MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Amino Acid Metabolism, Inborn Errors (D000592)
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Developmental Disabilities (D002658)
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succinic semialdehyde dehydrogenase deficiency (C535803)

       Child Nodes:



 Sister Nodes: 
..expandAbuse dwarfism syndrome (C535569)
..expandAl Gazali Sabrinathan Nair syndrome (C535617)
..expandArginine:Glycine Amidinotransferase Deficiency (C567192)  LSDB  L: 00444;
..expandBagatelle Cassidy syndrome (C537796)
..expandBAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
..expandBRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY (OMIM:617412)
..expandCerebellar Hypoplasia (C562568)
..expandCEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
..expandChitayat Moore Del Bigio syndrome (C535927)
..expandChitty Hall Webb syndrome (C535929)
..expandChondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..expandCHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..expandChromosome 17p13.3 Duplication Syndrome (C567705)
..expandChromosome 3q29 Deletion Syndrome (C567184)
..expandChromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..expandCohen syndrome (C536438)
..expandCONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
..expandCONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
..expandCraniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandDESANTO-SHINAWI SYNDROME (OMIM:616708)
..expandDEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR (OMIM:616901)
..expandDYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)
..expandForebrain Defects (C566067)
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)
..expandFragile Site 16p12 (C565001)
..expandGLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
..expandGrowth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..expandHYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
..expandKEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..expandLAMB-SHAFFER SYNDROME (OMIM:616803)
..expandMalpuech facial clefting syndrome (C535704)
..expandMicrocephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMyopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)  LSDB  L: 00045;
..expandNon-lissencephalic cortical dysplasia (C536243)
..expandObesity, Hyperphagia, and Developmental Delay (C563938)
..expandOGDEN SYNDROME (OMIM:300855)
..expandOliver-McFarlane syndrome (C536554)
..expandPartington Anderson syndrome (C536299)
..expandPlantar Lipomatosis, Unusual Facies, and Developmental Delay (C566559)
..expandPSEUDO-TORCH SYNDROME 1 (OMIM:251290)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandRAJAB SYNDROME (OMIM:613658)
..expandRefsum disease with increased pipecolic acidemia (C535517)
..expandRoifman-Chitayat Syndrome (C567641)
..expandsuccinic semialdehyde dehydrogenase deficiency (C535803)
..expandTer Haar syndrome (C537274)
..expandTetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
..expandThumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053)
..expandWIEDEMANN-STEINER SYNDROME (OMIM:605130)
..expandYOU-HOOVER-FONG SYNDROME (OMIM:616954)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11796
Name:succinic semialdehyde dehydrogenase deficiency
Definition:
Alternative IDs:DO:DOID:0060175|OMIM:271980
ParentIDs:MESH:D000592|MESH:D002658
TreeNumbers:C16.320.565.100/C535803 |C18.452.648.100/C535803 |F03.625.421/C535803
Synonyms:4-hydroxybutyric aciduria |4-Hydroxybutyricaciduria |GABA METABOLIC DEFECT |Gamma-Hydroxybutyric Acidemia |Gamma-Hydroxybutyric Aciduria |SSADHD |SSADH Deficiency
Slim Mappings:Genetic disease (inborn)|Mental disorder|Metabolic disease
Reference: MedGen: C535803
MeSH: C535803
OMIM: 271980;
MSeqDR LSDB:  
Genes: ALDH5A1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0000496Abnormality of eye movement
4 HP:0001939Abnormality of metabolism/homeostasis
5 HP:0002121Absence seizures
6 HP:0000718Aggressive behavior
7 HP:0000739Anxiety
NAMDC:  Anxiety
8 HP:0001251Ataxia
9 HP:0000717Autism
NAMDC:  Autism
10 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
11 HP:0002353EEG abnormality
12 HP:0001290Generalized hypotonia
13 HP:0002123Generalized myoclonic seizures
14 HP:0002069Generalized tonic-clonic seizures
15 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
16 HP:0001263Global developmental delay
NAMDC:  Mental retardation
17 HP:0000738Hallucinations
18 HP:0000752Hyperactivity
19 HP:0002487Hyperkinesis
20 HP:0001265Hyporeflexia
21 HP:0001249Intellectual disability
22 HP:0001270Motor delay
23 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
24 HP:0003812Phenotypic variability
25 HP:0000709Psychosis
26 HP:0100716Self-injurious behavior
27 HP:0002133Status epilepticus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000006.11:g.(?_24278257)_(24533940_?)dup7915ALDH5A1Uncertain significance-1RCV002016596; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262427825724533940nana-1-
NC_000006.11:g.(?_24495205)_(24505233_?)dup7915ALDH5A1Uncertain significance-1RCV000708510; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449520524505233nana-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NC_000006.11:g.(?_24495225)_(24523163_?)dup7915ALDH5A1Uncertain significance-1RCV001373973; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449522524523163nana-1-
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)7915ALDH5A1Benignrs200793796RCV000298285|RCV000368436|RCV001642892; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449523424495234TG6:g.24495234T>GClinGen:CA3656548CN169374 not specified;
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)7915ALDH5A1Conflicting interpretations of pathogenicityrs200398000RCV000525342|RCV000678774|RCV001591209; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenoty62449523724495237AG6:g.24495237A>GClinGen:CA3656550C0036572 Seizures;
NM_001080.3(ALDH5A1):c.18G>T (p.Trp6Cys)7915ALDH5A1Benign/Likely benignrs569456241RCV000532244|RCV001090480; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449524224495242GTNC_000006.11:g.24495242G>TClinGen:CA3656551C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.20T>G (p.Leu7Arg)7915ALDH5A1Uncertain significancers774379306RCV001038592|RCV001772217; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449524424495244TG6:g.24495244T>G-
NM_001080.3(ALDH5A1):c.22C>T (p.Arg8Trp)7915ALDH5A1Conflicting interpretations of pathogenicity-1RCV001415778|RCV001762674; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449524624495246CT24495246-
NM_001080.3(ALDH5A1):c.24G>T (p.Arg8=)7915ALDH5A1Likely benign-1RCV002162971; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449524824495248GT24495248-
NM_001080.3(ALDH5A1):c.28T>A (p.Cys10Ser)7915ALDH5A1Uncertain significancers1011665766RCV000813780; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449525224495252TA6:g.24495252T>A-
NM_001080.3(ALDH5A1):c.34dup (p.Ala12fs)7915ALDH5A1Pathogenic-1RCV001388775|RCV001847256; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449525424495255TTG24495254-
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)7915ALDH5A1Uncertain significancers373315916RCV000733275|RCV001366355; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449525624495256GANC_000006.11:g.24495256G>A-
NM_001080.3(ALDH5A1):c.36_37del (p.Arg13fs)7915ALDH5A1Pathogenic-1RCV001783364; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449525924495260GCCG24495258-
NM_001080.3(ALDH5A1):c.37C>T (p.Arg13Trp)7915ALDH5A1Uncertain significance-1RCV001367518|RCV001553422; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449526124495261CT24495261-
NM_001080.3(ALDH5A1):c.42C>T (p.Arg14=)7915ALDH5A1Likely benign-1RCV002212729; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449526624495266CT24495266-
NM_001080.3(ALDH5A1):c.44T>G (p.Leu15Arg)7915ALDH5A1Uncertain significancers535285968RCV001038639; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449526824495268TG6:g.24495268T>G-
NM_001080.3(ALDH5A1):c.46G>A (p.Gly16Arg)7915ALDH5A1Uncertain significance-1RCV001766973|RCV001861092; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449527024495270GA24495270-
NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu)7915ALDH5A1Uncertain significancers753168976RCV000331869|RCV000401818; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449527424495274CT6:g.24495274C>TClinGen:CA3656563CN169374 not specified;
NM_001080.3(ALDH5A1):c.51G>A (p.Ser17=)7915ALDH5A1Likely benignrs756763728RCV000634943; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449527524495275GA6:g.24495275G>AClinGen:CA3656564C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.54G>T (p.Thr18=)7915ALDH5A1Likely benignrs1254730579RCV000907410|RCV001440812; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449527824495278GT6:g.24495278G>T-
NM_001080.3(ALDH5A1):c.54G>A (p.Thr18=)7915ALDH5A1Likely benign-1RCV002091159; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449527824495278GA24495278-
NM_001080.3(ALDH5A1):c.58C>G (p.Pro20Ala)7915ALDH5A1Uncertain significance-1RCV001371912; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449528224495282CG24495282-
NM_001080.3(ALDH5A1):c.62G>A (p.Gly21Asp)7915ALDH5A1Likely benignrs371923295RCV000537726; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449528624495286GANC_000006.11:g.24495286G>AClinGen:CA3656565C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.71_76dup (p.Leu24_Arg25dup)7915ALDH5A1Uncertain significance-1RCV001996508; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449528924495290GGCCGCCT24495289-
NM_001080.3(ALDH5A1):c.75C>A (p.Arg25=)7915ALDH5A1Likely benign-1RCV001440116; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449529924495299CA24495299-
NM_001080.3(ALDH5A1):c.75C>T (p.Arg25=)7915ALDH5A1Likely benign-1RCV002105661; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449529924495299CT24495299-
NM_001080.3(ALDH5A1):c.79C>G (p.Arg27Gly)7915ALDH5A1Uncertain significancers779798309RCV001051928|RCV001558448; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449530324495303CG6:g.24495303C>G-
NM_001080.3(ALDH5A1):c.79C>T (p.Arg27Cys)7915ALDH5A1Uncertain significance-1RCV001894592; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449530324495303CT24495303-
NM_001080.3(ALDH5A1):c.80G>A (p.Arg27His)7915ALDH5A1Uncertain significancers749120771RCV001303512; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449530424495304GA24495304-
NM_001080.3(ALDH5A1):c.82G>A (p.Ala28Thr)7915ALDH5A1Uncertain significancers1227540131RCV001351158; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449530624495306GA24495306-
NM_001080.3(ALDH5A1):c.86G>A (p.Gly29Asp)7915ALDH5A1Uncertain significancers768533338RCV000823681; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449531024495310GA6:g.24495310G>A-
NM_001080.3(ALDH5A1):c.86G>C (p.Gly29Ala)7915ALDH5A1Uncertain significancers768533338RCV001065789|RCV001200286; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449531024495310GC6:g.24495310G>C-
NM_001080.3(ALDH5A1):c.87C>T (p.Gly29=)7915ALDH5A1Likely benignrs1581800500RCV000934567|RCV001437711; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449531124495311CT6:g.24495311C>T-
NM_001080.3(ALDH5A1):c.88G>A (p.Gly30Ser)7915ALDH5A1Uncertain significancers1171926592RCV001066051; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449531224495312GA6:g.24495312G>A-
NM_001080.3(ALDH5A1):c.88G>T (p.Gly30Cys)7915ALDH5A1Uncertain significance-1RCV002024158; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449531224495312GT24495312-
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)7915ALDH5A1Conflicting interpretations of pathogenicityrs779034609RCV000732361|RCV001445724; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449532624495326CGNC_000006.11:g.24495326C>G-
NM_001080.3(ALDH5A1):c.104_127del (p.Ser35_Gln43delinsTer)7915ALDH5A1Pathogenicrs1561865665RCV000706110; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449532824495351TCCGGGCCTGCGCCCGGCCCGGCCCTNC_000006.11:g.24495328_24495351del-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg)7915ALDH5A1Benignrs4646832RCV000294649|RCV000310207|RCV001707613; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449533024495330GC6:g.24495330G>CClinGen:CA3656572,UniProtKB:P51649#VAR_026227CN169374 not specified;
NM_001080.3(ALDH5A1):c.110C>T (p.Pro37Leu)7915ALDH5A1Uncertain significancers1764663428RCV001204924; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449533424495334CT6:g.24495334C>T-
NM_001080.3(ALDH5A1):c.112G>A (p.Ala38Thr)7915ALDH5A1Uncertain significancers368068626RCV001155653; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449533624495336GA6:g.24495336G>A-
NM_001080.3(ALDH5A1):c.113C>T (p.Ala38Val)7915ALDH5A1Uncertain significancers772101716RCV000593943|RCV001860205; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449533724495337CT6:g.24495337C>TClinGen:CA3656573CN169374 not specified;
NM_001080.3(ALDH5A1):c.123_127dup (p.Gln43fs)7915ALDH5A1Pathogenicrs1273153948RCV001238508; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449533724495338CCGCCCG6:g.24495337_24495338insGCCCG-
NM_001080.3(ALDH5A1):c.115C>G (p.Pro39Ala)7915ALDH5A1Uncertain significancers1293911941RCV001225132; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449533924495339CG6:g.24495339C>G-
NM_001080.3(ALDH5A1):c.116C>G (p.Pro39Arg)7915ALDH5A1Uncertain significancers1251540347RCV000634931; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449534024495340CGNC_000006.11:g.24495340C>GClinGen:CA362968257C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.117C>G (p.Pro39=)7915ALDH5A1Likely benignrs1261800997RCV000981154; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449534124495341CG6:g.24495341C>G-
NM_001080.3(ALDH5A1):c.117C>T (p.Pro39=)7915ALDH5A1Likely benign-1RCV001400663; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449534124495341CT24495341-
NM_001080.3(ALDH5A1):c.118G>C (p.Gly40Arg)7915ALDH5A1Uncertain significancers1326202301RCV000823501; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449534224495342GC6:g.24495342G>C-
NM_001080.3(ALDH5A1):c.122C>T (p.Pro41Leu)7915ALDH5A1Uncertain significance-1RCV001922527; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449534624495346CT24495346-
NM_001080.3(ALDH5A1):c.123G>A (p.Pro41=)7915ALDH5A1Uncertain significancers886042931RCV000289497|RCV000818576; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449534724495347GANC_000006.11:g.24495347G>AClinGen:CA10604884CN169374 not specified;
NM_001080.3(ALDH5A1):c.126C>T (p.Ala42=)7915ALDH5A1Likely benign-1RCV001461135; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449535024495350CT24495350-
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val)7915ALDH5A1Benign/Likely benignrs185042766RCV000363902|RCV000514741; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449535424495354CGNC_000006.11:g.24495354C>GClinGen:CA3656574CN517202 not provided;
NM_001080.3(ALDH5A1):c.133C>A (p.Arg45Ser)7915ALDH5A1Uncertain significancers1045445950RCV001063700; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449535724495357CA6:g.24495357C>A-
NM_001080.3(ALDH5A1):c.136T>C (p.Cys46Arg)7915ALDH5A1Uncertain significance-1RCV002047202; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449536024495360TC24495360-
NM_001080.3(ALDH5A1):c.137G>A (p.Cys46Tyr)7915ALDH5A1Uncertain significancers1397377730RCV000823556; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449536124495361GA6:g.24495361G>A-
NM_001080.3(ALDH5A1):c.138C>T (p.Cys46=)7915ALDH5A1Likely benign-1RCV001458118; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449536224495362CT24495362-
NM_001080.3(ALDH5A1):c.141C>T (p.Tyr47=)7915ALDH5A1Likely benign-1RCV002209760; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449536524495365CT24495365-
NM_001080.3(ALDH5A1):c.147G>T (p.Gly49=)7915ALDH5A1Likely benignrs1262777866RCV000528552; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449537124495371GTNC_000006.11:g.24495371G>TClinGen:CA448958558C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.155C>A (p.Ala52Glu)7915ALDH5A1Uncertain significancers1470894211RCV001242946; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449537924495379CA6:g.24495379C>A-
NM_001080.3(ALDH5A1):c.162C>T (p.Leu54=)7915ALDH5A1Likely benign-1RCV002101379; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449538624495386CT24495386-
NM_001080.3(ALDH5A1):c.164C>T (p.Ser55Phe)7915ALDH5A1Uncertain significancers1472036270RCV001319368; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449538824495388CT24495388-
NM_001080.3(ALDH5A1):c.166G>C (p.Ala56Pro)7915ALDH5A1Uncertain significance-1RCV001949993; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449539024495390GC24495390-
NM_001080.3(ALDH5A1):c.168G>C (p.Ala56=)7915ALDH5A1Likely benignrs371548862RCV000554036; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449539224495392GC6:g.24495392G>CClinGen:CA3656576C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.175C>T (p.Leu59=)7915ALDH5A1Likely benignrs907112605RCV000898854|RCV001597232; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449539924495399CT6:g.24495399C>T-
NM_001080.3(ALDH5A1):c.176T>G (p.Leu59Arg)7915ALDH5A1Uncertain significancers1001493071RCV001202403; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449540024495400TG6:g.24495400T>G-
NM_001080.3(ALDH5A1):c.183C>A (p.Thr61=)7915ALDH5A1Uncertain significancers776791710RCV000700029; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449540724495407CANC_000006.11:g.24495407C>A-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)7915ALDH5A1Conflicting interpretations of pathogenicityrs776791710RCV000731059|RCV001083102; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449540724495407CGNC_000006.11:g.24495407C>G-
NM_001080.3(ALDH5A1):c.186C>T (p.Asp62=)7915ALDH5A1Likely benign-1RCV001409167; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449541024495410CT24495410-
NM_001080.3(ALDH5A1):c.188G>T (p.Ser63Ile)7915ALDH5A1Uncertain significancers374908367RCV000593535|RCV001242870; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449541224495412GT6:g.24495412G>TClinGen:CA136122190CN169374 not specified;
NM_001080.3(ALDH5A1):c.189C>G (p.Ser63Arg)7915ALDH5A1Uncertain significance-1RCV001945400; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449541324495413CG24495413-
NM_001080.3(ALDH5A1):c.199G>A (p.Gly67Ser)7915ALDH5A1Uncertain significancers904596298RCV001040279; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449542324495423GA6:g.24495423G>A-
NM_001080.3(ALDH5A1):c.202C>T (p.Arg68Cys)7915ALDH5A1Uncertain significancers1336249565RCV000634930; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449542624495426CTNC_000006.11:g.24495426C>TClinGen:CA362968429C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.205T>C (p.Trp69Arg)7915ALDH5A1Uncertain significance-1RCV001924264; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449542924495429TC24495429-
NM_001080.3(ALDH5A1):c.208C>A (p.Leu70Ile)7915ALDH5A1Uncertain significancers886061268RCV000269238; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449543224495432CANC_000006.11:g.24495432C>AClinGen:CA10626510C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.208C>G (p.Leu70Val)7915ALDH5A1Uncertain significance-1RCV001941080; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449543224495432CG24495432-
NM_001080.3(ALDH5A1):c.213G>A (p.Pro71=)7915ALDH5A1Uncertain significancers1220581277RCV001312693; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449543724495437GA24495437-
NM_001080.3(ALDH5A1):c.219C>A (p.Ala73=)7915ALDH5A1Uncertain significancers1200016885RCV000542543; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449544324495443CANC_000006.11:g.24495443C>AClinGen:CA448958655C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.225C>T (p.Thr75=)7915ALDH5A1Likely benignrs1581800805RCV000929021|RCV001417570; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449544924495449CT6:g.24495449C>T-
NM_001080.3(ALDH5A1):c.230C>T (p.Pro77Leu)7915ALDH5A1Uncertain significance-1RCV001891979; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449545424495454CT24495454-
NM_001080.3(ALDH5A1):c.231C>G (p.Pro77=)7915ALDH5A1Likely benign-1RCV002215762; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449545524495455CG24495455-
NM_001080.3(ALDH5A1):c.232G>A (p.Val78Met)7915ALDH5A1Uncertain significancers1001529759RCV001309415; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449545624495456GA24495456-
NM_001080.3(ALDH5A1):c.250G>C (p.Gly84Arg)7915ALDH5A1Uncertain significancers1034294766RCV000634935; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449547424495474GC6:g.24495474G>CClinGen:CA136122208C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.250G>A (p.Gly84Ser)7915ALDH5A1Uncertain significance-1RCV001919644; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449547424495474GA24495474-
NM_001080.3(ALDH5A1):c.256G>C (p.Ala86Pro)7915ALDH5A1Uncertain significancers1371742454RCV001304608; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449548024495480GC24495480-
NM_001080.3(ALDH5A1):c.258T>C (p.Ala86=)7915ALDH5A1Likely benign-1RCV001470760; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449548224495482TC24495482-
NM_001080.3(ALDH5A1):c.259C>G (p.Leu87Val)7915ALDH5A1Uncertain significance-1RCV001900511; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449548324495483CG24495483-
NM_001080.3(ALDH5A1):c.264C>T (p.Gly88=)7915ALDH5A1Uncertain significancers759932020RCV001237621; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449548824495488CT6:g.24495488C>T-
NM_001080.3(ALDH5A1):c.264C>A (p.Gly88=)7915ALDH5A1Likely benign-1RCV001450231; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449548824495488CA24495488-
NM_001080.3(ALDH5A1):c.267G>C (p.Met89Ile)7915ALDH5A1Uncertain significancers964260186RCV001338538; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449549124495491GC24495491-
NM_001080.3(ALDH5A1):c.267G>A (p.Met89Ile)7915ALDH5A1Uncertain significance-1RCV002046790; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449549124495491GA24495491-
NM_001080.3(ALDH5A1):c.270A>T (p.Val90=)7915ALDH5A1Likely benign-1RCV001488185; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449549424495494AT24495494-
NM_001080.3(ALDH5A1):c.273C>G (p.Ala91=)7915ALDH5A1Likely benignrs1206650969RCV000966591; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449549724495497CG6:g.24495497C>G-
NM_001080.3(ALDH5A1):c.276del (p.Cys93fs)7915ALDH5A1Pathogenic-1RCV001383232; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449550024495500ACA24495499-
NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe)7915ALDH5A1Pathogenicrs765561257RCV000521746|RCV000700364; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449550224495502GT6:g.24495502G>TClinGen:CA3656579CN517202 not provided;
NM_001080.3(ALDH5A1):c.280G>T (p.Gly94Trp)7915ALDH5A1Uncertain significancers1764672993RCV001210382; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449550424495504GT6:g.24495504G>T-
NM_001080.3(ALDH5A1):c.288A>G (p.Arg96=)7915ALDH5A1Likely benignrs1554135737RCV000552027; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449551224495512AGNC_000006.11:g.24495512A>GClinGen:CA448958708C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.290A>G (p.Glu97Gly)7915ALDH5A1Uncertain significancers1479579407RCV001316120; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449551424495514AG24495514-
NM_001080.3(ALDH5A1):c.291G>C (p.Glu97Asp)7915ALDH5A1Uncertain significancers973569793RCV000793230; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449551524495515GC6:g.24495515G>C-
NM_001080.3(ALDH5A1):c.291G>A (p.Glu97=)7915ALDH5A1Likely benign-1RCV001405227; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449551524495515GA24495515-
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)7915ALDH5A1Conflicting interpretations of pathogenicityrs535825137RCV000324480|RCV001555747; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449551724495517CGNC_000006.11:g.24495517C>GClinGen:CA3656581C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.300_311del (p.Val102_Ala105del)7915ALDH5A1Uncertain significancers1283990436RCV000634938; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449551924495530CCGCGCCGCCGTGC6:g.24495519_24495530delClinGen:CA658796724C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.296G>C (p.Arg99Pro)7915ALDH5A1Uncertain significance-1RCV001892324; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449552024495520GC24495520-
NM_001080.3(ALDH5A1):c.297C>T (p.Arg99=)7915ALDH5A1Likely benign-1RCV002108792; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449552124495521CT24495521-
NM_001080.3(ALDH5A1):c.303C>T (p.Ala101=)7915ALDH5A1Likely benign-1RCV002178315; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449552724495527CT24495527-
NM_001080.3(ALDH5A1):c.304G>C (p.Val102Leu)7915ALDH5A1Uncertain significancers1444935451RCV001157331; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449552824495528GC6:g.24495528G>C-
NM_001080.3(ALDH5A1):c.304G>A (p.Val102Met)7915ALDH5A1Uncertain significance-1RCV001364096; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449552824495528GA24495528-
NM_001080.3(ALDH5A1):c.305T>G (p.Val102Gly)7915ALDH5A1Uncertain significancers1299289161RCV001055170; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449552924495529TG6:g.24495529T>G-
NM_001080.3(ALDH5A1):c.307_308insA (p.Arg103fs)7915ALDH5A1Pathogenicrs1764674805RCV001219873; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449553124495532CCA6:g.24495531_24495532insA-
NM_001080.3(ALDH5A1):c.317A>G (p.Tyr106Cys)7915ALDH5A1Uncertain significancers1581801050RCV000816607|RCV001772118; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262449554124495541AG6:g.24495541A>G-
NM_001080.3(ALDH5A1):c.318C>G (p.Tyr106Ter)7915ALDH5A1Pathogenic-1RCV001383086; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449554224495542CG24495542-
NM_001080.3(ALDH5A1):c.318C>T (p.Tyr106=)7915ALDH5A1Likely benign-1RCV001502429; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449554224495542CT24495542-
NM_001080.3(ALDH5A1):c.319G>C (p.Glu107Gln)7915ALDH5A1Uncertain significancers867767856RCV001220145; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449554324495543GC6:g.24495543G>C-
NM_001080.3(ALDH5A1):c.321G>A (p.Glu107=)7915ALDH5A1Pathogenicrs1764675543RCV001283754; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449554524495545GA24495545OMIM:610045.0007
NM_001080.3(ALDH5A1):c.323C>T (p.Ala108Val)7915ALDH5A1Uncertain significancers1440288677RCV000634928; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449554724495547CTNC_000006.11:g.24495547C>TClinGen:CA362968682C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.325T>C (p.Phe109Leu)7915ALDH5A1Uncertain significancers1309356527RCV000805158; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449554924495549TC6:g.24495549T>C-
NM_001080.3(ALDH5A1):c.335G>A (p.Trp112Ter)7915ALDH5A1Pathogenicrs1764675949RCV001207776; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449555924495559GA6:g.24495559G>A-
NM_001080.3(ALDH5A1):c.338G>A (p.Arg113Lys)7915ALDH5A1Uncertain significancers1581801085RCV000798697; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449556224495562GA6:g.24495562G>A-
NM_001080.3(ALDH5A1):c.341A>G (p.Glu114Gly)7915ALDH5A1Uncertain significance-1RCV001918696; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449556524495565AG24495565-
NM_001080.3(ALDH5A1):c.352A>T (p.Lys118Ter)7915ALDH5A1Pathogenic-1RCV002037648; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449557624495576AT24495576-
NM_001080.3(ALDH5A1):c.354+3GA[2]7915ALDH5A1Uncertain significancers1554135757RCV000545061; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449558124495582TGATNC_000006.11:g.24495582AG[2]ClinGen:CA658657579C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.354+7G>A7915ALDH5A1Likely benign-1RCV001450659; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449558524495585GA24495585-
NM_001080.3(ALDH5A1):c.354+13G>C7915ALDH5A1Likely benign-1RCV002198457; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449559124495591GC24495591-
NM_001080.3(ALDH5A1):c.354+14G>A7915ALDH5A1Conflicting interpretations of pathogenicityrs572861590RCV000271361|RCV000360471; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449559224495592GA6:g.24495592G>AClinGen:CA3656586CN169374 not specified;
NM_001080.3(ALDH5A1):c.354+16T>G7915ALDH5A1Likely benign-1RCV002199778; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262449559424495594TG24495594-
NC_000006.11:g.(?_24502731)_(24515558_?)del7915ALDH5A1Likely pathogenic-1RCV002020108; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450273124515558nana-1-
NM_001080.3(ALDH5A1):c.355-9C>G7915ALDH5A1Likely benignrs375453445RCV000282803|RCV000891015|RCV001589314; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450274224502742CG6:g.24502742C>GClinGen:CA3656597CN169374 not specified;
NM_001080.3(ALDH5A1):c.355-6T>C7915ALDH5A1Likely benign-1RCV001410137; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450274524502745TC24502745-
NM_001080.3(ALDH5A1):c.355-4G>C7915ALDH5A1Conflicting interpretations of pathogenicityrs775932045RCV000503063|RCV002060094; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450274724502747GCNC_000006.11:g.24502747G>CClinGen:CA3656599CN169374 not specified;
NM_001080.3(ALDH5A1):c.355-3C>T7915ALDH5A1Uncertain significancers1759217851RCV001326467; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450274824502748CT24502748-
NM_001080.3(ALDH5A1):c.355G>A (p.Glu119Lys)7915ALDH5A1Uncertain significance-1RCV001887386; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450275124502751GA24502751-
NM_001080.3(ALDH5A1):c.367T>C (p.Leu123=)7915ALDH5A1Likely benign-1RCV002183427; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450276324502763TC24502763-
NM_001080.3(ALDH5A1):c.373C>T (p.Arg125Trp)7915ALDH5A1Uncertain significancers201082048RCV000265864; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450276924502769CTNC_000006.11:g.24502769C>TClinGen:CA3656604C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.374G>A (p.Arg125Gln)7915ALDH5A1Uncertain significancers753604213RCV001346011; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450277024502770GA24502770-
NM_001080.3(ALDH5A1):c.377A>G (p.Lys126Arg)7915ALDH5A1Uncertain significancers1759219662RCV001040429; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450277324502773AG6:g.24502773A>G-
NM_001080.3(ALDH5A1):c.379_380del (p.Trp127fs)7915ALDH5A1Pathogenic-1RCV001950180; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450277424502775AGTA24502773-
NM_001080.3(ALDH5A1):c.397C>T (p.Gln133Ter)7915ALDH5A1Pathogenicrs758087862RCV001209579; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450279324502793CT6:g.24502793C>T-
NM_001080.3(ALDH5A1):c.402T>C (p.Asn134=)7915ALDH5A1Likely benign-1RCV002088341; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450279824502798TC24502798-
NM_001080.3(ALDH5A1):c.410A>T (p.Asp137Val)7915ALDH5A1Uncertain significance-1RCV002041415; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450280624502806AT24502806-
NM_001080.3(ALDH5A1):c.411C>A (p.Asp137Glu)7915ALDH5A1Uncertain significancers1216101332RCV000823772; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450280724502807CA6:g.24502807C>A-
NM_001080.3(ALDH5A1):c.424_425del (p.Ile142fs)7915ALDH5A1Pathogenic-1RCV002051420; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450282024502821AATA24502819-
NM_001080.3(ALDH5A1):c.432T>C (p.Ala144=)7915ALDH5A1Likely benignrs746895751RCV000937590; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450282824502828TC6:g.24502828T>C-
NM_001080.3(ALDH5A1):c.439-11A>G7915ALDH5A1Likely benign-1RCV002206006; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450348024503480AG24503480-
NM_001080.3(ALDH5A1):c.439-7A>G7915ALDH5A1Likely benign-1RCV001392281; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450348424503484AG24503484-
NM_001080.3(ALDH5A1):c.460C>T (p.His154Tyr)7915ALDH5A1Uncertain significance-1RCV001965368; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450351224503512CT24503512-
NM_001080.3(ALDH5A1):c.461A>G (p.His154Arg)7915ALDH5A1Uncertain significancers141686677RCV000559861; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450351324503513AGNC_000006.11:g.24503513A>GClinGen:CA3656626C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.464G>A (p.Gly155Glu)7915ALDH5A1Uncertain significancers1554136421RCV000634941; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450351624503516GANC_000006.11:g.24503516G>AClinGen:CA362969442C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=)7915ALDH5A1Benign/Likely benignrs143486700RCV000529528|RCV000594246|RCV001591210; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN169374|MedGen:CN51720262450353224503532CTNC_000006.11:g.24503532C>TClinGen:CA3656634CN169374 not specified;
NM_001080.3(ALDH5A1):c.481G>A (p.Ala161Thr)7915ALDH5A1Uncertain significancers139486423RCV001338640; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450353324503533GA24503533-
NM_001080.3(ALDH5A1):c.490C>T (p.Leu164=)7915ALDH5A1Likely benignrs749451380RCV000634945; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450354224503542CTNC_000006.11:g.24503542C>TClinGen:CA3656636C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.498G>T (p.Trp166Cys)7915ALDH5A1not provided-1RCV001825169; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450355024503550GT24503550-
NM_001080.3(ALDH5A1):c.514C>T (p.Arg172Cys)7915ALDH5A1Uncertain significancers551902853RCV001301100|RCV001760351; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450356624503566CT24503566-
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His)7915ALDH5A1Conflicting interpretations of pathogenicityrs773814880RCV000321024; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450356724503567GANC_000006.11:g.24503567G>AClinGen:CA3656641C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.518G>A (p.Arg173His)7915ALDH5A1Uncertain significancers369366567RCV001157332|RCV001566785; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450357024503570GA6:g.24503570G>A-
NM_001080.3(ALDH5A1):c.518G>T (p.Arg173Leu)7915ALDH5A1Uncertain significance-1RCV001876558; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450357024503570GT24503570-
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)7915ALDH5A1Conflicting interpretations of pathogenicityrs372455508RCV000899463; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450357724503577CT6:g.24503577C>T-
NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg)7915ALDH5A1Pathogenicrs72552281RCV000423242|RCV001064033; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450357824503578GA6:g.24503578G>AClinGen:CA16604920CN517202 not provided;
NM_001080.3(ALDH5A1):c.532A>G (p.Ile178Val)7915ALDH5A1Uncertain significancers751365223RCV000634926; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450358424503584AGNC_000006.11:g.24503584A>GClinGen:CA3656648C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.533T>C (p.Ile178Thr)7915ALDH5A1Uncertain significancers375773360RCV001350297; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450358524503585TC24503585-
NM_001080.3(ALDH5A1):c.534T>A (p.Ile178=)7915ALDH5A1Likely benign-1RCV001459391; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450358624503586TA24503586-
NM_001080.3(ALDH5A1):c.535A>G (p.Ile179Val)7915ALDH5A1Uncertain significancers1759245914RCV001151890; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450358724503587AG6:g.24503587A>G-
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr)7915ALDH5A1Benignrs2760118RCV000116307|RCV000375656|RCV001711276; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450359024503590CT6:g.24503590C>TClinGen:CA151744,UniProtKB:P51649#VAR_016758CN169374 not specified;
NM_001080.3(ALDH5A1):c.541A>G (p.Thr181Ala)7915ALDH5A1Uncertain significancers975269028RCV001217427; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450359324503593AG6:g.24503593A>G-
NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile)7915ALDH5A1Uncertain significancers147439442RCV000634933|RCV001571727; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450359424503594CT6:g.24503594C>TClinGen:CA3656650C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.544_545delinsGT (p.Pro182Val)7915ALDH5A1Uncertain significance-1RCV001952124; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450359624503597CCGT24503596-
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu)7915ALDH5A1Benignrs3765310RCV000116308|RCV000280693|RCV001723676; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450359724503597CT6:g.24503597C>TClinGen:CA151747,UniProtKB:P51649#VAR_016759CN169374 not specified;
NM_001080.3(ALDH5A1):c.546G>A (p.Pro182=)7915ALDH5A1Likely benign-1RCV002164594; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450359824503598GA24503598-
NM_001080.3(ALDH5A1):c.560G>A (p.Arg187Gln)7915ALDH5A1Uncertain significancers755160772RCV001053004; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450361224503612GA6:g.24503612G>A-
NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs)7915ALDH5A1Pathogenicrs755029414RCV000820918; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450361324503614GGGCCCTTT6:g.24503613_24503614insGCCCTTT-
NM_001080.3(ALDH5A1):c.562G>A (p.Ala188Thr)7915ALDH5A1Uncertain significance-1RCV001364700; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450361424503614GA24503614-
NM_001080.3(ALDH5A1):c.563C>T (p.Ala188Val)7915ALDH5A1Uncertain significance-1RCV001808100; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450361524503615CT24503615-
NM_001080.3(ALDH5A1):c.565C>T (p.Leu189=)7915ALDH5A1Likely benignrs1064796918RCV000634948; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450361724503617CT6:g.24503617C>TClinGen:CA448782599C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.583A>G (p.Ile195Val)7915ALDH5A1Uncertain significancers759237061RCV000537398; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450363524503635AGNC_000006.11:g.24503635A>GClinGen:CA3656658C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.584T>C (p.Ile195Thr)7915ALDH5A1Uncertain significance-1RCV001943614; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450363624503636TC24503636-
NM_001080.3(ALDH5A1):c.588C>T (p.Gly196=)7915ALDH5A1Conflicting interpretations of pathogenicityrs145208127RCV000390571|RCV001081110; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450364024503640CT6:g.24503640C>TClinGen:CA3656661CN169374 not specified;
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)7915ALDH5A1Uncertain significancers768219929RCV000371631|RCV000622989|RCV000730082; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MeSH:D030342,MedGen:C0950123|MedGen:CN51720262450364124503641GANC_000006.11:g.24503641G>AClinGen:CA3656663C0950123 Inborn genetic diseases;
NM_001080.3(ALDH5A1):c.595G>A (p.Ala199Thr)7915ALDH5A1Uncertain significance-1RCV001893909; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450364724503647GA24503647-
NM_001080.3(ALDH5A1):c.603C>A (p.Ile201=)7915ALDH5A1Likely benign-1RCV002200000; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450365524503655CA24503655-
NM_001080.3(ALDH5A1):c.605C>T (p.Thr202Ile)7915ALDH5A1Uncertain significancers148733464RCV000702347|RCV000725437; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450365724503657CT6:g.24503657C>TClinGen:CA3656664CN169374 not specified;
NM_001080.3(ALDH5A1):c.606C>A (p.Thr202=)7915ALDH5A1Likely benign-1RCV002082027; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450365824503658CA24503658-
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)7915ALDH5A1Conflicting interpretations of pathogenicity-1RCV001815110|RCV001885302; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450366024503660CT24503660-
NM_001080.3(ALDH5A1):c.609G>A (p.Pro203=)7915ALDH5A1Uncertain significancers142373741RCV001303907; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450366124503661GA24503661-
NM_001080.3(ALDH5A1):c.609+5G>T7915ALDH5A1Uncertain significancers376633237RCV001338539; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450366624503666GT24503666-
NM_001080.3(ALDH5A1):c.609+9C>G7915ALDH5A1Uncertain significancers369980939RCV001324839; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450367024503670CG24503670-
NM_001080.3(ALDH5A1):c.609+15C>T7915ALDH5A1Likely benign-1RCV002202902; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450367624503676CT24503676-
NM_001080.3(ALDH5A1):c.609+20A>G7915ALDH5A1Likely benign-1RCV002098882; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450368124503681AG24503681-
NC_000006.11:g.(?_24505087)_(24533940_?)del7915ALDH5A1Pathogenic-1RCV001390046; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450508724533940nana-1-
NM_001080.3(ALDH5A1):c.610-5C>T7915ALDH5A1Benignrs76752785RCV000295796|RCV001535266; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450509224505092CTNC_000006.11:g.24505092C>TClinGen:CA3656677C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.610-2A>G7915ALDH5A1Pathogenicrs1301821497RCV000549195|RCV001266934|RCV001550369; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MeSH:D030342,MedGen:C0950123|MedGen:CN51720262450509524505095AGNC_000006.11:g.24505095A>GClinGen:CA362969963C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)7915ALDH5A1Pathogenicrs118203982RCV000001422|RCV000224440; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450509924505099GA6:g.24505099G>AClinGen:CA251757,OMIM:610045.0003CN517202 not provided;
NM_001080.3(ALDH5A1):c.615T>C (p.Asn205=)7915ALDH5A1Likely benign-1RCV001429145; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450510224505102TC24505102-
NM_001080.3(ALDH5A1):c.621del (p.Ser208fs)7915ALDH5A1Pathogenicrs1306678453RCV000822905; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450510524505105TCT6:g.24505105_24505105del-
NM_001080.3(ALDH5A1):c.649G>A (p.Ala217Thr)7915ALDH5A1Uncertain significancers1064796319RCV000478300|RCV001865476; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450513624505136GA6:g.24505136G>AClinGen:CA16618274CN169374 not specified;
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=)7915ALDH5A1Conflicting interpretations of pathogenicityrs4646837RCV000951864; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450513824505138CT6:g.24505138C>T-
NM_001080.3(ALDH5A1):c.652G>A (p.Ala218Thr)7915ALDH5A1Uncertain significancers772998296RCV001044210; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450513924505139GA6:g.24505139G>A-
NM_001080.3(ALDH5A1):c.660_666del (p.Ala221fs)7915ALDH5A1Pathogenic-1RCV001984815; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450514424505150TGGCAGCCT24505143-
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=)7915ALDH5A1Conflicting interpretations of pathogenicityrs760461822RCV000317049|RCV000912189; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450515024505150CTNC_000006.11:g.24505150C>TClinGen:CA3656685C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.663C>A (p.Ala221=)7915ALDH5A1Likely benign-1RCV002181779; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450515024505150CA24505150-
NM_001080.3(ALDH5A1):c.665del (p.Gly222fs)7915ALDH5A1Likely pathogenic-1RCV001785908; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450515124505151CGC24505150-
NM_001080.3(ALDH5A1):c.664G>A (p.Gly222Ser)7915ALDH5A1Uncertain significance-1RCV001903563; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450515124505151GA24505151-
NM_001080.3(ALDH5A1):c.671C>A (p.Thr224Asn)7915ALDH5A1Uncertain significance-1RCV001947347; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450515824505158CA24505158-
NM_001080.3(ALDH5A1):c.675C>T (p.Val225=)7915ALDH5A1Benignrs776598651RCV000942861|RCV001519971; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450516224505162CT6:g.24505162C>T-
NM_001080.3(ALDH5A1):c.676G>A (p.Val226Met)7915ALDH5A1Uncertain significancers770884090RCV000692366; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450516324505163GANC_000006.11:g.24505163G>A-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.676G>T (p.Val226Leu)7915ALDH5A1Uncertain significancers770884090RCV001302791; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450516324505163GT24505163-
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=)7915ALDH5A1Benign/Likely benignrs113591366RCV000548370|RCV001706664; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450516524505165GC6:g.24505165G>CClinGen:CA3656689C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.678G>A (p.Val226=)7915ALDH5A1Uncertain significancers113591366RCV000699367; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450516524505165GANC_000006.11:g.24505165G>A-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.684G>A (p.Lys228=)7915ALDH5A1Likely benignrs200484487RCV000968433|RCV001576710|RCV001819081; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN517202|MedGen:CN16937462450517124505171GA6:g.24505171G>A-
NM_001080.3(ALDH5A1):c.690C>T (p.Ala230=)7915ALDH5A1Likely benign-1RCV002142617; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450517724505177CT24505177-
NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys)7915ALDH5A1Likely pathogenicrs751888532RCV001202475; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450517824505178GA6:g.24505178G>A-
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly)7915ALDH5A1Conflicting interpretations of pathogenicity-1RCV001984196; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450517924505179AG24505179-
NM_001080.3(ALDH5A1):c.696C>T (p.Asp232=)7915ALDH5A1Likely benignrs145883639RCV000634953; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450518324505183CT6:g.24505183C>TClinGen:CA3656696C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.702C>T (p.Pro234=)7915ALDH5A1Likely benign-1RCV001960954; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450518924505189CT24505189-
NM_001080.3(ALDH5A1):c.708C>T (p.Ser236=)7915ALDH5A1Likely benignrs771725195RCV000634954; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450519524505195CT6:g.24505195C>TClinGen:CA3656700C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser)7915ALDH5A1Benign/Likely benignrs62621664RCV000202752|RCV000526767|RCV001723774; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450519624505196GTNC_000006.11:g.24505196G>TClinGen:CA248940,UniProtKB:P51649#VAR_026228CN169374 not specified;
NM_001080.3(ALDH5A1):c.709G>A (p.Ala237Thr)7915ALDH5A1Uncertain significancers62621664RCV001153134; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450519624505196GA6:g.24505196G>A-
NM_001080.3(ALDH5A1):c.711C>T (p.Ala237=)7915ALDH5A1Likely benign-1RCV002098805; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450519824505198CT24505198-
NM_001080.3(ALDH5A1):c.718C>G (p.Leu240Val)7915ALDH5A1Uncertain significancers1759310167RCV001238852; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450520524505205CG6:g.24505205C>G-
NM_001080.3(ALDH5A1):c.726+3G>A7915ALDH5A1Benignrs114082057RCV000350772|RCV001613179; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450521624505216GANC_000006.11:g.24505216G>AClinGen:CA3656703C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.726+7C>T7915ALDH5A1Likely benignrs376318673RCV000551709; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262450522024505220CT6:g.24505220C>TClinGen:CA3656704C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.726+8G>A7915ALDH5A1Benignrs2817220RCV000394327|RCV001594989; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262450522124505221GA6:g.24505221G>AClinGen:CA3656705C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.727-3298G>A7915ALDH5A1Pathogenicrs1561872640RCV000001421; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451209724512097GANC_000006.11:g.24512097G>AOMIM:610045.0002C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.727-15T>C7915ALDH5A1Benignrs13362724RCV000292162|RCV001707675; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262451538024515380TC6:g.24515380T>CClinGen:CA3656734C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.727-13T>G7915ALDH5A1Conflicting interpretations of pathogenicityrs187404409RCV001153135; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451538224515382TG6:g.24515382T>G-
NM_001080.3(ALDH5A1):c.735C>G (p.Ser245Arg)7915ALDH5A1Uncertain significancers141430899RCV001066062|RCV001760039; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262451540324515403CG6:g.24515403C>G-
NM_001080.3(ALDH5A1):c.738G>A (p.Gln246=)7915ALDH5A1Likely benignrs372881980RCV000938106|RCV001396268; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451540624515406GA6:g.24515406G>A-
NM_001080.3(ALDH5A1):c.758T>C (p.Val253Ala)7915ALDH5A1Uncertain significance-1RCV001910120; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451542624515426TC24515426-
NM_001080.3(ALDH5A1):c.760T>C (p.Tyr254His)7915ALDH5A1Uncertain significance-1RCV001891471; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451542824515428TC24515428-
NM_001080.3(ALDH5A1):c.761A>G (p.Tyr254Cys)7915ALDH5A1Uncertain significance-1RCV001988155; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451542924515429AG24515429-
NM_001080.3(ALDH5A1):c.763A>C (p.Asn255His)7915ALDH5A1Uncertain significance-1RCV002011421; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451543124515431AC24515431-
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser)7915ALDH5A1Uncertain significancers145087265RCV001035617; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451543224515432AG6:g.24515432A>G-
NM_001080.3(ALDH5A1):c.781C>G (p.Arg261Gly)7915ALDH5A1Uncertain significancers774496720RCV001062834; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451544924515449CG6:g.24515449C>G-
NM_001080.3(ALDH5A1):c.782G>A (p.Arg261Gln)7915ALDH5A1Uncertain significancers772361710RCV001153136; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451545024515450GA6:g.24515450G>A-
NM_001080.3(ALDH5A1):c.783A>G (p.Arg261=)7915ALDH5A1Likely benignrs761068786RCV000936895|RCV001429210; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451545124515451AG6:g.24515451A>G-
NM_001080.3(ALDH5A1):c.786G>C (p.Lys262Asn)7915ALDH5A1Uncertain significancers766715554RCV000634937|RCV001756053; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262451545424515454GC6:g.24515454G>CClinGen:CA3656751C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.793A>G (p.Lys265Glu)7915ALDH5A1Uncertain significance-1RCV001922433; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451546124515461AG24515461-
NM_001080.3(ALDH5A1):c.794A>C (p.Lys265Thr)7915ALDH5A1Uncertain significancers201146454RCV001298991; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451546224515462AC24515462-
NM_001080.3(ALDH5A1):c.798A>T (p.Glu266Asp)7915ALDH5A1Uncertain significancers751098237RCV000634942; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451546624515466AT6:g.24515466A>TClinGen:CA3656755C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.799G>T (p.Val267Leu)7915ALDH5A1Uncertain significancers1759546145RCV001234690|RCV001773528; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262451546724515467GT6:g.24515467G>T-
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu)7915ALDH5A1Pathogenicrs375628463RCV000224315|RCV000524751|RCV001266933; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MeSH:D030342,MedGen:C095012362451547124515471GA6:g.24515471G>AClinGen:CA3656756CN517202 not provided;
NM_001080.3(ALDH5A1):c.819del (p.Asp274fs)7915ALDH5A1Pathogenicrs778127154RCV000624029|RCV000634923; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451548724515487CTC6:g.24515487_24515487delClinGen:CA3656762C0950123 Inborn genetic diseases;
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=)7915ALDH5A1Conflicting interpretations of pathogenicityrs138912422RCV000904616; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451549924515499GA6:g.24515499G>A-
NM_001080.3(ALDH5A1):c.844T>G (p.Phe282Val)7915ALDH5A1Uncertain significance-1RCV002028446; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451551224515512TG24515512-
NM_001080.3(ALDH5A1):c.848C>G (p.Thr283Ser)7915ALDH5A1Uncertain significancers1759548002RCV001225690; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451551624515516CG6:g.24515516C>G-
NM_001080.3(ALDH5A1):c.854C>G (p.Ser285Ter)7915ALDH5A1Pathogenic-1RCV001383176; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451552224515522CG24515522-
NM_001080.3(ALDH5A1):c.855A>G (p.Ser285=)7915ALDH5A1Likely benign-1RCV002195550; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451552324515523AG24515523-
NM_001080.3(ALDH5A1):c.859A>G (p.Thr287Ala)7915ALDH5A1Uncertain significancers369156704RCV001220446; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451552724515527AG6:g.24515527A>G-
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)7915ALDH5A1Conflicting interpretations of pathogenicityrs373320785RCV000822136|RCV001252141|RCV001529714; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenoty62451553024515530AG6:g.24515530A>G-
NM_001080.3(ALDH5A1):c.870+4T>A7915ALDH5A1Uncertain significance-1RCV001371458; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451554224515542TA24515542-
NM_001080.3(ALDH5A1):c.870+9C>T7915ALDH5A1Likely benign-1RCV002096108; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451554724515547CT24515547-
NM_001080.3(ALDH5A1):c.870+14G>A7915ALDH5A1Benign-1RCV002132579; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451555224515552GA24515552-
NM_001080.3(ALDH5A1):c.870+15T>C7915ALDH5A1Likely benign-1RCV002189357; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262451555324515553TC24515553-
NM_001080.3(ALDH5A1):c.871-13C>T7915ALDH5A1Likely benign-1RCV002107467; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452061624520616CT24520616-
NM_001080.3(ALDH5A1):c.871-6T>C7915ALDH5A1Likely benign-1RCV002173981; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452062324520623TC24520623-
NM_001080.3(ALDH5A1):c.881A>C (p.His294Pro)7915ALDH5A1Uncertain significancers771163119RCV001201778; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452063924520639AC6:g.24520639A>C-
NM_001080.3(ALDH5A1):c.885C>T (p.His295=)7915ALDH5A1Likely benignrs367554353RCV000634946|RCV001471507; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452064324520643CT6:g.24520643C>TClinGen:CA3656787C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr)7915ALDH5A1Benignrs149482918RCV000224711|RCV000347209; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452064424520644GA6:g.24520644G>AClinGen:CA3656788CN517202 not provided;
NM_001080.3(ALDH5A1):c.896_897del (p.Ser299fs)7915ALDH5A1Pathogenic-1RCV001389230; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452065224520653ACTA24520651-
NM_001080.3(ALDH5A1):c.896C>A (p.Ser299Tyr)7915ALDH5A1Uncertain significance-1RCV001974061; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452065424520654CA24520654-
NM_001080.3(ALDH5A1):c.897T>C (p.Ser299=)7915ALDH5A1Likely benignrs533586467RCV000920993|RCV001406933; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452065524520655TC6:g.24520655T>C-
NM_001080.3(ALDH5A1):c.923G>A (p.Gly308Asp)7915ALDH5A1Uncertain significance-1RCV001987788; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452068124520681GA24520681-
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)7915ALDH5A1Conflicting interpretations of pathogenicityrs188108571RCV001155740; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452068224520682CT6:g.24520682C>T-
NM_001080.3(ALDH5A1):c.925G>A (p.Gly309Ser)7915ALDH5A1Uncertain significancers768719885RCV000394293; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452068324520683GA6:g.24520683G>AClinGen:CA3656797C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.932C>G (p.Ala311Gly)7915ALDH5A1Uncertain significance-1RCV001906479; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452069024520690CG24520690-
NM_001080.3(ALDH5A1):c.948T>G (p.Phe316Leu)7915ALDH5A1Uncertain significancers1172837609RCV001155741; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452070624520706TG6:g.24520706T>G-
NM_001080.3(ALDH5A1):c.958A>G (p.Asn320Asp)7915ALDH5A1Uncertain significancers912930280RCV001043042; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452071624520716AG6:g.24520716A>G-
NM_001080.3(ALDH5A1):c.959A>G (p.Asn320Ser)7915ALDH5A1Uncertain significancers570262377RCV001295900; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452071724520717AG24520717-
NM_001080.3(ALDH5A1):c.960C>T (p.Asn320=)7915ALDH5A1Likely benign-1RCV001493267; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452071824520718CT24520718-
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)7915ALDH5A1Conflicting interpretations of pathogenicityrs115784602RCV000308455|RCV000363885|RCV000438651; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN169374|MedGen:CN51720262452071924520719GA6:g.24520719G>AClinGen:CA3656805CN517202 not provided;
NM_001080.3(ALDH5A1):c.967_968dup (p.Gln323fs)7915ALDH5A1Pathogenic-1RCV001386894; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452072424520725CCCA24520724-
NM_001080.3(ALDH5A1):c.971C>T (p.Ala324Val)7915ALDH5A1Uncertain significancers1759659944RCV001324419; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452072924520729CT24520729-
NM_001080.3(ALDH5A1):c.978A>T (p.Ala326=)7915ALDH5A1Likely benignrs1234197652RCV000939700; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452073624520736AT6:g.24520736A>T-
NM_001080.3(ALDH5A1):c.983C>T (p.Ala328Val)7915ALDH5A1Uncertain significance-1RCV001980405; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452074124520741CT24520741-
NM_001080.3(ALDH5A1):c.985A>G (p.Met329Val)7915ALDH5A1Uncertain significancers1581818516RCV000821086; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452074324520743AG6:g.24520743A>G-
NM_001080.3(ALDH5A1):c.1008T>C (p.Thr336=)7915ALDH5A1Likely benign-1RCV001495896; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452076624520766TC24520766-
NM_001080.3(ALDH5A1):c.1014+7C>A7915ALDH5A1Likely benign-1RCV002130512; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452077924520779CA24520779-
NM_001080.3(ALDH5A1):c.1014+8C>T7915ALDH5A1Likely benignrs368394825RCV000972437|RCV001490525; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452078024520780CT6:g.24520780C>T-
NM_001080.3(ALDH5A1):c.1014+12A>G7915ALDH5A1Likely benign-1RCV002216540; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452078424520784AG24520784-
NM_001080.3(ALDH5A1):c.1014+13G>C7915ALDH5A1Likely benign-1RCV002112232; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452078524520785GC24520785-
NM_001080.3(ALDH5A1):c.1014+60TG[6]7915ALDH5A1Benignrs199737070RCV000987658|RCV001712838; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262452083224520833ATGA6:g.24520832_24520833del-
NM_001080.3(ALDH5A1):c.1014+723_1173+796del7915ALDH5A1Pathogenic-1RCV000001425; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452149224523946CCTTCACAGTTATCAGCTCTACAAACGTTGCATTTTAGAGATGAGGAAATGAAACTCTAGAAAGAAAAAGTGACTTAGAGATCAGACGTCTTTGGGCCACAGTGTCAAATC6:g.24521492_24521590delClinGen:CA251764,dbVar:nssv3761546,OMIM:610045.0006C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1015-19G>A7915ALDH5A1Likely benign-1RCV002112991; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452297624522976GA24522976-
NM_001080.3(ALDH5A1):c.1015-3C>G7915ALDH5A1Likely pathogenic-1RCV002019004; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452299224522992CG24522992-
NM_001080.3(ALDH5A1):c.1015-2A>C7915ALDH5A1Pathogenicrs769111673RCV001233016; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452299324522993AC6:g.24522993A>C-
NM_001080.3(ALDH5A1):c.1015-1G>C7915ALDH5A1Pathogenic-1RCV002000028; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452299424522994GC24522994-
NM_001080.3(ALDH5A1):c.1019G>C (p.Cys340Ser)7915ALDH5A1Uncertain significance-1RCV001984138; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452299924522999GC24522999-
NM_001080.3(ALDH5A1):c.1020T>G (p.Cys340Trp)7915ALDH5A1Uncertain significancers887448536RCV000634936; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452300024523000TGNC_000006.11:g.24523000T>GClinGen:CA136135966C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1045C>T (p.Gln349Ter)7915ALDH5A1Likely pathogenicrs1581819950RCV000991436; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452302524523025CT6:g.24523025C>T-
NM_001080.3(ALDH5A1):c.1051G>T (p.Gly351Cys)7915ALDH5A1Uncertain significancers772638789RCV001231618; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452303124523031GT6:g.24523031G>T-
NM_001080.3(ALDH5A1):c.1071A>G (p.Val357=)7915ALDH5A1Likely benign-1RCV002217609; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452305124523051AG24523051-
NM_001080.3(ALDH5A1):c.1080C>T (p.Phe360=)7915ALDH5A1Likely benignrs571602201RCV000634952|RCV001731824; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262452306024523060CT6:g.24523060C>TClinGen:CA3656845C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1080C>G (p.Phe360Leu)7915ALDH5A1Uncertain significance-1RCV002011263; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452306024523060CG24523060-
NM_001080.3(ALDH5A1):c.1081G>A (p.Ala361Thr)7915ALDH5A1Uncertain significancers1759722342RCV001048386; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452306124523061GA6:g.24523061G>A-
NM_001080.3(ALDH5A1):c.1082C>T (p.Ala361Val)7915ALDH5A1Uncertain significancers763860786RCV000344651; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452306224523062CT6:g.24523062C>TClinGen:CA3656846C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1083C>T (p.Ala361=)7915ALDH5A1Likely benign-1RCV001411136; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452306324523063CT24523063-
NM_001080.3(ALDH5A1):c.1083C>A (p.Ala361=)7915ALDH5A1Likely benign-1RCV002145630; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452306324523063CA24523063-
NM_001080.3(ALDH5A1):c.1084G>A (p.Glu362Lys)7915ALDH5A1Uncertain significancers1222413080RCV001155742; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452306424523064GA6:g.24523064G>A-
NM_001080.3(ALDH5A1):c.1091T>C (p.Met364Thr)7915ALDH5A1Uncertain significance-1RCV001967682; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452307124523071TC24523071-
NM_001080.3(ALDH5A1):c.1102C>T (p.Leu368=)7915ALDH5A1Likely benign-1RCV002091900; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452308224523082CT24523082-
NM_001080.3(ALDH5A1):c.1105C>T (p.Arg369Cys)7915ALDH5A1Uncertain significancers772038058RCV001751477|RCV001241729; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452308524523085CT6:g.24523085C>T-
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)7915ALDH5A1Conflicting interpretations of pathogenicityrs148188703RCV000303300|RCV001086195; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452308724523087CT6:g.24523087C>TClinGen:CA3656852CN169374 not specified;
NM_001080.3(ALDH5A1):c.1108G>A (p.Val370Ile)7915ALDH5A1Uncertain significancers754091433RCV000400195; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452308824523088GA6:g.24523088G>AClinGen:CA3656853C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1114A>G (p.Asn372Asp)7915ALDH5A1Uncertain significance-1RCV001872200; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452309424523094AG24523094-
NM_001080.3(ALDH5A1):c.1120T>G (p.Phe374Val)7915ALDH5A1Uncertain significancers1561876817RCV000705405; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452310024523100TGNC_000006.11:g.24523100T>G-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1134T>C (p.Thr378=)7915ALDH5A1Likely benign-1RCV002126425; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452311424523114TC24523114-
NM_001080.3(ALDH5A1):c.1140G>A (p.Gln380=)7915ALDH5A1Likely benign-1RCV001405191; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452312024523120GA24523120-
NM_001080.3(ALDH5A1):c.1163C>T (p.Ala388Val)7915ALDH5A1Uncertain significancers536355368RCV000559516|RCV001731755; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262452314324523143CTNC_000006.11:g.24523143C>TClinGen:CA3656857C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1164G>A (p.Ala388=)7915ALDH5A1Likely benignrs553384589RCV000537253; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452314424523144GA6:g.24523144G>AClinGen:CA448786495C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1164G>C (p.Ala388=)7915ALDH5A1Likely benignrs553384589RCV000634944; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452314424523144GC6:g.24523144G>CClinGen:CA3656859C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1164G>T (p.Ala388=)7915ALDH5A1Likely benign-1RCV002083730; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452314424523144GT24523144-
NM_001080.3(ALDH5A1):c.1169A>G (p.Glu390Gly)7915ALDH5A1Uncertain significancers142677472RCV001064063|RCV001585967; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262452314924523149AG6:g.24523149A>G-
NM_001080.3(ALDH5A1):c.1173+8dup7915ALDH5A1Likely benign-1RCV002219953; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452316024523161AAT24523160-
NM_001080.3(ALDH5A1):c.1173+12G>A7915ALDH5A1Likely benign-1RCV002168418; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452316524523165GA24523165-
NM_001080.3(ALDH5A1):c.1173+18T>C7915ALDH5A1Likely benign-1RCV002126610; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452317124523171TC24523171-
NC_000006.12:g.(?_24527977)_(24528186_?)del7915ALDH5A1Pathogenic-1RCV000708152; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452820524528414nana-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1174-16C>T7915ALDH5A1Likely benign-1RCV002183612; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452820924528209CT24528209-
NM_001080.3(ALDH5A1):c.1174-10C>T7915ALDH5A1Likely benign-1RCV002180012; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452821524528215CT24528215-
NM_001080.3(ALDH5A1):c.1174-9A>C7915ALDH5A1Likely benign-1RCV001490969; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452821624528216AC24528216-
NM_001080.3(ALDH5A1):c.1174-7T>C7915ALDH5A1Likely benign-1RCV001462221; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452821824528218TC24528218-
NM_001080.3(ALDH5A1):c.1186G>A (p.Val396Met)7915ALDH5A1Uncertain significancers199686669RCV001063127; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452823724528237GA6:g.24528237G>A-
NM_001080.3(ALDH5A1):c.1188G>A (p.Val396=)7915ALDH5A1Likely benign-1RCV002205842; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452823924528239GA24528239-
NM_001080.3(ALDH5A1):c.1191T>G (p.Asn397Lys)7915ALDH5A1Uncertain significancers923140210RCV001069963; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452824224528242TG6:g.24528242T>G-
NM_001080.3(ALDH5A1):c.1192G>C (p.Asp398His)7915ALDH5A1Uncertain significancers894412564RCV001205153; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452824324528243GC6:g.24528243G>C-
NM_001080.3(ALDH5A1):c.1197C>T (p.Ala399=)7915ALDH5A1Likely benign-1RCV001466802; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452824824528248CT24528248-
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)7915ALDH5A1Conflicting interpretations of pathogenicityrs147358733RCV000309054|RCV001079528|RCV001263309; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002162452824924528249GA6:g.24528249G>AClinGen:CA3656880CN169374 not specified;
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly)7915ALDH5A1Conflicting interpretations of pathogenicityrs139719918RCV000542929|RCV001249504|RCV001577126; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenoty62452826224528262CGNC_000006.11:g.24528262C>GClinGen:CA3656882C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1216G>A (p.Val406Ile)7915ALDH5A1Uncertain significancers143741652RCV001226338; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452826724528267GA6:g.24528267G>A-
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)7915ALDH5A1Pathogenicrs118203984RCV000001424|RCV001725927; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262452827724528277GA6:g.24528277G>AClinGen:CA251762,UniProtKB:P51649#VAR_026208,OMIM:610045.0005C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter)7915ALDH5A1Pathogenicrs118203983RCV000001423; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452828524528285CT6:g.24528285C>TClinGen:CA251759,OMIM:610045.0004C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1235G>A (p.Arg412Gln)7915ALDH5A1Uncertain significancers760658291RCV001043945; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452828624528286GA6:g.24528286G>A-
NM_001080.3(ALDH5A1):c.1243C>A (p.Leu415Ile)7915ALDH5A1Uncertain significancers1581824124RCV000816848; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452829424528294CA6:g.24528294C>A-
NM_001080.3(ALDH5A1):c.1252A>C (p.Asn418His)7915ALDH5A1Uncertain significance-1RCV001910369; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452830324528303AC24528303-
NM_001080.3(ALDH5A1):c.1255T>G (p.Phe419Val)7915ALDH5A1Uncertain significancers1219635429RCV000704442; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452830624528306TGNC_000006.11:g.24528306T>G-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1264C>T (p.Pro422Ser)7915ALDH5A1Uncertain significance-1RCV001972049; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452831524528315CT24528315-
NM_001080.3(ALDH5A1):c.1269C>T (p.Thr423=)7915ALDH5A1Likely benignrs1581824153RCV000908855; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452832024528320CT6:g.24528320C>T-
NM_001080.3(ALDH5A1):c.1277G>A (p.Cys426Tyr)7915ALDH5A1Uncertain significancers764512077RCV000689317; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452832824528328GANC_000006.11:g.24528328G>A-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser)7915ALDH5A1Uncertain significancers149793005RCV000557619|RCV000728020|RCV001821523; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN517202|MedGen:CN16937462452833124528331AGNC_000006.11:g.24528331A>GClinGen:CA3656896C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1285A>T (p.Thr429Ser)7915ALDH5A1Uncertain significancers1283096489RCV001071678; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452833624528336AT6:g.24528336A>T-
NM_001080.3(ALDH5A1):c.1294A>G (p.Met432Val)7915ALDH5A1Uncertain significancers1561879315RCV000694983; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452834524528345AGNC_000006.11:g.24528345A>G-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1298T>G (p.Leu433Arg)7915ALDH5A1Uncertain significancers1759857234RCV001226400; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452834924528349TG6:g.24528349T>G-
NM_001080.3(ALDH5A1):c.1299G>C (p.Leu433=)7915ALDH5A1Likely benign-1RCV001487309; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452835024528350GC24528350-
NM_001080.3(ALDH5A1):c.1308T>G (p.His436Gln)7915ALDH5A1Uncertain significancers199500997RCV000703396|RCV000729889|RCV001256157; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN517202|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002162452835924528359TGNC_000006.11:g.24528359T>G-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1308T>C (p.His436=)7915ALDH5A1Likely benign-1RCV002086110; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452835924528359TC24528359-
NM_001080.3(ALDH5A1):c.1310A>G (p.Glu437Gly)7915ALDH5A1Uncertain significance-1RCV001926153; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452836124528361AG24528361-
NM_001080.3(ALDH5A1):c.1314G>A (p.Glu438=)7915ALDH5A1Likely benignrs1471758596RCV000634950; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452836524528365GA6:g.24528365G>AClinGen:CA448787698C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile)7915ALDH5A1Uncertain significancers139633130RCV000422683|RCV000709920; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452836724528367CT6:g.24528367C>TClinGen:CA3656902CN169374 not specified;
NM_001080.3(ALDH5A1):c.1319T>C (p.Phe440Ser)7915ALDH5A1Uncertain significancers1759858234RCV001040230; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452837024528370TC6:g.24528370T>C-
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs)7915ALDH5A1Pathogenic/Likely pathogenicrs1561879345RCV000730699|RCV001855644; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452837124528372CCGNC_000006.11:g.24528374dup-
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=)7915ALDH5A1Uncertain significancers771829991RCV001157447; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452837124528371CT6:g.24528371C>T-
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser)7915ALDH5A1Uncertain significancers750638943RCV001312550; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452837524528375CT24528375-
NM_001080.3(ALDH5A1):c.1325C>G (p.Pro442Arg)7915ALDH5A1Uncertain significance-1RCV001370574|RCV001751730; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262452837624528376CG24528376-
NM_001080.3(ALDH5A1):c.1335A>G (p.Pro445=)7915ALDH5A1Likely benign-1RCV002098203; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452838624528386AG24528386-
NM_001080.3(ALDH5A1):c.1336G>C (p.Val446Leu)7915ALDH5A1Uncertain significance-1RCV001373853; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452838724528387GC24528387-
NM_001080.3(ALDH5A1):c.1338T>G (p.Val446=)7915ALDH5A1Likely benign-1RCV001464633; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452838924528389TG24528389-
NM_001080.3(ALDH5A1):c.1343_1344insTAA (p.Ile447_Lys448insAsn)7915ALDH5A1Likely pathogenic-1RCV002009495; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452839224528393CCAAT24528392-
NM_001080.3(ALDH5A1):c.1343+1G>T7915ALDH5A1Pathogenicrs1561879380RCV000001420; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452839524528395GT6:g.24528395G>TOMIM:610045.0001C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT7915ALDH5A1Pathogenic/Likely pathogenicrs875989801RCV000211103|RCV001355716; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262452839524528397GTATT6:g.24528396_24528397delClinGen:CA10576132C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1343+1G>A7915ALDH5A1Pathogenicrs1561879380RCV000714525; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452839524528395GANC_000006.11:g.24528395G>A-
NM_001080.3(ALDH5A1):c.1343+1del7915ALDH5A1Pathogenic-1RCV001807941; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452839524528395AGA24528394-
NM_001080.3(ALDH5A1):c.1343+4A>G7915ALDH5A1Uncertain significancers1554137990RCV000551232; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452839824528398AGNC_000006.11:g.24528398A>GClinGen:CA658657580C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1343+8C>A7915ALDH5A1Likely benignrs775916984RCV000981146; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452840224528402CA6:g.24528402C>A-
NM_001080.3(ALDH5A1):c.1343+15C>T7915ALDH5A1Likely benign-1RCV002216884; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452840924528409CT24528409-
NM_001080.3(ALDH5A1):c.1343+20G>A7915ALDH5A1Likely benign-1RCV002083748; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262452841424528414GA24528414-
NC_000006.11:g.(?_24532327)_(24533940_?)del7915ALDH5A1Pathogenic-1RCV001864128; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453232724533940nana-1-
NM_001080.3(ALDH5A1):c.1344-6T>C7915ALDH5A1Conflicting interpretations of pathogenicityrs368212282RCV000304780|RCV000503263|RCV001252142|RCV001706589; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN169374|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002162453234124532341TC6:g.24532341T>CClinGen:CA3656923CN169374 not specified;
NM_001080.3(ALDH5A1):c.1347C>T (p.Phe449=)7915ALDH5A1Likely benignrs192771358RCV000937178; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453235024532350CT6:g.24532350C>T-
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)7915ALDH5A1Conflicting interpretations of pathogenicityrs144177566RCV000359989|RCV000439066|RCV001086066; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453235124532351GA6:g.24532351G>AClinGen:CA3656925CN517202 not provided;
NM_001080.3(ALDH5A1):c.1350T>A (p.Asp450Glu)7915ALDH5A1Uncertain significancers913676708RCV000820154; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453235324532353TA6:g.24532353T>A-
NM_001080.3(ALDH5A1):c.1353A>C (p.Thr451=)7915ALDH5A1Likely benign-1RCV001397505; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453235624532356AC24532356-
NM_001080.3(ALDH5A1):c.1354G>C (p.Glu452Gln)7915ALDH5A1Uncertain significancers781336101RCV000813241; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453235724532357GC6:g.24532357G>C-
NM_001080.3(ALDH5A1):c.1355AGG[2] (p.Glu454del)7915ALDH5A1Uncertain significancers1759948859RCV001059475; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453235724532359AGAGA6:g.24532357_24532359del-
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=)7915ALDH5A1Conflicting interpretations of pathogenicityrs775722631RCV001157448; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453237724532377CT6:g.24532377C>T-
NM_001080.3(ALDH5A1):c.1375G>T (p.Ala459Ser)7915ALDH5A1Uncertain significancers749276622RCV000359752; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453237824532378GT6:g.24532378G>TClinGen:CA3656931C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1375G>A (p.Ala459Thr)7915ALDH5A1Uncertain significancers749276622RCV000818018; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453237824532378GA6:g.24532378G>A-
NM_001080.3(ALDH5A1):c.1380C>T (p.Asn460=)7915ALDH5A1Likely benignrs1191466061RCV000982914; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453238324532383CT6:g.24532383C>T-
NM_001080.3(ALDH5A1):c.1381G>A (p.Ala461Thr)7915ALDH5A1Uncertain significancers768957232RCV001041825; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453238424532384GA6:g.24532384G>A-
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=)7915ALDH5A1Benignrs58747567RCV000367251|RCV000535161|RCV001610784; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262453239224532392TC6:g.24532392T>CClinGen:CA3656933CN169374 not specified;
NM_001080.3(ALDH5A1):c.1391T>C (p.Val464Ala)7915ALDH5A1Uncertain significancers1243219538RCV001224987; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453239424532394TC6:g.24532394T>C-
NM_001080.3(ALDH5A1):c.1398A>G (p.Leu466=)7915ALDH5A1Likely benignrs1554138222RCV000549906; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453240124532401AG6:g.24532401A>GClinGen:CA448782261C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1402+1G>A7915ALDH5A1Pathogenicrs762290992RCV001040458; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453240624532406GA6:g.24532406G>A-
NM_001080.3(ALDH5A1):c.1402+1G>T7915ALDH5A1Pathogenic/Likely pathogenicrs762290992RCV001264821|RCV001726474; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262453240624532406GT6:g.24532406G>T-
NM_001080.3(ALDH5A1):c.1402+7G>A7915ALDH5A1Benignrs12211574RCV000265081|RCV001683414; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262453241224532412GA6:g.24532412G>AClinGen:CA3656936C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1403-20G>A7915ALDH5A1Likely benign-1RCV002096126; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453371524533715GA24533715-
NM_001080.3(ALDH5A1):c.1403-17_1403-15dup7915ALDH5A1Likely benign-1RCV002122367; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453371724533718CCCTT24533717-
NM_001080.3(ALDH5A1):c.1403-18C>A7915ALDH5A1Likely benign-1RCV002203131; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453371724533717CA24533717-
NM_001080.3(ALDH5A1):c.1412A>C (p.Tyr471Ser)7915ALDH5A1Uncertain significancers71555150RCV000696510; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453374424533744AC6:g.24533744A>C-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala)7915ALDH5A1Conflicting interpretations of pathogenicityrs142482046RCV000224179|RCV000678775|RCV001085262; NMedGen:CN517202|Human Phenotype Ontology:HP:0001346,Human Phenotype Ontology:HP:0002353,Human Phenotype Ontology:HP:0002429,Human Phenotype Ontology:HP:0006841,MedGen:C0151611|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453375324533753AC6:g.24533753A>CClinGen:CA3656951C1850452 Electroencephalogram (EEG) abnormalities;
NM_001080.3(ALDH5A1):c.1428C>T (p.Ala476=)7915ALDH5A1Likely benign-1RCV001440477; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453376024533760CT24533760-
NM_001080.3(ALDH5A1):c.1439G>A (p.Arg480Lys)7915ALDH5A1Uncertain significancers1055012664RCV000634929; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453377124533771GANC_000006.11:g.24533771G>AClinGen:CA136113698C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1456G>C (p.Glu486Gln)7915ALDH5A1Uncertain significancers1759977925RCV001151977; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453378824533788GC6:g.24533788G>C-
NM_001080.3(ALDH5A1):c.1462G>T (p.Gly488Cys)7915ALDH5A1Uncertain significancers1161171083RCV001345758; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453379424533794GT24533794-
NM_001080.3(ALDH5A1):c.1473C>T (p.Gly491=)7915ALDH5A1Likely benignrs369192820RCV000981018; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453380524533805CT6:g.24533805C>T-
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile)7915ALDH5A1Uncertain significancers151294087RCV000426165|RCV000634927; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453380624533806GA6:g.24533806G>AClinGen:CA3656957CN517202 not provided;
NM_001080.3(ALDH5A1):c.1475T>C (p.Val492Ala)7915ALDH5A1Uncertain significance-1RCV001875251; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453380724533807TC24533807-
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser)7915ALDH5A1Uncertain significancers776978579RCV000634939; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453381024533810AGNC_000006.11:g.24533810A>GClinGen:CA3656958C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=)7915ALDH5A1Benignrs200661931RCV000270607|RCV000550263|RCV001636845; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262453381124533811CT6:g.24533811C>TClinGen:CA3656959CN169374 not specified;
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys)7915ALDH5A1Uncertain significancers374232934RCV000634932; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453381224533812GA6:g.24533812G>AClinGen:CA3656960C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1488A>G (p.Leu496=)7915ALDH5A1Likely benign-1RCV002202749; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453382024533820AG24533820-
NM_001080.3(ALDH5A1):c.1506_1521dup (p.Lys508fs)7915ALDH5A1Pathogenicrs1759979356RCV001035870; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453382924533830TTGTGGAGTGCCCTTTTG6:g.24533829_24533830insGTGGAGTGCCCTTTTG-
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu)7915ALDH5A1Uncertain significance-1RCV001903565; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453383024533830GC24533830-
NM_001080.3(ALDH5A1):c.1506C>T (p.Cys502=)7915ALDH5A1Likely benign-1RCV001450317; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453383824533838CT24533838-
NM_001080.3(ALDH5A1):c.1514G>A (p.Gly505Asp)7915ALDH5A1Uncertain significancers1449304427RCV001213946|RCV001751394; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262453384624533846GA6:g.24533846G>A-
NM_001080.3(ALDH5A1):c.1515T>G (p.Gly505=)7915ALDH5A1Likely benign-1RCV002128714; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453384724533847TG24533847-
NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe)7915ALDH5A1Uncertain significancers578023593RCV000634940; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453386124533861CT6:g.24533861C>TClinGen:CA3656965C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1530C>T (p.Ser510=)7915ALDH5A1Likely benign-1RCV001416171; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453386224533862CT24533862-
NM_001080.3(ALDH5A1):c.1531G>A (p.Gly511Ser)7915ALDH5A1Uncertain significancers377658514RCV000539277; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453386324533863GANC_000006.11:g.24533863G>AClinGen:CA3656967C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1534C>G (p.Leu512Val)7915ALDH5A1Uncertain significance-1RCV001900582; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453386624533866CG24533866-
NM_001080.3(ALDH5A1):c.1535T>G (p.Leu512Arg)7915ALDH5A1Uncertain significancers752005255RCV000634934; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453386724533867TGNC_000006.11:g.24533867T>GClinGen:CA3656968C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1539G>A (p.Gly513=)7915ALDH5A1Likely benign-1RCV001484720; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453387124533871GA24533871-
NM_001080.3(ALDH5A1):c.1540C>T (p.Arg514Ter)7915ALDH5A1Pathogenic-1RCV001380780; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453387224533872CT24533872-
NM_001080.3(ALDH5A1):c.1541G>A (p.Arg514Gln)7915ALDH5A1Uncertain significancers1232923691RCV000707480; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453387324533873GANC_000006.11:g.24533873G>A-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1558G>A (p.Gly520Ser)7915ALDH5A1Uncertain significancers1179619995RCV000694933|RCV001771964; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262453389024533890GANC_000006.11:g.24533890G>A-C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.1562T>C (p.Ile521Thr)7915ALDH5A1Uncertain significance-1RCV001761350|RCV001868543; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453389424533894TC24533894-
NM_001080.3(ALDH5A1):c.1565A>G (p.Asp522Gly)7915ALDH5A1Uncertain significance-1RCV001765166|RCV002032819; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453389724533897AG24533897-
NM_001080.3(ALDH5A1):c.1569G>A (p.Glu523=)7915ALDH5A1Likely benign-1RCV001472645; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453390124533901GA24533901-
NM_001080.3(ALDH5A1):c.1576G>T (p.Glu526Ter)7915ALDH5A1Likely pathogenic-1RCV002032915; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453390824533908GT24533908-
NM_001080.3(ALDH5A1):c.1580T>C (p.Leu527Pro)7915ALDH5A1Uncertain significancers1467346651RCV001205675; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453391224533912TC6:g.24533912T>C-
NM_001080.3(ALDH5A1):c.1588G>C (p.Val530Leu)7915ALDH5A1Uncertain significance-1RCV001370847; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453392024533920GC24533920-
NM_001080.3(ALDH5A1):c.1591T>C (p.Cys531Arg)7915ALDH5A1Uncertain significance-1RCV001362658; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453392324533923TC24533923-
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr)7915ALDH5A1Uncertain significance-1RCV001910470; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453392424533924GA24533924-
NM_001080.3(ALDH5A1):c.1596C>T (p.Tyr532=)7915ALDH5A1Likely benign-1RCV001457471; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453392824533928CT24533928-
NM_001080.3(ALDH5A1):c.1597G>A (p.Gly533Arg)7915ALDH5A1Pathogenic/Likely pathogenicrs72552284RCV000489901|RCV001050829; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453392924533929GA6:g.24533929G>AClinGen:CA3656974CN517202 not provided;
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln)7915ALDH5A1Uncertain significancers201484501RCV000442797|RCV000798434; NMedGen:CN517202|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453393824533938TC6:g.24533938T>CClinGen:CA3656976CN169374 not specified;
NM_001080.3(ALDH5A1):c.1607A>T (p.Ter536Leu)7915ALDH5A1Uncertain significancers1338198433RCV000795821; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453393924533939AT6:g.24533939A>T-
NM_001080.3(ALDH5A1):c.*7T>C7915ALDH5A1Conflicting interpretations of pathogenicityrs199767765RCV000499872|RCV001151978|RCV001571825; NMedGen:CN169374|MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262453394724533947TCNC_000006.11:g.24533947T>CClinGen:CA3656980CN169374 not specified;
NM_001080.3(ALDH5A1):c.*40T>C7915ALDH5A1Likely benignrs146793715RCV000301415; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453398024533980TC6:g.24533980T>CClinGen:CA3656987C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*56C>T7915ALDH5A1Uncertain significancers182998380RCV000356247; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453399624533996CTNC_000006.11:g.24533996C>TClinGen:CA10621793C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*253C>A7915ALDH5A1Benignrs1054899RCV000261010|RCV001683415; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:22|MedGen:CN51720262453419324534193CANC_000006.11:g.24534193C>AClinGen:CA10621795C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*302G>A7915ALDH5A1Benignrs74807590RCV000316205; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453424224534242GANC_000006.11:g.24534242G>AClinGen:CA10621803C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*318C>T7915ALDH5A1Uncertain significancers748017937RCV000389478; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453425824534258CTNC_000006.11:g.24534258C>TClinGen:CA10626353C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*385G>C7915ALDH5A1Benignrs13218365RCV000276386; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453432524534325GCNC_000006.11:g.24534325G>CClinGen:CA10626356C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*472C>T7915ALDH5A1Uncertain significancers140376278RCV000331482; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453441224534412CTNC_000006.11:g.24534412C>TClinGen:CA10623527C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*550C>T7915ALDH5A1Uncertain significancers886061269RCV000386038; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453449024534490CTNC_000006.11:g.24534490C>TClinGen:CA10621804C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*563G>A7915ALDH5A1Uncertain significancers528167769RCV000291880; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453450324534503GANC_000006.11:g.24534503G>AClinGen:CA10626359C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*652_*655del7915ALDH5A1Uncertain significancers779688377RCV000346769; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453459024534593TAAAGTNC_000006.11:g.24534592_24534595delClinGen:CA10621807C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*659T>C7915ALDH5A1Uncertain significancers886061271RCV000380938; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453459924534599TCNC_000006.11:g.24534599T>CClinGen:CA10626361C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*696T>C7915ALDH5A1Uncertain significancers886061272RCV000286553; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453463624534636TCNC_000006.11:g.24534636T>CClinGen:CA10626362C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*765G>A7915ALDH5A1Benignrs11558625RCV000341418; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453470524534705GANC_000006.11:g.24534705G>AClinGen:CA10626363C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*784C>T7915ALDH5A1Likely benignrs115442722RCV001155839; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453472424534724CT6:g.24534724C>T-
NM_001080.3(ALDH5A1):c.*814G>T7915ALDH5A1Benignrs9461036RCV001155840; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453475424534754GT6:g.24534754G>T-
NM_001080.3(ALDH5A1):c.*942A>G7915ALDH5A1Uncertain significancers750171065RCV000396859; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453488224534882AGNC_000006.11:g.24534882A>GClinGen:CA10621809C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*960C>T7915ALDH5A1Uncertain significancers879652592RCV000301604; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453490024534900CTNC_000006.11:g.24534900C>TClinGen:CA10626364C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*970C>T7915ALDH5A1Uncertain significancers886061273RCV000337799; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453491024534910CTNC_000006.11:g.24534910C>TClinGen:CA10626365C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*980T>C7915ALDH5A1Uncertain significancers886061274RCV000398618; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453492024534920TCNC_000006.11:g.24534920T>CClinGen:CA10626515C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1033T>C7915ALDH5A1Uncertain significancers755282343RCV001157543; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453497324534973TC6:g.24534973T>C-
NM_001080.3(ALDH5A1):c.*1139C>G7915ALDH5A1Uncertain significancers933728436RCV001157544; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453507924535079CG6:g.24535079C>G-
NM_001080.3(ALDH5A1):c.*1221C>T7915ALDH5A1Uncertain significancers376290382RCV000298120; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453516124535161CTNC_000006.11:g.24535161C>TClinGen:CA10626368C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1230T>G7915ALDH5A1Uncertain significancers778833032RCV000353327; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453517024535170TGNC_000006.11:g.24535170T>GClinGen:CA10626516C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1239T>G7915ALDH5A1Likely benignrs191960134RCV000277246; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453517924535179TGNC_000006.11:g.24535179T>GClinGen:CA10623530C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1248C>G7915ALDH5A1Uncertain significancers183328132RCV001157545; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453518824535188CG6:g.24535188C>G-
NM_001080.3(ALDH5A1):c.*1249T>A7915ALDH5A1Likely benignrs149522807RCV000313547; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453518924535189TANC_000006.11:g.24535189T>AClinGen:CA10621814C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1267dup7915ALDH5A1Uncertain significancers886061275RCV000368211; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453520624535207CCANC_000006.11:g.24535207dupClinGen:CA10621815C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1268C>A7915ALDH5A1Benignrs12190214RCV000273856; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453520824535208CANC_000006.11:g.24535208C>AClinGen:CA10623531C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1286A>G7915ALDH5A1Benignrs9467217RCV001152076; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453522624535226AG6:g.24535226A>G-
NM_001080.3(ALDH5A1):c.*1294C>T7915ALDH5A1Benignrs114422378RCV001152077; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453523424535234CT6:g.24535234C>T-
NM_001080.3(ALDH5A1):c.*1322C>T7915ALDH5A1Uncertain significancers886061276RCV000328971; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453526224535262CTNC_000006.11:g.24535262C>TClinGen:CA10626518C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1349A>G7915ALDH5A1Likely benignrs542892289RCV000383431; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453528924535289AGNC_000006.11:g.24535289A>GClinGen:CA10623534C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1355C>T7915ALDH5A1Uncertain significancers138759652RCV000270340; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453529524535295CTNC_000006.11:g.24535295C>TClinGen:CA10621825C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1392C>A7915ALDH5A1Benignrs116311769RCV000325534; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453533224535332CANC_000006.11:g.24535332C>AClinGen:CA10626369C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1407A>G7915ALDH5A1Benignrs73386199RCV000380101; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453534724535347AGNC_000006.11:g.24535347A>GClinGen:CA10626519C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1422C>A7915ALDH5A1Uncertain significancers567445773RCV001152078; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453536224535362CA6:g.24535362C>A-
NM_001080.3(ALDH5A1):c.*1426T>C7915ALDH5A1Uncertain significancers574203430RCV001153342; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453536624535366TC6:g.24535366T>C-
NM_001080.3(ALDH5A1):c.*1473G>A7915ALDH5A1Benignrs75854500RCV001153343; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453541324535413GA6:g.24535413G>A-
NM_001080.3(ALDH5A1):c.*1485C>T7915ALDH5A1Uncertain significancers745486717RCV000285763; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453542524535425CTNC_000006.11:g.24535425C>TClinGen:CA10626520C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1515C>T7915ALDH5A1Likely benignrs368136060RCV000340769; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453545524535455CTNC_000006.11:g.24535455C>TClinGen:CA10621826C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1531A>G7915ALDH5A1Uncertain significancers886061277RCV000376759; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453547124535471AGNC_000006.11:g.24535471A>GClinGen:CA10626521C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1537G>C7915ALDH5A1Uncertain significancers1760023694RCV001153344; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453547724535477GC6:g.24535477G>C-
NM_001080.3(ALDH5A1):c.*1658C>T7915ALDH5A1Uncertain significancers775036676RCV001153345; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453559824535598CT6:g.24535598C>T-
NM_001080.3(ALDH5A1):c.*1674C>T7915ALDH5A1Uncertain significancers184664416RCV000280761; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453561424535614CTNC_000006.11:g.24535614C>TClinGen:CA10626377C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1840G>A7915ALDH5A1Benignrs2744602RCV000338129; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453578024535780GANC_000006.11:g.24535780G>AClinGen:CA10626523C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1851C>T7915ALDH5A1Uncertain significancers1038337724RCV001155954; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453579124535791CT6:g.24535791C>T-
NM_001080.3(ALDH5A1):c.*1877A>G7915ALDH5A1Likely benignrs41271787RCV001155955; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453581724535817AG6:g.24535817A>G-
NM_001080.3(ALDH5A1):c.*1883C>T7915ALDH5A1Likely benignrs139473699RCV000395584; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453582324535823CTNC_000006.11:g.24535823C>TClinGen:CA10623540C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*1918G>A7915ALDH5A1Uncertain significancers559549612RCV000279465; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453585824535858GANC_000006.11:g.24535858G>AClinGen:CA10626524C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2059C>T7915ALDH5A1Benignrs13196003RCV000350848; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453599924535999CTNC_000006.11:g.24535999C>TClinGen:CA10626525C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2097C>T7915ALDH5A1Uncertain significancers773800021RCV001155956; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453603724536037CT6:g.24536037C>T-
NM_001080.3(ALDH5A1):c.*2109A>G7915ALDH5A1Uncertain significancers560935505RCV001155957; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453604924536049AG6:g.24536049A>G-
NM_001080.3(ALDH5A1):c.*2115C>T7915ALDH5A1Benignrs34809203RCV000395593; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453605524536055CTNC_000006.11:g.24536055C>TClinGen:CA10626526C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2128A>G7915ALDH5A1Uncertain significancers1407401466RCV001157656; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453606824536068AG6:g.24536068A>G-
NM_001080.3(ALDH5A1):c.*2219T>C7915ALDH5A1Benignrs150916849RCV001157657; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453615924536159TC6:g.24536159T>C-
NM_001080.3(ALDH5A1):c.*2264G>T7915ALDH5A1Uncertain significancers1760039816RCV001157658; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453620424536204GT6:g.24536204G>T-
NM_001080.3(ALDH5A1):c.*2400G>C7915ALDH5A1Uncertain significancers745635354RCV000311121; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453634024536340GC6:g.24536340G>CClinGen:CA10626528C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2414G>A7915ALDH5A1Uncertain significancers886061278RCV000367955; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453635424536354GA6:g.24536354G>AClinGen:CA10626378C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2449A>G7915ALDH5A1Uncertain significancers886061279RCV000401966; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453638924536389AG6:g.24536389A>GClinGen:CA10626379C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2488G>A7915ALDH5A1Uncertain significancers1002588077RCV001157659; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453642824536428GA6:g.24536428G>A-
NM_001080.3(ALDH5A1):c.*2581T>C7915ALDH5A1Benignrs41271789RCV000309811; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453652124536521TC6:g.24536521T>CClinGen:CA10623542C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2597A>G7915ALDH5A1Benignrs150044083RCV001152189; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453653724536537AG6:g.24536537A>G-
NM_001080.3(ALDH5A1):c.*2675G>A7915ALDH5A1Uncertain significancers912565317RCV001152190; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453661524536615GA6:g.24536615G>A-
NM_001080.3(ALDH5A1):c.*2720C>A7915ALDH5A1Uncertain significancers560949465RCV000362227; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453666024536660CA6:g.24536660C>AClinGen:CA10626539C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2737G>A7915ALDH5A1Uncertain significancers146569813RCV001152191; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453667724536677GA6:g.24536677G>A-
NM_001080.3(ALDH5A1):c.*2766G>A7915ALDH5A1Benignrs13197086RCV000267293; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453670624536706GA6:g.24536706G>AClinGen:CA10626380C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2778del7915ALDH5A1Likely benignrs771652776RCV000324753; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453671624536716ATA6:g.24536716_24536716delClinGen:CA10623543C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2788C>G7915ALDH5A1Uncertain significancers1174814411RCV001152192; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453672824536728CG6:g.24536728C>G-
NM_001080.3(ALDH5A1):c.*2852C>G7915ALDH5A1Uncertain significancers560247554RCV000358428; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453679224536792CG6:g.24536792C>GClinGen:CA10621829C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2861G>A7915ALDH5A1Uncertain significancers886061280RCV000266075; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453680124536801GA6:g.24536801G>AClinGen:CA10623548C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*2869T>G7915ALDH5A1Uncertain significancers189158766RCV001153469; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453680924536809TG6:g.24536809T>G-
NM_001080.3(ALDH5A1):c.*2903C>T7915ALDH5A1Uncertain significancers532636189RCV001153470; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453684324536843CT6:g.24536843C>T-
NM_001080.3(ALDH5A1):c.*2985C>T7915ALDH5A1Benignrs114960321RCV000319031; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453692524536925CTNC_000006.11:g.24536925C>TClinGen:CA10626385C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*3120T>C7915ALDH5A1Uncertain significancers1201326402RCV001153471; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453706024537060TC6:g.24537060T>C-
NM_001080.3(ALDH5A1):c.*3146C>T7915ALDH5A1Uncertain significancers567288319RCV000375999; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453708624537086CTNC_000006.11:g.24537086C>TClinGen:CA10621830C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*3190A>G7915ALDH5A1Likely benignrs182106500RCV001153472; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453713024537130AG6:g.24537130A>G-
NM_001080.3(ALDH5A1):c.*3224C>G7915ALDH5A1Uncertain significancers886061281RCV000279174; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453716424537164CGNC_000006.11:g.24537164C>GClinGen:CA10621832C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*3253C>T7915ALDH5A1Uncertain significancers552086179RCV000317857; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453719324537193CTNC_000006.11:g.24537193C>TClinGen:CA10626547C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*3277C>T7915ALDH5A1Uncertain significancers886061282RCV000388233; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453721724537217CTNC_000006.11:g.24537217C>TClinGen:CA10626387C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency;
NM_001080.3(ALDH5A1):c.*3298A>G7915ALDH5A1Uncertain significancers968683849RCV001156068; NMONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980, Orphanet:2262453723824537238AG6:g.24537238A>G-
MSeqDR Portal