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	rs_72547564	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 SubmittersRCV000001707 RCV000255529
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 SubmittersRCV000001710 RCV000414702
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)	SNV Germline	Chr17:19664997	Pathogenic	Sjögren-Larsson syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115120	rs_72547575	6 SubmittersRCV000001711 RCV000793431
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)	SNV Germline	Chr17:19648999	Pathogenic	Sjögren-Larsson syndrome Condition: not provided	Criteria Provided Single Submitter	CA199076	rs_72547554	3 SubmittersRCV000169182 RCV001041547
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)	SNV Germline	Chr17:19656445	Pathogenic	Sjögren-Larsson syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA199055	rs_72547562	8 SubmittersRCV000169091 RCV000427449
NM_000382.3(ALDH3A2):c.798+5G>A	SNV Germline	Chr17:19657867	Pathogenic	Sjögren-Larsson syndrome Condition: not provided	Criteria Provided Single Submitter	CA199114	rs_786204677	3 SubmittersRCV000169484 RCV002516533
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	2 SubmittersRCV000171251 RCV004527366
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 SubmittersRCV000180151 RCV001833094 RCV003967442
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 SubmittersRCV000255332 RCV000316840
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 SubmittersRCV000255515 RCV000663418
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	rs_886052689	2 SubmittersRCV000294875 RCV003660781
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 SubmittersRCV000333430 RCV000944498
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 SubmittersRCV000259431 RCV000940500
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 SubmittersRCV000386897 RCV001500270
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 SubmittersRCV000289136 RCV000939766
NM_000382.3(ALDH3A2):c.1444-4C>T	SNV Germline	Chr17:19675554	Conflicting classifications of pathogenicity	Condition: not provided Sjögren-Larsson syndrome	Criteria Provided Conflicting Classifications	CA8443128	rs_192458322	2 SubmittersRCV002522924 RCV000390932
NM_000382.3(ALDH3A2):c.153+2T>G	SNV Unknown	Chr17:19649126	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA16041806	rs_1057516863	1 SubmittersRCV000411762
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)	SNV Unknown	Chr17:19651627	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA16041808	rs_759874793	1 SubmittersRCV000410260
NM_000382.3(ALDH3A2):c.798+1G>A	SNV Unknown	Chr17:19657863	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA16041812	rs_1057517278	1 SubmittersRCV000409063
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)	SNV Germline	Chr17:19663486	Pathogenic	Sjögren-Larsson syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041815	rs_72547573	3 SubmittersRCV000410901 RCV001216194
NM_000382.3(ALDH3A2):c.1108-2A>G	SNV Unknown	Chr17:19664946	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA16041816	rs_1057516742	1 SubmittersRCV000411031
NM_000382.3(ALDH3A2):c.1108-1G>C	SNV Germline	Chr17:19664947	Pathogenic	Condition: not provided Sjögren-Larsson syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16041817	rs_1036733598	6 SubmittersRCV001861367 RCV000411369
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 SubmittersRCV000410648 RCV001861368
NM_000382.3(ALDH3A2):c.1444-1G>T	SNV Unknown	Chr17:19675557	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA16041820	rs_1057517004	1 SubmittersRCV000410461
NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter)	SNV Germline	Chr17:19649074	Pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA398700781	rs_2544349280	1 SubmittersRCV000504626
NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu)	SNV Germline	Chr17:19656525	Pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA398706571	rs_2544372398	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 SubmittersRCV000588256 RCV001127573 RCV003915682
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)	SNV Unknown	Chr17:19661236	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398709342	rs_2544383909	1 SubmittersRCV000625950
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)	SNV Germline	Chr17:19648973	Pathogenic	Sjögren-Larsson syndrome Condition: not provided	Criteria Provided Single Submitter	CA288537374	rs_61737991	2 SubmittersRCV000667969 RCV003708546
NM_000382.3(ALDH3A2):c.471+2T>G	SNV Unknown	Chr17:19652634	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA398703518	rs_2544360565	1 SubmittersRCV000670542
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)	SNV Unknown	Chr17:19671790	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA288556497	rs_72547577	1 SubmittersRCV000668072
NM_000382.3(ALDH3A2):c.472-2A>G	SNV Germline	Chr17:19656364	Pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398705818	rs_2544371353	2 SubmittersRCV000670121
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)	SNV Germline	Chr17:19657746	Pathogenic	Sjögren-Larsson syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA288545096	rs_72547566	8 SubmittersRCV000672596 RCV001383429
NM_000382.3(ALDH3A2):c.1108-1G>A	SNV Unknown	Chr17:19664947	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA398710302	rs_1036733598	1 SubmittersRCV000674269
NM_000382.3(ALDH3A2):c.1207+1G>A	SNV Unknown	Chr17:19665048	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA398710520	rs_2544393489	1 SubmittersRCV000673553
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)	SNV Unknown	Chr17:19648972	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA398700322	rs_2544348561	1 SubmittersRCV000666856
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)	SNV Germline	Chr17:19648972	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398700324	rs_2544348561	2 SubmittersRCV000666849
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter)	SNV Germline	Chr17:19649044	Pathogenic	Sjögren-Larsson syndrome Condition: not provided	Criteria Provided Single Submitter	CA398700669	rs_2152325575	2 SubmittersRCV000670068 RCV001861786
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	CA8443080	rs_199548781	4 SubmittersRCV000671279 RCV002222597
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)	SNV Unknown	Chr17:19648974	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA398700330	rs_2084774156	1 SubmittersRCV000666846
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)	SNV Germline	Chr17:19648974	Pathogenic	Sjögren-Larsson syndrome Condition: not provided	Criteria Provided Single Submitter	CA398700332	rs_2084774156	2 SubmittersRCV000668039 RCV003574796
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)	SNV Unknown	Chr17:19671880	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA398710936	rs_2544405872	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	CA398710803	rs_1567607328	3 SubmittersRCV000757940 RCV000760414
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)	SNV Unknown	Chr17:19661165	Pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398709157	rs_2544383508	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	CA288545138	rs_72547567	3 SubmittersRCV000778493 RCV001377682
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	CA288545098	rs_866392702	3 SubmittersRCV000809699 RCV001334407
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	CA8442721	rs_147190807	3 SubmittersRCV000902983 RCV001127575
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	CA8443072	rs_150927045	4 SubmittersRCV000908787 RCV001125562
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	CA8442862	rs_140649688	4 SubmittersRCV000934045 RCV001123461
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	CA8442984	rs_147200808	5 SubmittersRCV000944501 RCV001124550 RCV002545977
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	CA398707097	rs_1555533754	4 SubmittersRCV000991399 RCV002264991
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	CA398700569	rs_1447023449	2 SubmittersRCV001007560 RCV001862748
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	CA398702710	rs_2084819840	2 SubmittersRCV001047912 RCV002265933
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	CA8442713	rs_749679693	2 SubmittersRCV001127574 RCV001464468
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	CA8442768	rs_773093556	2 SubmittersRCV001127577 RCV001501082
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	CA8442981	rs_143717984	4 SubmittersRCV001124549 RCV001485162 RCV003163282
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	CA8443054	rs_373251784	3 SubmittersRCV001124551 RCV001431042
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	CA288556589	rs_1054840414	2 SubmittersRCV001124552 RCV001401278
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	CA8443070	rs_181889379	2 SubmittersRCV001125561 RCV002070047
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	CA498620059	rs_1320588121	2 SubmittersRCV001125563 RCV001456240
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	CA8442924	rs_746519259	2 SubmittersRCV001123462 RCV001453504
NM_000382.3(ALDH3A2):c.471+1G>C	SNV Germline	Chr17:19652633	Pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA8442811	rs_769821628	1 SubmittersRCV001255500
NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)	SNV Unknown	Chr17:19652625	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398703466	rs_2544360487	1 SubmittersRCV001263811
NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)	SNV Unknown	Chr17:19656465	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398706445	rs_377139218	1 SubmittersRCV001263812
NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)	SNV Unknown	Chr17:19656546	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398706622	rs_2544372582	1 SubmittersRCV001263813
NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)	SNV Unknown	Chr17:19657824	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398706961	rs_2544376116	1 SubmittersRCV001263814
NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)	SNV Unknown	Chr17:19657848	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398707148	rs_2544376202	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	CA398708943	rs_1457784654	2 SubmittersRCV001263979 RCV003770372
NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)	SNV Unknown	Chr17:19663392	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398709969	rs_112346474	1 SubmittersRCV001263980
NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)	SNV Unknown	Chr17:19664981	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398710379	rs_2544393217	1 SubmittersRCV001263981
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)	SNV Germline	Chr17:19648981	Likely pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA398700374	rs_770427442	1 SubmittersRCV001291415
NM_000382.3(ALDH3A2):c.681-2A>G	SNV Germline	Chr17:19657743	Likely pathogenic	Condition: not provided Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398706691	rs_2152328724	2 SubmittersRCV001383428 RCV005614537
NM_000382.3(ALDH3A2):c.1412T>C (p.Phe471Ser)	SNV Germline	Chr17:19671925	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sjögren-Larsson syndrome	Criteria Provided Conflicting Classifications	CA8443073	rs_141112437	5 SubmittersRCV001401476 RCV002552731 RCV005361599
NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)	SNV Germline	Chr17:19663395	Pathogenic	Sjögren-Larsson syndrome	No Assertion Criteria Provided	CA398709977	rs_2544389390	1 SubmittersRCV001528111
NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter)	SNV Germline	Chr17:19657840	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA8442906	rs_369385931	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	CA8443057	rs_768290318	4 SubmittersRCV001958936 RCV003230721
NM_000382.3(ALDH3A2):c.913G>T (p.Glu305Ter)	SNV Unknown	Chr17:19661241	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398709351	rs_751079690	1 SubmittersRCV002306488
NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter)	SNV Unknown	Chr17:19657787	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398706791	rs_2544375892	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	CA398706684	rs_2544372788	2 SubmittersRCV002510391 RCV004721080
NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu)	SNV Germline	Chr17:19651734	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA288539851	rs_72547559	1 SubmittersRCV003146205
NM_000382.3(ALDH3A2):c.681-1G>A	SNV Germline	Chr17:19657744	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398706693	rs_1265969343	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	CA625105096	rs_1400349287	2 SubmittersRCV003333599 RCV003561312
NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)	SNV Germline	Chr17:19671852	Conflicting classifications of pathogenicity	ALDH3A2-related disorder not specified Sjögren-Larsson syndrome	Criteria Provided Conflicting Classifications	CA288556585	rs_67939114	3 SubmittersRCV003420747 RCV003491377 RCV005433381
NM_000382.3(ALDH3A2):c.1107+1G>T	SNV Germline	Chr17:19663500	Likely pathogenic	Condition: not provided Sjögren-Larsson syndrome	Criteria Provided Multiple Submitters No Conflicts	CA398710294	rs_1456560062	2 SubmittersRCV003839883 RCV005015022
NM_000382.3(ALDH3A2):c.1350G>A (p.Trp450Ter)	SNV Germline	Chr17:19671863	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398710895	rs_2544405809	1 SubmittersRCV003989438
NM_000382.3(ALDH3A2):c.385+1G>C	SNV Germline	Chr17:19651779	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter	CA398702699	rs_2544357981	1 SubmittersRCV004527524
NM_000382.3(ALDH3A2):c.551C>G (p.Thr184Arg)	SNV Germline	Chr17:19656445	Pathogenic/Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_72547562	3 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
NM_000382.3(ALDH3A2):c.25C>T (p.Arg9Ter)	SNV Germline	Chr17:19648996	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005018082
NM_000382.3(ALDH3A2):c.1320T>A (p.Tyr440Ter)	SNV Germline	Chr17:19671833	Pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005229605
NM_000382.3(ALDH3A2):c.1139G>A (p.Ser380Asn)	SNV Germline	Chr17:19664979	Likely pathogenic	Sjögren-Larsson syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005438284

NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)

SNV
Germline

Chr17:19656535

Pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA115115

rs_72547564

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 SubmittersRCV000001707 RCV000255529

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 SubmittersRCV000001710 RCV000414702

NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)

SNV
Germline

Chr17:19664997

Pathogenic

Sjögren-Larsson syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115120

rs_72547575

6 SubmittersRCV000001711 RCV000793431

NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr17:19648999

Pathogenic

Sjögren-Larsson syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA199076

rs_72547554

3 SubmittersRCV000169182 RCV001041547

NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)

SNV
Germline

Chr17:19656445

Pathogenic

Sjögren-Larsson syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA199055

rs_72547562

8 SubmittersRCV000169091 RCV000427449

NM_000382.3(ALDH3A2):c.798+5G>A

SNV
Germline

Chr17:19657867

Pathogenic

Sjögren-Larsson syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA199114

rs_786204677

3 SubmittersRCV000169484 RCV002516533

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

2 SubmittersRCV000171251 RCV004527366

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 SubmittersRCV000180151 RCV001833094 RCV003967442

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 SubmittersRCV000255332 RCV000316840

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 SubmittersRCV000255515 RCV000663418

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

rs_886052689

2 SubmittersRCV000294875 RCV003660781

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 SubmittersRCV000333430 RCV000944498

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 SubmittersRCV000259431 RCV000940500

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 SubmittersRCV000386897 RCV001500270

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 SubmittersRCV000289136 RCV000939766

NM_000382.3(ALDH3A2):c.1444-4C>T

SNV
Germline

Chr17:19675554

Conflicting classifications of pathogenicity

Condition: not provided
Sjögren-Larsson syndrome

Criteria Provided
Conflicting Classifications

CA8443128

rs_192458322

2 SubmittersRCV002522924 RCV000390932

NM_000382.3(ALDH3A2):c.153+2T>G

SNV
Unknown

Chr17:19649126

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA16041806

rs_1057516863

1 SubmittersRCV000411762

NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)

SNV
Unknown

Chr17:19651627

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA16041808

rs_759874793

1 SubmittersRCV000410260

NM_000382.3(ALDH3A2):c.798+1G>A

SNV
Unknown

Chr17:19657863

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA16041812

rs_1057517278

1 SubmittersRCV000409063

NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)

SNV
Germline

Chr17:19663486

Pathogenic

Sjögren-Larsson syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041815

rs_72547573

3 SubmittersRCV000410901 RCV001216194

NM_000382.3(ALDH3A2):c.1108-2A>G

SNV
Unknown

Chr17:19664946

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA16041816

rs_1057516742

1 SubmittersRCV000411031

NM_000382.3(ALDH3A2):c.1108-1G>C

SNV
Germline

Chr17:19664947

Pathogenic

Condition: not provided
Sjögren-Larsson syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041817

rs_1036733598

6 SubmittersRCV001861367 RCV000411369

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 SubmittersRCV000410648 RCV001861368

NM_000382.3(ALDH3A2):c.1444-1G>T

SNV
Unknown

Chr17:19675557

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA16041820

rs_1057517004

1 SubmittersRCV000410461

NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter)

SNV
Germline

Chr17:19649074

Pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA398700781

rs_2544349280

1 SubmittersRCV000504626

NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu)

SNV
Germline

Chr17:19656525

Pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA398706571

rs_2544372398

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 SubmittersRCV000588256 RCV001127573 RCV003915682

NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)

SNV
Unknown

Chr17:19661236

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398709342

rs_2544383909

1 SubmittersRCV000625950

NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)

SNV
Germline

Chr17:19648973

Pathogenic

Sjögren-Larsson syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA288537374

rs_61737991

2 SubmittersRCV000667969 RCV003708546

NM_000382.3(ALDH3A2):c.471+2T>G

SNV
Unknown

Chr17:19652634

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA398703518

rs_2544360565

1 SubmittersRCV000670542

NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)

SNV
Unknown

Chr17:19671790

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA288556497

rs_72547577

1 SubmittersRCV000668072

NM_000382.3(ALDH3A2):c.472-2A>G

SNV
Germline

Chr17:19656364

Pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398705818

rs_2544371353

2 SubmittersRCV000670121

NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)

SNV
Germline

Chr17:19657746

Pathogenic

Sjögren-Larsson syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA288545096

rs_72547566

8 SubmittersRCV000672596 RCV001383429

NM_000382.3(ALDH3A2):c.1108-1G>A

SNV
Unknown

Chr17:19664947

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA398710302

rs_1036733598

1 SubmittersRCV000674269

NM_000382.3(ALDH3A2):c.1207+1G>A

SNV
Unknown

Chr17:19665048

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA398710520

rs_2544393489

1 SubmittersRCV000673553

NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)

SNV
Unknown

Chr17:19648972

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA398700322

rs_2544348561

1 SubmittersRCV000666856

NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr17:19648972

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398700324

rs_2544348561

2 SubmittersRCV000666849

NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter)

SNV
Germline

Chr17:19649044

Pathogenic

Sjögren-Larsson syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA398700669

rs_2152325575

2 SubmittersRCV000670068 RCV001861786

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

CA8443080

rs_199548781

4 SubmittersRCV000671279 RCV002222597

NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)

SNV
Unknown

Chr17:19648974

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA398700330

rs_2084774156

1 SubmittersRCV000666846

NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)

SNV
Germline

Chr17:19648974

Pathogenic

Sjögren-Larsson syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA398700332

rs_2084774156

2 SubmittersRCV000668039 RCV003574796

NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)

SNV
Unknown

Chr17:19671880

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA398710936

rs_2544405872

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

CA398710803

rs_1567607328

3 SubmittersRCV000757940 RCV000760414

NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)

SNV
Unknown

Chr17:19661165

Pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398709157

rs_2544383508

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

CA288545138

rs_72547567

3 SubmittersRCV000778493 RCV001377682

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

CA288545098

rs_866392702

3 SubmittersRCV000809699 RCV001334407

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

CA8442721

rs_147190807

3 SubmittersRCV000902983 RCV001127575

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

CA8443072

rs_150927045

4 SubmittersRCV000908787 RCV001125562

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

CA8442862

rs_140649688

4 SubmittersRCV000934045 RCV001123461

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

CA8442984

rs_147200808

5 SubmittersRCV000944501 RCV001124550 RCV002545977

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

CA398707097

rs_1555533754

4 SubmittersRCV000991399 RCV002264991

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

CA398700569

rs_1447023449

2 SubmittersRCV001007560 RCV001862748

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

CA398702710

rs_2084819840

2 SubmittersRCV001047912 RCV002265933

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

CA8442713

rs_749679693

2 SubmittersRCV001127574 RCV001464468

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

CA8442768

rs_773093556

2 SubmittersRCV001127577 RCV001501082

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

CA8442981

rs_143717984

4 SubmittersRCV001124549 RCV001485162 RCV003163282

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

CA8443054

rs_373251784

3 SubmittersRCV001124551 RCV001431042

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

CA288556589

rs_1054840414

2 SubmittersRCV001124552 RCV001401278

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

CA8443070

rs_181889379

2 SubmittersRCV001125561 RCV002070047

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

CA498620059

rs_1320588121

2 SubmittersRCV001125563 RCV001456240

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

CA8442924

rs_746519259

2 SubmittersRCV001123462 RCV001453504

NM_000382.3(ALDH3A2):c.471+1G>C

SNV
Germline

Chr17:19652633

Pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA8442811

rs_769821628

1 SubmittersRCV001255500

NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)

SNV
Unknown

Chr17:19652625

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398703466

rs_2544360487

1 SubmittersRCV001263811

NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)

SNV
Unknown

Chr17:19656465

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398706445

rs_377139218

1 SubmittersRCV001263812

NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)

SNV
Unknown

Chr17:19656546

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398706622

rs_2544372582

1 SubmittersRCV001263813

NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)

SNV
Unknown

Chr17:19657824

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398706961

rs_2544376116

1 SubmittersRCV001263814

NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)

SNV
Unknown

Chr17:19657848

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398707148

rs_2544376202

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

CA398708943

rs_1457784654

2 SubmittersRCV001263979 RCV003770372

NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)

SNV
Unknown

Chr17:19663392

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398709969

rs_112346474

1 SubmittersRCV001263980

NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)

SNV
Unknown

Chr17:19664981

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398710379

rs_2544393217

1 SubmittersRCV001263981

NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)

SNV
Germline

Chr17:19648981

Likely pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA398700374

rs_770427442

1 SubmittersRCV001291415

NM_000382.3(ALDH3A2):c.681-2A>G

SNV
Germline

Chr17:19657743

Likely pathogenic

Condition: not provided
Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398706691

rs_2152328724

2 SubmittersRCV001383428 RCV005614537

NM_000382.3(ALDH3A2):c.1412T>C (p.Phe471Ser)

SNV
Germline

Chr17:19671925

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Sjögren-Larsson syndrome

Criteria Provided
Conflicting Classifications

CA8443073

rs_141112437

5 SubmittersRCV001401476 RCV002552731 RCV005361599

NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)

SNV
Germline

Chr17:19663395

Pathogenic

Sjögren-Larsson syndrome

No Assertion Criteria Provided

CA398709977

rs_2544389390

1 SubmittersRCV001528111

NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter)

SNV
Germline

Chr17:19657840

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA8442906

rs_369385931

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

CA8443057

rs_768290318

4 SubmittersRCV001958936 RCV003230721

NM_000382.3(ALDH3A2):c.913G>T (p.Glu305Ter)

SNV
Unknown

Chr17:19661241

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398709351

rs_751079690

1 SubmittersRCV002306488

NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter)

SNV
Unknown

Chr17:19657787

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398706791

rs_2544375892

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

CA398706684

rs_2544372788

2 SubmittersRCV002510391 RCV004721080

NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu)

SNV
Germline

Chr17:19651734

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA288539851

rs_72547559

1 SubmittersRCV003146205

NM_000382.3(ALDH3A2):c.681-1G>A

SNV
Germline

Chr17:19657744

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398706693

rs_1265969343

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

CA625105096

rs_1400349287

2 SubmittersRCV003333599 RCV003561312

NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)

SNV
Germline

Chr17:19671852

Conflicting classifications of pathogenicity

ALDH3A2-related disorder
not specified
Sjögren-Larsson syndrome

Criteria Provided
Conflicting Classifications

CA288556585

rs_67939114

3 SubmittersRCV003420747 RCV003491377 RCV005433381

NM_000382.3(ALDH3A2):c.1107+1G>T

SNV
Germline

Chr17:19663500

Likely pathogenic

Condition: not provided
Sjögren-Larsson syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA398710294

rs_1456560062

2 SubmittersRCV003839883 RCV005015022

NM_000382.3(ALDH3A2):c.1350G>A (p.Trp450Ter)

SNV
Germline

Chr17:19671863

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398710895

rs_2544405809

1 SubmittersRCV003989438

NM_000382.3(ALDH3A2):c.385+1G>C

SNV
Germline

Chr17:19651779

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

CA398702699

rs_2544357981

1 SubmittersRCV004527524

NM_000382.3(ALDH3A2):c.551C>G (p.Thr184Arg)

SNV
Germline

Chr17:19656445

Pathogenic/Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_72547562

3 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

NM_000382.3(ALDH3A2):c.25C>T (p.Arg9Ter)

SNV
Germline

Chr17:19648996

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005018082

NM_000382.3(ALDH3A2):c.1320T>A (p.Tyr440Ter)

SNV
Germline

Chr17:19671833

Pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005229605

NM_000382.3(ALDH3A2):c.1139G>A (p.Ser380Asn)

SNV
Germline

Chr17:19664979

Likely pathogenic

Sjögren-Larsson syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005438284