ClinVar for MedGen (Select 11443) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340051	NM_000382.3(ALDH3A2):c.362C>T (p.Pro121Leu)	ALDH3A2 (P121L)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3338952	NM_000382.3(ALDH3A2):c.142G>T (p.Asp48Tyr)	ALDH3A2 (D48Y)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3336603	NM_000382.3(ALDH3A2):c.1198G>A (p.Gly400Arg)	ALDH3A2 (G207R +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3251390	NM_000382.3(ALDH3A2):c.551C>G (p.Thr184Arg)	ALDH3A2 (T184R)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome	GPathogenic
Select item 3239679	NM_000382.3(ALDH3A2):c.901del (p.Ala301fs)	ALDH3A2 (A108fs +1 more)	Deletion (frameshift variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3233377	NM_000382.3(ALDH3A2):c.385+1G>C	ALDH3A2	Single nucleotide variant (splice donor variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3065983	NM_000382.3(ALDH3A2):c.1350G>A (p.Trp450Ter)	ALDH3A2 (W257* +1 more)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 2582586	NM_000382.3(ALDH3A2):c.681-14T>A	ALDH3A2	Single nucleotide variant (intron variant)	Sjögren-Larsson syndrome +1 more	GLikely pathogenic
Select item 2445728	NM_000382.3(ALDH3A2):c.681-1G>A	ALDH3A2	Single nucleotide variant (splice acceptor variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 2440904	NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu)	ALDH3A2 (P114L)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 2430377	NM_000382.3(ALDH3A2):c.993A>C (p.Glu331Asp)	ALDH3A2 (E138D +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 1878545	NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs)	ALDH3A2 (L262fs +1 more)	Duplication (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1878338	NM_000382.3(ALDH3A2):c.680+1G>A	ALDH3A2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726606	NM_000382.3(ALDH3A2):c.253_254del (p.Lys85fs)	ALDH3A2 (K85fs)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1725828	NM_000382.3(ALDH3A2):c.1096del (p.His366fs)	ALDH3A2 (H173fs +1 more)	Deletion (frameshift variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1725824	NM_000382.3(ALDH3A2):c.1023_1026del (p.Val342fs)	ALDH3A2 (V149fs +1 more)	Deletion (frameshift variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1725561	NM_000382.3(ALDH3A2):c.420_426del (p.Ser140fs)	ALDH3A2 (S140fs)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1725338	NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter)	ALDH3A2 (C241* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1724648	NM_000382.3(ALDH3A2):c.257_259delinsCACTCAGC (p.Lys86fs)	ALDH3A2 (K86fs)	Indel (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1724236	NM_000382.3(ALDH3A2):c.653_654del (p.Lys218fs)	ALDH3A2 (K218fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1724216	NM_000382.3(ALDH3A2):c.522_523del (p.Lys175fs)	ALDH3A2 (K175fs)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1723933	NM_000382.3(ALDH3A2):c.913G>T (p.Glu305Ter)	ALDH3A2 (E112* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1685517	NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)	ALDH3A2 (P10fs +1 more)	Deletion (frameshift variant)	Sjögren-Larsson syndrome	GPathogenic
Select item 1684265	NM_000382.3(ALDH3A2):c.1443+1274_1443+1275del	ALDH3A2 (R508fs)	Microsatellite (frameshift variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 1679833	NM_000382.3(ALDH3A2):c.620A>C (p.Glu207Ala)	ALDH3A2 (E14A +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 1459314	NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His)	ALDH3A2 (R230H +1 more)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1426070	NM_000382.3(ALDH3A2):c.65T>C (p.Phe22Ser)	ALDH3A2 (F22S)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome +1 more	GUncertain significance
Select item 1323874	NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter)	ALDH3A2 (W259* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1322996	NM_000382.3(ALDH3A2):c.639_640del (p.Cys214fs)	ALDH3A2 (C214fs +1 more)	Deletion (frameshift variant)	Sjögren-Larsson syndrome	GPathogenic
Select item 1322990	NM_000382.3(ALDH3A2):c.1187_1188del (p.Ser396fs)	ALDH3A2 (S203fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1188867	NM_000382.3(ALDH3A2):c.1207+130del	ALDH3A2	Deletion (intron variant)	Sjögren-Larsson syndrome +1 more	GBenign
Select item 1188866	NM_000382.3(ALDH3A2):c.681-37_681-30del	ALDH3A2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1184631	NM_000382.3(ALDH3A2):c.940+53C>G	ALDH3A2	Single nucleotide variant (intron variant)	Sjögren-Larsson syndrome +1 more	GBenign/Likely benign
Select item 1184630	NM_000382.3(ALDH3A2):c.472-56G>A	ALDH3A2	Single nucleotide variant (intron variant)	Sjögren-Larsson syndrome +1 more	GBenign
Select item 1184629	NM_000382.3(ALDH3A2):c.471+31T>C	ALDH3A2	Single nucleotide variant (intron variant)	Sjögren-Larsson syndrome +1 more	GBenign
Select item 1184628	NM_000382.3(ALDH3A2):c.153+39C>T	ALDH3A2	Single nucleotide variant (intron variant)	Sjögren-Larsson syndrome +1 more	GBenign
Select item 1174486	NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)	ALDH3A2 (P142S +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome	GPathogenic
Select item 1162200	NM_000382.3(ALDH3A2):c.126del (p.Thr43fs)	ALDH3A2 (T43fs)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1039352	NM_000382.3(ALDH3A2):c.832G>A (p.Asp278Asn)	ALDH3A2 (D85N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030755	NM_000382.3(ALDH3A2):c.605C>A (p.Thr202Asn)	ALDH3A2 (T202N +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 1027597	NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)	ALDH3A2 (Q35fs)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1005018	NM_000382.3(ALDH3A2):c.919G>A (p.Asp307Asn)	ALDH3A2 (D114N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996694	NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)	ALDH3A2 (E4*)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 990022	NM_000382.3(ALDH3A2):c.352A>G (p.Thr118Ala)	ALDH3A2 (T118A)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 983976	NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)	ALDH3A2 (G188* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 983975	NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)	ALDH3A2 (G141* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 983974	NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter)	ALDH3A2 (E267* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 983973	NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)	ALDH3A2 (K262* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 983811	NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)	ALDH3A2 (Q254* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 983810	NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)	ALDH3A2 (K218* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 983809	NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)	ALDH3A2 (K191*)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 983808	NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)	ALDH3A2 (L155*)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 977702	NM_000382.3(ALDH3A2):c.471+1G>C	ALDH3A2	Single nucleotide variant (splice donor variant)	Sjögren-Larsson syndrome	GPathogenic
Select item 891987	NM_000382.3(ALDH3A2):c.*630G>A	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 891986	NM_000382.3(ALDH3A2):c.*171A>G	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 891949	NM_000382.3(ALDH3A2):c.303T>C (p.Pro101=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 891948	NM_000382.3(ALDH3A2):c.287A>G (p.Tyr96Cys)	ALDH3A2 (Y96C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 891947	NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 891946	NM_000382.3(ALDH3A2):c.-11A>G	ALDH3A2	Single nucleotide variant (5 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 890793	NM_000382.3(ALDH3A2):c.*1930C>T	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 890792	NM_000382.3(ALDH3A2):c.*1721C>T	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 890791	NM_000382.3(ALDH3A2):c.*1656C>T	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 890790	NM_000382.3(ALDH3A2):c.*1628A>G	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 890751	NM_000382.3(ALDH3A2):c.1431T>A (p.Ala477=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 890750	NM_000382.3(ALDH3A2):c.1392C>T (p.Leu464=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 890700	NM_000382.3(ALDH3A2):c.-67C>T	ALDH3A2	Single nucleotide variant (5 prime UTR variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 890699	NM_000382.3(ALDH3A2):c.-215C>T	ALDH3A2, LOC130060466	Single nucleotide variant (5 prime UTR variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 890222	NM_000382.3(ALDH3A2):c.*1362G>A	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GBenign
Select item 890221	NM_000382.3(ALDH3A2):c.*1314T>C	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 890220	NM_000382.3(ALDH3A2):c.*1184A>G	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 890171	NM_000382.3(ALDH3A2):c.1347T>C (p.Asp449=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 890170	NM_000382.3(ALDH3A2):c.1254T>C (p.Thr418=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890169	NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn)	ALDH3A2 (K326N +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 889568	NM_000382.3(ALDH3A2):c.*1082G>A	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 889567	NM_000382.3(ALDH3A2):c.*847C>T	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GLikely benign
Select item 889566	NM_000382.3(ALDH3A2):c.*740G>C	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 889565	NM_000382.3(ALDH3A2):c.*730T>A	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 889564	NM_000382.3(ALDH3A2):c.*699A>G	ALDH3A2	Single nucleotide variant (3 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 889508	NM_000382.3(ALDH3A2):c.799-6A>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889507	NM_000382.3(ALDH3A2):c.401T>C (p.Ile134Thr)	ALDH3A2 (I134T)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 844940	NM_000382.3(ALDH3A2):c.385+2T>C	ALDH3A2	Single nucleotide variant (splice donor variant)	Sjögren-Larsson syndrome +1 more	GPathogenic
Select item 816625	NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter)	ALDH3A2 (S17*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 804419	NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter)	ALDH3A2 (W66* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 803334	NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)	ALDH3A2 (T316fs +1 more)	Deletion (frameshift variant)	Sjögren-Larsson syndrome	GPathogenic
Select item 798483	NM_000382.3(ALDH3A2):c.1032T>C (p.Asn344=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797594	NM_000382.3(ALDH3A2):c.378C>T (p.Ile126=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 766017	NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly)	ALDH3A2 (E137G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 763817	NM_000382.3(ALDH3A2):c.564G>A (p.Ala188=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 763621	NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln)	ALDH3A2 (R458Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 759754	NM_000382.3(ALDH3A2):c.114G>A (p.Glu38=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 756538	NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 753731	NM_000382.3(ALDH3A2):c.1179G>A (p.Thr393=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742836	NM_000382.3(ALDH3A2):c.345C>T (p.Phe115=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 733489	NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 728495	NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly)	ALDH3A2 (D40G)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 653859	NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His)	ALDH3A2 (R228H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 631767	NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)	ALDH3A2 (C237Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 623290	NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)	ALDH3A2 (Y279* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome	GPathogenic
Select item 619024	NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter)	ALDH3A2 (K437* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 587417	NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)	ALDH3A2 (R311L +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome	GUncertain significance

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