ALDH5A1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1555007	NM_001080.3(ALDH5A1):c.354+16T>G	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2821768	NM_001080.3(ALDH5A1):c.354+18C>T	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2916531	NM_001080.3(ALDH5A1):c.354+23_354+24dup	ALDH5A1	Duplication (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2037685	NM_001080.3(ALDH5A1):c.354+19A>G	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1274705	NM_001080.3(ALDH5A1):c.354+27A>G	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225624	NM_001080.3(ALDH5A1):c.354+63C>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196322	NM_001080.3(ALDH5A1):c.354+131G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182849	NM_001080.3(ALDH5A1):c.354+185T>G	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270317	NM_001080.3(ALDH5A1):c.355-267A>G	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275713	NM_001080.3(ALDH5A1):c.355-253T>G	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194334	NM_001080.3(ALDH5A1):c.355-200G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296592	NM_001080.3(ALDH5A1):c.355-172G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276646	NM_001080.3(ALDH5A1):c.355-72T>C	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2023681	NM_001080.3(ALDH5A1):c.355-20C>T	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2729869	NM_001080.3(ALDH5A1):c.355-19C>T	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2962944	NM_001080.3(ALDH5A1):c.355-18T>A	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2811555	NM_001080.3(ALDH5A1):c.355-16G>A	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 284326	NM_001080.3(ALDH5A1):c.355-9C>G	ALDH5A1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1090851	NM_001080.3(ALDH5A1):c.355-6T>C	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 434120	NM_001080.3(ALDH5A1):c.355-4G>C	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1026065	NM_001080.3(ALDH5A1):c.355-3C>T	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1396312	NM_001080.3(ALDH5A1):c.355G>A (p.Glu119Lys)	ALDH5A1 (E119K)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2980158	NM_001080.3(ALDH5A1):c.366A>G (p.Ser122=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1656804	NM_001080.3(ALDH5A1):c.367T>C (p.Leu123=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1878438	NM_001080.3(ALDH5A1):c.371T>G (p.Leu124Arg)	ALDH5A1 (L124R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 356129	NM_001080.3(ALDH5A1):c.373C>T (p.Arg125Trp)	ALDH5A1 (R125W)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2878027	NM_001080.3(ALDH5A1):c.374_375insTGGTACAATTTAATGATAC (p.Arg125_Lys126insGlyThrIleTer)	ALDH5A1	Insertion (nonsense +1 more)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1878439	NM_001080.3(ALDH5A1):c.375_378del (p.Lys126fs)	ALDH5A1 (K126fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1042110	NM_001080.3(ALDH5A1):c.374G>A (p.Arg125Gln)	ALDH5A1 (R125Q)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2878028	NM_001080.3(ALDH5A1):c.375G>A (p.Arg125=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2698474	NM_001080.3(ALDH5A1):c.375G>C (p.Arg125=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2576936	NM_001080.3(ALDH5A1):c.375delinsTGGTACAATTTAATGATACA (p.Arg125_Lys126insGlyThrIleTer)	ALDH5A1	Indel (nonsense +1 more)	not provided	GLikely pathogenic
Select item 838805	NM_001080.3(ALDH5A1):c.377A>G (p.Lys126Arg)	ALDH5A1 (K126R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1429807	NM_001080.3(ALDH5A1):c.379_380del (p.Trp127fs)	ALDH5A1 (W127fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 3236165	NM_001080.3(ALDH5A1):c.380G>A (p.Trp127Ter)	ALDH5A1 (W127*)	Single nucleotide variant (nonsense)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1878440	NM_001080.3(ALDH5A1):c.384C>G (p.Tyr128Ter)	ALDH5A1 (Y128*)	Single nucleotide variant (nonsense)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 2735963	NM_001080.3(ALDH5A1):c.388T>C (p.Leu130=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1923944	NM_001080.3(ALDH5A1):c.396A>T (p.Ile132=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 940067	NM_001080.3(ALDH5A1):c.397C>T (p.Gln133Ter)	ALDH5A1 (Q133*)	Single nucleotide variant (nonsense)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1581288	NM_001080.3(ALDH5A1):c.402T>C (p.Asn134=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1346442	NM_001080.3(ALDH5A1):c.410A>T (p.Asp137Val)	ALDH5A1 (D137V)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 665478	NM_001080.3(ALDH5A1):c.411C>A (p.Asp137Glu)	ALDH5A1 (D137E)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1878441	NM_001080.3(ALDH5A1):c.412C>T (p.Leu138Phe)	ALDH5A1 (L138F)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1878442	NM_001080.3(ALDH5A1):c.416C>A (p.Ala139Asp)	ALDH5A1 (A139D)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2772119	NM_001080.3(ALDH5A1):c.424del (p.Ile142fs)	ALDH5A1 (I142fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1350850	NM_001080.3(ALDH5A1):c.424_425del (p.Ile142fs)	ALDH5A1 (I142fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2506508	NM_001080.3(ALDH5A1):c.427del (p.Thr143fs)	ALDH5A1 (T143fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 1878443	NM_001080.3(ALDH5A1):c.431C>A (p.Ala144Asp)	ALDH5A1 (A144D)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 759722	NM_001080.3(ALDH5A1):c.432T>C (p.Ala144=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 3061206	NM_001080.3(ALDH5A1):c.434A>G (p.Glu145Gly)	ALDH5A1 (E145G)	Single nucleotide variant (missense variant)	ALDH5A1-related disorder	GUncertain significance
Select item 2136369	NM_001080.3(ALDH5A1):c.438+1G>A	ALDH5A1	Single nucleotide variant (splice donor variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2140294	NM_001080.3(ALDH5A1):c.438+11G>A	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1214055	NM_001080.3(ALDH5A1):c.439-287C>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246004	NM_001080.3(ALDH5A1):c.439-238del	ALDH5A1	Deletion (intron variant)	not provided	GBenign
Select item 2842590	NM_001080.3(ALDH5A1):c.439-18T>C	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2872462	NM_001080.3(ALDH5A1):c.439-13T>C	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1572023	NM_001080.3(ALDH5A1):c.439-11A>G	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1077633	NM_001080.3(ALDH5A1):c.439-7A>G	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1878445	NM_001080.3(ALDH5A1):c.455_456dup (p.Ala153fs)	ALDH5A1 (A153fs)	Duplication (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2506509	NM_001080.3(ALDH5A1):c.454G>C (p.Glu152Gln)	ALDH5A1 (E152Q)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1878446	NM_001080.3(ALDH5A1):c.461_474del (p.His154fs)	ALDH5A1 (H154fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1439685	NM_001080.3(ALDH5A1):c.460C>T (p.His154Tyr)	ALDH5A1 (H154Y)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 459987	NM_001080.3(ALDH5A1):c.461A>G (p.His154Arg)	ALDH5A1 (H154R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 529489	NM_001080.3(ALDH5A1):c.464G>A (p.Gly155Glu)	ALDH5A1 (G155E)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1878447	NM_001080.3(ALDH5A1):c.466G>A (p.Glu156Lys)	ALDH5A1 (E156K)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 1960067	NM_001080.3(ALDH5A1):c.474C>G (p.Leu158=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 3239375	NM_001080.3(ALDH5A1):c.476A>G (p.Tyr159Cys)	ALDH5A1 (Y159C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506507	NM_001080.3(ALDH5A1):c.479C>T (p.Ser160Phe)	ALDH5A1 (S160F)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 459988	NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GBenign/Likely benign
Select item 434121	NM_001080.3(ALDH5A1):c.480C>A (p.Ser160=)	ALDH5A1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1035732	NM_001080.3(ALDH5A1):c.481G>A (p.Ala161Thr)	ALDH5A1 (A161T)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GUncertain significance
Select item 529493	NM_001080.3(ALDH5A1):c.490C>T (p.Leu164=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1299017	NM_001080.3(ALDH5A1):c.496T>C (p.Trp166Arg)	ALDH5A1 (W166R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 817416	NM_001080.3(ALDH5A1):c.498del (p.Trp166fs)	ALDH5A1 (W166fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1339786	NM_001080.3(ALDH5A1):c.498G>T (p.Trp166Cys)	ALDH5A1 (W166C)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	Gnot provided
Select item 1299018	NM_001080.3(ALDH5A1):c.503_518del (p.Ser168fs)	ALDH5A1 (S168fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1302496	NM_001080.3(ALDH5A1):c.514C>G (p.Arg172Gly)	ALDH5A1 (R172G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004401	NM_001080.3(ALDH5A1):c.514C>T (p.Arg172Cys)	ALDH5A1 (R172C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 356130	NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His)	ALDH5A1 (R172H)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 1878448	NM_001080.3(ALDH5A1):c.517C>T (p.Arg173Cys)	ALDH5A1 (R173C)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 1335617	NM_001080.3(ALDH5A1):c.517C>A (p.Arg173Ser)	ALDH5A1 (R173S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004460	NM_001080.3(ALDH5A1):c.518G>C (p.Arg173Pro)	ALDH5A1 (R173P)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1355675	NM_001080.3(ALDH5A1):c.518G>T (p.Arg173Leu)	ALDH5A1 (R173L)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 907464	NM_001080.3(ALDH5A1):c.518G>A (p.Arg173His)	ALDH5A1 (R173H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2014184	NM_001080.3(ALDH5A1):c.523T>C (p.Tyr175His)	ALDH5A1 (Y175H)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 725408	NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 379247	NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg)	ALDH5A1 (G176R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1878449	NM_001080.3(ALDH5A1):c.527G>A (p.Gly176Glu)	ALDH5A1 (G176E)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 529475	NM_001080.3(ALDH5A1):c.532A>G (p.Ile178Val)	ALDH5A1 (I178V)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1045824	NM_001080.3(ALDH5A1):c.533T>C (p.Ile178Thr)	ALDH5A1 (I178T)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1127125	NM_001080.3(ALDH5A1):c.534T>A (p.Ile178=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 904147	NM_001080.3(ALDH5A1):c.535A>G (p.Ile179Val)	ALDH5A1 (I179V)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1878450	NM_001080.3(ALDH5A1):c.536T>A (p.Ile179Asn)	ALDH5A1 (I179N)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 128343	NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr)	ALDH5A1 (H180Y)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GBenign
Select item 2171157	NM_001080.3(ALDH5A1):c.539A>G (p.His180Arg)	ALDH5A1 (H180R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 946542	NM_001080.3(ALDH5A1):c.541A>G (p.Thr181Ala)	ALDH5A1 (T181A)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 529481	NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile)	ALDH5A1 (T181I)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1418452	NM_001080.3(ALDH5A1):c.544_545delinsGT (p.Pro182Val)	ALDH5A1 (P182V)	Indel (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 128344	NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu)	ALDH5A1 (P182L)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GBenign
Select item 1541461	NM_001080.3(ALDH5A1):c.546G>A (p.Pro182=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign

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