Total 133 pathogenic variants reported for Sjögren-Larsson syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr) SNV
Germline		 Chr17:19656535 Pathogenic Sjögren-Larsson syndrome No Assertion Criteria Provided
 CA115115

1 SubmittersRCV000001706
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) SNV
Germline		 Chr17:19663335 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115116 rs_72547571

14 SubmittersRCV000001707RCV000255529
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) SNV
Germline		 Chr17:19657862 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115119 rs_72547569

3 SubmittersRCV000001710RCV000414702
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) SNV
Germline		 Chr17:19664997 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115120 rs_72547575

6 SubmittersRCV000001711RCV000793431
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) SNV
Germline		 Chr17:19648999 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA199076 rs_72547554

4 SubmittersRCV000169182RCV001041547
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) SNV
Germline		 Chr17:19656445 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199055 rs_72547562

7 SubmittersRCV000169091RCV000427449
NM_000382.3(ALDH3A2):c.798+5G>A SNV
Germline		 Chr17:19657867 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199114

3 SubmittersRCV000169484RCV002516533
NM_000382.3(ALDH3A2):c.623T>C (p.Leu208Pro) SNV
Germline		 Chr17:19656517 Likely pathogenic Condition: not provided
Sjögren-Larsson syndrome		 Criteria Provided
Single Submitter
 CA235957 rs_786205501

1 SubmittersRCV000171251RCV004527366
NM_000382.3(ALDH3A2):c.1108-3C>T SNV
Germline		 Chr17:19664945 Conflicting classifications of pathogenicity Condition: not provided
Sjögren-Larsson syndrome
ALDH3A2-related disorder		 Criteria Provided
Conflicting Classifications
 CA247526 rs_148944691

4 SubmittersRCV000180151RCV001833094RCV003967442
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) SNV
Germline		 Chr17:19656423 Pathogenic/Likely pathogenic Condition: not provided
Sjögren-Larsson syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8442844 rs_72547561

7 SubmittersRCV000255332RCV000316840
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) SNV
Germline		 Chr17:19657797 Pathogenic/Likely pathogenic Condition: not provided
Sjögren-Larsson syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8442901 rs_72547568

7 SubmittersRCV000255515RCV000663418
NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=) SNV
Germline		 Chr17:19661246 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10639148

2 SubmittersRCV000294875RCV003660781
NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=) SNV
Germline		 Chr17:19663349 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10639149 rs_886052690

2 SubmittersRCV000333430RCV000944498
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) SNV
Germline		 Chr17:19652578 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8442805 rs_200806435

4 SubmittersRCV000259431RCV000940500
NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=) SNV
Germline		 Chr17:19657850 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10648773 rs_886052688

2 SubmittersRCV000386897RCV001500270
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) SNV
Germline		 Chr17:19665028 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8443031 rs_144496536

3 SubmittersRCV000289136RCV000939766
NM_000382.3(ALDH3A2):c.1444-4C>T SNV
Germline		 Chr17:19675554 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8443128

2 SubmittersRCV000390932RCV002522924
NM_000382.3(ALDH3A2):c.153+2T>G SNV
Unknown		 Chr17:19649126 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter
 CA16041806

1 SubmittersRCV000411762
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter) SNV
Unknown		 Chr17:19651627 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter
 CA16041808

1 SubmittersRCV000410260
NM_000382.3(ALDH3A2):c.798+1G>A SNV
Unknown		 Chr17:19657863 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter
 CA16041812

1 SubmittersRCV000409063
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu) SNV
Germline		 Chr17:19663486 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041815 rs_72547573

3 SubmittersRCV000410901RCV001216194
NM_000382.3(ALDH3A2):c.1108-2A>G SNV
Unknown		 Chr17:19664946 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter
 CA16041816

1 SubmittersRCV000411031
NM_000382.3(ALDH3A2):c.1108-1G>C SNV
Germline		 Chr17:19664947 Pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041817 rs_1036733598

5 SubmittersRCV000411369RCV001861367
NM_000382.3(ALDH3A2):c.1108-1G>T SNV
Germline		 Chr17:19664947 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041818 rs_1036733598

3 SubmittersRCV000410648RCV001861368
NM_000382.3(ALDH3A2):c.1444-1G>T SNV
Unknown		 Chr17:19675557 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter
 CA16041820

1 SubmittersRCV000410461
NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter) SNV
Germline		 Chr17:19649074 Pathogenic Sjögren-Larsson syndrome No Assertion Criteria Provided
 CA398700781

1 SubmittersRCV000504626
NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu) SNV
Germline		 Chr17:19656525 Pathogenic Sjögren-Larsson syndrome No Assertion Criteria Provided
 CA398706571

1 SubmittersRCV000504979
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) SNV
Germline		 Chr17:19648999 Conflicting classifications of pathogenicity Condition: not provided
Sjögren-Larsson syndrome
ALDH3A2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8442704 rs_72547554

8 SubmittersRCV000588256RCV001127573RCV003915682
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val) SNV
Unknown		 Chr17:19661236 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter
 CA398709342

1 SubmittersRCV000625950
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys) SNV
Germline		 Chr17:19648973 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV000667969RCV003708546
NM_000382.3(ALDH3A2):c.471+2T>G SNV
Unknown		 Chr17:19652634 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000670542
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter) SNV
Unknown		 Chr17:19671790 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000668072
NM_000382.3(ALDH3A2):c.472-2A>G SNV
Germline		 Chr17:19656364 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV000670121
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) SNV
Germline		 Chr17:19657746 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72547566

8 SubmittersRCV000672596RCV001383429
NM_000382.3(ALDH3A2):c.1108-1G>A SNV
Unknown		 Chr17:19664947 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000674269
NM_000382.3(ALDH3A2):c.1207+1G>A SNV
Unknown		 Chr17:19665048 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000673553
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val) SNV
Unknown		 Chr17:19648972 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000666856
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu) SNV
Germline		 Chr17:19648972 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV000666849
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter) SNV
Germline		 Chr17:19649044 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2152325575

2 SubmittersRCV000670068RCV001861786
NM_000382.3(ALDH3A2):c.1443+1G>A SNV
Germline		 Chr17:19671957 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_199548781

3 SubmittersRCV000671279RCV002222597
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile) SNV
Unknown		 Chr17:19648974 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000666846
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile) SNV
Germline		 Chr17:19648974 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV000668039RCV003574796
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter) SNV
Unknown		 Chr17:19671880 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000668120
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter) SNV
Germline		 Chr17:19671822 Pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567607328

3 SubmittersRCV000757940RCV000760414
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter) SNV
Unknown		 Chr17:19661165 Pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000761416
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr) SNV
Germline		 Chr17:19657774 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72547567

3 SubmittersRCV000778493RCV001377682
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His) SNV
Germline		 Chr17:19657747 Pathogenic Condition: not provided
Sjögren-Larsson syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_866392702

3 SubmittersRCV000809699RCV001334407
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) SNV
Germline		 Chr17:19649090 Conflicting classifications of pathogenicity Condition: not provided
Sjögren-Larsson syndrome		 Criteria Provided
Conflicting Classifications
 rs_147190807

3 SubmittersRCV000902983RCV001127575
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) SNV
Germline		 Chr17:19671911 Conflicting classifications of pathogenicity Condition: not provided
Sjögren-Larsson syndrome		 Criteria Provided
Conflicting Classifications
 rs_150927045

4 SubmittersRCV000908787RCV001125562
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=) SNV
Germline		 Chr17:19656533 Conflicting classifications of pathogenicity Condition: not provided
Sjögren-Larsson syndrome		 Criteria Provided
Conflicting Classifications
 rs_140649688

4 SubmittersRCV000934045RCV001123461
NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly) SNV
Germline		 Chr17:19663381 Conflicting classifications of pathogenicity Condition: not provided
Sjögren-Larsson syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_147200808

4 SubmittersRCV000944501RCV001124550RCV002545977
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter) SNV
Germline		 Chr17:19657841 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555533754

4 SubmittersRCV000991399RCV002264991
NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter) SNV
Germline		 Chr17:19649021 Pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1447023449

2 SubmittersRCV001007560RCV001862748
NM_000382.3(ALDH3A2):c.385+2T>C SNV
Germline		 Chr17:19651780 Pathogenic Condition: not provided
Sjögren-Larsson syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2084819840

2 SubmittersRCV001047912RCV002265933
NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=) SNV
Germline		 Chr17:19649058 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_749679693

2 SubmittersRCV001127574RCV001464468
NM_000382.3(ALDH3A2):c.303T>C (p.Pro101=) SNV
Germline		 Chr17:19651696 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_773093556

2 SubmittersRCV001127577RCV001501082
NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn) SNV
Germline		 Chr17:19663370 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_143717984

4 SubmittersRCV001124549RCV001485162RCV003163282
NM_000382.3(ALDH3A2):c.1254T>C (p.Thr418=) SNV
Germline		 Chr17:19671767 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_373251784

3 SubmittersRCV001124551RCV001431042
NM_000382.3(ALDH3A2):c.1347T>C (p.Asp449=) SNV
Germline		 Chr17:19671860 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1054840414

2 SubmittersRCV001124552RCV001401278
NM_000382.3(ALDH3A2):c.1392C>T (p.Leu464=) SNV
Germline		 Chr17:19671905 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_181889379

2 SubmittersRCV001125561RCV002070047
NM_000382.3(ALDH3A2):c.1431T>A (p.Ala477=) SNV
Germline		 Chr17:19671944 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1320588121

2 SubmittersRCV001125563RCV001456240
NM_000382.3(ALDH3A2):c.799-6A>G SNV
Germline		 Chr17:19661121 Conflicting classifications of pathogenicity Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_746519259

2 SubmittersRCV001123462RCV001453504
NM_000382.3(ALDH3A2):c.471+1G>C SNV
Germline		 Chr17:19652633 Pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001255500
NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter) SNV
Unknown		 Chr17:19652625 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001263811
NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter) SNV
Unknown		 Chr17:19656465 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001263812
NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter) SNV
Unknown		 Chr17:19656546 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001263813
NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter) SNV
Unknown		 Chr17:19657824 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001263814
NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter) SNV
Unknown		 Chr17:19657848 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001263978
NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter) SNV
Germline		 Chr17:19661127 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001263979RCV003770372
NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter) SNV
Unknown		 Chr17:19663392 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001263980
NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter) SNV
Unknown		 Chr17:19664981 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001263981
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter) SNV
Germline		 Chr17:19648981 Likely pathogenic Sjögren-Larsson syndrome No Assertion Criteria Provided

1 SubmittersRCV001291415
NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser) SNV
Germline		 Chr17:19663395 Pathogenic Sjögren-Larsson syndrome No Assertion Criteria Provided

1 SubmittersRCV001528111
NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter) SNV
Germline		 Chr17:19657840 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001785907
NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His) SNV
Germline		 Chr17:19671781 Pathogenic/Likely pathogenic Condition: not provided
Sjögren-Larsson syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_768290318

2 SubmittersRCV001958936RCV003230721
NM_000382.3(ALDH3A2):c.913G>T (p.Glu305Ter) SNV
Unknown		 Chr17:19661241 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306488
NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter) SNV
Unknown		 Chr17:19657787 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309022
NM_000382.3(ALDH3A2):c.680+1G>A SNV
Germline		 Chr17:19656575 Pathogenic/Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002510391RCV004721080
NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu) SNV
Germline		 Chr17:19651734 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003146205
NM_000382.3(ALDH3A2):c.681-1G>A SNV
Germline		 Chr17:19657744 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003155647
NM_000382.3(ALDH3A2):c.681-14T>A SNV
Germline		 Chr17:19657731 Likely pathogenic Sjögren-Larsson syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003333599RCV003561312
NM_000382.3(ALDH3A2):c.1350G>A (p.Trp450Ter) SNV
Germline		 Chr17:19671863 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003989438
NM_000382.3(ALDH3A2):c.385+1G>C SNV
Germline		 Chr17:19651779 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004527524
NM_000382.3(ALDH3A2):c.551C>G (p.Thr184Arg) SNV
Germline		 Chr17:19656445 Pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004587796
NM_000382.3(ALDH3A2):c.1198G>A (p.Gly400Arg) SNV
Germline		 Chr17:19665038 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004689555
NM_000382.3(ALDH3A2):c.142G>T (p.Asp48Tyr) SNV
Germline		 Chr17:19649113 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004702694
NM_000382.3(ALDH3A2):c.362C>T (p.Pro121Leu) SNV
Germline		 Chr17:19651755 Likely pathogenic Sjögren-Larsson syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004701207