Aldh3a2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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647 records found for search term Aldh3a2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11625826	CV327659	single nucleotide variant	NM_000382.3(ALDH3A2):c.-3G>A	Sjögren-Larsson syndrome [RCV000403653]	uncertain significance	17	19648969	19648969	Human	1	name
11659471	CV345177	single nucleotide variant	NM_000382.3(ALDH3A2):c.-97G>A	Sjögren-Larsson syndrome [RCV000358379]	uncertain significance	17	19648875	19648875	Human	1	name
11630151	CV345180	single nucleotide variant	NM_000382.3(ALDH3A2):c.*36G>A	Sjögren-Larsson syndrome [RCV000341876]\|not provided [RCV001785564]	benign\|likely benign\|uncertain significance	17	19675608	19675608	Human	1	name
28903033	CV876997	single nucleotide variant	NM_000382.3(ALDH3A2):c.-67C>T	Sjögren-Larsson syndrome [RCV001125460]	uncertain significance	17	19648905	19648905	Human	1	name
28907414	CV876998	single nucleotide variant	NM_000382.3(ALDH3A2):c.-11A>G	Sjögren-Larsson syndrome [RCV001127572]\|not specified [RCV005236626]	uncertain significance	17	19648961	19648961	Human	1	name
11626111	CV327649	single nucleotide variant	NM_000382.3(ALDH3A2):c.-154G>A	Sjögren-Larsson syndrome [RCV000407238]\|not provided [RCV004709571]	benign\|likely benign	17	19648818	19648818	Human	1	name
11618091	CV327655	single nucleotide variant	NM_000382.3(ALDH3A2):c.-149C>G	Sjögren-Larsson syndrome [RCV000310646]	likely benign\|uncertain significance	17	19648823	19648823	Human	1	name
11647118	CV327678	deletion	NM_000382.3(ALDH3A2):c.*669del	Sjögren-Larsson syndrome [RCV000274826]	uncertain significance	17	19676239	19676239	Human	1	name
11660799	CV327682	single nucleotide variant	NM_000382.3(ALDH3A2):c.*700G>T	Sjögren-Larsson syndrome [RCV000370514]	uncertain significance	17	19676272	19676272	Human	1	name
11624786	CV337468	single nucleotide variant	NM_000382.3(ALDH3A2):c.*292G>T	Sjögren-Larsson syndrome [RCV000390935]	likely benign\|uncertain significance	17	19675864	19675864	Human	1	name
11620060	CV337470	single nucleotide variant	NM_000382.3(ALDH3A2):c.*694C>T	Sjögren-Larsson syndrome [RCV000332158]	benign\|likely benign	17	19676266	19676266	Human	1	name
11664136	CV343726	single nucleotide variant	NM_000382.3(ALDH3A2):c.*378G>A	Sjögren-Larsson syndrome [RCV000402886]	uncertain significance	17	19675950	19675950	Human	1	name
11660462	CV343728	single nucleotide variant	NM_000382.3(ALDH3A2):c.*636T>C	Sjögren-Larsson syndrome [RCV000367087]	uncertain significance	17	19676208	19676208	Human	1	name
11613488	CV343732	single nucleotide variant	NM_000382.3(ALDH3A2):c.*973T>C	Sjögren-Larsson syndrome [RCV000268925]\|not provided [RCV004709572]	benign\|likely benign	17	19676545	19676545	Human	1	name
11651173	CV345183	single nucleotide variant	NM_000382.3(ALDH3A2):c.*330T>C	Sjögren-Larsson syndrome [RCV000297513]	uncertain significance	17	19675902	19675902	Human	1	name
11635019	CV345186	single nucleotide variant	NM_000382.3(ALDH3A2):c.*439G>C	Sjögren-Larsson syndrome [RCV000300743]	uncertain significance	17	19676011	19676011	Human	1	name
28903028	CV876996	single nucleotide variant	NM_000382.3(ALDH3A2):c.-215C>T	Sjögren-Larsson syndrome [RCV001125459]	uncertain significance	17	19648757	19648757	Human	1	name
28907542	CV877008	single nucleotide variant	NM_000382.3(ALDH3A2):c.*171A>G	Sjögren-Larsson syndrome [RCV001127654]	uncertain significance	17	19675743	19675743	Human	1	name
28907544	CV877009	single nucleotide variant	NM_000382.3(ALDH3A2):c.*630G>A	Sjögren-Larsson syndrome [RCV001127655]	uncertain significance	17	19676202	19676202	Human	1	name
28898378	CV877010	single nucleotide variant	NM_000382.3(ALDH3A2):c.*699A>G	Sjögren-Larsson syndrome [RCV001123558]	uncertain significance	17	19676271	19676271	Human	1	name
28898383	CV877011	single nucleotide variant	NM_000382.3(ALDH3A2):c.*730T>A	Sjögren-Larsson syndrome [RCV001123559]	uncertain significance	17	19676302	19676302	Human	1	name
28898386	CV877012	single nucleotide variant	NM_000382.3(ALDH3A2):c.*740G>C	Sjögren-Larsson syndrome [RCV001123560]	uncertain significance	17	19676312	19676312	Human	1	name
28898389	CV877013	single nucleotide variant	NM_000382.3(ALDH3A2):c.*847C>T	Sjögren-Larsson syndrome [RCV001123561]	likely benign	17	19676419	19676419	Human	1	name
127249541	CV1056383	single nucleotide variant	NM_000382.3(ALDH3A2):c.386-1G>A	not provided [RCV001378174]	likely pathogenic	17	19652546	19652546	Human		name
127261999	CV1063870	deletion	NM_000382.3(ALDH3A2):c.680+1del	not provided [RCV001380618]	pathogenic	17	19656574	19656574	Human		name
127240305	CV1063871	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-2A>G	not provided [RCV001383428]	pathogenic\|likely pathogenic	17	19657743	19657743	Human		name
127242101	CV1082785	single nucleotide variant	NM_000382.3(ALDH3A2):c.154-7A>G	not provided [RCV001398126]	likely benign	17	19651540	19651540	Human		name
127256564	CV1082786	single nucleotide variant	NM_000382.3(ALDH3A2):c.154-6T>A	not provided [RCV001401275]	likely benign	17	19651541	19651541	Human		name
127246366	CV1082787	single nucleotide variant	NM_000382.3(ALDH3A2):c.154-5A>G	not provided [RCV001416731]	likely benign	17	19651542	19651542	Human		name
127282323	CV1082794	single nucleotide variant	NM_000382.3(ALDH3A2):c.680+9G>C	not provided [RCV001411060]	likely benign	17	19656583	19656583	Human		name
127336352	CV1126016	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-6C>T	not provided [RCV001474900]	likely benign	17	19657739	19657739	Human		name
127294176	CV1126019	single nucleotide variant	NM_000382.3(ALDH3A2):c.941-8C>A	not provided [RCV001452184]	likely benign	17	19663325	19663325	Human		name
127320190	CV1146907	single nucleotide variant	NM_000382.3(ALDH3A2):c.386-7T>C	not provided [RCV001484091]	likely benign	17	19652540	19652540	Human		name
127311402	CV1146912	single nucleotide variant	NM_000382.3(ALDH3A2):c.680+7C>G	not provided [RCV001481441]	likely benign	17	19656581	19656581	Human		name
127290227	CV1146913	single nucleotide variant	NM_000382.3(ALDH3A2):c.680+9G>A	not provided [RCV001495915]	likely benign	17	19656583	19656583	Human		name
127337996	CV1146914	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-8C>T	not provided [RCV001493358]	likely benign	17	19657737	19657737	Human		name
151777514	CV1436678	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+3A>G	not provided [RCV001971768]	uncertain significance	17	19649127	19649127	Human		name
152150688	CV1605322	single nucleotide variant	NM_000382.3(ALDH3A2):c.941-7T>C	not provided [RCV002102181]	likely benign	17	19663326	19663326	Human		name
152150783	CV1661654	single nucleotide variant	NM_000382.3(ALDH3A2):c.798+8T>C	not provided [RCV002179414]	likely benign	17	19657870	19657870	Human		name
10041614	CV186956	deletion	NM_000382.3(ALDH3A2):c.471+1del	Sjögren-Larsson syndrome [RCV000169590]\|not provided [RCV001034892]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	19652632	19652632	Human	1	name
10041567	CV186958	single nucleotide variant	NM_000382.3(ALDH3A2):c.798+5G>A	Sjögren-Larsson syndrome [RCV000169484]\|not provided [RCV002516533]	pathogenic\|likely pathogenic	17	19657867	19657867	Human	1	name
156352873	CV1870338	single nucleotide variant	NM_000382.3(ALDH3A2):c.386-5T>C	not provided [RCV003065001]	likely benign	17	19652542	19652542	Human		name
156366710	CV1928976	single nucleotide variant	NM_000382.3(ALDH3A2):c.471+6A>T	not provided [RCV002633070]	uncertain significance	17	19652638	19652638	Human		name
156055313	CV1935104	single nucleotide variant	NM_000382.3(ALDH3A2):c.680+1G>A	Sjögren-Larsson syndrome [RCV002510391]\|not provided [RCV004721080]	pathogenic\|likely pathogenic	17	19656575	19656575	Human	1	name
156437747	CV1947762	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-3C>T	not provided [RCV003107289]	uncertain significance	17	19657742	19657742	Human		name
156084496	CV2023761	single nucleotide variant	NM_000382.3(ALDH3A2):c.472-9T>C	not provided [RCV002760735]	likely benign	17	19656357	19656357	Human		name
156137425	CV2097421	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-7C>T	not provided [RCV002890173]	likely benign	17	19657738	19657738	Human		name
156236485	CV2105114	single nucleotide variant	NM_000382.3(ALDH3A2):c.471+9T>A	not provided [RCV002919137]	likely benign	17	19652641	19652641	Human		name
156034524	CV2132812	single nucleotide variant	NM_000382.3(ALDH3A2):c.385+6G>A	not provided [RCV002999280]	uncertain significance	17	19651784	19651784	Human		name
155919021	CV2152693	single nucleotide variant	NM_000382.3(ALDH3A2):c.472-8T>C	not provided [RCV002991807]	likely benign	17	19656358	19656358	Human		name
156231356	CV2184015	single nucleotide variant	NM_000382.3(ALDH3A2):c.385+9C>G	not provided [RCV003043097]	likely benign	17	19651787	19651787	Human		name
243056451	CV2418681	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-1G>A	Sjögren-Larsson syndrome [RCV003155647]	likely pathogenic	17	19657744	19657744	Human	1	name
11559801	CV260159	single nucleotide variant	NM_000382.3(ALDH3A2):c.386-2A>T	not provided [RCV000255004]	pathogenic	17	19652545	19652545	Human		name
402514782	CV2855623	single nucleotide variant	NM_000382.3(ALDH3A2):c.798+1G>T	not provided [RCV003547313]	likely pathogenic	17	19657863	19657863	Human		name
402519526	CV2870851	single nucleotide variant	NM_000382.3(ALDH3A2):c.941-8C>T	not provided [RCV003547562]	likely benign	17	19663325	19663325	Human		name
402484971	CV2922334	single nucleotide variant	NM_000382.3(ALDH3A2):c.940+8A>G	not provided [RCV003572378]	likely benign	17	19661276	19661276	Human		name
405190744	CV2987968	deletion	NM_000382.3(ALDH3A2):c.681-5del	not provided [RCV003706372]	benign	17	19657737	19657737	Human		name
402486295	CV2999007	deletion	NM_000382.3(ALDH3A2):c.681-9del	not provided [RCV003687087]	benign	17	19657733	19657733	Human		name
405096086	CV3022842	single nucleotide variant	NM_000382.3(ALDH3A2):c.680+7C>T	not provided [RCV003700000]	likely benign	17	19656581	19656581	Human		name
11624213	CV327683	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1256C>G	Sjögren-Larsson syndrome [RCV000383037]	benign\|likely benign	17	19676828	19676828	Human	1	name
11658604	CV327702	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1971A>G	Sjögren-Larsson syndrome [RCV000350524]	uncertain significance	17	19677543	19677543	Human	1	name
11619494	CV337471	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1030G>T	Sjögren-Larsson syndrome [RCV000326296]	uncertain significance	17	19676602	19676602	Human	1	name
11619044	CV337473	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1452C>G	Sjögren-Larsson syndrome [RCV000320316]	uncertain significance	17	19677024	19677024	Human	1	name
11663862	CV337476	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1788C>G	Sjögren-Larsson syndrome [RCV000400328]	uncertain significance	17	19677360	19677360	Human	1	name
11653581	CV337480	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1938G>A	Sjögren-Larsson syndrome [RCV000312047]	uncertain significance	17	19677510	19677510	Human	1	name
405854633	CV3392504	single nucleotide variant	NM_000382.3(ALDH3A2):c.385+1G>C	Sjögren-Larsson syndrome [RCV004527524]	likely pathogenic	17	19651779	19651779	Human	1	name
11634906	CV343733	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1600C>G	Sjögren-Larsson syndrome [RCV000286116]	uncertain significance	17	19677172	19677172	Human	1	name
11614800	CV343734	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1802A>G	Sjögren-Larsson syndrome [RCV000280142]	benign\|uncertain significance	17	19677374	19677374	Human	1	name
11624978	CV343738	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1900A>G	Sjögren-Larsson syndrome [RCV000393460]	uncertain significance	17	19677472	19677472	Human	1	name
11630844	CV345178	single nucleotide variant	NM_000382.3(ALDH3A2):c.386-6A>G	Sjögren-Larsson syndrome [RCV000361094]\|not provided [RCV000676611]	benign\|likely benign	17	19652541	19652541	Human	1	name
11627895	CV345201	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1258A>C	Sjögren-Larsson syndrome [RCV000291010]	uncertain significance	17	19676830	19676830	Human	1	name
11631409	CV345204	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1462G>A	Sjögren-Larsson syndrome [RCV000377323]\|not provided [RCV004709573]	benign\|likely benign	17	19677034	19677034	Human	1	name
11630179	CV345207	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1609A>G	Sjögren-Larsson syndrome [RCV000343374]\|not provided [RCV004710806]	benign	17	19677181	19677181	Human	1	name
12740348	CV358395	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+2T>G	Sjögren-Larsson syndrome [RCV000411762]	likely pathogenic	17	19649126	19649126	Human	1	name
12739183	CV358401	single nucleotide variant	NM_000382.3(ALDH3A2):c.798+1G>A	Sjögren-Larsson syndrome [RCV000409063]	likely pathogenic	17	19657863	19657863	Human	1	name
12740094	CV358403	deletion	NM_000382.3(ALDH3A2):c.798+1del	Sjögren-Larsson syndrome [RCV000411163]\|not provided [RCV001231409]	pathogenic	17	19657862	19657862	Human	1	name
13519792	CV487927	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+8C>A	not provided [RCV000586563]\|not specified [RCV005407770]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	19649132	19649132	Human		name
13784097	CV547995	single nucleotide variant	NM_000382.3(ALDH3A2):c.471+2T>G	Sjögren-Larsson syndrome [RCV000670542]	likely pathogenic	17	19652634	19652634	Human	1	name
13783522	CV548026	single nucleotide variant	NM_000382.3(ALDH3A2):c.472-2A>G	Sjögren-Larsson syndrome [RCV000670121]	pathogenic\|likely pathogenic	17	19656364	19656364	Human	1	name
15185788	CV776611	single nucleotide variant	NM_000382.3(ALDH3A2):c.941-9T>C	not provided [RCV000931160]	likely benign	17	19663324	19663324	Human		name
15145381	CV788115	single nucleotide variant	NM_000382.3(ALDH3A2):c.154-5A>T	not provided [RCV000983653]	likely benign	17	19651542	19651542	Human		name
26920549	CV852695	single nucleotide variant	NM_000382.3(ALDH3A2):c.385+2T>C	Sjögren-Larsson syndrome [RCV002265933]\|not provided [RCV001047912]	pathogenic	17	19651780	19651780	Human	1	name
28898393	CV877014	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1082G>A	Sjögren-Larsson syndrome [RCV001123562]	uncertain significance	17	19676654	19676654	Human	1	name
28901104	CV877015	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1184A>G	Sjögren-Larsson syndrome [RCV001124635]	uncertain significance	17	19676756	19676756	Human	1	name
28901107	CV877016	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1314T>C	Sjögren-Larsson syndrome [RCV001124636]	uncertain significance	17	19676886	19676886	Human	1	name
28901111	CV877017	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1362G>A	Sjögren-Larsson syndrome [RCV001124637]	benign	17	19676934	19676934	Human	1	name
28903427	CV877018	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1628A>G	Sjögren-Larsson syndrome [RCV001125647]	uncertain significance	17	19677200	19677200	Human	1	name
28903433	CV877019	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1656C>T	Sjögren-Larsson syndrome [RCV001125648]	uncertain significance	17	19677228	19677228	Human	1	name
28903436	CV877020	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1721C>T	Sjögren-Larsson syndrome [RCV001125649]	uncertain significance	17	19677293	19677293	Human	1	name
28903439	CV877021	single nucleotide variant	NM_000382.3(ALDH3A2):c.*1930C>T	Sjögren-Larsson syndrome [RCV001125650]	uncertain significance	17	19677502	19677502	Human	1	name
28898139	CV880487	single nucleotide variant	NM_000382.3(ALDH3A2):c.799-6A>G	Sjögren-Larsson syndrome [RCV001123462]\|not provided [RCV001453504]	likely benign\|uncertain significance	17	19661121	19661121	Human	1	name
39457130	CV965860	single nucleotide variant	NM_000382.3(ALDH3A2):c.471+1G>C	Sjögren-Larsson syndrome [RCV001255500]	pathogenic	17	19652633	19652633	Human	1	name
127242476	CV1082795	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-15A>T	not provided [RCV001398193]	likely benign	17	19657730	19657730	Human		name
127276209	CV1104599	single nucleotide variant	NM_000382.3(ALDH3A2):c.1207+9T>G	not provided [RCV001443712]	likely benign	17	19665056	19665056	Human		name
127248342	CV1104603	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+8C>T	not provided [RCV001424909]	likely benign	17	19671964	19671964	Human		name
127294768	CV1126023	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+9C>G	not provided [RCV001452313]	likely benign	17	19671965	19671965	Human		name
127297390	CV1146909	single nucleotide variant	NM_000382.3(ALDH3A2):c.471+10T>G	not provided [RCV001497763]	likely benign	17	19652642	19652642	Human		name
150338697	CV1174467	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+39C>T	Sjögren-Larsson syndrome [RCV001542813]\|not provided [RCV001712989]	benign	17	19649163	19649163	Human	1	name
150338698	CV1174468	single nucleotide variant	NM_000382.3(ALDH3A2):c.471+31T>C	Sjögren-Larsson syndrome [RCV001542814]\|not provided [RCV001712990]	benign	17	19652663	19652663	Human	1	name
150338699	CV1174469	single nucleotide variant	NM_000382.3(ALDH3A2):c.472-56G>A	Sjögren-Larsson syndrome [RCV001542815]\|not provided [RCV001692467]	benign	17	19656310	19656310	Human	1	name
150338700	CV1174470	single nucleotide variant	NM_000382.3(ALDH3A2):c.940+53C>G	Sjögren-Larsson syndrome [RCV001542816]\|not provided [RCV001673154]	benign\|likely benign	17	19661321	19661321	Human	1	name
152165378	CV1536490	single nucleotide variant	NM_000382.3(ALDH3A2):c.1207+7C>T	not provided [RCV002160440]	likely benign	17	19665054	19665054	Human		name
152074088	CV1556780	duplication	NM_000382.3(ALDH3A2):c.680+16dup	not provided [RCV002111856]	likely benign	17	19656589	19656590	Human		name
152103557	CV1574638	single nucleotide variant	NM_000382.3(ALDH3A2):c.940+16C>G	not provided [RCV002095845]	likely benign	17	19661284	19661284	Human		name
152085773	CV1617382	single nucleotide variant	NM_000382.3(ALDH3A2):c.471+15A>T	not provided [RCV002076962]	likely benign	17	19652647	19652647	Human		name
152070353	CV1628365	deletion	NM_000382.3(ALDH3A2):c.471+10del	not provided [RCV002169209]	likely benign	17	19652640	19652640	Human		name
152062277	CV1638534	single nucleotide variant	NM_000382.3(ALDH3A2):c.1444-4C>G	not provided [RCV002073818]	likely benign	17	19675554	19675554	Human		name
152167715	CV1644805	single nucleotide variant	NM_000382.3(ALDH3A2):c.1207+8T>A	not provided [RCV002142227]	likely benign	17	19665055	19665055	Human		name
156332527	CV1895403	single nucleotide variant	NM_000382.3(ALDH3A2):c.680+13C>G	not provided [RCV003089886]	likely benign	17	19656587	19656587	Human		name
156300189	CV1933434	single nucleotide variant	NM_000382.3(ALDH3A2):c.941-19T>G	not provided [RCV002629208]	likely benign	17	19663314	19663314	Human		name
10053165	CV195884	single nucleotide variant	NM_000382.3(ALDH3A2):c.1108-3C>T	ALDH3A2-related disorder [RCV003967442]\|Sjögren-Larsson syndrome [RCV001833094]\|not provided [RCV000180151]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	19664945	19664945	Human	1	name , trait , alternate_id
155947587	CV1996440	single nucleotide variant	NM_000382.3(ALDH3A2):c.385+10C>T	not provided [RCV002685833]	likely benign	17	19651788	19651788	Human		name
156023015	CV2077810	single nucleotide variant	NM_000382.3(ALDH3A2):c.1444-8C>T	not provided [RCV002866699]	likely benign	17	19675550	19675550	Human		name
156270357	CV2168010	deletion	NM_000382.3(ALDH3A2):c.1108-5del	not provided [RCV003026965]	likely benign	17	19664942	19664942	Human		name
156316359	CV2169172	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-10T>C	not provided [RCV003028885]	likely benign	17	19657735	19657735	Human		name
401875965	CV2750156	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-14T>A	Sjögren-Larsson syndrome [RCV003333599]\|not provided [RCV003561312]	likely pathogenic	17	19657731	19657731	Human	1	name
405085095	CV2865891	single nucleotide variant	NM_000382.3(ALDH3A2):c.940+18T>C	not provided [RCV003549511]	likely benign	17	19661286	19661286	Human		name
405194629	CV2872347	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+10C>T	not provided [RCV003550638]	likely benign	17	19649134	19649134	Human		name
405153866	CV2894138	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+16G>A	not provided [RCV003561912]	likely benign	17	19649140	19649140	Human		name
405166663	CV2902369	single nucleotide variant	NM_000382.3(ALDH3A2):c.680+13C>T	not provided [RCV003562798]	likely benign	17	19656587	19656587	Human		name
405111836	CV2903324	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+17C>T	not provided [RCV003557993]	likely benign	17	19649141	19649141	Human		name
405209895	CV2920702	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+15G>A	not provided [RCV003567015]	likely benign	17	19649139	19649139	Human		name
405063035	CV2927170	single nucleotide variant	NM_000382.3(ALDH3A2):c.680+11C>T	not provided [RCV003580614]	likely benign	17	19656585	19656585	Human		name
405183249	CV2952739	single nucleotide variant	NM_000382.3(ALDH3A2):c.154-14T>C	not provided [RCV003676426]	likely benign	17	19651533	19651533	Human		name
405115124	CV2956849	single nucleotide variant	NM_000382.3(ALDH3A2):c.386-14T>G	not provided [RCV003666749]	likely benign	17	19652533	19652533	Human		name
402480758	CV3001004	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+8C>G	not provided [RCV003686581]	likely benign	17	19671964	19671964	Human		name
402494016	CV3004830	single nucleotide variant	NM_000382.3(ALDH3A2):c.471+19A>G	not provided [RCV003687818]	likely benign	17	19652651	19652651	Human		name
405204377	CV3033485	single nucleotide variant	NM_000382.3(ALDH3A2):c.471+14G>T	not provided [RCV003707811]	likely benign	17	19652646	19652646	Human		name
405178958	CV3056579	single nucleotide variant	NM_000382.3(ALDH3A2):c.386-13T>C	not provided [RCV003728598]	likely benign	17	19652534	19652534	Human		name
405160001	CV3061794	single nucleotide variant	NM_000382.3(ALDH3A2):c.472-20T>C	not provided [RCV003727029]	likely benign	17	19656346	19656346	Human		name
405208304	CV3065389	single nucleotide variant	NM_000382.3(ALDH3A2):c.940+11T>C	not provided [RCV003731631]	likely benign	17	19661279	19661279	Human		name
405231715	CV3070614	single nucleotide variant	NM_000382.3(ALDH3A2):c.799-16C>A	not provided [RCV003734956]	likely benign	17	19661111	19661111	Human		name
405025227	CV3073258	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+20G>A	not provided [RCV003738731]	likely benign	17	19649144	19649144	Human		name
405236700	CV3076748	single nucleotide variant	NM_000382.3(ALDH3A2):c.798+16A>G	not provided [RCV003736024]	likely benign	17	19657878	19657878	Human		name
405102777	CV3119525	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+11G>A	not provided [RCV003811787]	likely benign	17	19649135	19649135	Human		name
405173750	CV3122960	single nucleotide variant	NM_000382.3(ALDH3A2):c.680+12T>C	not provided [RCV003819358]	likely benign	17	19656586	19656586	Human		name
405086042	CV3137760	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-13G>A	not provided [RCV003834469]	likely benign	17	19657732	19657732	Human		name
405148563	CV3141961	single nucleotide variant	NM_000382.3(ALDH3A2):c.1107+1G>T	Sjögren-Larsson syndrome [RCV005015022]\|not provided [RCV003839883]	likely pathogenic	17	19663500	19663500	Human	1	name
405204439	CV3144103	single nucleotide variant	NM_000382.3(ALDH3A2):c.680+12T>G	not provided [RCV003844893]	likely benign	17	19656586	19656586	Human		name
405180823	CV3147403	single nucleotide variant	NM_000382.3(ALDH3A2):c.799-19C>T	not provided [RCV003842305]	likely benign	17	19661108	19661108	Human		name
405178422	CV3148699	single nucleotide variant	NM_000382.3(ALDH3A2):c.472-19G>T	not provided [RCV003858477]	likely benign	17	19656347	19656347	Human		name
405171260	CV3149980	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-19C>A	not provided [RCV003841451]	likely benign	17	19657726	19657726	Human		name
405157958	CV3152624	deletion	NM_000382.3(ALDH3A2):c.798+15del	not provided [RCV003840551]	likely benign	17	19657877	19657877	Human		name
405165610	CV3160516	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+12T>C	not provided [RCV003857396]	likely benign	17	19649136	19649136	Human		name
402493605	CV3182589	single nucleotide variant	NM_000382.3(ALDH3A2):c.471+18C>G	not provided [RCV003877076]	likely benign	17	19652650	19652650	Human		name
11624820	CV343721	single nucleotide variant	NM_000382.3(ALDH3A2):c.1444-4C>T	Sjögren-Larsson syndrome [RCV000390932]\|not provided [RCV002522924]	likely benign\|uncertain significance	17	19675554	19675554	Human	1	name
11659072	CV345185	microsatellite	NM_000382.3(ALDH3A2):c.*377TG[2]	Sjögren-Larsson syndrome [RCV000354739]	uncertain significance	17	19675949	19675950	Human		name
12740034	CV358406	single nucleotide variant	NM_000382.3(ALDH3A2):c.1108-2A>G	Sjögren-Larsson syndrome [RCV000411031]	likely pathogenic	17	19664946	19664946	Human	1	name
12740181	CV358407	single nucleotide variant	NM_000382.3(ALDH3A2):c.1108-1G>C	Sjögren-Larsson syndrome [RCV000411369]\|not provided [RCV001861367]	pathogenic	17	19664947	19664947	Human	1	name
12739875	CV358408	single nucleotide variant	NM_000382.3(ALDH3A2):c.1108-1G>T	Sjögren-Larsson syndrome [RCV000410648]\|not provided [RCV001861368]	pathogenic\|likely pathogenic	17	19664947	19664947	Human	1	name
12739798	CV358410	single nucleotide variant	NM_000382.3(ALDH3A2):c.1444-1G>T	Sjögren-Larsson syndrome [RCV000410461]	likely pathogenic	17	19675557	19675557	Human	1	name
597945125	CV3844164	single nucleotide variant	NM_000382.3(ALDH3A2):c.799-13T>C	not provided [RCV005188773]	likely benign	17	19661114	19661114	Human		name
13481128	CV445724	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-14T>G	not provided [RCV000521423]	likely pathogenic\|conflicting interpretations of pathogenicity	17	19657731	19657731	Human		name
13788998	CV548033	single nucleotide variant	NM_000382.3(ALDH3A2):c.1108-1G>A	Sjögren-Larsson syndrome [RCV000674269]	likely pathogenic	17	19664947	19664947	Human	1	name
13787619	CV548038	single nucleotide variant	NM_000382.3(ALDH3A2):c.1207+1G>A	Sjögren-Larsson syndrome [RCV000673553]	likely pathogenic	17	19665048	19665048	Human	1	name
13784792	CV548291	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+1G>A	Sjögren-Larsson syndrome [RCV000671279]\|not specified [RCV002222597]	pathogenic\|likely pathogenic\|uncertain significance	17	19671957	19671957	Human	1	name
15104652	CV760564	single nucleotide variant	NM_000382.3(ALDH3A2):c.1444-6C>T	not provided [RCV000915391]	likely benign	17	19675552	19675552	Human		name
15131968	CV788219	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+7C>G	not provided [RCV000981300]	likely benign	17	19671963	19671963	Human		name
150502312	CV1223173	single nucleotide variant	NM_000382.3(ALDH3A2):c.386-135A>T	not provided [RCV001621106]	benign	17	19652412	19652412	Human		name
150515288	CV1227508	single nucleotide variant	NM_000382.3(ALDH3A2):c.798+259A>T	not provided [RCV001638781]	benign	17	19658121	19658121	Human		name
150486215	CV1234564	single nucleotide variant	NM_000382.3(ALDH3A2):c.472-211A>G	not provided [RCV001653987]	benign	17	19656155	19656155	Human		name
150431143	CV1235349	single nucleotide variant	NM_000382.3(ALDH3A2):c.472-150G>C	not provided [RCV001641719]	benign	17	19656216	19656216	Human		name
150464770	CV1252764	single nucleotide variant	NM_000382.3(ALDH3A2):c.940+232C>T	not provided [RCV001670088]	benign	17	19661500	19661500	Human		name
150449799	CV1254025	single nucleotide variant	NM_000382.3(ALDH3A2):c.798+254T>G	not provided [RCV001667662]	benign	17	19658116	19658116	Human		name
150501323	CV1256272	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-206A>G	not provided [RCV001676896]	benign	17	19657539	19657539	Human		name
150437324	CV1286527	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+282A>G	not provided [RCV001724606]	benign	17	19649406	19649406	Human		name
150533224	CV1292342	single nucleotide variant	NM_000382.3(ALDH3A2):c.153+223C>G	not provided [RCV001753949]	likely benign	17	19649347	19649347	Human		name
151351483	CV1321826	single nucleotide variant	NM_000382.3(ALDH3A2):c.681-159C>T	not provided [RCV001806496]	likely benign	17	19657586	19657586	Human		name
152050726	CV1606968	single nucleotide variant	NM_000382.3(ALDH3A2):c.1208-16G>A	not provided [RCV002108934]	likely benign	17	19671705	19671705	Human		name
152121676	CV1628606	single nucleotide variant	NM_000382.3(ALDH3A2):c.1208-10T>C	not provided [RCV002175663]	likely benign	17	19671711	19671711	Human		name
152074648	CV1652762	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+12T>G	not provided [RCV002148536]	likely benign	17	19671968	19671968	Human		name
156030913	CV2036897	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+11A>G	not provided [RCV002781105]	likely benign	17	19671967	19671967	Human		name
156341294	CV2174898	single nucleotide variant	NM_000382.3(ALDH3A2):c.1444-14T>G	not provided [RCV003047751]	uncertain significance	17	19675544	19675544	Human		name
405054437	CV2890282	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+18A>G	not provided [RCV003580033]	likely benign	17	19671974	19671974	Human		name
405161945	CV2895246	single nucleotide variant	NM_000382.3(ALDH3A2):c.1108-11T>C	not provided [RCV003562458]	likely benign	17	19664937	19664937	Human		name
405112015	CV2903372	single nucleotide variant	NM_000382.3(ALDH3A2):c.1108-12G>A	not provided [RCV003558014]	likely benign	17	19664936	19664936	Human		name
405206658	CV2913562	single nucleotide variant	NM_000382.3(ALDH3A2):c.1108-13G>T	not provided [RCV003566592]	likely benign	17	19664935	19664935	Human		name
405156339	CV2956507	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+14A>G	not provided [RCV003674364]	likely benign	17	19671970	19671970	Human		name
404982615	CV2982766	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+17C>T	not provided [RCV003691388]	likely benign	17	19671973	19671973	Human		name
405116246	CV2996562	single nucleotide variant	NM_000382.3(ALDH3A2):c.1444-20T>C	not provided [RCV003723390]	likely benign	17	19675538	19675538	Human		name
402519622	CV3003370	single nucleotide variant	NM_000382.3(ALDH3A2):c.1208-16G>T	not provided [RCV003716226]	likely benign	17	19671705	19671705	Human		name
405252482	CV3047301	single nucleotide variant	NM_000382.3(ALDH3A2):c.1208-11C>G	not provided [RCV003722237]	likely benign	17	19671710	19671710	Human		name
405034053	CV3072304	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+11A>C	not provided [RCV003739369]	likely benign	17	19671967	19671967	Human		name
405237117	CV3080770	single nucleotide variant	NM_000382.3(ALDH3A2):c.1208-12C>T	not provided [RCV003736097]	likely benign	17	19671709	19671709	Human		name
405133752	CV3130112	single nucleotide variant	NM_000382.3(ALDH3A2):c.1208-16G>C	not provided [RCV003838535]	likely benign	17	19671705	19671705	Human		name
405160797	CV3159977	single nucleotide variant	NM_000382.3(ALDH3A2):c.1108-18C>T	not provided [RCV003857048]	likely benign	17	19664930	19664930	Human		name
405199018	CV3164532	single nucleotide variant	NM_000382.3(ALDH3A2):c.1207+17C>T	not provided [RCV003860589]	likely benign	17	19665064	19665064	Human		name
11620491	CV327687	microsatellite	NM_000382.3(ALDH3A2):c.*1877CA[1]	Sjögren-Larsson syndrome [RCV000337707]	benign	17	19677448	19677449	Human		name
597847869	CV3736789	single nucleotide variant	NM_000382.3(ALDH3A2):c.1207+12T>C	not provided [RCV005065948]	likely benign	17	19665059	19665059	Human		name
597837106	CV3828719	single nucleotide variant	NM_000382.3(ALDH3A2):c.1108-19A>C	not provided [RCV005171412]	likely benign	17	19664929	19664929	Human		name
13789117	CV550064	single nucleotide variant	NM_000382.3(ALDH3A2):c.1208-30A>C	not provided [RCV000676616]	likely benign	17	19671691	19671691	Human		name
150404533	CV1178995	deletion	NM_000382.3(ALDH3A2):c.1207+130del	Sjögren-Larsson syndrome [RCV001548870]\|not provided [RCV001615290]	benign	17	19665174	19665174	Human	1	name
150446606	CV1271892	deletion	NM_000382.3(ALDH3A2):c.1444-131del	not provided [RCV001691306]	benign	17	19675422	19675422	Human		name
150443942	CV1277924	single nucleotide variant	NM_000382.3(ALDH3A2):c.1444-225T>C	not provided [RCV001707067]	benign	17	19675333	19675333	Human		name
150535215	CV1311813	single nucleotide variant	NM_000382.3(ALDH3A2):c.1107+208C>T	not provided [RCV001779623]	likely benign	17	19663707	19663707	Human		name
150334179	CV1172969	deletion	NM_000382.3(ALDH3A2):c.1443+1440del	not provided [RCV001539847]	benign	17	19673387	19673387	Human		name
150452132	CV1220956	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+1009C>T	not provided [RCV001612050]	benign	17	19672965	19672965	Human		name
150483410	CV1247616	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+1022T>C	not provided [RCV001673442]	benign	17	19672978	19672978	Human		name
150446585	CV1261385	deletion	NM_000382.3(ALDH3A2):c.1443+1400del	not provided [RCV001680059]	benign	17	19673356	19673356	Human		name
598244000	CV3895361	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443+1240G>A	Sjögren-Larsson syndrome [RCV005365615]	uncertain significance	17	19673196	19673196	Human	1	name
13786321	CV548016	deletion	NM_000382.3(ALDH3A2):c.1443+1222del	Sjögren-Larsson syndrome [RCV000672735]	likely benign	17	19673177	19673177	Human	1	name
13789016	CV548024	microsatellite	NM_000382.2(ALDH3A2):c.154_155delAG	Sjögren-Larsson syndrome [RCV000665731]\|not provided [RCV001380616]	pathogenic\|likely pathogenic	17	19651545	19651546	Human		name
151232393	CV1316894	single nucleotide variant	NM_001369137.2(ALDH3A2):c.-37-196T>C	not provided [RCV001786714]	likely benign	17	19648739	19648739	Human		name
151755739	CV1334680	single nucleotide variant	NM_001369137.2(ALDH3A2):c.-38+334G>C	not provided [RCV001843637]	likely benign	17	19648599	19648599	Human		name
152031895	CV1629273	microsatellite	NM_000382.3(ALDH3A2):c.386-5_386-2del	not provided [RCV002106259]	likely benign	17	19652538	19652541	Human		name
155266215	CV1699656	deletion	NM_000382.3(ALDH3A2):c.154-6_154-2del	not specified [RCV002281755]	uncertain significance	17	19651540	19651544	Human		name
12740575	CV358402	deletion	NM_000382.3(ALDH3A2):c.798+1_798+6del	Sjögren-Larsson syndrome [RCV000412363]\|not provided [RCV000804821]	pathogenic\|likely pathogenic	17	19657863	19657868	Human	1	name
14727224	CV653206	deletion	NM_000382.3(ALDH3A2):c.675_681-212del	not provided [RCV000815997]	likely pathogenic	17	19656569	19657533	Human		name
127239331	CV1104593	deletion	NM_000382.3(ALDH3A2):c.386-10_386-6del	not provided [RCV001433951]	likely benign	17	19652533	19652537	Human		name
402493561	CV2982055	deletion	NM_000382.3(ALDH3A2):c.1160_1207+66del	not provided [RCV003714015]	likely pathogenic	17	19664998	19665111	Human		name
405161413	CV3021600	single nucleotide variant	NM_000382.3(ALDH3A2):c.15C>G (p.Val5=)	not provided [RCV003703991]	likely benign	17	19648986	19648986	Human		name
402473792	CV3029974	deletion	NM_001369146.2(ALDH3A2):c.1208-3837del	not provided [RCV003697660]	pathogenic	17	19671720	19671720	Human		name
13789106	CV550061	insertion	NM_000382.3(ALDH3A2):c.941-1_941insGGG	not provided [RCV000676613]	uncertain significance	17	19663331	19663332	Human		name
15137284	CV785482	single nucleotide variant	NM_000382.3(ALDH3A2):c.27A>T (p.Arg9=)	not provided [RCV000982263]	likely benign	17	19648998	19648998	Human		name
127315288	CV1126005	single nucleotide variant	NM_000382.3(ALDH3A2):c.87C>T (p.Ala29=)	not provided [RCV001457949]	likely benign	17	19649058	19649058	Human		name
127292692	CV1146906	single nucleotide variant	NM_000382.3(ALDH3A2):c.88C>T (p.Leu30=)	not provided [RCV001496539]	likely benign	17	19649059	19649059	Human		name
127337140	CV1146908	deletion	NM_000382.3(ALDH3A2):c.471+11_471+13del	not provided [RCV001492638]	likely benign	17	19652641	19652643	Human		name
150404531	CV1178994	microsatellite	NM_000382.3(ALDH3A2):c.681-37_681-30del	Sjögren-Larsson syndrome [RCV001548869]\|not provided [RCV001655872]	benign	17	19657699	19657706	Human		name
152150090	CV1531198	single nucleotide variant	NM_000382.3(ALDH3A2):c.94A>C (p.Arg32=)	not provided [RCV002201830]	likely benign	17	19649065	19649065	Human		name
152127473	CV1581106	single nucleotide variant	NM_000382.3(ALDH3A2):c.75G>A (p.Gln25=)	not provided [RCV002099019]	likely benign	17	19649046	19649046	Human		name
152111067	CV1581915	single nucleotide variant	NM_000382.3(ALDH3A2):c.42C>T (p.Ser14=)	not provided [RCV002096855]	likely benign	17	19649013	19649013	Human		name
152090256	CV1624310	deletion	NM_000382.3(ALDH3A2):c.941-17_941-14del	not provided [RCV002150498]	likely benign	17	19663313	19663316	Human		name
152136823	CV1625395	single nucleotide variant	NM_000382.3(ALDH3A2):c.63G>T (p.Arg21=)	not provided [RCV002137650]	likely benign	17	19649034	19649034	Human		name
152116849	CV1643364	single nucleotide variant	NM_000382.3(ALDH3A2):c.36C>T (p.Phe12=)	not provided [RCV002216253]	likely benign	17	19649007	19649007	Human		name
156021479	CV2141316	single nucleotide variant	NM_000382.3(ALDH3A2):c.81G>A (p.Leu27=)	not provided [RCV002976174]	likely benign	17	19649052	19649052	Human		name
405210999	CV2966886	single nucleotide variant	NM_000382.3(ALDH3A2):c.90G>A (p.Leu30=)	not provided [RCV003679392]	likely benign	17	19649061	19649061	Human		name
404988945	CV2998615	deletion	NM_000382.3(ALDH3A2):c.1108-5_1108-3del	not provided [RCV003692103]	likely benign	17	19664941	19664943	Human		name
405241573	CV3004666	single nucleotide variant	NM_000382.3(ALDH3A2):c.93G>A (p.Arg31=)	not provided [RCV003719226]	likely benign	17	19649064	19649064	Human		name
405124181	CV3021123	single nucleotide variant	NM_000382.3(ALDH3A2):c.96G>A (p.Arg32=)	not provided [RCV003701074]	likely benign	17	19649067	19649067	Human		name
405133334	CV3022111	single nucleotide variant	NM_000382.3(ALDH3A2):c.69G>A (p.Arg23=)	not provided [RCV003701867]	likely benign	17	19649040	19649040	Human		name
405115790	CV3115793	deletion	NM_000382.3(ALDH3A2):c.799-17_799-15del	not provided [RCV003814283]	likely benign	17	19661108	19661110	Human		name
405233353	CV3157653	single nucleotide variant	NM_000382.3(ALDH3A2):c.37C>T (p.Leu13=)	not provided [RCV003865603]	likely benign	17	19649008	19649008	Human		name
13791844	CV547979	single nucleotide variant	NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)	Sjögren-Larsson syndrome [RCV000667969]\|not provided [RCV003708546]	pathogenic\|likely pathogenic	17	19648973	19648973	Human	1	name
13790868	CV548276	single nucleotide variant	NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)	Sjögren-Larsson syndrome [RCV000666856]	likely pathogenic	17	19648972	19648972	Human	1	name
13790860	CV548282	single nucleotide variant	NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)	Sjögren-Larsson syndrome [RCV000666849]	likely pathogenic	17	19648972	19648972	Human	1	name
13790854	CV548755	single nucleotide variant	NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)	Sjögren-Larsson syndrome [RCV000666846]	likely pathogenic	17	19648974	19648974	Human	1	name
13791899	CV548758	single nucleotide variant	NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)	Sjögren-Larsson syndrome [RCV000668039]\|not provided [RCV003574796]	pathogenic\|likely pathogenic	17	19648974	19648974	Human	1	name
15143207	CV785483	single nucleotide variant	NM_000382.3(ALDH3A2):c.45C>A (p.Gly15=)	not provided [RCV000983287]	likely benign	17	19649016	19649016	Human		name
28907418	CV876999	single nucleotide variant	NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=)	Sjögren-Larsson syndrome [RCV001127574]\|not provided [RCV001464468]	likely benign\|uncertain significance	17	19649058	19649058	Human	1	name
127252310	CV1082788	single nucleotide variant	NM_000382.3(ALDH3A2):c.195T>C (p.Leu65=)	ALDH3A2-related disorder [RCV003920877]\|not provided [RCV001400326]	likely benign	17	19651588	19651588	Human	1	name , trait , alternate_id
127283157	CV1082789	single nucleotide variant	NM_000382.3(ALDH3A2):c.285C>A (p.Ala95=)	not provided [RCV001411588]	likely benign	17	19651678	19651678	Human		name
127252653	CV1082790	single nucleotide variant	NM_000382.3(ALDH3A2):c.294G>A (p.Gln98=)	not provided [RCV001418124]	likely benign	17	19651687	19651687	Human		name
127263538	CV1104591	single nucleotide variant	NM_000382.3(ALDH3A2):c.124C>T (p.Leu42=)	not provided [RCV001439317]	likely benign	17	19649095	19649095	Human		name
127279595	CV1104592	single nucleotide variant	NM_000382.3(ALDH3A2):c.129G>A (p.Thr43=)	ALDH3A2-related disorder [RCV003892174]\|not provided [RCV001445888]	likely benign	17	19649100	19649100	Human	1	name , trait , alternate_id
127317805	CV1126006	single nucleotide variant	NM_000382.3(ALDH3A2):c.126G>T (p.Leu42=)	not provided [RCV001465997]	likely benign	17	19649097	19649097	Human		name
127334384	CV1126007	single nucleotide variant	NM_000382.3(ALDH3A2):c.138C>T (p.Ala46=)	not provided [RCV001473538]	likely benign	17	19649109	19649109	Human		name
127298357	CV1126008	single nucleotide variant	NM_000382.3(ALDH3A2):c.141C>T (p.Ala47=)	not provided [RCV001477887]	likely benign	17	19649112	19649112	Human		name
127335544	CV1126009	single nucleotide variant	NM_000382.3(ALDH3A2):c.165T>C (p.Asn55=)	not provided [RCV001474356]	likely benign	17	19651558	19651558	Human		name
127322823	CV1126010	single nucleotide variant	NM_000382.3(ALDH3A2):c.168G>A (p.Val56=)	not provided [RCV001467735]	likely benign	17	19651561	19651561	Human		name
127310228	CV1126011	single nucleotide variant	NM_000382.3(ALDH3A2):c.261C>T (p.Asn87=)	not provided [RCV001463812]	likely benign	17	19651654	19651654	Human		name
127298995	CV1126012	single nucleotide variant	NM_000382.3(ALDH3A2):c.276G>T (p.Leu92=)	not provided [RCV001460685]	likely benign	17	19651669	19651669	Human		name
151856563	CV1470028	duplication	NM_000382.3(ALDH3A2):c.472-105_472-10dup	not provided [RCV001883403]	likely benign\|uncertain significance	17	19656258	19656259	Human		name
152058268	CV1523310	single nucleotide variant	NM_000382.3(ALDH3A2):c.123C>T (p.Ile41=)	not provided [RCV002167705]	likely benign	17	19649094	19649094	Human		name
152051898	CV1528126	single nucleotide variant	NM_000382.3(ALDH3A2):c.189T>A (p.Thr63=)	not provided [RCV002089263]	likely benign	17	19651582	19651582	Human		name
152167321	CV1557884	single nucleotide variant	NM_000382.3(ALDH3A2):c.198G>A (p.Gly66=)	not provided [RCV002182140]	likely benign	17	19651591	19651591	Human		name
152175091	CV1601861	single nucleotide variant	NM_000382.3(ALDH3A2):c.159A>G (p.Glu53=)	not provided [RCV002163369]	likely benign	17	19651552	19651552	Human		name
156071463	CV1893509	single nucleotide variant	NM_000382.3(ALDH3A2):c.138C>A (p.Ala46=)	not provided [RCV003079554]	likely benign	17	19649109	19649109	Human		name
156447486	CV1945442	single nucleotide variant	NM_000382.3(ALDH3A2):c.16C>T (p.Arg6Trp)	not provided [RCV003119015]	uncertain significance	17	19648987	19648987	Human		name
156296208	CV2073503	single nucleotide variant	NM_000382.3(ALDH3A2):c.264G>C (p.Val88=)	not provided [RCV002833412]	likely benign	17	19651657	19651657	Human		name
156267460	CV2097171	single nucleotide variant	NM_000382.3(ALDH3A2):c.249A>G (p.Pro83=)	not provided [RCV002877489]	likely benign	17	19651642	19651642	Human		name
156342805	CV2103530	single nucleotide variant	NM_000382.3(ALDH3A2):c.285C>T (p.Ala95=)	not provided [RCV002900573]	likely benign	17	19651678	19651678	Human		name
156122043	CV2128573	single nucleotide variant	NM_000382.3(ALDH3A2):c.285C>G (p.Ala95=)	not provided [RCV002953535]	likely benign	17	19651678	19651678	Human		name
156017957	CV2173907	single nucleotide variant	NM_000382.3(ALDH3A2):c.129G>C (p.Thr43=)	not provided [RCV003035584]	likely benign	17	19649100	19649100	Human		name
156144000	CV2190113	single nucleotide variant	NM_000382.3(ALDH3A2):c.145C>T (p.Leu49=)	not provided [RCV003056291]	likely benign	17	19649116	19649116	Human		name
405090736	CV3021754	single nucleotide variant	NM_000382.3(ALDH3A2):c.135C>T (p.Ile45=)	not provided [RCV003699717]	likely benign	17	19649106	19649106	Human		name
405227410	CV3039520	single nucleotide variant	NM_000382.3(ALDH3A2):c.147G>A (p.Leu49=)	not provided [RCV003710865]	likely benign	17	19649118	19649118	Human		name
597760423	CV3712287	single nucleotide variant	NM_000382.3(ALDH3A2):c.25C>T (p.Arg9Ter)	Sjögren-Larsson syndrome [RCV005018082]	likely pathogenic	17	19648996	19648996	Human	1	name
597938023	CV3774799	single nucleotide variant	NM_000382.3(ALDH3A2):c.267C>T (p.Leu89=)	not provided [RCV005117832]	likely benign	17	19651660	19651660	Human		name
597930112	CV3780207	single nucleotide variant	NM_000382.3(ALDH3A2):c.171C>T (p.Tyr57=)	not provided [RCV005116527]	likely benign	17	19651564	19651564	Human		name
15105619	CV771307	single nucleotide variant	NM_000382.3(ALDH3A2):c.114G>A (p.Glu38=)	Sjögren-Larsson syndrome [RCV001832138]\|not provided [RCV000937628]	likely benign	17	19649085	19649085	Human	1	name
42723487	CV984415	single nucleotide variant	NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)	Sjögren-Larsson syndrome [RCV001291415]	likely pathogenic	17	19648981	19648981	Human	1	name
126746146	CV1015381	deletion	NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)	Sjögren-Larsson syndrome [RCV001328371]	likely pathogenic	17	19649074	19649074	Human	1	name
127281541	CV1082791	single nucleotide variant	NM_000382.3(ALDH3A2):c.304C>T (p.Leu102=)	not provided [RCV001410561]	likely benign	17	19651697	19651697	Human		name
127248939	CV1082792	single nucleotide variant	NM_000382.3(ALDH3A2):c.417G>C (p.Leu139=)	not provided [RCV001417238]	likely benign	17	19652578	19652578	Human		name
127282573	CV1082793	single nucleotide variant	NM_000382.3(ALDH3A2):c.435G>A (p.Lys145=)	not provided [RCV001411193]	likely benign	17	19652596	19652596	Human		name
127241135	CV1082796	single nucleotide variant	NM_000382.3(ALDH3A2):c.774A>G (p.Val258=)	not provided [RCV001415708]	likely benign	17	19657838	19657838	Human		name
127230853	CV1082797	single nucleotide variant	NM_000382.3(ALDH3A2):c.792A>G (p.Thr264=)	not provided [RCV001412763]	likely benign	17	19657856	19657856	Human		name
127282445	CV1082798	single nucleotide variant	NM_000382.3(ALDH3A2):c.801A>G (p.Glu267=)	not provided [RCV001411126]	likely benign	17	19661129	19661129	Human		name
127256729	CV1082799	single nucleotide variant	NM_000382.3(ALDH3A2):c.849C>A (p.Ile283=)	not provided [RCV001419107]	likely benign	17	19661177	19661177	Human		name
127274479	CV1082800	single nucleotide variant	NM_000382.3(ALDH3A2):c.921T>C (p.Asp307=)	not provided [RCV001406306]	likely benign	17	19661249	19661249	Human		name
127230151	CV1082801	single nucleotide variant	NM_000382.3(ALDH3A2):c.936C>T (p.Tyr312=)	not provided [RCV001394594]	likely benign	17	19661264	19661264	Human		name
127271312	CV1082802	single nucleotide variant	NM_000382.3(ALDH3A2):c.999T>C (p.Phe333=)	not provided [RCV001405308]	likely benign	17	19663391	19663391	Human		name
127267433	CV1104594	single nucleotide variant	NM_000382.3(ALDH3A2):c.513G>A (p.Thr171=)	not provided [RCV001429694]	likely benign	17	19656407	19656407	Human		name
127276358	CV1104595	single nucleotide variant	NM_000382.3(ALDH3A2):c.591T>A (p.Ala197=)	not provided [RCV001443777]	likely benign	17	19656485	19656485	Human		name
127270142	CV1104596	single nucleotide variant	NM_000382.3(ALDH3A2):c.874C>T (p.Leu292=)	not provided [RCV001430516]	likely benign	17	19661202	19661202	Human		name
127298043	CV1126013	single nucleotide variant	NM_000382.3(ALDH3A2):c.324C>T (p.Ile108=)	not provided [RCV001453197]	likely benign	17	19651717	19651717	Human		name
127298055	CV1126014	single nucleotide variant	NM_000382.3(ALDH3A2):c.342C>T (p.Pro114=)	not provided [RCV001477807]	likely benign	17	19651735	19651735	Human		name
127310808	CV1126015	single nucleotide variant	NM_000382.3(ALDH3A2):c.363A>G (p.Pro121=)	not provided [RCV001456702]	likely benign	17	19651756	19651756	Human		name
127305558	CV1126017	single nucleotide variant	NM_000382.3(ALDH3A2):c.720C>G (p.Thr240=)	not provided [RCV001462511]	likely benign	17	19657784	19657784	Human		name
127334740	CV1126018	single nucleotide variant	NM_000382.3(ALDH3A2):c.870G>A (p.Arg290=)	not provided [RCV001473817]	likely benign	17	19661198	19661198	Human		name
127300330	CV1126020	single nucleotide variant	NM_000382.3(ALDH3A2):c.942C>G (p.Ala314=)	not provided [RCV001461075]	likely benign	17	19663334	19663334	Human		name
127311576	CV1126021	single nucleotide variant	NM_000382.3(ALDH3A2):c.975C>G (p.Thr325=)	not provided [RCV001464186]	likely benign	17	19663367	19663367	Human		name
127321417	CV1146910	single nucleotide variant	NM_000382.3(ALDH3A2):c.570C>G (p.Gly190=)	not provided [RCV001484524]	likely benign	17	19656464	19656464	Human		name
127317171	CV1146911	single nucleotide variant	NM_000382.3(ALDH3A2):c.657T>C (p.Asp219=)	not provided [RCV001503319]	likely benign	17	19656551	19656551	Human		name
127302310	CV1146915	single nucleotide variant	NM_000382.3(ALDH3A2):c.732C>T (p.Pro244=)	not provided [RCV001499056]	likely benign	17	19657796	19657796	Human		name
127323021	CV1146916	single nucleotide variant	NM_000382.3(ALDH3A2):c.750A>G (p.Glu250=)	not provided [RCV001505289]	likely benign	17	19657814	19657814	Human		name
127316739	CV1146917	single nucleotide variant	NM_000382.3(ALDH3A2):c.948A>G (p.Thr316=)	not provided [RCV001482960]	likely benign	17	19663340	19663340	Human		name
127328279	CV1151096	deletion	NM_000382.3(ALDH3A2):c.126del (p.Thr43fs)	Sjögren-Larsson syndrome [RCV001506973]	likely pathogenic	17	19649097	19649097	Human	1	name
150473970	CV1234370	microsatellite	NM_000382.3(ALDH3A2):c.471+246_471+247del	not provided [RCV001651690]	benign	17	19652875	19652876	Human		name
151847813	CV1450677	single nucleotide variant	NM_000382.3(ALDH3A2):c.65T>C (p.Phe22Ser)	Sjögren-Larsson syndrome [RCV002484592]\|not provided [RCV001957572]	uncertain significance	17	19649036	19649036	Human	1	name
152161141	CV1531014	single nucleotide variant	NM_000382.3(ALDH3A2):c.807T>C (p.Tyr269=)	ALDH3A2-related disorder [RCV003903491]\|not provided [RCV002123215]	likely benign	17	19661135	19661135	Human	1	name , trait , alternate_id
152081636	CV1546793	single nucleotide variant	NM_000382.3(ALDH3A2):c.366G>T (p.Leu122=)	not provided [RCV002130892]	likely benign	17	19651759	19651759	Human		name
152121142	CV1547521	single nucleotide variant	NM_000382.3(ALDH3A2):c.366G>A (p.Leu122=)	not provided [RCV002081568]	likely benign	17	19651759	19651759	Human		name
152119295	CV1558439	single nucleotide variant	NM_000382.3(ALDH3A2):c.520C>T (p.Leu174=)	not provided [RCV002135498]	likely benign	17	19656414	19656414	Human		name
152110542	CV1564071	single nucleotide variant	NM_000382.3(ALDH3A2):c.735C>T (p.Asp245=)	not provided [RCV002174279]	likely benign	17	19657799	19657799	Human		name
152077255	CV1564649	single nucleotide variant	NM_000382.3(ALDH3A2):c.318G>A (p.Leu106=)	not provided [RCV002192576]	likely benign	17	19651711	19651711	Human		name
152172234	CV1575768	single nucleotide variant	NM_000382.3(ALDH3A2):c.774A>C (p.Val258=)	not provided [RCV002183772]	likely benign	17	19657838	19657838	Human		name
152164607	CV1588580	single nucleotide variant	NM_000382.3(ALDH3A2):c.529C>A (p.Arg177=)	not provided [RCV002181570]	likely benign	17	19656423	19656423	Human		name
152163631	CV1600924	single nucleotide variant	NM_000382.3(ALDH3A2):c.594C>G (p.Ala198=)	not provided [RCV002141358]	likely benign	17	19656488	19656488	Human		name
152077381	CV1604734	single nucleotide variant	NM_000382.3(ALDH3A2):c.996T>A (p.Ile332=)	not provided [RCV002092406]	likely benign	17	19663388	19663388	Human		name
152054353	CV1609983	single nucleotide variant	NM_000382.3(ALDH3A2):c.606C>T (p.Thr202=)	not provided [RCV002167251]	likely benign	17	19656500	19656500	Human		name
152165545	CV1611378	single nucleotide variant	NM_000382.3(ALDH3A2):c.903T>C (p.Ala301=)	not provided [RCV002141739]	likely benign	17	19661231	19661231	Human		name
152101950	CV1622351	single nucleotide variant	NM_000382.3(ALDH3A2):c.843G>A (p.Arg281=)	not provided [RCV002195661]	likely benign	17	19661171	19661171	Human		name
152064909	CV1652466	single nucleotide variant	NM_000382.3(ALDH3A2):c.561T>G (p.Thr187=)	not provided [RCV002090762]	likely benign	17	19656455	19656455	Human		name
152119664	CV1654734	single nucleotide variant	NM_000382.3(ALDH3A2):c.381T>G (p.Ala127=)	not provided [RCV002216609]	likely benign	17	19651774	19651774	Human		name
152048229	CV1656848	single nucleotide variant	NM_000382.3(ALDH3A2):c.960T>C (p.Asp320=)	not provided [RCV002189075]	likely benign	17	19663352	19663352	Human		name
152033220	CV1657870	single nucleotide variant	NM_000382.3(ALDH3A2):c.792A>T (p.Thr264=)	not provided [RCV002187046]	likely benign	17	19657856	19657856	Human		name
10041431	CV186955	single nucleotide variant	NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)	Sjögren-Larsson syndrome [RCV000169182]\|not provided [RCV001041547]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	19648999	19648999	Human	1	name
156413109	CV1904732	single nucleotide variant	NM_000382.3(ALDH3A2):c.585A>G (p.Glu195=)	not provided [RCV002588054]	likely benign	17	19656479	19656479	Human		name
156371538	CV1920328	single nucleotide variant	NM_000382.3(ALDH3A2):c.62G>A (p.Arg21Gln)	not provided [RCV002603216]	uncertain significance	17	19649033	19649033	Human		name
156294551	CV2047401	single nucleotide variant	NM_000382.3(ALDH3A2):c.78G>T (p.Gln26His)	Inborn genetic diseases [RCV002770912]\|not provided [RCV002770911]	uncertain significance	17	19649049	19649049	Human	1	name
156076565	CV2053442	single nucleotide variant	NM_000382.3(ALDH3A2):c.726T>C (p.Ile242=)	not provided [RCV002823718]	likely benign	17	19657790	19657790	Human		name
156349601	CV2069403	single nucleotide variant	NM_000382.3(ALDH3A2):c.678C>T (p.Cys226=)	not provided [RCV002811681]	likely benign	17	19656572	19656572	Human		name
156202295	CV2179062	single nucleotide variant	NM_000382.3(ALDH3A2):c.372A>C (p.Gly124=)	not provided [RCV003024495]	likely benign	17	19651765	19651765	Human		name
401730724	CV2686681	single nucleotide variant	NM_000382.3(ALDH3A2):c.29A>T (p.Gln10Leu)	Inborn genetic diseases [RCV003289646]	uncertain significance	17	19649000	19649000	Human	1	name
402524753	CV2868427	single nucleotide variant	NM_000382.3(ALDH3A2):c.951A>C (p.Val317=)	not provided [RCV003548027]	likely benign	17	19663343	19663343	Human		name
405135728	CV2896909	single nucleotide variant	NM_000382.3(ALDH3A2):c.903T>G (p.Ala301=)	not provided [RCV003560395]	likely benign	17	19661231	19661231	Human		name
405200169	CV2897118	single nucleotide variant	NM_000382.3(ALDH3A2):c.699A>G (p.Lys233=)	not provided [RCV003565863]	likely benign	17	19657763	19657763	Human		name
405109939	CV2898871	single nucleotide variant	NM_000382.3(ALDH3A2):c.717A>G (p.Gln239=)	not provided [RCV003557730]	likely benign	17	19657781	19657781	Human		name
405113153	CV2900701	single nucleotide variant	NM_000382.3(ALDH3A2):c.813A>G (p.Glu271=)	not provided [RCV003558165]	likely benign	17	19661141	19661141	Human		name
402470897	CV2904331	single nucleotide variant	NM_000382.3(ALDH3A2):c.630G>C (p.Gly210=)	not provided [RCV003570460]	likely benign	17	19656524	19656524	Human		name
402476703	CV2917123	single nucleotide variant	NM_000382.3(ALDH3A2):c.354C>A (p.Thr118=)	not provided [RCV003571548]	likely benign	17	19651747	19651747	Human		name
402487836	CV2928613	single nucleotide variant	NM_000382.3(ALDH3A2):c.795G>T (p.Val265=)	not provided [RCV003572711]	likely benign	17	19657859	19657859	Human		name
405100470	CV2938306	single nucleotide variant	NM_000382.3(ALDH3A2):c.915G>A (p.Glu305=)	not provided [RCV003665917]	likely benign	17	19661243	19661243	Human		name
405111195	CV2942166	single nucleotide variant	NM_000382.3(ALDH3A2):c.351C>T (p.Leu117=)	not provided [RCV003666329]	likely benign	17	19651744	19651744	Human		name
405115254	CV2953015	single nucleotide variant	NM_000382.3(ALDH3A2):c.468C>T (p.Asp156=)	not provided [RCV003666778]	likely benign	17	19652629	19652629	Human		name
405184946	CV2963793	single nucleotide variant	NM_000382.3(ALDH3A2):c.684C>T (p.Arg228=)	not provided [RCV003676656]	likely benign	17	19657748	19657748	Human		name
405246994	CV2966540	single nucleotide variant	NM_000382.3(ALDH3A2):c.696A>G (p.Gly232=)	not provided [RCV003685561]	likely benign	17	19657760	19657760	Human		name
405213201	CV2971251	single nucleotide variant	NM_000382.3(ALDH3A2):c.771T>C (p.Ile257=)	not provided [RCV003679679]	likely benign	17	19657835	19657835	Human		name
405245166	CV2972755	single nucleotide variant	NM_000382.3(ALDH3A2):c.732C>G (p.Pro244=)	not provided [RCV003685024]	likely benign	17	19657796	19657796	Human		name
405240699	CV2974001	single nucleotide variant	NM_000382.3(ALDH3A2):c.411T>C (p.Ser137=)	not provided [RCV003684004]	likely benign	17	19652572	19652572	Human		name
405119062	CV2993771	single nucleotide variant	NM_000382.3(ALDH3A2):c.882G>A (p.Leu294=)	not provided [RCV003723680]	likely benign	17	19661210	19661210	Human		name
405121916	CV3004185	single nucleotide variant	NM_000382.3(ALDH3A2):c.415C>T (p.Leu139=)	not provided [RCV003723980]	likely benign	17	19652576	19652576	Human		name
405004927	CV3009902	single nucleotide variant	NM_000382.3(ALDH3A2):c.858T>G (p.Arg286=)	not provided [RCV003693501]	likely benign	17	19661186	19661186	Human		name
405242248	CV3014737	single nucleotide variant	NM_000382.3(ALDH3A2):c.664C>T (p.Leu222=)	not provided [RCV003719443]	likely benign	17	19656558	19656558	Human		name
405144222	CV3027279	single nucleotide variant	NM_000382.3(ALDH3A2):c.381T>C (p.Ala127=)	not provided [RCV003702779]	likely benign	17	19651774	19651774	Human		name
405181727	CV3147595	single nucleotide variant	NM_000382.3(ALDH3A2):c.564G>C (p.Ala188=)	not provided [RCV003842497]	likely benign	17	19656458	19656458	Human		name
405230191	CV3153836	single nucleotide variant	NM_000382.3(ALDH3A2):c.888A>G (p.Glu296=)	not provided [RCV003848703]	likely benign	17	19661216	19661216	Human		name
405219098	CV3161387	single nucleotide variant	NM_000382.3(ALDH3A2):c.630G>A (p.Gly210=)	not provided [RCV003863256]	likely benign	17	19656524	19656524	Human		name
11634951	CV327676	single nucleotide variant	NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=)	Sjögren-Larsson syndrome [RCV000294875]\|not provided [RCV003660781]	likely benign\|uncertain significance	17	19661246	19661246	Human	1	name
11656407	CV327677	single nucleotide variant	NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=)	Sjögren-Larsson syndrome [RCV000333430]\|not provided [RCV000944498]	likely benign\|uncertain significance	17	19663349	19663349	Human	1	name
11617393	CV337460	single nucleotide variant	NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)	Sjögren-Larsson syndrome [RCV000304156]\|not provided [RCV002522923]	uncertain significance	17	19649057	19649057	Human	1	name
11612463	CV343715	single nucleotide variant	NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=)	Sjögren-Larsson syndrome [RCV000259431]\|not provided [RCV000940500]	likely benign\|uncertain significance	17	19652578	19652578	Human	1	name
11662511	CV343717	single nucleotide variant	NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=)	Sjögren-Larsson syndrome [RCV000386897]\|not provided [RCV001500270]	likely benign\|uncertain significance	17	19657850	19657850	Human	1	name
12739206	CV358396	deletion	NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)	Sjögren-Larsson syndrome [RCV000409110]	likely pathogenic	17	19651623	19651623	Human	1	name
12740573	CV358398	duplication	NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)	Sjögren-Larsson syndrome [RCV000412357]	likely pathogenic	17	19651673	19651674	Human	1	name
597952579	CV3765680	single nucleotide variant	NM_000382.3(ALDH3A2):c.483T>C (p.Ile161=)	not provided [RCV005121324]	likely benign	17	19656377	19656377	Human		name
597926280	CV3783285	single nucleotide variant	NM_000382.3(ALDH3A2):c.450T>C (p.Leu150=)	not provided [RCV005115971]	likely benign	17	19652611	19652611	Human		name
597943983	CV3847808	single nucleotide variant	NM_000382.3(ALDH3A2):c.621A>G (p.Glu207=)	not provided [RCV005188536]	likely benign	17	19656515	19656515	Human		name
34891797	CV431888	single nucleotide variant	NM_000382.3(ALDH3A2):c.909T>G (p.Gly303=)	not provided [RCV002263712]\|not specified [RCV001174972]	likely benign	17	19661237	19661237	Human		name
13520750	CV487670	single nucleotide variant	NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu)	ALDH3A2-related disorder [RCV003915682]\|Sjögren-Larsson syndrome [RCV001127573]\|not provided [RCV000588256]	benign\|likely benign\|uncertain significance	17	19648999	19648999	Human	1	name , trait , alternate_id
13783446	CV548287	single nucleotide variant	NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter)	Sjögren-Larsson syndrome [RCV000670068]\|not provided [RCV001861786]	pathogenic\|likely pathogenic	17	19649044	19649044	Human	1	name
13789102	CV550060	single nucleotide variant	NM_000382.3(ALDH3A2):c.465A>G (p.Leu155=)	ALDH3A2-related disorder [RCV003945704]\|not provided [RCV000676612]	benign\|likely benign	17	19652626	19652626	Human	1	name , trait , alternate_id
15125356	CV755701	single nucleotide variant	NM_000382.3(ALDH3A2):c.345C>T (p.Phe115=)	Sjögren-Larsson syndrome [RCV001271636]\|not provided [RCV000919140]	likely benign\|uncertain significance	17	19651738	19651738	Human	1	name
15183390	CV771308	single nucleotide variant	NM_000382.3(ALDH3A2):c.339C>T (p.Tyr113=)	not provided [RCV000930579]	likely benign	17	19651732	19651732	Human		name
15181417	CV771309	single nucleotide variant	NM_000382.3(ALDH3A2):c.450T>G (p.Leu150=)	not provided [RCV000930123]	likely benign	17	19652611	19652611	Human		name
15130700	CV771310	single nucleotide variant	NM_000382.3(ALDH3A2):c.564G>A (p.Ala188=)	ALDH3A2-related disorder [RCV003978120]\|Sjögren-Larsson syndrome [RCV001271638]\|not provided [RCV000942096]	likely benign	17	19656458	19656458	Human	1	name , trait , alternate_id
15195817	CV771311	single nucleotide variant	NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=)	Sjögren-Larsson syndrome [RCV001123461]\|not provided [RCV000934045]	likely benign\|uncertain significance	17	19656533	19656533	Human	1	name
15130562	CV785484	single nucleotide variant	NM_000382.3(ALDH3A2):c.378C>T (p.Ile126=)	Sjögren-Larsson syndrome [RCV001271637]\|not provided [RCV000981063]	likely benign\|uncertain significance	17	19651771	19651771	Human	1	name
25316802	CV804830	single nucleotide variant	NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter)	Sjögren-Larsson syndrome [RCV001007560]\|not provided [RCV001862748]	pathogenic	17	19649021	19649021	Human	1	name
28907425	CV877001	single nucleotide variant	NM_000382.3(ALDH3A2):c.303T>C (p.Pro101=)	Sjögren-Larsson syndrome [RCV001127577]\|not provided [RCV001501082]	likely benign\|uncertain significance	17	19651696	19651696	Human	1	name
127260337	CV1063869	deletion	NM_000382.3(ALDH3A2):c.538del (p.His180fs)	not provided [RCV001380311]	pathogenic	17	19656431	19656431	Human		name
405873597	CV1063873	deletion	NM_000382.3(ALDH3A2):c.901del (p.Ala301fs)	Sjögren-Larsson syndrome [RCV004576147]	likely pathogenic	17	19661229	19661229	Human	1	name
127250154	CV1082804	single nucleotide variant	NM_000382.3(ALDH3A2):c.1428C>T (p.Ala476=)	not provided [RCV001399805]	likely benign	17	19671941	19671941	Human		name
127256439	CV1104598	single nucleotide variant	NM_000382.3(ALDH3A2):c.1140T>C (p.Ser380=)	not provided [RCV001426813]	likely benign	17	19664980	19664980	Human		name
127278542	CV1104600	single nucleotide variant	NM_000382.3(ALDH3A2):c.1251T>C (p.Asp417=)	not provided [RCV001445134]	likely benign	17	19671764	19671764	Human		name
127270837	CV1104601	single nucleotide variant	NM_000382.3(ALDH3A2):c.1290A>G (p.Leu430=)	not provided [RCV001441577]	likely benign	17	19671803	19671803	Human		name
127278562	CV1104602	single nucleotide variant	NM_000382.3(ALDH3A2):c.1431T>C (p.Ala477=)	not provided [RCV001445146]	likely benign	17	19671944	19671944	Human		name
127334353	CV1126022	single nucleotide variant	NM_000382.3(ALDH3A2):c.1314C>G (p.Leu438=)	not provided [RCV001473522]	likely benign	17	19671827	19671827	Human		name
127322601	CV1146918	single nucleotide variant	NM_000382.3(ALDH3A2):c.1065T>C (p.Arg355=)	not provided [RCV001484980]	likely benign	17	19663457	19663457	Human		name
127318441	CV1146919	single nucleotide variant	NM_000382.3(ALDH3A2):c.1110C>T (p.Leu370=)	not provided [RCV001483525]	likely benign	17	19664950	19664950	Human		name
127322864	CV1146920	single nucleotide variant	NM_000382.3(ALDH3A2):c.1131G>A (p.Glu377=)	not provided [RCV001505244]	likely benign	17	19664971	19664971	Human		name
127320805	CV1146921	single nucleotide variant	NM_000382.3(ALDH3A2):c.1161C>T (p.Asp387=)	not provided [RCV001484353]	likely benign	17	19665001	19665001	Human		name
127332212	CV1146922	single nucleotide variant	NM_000382.3(ALDH3A2):c.1188T>C (p.Ser396=)	not provided [RCV001489361]	likely benign	17	19665028	19665028	Human		name
127311620	CV1146923	single nucleotide variant	NM_000382.3(ALDH3A2):c.1233C>T (p.His411=)	not provided [RCV001481505]	likely benign	17	19671746	19671746	Human		name
127292187	CV1146924	single nucleotide variant	NM_000382.3(ALDH3A2):c.1399C>T (p.Leu467=)	not provided [RCV001496451]	likely benign	17	19671912	19671912	Human		name
150529601	CV1292885	single nucleotide variant	NM_000382.3(ALDH3A2):c.202A>G (p.Ile68Val)	not provided [RCV001756278]	uncertain significance	17	19651595	19651595	Human		name
151728366	CV1335172	single nucleotide variant	NM_000382.3(ALDH3A2):c.128C>T (p.Thr43Met)	Inborn genetic diseases [RCV005341066]\|not provided [RCV002543301]\|not specified [RCV001844491]	uncertain significance	17	19649099	19649099	Human	1	name
151820970	CV1408603	single nucleotide variant	NM_000382.3(ALDH3A2):c.275T>A (p.Leu92Gln)	not provided [RCV002013376]	uncertain significance	17	19651668	19651668	Human		name
151868188	CV1419047	single nucleotide variant	NM_000382.3(ALDH3A2):c.109C>A (p.Arg37Ser)	Inborn genetic diseases [RCV004975926]\|not provided [RCV001960089]	uncertain significance	17	19649080	19649080	Human	1	name
151885717	CV1445043	duplication	NM_000382.3(ALDH3A2):c.699dup (p.Tyr234fs)	not provided [RCV001942008]	pathogenic	17	19657759	19657760	Human		name
151852090	CV1459481	single nucleotide variant	NM_000382.3(ALDH3A2):c.224T>G (p.Leu75Arg)	not provided [RCV002033312]	uncertain significance	17	19651617	19651617	Human		name
151667625	CV1494915	single nucleotide variant	NM_000382.3(ALDH3A2):c.1332C>T (p.Ser444=)	not provided [RCV002001466]	likely benign	17	19671845	19671845	Human		name
151723842	CV1500351	single nucleotide variant	NM_000382.3(ALDH3A2):c.133A>T (p.Ile45Phe)	not provided [RCV001910093]	uncertain significance	17	19649104	19649104	Human		name
151721025	CV1504519	deletion	NM_000382.3(ALDH3A2):c.805del (p.Tyr269fs)	not provided [RCV001983081]	pathogenic	17	19661130	19661130	Human		name
152138141	CV1525446	single nucleotide variant	NM_000382.3(ALDH3A2):c.1296A>G (p.Arg432=)	not provided [RCV002137824]	likely benign	17	19671809	19671809	Human		name
152114069	CV1559259	single nucleotide variant	NM_000382.3(ALDH3A2):c.1389A>G (p.Lys463=)	not provided [RCV002174696]	likely benign	17	19671902	19671902	Human		name
152100551	CV1578763	single nucleotide variant	NM_000382.3(ALDH3A2):c.1276T>C (p.Leu426=)	not provided [RCV002151761]	likely benign	17	19671789	19671789	Human		name
152096198	CV1597457	single nucleotide variant	NM_000382.3(ALDH3A2):c.1449A>G (p.Glu483=)	not provided [RCV002114732]	likely benign	17	19675563	19675563	Human		name
152086200	CV1608320	single nucleotide variant	NM_000382.3(ALDH3A2):c.1095G>A (p.Ser365=)	not provided [RCV002212074]	likely benign	17	19663487	19663487	Human		name
152168934	CV1626430	single nucleotide variant	NM_000382.3(ALDH3A2):c.1279T>C (p.Leu427=)	not provided [RCV002182617]	likely benign	17	19671792	19671792	Human		name
152142469	CV1654324	single nucleotide variant	NM_000382.3(ALDH3A2):c.1080T>C (p.Ala360=)	not provided [RCV002200754]	likely benign	17	19663472	19663472	Human		name
152173643	CV1662830	single nucleotide variant	NM_000382.3(ALDH3A2):c.1230T>C (p.Tyr410=)	not provided [RCV002144179]	likely benign	17	19671743	19671743	Human		name
8556359	CV16675	deletion	NM_000382.3(ALDH3A2):c.521del (p.Leu174fs)	Sjögren-Larsson syndrome [RCV000001703]	pathogenic	17	19656415	19656415	Human	1	name
8556360	CV16676	deletion	NM_000382.3(ALDH3A2):c.809del (p.Gly270fs)	Sjögren-Larsson syndrome [RCV000001704]	pathogenic	17	19661136	19661136	Human	1	name
152982608	CV1677534	deletion	NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)	Sjögren-Larsson syndrome [RCV002249244]	pathogenic	17	19656499	19656499	Human	1	name
156312262	CV1934521	single nucleotide variant	NM_000382.3(ALDH3A2):c.1260T>G (p.Ser420=)	not provided [RCV002629845]	likely benign	17	19671773	19671773	Human		name
156062971	CV2065455	single nucleotide variant	NM_000382.3(ALDH3A2):c.1167T>C (p.Ile389=)	not provided [RCV002846836]	likely benign	17	19665007	19665007	Human		name
156078124	CV2083564	single nucleotide variant	NM_000382.3(ALDH3A2):c.1401G>A (p.Leu467=)	not provided [RCV002847295]	likely benign	17	19671914	19671914	Human		name
156040687	CV2089627	single nucleotide variant	NM_000382.3(ALDH3A2):c.124C>G (p.Leu42Val)	not provided [RCV002867429]	uncertain significance	17	19649095	19649095	Human		name
156110539	CV2092862	single nucleotide variant	NM_000382.3(ALDH3A2):c.133A>G (p.Ile45Val)	Inborn genetic diseases [RCV003382963]\|not provided [RCV002913758]	uncertain significance	17	19649104	19649104	Human	1	name
156011502	CV2137170	single nucleotide variant	NM_000382.3(ALDH3A2):c.1020G>C (p.Val340=)	not provided [RCV003017767]	likely benign	17	19663412	19663412	Human		name
156050732	CV2140848	single nucleotide variant	NM_000382.3(ALDH3A2):c.1329C>T (p.Asn443=)	not provided [RCV002999865]	likely benign	17	19671842	19671842	Human		name
156181842	CV2155604	single nucleotide variant	NM_000382.3(ALDH3A2):c.171C>G (p.Tyr57Ter)	not provided [RCV003005728]	pathogenic	17	19651564	19651564	Human		name
156298459	CV2159429	single nucleotide variant	NM_000382.3(ALDH3A2):c.1428C>A (p.Ala476=)	not provided [RCV003045437]	likely benign	17	19671941	19671941	Human		name
156051462	CV2165257	single nucleotide variant	NM_000382.3(ALDH3A2):c.292C>T (p.Gln98Ter)	not provided [RCV003019410]	pathogenic	17	19651685	19651685	Human		name
156136442	CV2165698	deletion	NM_000382.3(ALDH3A2):c.715del (p.Gln239fs)	not provided [RCV003022369]	pathogenic	17	19657778	19657778	Human		name
156247837	CV2174395	single nucleotide variant	NM_000382.3(ALDH3A2):c.1038T>C (p.Asp346=)	not provided [RCV003043680]	likely benign	17	19663430	19663430	Human		name
156155152	CV2190790	single nucleotide variant	NM_000382.3(ALDH3A2):c.125T>C (p.Leu42Pro)	not provided [RCV003040505]	uncertain significance	17	19649096	19649096	Human		name
155931906	CV2221117	single nucleotide variant	NM_000382.3(ALDH3A2):c.1443G>A (p.Lys481=)	Inborn genetic diseases [RCV002728885]	uncertain significance	17	19671956	19671956	Human	1	name
156255752	CV2325782	single nucleotide variant	NM_000382.3(ALDH3A2):c.271A>G (p.Met91Val)	Inborn genetic diseases [RCV002959445]	uncertain significance	17	19651664	19651664	Human	1	name
11559787	CV260157	single nucleotide variant	NM_000382.3(ALDH3A2):c.191T>A (p.Val64Asp)	not provided [RCV000254972]	pathogenic\|likely pathogenic	17	19651584	19651584	Human		name
11632842	CV264755	duplication	NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs)	Sjögren-Larsson syndrome [RCV000409660]\|not provided [RCV000290744]	pathogenic\|likely pathogenic	17	19656464	19656465	Human	1	name
405171307	CV2864294	single nucleotide variant	NM_000382.3(ALDH3A2):c.1272C>T (p.Pro424=)	not provided [RCV003542187]	likely benign	17	19671785	19671785	Human		name
405210519	CV2920884	duplication	NM_000382.3(ALDH3A2):c.391dup (p.Ala131fs)	not provided [RCV003567099]	pathogenic	17	19652551	19652552	Human		name
405157812	CV2956650	single nucleotide variant	NM_000382.3(ALDH3A2):c.1110C>G (p.Leu370=)	not provided [RCV003674468]	likely benign	17	19664950	19664950	Human		name
405202478	CV2989200	single nucleotide variant	NM_000382.3(ALDH3A2):c.1302T>G (p.Gly434=)	not provided [RCV003678321]	likely benign	17	19671815	19671815	Human		name
402512917	CV2991349	single nucleotide variant	NM_000382.3(ALDH3A2):c.217G>C (p.Glu73Gln)	not provided [RCV003689700]	uncertain significance	17	19651610	19651610	Human		name
405173352	CV3026731	single nucleotide variant	NM_000382.3(ALDH3A2):c.1026G>A (p.Val342=)	not provided [RCV003704818]	likely benign	17	19663418	19663418	Human		name
405166290	CV3059578	single nucleotide variant	NM_000382.3(ALDH3A2):c.1203A>C (p.Gly401=)	not provided [RCV003727420]	likely benign	17	19665043	19665043	Human		name
405126417	CV3132788	deletion	NM_000382.3(ALDH3A2):c.779del (p.Lys260fs)	not provided [RCV003837951]	pathogenic	17	19657842	19657842	Human		name
405057475	CV3147790	single nucleotide variant	NM_000382.3(ALDH3A2):c.1317A>G (p.Arg439=)	not provided [RCV003850020]	likely benign	17	19671830	19671830	Human		name
402491290	CV3182481	single nucleotide variant	NM_000382.3(ALDH3A2):c.1437T>C (p.Leu479=)	not provided [RCV003876968]	likely benign	17	19671950	19671950	Human		name
405654295	CV3228191	single nucleotide variant	NM_000382.3(ALDH3A2):c.152A>G (p.Lys51Arg)	not specified [RCV003994926]	uncertain significance	17	19649123	19649123	Human		name
407428640	CV3410309	single nucleotide variant	NM_000382.3(ALDH3A2):c.234G>C (p.Trp78Cys)	not specified [RCV004587916]	uncertain significance	17	19651627	19651627	Human		name
11615817	CV343719	single nucleotide variant	NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=)	Sjögren-Larsson syndrome [RCV000289136]\|not provided [RCV000939766]	likely benign\|uncertain significance	17	19665028	19665028	Human	1	name
11627494	CV345179	single nucleotide variant	NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=)	Sjögren-Larsson syndrome [RCV000283231]\|not provided [RCV000676620]\|not specified [RCV001528358]	benign	17	19675560	19675560	Human	1	name
407573871	CV3498220	single nucleotide variant	NM_000382.3(ALDH3A2):c.142G>T (p.Asp48Tyr)	Sjögren-Larsson syndrome [RCV004702694]	likely pathogenic	17	19649113	19649113	Human	1	name
596925291	CV3541983	duplication	NM_000382.3(ALDH3A2):c.421dup (p.Glu141fs)	Sjögren-Larsson syndrome [RCV004795697]	pathogenic	17	19652581	19652582	Human	1	name
12740565	CV358393	deletion	NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)	Sjögren-Larsson syndrome [RCV000412337]\|not provided [RCV000791516]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	19648992	19649017	Human	1	name
12738617	CV358397	single nucleotide variant	NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)	Sjögren-Larsson syndrome [RCV000410260]	likely pathogenic	17	19651627	19651627	Human	1	name
12739177	CV358399	deletion	NM_000382.3(ALDH3A2):c.577del (p.Val193fs)	Sjögren-Larsson syndrome [RCV000409048]	likely pathogenic	17	19656471	19656471	Human	1	name
12740554	CV358400	duplication	NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)	Sjögren-Larsson syndrome [RCV000412314]	likely pathogenic	17	19657830	19657831	Human	1	name
597917049	CV3767787	single nucleotide variant	NM_000382.3(ALDH3A2):c.1002A>G (p.Gly334=)	not provided [RCV005114588]	likely benign	17	19663394	19663394	Human		name
597954045	CV3786599	duplication	NM_000382.3(ALDH3A2):c.955dup (p.Thr319fs)	not provided [RCV005121690]	pathogenic	17	19663346	19663347	Human		name
597904147	CV3793227	single nucleotide variant	NM_000382.3(ALDH3A2):c.1083T>G (p.Leu361=)	not provided [RCV005153195]	likely benign	17	19663475	19663475	Human		name
13434938	CV431883	single nucleotide variant	NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter)	Sjögren-Larsson syndrome [RCV000504626]	pathogenic	17	19649074	19649074	Human	1	name
15159662	CV740643	single nucleotide variant	NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly)	Sjögren-Larsson syndrome [RCV001127575]\|not provided [RCV000902983]	benign\|uncertain significance	17	19649090	19649090	Human	1	name
15186366	CV740644	single nucleotide variant	NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=)	Sjögren-Larsson syndrome [RCV001125562]\|not provided [RCV000908787]	likely benign\|uncertain significance	17	19671911	19671911	Human	1	name
15127373	CV771313	single nucleotide variant	NM_000382.3(ALDH3A2):c.1077G>T (p.Leu359=)	not provided [RCV000941534]	likely benign	17	19663469	19663469	Human		name
15185197	CV771314	single nucleotide variant	NM_000382.3(ALDH3A2):c.1179G>A (p.Thr393=)	Sjögren-Larsson syndrome [RCV001826950]\|not provided [RCV000930992]	likely benign	17	19665019	19665019	Human	1	name
15135987	CV785485	single nucleotide variant	NM_000382.3(ALDH3A2):c.1032T>C (p.Asn344=)	Sjögren-Larsson syndrome [RCV001832286]\|not provided [RCV000982028]	likely benign	17	19663424	19663424	Human	1	name
21072967	CV791687	deletion	NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)	Sjögren-Larsson syndrome [RCV000989773]	pathogenic\|likely pathogenic	17	19663337	19663337	Human	1	name
28907422	CV877000	single nucleotide variant	NM_000382.3(ALDH3A2):c.287A>G (p.Tyr96Cys)	Sjögren-Larsson syndrome [RCV001127576]\|not provided [RCV001786439]	uncertain significance	17	19651680	19651680	Human	1	name
28900898	CV877004	single nucleotide variant	NM_000382.3(ALDH3A2):c.1254T>C (p.Thr418=)	Sjögren-Larsson syndrome [RCV001124551]\|not provided [RCV001431042]	likely benign\|uncertain significance	17	19671767	19671767	Human	1	name
28900905	CV877005	single nucleotide variant	NM_000382.3(ALDH3A2):c.1347T>C (p.Asp449=)	Sjögren-Larsson syndrome [RCV001124552]\|not provided [RCV001401278]	likely benign\|uncertain significance	17	19671860	19671860	Human	1	name
28903255	CV877006	single nucleotide variant	NM_000382.3(ALDH3A2):c.1392C>T (p.Leu464=)	Sjögren-Larsson syndrome [RCV001125561]\|not provided [RCV002070047]	likely benign\|uncertain significance	17	19671905	19671905	Human	1	name
28903257	CV877007	single nucleotide variant	NM_000382.3(ALDH3A2):c.1431T>A (p.Ala477=)	Sjögren-Larsson syndrome [RCV001125563]\|not provided [RCV001456240]	likely benign\|uncertain significance	17	19671944	19671944	Human	1	name
126762660	CV1012620	single nucleotide variant	NM_000382.3(ALDH3A2):c.554G>A (p.Gly185Glu)	not provided [RCV001319001]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	19656448	19656448	Human		name
126727346	CV1018258	single nucleotide variant	NM_000382.3(ALDH3A2):c.605C>A (p.Thr202Asn)	Sjögren-Larsson syndrome [RCV001332394]	uncertain significance	17	19656499	19656499	Human	1	name
126767396	CV1033112	single nucleotide variant	NM_000382.3(ALDH3A2):c.832G>A (p.Asp278Asn)	Sjögren-Larsson syndrome [RCV001825889]\|not provided [RCV001342808]	uncertain significance	17	19661160	19661160	Human	1	name
150548126	CV1314154	single nucleotide variant	NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter)	Sjögren-Larsson syndrome [RCV001785907]	likely pathogenic	17	19657840	19657840	Human	1	name
151800600	CV1344145	single nucleotide variant	NM_000382.3(ALDH3A2):c.856C>T (p.Arg286Cys)	not provided [RCV002028054]	uncertain significance	17	19661184	19661184	Human		name
151803024	CV1352394	duplication	NM_000382.3(ALDH3A2):c.28_29dup (p.Gln10fs)	not provided [RCV001899239]	pathogenic	17	19648997	19648998	Human		name
151805005	CV1363076	single nucleotide variant	NM_000382.3(ALDH3A2):c.550A>G (p.Thr184Ala)	not provided [RCV002028444]	likely pathogenic	17	19656444	19656444	Human		name
151755519	CV1387834	single nucleotide variant	NM_000382.3(ALDH3A2):c.877A>G (p.Ser293Gly)	not provided [RCV001969629]	uncertain significance	17	19661205	19661205	Human		name
151826254	CV1396159	single nucleotide variant	NM_000382.3(ALDH3A2):c.824A>T (p.Glu275Val)	not provided [RCV001934614]	uncertain significance	17	19661152	19661152	Human		name
151773124	CV1401293	single nucleotide variant	NM_000382.3(ALDH3A2):c.670A>G (p.Ile224Val)	Inborn genetic diseases [RCV002657699]\|not provided [RCV002025553]	likely benign	17	19656564	19656564	Human	1	name
151889156	CV1419486	single nucleotide variant	NM_000382.3(ALDH3A2):c.427A>G (p.Thr143Ala)	not provided [RCV001963370]	uncertain significance	17	19652588	19652588	Human		name
151741100	CV1455407	single nucleotide variant	NM_000382.3(ALDH3A2):c.734A>C (p.Asp245Ala)	not provided [RCV002005826]	likely pathogenic	17	19657798	19657798	Human		name
151798832	CV1467152	deletion	NM_000382.3(ALDH3A2):c.1137del (p.Ser380fs)	Sjögren-Larsson syndrome [RCV005016797]\|not provided [RCV001898868]	pathogenic\|likely pathogenic	17	19664976	19664976	Human	1	name
151818966	CV1482164	single nucleotide variant	NM_000382.3(ALDH3A2):c.419G>A (p.Ser140Asn)	not provided [RCV002029699]	uncertain significance	17	19652580	19652580	Human		name
151734107	CV1494391	single nucleotide variant	NM_000382.3(ALDH3A2):c.428C>T (p.Thr143Ile)	not provided [RCV001946355]	uncertain significance	17	19652589	19652589	Human		name
151867924	CV1516548	single nucleotide variant	NM_000382.3(ALDH3A2):c.835T>C (p.Tyr279His)	not provided [RCV001980932]	likely pathogenic	17	19661163	19661163	Human		name
152115326	CV1526082	single nucleotide variant	NM_000382.3(ALDH3A2):c.346G>A (p.Val116Ile)	Inborn genetic diseases [RCV004976215]\|not provided [RCV002174855]	likely benign\|uncertain significance	17	19651739	19651739	Human	1	name
152125938	CV1565708	single nucleotide variant	NM_000382.3(ALDH3A2):c.931C>T (p.Arg311Cys)	not provided [RCV002136313]	likely benign	17	19661259	19661259	Human		name
8556362	CV16678	single nucleotide variant	NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)	Sjögren-Larsson syndrome [RCV000001706]	pathogenic	17	19656535	19656535	Human	1	name
8556363	CV16679	single nucleotide variant	NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)	Sjögren-Larsson syndrome [RCV000001707]\|not provided [RCV000255529]	pathogenic\|likely pathogenic	17	19663335	19663335	Human	1	name
8556366	CV16682	single nucleotide variant	NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)	Sjögren-Larsson syndrome [RCV000001710]\|not provided [RCV000414702]	pathogenic\|likely pathogenic	17	19657862	19657862	Human	1	name
152978694	CV1671750	single nucleotide variant	NM_000382.3(ALDH3A2):c.620A>C (p.Glu207Ala)	Sjögren-Larsson syndrome [RCV002227849]	uncertain significance	17	19656514	19656514	Human	1	name
155694603	CV1771930	single nucleotide variant	NM_000382.3(ALDH3A2):c.746G>T (p.Cys249Phe)	not provided [RCV002299514]	uncertain significance	17	19657810	19657810	Human		name
155722546	CV1781460	single nucleotide variant	NM_000382.3(ALDH3A2):c.913G>T (p.Glu305Ter)	Sjögren-Larsson syndrome [RCV002306488]	likely pathogenic	17	19661241	19661241	Human	1	name
155735203	CV1782865	single nucleotide variant	NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter)	Sjögren-Larsson syndrome [RCV002309022]	likely pathogenic	17	19657787	19657787	Human	1	name
155735944	CV1783355	deletion	NM_000382.3(ALDH3A2):c.1096del (p.His366fs)	Sjögren-Larsson syndrome [RCV002309512]	likely pathogenic	17	19663488	19663488	Human	1	name
10041394	CV186957	single nucleotide variant	NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)	Sjögren-Larsson syndrome [RCV000169091]\|not provided [RCV000427449]	pathogenic\|likely pathogenic	17	19656445	19656445	Human	1	name
10041530	CV186960	deletion	NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)	Sjögren-Larsson syndrome [RCV000169395]	likely pathogenic	17	19663491	19663491	Human	1	name
156343969	CV1871549	single nucleotide variant	NM_000382.3(ALDH3A2):c.554G>C (p.Gly185Ala)	not provided [RCV003064407]	likely pathogenic\|uncertain significance	17	19656448	19656448	Human		name
156409627	CV1881438	single nucleotide variant	NM_000382.3(ALDH3A2):c.512C>T (p.Thr171Met)	not provided [RCV003071750]	uncertain significance	17	19656406	19656406	Human		name
156284656	CV1884731	duplication	NM_000382.3(ALDH3A2):c.1384dup (p.Glu462fs)	not provided [RCV003061197]	pathogenic	17	19671896	19671897	Human		name
156410064	CV1888125	single nucleotide variant	NM_000382.3(ALDH3A2):c.668A>G (p.Asp223Gly)	Inborn genetic diseases [RCV004071663]\|not provided [RCV003071922]	uncertain significance	17	19656562	19656562	Human	1	name
10045119	CV188877	single nucleotide variant	NM_000382.3(ALDH3A2):c.623T>C (p.Leu208Pro)	Sjögren-Larsson syndrome [RCV004527366]\|not provided [RCV000171251]	likely pathogenic\|no classifications from unflagged records	17	19656517	19656517	Human	1	name
156307297	CV1898752	single nucleotide variant	NM_000382.3(ALDH3A2):c.958G>A (p.Asp320Asn)	not provided [RCV003088242]	uncertain significance	17	19663350	19663350	Human		name
156417698	CV1909977	single nucleotide variant	NM_000382.3(ALDH3A2):c.465A>C (p.Leu155Phe)	not provided [RCV002610858]	uncertain significance	17	19652626	19652626	Human		name
156177564	CV1924321	single nucleotide variant	NM_000382.3(ALDH3A2):c.484G>A (p.Val162Ile)	not provided [RCV002624929]	uncertain significance	17	19656378	19656378	Human		name
156365517	CV1928728	single nucleotide variant	NM_000382.3(ALDH3A2):c.530G>A (p.Arg177Gln)	not provided [RCV002632980]	likely benign	17	19656424	19656424	Human		name
156215134	CV1931013	single nucleotide variant	NM_000382.3(ALDH3A2):c.809G>A (p.Gly270Glu)	Inborn genetic diseases [RCV005335717]\|not provided [RCV002644167]	uncertain significance	17	19661137	19661137	Human	1	name
156164181	CV1934913	single nucleotide variant	NM_000382.3(ALDH3A2):c.328G>A (p.Ala110Thr)	Inborn genetic diseases [RCV002651889]\|not provided [RCV002664361]	uncertain significance	17	19651721	19651721	Human	1	name
155912206	CV1935306	duplication	NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs)	Sjögren-Larsson syndrome [RCV002510636]	likely pathogenic	17	19671869	19671870	Human	1	name
156341654	CV1957887	single nucleotide variant	NM_000382.3(ALDH3A2):c.925G>A (p.Ala309Thr)	not provided [RCV002580540]	uncertain significance	17	19661253	19661253	Human		name
156412048	CV1970097	single nucleotide variant	NM_000382.3(ALDH3A2):c.301C>A (p.Pro101Thr)	not provided [RCV002608429]	uncertain significance	17	19651694	19651694	Human		name
156015542	CV1986316	single nucleotide variant	NM_000382.3(ALDH3A2):c.985C>T (p.Gln329Ter)	not provided [RCV002636446]	pathogenic	17	19663377	19663377	Human		name
156073422	CV2029113	single nucleotide variant	NM_000382.3(ALDH3A2):c.565G>A (p.Val189Ile)	not provided [RCV002760392]	uncertain significance	17	19656459	19656459	Human		name
156290019	CV2060244	deletion	NM_000382.3(ALDH3A2):c.1176del (p.Phe392fs)	not provided [RCV002807304]	pathogenic	17	19665016	19665016	Human		name
156005881	CV2099735	single nucleotide variant	NM_000382.3(ALDH3A2):c.636T>A (p.Ser212Arg)	not provided [RCV002908854]	likely pathogenic	17	19656530	19656530	Human		name
156300933	CV2104938	single nucleotide variant	NM_000382.3(ALDH3A2):c.857G>A (p.Arg286His)	not provided [RCV002922570]	uncertain significance	17	19661185	19661185	Human		name
156312117	CV2120082	single nucleotide variant	NM_000382.3(ALDH3A2):c.704T>C (p.Met235Thr)	not provided [RCV002962681]	uncertain significance	17	19657768	19657768	Human		name
156244839	CV2149014	single nucleotide variant	NM_000382.3(ALDH3A2):c.602T>A (p.Leu201Gln)	not provided [RCV003008232]	uncertain significance	17	19656496	19656496	Human		name
156189132	CV2289155	single nucleotide variant	NM_000382.3(ALDH3A2):c.956C>T (p.Thr319Ile)	Inborn genetic diseases [RCV002874134]	uncertain significance	17	19663348	19663348	Human	1	name
155942883	CV2298343	single nucleotide variant	NM_000382.3(ALDH3A2):c.608C>T (p.Pro203Leu)	Inborn genetic diseases [RCV002879871]	uncertain significance	17	19656502	19656502	Human	1	name
156160806	CV2371307	single nucleotide variant	NM_000382.3(ALDH3A2):c.947C>T (p.Thr316Ile)	Inborn genetic diseases [RCV002698247]	uncertain significance	17	19663339	19663339	Human	1	name
243050586	CV2403884	single nucleotide variant	NM_000382.3(ALDH3A2):c.993A>C (p.Glu331Asp)	Sjögren-Larsson syndrome [RCV003128555]	uncertain significance	17	19663385	19663385	Human	1	name
243057645	CV2412191	single nucleotide variant	NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu)	Sjögren-Larsson syndrome [RCV003146205]	likely pathogenic	17	19651734	19651734	Human	1	name
11559944	CV260160	single nucleotide variant	NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)	Sjögren-Larsson syndrome [RCV000316840]\|not provided [RCV000255332]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	19656423	19656423	Human	1	name
11560024	CV260161	single nucleotide variant	NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)	Sjögren-Larsson syndrome [RCV000663418]\|not provided [RCV000255515]	pathogenic\|likely pathogenic	17	19657797	19657797	Human	1	name
401874892	CV2781346	single nucleotide variant	NM_000382.3(ALDH3A2):c.572A>C (p.Lys191Thr)	Inborn genetic diseases [RCV003362473]	uncertain significance	17	19656466	19656466	Human	1	name
401911799	CV2795905	single nucleotide variant	NM_000382.3(ALDH3A2):c.307G>C (p.Gly103Arg)	ALDH3A2-related disorder [RCV003399644]\|Inborn genetic diseases [RCV004621777]	uncertain significance	17	19651700	19651700	Human	2	name , trait , alternate_id
405210888	CV2920795	duplication	NM_000382.3(ALDH3A2):c.1356dup (p.Phe453fs)	not provided [RCV003567057]	pathogenic	17	19671865	19671866	Human		name
405153771	CV2950506	deletion	NM_000382.3(ALDH3A2):c.1285del (p.Ser429fs)	not provided [RCV003670142]	pathogenic	17	19671794	19671794	Human		name
405193144	CV2985713	single nucleotide variant	NM_000382.3(ALDH3A2):c.806A>G (p.Tyr269Cys)	not provided [RCV003706652]	likely pathogenic	17	19661134	19661134	Human		name
404981892	CV2986329	duplication	NM_000382.3(ALDH3A2):c.1103dup (p.His368fs)	not provided [RCV003691345]	pathogenic	17	19663494	19663495	Human		name
405782463	CV3267484	single nucleotide variant	NM_000382.3(ALDH3A2):c.895A>G (p.Lys299Glu)	Inborn genetic diseases [RCV004397858]	uncertain significance	17	19661223	19661223	Human	1	name
405805342	CV3271306	single nucleotide variant	NM_000382.3(ALDH3A2):c.659G>C (p.Cys220Ser)	Inborn genetic diseases [RCV004405367]	uncertain significance	17	19656553	19656553	Human	1	name
11622038	CV327661	single nucleotide variant	NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)	Sjögren-Larsson syndrome [RCV000355237]\|not provided [RCV000514073]\|not specified [RCV001805021]	benign\|likely benign	17	19656457	19656457	Human	1	name
11612834	CV327665	single nucleotide variant	NM_000382.3(ALDH3A2):c.566T>C (p.Val189Ala)	Sjögren-Larsson syndrome [RCV000262843]	uncertain significance	17	19656460	19656460	Human	1	name
11655941	CV327671	single nucleotide variant	NM_000382.3(ALDH3A2):c.680G>A (p.Arg227Lys)	Sjögren-Larsson syndrome [RCV000329724]	uncertain significance	17	19656574	19656574	Human	1	name
407428379	CV3410189	single nucleotide variant	NM_000382.3(ALDH3A2):c.551C>G (p.Thr184Arg)	Sjögren-Larsson syndrome [RCV004587796]	pathogenic\|likely pathogenic	17	19656445	19656445	Human	1	name
407477231	CV3495080	single nucleotide variant	NM_000382.3(ALDH3A2):c.984G>C (p.Met328Ile)	not specified [RCV004690982]	uncertain significance	17	19663376	19663376	Human		name
407573511	CV3499313	single nucleotide variant	NM_000382.3(ALDH3A2):c.362C>T (p.Pro121Leu)	Sjögren-Larsson syndrome [RCV004701207]	likely pathogenic	17	19651755	19651755	Human	1	name
408384033	CV3525889	single nucleotide variant	NM_000382.3(ALDH3A2):c.835T>G (p.Tyr279Asp)	not specified [RCV004766799]	uncertain significance	17	19661163	19661163	Human		name
12740513	CV358409	duplication	NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)	Sjögren-Larsson syndrome [RCV000412202]	likely pathogenic	17	19671814	19671815	Human	1	name
597679345	CV3688042	single nucleotide variant	NM_000382.3(ALDH3A2):c.845T>C (p.Ile282Thr)	Inborn genetic diseases [RCV004982464]	uncertain significance	17	19661173	19661173	Human	1	name
597679361	CV3688049	single nucleotide variant	NM_000382.3(ALDH3A2):c.511A>G (p.Thr171Ala)	Inborn genetic diseases [RCV004982467]	uncertain significance	17	19656405	19656405	Human	1	name
616933739	CV4011702	single nucleotide variant	NM_000382.3(ALDH3A2):c.992A>C (p.Glu331Ala)	not specified [RCV005408251]	uncertain significance	17	19663384	19663384	Human		name
12912604	CV422152	single nucleotide variant	NM_000382.3(ALDH3A2):c.835T>A (p.Tyr279Asn)	not provided [RCV000492791]	pathogenic\|likely pathogenic	17	19661163	19661163	Human		name
13435126	CV431885	single nucleotide variant	NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu)	Sjögren-Larsson syndrome [RCV000504979]	pathogenic	17	19656525	19656525	Human	1	name
13521982	CV488337	single nucleotide variant	NM_000382.3(ALDH3A2):c.326G>A (p.Gly109Glu)	not provided [RCV000591156]	uncertain significance	17	19651719	19651719	Human		name
13528310	CV513368	single nucleotide variant	NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)	Sjögren-Larsson syndrome [RCV000625950]	pathogenic\|likely pathogenic	17	19661236	19661236	Human	1	name
13705254	CV536484	single nucleotide variant	NM_000382.3(ALDH3A2):c.480T>G (p.Tyr160Ter)	not provided [RCV000657567]	pathogenic	17	19656374	19656374	Human		name
13791294	CV548003	single nucleotide variant	NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)	Sjögren-Larsson syndrome [RCV000667299]	uncertain significance	17	19663376	19663376	Human	1	name
13791156	CV548011	duplication	NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)	Sjögren-Larsson syndrome [RCV000667144]	uncertain significance	17	19671825	19671826	Human	1	name
13786118	CV548031	single nucleotide variant	NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)	Sjögren-Larsson syndrome [RCV000672596]\|not provided [RCV001383429]	pathogenic\|likely pathogenic	17	19657746	19657746	Human	1	name
13789609	CV548039	deletion	NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)	Sjögren-Larsson syndrome [RCV000666076]	likely pathogenic	17	19671724	19671724	Human	1	name
13785904	CV548288	duplication	NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)	Sjögren-Larsson syndrome [RCV000672357]	likely pathogenic	17	19671766	19671767	Human	1	name
13827503	CV578538	single nucleotide variant	NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)	Sjögren-Larsson syndrome [RCV000714555]	uncertain significance	17	19661260	19661260	Human	1	name
14396518	CV612318	single nucleotide variant	NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)	Sjögren-Larsson syndrome [RCV000761416]	pathogenic	17	19661165	19661165	Human	1	name
14689464	CV620576	single nucleotide variant	NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)	Sjögren-Larsson syndrome [RCV000778493]\|not provided [RCV001377682]	pathogenic\|likely pathogenic	17	19657774	19657774	Human	1	name
14710735	CV645400	single nucleotide variant	NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His)	Sjögren-Larsson syndrome [RCV001334407]\|not provided [RCV000809699]	pathogenic\|uncertain significance	17	19657747	19657747	Human	1	name
15144959	CV771312	single nucleotide variant	NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly)	Inborn genetic diseases [RCV002545977]\|Sjögren-Larsson syndrome [RCV001124550]\|not provided [RCV000944501]	likely benign\|uncertain significance	17	19663381	19663381	Human	2	name
21072279	CV792803	single nucleotide variant	NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter)	Sjögren-Larsson syndrome [RCV000991399]\|not provided [RCV002264991]	pathogenic\|likely pathogenic	17	19657841	19657841	Human	1	name
28898134	CV877002	single nucleotide variant	NM_000382.3(ALDH3A2):c.401T>C (p.Ile134Thr)	Sjögren-Larsson syndrome [RCV001123460]	uncertain significance	17	19652562	19652562	Human	1	name
28900892	CV877003	single nucleotide variant	NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn)	Inborn genetic diseases [RCV003163282]\|Sjögren-Larsson syndrome [RCV001124549]\|not provided [RCV001485162]	likely benign\|uncertain significance	17	19663370	19663370	Human	2	name
40888793	CV972262	single nucleotide variant	NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)	Sjögren-Larsson syndrome [RCV001263811]	likely pathogenic	17	19652625	19652625	Human	1	name
40888794	CV972263	single nucleotide variant	NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)	Sjögren-Larsson syndrome [RCV001263812]	likely pathogenic	17	19656465	19656465	Human	1	name
40888795	CV972264	single nucleotide variant	NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)	Sjögren-Larsson syndrome [RCV001263813]	likely pathogenic	17	19656546	19656546	Human	1	name
40888796	CV972265	single nucleotide variant	NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)	Sjögren-Larsson syndrome [RCV001263814]	likely pathogenic	17	19657824	19657824	Human	1	name
40888959	CV972266	single nucleotide variant	NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)	Sjögren-Larsson syndrome [RCV001263978]	likely pathogenic	17	19657848	19657848	Human	1	name
40888960	CV972267	single nucleotide variant	NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter)	Sjögren-Larsson syndrome [RCV001263979]\|not provided [RCV003770372]	pathogenic\|likely pathogenic	17	19661127	19661127	Human	1	name
40904878	CV979886	single nucleotide variant	NM_000382.3(ALDH3A2):c.352A>G (p.Thr118Ala)	Sjögren-Larsson syndrome [RCV001277950]\|not specified [RCV004800955]	uncertain significance	17	19651745	19651745	Human	1	name
126766252	CV997376	single nucleotide variant	NM_000382.3(ALDH3A2):c.919G>A (p.Asp307Asn)	Sjögren-Larsson syndrome [RCV001830184]\|not provided [RCV001301811]	uncertain significance	17	19661247	19661247	Human	1	name
127250078	CV1063875	single nucleotide variant	NM_000382.3(ALDH3A2):c.1264C>T (p.Gln422Ter)	not provided [RCV001385233]	pathogenic	17	19671777	19671777	Human		name
127257500	CV1082803	single nucleotide variant	NM_000382.3(ALDH3A2):c.1412T>C (p.Phe471Ser)	Inborn genetic diseases [RCV002552731]\|Sjögren-Larsson syndrome [RCV005361599]\|not provided [RCV001401476]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	19671925	19671925	Human	2	name
127268783	CV1104597	single nucleotide variant	NM_000382.3(ALDH3A2):c.1048A>C (p.Asn350His)	not provided [RCV001430084]	likely benign	17	19663440	19663440	Human		name
150332168	CV1163730	single nucleotide variant	NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)	Sjögren-Larsson syndrome [RCV001528111]	pathogenic	17	19663395	19663395	Human	1	name
151728371	CV1335173	single nucleotide variant	NM_000382.3(ALDH3A2):c.1393G>A (p.Gly465Ser)	not provided [RCV002543302]\|not specified [RCV001844492]	uncertain significance	17	19671906	19671906	Human		name
151826451	CV1400447	single nucleotide variant	NM_000382.3(ALDH3A2):c.1406T>A (p.Leu469His)	not provided [RCV001976226]	uncertain significance	17	19671919	19671919	Human		name
151858715	CV1406441	single nucleotide variant	NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His)	Sjögren-Larsson syndrome [RCV003230721]\|not provided [RCV001958936]	pathogenic\|likely pathogenic	17	19671781	19671781	Human	1	name
151747750	CV1445861	single nucleotide variant	NM_000382.3(ALDH3A2):c.1093T>C (p.Ser365Pro)	not provided [RCV002042932]	likely pathogenic	17	19663485	19663485	Human		name
151749601	CV1460636	single nucleotide variant	NM_000382.3(ALDH3A2):c.1220T>A (p.Met407Lys)	not provided [RCV001894197]	uncertain significance	17	19671733	19671733	Human		name
151884836	CV1494196	single nucleotide variant	NM_000382.3(ALDH3A2):c.1178C>T (p.Thr393Met)	not provided [RCV001962418]	uncertain significance	17	19665018	19665018	Human		name
152095140	CV1661599	single nucleotide variant	NM_000382.3(ALDH3A2):c.1047A>G (p.Ile349Met)	Inborn genetic diseases [RCV002551325]\|not provided [RCV002172348]	likely benign\|uncertain significance	17	19663439	19663439	Human	1	name
8556367	CV16683	single nucleotide variant	NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)	Sjögren-Larsson syndrome [RCV000001711]\|not provided [RCV000793431]	pathogenic\|likely pathogenic	17	19664997	19664997	Human	1	name
156343988	CV1871550	single nucleotide variant	NM_000382.3(ALDH3A2):c.1234G>A (p.Gly412Arg)	not provided [RCV003064408]\|not specified [RCV004765641]	uncertain significance	17	19671747	19671747	Human		name
156022360	CV1882445	single nucleotide variant	NM_000382.3(ALDH3A2):c.1372C>T (p.Arg458Trp)	not provided [RCV003077685]	uncertain significance	17	19671885	19671885	Human		name
156409992	CV1891882	single nucleotide variant	NM_000382.3(ALDH3A2):c.1266G>C (p.Gln422His)	not provided [RCV003071893]	uncertain significance	17	19671779	19671779	Human		name
156298629	CV1924271	single nucleotide variant	NM_000382.3(ALDH3A2):c.1117C>T (p.Arg373Trp)	not provided [RCV002629134]	uncertain significance	17	19664957	19664957	Human		name
156127936	CV1927363	single nucleotide variant	NM_000382.3(ALDH3A2):c.1162G>A (p.Val388Ile)	not provided [RCV002640595]	uncertain significance	17	19665002	19665002	Human		name
156396082	CV1943913	single nucleotide variant	NM_000382.3(ALDH3A2):c.1147G>A (p.Val383Ile)	Inborn genetic diseases [RCV002944808]\|not provided [RCV003108198]	uncertain significance	17	19664987	19664987	Human	1	name
156156550	CV2314384	single nucleotide variant	NM_000382.3(ALDH3A2):c.1271C>T (p.Pro424Leu)	Inborn genetic diseases [RCV002915714]	uncertain significance	17	19671784	19671784	Human	1	name
156051518	CV2323349	single nucleotide variant	NM_000382.3(ALDH3A2):c.1079C>T (p.Ala360Val)	Inborn genetic diseases [RCV002924492]	uncertain significance	17	19663471	19663471	Human	1	name
329953356	CV2668329	single nucleotide variant	NM_000382.3(ALDH3A2):c.1097A>G (p.His366Arg)	not provided [RCV003229982]	uncertain significance	17	19663489	19663489	Human		name
11580851	CV267970	single nucleotide variant	NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)	ALDH3A2-related disorder [RCV003930084]\|Sjögren-Larsson syndrome [RCV000346445]\|not provided [RCV000676617]\|not specified [RCV000259377]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	19671783	19671783	Human	1	name , trait , alternate_id
401861778	CV2756679	single nucleotide variant	NM_000382.3(ALDH3A2):c.1384G>A (p.Glu462Lys)	Inborn genetic diseases [RCV003342846]	uncertain significance	17	19671897	19671897	Human	1	name
401905130	CV2800474	single nucleotide variant	NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)	ALDH3A2-related disorder [RCV003420747]\|not specified [RCV003491377]	likely pathogenic\|uncertain significance	17	19671852	19671852	Human	1	name , trait , alternate_id
405096258	CV2944120	single nucleotide variant	NM_000382.3(ALDH3A2):c.1349G>A (p.Trp450Ter)	not provided [RCV003665671]	pathogenic	17	19671862	19671862	Human		name
405701509	CV3225996	single nucleotide variant	NM_000382.3(ALDH3A2):c.1350G>A (p.Trp450Ter)	Sjögren-Larsson syndrome [RCV003989438]	likely pathogenic	17	19671863	19671863	Human	1	name
405805098	CV3271273	single nucleotide variant	NM_000382.3(ALDH3A2):c.1087G>A (p.Val363Ile)	Inborn genetic diseases [RCV004405334]	likely benign	17	19663479	19663479	Human	1	name
405805105	CV3271277	single nucleotide variant	NM_000382.3(ALDH3A2):c.1118G>A (p.Arg373Gln)	Inborn genetic diseases [RCV004405338]	uncertain significance	17	19664958	19664958	Human	1	name
405805109	CV3271279	single nucleotide variant	NM_000382.3(ALDH3A2):c.1221G>T (p.Met407Ile)	Inborn genetic diseases [RCV004405340]	uncertain significance	17	19671734	19671734	Human	1	name
405805111	CV3271280	single nucleotide variant	NM_000382.3(ALDH3A2):c.1226C>G (p.Ala409Gly)	Inborn genetic diseases [RCV004405341]	uncertain significance	17	19671739	19671739	Human	1	name
11624032	CV337461	single nucleotide variant	NM_000382.3(ALDH3A2):c.1021C>G (p.Pro341Ala)	Sjögren-Larsson syndrome [RCV000380994]\|not provided [RCV000430478]	uncertain significance	17	19663413	19663413	Human	1	name
407451322	CV3495278	single nucleotide variant	NM_000382.3(ALDH3A2):c.1198G>A (p.Gly400Arg)	Sjögren-Larsson syndrome [RCV004689555]	pathogenic\|likely pathogenic	17	19665038	19665038	Human	1	name
596933020	CV3539649	single nucleotide variant	NM_000382.3(ALDH3A2):c.1064G>A (p.Arg355His)	not provided [RCV004794274]	uncertain significance	17	19663456	19663456	Human		name
12738671	CV358405	single nucleotide variant	NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)	Sjögren-Larsson syndrome [RCV000410901]\|not provided [RCV001216194]	pathogenic\|likely pathogenic	17	19663486	19663486	Human	1	name
597760428	CV3712286	indel	NM_000382.3(ALDH3A2):c.5_6delinsC (p.Glu2fs)	Sjögren-Larsson syndrome [RCV005018081]	likely pathogenic	17	19648976	19648977	Human		name
12834619	CV374883	single nucleotide variant	NM_000382.3(ALDH3A2):c.1144G>A (p.Gly382Ser)	Sjögren-Larsson syndrome [RCV001828441]\|not provided [RCV000420258]	uncertain significance	17	19664984	19664984	Human	1	name
12849871	CV374885	single nucleotide variant	NM_000382.3(ALDH3A2):c.1202G>A (p.Gly401Glu)	not provided [RCV000437687]\|not specified [RCV003387841]	pathogenic\|uncertain significance	17	19665042	19665042	Human		name
597861045	CV3880771	single nucleotide variant	NM_000382.3(ALDH3A2):c.1320T>A (p.Tyr440Ter)	Sjögren-Larsson syndrome [RCV005229605]	pathogenic	17	19671833	19671833	Human	1	name
598230167	CV3970115	single nucleotide variant	NM_000382.3(ALDH3A2):c.1015A>G (p.Ile339Val)	Inborn genetic diseases [RCV005342202]	uncertain significance	17	19663407	19663407	Human	1	name
13211921	CV426209	single nucleotide variant	NM_000382.3(ALDH3A2):c.1069A>T (p.Lys357Ter)	not provided [RCV000498098]	likely pathogenic	17	19663461	19663461	Human		name
13517509	CV487677	indel	NM_000382.2(ALDH3A2):c.153+5_386-408delins19	Sjögren-Larsson syndrome [RCV000589817]	pathogenic	17	19649129	19652139	Human		name
13523505	CV491487	single nucleotide variant	NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys)	not provided [RCV000593090]	conflicting interpretations of pathogenicity\|uncertain significance	17	19671780	19671780	Human		name
13791926	CV548007	single nucleotide variant	NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)	Sjögren-Larsson syndrome [RCV000668072]	likely pathogenic	17	19671790	19671790	Human	1	name
13791963	CV548764	single nucleotide variant	NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)	Sjögren-Larsson syndrome [RCV000668120]	likely pathogenic	17	19671880	19671880	Human	1	name
14392933	CV610422	single nucleotide variant	NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter)	Sjögren-Larsson syndrome [RCV000757940]\|not provided [RCV000760414]	pathogenic	17	19671822	19671822	Human	1	name
15129420	CV771315	single nucleotide variant	NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln)	Sjögren-Larsson syndrome [RCV001125560]\|not provided [RCV000941879]	likely benign	17	19671886	19671886	Human	1	name
21075594	CV797508	single nucleotide variant	NM_000382.3(ALDH3A2):c.1189T>C (p.Phe397Leu)	not provided [RCV000996509]	uncertain significance	17	19665029	19665029	Human		name
40888961	CV972268	single nucleotide variant	NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)	Sjögren-Larsson syndrome [RCV001263980]	likely pathogenic	17	19663392	19663392	Human	1	name
40888962	CV972269	single nucleotide variant	NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)	Sjögren-Larsson syndrome [RCV001263981]	likely pathogenic	17	19664981	19664981	Human	1	name
127261992	CV1063868	deletion	NM_000382.3(ALDH3A2):c.286_296del (p.Tyr96fs)	Sjögren-Larsson syndrome [RCV005014522]\|not provided [RCV001380617]	pathogenic	17	19651676	19651686	Human	1	name
152167710	CV1644804	insertion	NM_000382.3(ALDH3A2):c.1207+7_1207+8insCTCCAA	not provided [RCV002142226]	likely benign	17	19665054	19665055	Human		name
152980879	CV1676195	microsatellite	NM_000382.3(ALDH3A2):c.1443+1274_1443+1275del	Sjögren-Larsson syndrome [RCV002245271]	uncertain significance	17	19673227	19673228	Human		name
155736951	CV1784133	deletion	NM_000382.3(ALDH3A2):c.253_254del (p.Lys85fs)	Sjögren-Larsson syndrome [RCV002310290]	likely pathogenic	17	19651646	19651647	Human	1	name
12739439	CV358394	deletion	NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs)	Sjögren-Larsson syndrome [RCV000409622]\|not provided [RCV001861398]	pathogenic\|likely pathogenic	17	19649122	19649123	Human	1	name
13784234	CV548760	microsatellite	NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)	Sjögren-Larsson syndrome [RCV000670669]	uncertain significance	17	19651646	19651648	Human		name
127273965	CV1063872	deletion	NM_000382.3(ALDH3A2):c.821_822del (p.Lys274fs)	not provided [RCV001390963]	pathogenic	17	19661147	19661148	Human		name
150544346	CV1313289	deletion	NM_000382.3(ALDH3A2):c.639_640del (p.Cys214fs)	Sjögren-Larsson syndrome [RCV001783360]	pathogenic	17	19656533	19656534	Human	1	name
155724142	CV1781743	deletion	NM_000382.3(ALDH3A2):c.522_523del (p.Lys175fs)	Sjögren-Larsson syndrome [RCV002306771]	likely pathogenic	17	19656416	19656417	Human	1	name
155724232	CV1781763	deletion	NM_000382.3(ALDH3A2):c.653_654del (p.Lys218fs)	Sjögren-Larsson syndrome [RCV002306791]\|not provided [RCV003718475]	pathogenic\|likely pathogenic	17	19656546	19656547	Human	1	name
155735554	CV1783088	deletion	NM_000382.3(ALDH3A2):c.420_426del (p.Ser140fs)	Sjögren-Larsson syndrome [RCV002309245]	likely pathogenic	17	19652581	19652587	Human	1	name
11560208	CV260158	deletion	NM_000382.3(ALDH3A2):c.374_378del (p.Ala125fs)	Sjögren-Larsson syndrome [RCV003226269]\|not provided [RCV000255939]	pathogenic	17	19651767	19651771	Human	1	name
12740318	CV358404	microsatellite	NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs)	Sjögren-Larsson syndrome [RCV000411692]\|not provided [RCV001861378]	pathogenic\|likely pathogenic	17	19661150	19661151	Human		name
13791792	CV548763	microsatellite	NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del)	Sjögren-Larsson syndrome [RCV000667906]\|not provided [RCV001868219]	uncertain significance	17	19663378	19663380	Human		name
13435217	CV431884	deletion	NM_000382.3(ALDH3A2):c.371_373del (p.Gly124del)	Sjögren-Larsson syndrome [RCV000505168]	pathogenic	17	19651762	19651764	Human	1	name
150544336	CV1313283	microsatellite	NM_000382.3(ALDH3A2):c.1187_1188del (p.Ser396fs)	Sjögren-Larsson syndrome [RCV001783354]\|not provided [RCV002541147]	pathogenic	17	19665025	19665026	Human		name
151869734	CV1457164	deletion	NM_000382.3(ALDH3A2):c.1108_1111del (p.Leu370fs)	not provided [RCV001906314]	pathogenic	17	19664948	19664951	Human		name
151876148	CV1483376	deletion	NM_000382.3(ALDH3A2):c.1087_1090del (p.Val363fs)	not provided [RCV001907087]	pathogenic	17	19663476	19663479	Human		name
8556364	CV16680	microsatellite	NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)	Sjögren-Larsson syndrome [RCV000001708]\|not provided [RCV000413153]	pathogenic	17	19671805	19671806	Human		name
8556365	CV16681	duplication	NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)	Sjögren-Larsson syndrome [RCV000001709]\|not provided [RCV000676619]	pathogenic\|likely pathogenic	17	19671818	19671819	Human	1	name
155735939	CV1783351	deletion	NM_000382.3(ALDH3A2):c.1023_1026del (p.Val342fs)	Sjögren-Larsson syndrome [RCV002309508]	likely pathogenic	17	19663415	19663418	Human	1	name
405230051	CV2977389	deletion	NM_000382.3(ALDH3A2):c.1189_1190del (p.Phe397fs)	not provided [RCV003711320]	pathogenic	17	19665028	19665029	Human		name
13517444	CV487679	deletion	NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs)	Sjögren-Larsson syndrome [RCV000588137]\|not provided [RCV001867905]	pathogenic	17	19671803	19671804	Human	1	name
405010994	CV2987203	insertion	NM_000382.3(ALDH3A2):c.113_114insTCGC (p.Glu38fs)	not provided [RCV003693915]	pathogenic	17	19649084	19649085	Human		name
405020352	CV2866284	insertion	NM_000382.3(ALDH3A2):c.399_400insTTTT (p.Ile134fs)	not provided [RCV003577519]	pathogenic	17	19652558	19652559	Human		name
405052798	CV3022243	insertion	NM_000382.3(ALDH3A2):c.1103_1104insGG (p.His368fs)	not provided [RCV003697125]	pathogenic	17	19663495	19663496	Human		name
13787385	CV548769	indel	NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG	Sjögren-Larsson syndrome [RCV000664811]	uncertain significance	17	19673229	19673231	Human		name
10041626	CV186959	indel	NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)	Sjögren-Larsson syndrome [RCV000169619]	pathogenic\|likely pathogenic	17	19661229	19661231	Human		name
127251696	CV1063874	microsatellite	NM_000382.3(ALDH3A2):c.941-1_941insGGGCTAAAAGTACTGTTG	not provided [RCV001385551]	pathogenic	17	19663331	19663332	Human		name
401932080	CV2799090	deletion	NM_000382.3(ALDH3A2):c.520del (p.Leu173_Leu174insTer)	ALDH3A2-related disorder [RCV003408608]	likely pathogenic	17	19656413	19656413	Human		name , trait , alternate_id
13786220	CV547988	deletion	NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer)	Sjögren-Larsson syndrome [RCV000672658]\|not provided [RCV001389045]	pathogenic\|likely pathogenic	17	19651757	19651757	Human	1	name
13787093	CV548761	deletion	NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)	Sjögren-Larsson syndrome [RCV000673274]\|not provided [RCV001385894]	pathogenic\|likely pathogenic	17	19663370	19663370	Human	1	name
13789114	CV550063	indel	NM_000382.3(ALDH3A2):c.943delinsTGTTGGGG (p.Pro315fs)	not provided [RCV000676615]	likely pathogenic	17	19663335	19663335	Human		name
13791423	CV548290	deletion	NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)	Sjögren-Larsson syndrome [RCV000667443]	likely pathogenic	17	19671879	19671879	Human	1	name
13789110	CV550062	insertion	NM_000382.3(ALDH3A2):c.941_942insTAAAAGTA (p.Pro315fs)	not provided [RCV000676614]	likely pathogenic	17	19663333	19663334	Human		name
155736475	CV1782175	indel	NM_000382.3(ALDH3A2):c.257_259delinsCACTCAGC (p.Lys86fs)	Sjögren-Larsson syndrome [RCV002309916]	likely pathogenic	17	19651650	19651652	Human		name
38495105	CV958009	indel	NM_000382.3(ALDH3A2):c.901_909delinsCCTTTGGG (p.Ala301fs)	not provided [RCV001241735]	pathogenic	17	19661229	19661237	Human		name
156437726	CV1947741	indel	NM_000382.3(ALDH3A2):c.1303_1314delinsAGTTGGG (p.Ala435fs)	not provided [RCV003107268]	pathogenic	17	19671816	19671827	Human		name
8556361	CV16677	indel	NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)	Cerebral palsy [RCV001794427]\|Inborn genetic diseases [RCV005338070]\|Sjögren-Larsson syndrome [RCV000001705]	pathogenic	17	19663333	19663335	Human		name

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