53 - LRAT_000011 - PubMed: Littink-2012 - - Germline yes - - - - DNA PCR blood - retinal disease - PubMed: Littink-2012 - M - Netherlands - - - - - 1 LOVD
+?/. 1 c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del - c.12delC, p.M5CfsX53 - LRAT_000011 - PubMed: Littink-2012 - - Germline yes - - - - DNA PCR blood - retinal disease - PubMed: Littink-2012 - M - Netherlands - - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease I PubMed: Talib 2019 sibling of II M - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease II PubMed: Talib 2019 sibling of I M - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease III PubMed: Talib 2019 - F - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease IV PubMed: Talib 2019 - M - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease V PubMed: Talib 2019 - F - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease VI PubMed: Talib 2019 - M - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease VII PubMed: Talib 2019 - F - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease VIII PubMed: Talib 2019 - M - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease IX PubMed: Talib 2019 - M - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease X PubMed: Talib 2019 - F - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease XI PubMed: Talib 2019 - F - - Dutch - - - - 1 LOVD
+?/. - c.12del r.(?) p.(Met5Cysfs*54) Both (homozygous) - likely pathogenic g.155665490del g.154744338del LRAT c.12del, p.[Met5Cysfs*53] - LRAT_000011 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA SEQ - - retinal disease XII PubMed: Talib 2019 - F - - Dutch - - - - 1 LOVD
+/. - c.40_41delGAinsTT r.(?) p.(Glu14Leu) Both (homozygous) - pathogenic g.155665518_155665519delinsTT g.154744366_154744367delinsTT LRAT c.40_41delGAinsTT, p.Glu14Leu - LRAT_000043 homozygous PubMed: Scholl 2015 - - Unknown ? - - - - DNA ? - patients already genotyped for clinical trials retinal disease 302 PubMed: Scholl 2015 F - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) 1 LOVD
+?/. - c.40_41delinsTT r.(?) p.(Glu14Leu) Both (homozygous) - likely pathogenic g.155665518_155665519delinsTT g.154744366_154744367delinsTT LRAT c.40-41delGAinsTT, p.Glu14Leu - LRAT_000043 homozygous PubMed: Borman 2012 - - Germline yes - - - - DNA arraySNP, SEQ blood Sanger sequencing retinal disease 2 PubMed: Borman 2012 - F yes - white - - - - 1 LOVD
-/. - c.74T>A r.(?) p.(Phe25Tyr) Unknown - benign g.155665552T>A g.154744400T>A LRAT(NM_004744.5):c.74T>A (p.F25Y) - LRAT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74T>A r.(?) p.(Phe25Tyr) Unknown - VUS g.155665552T>A g.154744400T>A - - LRAT_000012 - PubMed: Wang 2014 - rs75368761 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 27 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
?/. - c.74T>A r.(?) p.(Phe25Tyr) Unknown - VUS g.155665552T>A g.154744400T>A - - LRAT_000012 - PubMed: Wang 2014 - rs75368761 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 50 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. - c.74T>A r.(?) p.(Phe25Tyr) Unknown - likely pathogenic g.? - c.74T>A - TRAPPC11_000000 - PubMed: Song-2011 - rs75368761 Unknown - - - - - DNA arraySEQ, PCR blood - retinal disease - PubMed: Song-2011 - F - - - - - - - 1 LOVD
?/. - c.111C>G r.(?) p.(Asn37Lys) Unknown - VUS g.155665589C>G g.154744437C>G - - LRAT_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.148G>C r.(?) p.(Val50Leu) Unknown - VUS g.155665626G>C g.154744474G>C LRAT(NM_004744.4):c.148G>C (p.V50L) - LRAT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.157_159dup r.(?) p.(Val53dup) Both (homozygous) - likely pathogenic g.155665635_155665637dup g.154744483_154744485dup c.157_159dup, p.(Val53dup) - LRAT_000036 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066853 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
+?/. 2 c.163C>G r.(?) p.(Arg55Gly) Both (homozygous) - likely pathogenic g.155665641C>G g.154744489C>G - - LRAT_000008 - - - - Germline yes - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) LCA IRD4.0_#21 Manuscript under review (González-del Pozo et al., 2018) - F yes Spain - - - - - 1 María González-del Pozo
+?/. - c.163C>G r.(?) p.(Arg55Gly) Both (homozygous) - likely pathogenic g.155665641C>G g.154744489C>G M7: c.163C > G; p.Arg55Gly - LRAT_000008 - PubMed: Gonzalez del Pozo 2018 - - Germline yes - - - - DNA SEQ-NG blood solved retinal disease D (II:1) PubMed: Gonzalez del Pozo 2018 - ? yes Spain - - - - - 1 LOVD
+?/. 2 c.163C>G r.(?) p.(Arg55Gly) Both (homozygous) - likely pathogenic g.155665641C>G g.154744489C>G LRAT Ex.2 c.163C>G p.(Arg55Gly), Ex.2 c.163C>G p.(Arg55Gly) - LRAT_000008 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-0479 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
?/. - c.163C>G r.(?) p.(Arg55Gly) Unknown ACMG VUS g.155665641C>G g.154744489C>G LRAT c.163C>G; p.Arg55GIy - LRAT_000008 homozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 59 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
?/. - c.163C>G r.(?) p.(Arg55Gly) Unknown ACMG VUS g.155665641C>G g.154744489C>G LRAT c.163C>G; p.Arg55GIy - LRAT_000008 homozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 116 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.163C>T r.(?) p.(Arg55Trp) Both (homozygous) - likely pathogenic g.155665641C>T g.154744489C>T - - LRAT_000025 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K1153 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. 2 c.163C>T r.(?) p.(Arg55Trp) Paternal (confirmed) ACMG pathogenic g.155665641C>T g.154744489C>T c.163C>T - LRAT_000025 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease JU1039 PubMed: Hosono 2018 proband, family JIKEI-145 F no Japan Asian - - - - 1 LOVD
+/. 2 c.163C>T r.(?) p.(Arg55Trp) Paternal (confirmed) ACMG pathogenic g.155665641C>T g.154744489C>T c.163C>T - LRAT_000025 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease JU1040 PubMed: Hosono 2018 sister of JU1039, family JIKEI-145 F no Japan Asian - - - - 1 LOVD
-/. - c.174G>C r.(?) p.(Leu58=) Unknown - benign g.155665652G>C g.154744500G>C LRAT(NM_004744.5):c.174G>C (p.L58=) - LRAT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.181T>A r.(?) p.(Tyr61Asn) Both (homozygous) - likely pathogenic g.155665659T>A g.154744507T>A LRAT c.181T>A, p.Tyr61Asp - LRAT_000044 homozygous PubMed: Borman 2012 - - Germline yes - - - - DNA arraySNP, SEQ blood Sanger sequencing retinal disease 3 PubMed: Borman 2012 - M no - white - - - - 1 LOVD
+/. - c.181T>A r.(?) p.(Tyr61Asn) Both (homozygous) - pathogenic g.155665659T>A g.154744507T>A LRAT c.181T>A, p.Tyr61Asp - LRAT_000044 homozygous PubMed: Scholl 2015 - - Unknown ? - - - - DNA ? - patients already genotyped for clinical trials retinal disease 111 PubMed: Scholl 2015 M - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) 1 LOVD
?/. - c.215A>C r.(?) p.(His72Pro) Unknown - VUS g.155665693A>C - - - LRAT_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.217_218del r.? p.(Met73Aspfs*48) Both (homozygous) - pathogenic g.155665695_155665696del - c.217_218del - LRAT_000030 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+?/. - c.217_218delAT r.(?) p.(Met73Aspfs*48) Both (homozygous) - likely pathogenic g.155665695_155665696del g.154744543_154744544del LRAT c.217_218delAT, causing a frameshift at codon 73, which leads to a premature stop at alanine 120 - LRAT_000030 homozygous PubMed: Senechal 2006 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 2 PubMed: Senechal 2006 - M yes - - - - - - 1 LOVD
+?/. - c.233_242del r.(?) p.(Leu78ArgfsTer85) Unknown - likely pathogenic g.155665711_155665720del g.154744559_154744568del - - LRAT_000022 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG1182 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.233_242del r.(?) p.(Leu78Argfs*85) Both (homozygous) ACMG pathogenic (recessive) g.155665711_155665720del g.154744559_154744568del NM_004744.3:c.233_242del; p.(Leu78Argfs*85) - LRAT_000022 - PubMed: Patel 2018 - - Germline yes - - - - DNA SEQ-NG - 322 eye disease gene panel retinal disease 11DG0632 PubMed: Patel 2018 - - yes Saudi Arabia - - - - - 1 LOVD
+/. 1 c.233_242del r.(?) p.(Leu78Argfs*85) Both (homozygous) - pathogenic g.155665711_155665720del - c.233_242del - LRAT_000022 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M yes Saudi Arabia - - - - - 1 LOVD
?/. 1 c.236T>G r.(?) p.? Unknown - VUS g.155665714T>G - c.236T>G (p.(Leu79Trp)) - LRAT_000039 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: SkorczykWerner 2020 - F - - Polish - - - - 1 LOVD
+/. - c.241_242del r.(?) p.(Leu81Aspfs*40) Both (homozygous) ACMG pathogenic (recessive) g.155665719_155665720del g.154744567_154744568del NM_004744.3:c.241_242del; p.(Leu81Aspfs*40) - LRAT_000029 - PubMed: Patel 2018 - - Germline yes - - - - DNA SEQ-NG - 322 eye disease gene panel (negative), WES retinal disease 12DG0405 PubMed: Patel 2018 - - likely Saudi Arabia - - - - - 1 LOVD
+?/. - c.264_265dup r.(?) p.(Gln89Argfs*78) Unknown ACMG likely pathogenic g.155665742_155665743dup g.154744590_154744591dup LRAT c.264_265dup, p.(Gln89Argfs*78) - LRAT_000033 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 422 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.271G>A r.(?) p.(Val91Met) Unknown - VUS g.155665749G>A g.154744597G>A - - LRAT_000026 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 36 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
?/. - c.298G>A r.(?) p.(Gly100Ser) Unknown ACMG VUS g.155665776G>A g.154744624G>A LRAT c.298G>A; p.GIy100Ser - LRAT_000038 homozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 55 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
?/. - c.298G>A r.(?) p.(Gly100Ser) Unknown ACMG VUS g.155665776G>A g.154744624G>A LRAT c.298G>A; p.GIy100Ser - LRAT_000038 homozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 57 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
?/. - c.298G>A r.(?) p.(Gly100Ser) Unknown ACMG VUS g.155665776G>A g.154744624G>A LRAT c.298G>A; p.GIy100Ser - LRAT_000038 homozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 58 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
?/. - c.298G>A r.(?) p.(Gly100Ser) Unknown ACMG VUS g.155665776G>A g.154744624G>A LRAT c.298G>A; p.GIy100Ser - LRAT_000038 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 56 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.298G>T r.(?) p.(Gly100Cys) Parent #2 - pathogenic g.155665776G>T g.154744624G>T - - LRAT_000023 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp1 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
?/. - c.299G>A r.(?) p.(Gly100Asp) Unknown - VUS g.155665777G>A g.154744625G>A - - LRAT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300C>T r.(?) p.(Gly100=) Unknown - likely benign g.155665778C>T g.154744626C>T LRAT(NM_004744.4):c.300C>T (p.G100=) - LRAT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.312del r.(?) p.(Val105Trpfs*61) Both (homozygous) - likely pathogenic (recessive) g.155665790del g.154744638del - - LRAT_000015 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
?/. - c.314T>G r.(?) p.(Val105Gly) Unknown - VUS g.155665792T>G - LRAT(NM_004744.4):c.314T>G (p.V105G) - LRAT_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Ala106Thr) Both (homozygous) - VUS g.155665794G>A g.154744642G>A LRAT c.316G>A, p.Ala106Thr - LRAT_000045 homozygous PubMed: Borman 2012 - - Unknown ? - - - - DNA arraySNP, SEQ blood Sanger sequencing retinal disease 4 PubMed: Borman 2012 - F no - Caribbean - - - - 1 LOVD
+?/. - c.325C>T r.(?) p.(Arg109Cys) Unknown - likely pathogenic g.155665803C>T g.154744651C>T LRAT p.R109C (c.371C>T) - LRAT_000040 error in annotation: p.R109C is caused by c.1984G>A and not c.1986G>A; heterozygous PubMed: Preising 2007 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease 293_1 PubMed: Preising 2007 family 293, individual 1 ? - - - - - - - 1 LOVD
+?/. - c.326G>T r.(?) p.(Arg109Leu) Both (homozygous) - likely pathogenic g.155665804G>T g.154744652G>T - - LRAT_000027 - PubMed: Coppieters 2014 - - Germline - - - - - DNA SEQ - WES retinal disease Fam2 PubMed: Coppieters 2014 see paper - yes Turkey - - - - - 1 LOVD
+?/. - c.326G>T r.(?) p.(Arg109Leu) Both (homozygous) - likely pathogenic g.155665804G>T g.154744652G>T LRAT c.326G>T, p.[Arg109Leu] - LRAT_000027 homozygous PubMed: Talib 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease XIII PubMed: Talib 2019 - M - - Turkish-Belgian - - - - 1 LOVD
+/. - c.346T>C r.(?) p.(Phe116Leu) Both (homozygous) - pathogenic (recessive) g.155665824T>C - - - LRAT_000020 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam19PatFBP_55 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
?/. - c.346T>C r.(?) p.(Phe116Leu) Unknown ACMG VUS g.155665824T>C g.154744672T>C LRAT c.346T>C; p.Phe116Leu - LRAT_000020 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 56 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
?/. - c.346T>C r.(?) p.(Phe116Leu) Unknown ACMG VUS g.155665824T>C g.154744672T>C LRAT c.346T>C; p.Phe116Leu - LRAT_000020 homozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 60 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.400_401del r.(?) p.(Lys134Glyfs*12) Unknown - likely pathogenic g.110029080T>C g.109591275T>C LRAT 396delAA, shifts the reading frame following codon 133 to encode 11 amino acids (unrelated to the wildtype sequence) followed by a premature stop codon - LRAT_000042 error in annotation, this change should be annotated as c.400_401del; heterozygous; no second allele detected PubMed: Thompson 2001 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease 2910 PubMed: Thompson 2001 - M no - - - - - - 1 LOVD
?/. - c.418G>A r.(?) p.(Glu140Lys) Unknown - VUS g.155665896G>A g.154744744G>A - - LRAT_000010 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/. 2 c.418G>T r.(?) p.(Glu140*) Both (homozygous) - pathogenic g.155665896G>T g.154744744G>T - - LRAT_000002 - PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - retinal disease 61076 PubMed: Li 2017 - F no Pakistan Pakistani - - - - 1 James Hejtmancik
+/. - c.427_428delCG r.(?) p.(Arg143Glufs*3) Both (homozygous) - pathogenic g.155665905_155665906del g.154744753_154744754del LRAT c.427_428delCG, p.Arg143ValfsX3 - LRAT_000046 homozygous PubMed: Scholl 2015 - - Unknown ? - - - - DNA ? - patients already genotyped for clinical trials retinal disease 117 PubMed: Scholl 2015 M - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) 1 LOVD
+/. 1 c.449dup r.(?) p.(Phe151Leufs*33) Both (homozygous) - pathogenic g.155665927dup - c.449dupG - LRAT_000032 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F yes Turkey - - - - - 1 LOVD
+?/. - c.449dup r.(?) p.(Phe151Leufs*33) Parent #1 - likely pathogenic g.155665927dup g.154744775dup LRAT, variant 1: c.449dup/p.F151Lfs*33, variant 2: c.449dup/p.F151Lfs*33 - LRAT_000032 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1132 PubMed: Weisschuh 2020 Filing key number: 780, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.473G>A r.(?) p.(Trp158*) Both (homozygous) - VUS g.155665951G>A g.154744799G>A - - LRAT_000021 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12004275 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. 2 c.487C>G r.(?) p.(His163Asp) Both (homozygous) - likely pathogenic g.155665965C>G g.154744813C>G c.487C>G, p.(His163Asp) - LRAT_000037 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066852 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
+?/. - c.487C>G r.(?) p.(His163Asp) Parent #1 - likely pathogenic g.155665965C>G g.154744813C>G LRAT, variant 1: c.487C>G/p.H163D, variant 2: c.487C>G/p.H163D - LRAT_000037 possibly solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 793 PubMed: Weisschuh 2020 Filing key number: 312, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.488A>T r.(?) p.(His163Leu) Both (homozygous) ACMG VUS g.155665966A>T g.154744814A>T - - LRAT_000050 ACMG PM2, PM5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? LCA-156 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.518C>T r.(?) p.(Pro173Leu) Unknown - likely benign g.155665996C>T g.154744844C>T LRAT c.518C>T, P173L - LRAT_000041 heterozygous; no second allele detected PubMed: Senechal 2006 - - Unknown ? - - - - DNA DHPLC, SEQ blood - retinal disease 1 PubMed: Senechal 2006 - F - - - - - - - 1 LOVD
+/. - c.519del r.(?) p.(Ile174SerfsTer12) Unknown - pathogenic g.155665997del g.154744845del - - LRAT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.519del r.(?) p.(Ile174Serfs*12) Both (homozygous) - VUS g.155665997del - c.519del - LRAT_000007 - PubMed: Collin-2011 - - Germline - - - - - DNA PCR, SEQ, arraySNP blood - retinal disease - PubMed: Collin-2011 - F - Netherlands - - - - - 1 LOVD
+/. - c.519delG r.(?) p.(Ile174Serfs*12) Both (homozygous) - pathogenic g.155665997del g.154744845del LRAT c.519delG, p.Ile174SerfsX12 - LRAT_000007 homozygous PubMed: Scholl 2015 - - Unknown ? - - - - DNA ? - patients already genotyped for clinical trials retinal disease 202 PubMed: Scholl 2015 F - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) 1 LOVD
-?/. - c.519G>T r.(?) p.(Pro173=) Unknown - likely benign g.155665997G>T - LRAT(NM_004744.5):c.519G>T (p.P173=) - LRAT_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.525T>A r.(?) p.(Ser175Arg) Both (homozygous) - likely pathogenic g.155666003T>A g.154744851T>A LRAT c.525T>A, p.Ser175Arg - LRAT_000047 homozygous PubMed: Borman 2012 - - Germline yes - - - - DNA arraySNP, SEQ blood APEX analysis retinal disease 1 PubMed: Borman 2012 - M yes - South-east Asian - - - - 1 LOVD
+?/. - c.525T>A r.(?) p.(Ser175Arg) Both (homozygous) - likely pathogenic g.155666003T>A g.154744851T>A LRAT T->A transversion at nucleotide 525, (S175R) - LRAT_000047 homozygous; S175R mutation leads to loss of LRAT activity, possibly because an essential nucleophilic residue near the active site is lost PubMed: Thompson 2001 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease arRP186 PubMed: Thompson 2001 - F yes - - - - - - 1 LOVD
+?/. - c.525T>A r.(?) p.(Ser175Arg) Both (homozygous) - likely pathogenic g.155666003T>A g.154744851T>A LRAT T->A transversion at nucleotide 526, (S175R) - LRAT_000047 homozygous; S175R mutation leads to loss of LRAT activity, possibly because an essential nucleophilic residue near the active site is lost PubMed: Thompson 2001 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease arRP824 PubMed: Thompson 2001 - F yes - - - - - - 1 LOVD
+/. - c.525T>A r.(?) p.(Ser175Arg) Unknown - pathogenic g.155666003T>A g.154744851T>A LRAT S175R - LRAT_000047 global secondary structure of tLRAT as well as its membrane binding properties remain almost unchanged with the S175R mutation, but no enzymatic activity was observed PubMed: Bussieres 2007 - - In vitro (cloned) ? - - - - DNA STR, SEQ blood - retinal disease ? PubMed: Bussieres 2007 cell line investigation (HEK cells) - - - - - - - - 1 LOVD
+/. - c.525T>A r.(?) p.(Ser175Arg) Both (homozygous) - pathogenic g.155666003T>A g.154744851T>A LRAT c.525T>A, p.Ser175Arg - LRAT_000047 homozygous PubMed: Scholl 2015 - - Unknown ? - - - - DNA ? - patients already genotyped for clinical trials retinal disease 110 PubMed: Scholl 2015 M - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) 1 LOVD
+/. 2 c.538A>T r.(?) p.(Lys180*) Both (homozygous) - pathogenic g.155666016A>T g.154744864A>T - - LRAT_000001 - PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - retinal disease 61120 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - 1 James Hejtmancik
-?/. - c.541-37G>A r.(=) p.(=) Unknown - likely benign (recessive) g.155670099G>A - g.155670099G>A* - LRAT_000035 - PubMed: Anasagasti-2013 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
-?/. 2i c.541-15T>G r.(?) p.(?) Both (homozygous) - pathogenic g.155670121T>G g.154748969T>G LRAT c.541-15T>G - LRAT_000048 homozygous; exon 3 skipping in minigene assays PubMed: Chen 2018 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease fam61254pat7 PubMed: Chen 2018 family 61254 M yes Pakistan - - - - - 1 LOVD
-?/. 2i c.541-15T>G r.(?) p.(?) Both (homozygous) - pathogenic g.155670121T>G g.154748969T>G LRAT c.541-15T>G - LRAT_000048 homozygous; exon 3 skipping in minigene assays PubMed: Chen 2018 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease fam61254pat8 PubMed: Chen 2018 family 61254 M yes Pakistan - - - - - 1 LOVD
-?/. 2i c.541-15T>G r.(?) p.(?) Both (homozygous) - pathogenic g.155670121T>G g.154748969T>G LRAT c.541-15T>G - LRAT_000048 homozygous; exon 3 skipping in minigene assays PubMed: Chen 2018 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease fam61254pat32 PubMed: Chen 2018 family 61254 M yes Pakistan - - - - - 1 LOVD
-?/. 2i c.541-15T>G r.(?) p.(?) Both (homozygous) - pathogenic g.155670121T>G g.154748969T>G LRAT c.541-15T>G - LRAT_000048 homozygous; exon 3 skipping in minigene assays PubMed: Chen 2018 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease fam61254pat33 PubMed: Chen 2018 family 61254 F yes Pakistan - - - - - 1 LOVD
-?/. 2i c.541-15T>G r.(?) p.(?) Both (homozygous) - pathogenic g.155670121T>G g.154748969T>G LRAT c.541-15T>G - LRAT_000048 homozygous; exon 3 skipping in minigene assays PubMed: Chen 2018 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease fam61254pat42 PubMed: Chen 2018 family 61254 F yes Pakistan - - - - - 1 LOVD
-?/. 2i c.541-15T>G r.(?) p.(?) Both (homozygous) - pathogenic g.155670121T>G g.154748969T>G LRAT c.541-15T>G - LRAT_000048 homozygous; exon 3 skipping in minigene assays PubMed: Chen 2018 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease fam61254pat43 PubMed: Chen 2018 family 61254 F yes Pakistan - - - - - 1 LOVD
+/. - c.554_555del r.(?) p.(Val185Glufs*6) Unknown - pathogenic g.155670149_155670150del - LRAT(NM_004744.4):c.554_555delTG (p.V185Efs*6) - LRAT_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.569G>A r.(?) p.(Arg190His) Parent #1 - pathogenic g.155670164G>A g.154749012G>A - - LRAT_000024 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp1 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
+?/. - c.569G>A r.(?) p.(Arg190His) Unknown - likely pathogenic g.155670164G>A g.154749012G>A LRAT p.R190H (c.605G>A) - LRAT_000024 error in annotation: p.R190H is caused by c.569G>A and not c.605G>A; heterozygous PubMed: Preising 2007 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease 293_1 PubMed: Preising 2007 family 293, individual 1 ? - - - - - - - 1 LOVD
+?/. - c.569G>A r.(?) p.(Arg190His) Unknown - likely pathogenic g.155670164G>A - - - LRAT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.614C>A r.(?) p.? Both (homozygous) - pathogenic g.155670209C>A - p.S205Yfs×27 - LRAT_000031 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+/. - c.614_615del r.(?) p.(Ser205Tyrfs*51) Both (homozygous) ACMG pathogenic g.155670209_155670210del g.154749057_154749058del 614_615delCT - LRAT_000017 ACMG PVS1, PM2, PP1PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 1274 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
-/. - c.627G>A r.(?) p.(Thr209=) Unknown - benign g.155670222G>A g.154749070G>A LRAT(NM_004744.5):c.627G>A (p.T209=) - LRAT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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