A total 47 pathogenic variants reported in gene lecithin retinol acyltransferase (LRAT)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) SNV
Germline		 Chr4:154744851 Pathogenic RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
Condition: not provided		 Criteria Provided
Single Submitter
 CA117411 rs_104893848

3 SubmittersRCV000005661RCV000086208
NM_004744.5(LRAT):c.163C>T (p.Arg55Trp) SNV
Germline		 Chr4:154744489 Pathogenic Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270087 rs_527236079

3 SubmittersRCV000132653RCV003556177RCV005431484
NM_004744.5(LRAT):c.473G>A (p.Trp158Ter) SNV
Germline		 Chr4:154744799 Pathogenic Retinal dystrophy
Condition: not provided		 Criteria Provided
Single Submitter
 CA10581662 rs_878853351

2 SubmittersRCV000225673RCV000760505
NM_004744.5(LRAT):c.258G>A (p.Gly86=) SNV
Germline		 Chr4:154744584 Conflicting classifications of pathogenicity Leber congenital amaurosis 14
Retinitis pigmentosa
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10617244 rs_768389044

2 SubmittersRCV000290030RCV000384403RCV005090562
NM_004744.5(LRAT):c.*98C>T SNV
Germline		 Chr4:154749234 Conflicting classifications of pathogenicity Leber congenital amaurosis 14
Retinitis pigmentosa
Rod-cone dystrophy		 Criteria Provided
Conflicting Classifications
 CA10620306 rs_529360609

2 SubmittersRCV000277933RCV000333107RCV001090045
NM_004744.5(LRAT):c.487C>G (p.His163Asp) SNV
Germline		 Chr4:154744813 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 14		 Criteria Provided
Conflicting Classifications
 CA16621821 rs_1010347467

5 SubmittersRCV000487578RCV001199703RCV003155209
NM_004744.5(LRAT):c.300C>T (p.Gly100=) SNV
Germline		 Chr4:154744626 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3115846 rs_770608706

3 SubmittersRCV000595141RCV004984995
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) SNV
Germline		 Chr4:154744366 Likely pathogenic Leber congenital amaurosis Criteria Provided
Single Submitter
 CA358629850 rs_768255532

1 SubmittersRCV000826116
NM_004744.5(LRAT):c.611C>T (p.Ala204Val) SNV
Germline		 Chr4:154749054 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 14
Retinitis pigmentosa
Leber congenital amaurosis 14		 Criteria Provided
Conflicting Classifications
 CA3115915 rs_144754979

4 SubmittersRCV000877819RCV003132118RCV005392494
NM_004744.5(LRAT):c.8A>G (p.Asn3Ser) SNV
Germline		 Chr4:154744334 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3115801 rs_199634166

2 SubmittersRCV000981663RCV004986724
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly) SNV
Germline		 Chr4:154744489 Pathogenic/Likely pathogenic Leber congenital amaurosis 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358630110 rs_527236079

2 SubmittersRCV000987482RCV001858668
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) SNV
Germline		 Chr4:154744624 Conflicting classifications of pathogenicity Leber congenital amaurosis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA108930213 rs_1035206645

2 SubmittersRCV000987483RCV002549681
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) SNV
Germline		 Chr4:154744672 Conflicting classifications of pathogenicity Leber congenital amaurosis 1
Condition: not provided
Leber congenital amaurosis 14		 Criteria Provided
Conflicting Classifications
 CA358630499 rs_1578860322

3 SubmittersRCV000987484RCV001858669RCV002250709
NM_004744.5(LRAT):c.139C>T (p.Arg47Ter) SNV
Germline		 Chr4:154744465 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis 14
Retinitis pigmentosa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA108930202 rs_779996159

3 SubmittersRCV001008711RCV005394622
NM_004744.5(LRAT):c.519G>T (p.Pro173=) SNV
Germline		 Chr4:154744845 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 14
Condition: not provided
LRAT-related disorder		 Criteria Provided
Conflicting Classifications
 CA3115885 rs_375365480

3 SubmittersRCV001148967RCV001148966RCV002070807RCV003938513
NM_004744.5(LRAT):c.149T>G (p.Val50Gly) SNV
Germline		 Chr4:154744475 Likely pathogenic Leber congenital amaurosis 14 No Assertion Criteria Provided
 CA358630086 rs_1384466058

1 SubmittersRCV001257119
NM_004744.5(LRAT):c.481T>C (p.Cys161Arg) SNV
Germline		 Chr4:154744807 Likely pathogenic Leber congenital amaurosis 14 No Assertion Criteria Provided
 CA358630779 rs_1732848653

1 SubmittersRCV001257116
NM_004744.5(LRAT):c.316G>A (p.Ala106Thr) SNV
Germline		 Chr4:154744642 Conflicting classifications of pathogenicity Leber congenital amaurosis 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA108930214 rs_920685564

2 SubmittersRCV001376402RCV005648142
NM_004744.5(LRAT):c.224C>T (p.Pro75Leu) SNV
Germline		 Chr4:154744550 Conflicting classifications of pathogenicity Leber congenital amaurosis 14
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3115838 rs_766279892

3 SubmittersRCV001526724RCV002568846RCV005057484
NM_004744.5(LRAT):c.504C>A (p.Cys168Ter) SNV
Germline		 Chr4:154744830 Pathogenic Leber congenital amaurosis 14
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3115884 rs_780578479

2 SubmittersRCV001526725RCV002568132
NM_004744.5(LRAT):c.608T>A (p.Leu203Ter) SNV
Germline		 Chr4:154749051 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA358631069 rs_2111038250

1 SubmittersRCV001984451
NM_004744.5(LRAT):c.462C>A (p.Tyr154Ter) SNV
Germline		 Chr4:154744788 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA358630737 rs_1560871145

1 SubmittersRCV003563222
NM_004744.5(LRAT):c.540+1G>A SNV
Germline		 Chr4:154744867 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA358630913 rs_1439470206

1 SubmittersRCV003735544
NM_004744.5(LRAT):c.571G>T (p.Asp191Tyr) SNV
Germline		 Chr4:154749014 Likely pathogenic Retinal dystrophy No Assertion Criteria Provided

1 SubmittersRCV004817267
NM_004744.5(LRAT):c.470T>C (p.Leu157Pro) SNV
Germline		 Chr4:154744796 Likely pathogenic Leber congenital amaurosis Criteria Provided
Single Submitter

1 SubmittersRCV004689544