MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:317
Name:Adenylosuccinate lyase deficiency
Definition:
Alternative IDs:OMIM:103050
ParentIDs:MESH:D001321|MESH:D011686
TreeNumbers:C16.320.565.798/C538235 |C18.452.648.798/C538235 |F03.625.164.113.500/C538235
Synonyms:Adenylosuccinase deficiency |ADENYLOSUCCINATE LYASE DEFICIENCY |Adenylosuccinate lyase deficiency type 1 |Adenylosuccinate lyase deficiency type 2 |Adenylosuccinate lyase deficiency type 3 |Adenylosuccinate lyase deficiency type 4 |ADSLD |ADSL Deficiency |Succin
Slim Mappings:Genetic disease (inborn)|Mental disorder|Metabolic disease
Reference: MedGen: C538235
MeSH: C538235
OMIM: 103050;
MSeqDR LSDB:  
Genes: ADSL; CYP17A1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0000718Aggressive behavior
4 HP:0000463Anteverted nares
5 HP:0000717Autism
NAMDC:  Autism
6 HP:0000248Brachycephaly
7 HP:0001348Brisk reflexes
8 HP:0001272Cerebellar atrophy
9 HP:0002059Cerebral atrophy
10 HP:0006808Cerebral hypomyelination
11 HP:0003429CNS hypomyelination
12 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
13 HP:0002066Gait ataxia
14 HP:0001290Generalized hypotonia
15 HP:0001263Global developmental delay
NAMDC:  Mental retardation
16 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
17 HP:0001510Growth delay
NAMDC:  Growth delay
18 HP:0040082Happy demeanorHP:0040283
19 HP:0000752Hyperactivity
20 HP:0002540Inability to walk
21 HP:0000748Inappropriate laughter
22 HP:0001249Intellectual disability
23 HP:0000343Long philtrum
24 HP:0000369Low-set ears
25 HP:0000252MicrocephalyHP:0040283
26 HP:0001336Myoclonus
NAMDC:  Myoclonus
27 HP:0000639Nystagmus
28 HP:0002179Opisthotonus
29 HP:0000817Poor eye contact
30 HP:0005487Prominent metopic ridge
31 HP:0001250Seizures
NAMDC:  Seizures
32 HP:0000742Self-mutilation
33 HP:0011344Severe global developmental delay
34 HP:0003196Short nose
35 HP:0003202Skeletal muscle atrophy
36 HP:0000319Smooth philtrum
37 HP:0000486Strabismus
38 HP:0000219Thin upper lip vermilion
39 HP:0000154Wide mouth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000022.10:g.(?_39621728)_(41077932_?)dup158ADSLUncertain significance-1RCV001910122; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46223962172841077932nana-1-
NC_000022.10:g.40741466C>T158ADSLUncertain significance-1RCV001908672; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074146640741466CT40741466-
NC_000022.10:g.40741476C>T158ADSLUncertain significance-1RCV001912018; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074147640741476CT40741476-
NC_000022.10:g.40741477G>A158ADSLUncertain significance-1RCV001909183; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074147740741477GA40741477-
NC_000022.10:g.40741485C>T158ADSLUncertain significance-1RCV001901336; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074148540741485CT40741485-
NC_000022.10:g.40741488A>C158ADSLUncertain significance-1RCV001999475; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074148840741488AC40741488-
NC_000022.10:g.40741499T>C158ADSLUncertain significance-1RCV001945369; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074149940741499TC40741499-
NC_000022.10:g.40741502_40741503insA158ADSLBenign-1RCV001518384; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074150240741503TTA40741502-
NC_000022.10:g.40741506G>A158ADSLUncertain significance-1RCV002026897; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074150640741506GA40741506-
NC_000022.10:g.40741511A>T158ADSLUncertain significance-1RCV001994914; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074151140741511AT40741511-
NC_000022.10:g.40741517A>C158ADSLUncertain significance-1RCV001891674; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074151740741517AC40741517-
NC_000022.10:g.40741520C>T158ADSLBenign-1RCV001515756; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074152040741520CT40741520-
NC_000022.10:g.40741534C>T158ADSLUncertain significance-1RCV002018567; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074153440741534CT40741534-
NC_000022.10:g.40741548T>C158ADSLUncertain significance-1RCV001995005; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074154840741548TC40741548-
NC_000022.10:g.40741564T>C158ADSLUncertain significance-1RCV001911031; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074156440741564TC40741564-
NC_000022.10:g.40741567C>T158ADSLUncertain significance-1RCV001914936; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074156740741567CT40741567-
NC_000022.10:g.40741570G>T158ADSLUncertain significance-1RCV001988502; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074157040741570GT40741570-
NC_000022.10:g.40741572C>A158ADSLUncertain significance-1RCV002004322; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074157240741572CA40741572-
NC_000022.10:g.40741591A>G158ADSLUncertain significance-1RCV002027468; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159140741591AG40741591-
NC_000022.10:g.40741592A>G158ADSLBenign-1RCV001516263; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159240741592AG40741592-
NC_000022.10:g.40741592_40741593insAAAAG158ADSLBenign-1RCV001523319; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159240741593AAAAAAG40741592-
NC_000022.10:g.40741592_40741593insGG158ADSLBenign-1RCV001512314; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159240741593AAGG40741592-
NC_000022.10:g.40741592_40741593insAAAAAAAGG158ADSLBenign-1RCV002215174; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159240741593AAAAAAAAAGG40741592-
NC_000022.10:g.40741592_40741593insAG158ADSLBenign-1RCV002204990; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159240741593AAAG40741592-
NC_000022.10:g.40741593G>A158ADSLBenign-1RCV001523322; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159340741593GA40741593-
NC_000022.10:g.40741593del158ADSLBenign-1RCV002117904; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159340741593AGA40741592-
NC_000022.10:g.40741594G>T158ADSLUncertain significance-1RCV001971139; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159440741594GT40741594-
NC_000022.10:g.40741594G>A158ADSLUncertain significance-1RCV001886568; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159440741594GA40741594-
NC_000022.10:g.40741594G>C158ADSLLikely benign-1RCV002114644; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159440741594GC40741594-
NC_000022.10:g.40741596G>A158ADSLUncertain significance-1RCV002023447; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159640741596GA40741596-
NC_000022.10:g.40741599G>T158ADSLUncertain significance-1RCV001966498; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074159940741599GT40741599-
NC_000022.10:g.40741601G>A158ADSLUncertain significance-1RCV002049097; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074160140741601GA40741601-
NC_000022.10:g.40741601G>T158ADSLUncertain significance-1RCV001969399; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074160140741601GT40741601-
NC_000022.10:g.40741602C>G158ADSLUncertain significance-1RCV002030322; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074160240741602CG40741602-
NC_000022.10:g.40741608G>A158ADSLUncertain significance-1RCV002004239; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074160840741608GA40741608-
NC_000022.10:g.40741617_40741618del158ADSLBenign-1RCV001523323; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074161740741618CTAC40741616-
NC_000022.10:g.40741623_40741626del158ADSLUncertain significance-1RCV002047241; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074162340741626CTATTC40741622-
NC_000022.10:g.40741628A>C158ADSLUncertain significance-1RCV002006207; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074162840741628AC40741628-
NC_000022.10:g.40741635T>C158ADSLUncertain significance-1RCV001996201; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074163540741635TC40741635-
NC_000022.10:g.40741637_40741638insT158ADSLUncertain significance-1RCV002013646; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074163740741638AAT40741637-
NC_000022.10:g.40741638_40741641del158ADSLUncertain significance-1RCV002050710; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074163840741641ATTCTA40741637-
NC_000022.10:g.40741638T>C158ADSLUncertain significance-1RCV002016755; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074163840741638TC40741638-
NC_000022.10:g.40741639T>C158ADSLUncertain significance-1RCV001949103; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074163940741639TC40741639-
NC_000022.10:g.40741640C>T158ADSLBenign-1RCV001522299; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074164040741640CT40741640-
NC_000022.10:g.40741643T>C158ADSLUncertain significance-1RCV001894373; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074164340741643TC40741643-
NC_000022.10:g.40741645_40741646insT158ADSLUncertain significance-1RCV002042531; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074164540741646AAT40741645-
NC_000022.10:g.40741647T>C158ADSLUncertain significance-1RCV002019323; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074164740741647TC40741647-
NC_000022.10:g.40741665C>T158ADSLUncertain significance-1RCV002002658; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074166540741665CT40741665-
NC_000022.10:g.40741673C>T158ADSLUncertain significance-1RCV001878450; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074167340741673CT40741673-
NC_000022.10:g.40741680G>A158ADSLUncertain significance-1RCV001864202; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074168040741680GA40741680-
NC_000022.10:g.40741687T>G158ADSLUncertain significance-1RCV001918146; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074168740741687TG40741687-
NC_000022.10:g.40741690A>G158ADSLUncertain significance-1RCV002017739; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074169040741690AG40741690-
NC_000022.10:g.40741698G>A158ADSLUncertain significance-1RCV002014338; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074169840741698GA40741698-
NC_000022.10:g.40741701C>T158ADSLUncertain significance-1RCV001947449; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074170140741701CT40741701-
NC_000022.10:g.40741702del158ADSLUncertain significance-1RCV001964450; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074170240741702CTC40741701-
NC_000022.10:g.40741709A>T158ADSLUncertain significance-1RCV001913254; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074170940741709AT40741709-
NC_000022.10:g.40741713C>A158ADSLUncertain significance-1RCV001979799; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074171340741713CA40741713-
NC_000022.10:g.40741720C>T158ADSLUncertain significance-1RCV001975798; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074172040741720CT40741720-
NC_000022.10:g.40741746T>A158ADSLUncertain significance-1RCV001970795; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074174640741746TA40741746-
NC_000022.10:g.40741768G>A158ADSLUncertain significance-1RCV002023854; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074176840741768GA40741768-
NC_000022.10:g.40741774A>G158ADSLUncertain significance-1RCV001894164; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074177440741774AG40741774-
NC_000022.10:g.40741801_40741802insT158ADSLUncertain significance-1RCV002035137; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074180140741802AAT40741801-
NC_000022.10:g.40741809T>C158ADSLUncertain significance-1RCV001976238; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074180940741809TC40741809-
NC_000022.10:g.40741821G>C158ADSLBenign-1RCV001512252; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074182140741821GC40741821-
NC_000022.10:g.40741824del158ADSLUncertain significance-1RCV001870749; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074182440741824CAC40741823-
NC_000022.10:g.40741834G>C158ADSLUncertain significance-1RCV001875498; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074183440741834GC40741834-
NC_000022.10:g.40741859C>G158ADSLUncertain significance-1RCV002047653; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074185940741859CG40741859-
NC_000022.10:g.40741877G>C158ADSLUncertain significance-1RCV002011403; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074187740741877GC40741877-
NC_000022.10:g.40741889C>G158ADSLUncertain significance-1RCV001931141; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074188940741889CG40741889-
NC_000022.10:g.40741891C>T158ADSLUncertain significance-1RCV001373493; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074189140741891CT40741891-
NC_000022.10:g.40741893C>T158ADSLBenign-1RCV002124697; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074189340741893CT40741893-
NC_000022.10:g.40741909C>T158ADSLUncertain significance-1RCV002022998; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074190940741909CT40741909-
NC_000022.10:g.40741923C>T158ADSLUncertain significance-1RCV002019368; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074192340741923CT40741923-
NC_000022.10:g.40741931G>A158ADSLUncertain significance-1RCV002001120; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074193140741931GA40741931-
NC_000022.10:g.40741935A>G158ADSLUncertain significance-1RCV001867461; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074193540741935AG40741935-
NC_000022.10:g.40741937T>C158ADSLUncertain significance-1RCV001913349; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074193740741937TC40741937-
NC_000022.10:g.40741938G>A158ADSLUncertain significance-1RCV001373666; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074193840741938GA40741938-
NC_000022.10:g.40741956G>T158ADSLUncertain significance-1RCV002019479; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074195640741956GT40741956-
NC_000022.10:g.40741962C>T158ADSLUncertain significance-1RCV002049971; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074196240741962CT40741962-
NC_000022.10:g.40741972C>G158ADSLUncertain significance-1RCV001874608; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074197240741972CG40741972-
NC_000022.10:g.40741973_40741974del158ADSLUncertain significance-1RCV001994451; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074197340741974CTTC40741972-
NC_000022.10:g.40741975C>T158ADSLUncertain significance-1RCV001958142; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074197540741975CT40741975-
NC_000022.10:g.40741976A>G158ADSLUncertain significance-1RCV001925013; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074197640741976AG40741976-
NC_000022.10:g.40741992G>C158ADSLBenign-1RCV002087883; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074199240741992GC40741992-
NC_000022.10:g.40741997C>T158ADSLUncertain significance-1RCV002050292; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074199740741997CT40741997-
NC_000022.10:g.40741998G>C158ADSLUncertain significance-1RCV001866379; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074199840741998GC40741998-
NC_000022.10:g.40742001G>A158ADSLUncertain significance-1RCV002014349; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074200140742001GA40742001-
NC_000022.10:g.40742003G>C158ADSLUncertain significance-1RCV002017383; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074200340742003GC40742003-
NC_000022.10:g.40742008G>A158ADSLUncertain significance-1RCV001957502; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074200840742008GA40742008-
NC_000022.10:g.40742020G>A158ADSLUncertain significance-1RCV001920279; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074202040742020GA40742020-
NC_000022.10:g.40742023G>A158ADSLUncertain significance-1RCV002035990; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074202340742023GA40742023-
NC_000022.10:g.40742026C>A158ADSLUncertain significance-1RCV002051028; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074202640742026CA40742026-
NC_000022.10:g.40742036_40742037del158ADSLUncertain significance-1RCV001983791; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074203640742037TAAT40742035-
NC_000022.10:g.40742041_40742042insA158ADSLUncertain significance-1RCV002001696; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074204140742042TTA40742041-
NC_000022.10:g.40742053T>C158ADSLUncertain significance-1RCV001899822; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074205340742053TC40742053-
NC_000022.10:g.40742062C>A158ADSLUncertain significance-1RCV001873980; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074206240742062CA40742062-
NC_000022.10:g.40742062C>T158ADSLBenign-1RCV002194677; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074206240742062CT40742062-
NC_000022.10:g.40742064T>C158ADSLUncertain significancers998527385RCV001352625; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074206440742064TC40742064-
NC_000022.10:g.40742067C>T158ADSLUncertain significance-1RCV001943065; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074206740742067CT40742067-
NC_000022.10:g.40742069_40742071del158ADSLUncertain significance-1RCV002013105; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074206940742071AAGTA40742068-
NC_000022.10:g.40742093C>T158ADSLUncertain significance-1RCV001954074; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074209340742093CT40742093-
NC_000022.10:g.40742108C>G158ADSLUncertain significance-1RCV001905632; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074210840742108CG40742108-
NC_000022.10:g.40742120C>A158ADSLUncertain significance-1RCV001971806; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074212040742120CA40742120-
NC_000022.10:g.40742145T>A158ADSLUncertain significance-1RCV001954637; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074214540742145TA40742145-
NC_000022.10:g.40742147T>C158ADSLUncertain significance-1RCV001984702; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074214740742147TC40742147-
NC_000022.10:g.40742162C>T158ADSLUncertain significance-1RCV001979427; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074216240742162CT40742162-
NC_000022.10:g.40742162del158ADSLUncertain significance-1RCV001985180; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074216240742162ACA40742161-
NC_000022.10:g.40742169G>T158ADSLUncertain significance-1RCV002008120; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074216940742169GT40742169-
NC_000022.10:g.40742171C>T158ADSLLikely benign-1RCV002182427; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074217140742171CT40742171-
NC_000022.10:g.40742192G>C158ADSLUncertain significance-1RCV001894131; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074219240742192GC40742192-
NC_000022.10:g.40742193T>G158ADSLUncertain significance-1RCV001908478; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074219340742193TG40742193-
NC_000022.10:g.40742232C>G158ADSLUncertain significance-1RCV001971678; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074223240742232CG40742232-
NC_000022.10:g.40742234C>G158ADSLUncertain significance-1RCV001983328; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074223440742234CG40742234-
NC_000022.10:g.40742244T>C158ADSLUncertain significance-1RCV001959424; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074224440742244TC40742244-
NC_000022.10:g.40742251A>G158ADSLUncertain significance-1RCV001910393; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074225140742251AG40742251-
NC_000022.10:g.40742257G>A158ADSLLikely benign-1RCV002074669; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074225740742257GA40742257-
NC_000022.10:g.40742273G>A158ADSLUncertain significance-1RCV001955209; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074227340742273GA40742273-
NC_000022.10:g.40742280G>A158ADSLUncertain significance-1RCV001915551; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074228040742280GA40742280-
NC_000022.10:g.40742284T>A158ADSLUncertain significance-1RCV002027383; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074228440742284TA40742284-
NC_000022.10:g.40742293A>G158ADSLUncertain significance-1RCV001910234; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074229340742293AG40742293-
NC_000022.10:g.40742309G>A158ADSLUncertain significance-1RCV001927523; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074230940742309GA40742309-
NC_000022.10:g.40742317A>C158ADSLUncertain significance-1RCV001990611; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074231740742317AC40742317-
NC_000022.10:g.40742327C>A158ADSLUncertain significance-1RCV001918883; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074232740742327CA40742327-
NC_000022.10:g.40742328G>A158ADSLUncertain significance-1RCV001903330; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074232840742328GA40742328-
NC_000022.10:g.40742333A>C158ADSLUncertain significance-1RCV001928900; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074233340742333AC40742333-
NC_000022.10:g.40742343G>A158ADSLUncertain significance-1RCV001867577; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074234340742343GA40742343-
NC_000022.10:g.40742357G>A158ADSLUncertain significance-1RCV002005113; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074235740742357GA40742357-
NC_000022.10:g.40742361C>A158ADSLUncertain significance-1RCV002037107; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074236140742361CA40742361-
NC_000022.10:g.40742362T>C158ADSLUncertain significance-1RCV001894169; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074236240742362TC40742362-
NC_000022.10:g.40742364G>A158ADSLUncertain significance-1RCV001919554; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074236440742364GA40742364-
NC_000022.10:g.40742375G>C158ADSLUncertain significance-1RCV001992719; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074237540742375GC40742375-
NC_000022.10:g.40742375G>T158ADSLUncertain significance-1RCV002005948; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074237540742375GT40742375-
NC_000022.10:g.40742378C>G158ADSLUncertain significance-1RCV002011504; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074237840742378CG40742378-
NC_000022.10:g.40742381A>C158ADSLUncertain significance-1RCV001953233; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074238140742381AC40742381-
NC_000022.10:g.40742381A>T158ADSLUncertain significance-1RCV002019828; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074238140742381AT40742381-
NC_000022.10:g.40742385A>C158ADSLUncertain significance-1RCV001886299; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074238540742385AC40742385-
NC_000022.10:g.40742390T>A158ADSLUncertain significance-1RCV001949043; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074239040742390TA40742390-
NC_000022.10:g.40742404C>A158ADSLUncertain significance-1RCV001923961; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074240440742404CA40742404-
NC_000022.10:g.40742405G>T158ADSLUncertain significance-1RCV002024310; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074240540742405GT40742405-
NC_000022.10:g.40742406G>C158ADSLUncertain significance-1RCV001953140; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074240640742406GC40742406-
NC_000022.10:g.40742406G>A158ADSLUncertain significance-1RCV001943686; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074240640742406GA40742406-
NC_000022.10:g.40742412C>A158ADSLUncertain significance-1RCV001923948; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074241240742412CA40742412-
NC_000022.10:g.40742413T>C158ADSLUncertain significance-1RCV001876371; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074241340742413TC40742413-
NC_000022.10:g.40742416G>C158ADSLUncertain significance-1RCV001955323; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074241640742416GC40742416-
NC_000022.11:g.40346413C>T158ADSLBenignrs909669RCV000829785|RCV001517151; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074241740742417CT22:g.40742417C>T-
NC_000022.10:g.40742421C>T158ADSLUncertain significance-1RCV001920729; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074242140742421CT40742421-
NC_000022.10:g.40742422G>C158ADSLUncertain significance-1RCV001939722; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074242240742422GC40742422-
NC_000022.10:g.40742426G>C158ADSLUncertain significance-1RCV001974105; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074242640742426GC40742426-
NC_000022.10:g.40742428G>A158ADSLUncertain significance-1RCV002020243; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074242840742428GA40742428-
NC_000022.10:g.40742431C>G158ADSLUncertain significance-1RCV001969717; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074243140742431CG40742431-
NC_000022.10:g.40742436C>A158ADSLUncertain significance-1RCV002043713; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074243640742436CA40742436-
NC_000022.10:g.40742436C>G158ADSLUncertain significance-1RCV001900239; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074243640742436CG40742436-
NC_000022.10:g.40742436C>T158ADSLLikely benign-1RCV002105032; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074243640742436CT40742436-
NC_000022.10:g.40742437G>A158ADSLUncertain significance-1RCV001902221; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074243740742437GA40742437-
NC_000022.10:g.40742442G>C158ADSLUncertain significance-1RCV002028864; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074244240742442GC40742442-
NC_000022.10:g.40742447C>G158ADSLUncertain significance-1RCV001922773; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074244740742447CG40742447-
NC_000022.10:g.40742453G>C158ADSLUncertain significance-1RCV002051327; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074245340742453GC40742453-
NC_000022.10:g.40742460C>G158ADSLUncertain significance-1RCV001955426; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074246040742460CG40742460-
NC_000022.10:g.40742460C>A158ADSLUncertain significance-1RCV001938068; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074246040742460CA40742460-
NC_000022.10:g.40742473_40742474insCCCGC158ADSLBenign-1RCV002114507; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074247340742474TTCCCGC40742473-
NC_000022.10:g.40742478C>A158ADSLUncertain significance-1RCV001932915; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074247840742478CA40742478-
NC_000022.10:g.40742481_40742482insGCCCCGTCCT158ADSLUncertain significance-1RCV001933546; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074248140742482CCGCCCCGTCCT40742481-
NC_000022.10:g.40742482G>C158ADSLUncertain significance-1RCV001879033; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074248240742482GC40742482-
NC_000022.10:g.40742487_40742496del158ADSLUncertain significance-1RCV001897792; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074248740742496CGTCCTGCCCTC40742486-
NC_000022.10:g.40742487G>A158ADSLUncertain significance-1RCV001963612; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074248740742487GA40742487-
NC_000022.10:g.40742492G>A158ADSLUncertain significance-1RCV002042069; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074249240742492GA40742492-
NC_000022.10:g.40742493C>G158ADSLUncertain significance-1RCV001972934; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074249340742493CG40742493-
NC_000022.10:g.40742493C>T158ADSLUncertain significance-1RCV001863574; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074249340742493CT40742493-
NC_000022.10:g.40742497G>A158ADSLUncertain significance-1RCV001892467; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074249740742497GA40742497-
NC_000022.11:g.40346495C>A158ADSLUncertain significancers576843830RCV001146692; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074249940742499CA22:g.40742499C>A-
NM_000026.4(ADSL):c.-56T>A158ADSLUncertain significance-1RCV001913565; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074250740742507TA40742507-
NC_000022.10:g.(?_40742514)_(40762546_?)dup158ADSLUncertain significance-1RCV000536272; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074251440762546nana-C0268126 103050 Adenylosuccinate lyase deficiency;
NC_000022.11:g.(?_40346510)_(40353137_?)dup158ADSLUncertain significance-1RCV001031566; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074251440749141nana-1-
NC_000022.11:g.(?_40346510)_(40366542_?)del158ADSLPathogenic-1RCV001032158; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074251440762546nana-1-
NM_000026.4(ADSL):c.-49T>C158ADSLLikely pathogenicrs1272053459RCV001266879|RCV002221270; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074251440742514TC22:g.40742514T>COMIM:608222.0007
NC_000022.10:g.(?_40742514)_(40762526_?)del158ADSLPathogenic-1RCV001380702; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074251440762526nana-1-
NM_000026.4(ADSL):c.-44C>G158ADSLUncertain significance-1RCV001911814; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074251940742519CG40742519-
NM_000026.4(ADSL):c.-37C>G158ADSLConflicting interpretations of pathogenicityrs372357778RCV000425428|RCV001861602; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074252640742526CG22:g.40742526C>GClinGen:CA10247561CN169374 not specified;
NM_000026.4(ADSL):c.-35G>T158ADSLUncertain significancers750649096RCV000277016; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074252840742528GTNC_000022.10:g.40742528G>TClinGen:CA10247562C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.-35G>C158ADSLUncertain significance-1RCV001911041; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074252840742528GC40742528-
NM_000026.4(ADSL):c.-32C>T158ADSLUncertain significance-1RCV002017170; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074253140742531CT40742531-
NM_000026.4(ADSL):c.-31C>T158ADSLUncertain significance-1RCV001986150; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074253240742532CT40742532-
NM_000026.4(ADSL):c.-29G>C158ADSLUncertain significancers2044143205RCV001146693; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074253440742534GC22:g.40742534G>C-
NM_000026.4(ADSL):c.-27C>A158ADSLUncertain significance-1RCV001911033; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074253640742536CA40742536-
NM_000026.4(ADSL):c.-23C>T158ADSLBenign-1RCV002178175; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074254040742540CT40742540-
NM_000026.4(ADSL):c.-20G>T158ADSLUncertain significance-1RCV001947971; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074254340742543GT40742543-
NM_000026.4(ADSL):c.-18C>A158ADSLUncertain significance-1RCV001981766; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074254540742545CA40742545-
NM_000026.4(ADSL):c.-12C>T158ADSLUncertain significancers775388314RCV001323269; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074255140742551CT40742551-
NM_000026.4(ADSL):c.-11G>T158ADSLUncertain significance-1RCV002021896; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074255240742552GT40742552-
NM_000026.4(ADSL):c.5C>T (p.Ala2Val)158ADSLConflicting interpretations of pathogenicityrs143083947RCV000186704|RCV001363283; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074256740742567CTNC_000022.10:g.40742567C>TClinGen:CA313131,UniProtKB:P30566#VAR_016930
NM_000026.4(ADSL):c.7G>A (p.Ala3Thr)158ADSLUncertain significance-1RCV001920953; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074256940742569GA40742569-
NM_000026.4(ADSL):c.8C>G (p.Ala3Gly)158ADSLUncertain significancers2044145822RCV001060867; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074257040742570CG22:g.40742570C>G-
NM_000026.4(ADSL):c.9T>C (p.Ala3=)158ADSLLikely benignrs758676257RCV000605501|RCV001448851; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074257140742571TC22:g.40742571T>CClinGen:CA10247577CN169374 not specified;
NM_000026.4(ADSL):c.10G>A (p.Gly4Arg)158ADSLUncertain significance-1RCV002045005; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074257240742572GA40742572-
NM_000026.4(ADSL):c.11G>T (p.Gly4Val)158ADSLUncertain significancers766546584RCV000728371|RCV001363640; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074257340742573GTNC_000022.10:g.40742573G>T-
NM_000026.4(ADSL):c.11G>C (p.Gly4Ala)158ADSLUncertain significance-1RCV002038035; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074257340742573GC40742573-
NM_000026.4(ADSL):c.15C>T (p.Gly5=)158ADSLUncertain significancers751781160RCV001046467; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074257740742577CT22:g.40742577C>T-
NM_000026.4(ADSL):c.15C>A (p.Gly5=)158ADSLLikely benign-1RCV002075513; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074257740742577CA40742577-
NM_000026.4(ADSL):c.16G>C (p.Asp6His)158ADSLUncertain significancers140064577RCV000327088|RCV000551429; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074257840742578GC22:g.40742578G>CClinGen:CA10247581C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.17A>T (p.Asp6Val)158ADSLUncertain significancers1314470860RCV001338365; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074257940742579AT40742579-
NM_000026.4(ADSL):c.19C>G (p.His7Asp)158ADSLUncertain significance-1RCV001898042; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074258140742581CG40742581-
NM_000026.4(ADSL):c.20A>G (p.His7Arg)158ADSLUncertain significancers377248090RCV000436772|RCV001202411; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074258240742582AGNC_000022.10:g.40742582A>GClinGen:CA10247585
NM_000026.4(ADSL):c.27G>T (p.Ser9=)158ADSLBenign/Likely benignrs146873132RCV000123549|RCV000868944; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074258940742589GT22:g.40742589G>TClinGen:CA289318CN169374 not specified;
NM_000026.4(ADSL):c.28C>G (p.Pro10Ala)158ADSLUncertain significance-1RCV002006925; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074259040742590CG40742590-
NM_000026.4(ADSL):c.31G>C (p.Asp11His)158ADSLUncertain significance-1RCV002022422; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074259340742593GC40742593-
NM_000026.4(ADSL):c.32A>T (p.Asp11Val)158ADSLUncertain significancers368501116RCV000439143|RCV001044398; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074259440742594ATNC_000022.10:g.40742594A>TClinGen:CA10247591
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg)158ADSLUncertain significancers773098808RCV000697335; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074259840742598CANC_000022.10:g.40742598C>A-C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys)158ADSLUncertain significancers766465184RCV000727459|RCV001228393; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074260240742602CTNC_000022.10:g.40742602C>TClinGen:CA313132
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu)158ADSLUncertain significancers371824098RCV000812500; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074260340742603GT22:g.40742603G>T-
NM_000026.4(ADSL):c.46C>T (p.Pro16Ser)158ADSLUncertain significance-1RCV001365148; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074260840742608CT40742608-
NM_000026.4(ADSL):c.47C>T (p.Pro16Leu)158ADSLUncertain significancers541051390RCV001317495; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074260940742609CT40742609-
NM_000026.4(ADSL):c.49C>T (p.Leu17Phe)158ADSLUncertain significancers1262658484RCV001238846; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074261140742611CT22:g.40742611C>T-
NM_000026.4(ADSL):c.51T>A (p.Leu17=)158ADSLUncertain significance-1RCV001912736; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074261340742613TA40742613-
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)158ADSLUncertain significancers1257907226RCV000634534; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074263340742633CTNC_000022.10:g.40742633C>TClinGen:CA411632693C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.72G>A (p.Pro24=)158ADSLLikely benignrs1279175740RCV000526907|RCV001441240; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074263440742634GANC_000022.10:g.40742634G>AClinGen:CA514611941C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.78G>A (p.Met26Ile)158ADSLUncertain significance-1RCV001918325; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074264040742640GA40742640-
NM_000026.4(ADSL):c.100T>C (p.Tyr34His)158ADSLUncertain significancers1434292876RCV001325958; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074266240742662TC40742662-
NM_000026.4(ADSL):c.114A>G (p.Thr38=)158ADSLLikely benignrs377588571RCV000440282|RCV000864978|RCV001505307; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074267640742676AG22:g.40742676A>GClinGen:CA10247607CN169374 not specified;
NM_000026.4(ADSL):c.124C>T (p.Leu42=)158ADSLBenignrs2228415RCV000116237|RCV000226786; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074268640742686CT22:g.40742686C>TClinGen:CA288666C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.129G>C (p.Trp43Cys)158ADSLUncertain significance-1RCV002034225; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074269140742691GC40742691-
NM_000026.4(ADSL):c.135G>A (p.Trp45Ter)158ADSLPathogenicrs774435749RCV001220597; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074269740742697GA22:g.40742697G>A-
NM_000026.4(ADSL):c.140C>T (p.Ala47Val)158ADSLUncertain significancers759704594RCV001225588; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074270240742702CT22:g.40742702C>T-
NM_000026.4(ADSL):c.146C>T (p.Ala49Val)158ADSLUncertain significance-1RCV001917527; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074270840742708CT40742708-
NM_000026.4(ADSL):c.151C>T (p.Gln51Ter)158ADSLPathogenic-1RCV001956156; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074271340742713CT40742713-
NM_000026.4(ADSL):c.153G>A (p.Gln51=)158ADSLUncertain significancers1214023402RCV001223265; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074271540742715GA22:g.40742715G>A-
NM_000026.4(ADSL):c.153+7G>A158ADSLLikely benignrs376477242RCV000443684|RCV002060063; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074272240742722GA22:g.40742722G>AClinGen:CA10247618CN169374 not specified;
NM_000026.4(ADSL):c.153+10C>A158ADSLLikely benign-1RCV002135010; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074272540742725CA40742725-
NM_000026.4(ADSL):c.153+12C>T158ADSLLikely benign-1RCV002149725; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074272740742727CT40742727-
NM_000026.4(ADSL):c.153+17T>C158ADSLLikely benign-1RCV002108168; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074273240742732TC40742732-
NM_000026.4(ADSL):c.153+19A>G158ADSLLikely benign-1RCV002111830; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074273440742734AG40742734-
NM_000026.4(ADSL):c.154-9A>G158ADSLLikely benignrs762257005RCV000879521; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074582740745827AG22:g.40745827A>G-
NM_000026.4(ADSL):c.154-7del158ADSLUncertain significancers1452778583RCV000534398; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074582840745828ATANC_000022.10:g.40745829delClinGen:CA658658923C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.155C>A (p.Thr52Lys)158ADSLUncertain significancers1380095056RCV000692090; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074583740745837CA22:g.40745837C>A-C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp)158ADSLUncertain significancers765813625RCV001061282; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074584340745843GA22:g.40745843G>A-
NM_000026.4(ADSL):c.173C>G (p.Thr58Arg)158ADSLUncertain significance-1RCV001968996; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074585540745855CG40745855-
NM_000026.4(ADSL):c.183A>C (p.Gln61His)158ADSLUncertain significancers1601551862RCV000798632; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074586540745865AC22:g.40745865A>C-
NM_000026.4(ADSL):c.187del (p.Gln63fs)158ADSLPathogenic-1RCV001923611; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074586840745868TCT40745867-
NM_000026.4(ADSL):c.205C>G (p.Leu69Val)158ADSLUncertain significancers200169254RCV000804581; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074588740745887CG22:g.40745887C>G-
NM_000026.4(ADSL):c.216C>T (p.Ile72=)158ADSLBenignrs145786986RCV000175509|RCV000229565; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074589840745898CT22:g.40745898C>TClinGen:CA302794C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.216C>G (p.Ile72Met)158ADSLUncertain significance-1RCV001870821; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074589840745898CG40745898-
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg)158ADSLUncertain significance-1RCV001997416; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074590640745906AG40745906-
NM_000026.4(ADSL):c.226A>C (p.Met76Leu)158ADSLUncertain significancers145306334RCV001318656; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074590840745908AC40745908-
NM_000026.4(ADSL):c.244A>C (p.Lys82Gln)158ADSLUncertain significance-1RCV002003989; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074592640745926AC40745926-
NM_000026.4(ADSL):c.245A>G (p.Lys82Arg)158ADSLUncertain significance-1RCV001892871; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074592740745927AG40745927-
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)158ADSLUncertain significancers780425464RCV000527728|RCV000723817; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224074592940745929CTNC_000022.10:g.40745929C>TClinGen:CA241261
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)158ADSLPathogenic/Likely pathogenicrs1036185928RCV000434653|RCV000679862; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074593540745935CT22:g.40745935C>TClinGen:CA16608180C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.255A>G (p.Arg85=)158ADSLLikely benign-1RCV002142201; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074593740745937AG40745937-
NM_000026.4(ADSL):c.257A>G (p.His86Arg)158ADSLUncertain significancers2044280567RCV001224951; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074593940745939AG22:g.40745939A>G-
NM_000026.4(ADSL):c.258T>G (p.His86Gln)158ADSLUncertain significancers1327764464RCV001312757; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074594040745940TG40745940-
NM_000026.4(ADSL):c.262G>T (p.Val88Leu)158ADSLUncertain significance-1RCV001367571; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074594440745944GT40745944-
NM_000026.4(ADSL):c.263T>C (p.Val88Ala)158ADSLUncertain significancers149165656RCV000186702|RCV001207291; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074594540745945TCNC_000022.10:g.40745945T>CClinGen:CA313129
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr)158ADSLPathogenicrs1601552154RCV000995690; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074595040745950GA22:g.40745950G>A-
NM_000026.4(ADSL):c.270T>C (p.Ala90=)158ADSLConflicting interpretations of pathogenicityrs143275316RCV000253583|RCV000731094|RCV001088635; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074595240745952TC22:g.40745952T>CClinGen:CA10247657C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.271C>T (p.His91Tyr)158ADSLUncertain significancers755518176RCV000419456|RCV000764386; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074595340745953CTNC_000022.10:g.40745953C>TClinGen:CA10247658
NM_000026.4(ADSL):c.271C>G (p.His91Asp)158ADSLUncertain significancers755518176RCV001244507; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074595340745953CG22:g.40745953C>G-
NM_000026.4(ADSL):c.273C>T (p.His91=)158ADSLLikely benignrs148303726RCV000862323; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074595540745955CT22:g.40745955C>T-
NM_000026.4(ADSL):c.274G>T (p.Val92Leu)158ADSLUncertain significance-1RCV001976019; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074595640745956GT40745956-
NM_000026.4(ADSL):c.274G>A (p.Val92Met)158ADSLUncertain significance-1RCV001884986; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074595640745956GA40745956-
NM_000026.4(ADSL):c.298C>G (p.Pro100Ala)158ADSLPathogenicrs119450942RCV000002567; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074598040745980CG22:g.40745980C>GClinGen:CA115566,UniProtKB:P30566#VAR_017079,OMIM:608222.0003C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.319C>T (p.His107Tyr)158ADSLUncertain significance-1RCV001373726; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074600140746001CT40746001-
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)158ADSLPathogenicrs374259530RCV000186703|RCV000193076|RCV000415212; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|Human Phenotype Ontology:HP:0002344,MedGen:C1854838; Human Phenotype Ontology:HP:0002540,MedGen:C0560046; Human Phenotype Ontology:HP:0003698,MedGen:C0241237; Human Phenotype Ontol224074602240746022TCNC_000022.10:g.40746022T>CClinGen:CA206321,UniProtKB:P30566#VAR_017080
NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser)158ADSLUncertain significance-1RCV001366584; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074602340746023AC40746023-
NM_000026.4(ADSL):c.342T>C (p.Tyr114=)158ADSLLikely benign-1RCV001460125; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074602440746024TC40746024-
NM_000026.4(ADSL):c.347G>A (p.Gly116Glu)158ADSLUncertain significancers768596079RCV001058729; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074602940746029GA22:g.40746029G>A-
NM_000026.4(ADSL):c.357T>C (p.Thr119=)158ADSLUncertain significance-1RCV001871168; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074603940746039TC40746039-
NM_000026.4(ADSL):c.357+1G>A158ADSLLikely pathogenic-1RCV002017498; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074604040746040GA40746040-
NM_000026.4(ADSL):c.357+4G>A158ADSLUncertain significancers1230823834RCV001339567; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074604340746043GA40746043-
NM_000026.4(ADSL):c.357+6C>T158ADSLConflicting interpretations of pathogenicityrs181628906RCV000123547|RCV000289803|RCV000710482; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224074604540746045CT22:g.40746045C>TClinGen:CA289316C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.357+7G>A158ADSLConflicting interpretations of pathogenicityrs199993991RCV000123548|RCV000347351|RCV000726640; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224074604640746046GA22:g.40746046G>AClinGen:CA289317C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.357+7G>T158ADSLLikely benign-1RCV001730224|RCV002073416; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074604640746046GT40746046-
NM_000026.4(ADSL):c.357+10T>G158ADSLLikely benign-1RCV001922050; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074604940746049TG40746049-
NC_000022.10:g.(?_40749057)_(40750351_?)del158ADSLPathogenic-1RCV001941833; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074905740750351nana-1-
NM_000026.4(ADSL):c.358-5C>T158ADSLLikely benignrs769856337RCV000442525|RCV002062641; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074907240749072CT22:g.40749072C>TClinGen:CA10247687CN169374 not specified;
NM_000026.4(ADSL):c.358-4G>A158ADSLBenignrs113199851RCV000116238|RCV000233479|RCV000710483; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224074907340749073GA22:g.40749073G>AClinGen:CA288668C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.358-1G>C158ADSLLikely pathogenic-1RCV001785896; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074907640749076GC40749076-
NM_000026.4(ADSL):c.363G>A (p.Leu121=)158ADSLConflicting interpretations of pathogenicityrs138203195RCV000123552|RCV000864071; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074908240749082GA22:g.40749082G>AClinGen:CA289320CN169374 not specified;
NM_000026.4(ADSL):c.366T>G (p.Ile122Met)158ADSLUncertain significancers2044410316RCV001228244; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074908540749085TG22:g.40749085T>G-
NM_000026.4(ADSL):c.370C>A (p.Leu124Ile)158ADSLUncertain significancers2044410415RCV001228245; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074908940749089CA22:g.40749089C>A-
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser)158ADSLUncertain significancers771267221RCV000186707|RCV001035904; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074909640749096AGNC_000022.10:g.40749096A>GClinGen:CA313136
NM_000026.4(ADSL):c.402+1G>T158ADSLLikely pathogenicrs761551284RCV000810236; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074912240749122GT22:g.40749122G>T-
NM_000026.4(ADSL):c.402+6G>A158ADSLUncertain significance-1RCV001948178; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074912740749127GA40749127-
NM_000026.4(ADSL):c.402+18G>A158ADSLLikely benign-1RCV002202860; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224074913940749139GA40749139-
NM_000026.4(ADSL):c.403-7C>A158ADSLLikely benignrs1601565699RCV000926331|RCV001410890; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075024540750245CA22:g.40750245C>A-
NM_000026.4(ADSL):c.403-7C>T158ADSLLikely benign-1RCV002107028; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075024540750245CT40750245-
NM_000026.4(ADSL):c.403-4G>A158ADSLConflicting interpretations of pathogenicityrs373652667RCV000227251|RCV000428118|RCV000710484; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN169374|MedGen:CN517202224075024840750248GANC_000022.10:g.40750248G>AClinGen:CA10247715C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.403-3T>C158ADSLUncertain significancers766286760RCV001246622; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075024940750249TC22:g.40750249T>C-
NM_000026.4(ADSL):c.407C>T (p.Ala136Val)158ADSLUncertain significancers1569091418RCV000696779; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075025640750256CTNC_000022.10:g.40750256C>T-C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.408C>T (p.Ala136=)158ADSLConflicting interpretations of pathogenicityrs368166273RCV000596859|RCV001476772; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075025740750257CT22:g.40750257C>TClinGen:CA10247718CN169374 not specified;
NM_000026.4(ADSL):c.417C>T (p.Ile139=)158ADSLLikely benign-1RCV002071105; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075026640750266CT40750266-
NM_000026.4(ADSL):c.422G>C (p.Arg141Pro)158ADSLUncertain significancers563054392RCV001300027; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075027140750271GC40750271-
NM_000026.4(ADSL):c.429C>T (p.Ala143=)158ADSLLikely benignrs754065119RCV000931902|RCV001394484; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075027840750278CT22:g.40750278C>T-
NM_000026.4(ADSL):c.430G>A (p.Asp144Asn)158ADSLUncertain significance-1RCV001919331; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075027940750279GA40750279-
NM_000026.4(ADSL):c.435T>C (p.Phe145=)158ADSLLikely benign-1RCV001453919; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075028440750284TC40750284-
NM_000026.4(ADSL):c.438T>C (p.Ala146=)158ADSLLikely benign-1RCV001459078; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075028740750287TC40750287-
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)158ADSLConflicting interpretations of pathogenicityrs746180694RCV001330906; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075028840750288AG40750288-
NM_000026.4(ADSL):c.440A>T (p.Lys147Met)158ADSLBenignrs11089991RCV000116239|RCV000284062|RCV000441107; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224075028940750289AT22:g.40750289A>TClinGen:CA288669,UniProtKB:P30566#VAR_037884C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.446G>A (p.Arg149Gln)158ADSLUncertain significancers747546394RCV001220104; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075029540750295GA22:g.40750295G>A-
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly)158ADSLUncertain significancers147194356RCV000799764; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075030040750300AG22:g.40750300A>G-
NM_000026.4(ADSL):c.462A>G (p.Thr154=)158ADSLLikely benign-1RCV002169316; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075031140750311AG40750311-
NM_000026.4(ADSL):c.464T>C (p.Leu155Ser)158ADSLUncertain significancers2044467047RCV001323574; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075031340750313TC40750313-
NM_000026.4(ADSL):c.465A>G (p.Leu155=)158ADSLLikely benignrs139543370RCV000930436|RCV001442662; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075031440750314AG22:g.40750314A>G-
NM_000026.4(ADSL):c.475C>T (p.His159Tyr)158ADSLUncertain significancers1310213333RCV001207292; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075032440750324CT22:g.40750324C>T-
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg)158ADSLUncertain significancers8192457RCV000186708|RCV001308467; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075033140750331AGNC_000022.10:g.40750331A>GClinGen:CA313138
NM_000026.4(ADSL):c.482+8A>G158ADSLUncertain significancers886042606RCV000356986|RCV000459291; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075033940750339AG22:g.40750339A>GClinGen:CA10604469C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.482+9T>C158ADSLLikely benign-1RCV001504050; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075034040750340TC40750340-
NM_000026.4(ADSL):c.482+16A>C158ADSLLikely benign-1RCV002118702; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075034740750347AC40750347-
NC_000022.11:g.(?_40358844)_(40366542_?)del158ADSLLikely pathogenic-1RCV001031709; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075484840762546nana-1-
NM_000026.4(ADSL):c.502G>A (p.Val168Ile)158ADSLUncertain significancers1385675650RCV001330907|RCV001509099; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224075488740754887GA40754887-
NM_000026.4(ADSL):c.528T>C (p.Ile176=)158ADSLLikely benign-1RCV001463128; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075491340754913TC40754913-
NM_000026.4(ADSL):c.541A>T (p.Met181Leu)158ADSLUncertain significancers768542145RCV000634532; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075492640754926ATNC_000022.10:g.40754926A>TClinGen:CA411640767C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.541A>G (p.Met181Val)158ADSLUncertain significancers768542145RCV000700498; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075492640754926AG22:g.40754926A>G-C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter)158ADSLPathogenicrs1569096551RCV000707388; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075493540754935CT22:g.40754935C>T-C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.563G>A (p.Arg188His)158ADSLConflicting interpretations of pathogenicityrs761937276RCV000432475|RCV000473273; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075494840754948GANC_000022.10:g.40754948G>AClinGen:CA10247756
NM_000026.4(ADSL):c.567C>T (p.Val189=)158ADSLBenign/Likely benignrs765353500RCV000439679|RCV000867063; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075495240754952CT22:g.40754952C>TClinGen:CA10247757CN169374 not specified;
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)158ADSLPathogenicrs750614500RCV000186710|RCV000763484; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075495340754953CT22:g.40754953C>TClinGen:CA313142CN517202 not provided;
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)158ADSLConflicting interpretations of pathogenicityrs28941471RCV000002569|RCV000186674; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224075495440754954GANC_000022.10:g.40754954G>AOMIM:608222.0005,ClinGen:CA115568,UniProtKB:P30566#VAR_007974
NM_000026.4(ADSL):c.578T>C (p.Leu193Pro)158ADSLUncertain significancers2044667301RCV001150920; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075496340754963TC22:g.40754963T>C-
NM_000026.4(ADSL):c.579G>C (p.Leu193=)158ADSLConflicting interpretations of pathogenicityrs751928831RCV000349838|RCV001150921; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075496440754964GC22:g.40754964G>CClinGen:CA10247759CN169374 not specified;
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys)158ADSLLikely pathogenic-1RCV002010959; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075496540754965CT40754965-
NM_000026.4(ADSL):c.581G>A (p.Arg194His)158ADSLConflicting interpretations of pathogenicityrs755359802RCV000634539|RCV001269550; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224075496640754966GA22:g.40754966G>AClinGen:CA10247760C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp)158ADSLUncertain significancers376533106RCV000704389; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075497140754971CT22:g.40754971C>T-C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln)158ADSLUncertain significancers753245184RCV000442215|RCV001330908; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075497240754972GANC_000022.10:g.40754972G>AClinGen:CA10247762
NM_000026.4(ADSL):c.590G>A (p.Gly197Glu)158ADSLUncertain significance-1RCV001888192; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075497540754975GA40754975-
NM_000026.4(ADSL):c.608G>A (p.Gly203Asp)158ADSLUncertain significancers2044668344RCV001055322; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075499340754993GA22:g.40754993G>A-
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser)158ADSLUncertain significancers745524617RCV000804178; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075499640754996CG22:g.40754996C>G-
NM_000026.4(ADSL):c.611C>T (p.Thr204Ile)158ADSLUncertain significance-1RCV001986185; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075499640754996CT40754996-
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)158ADSLConflicting interpretations of pathogenicityrs148411623RCV000186675|RCV000766357|RCV001082607; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075500140755001GTNC_000022.10:g.40755001G>TClinGen:CA313090
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly)158ADSLUncertain significancers746848060RCV001336062; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075500240755002CG40755002-
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr)158ADSLUncertain significancers776615568RCV000824613; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075500840755008TA22:g.40755008T>A-
NM_000026.4(ADSL):c.628C>T (p.Gln210Ter)158ADSLPathogenic-1RCV002037760; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075501340755013CT40755013-
NM_000026.4(ADSL):c.632T>A (p.Leu211His)158ADSLUncertain significancers2044669605RCV001237538; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075501740755017TA22:g.40755017T>A-
NM_000026.4(ADSL):c.644A>G (p.Asp215Gly)158ADSLUncertain significance-1RCV001368288; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075502940755029AG40755029-
NM_000026.4(ADSL):c.649C>G (p.His217Asp)158ADSLBenign/Likely benignrs199761158RCV000186672|RCV000230022|RCV001080646; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075503440755034CG22:g.40755034C>GClinGen:CA245884C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.649C>T (p.His217Tyr)158ADSLUncertain significancers199761158RCV000797767; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075503440755034CT22:g.40755034C>T-
NM_000026.4(ADSL):c.655-42_655-8del158ADSLUncertain significance-1RCV002041321; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075522040755254ACTGGACACATGGATTATTATAAGGATGTGTCTTTTA40755219-
NM_000026.4(ADSL):c.655-11T>G158ADSLLikely benign-1RCV002185599; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075525340755253TG40755253-
NM_000026.4(ADSL):c.655-9C>G158ADSLLikely benign-1RCV002203411; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075525540755255CG40755255-
NM_000026.4(ADSL):c.655G>A (p.Val219Ile)158ADSLUncertain significancers1555907605RCV000552936; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075526440755264GA22:g.40755264G>AClinGen:CA411641687C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.655G>T (p.Val219Leu)158ADSLUncertain significancers1555907605RCV001303310; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075526440755264GT40755264-
NM_000026.4(ADSL):c.666del (p.Asp223fs)158ADSLPathogenic-1RCV001383241; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075527440755274CTC40755273-
NM_000026.4(ADSL):c.674T>C (p.Met225Thr)158ADSLPathogenicrs119450945RCV000002572; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075528340755283TC22:g.40755283T>CClinGen:CA115570,OMIM:608222.0008C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.684A>G (p.Glu228=)158ADSLLikely benign-1RCV001480293; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075529340755293AG40755293-
NM_000026.4(ADSL):c.701+1G>A158ADSLLikely pathogenicrs546878201RCV001202658; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075531140755311GA22:g.40755311G>A-
NM_000026.4(ADSL):c.702-19C>G158ADSLLikely benign-1RCV002169732; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075638740756387CG40756387-
NM_000026.4(ADSL):c.702-15T>C158ADSLLikely benign-1RCV002166841; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075639140756391TC40756391-
NM_000026.4(ADSL):c.702-7T>C158ADSLConflicting interpretations of pathogenicityrs201509960RCV000186673|RCV000723924|RCV001081511; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075639940756399TC22:g.40756399T>CClinGen:CA233448C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.702-7T>A158ADSLLikely benign-1RCV002141471; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075639940756399TA40756399-
NM_000026.4(ADSL):c.702-3T>A158ADSLUncertain significancers1229114572RCV001150922; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075640340756403TA22:g.40756403T>A-
NM_000026.4(ADSL):c.702-2A>G158ADSLLikely pathogenic-1RCV002030152; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075640440756404AG40756404-
NM_000026.4(ADSL):c.708C>T (p.Phe236=)158ADSLLikely benign-1RCV002190158; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075641240756412CT40756412-
NM_000026.4(ADSL):c.712A>G (p.Ile238Val)158ADSLUncertain significance-1RCV001971176; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075641640756416AG40756416-
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)158ADSLPathogenicrs1601586359RCV000990446; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075642940756429CT22:g.40756429C>T-
NM_000026.4(ADSL):c.733C>T (p.Arg245Ter)158ADSLPathogenic-1RCV001942110; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075643740756437CT40756437-
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln)158ADSLUncertain significancers374047157RCV000767889; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075643840756438GANC_000022.10:g.40756438G>A-
NM_000026.4(ADSL):c.735A>T (p.Arg245=)158ADSLConflicting interpretations of pathogenicityrs143977255RCV000186609|RCV000723714|RCV001079876; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075643940756439AT22:g.40756439A>TClinGen:CA220244C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)158ADSLLikely pathogenicrs119450944RCV000002570; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075644040756440AG22:g.40756440A>GClinGen:CA115569,UniProtKB:P30566#VAR_007975,OMIM:608222.0006C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del)158ADSLUncertain significance-1RCV002009819; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075645540756463AGTACTGTCTA40756454-
NM_000026.4(ADSL):c.754C>T (p.Leu252=)158ADSLLikely benign-1RCV002081361; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075645840756458CT40756458-
NM_000026.4(ADSL):c.763C>T (p.Leu255=)158ADSLConflicting interpretations of pathogenicityrs771049726RCV000341448; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075646740756467CTNC_000022.10:g.40756467C>TClinGen:CA10247805C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.769A>G (p.Ser257Gly)158ADSLUncertain significancers775115015RCV000552133; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075647340756473AG22:g.40756473A>GClinGen:CA10247806C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.779C>T (p.Ala260Val)158ADSLUncertain significancers1601586537RCV000797966; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075648340756483CT22:g.40756483C>T-
NM_000026.4(ADSL):c.785T>C (p.Val262Ala)158ADSLUncertain significancers2044740915RCV001206286; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075648940756489TC22:g.40756489T>C-
NM_000026.4(ADSL):c.789C>T (p.His263=)158ADSLLikely benign-1RCV002163229; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075649340756493CT40756493-
NM_000026.4(ADSL):c.792+5G>C158ADSLUncertain significance-1RCV001916584; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075650140756501GC40756501-
NM_000026.4(ADSL):c.792+6T>C158ADSLUncertain significancers768892416RCV001305891; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075650240756502TC40756502-
NM_000026.4(ADSL):c.793-4C>T158ADSLLikely benign-1RCV002093682; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075727340757273CT40757273-
NM_000026.4(ADSL):c.793-3C>T158ADSLUncertain significancers2044774129RCV001046900; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075727440757274CT22:g.40757274C>T-
NM_000026.4(ADSL):c.801C>T (p.Thr267=)158ADSLLikely benignrs369069575RCV000634541; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075728540757285CTNC_000022.10:g.40757285C>TClinGen:CA10247834C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)158ADSLPathogenic-1RCV001382689; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075728640757286GA40757286-
NM_000026.4(ADSL):c.805A>G (p.Ile269Val)158ADSLUncertain significancers759104126RCV000498307|RCV000706115; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075728940757289AGNC_000022.10:g.40757289A>GClinGen:CA10247836
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys)158ADSLUncertain significancers181252862RCV000402231; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075729240757292CTNC_000022.10:g.40757292C>TClinGen:CA10247839C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.809G>A (p.Arg270His)158ADSLUncertain significancers760189192RCV001225335; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075729340757293GA22:g.40757293G>A-
NM_000026.4(ADSL):c.818C>T (p.Ala273Val)158ADSLUncertain significancers962521087RCV001338123; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075730240757302CT40757302-
NM_000026.4(ADSL):c.820A>G (p.Asn274Asp)158ADSLUncertain significance-1RCV001941136; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075730440757304AG40757304-
NM_000026.4(ADSL):c.829G>T (p.Glu277Ter)158ADSLPathogenic-1RCV001384334; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075731340757313GT40757313-
NM_000026.4(ADSL):c.832A>G (p.Met278Val)158ADSLUncertain significancers2044778052RCV001219514; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075731640757316AG22:g.40757316A>G-
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg)158ADSLUncertain significancers371529148RCV000818257; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075732640757326CG22:g.40757326C>G-
NM_000026.4(ADSL):c.842C>T (p.Pro281Leu)158ADSLUncertain significancers371529148RCV001062284; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075732640757326CT22:g.40757326C>T-
NM_000026.4(ADSL):c.843C>T (p.Pro281=)158ADSLLikely benignrs1555908183RCV000532703; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075732740757327CTNC_000022.10:g.40757327C>TClinGen:CA514615261C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.845T>C (p.Phe282Ser)158ADSLUncertain significance-1RCV001891766; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075732940757329TC40757329-
NM_000026.4(ADSL):c.853C>G (p.Gln285Glu)158ADSLUncertain significancers796052246RCV001062077; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075733740757337CG22:g.40757337C>G-
NM_000026.4(ADSL):c.854A>G (p.Gln285Arg)158ADSLUncertain significancers2044779637RCV001340795; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075733840757338AG40757338-
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu)158ADSLUncertain significancers376912453RCV000521719|RCV001853643; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075734040757340CGNC_000022.10:g.40757340C>GClinGen:CA10247845
NM_000026.4(ADSL):c.859A>G (p.Ile287Val)158ADSLUncertain significance-1RCV001934126; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075734340757343AG40757343-
NM_000026.4(ADSL):c.862+10G>A158ADSLLikely benignrs747275092RCV000981625; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075735640757356GA22:g.40757356G>A-
NM_000026.4(ADSL):c.862+13T>C158ADSLLikely benign-1RCV002118959; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075735940757359TC40757359-
NM_000026.4(ADSL):c.863-20T>G158ADSLLikely benignrs760407114RCV000607072|RCV002066609; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075747240757472TG22:g.40757472T>GClinGen:CA10247857CN169374 not specified;
NM_000026.4(ADSL):c.863-18C>T158ADSLLikely benign-1RCV002214981; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075747440757474CT40757474-
NM_000026.4(ADSL):c.863-11T>C158ADSLLikely benignrs375532126RCV000828825|RCV002062226; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075748140757481TC22:g.40757481T>C-
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala)158ADSLUncertain significance-1RCV001918127; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075749240757492GC40757492-
NM_000026.4(ADSL):c.869G>A (p.Ser290Asn)158ADSLUncertain significancers2044788172RCV001220741; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075749840757498GA22:g.40757498G>A-
NM_000026.4(ADSL):c.870T>C (p.Ser290=)158ADSLLikely benignrs146890981RCV000634542; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075749940757499TC22:g.40757499T>CClinGen:CA10247861C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.872C>T (p.Ala291Val)158ADSLUncertain significancers2044788378RCV001150923; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075750140757501CT22:g.40757501C>T-
NM_000026.4(ADSL):c.873G>A (p.Ala291=)158ADSLLikely benignrs765122847RCV000928991|RCV001422082; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075750240757502GA22:g.40757502G>A-
NM_000026.4(ADSL):c.879A>G (p.Pro293=)158ADSLLikely benign-1RCV001394381; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075750840757508AG40757508-
NM_000026.4(ADSL):c.880T>C (p.Tyr294His)158ADSLBenignrs8192461RCV000540883|RCV001721189; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224075750940757509TCNC_000022.10:g.40757509T>CClinGen:CA313101C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)158ADSLUncertain significancers536254357RCV000521643|RCV001350739|RCV001814999; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN169374224075751540757515CTNC_000022.10:g.40757515C>TClinGen:CA10247865
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln)158ADSLUncertain significancers755059672RCV000553354|RCV000728589; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224075751640757516GANC_000022.10:g.40757516G>AClinGen:CA10247866C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.891T>A (p.Asn297Lys)158ADSLUncertain significance-1RCV001914563; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075752040757520TA40757520-
NM_000026.4(ADSL):c.894C>T (p.Pro298=)158ADSLLikely benign-1RCV001493234; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075752340757523CT40757523-
NM_000026.4(ADSL):c.895A>G (p.Met299Val)158ADSLConflicting interpretations of pathogenicityrs34396910RCV000710485|RCV001087090; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075752440757524AGNC_000022.10:g.40757524A>GClinGen:CA247928C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.896T>C (p.Met299Thr)158ADSLUncertain significancers1364564756RCV000808407; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075752540757525TC22:g.40757525T>C-
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser)158ADSLUncertain significancers369617680RCV000498255|RCV001857014; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075752740757527CANC_000022.10:g.40757527C>AClinGen:CA324458491
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys)158ADSLUncertain significancers369617680RCV000634537; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075752740757527CT22:g.40757527C>TClinGen:CA411643943C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.899G>A (p.Arg300His)158ADSLUncertain significancers864309550RCV000202823|RCV001220450; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075752840757528GA22:g.40757528G>AClinGen:CA249024CN169374 not specified;
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)158ADSLPathogenicrs373458753RCV000293106|RCV000727198; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224075753640757536CT22:g.40757536C>TClinGen:CA10247868,UniProtKB:P30566#VAR_007976C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.913T>G (p.Cys305Gly)158ADSLUncertain significance-1RCV001910276; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075754240757542TG40757542-
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly)158ADSLUncertain significancers1006262492RCV000473217; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075754540757545AGNC_000022.10:g.40757545A>GClinGen:CA16616389C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.919C>T (p.Leu307Phe)158ADSLUncertain significancers2044790556RCV001208135; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075754840757548CT22:g.40757548C>T-
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys)158ADSLUncertain significancers376357524RCV000186683|RCV000764387; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075755440757554CTNC_000022.10:g.40757554C>TClinGen:CA313103
NM_000026.4(ADSL):c.926G>A (p.Arg309His)158ADSLUncertain significancers749817666RCV000465601|RCV000443295; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224075755540757555GANC_000022.10:g.40757555G>AClinGen:CA10247869
NM_000026.4(ADSL):c.946A>G (p.Met316Val)158ADSLUncertain significancers2044791557RCV001262431; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075757540757575AG22:g.40757575A>G-
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)158ADSLConflicting interpretations of pathogenicityrs202064195RCV000278336|RCV000186684; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224075758240757582CTNC_000022.10:g.40757582C>TClinGen:CA313105,UniProtKB:P30566#VAR_017084
NM_000026.4(ADSL):c.955del (p.Leu319fs)158ADSLPathogenic-1RCV001387368; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075758440757584GCG40757583-
NM_000026.4(ADSL):c.962C>T (p.Thr321Ile)158ADSLUncertain significancers1243449413RCV001043302; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075759140757591CT22:g.40757591C>T-
NM_000026.4(ADSL):c.974A>G (p.Gln325Arg)158ADSLUncertain significance-1RCV001911829; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075760340757603AG40757603-
NM_000026.4(ADSL):c.977G>A (p.Trp326Ter)158ADSLPathogenicrs2044792794RCV001050339; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075760640757606GA22:g.40757606G>A-
NM_000026.4(ADSL):c.978G>T (p.Trp326Cys)158ADSLUncertain significancers1224557562RCV001304564; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075760740757607GT40757607-
NM_000026.4(ADSL):c.985C>T (p.Arg329Cys)158ADSLUncertain significancers370221257RCV001312484; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075761440757614CT40757614-
NM_000026.4(ADSL):c.986G>A (p.Arg329His)158ADSLUncertain significancers768203123RCV000726396|RCV001042231; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075761540757615GANC_000022.10:g.40757615G>AClinGen:CA10247872
NM_000026.4(ADSL):c.994G>C (p.Asp332His)158ADSLLikely pathogenicrs776496275RCV000990447; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075762340757623GC22:g.40757623G>CClinVar:208488C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.999T>C (p.Asp333=)158ADSLLikely benign-1RCV001496871; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075762840757628TC40757628-
NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys)158ADSLUncertain significance-1RCV001941106; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075763740757637CG40757637-
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)158ADSLPathogenicrs761493155RCV000186680|RCV001209833; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075763840757638CTNC_000022.10:g.40757638C>TClinGen:CA313099
NM_000026.4(ADSL):c.1010+18A>G158ADSLBenignrs201019280RCV000123545|RCV001699040|RCV002055395; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075765740757657AG22:g.40757657A>GClinGen:CA289315CN169374 not specified;
NM_000026.4(ADSL):c.1011-18T>C158ADSLLikely benign-1RCV002207835; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075896740758967TC40758967-
NM_000026.4(ADSL):c.1011-13A>G158ADSLLikely benign-1RCV002106145; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075897240758972AG40758972-
NM_000026.4(ADSL):c.1011-9G>C158ADSLConflicting interpretations of pathogenicityrs780794164RCV001150924; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075897640758976GC22:g.40758976G>C-
NM_000026.4(ADSL):c.1011-5del158ADSLBenign-1RCV001511240; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075897740758977GTG40758976-
NM_000026.4(ADSL):c.1011-3T>C158ADSLUncertain significancers1376448837RCV000822000; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075898240758982TC22:g.40758982T>C-
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn)158ADSLUncertain significancers772974251RCV000484518|RCV001302302; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075899040758990TANC_000022.10:g.40758990T>AClinGen:CA10247891
NM_000026.4(ADSL):c.1026del (p.Glu343fs)158ADSLPathogenic-1RCV001382329; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075899940758999GCG40758998-
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)158ADSLUncertain significancers774159147RCV000810822; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075900140759001GA22:g.40759001G>A-
NM_000026.4(ADSL):c.1041C>T (p.Thr347=)158ADSLLikely benign-1RCV002095878; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075901540759015CT40759015-
NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr)158ADSLUncertain significancers752735865RCV001201984; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075901640759016GA22:g.40759016G>A-
NM_000026.4(ADSL):c.1051A>G (p.Ile351Val)158ADSLUncertain significance-1RCV001362139; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075902540759025AG40759025-
NM_000026.4(ADSL):c.1053A>G (p.Ile351Met)158ADSLUncertain significancers151095874RCV001294247; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075902740759027AG40759027-
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala)158ADSLUncertain significancers75953451RCV000432959|RCV000634536; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075903440759034AGNC_000022.10:g.40759034A>GClinGen:CA239081
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met)158ADSLUncertain significancers752238667RCV000186686|RCV001857600; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075903540759035CTNC_000022.10:g.40759035C>TClinGen:CA313106
NM_000026.4(ADSL):c.1071C>T (p.Asn357=)158ADSLLikely benign-1RCV002218541; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075904540759045CT40759045-
NM_000026.4(ADSL):c.1089C>T (p.Val363=)158ADSLLikely benignrs368373129RCV001427748|RCV001703619; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224075906340759063CT22:g.40759063C>TClinGen:CA10247904CN169374 not specified;
NM_000026.4(ADSL):c.1090G>A (p.Val364Met)158ADSLLikely pathogenic-1RCV001971171; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075906440759064GA40759064-
NM_000026.4(ADSL):c.1092G>A (p.Val364=)158ADSLLikely benign-1RCV002133705; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075906640759066GA40759066-
NM_000026.4(ADSL):c.1093T>C (p.Tyr365His)158ADSLUncertain significance-1RCV001979832; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075906740759067TC40759067-
NM_000026.4(ADSL):c.1101+6_1101+8del158ADSLUncertain significance-1RCV001365221; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075907840759080TAAGT40759077-
NM_000026.4(ADSL):c.1101+10C>T158ADSLLikely benign-1RCV002196366; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224075908540759085CT40759085-
NC_000022.11:g.(?_40364256)_(40366542_?)dup158ADSLUncertain significance-1RCV001032082; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076026040762546nana-1-
NC_000022.10:g.(?_40760260)_(40762546_?)del158ADSLLikely pathogenic-1RCV001377197; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076026040762546nana-1-
NM_000026.4(ADSL):c.1102-18C>G158ADSLConflicting interpretations of pathogenicity-1RCV001613498|RCV001866258; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076026240760262CG40760262-
NM_000026.4(ADSL):c.1102-17C>T158ADSLLikely benign-1RCV002178925; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076026340760263CT40760263-
NM_000026.4(ADSL):c.1102-16G>A158ADSLLikely benignrs200428249RCV000614052|RCV002063132; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076026440760264GA22:g.40760264G>AClinGen:CA10247918CN169374 not specified;
NM_000026.4(ADSL):c.1102-15dup158ADSLLikely benign-1RCV002134102; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076026440760265GGT40760264-
NM_000026.4(ADSL):c.1102-16G>T158ADSLLikely benign-1RCV002094972; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076026440760264GT40760264-
NM_000026.4(ADSL):c.1102-7C>T158ADSLLikely benign-1RCV001396334; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076027340760273CT40760273-
NM_000026.4(ADSL):c.1102-6C>G158ADSLUncertain significancers758666194RCV001064875; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076027440760274CG22:g.40760274C>G-
NM_000026.4(ADSL):c.1102-4A>G158ADSLUncertain significancers371780382RCV001326174; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076027640760276AG40760276-
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu)158ADSLConflicting interpretations of pathogenicity-1RCV001786850|RCV002034624; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076028340760283AC40760283-
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr)158ADSLUncertain significancers755688868RCV000335846; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076028440760284TCNC_000022.10:g.40760284T>CClinGen:CA10247923C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp)158ADSLUncertain significancers777359946RCV000544204; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076028940760289CTNC_000022.10:g.40760289C>TClinGen:CA324460176C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln)158ADSLUncertain significancers192303222RCV000697137|RCV000723724; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224076029040760290GANC_000022.10:g.40760290G>AClinGen:CA220242
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser)158ADSLUncertain significancers778401578RCV000696185; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076029240760292CA22:g.40760292C>A-C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1115G>A (p.Arg372His)158ADSLUncertain significancers150228971RCV000186688|RCV000467182; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076029340760293GANC_000022.10:g.40760293G>AClinGen:CA313108
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp)158ADSLUncertain significancers376533026RCV000427780|RCV000821230; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076029840760298CTNC_000022.10:g.40760298C>TClinGen:CA10247929
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln)158ADSLUncertain significancers568567422RCV000483104|RCV000634533; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076029940760299GANC_000022.10:g.40760299G>AClinGen:CA10247930
NM_000026.4(ADSL):c.1122G>T (p.Arg374=)158ADSLLikely benign-1RCV001436627; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076030040760300GT40760300-
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp)158ADSLConflicting interpretations of pathogenicityrs796052247RCV000186689|RCV001852436; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076030640760306GCNC_000022.10:g.40760306G>CClinGen:CA313110
NM_000026.4(ADSL):c.1128G>A (p.Glu376=)158ADSLLikely benign-1RCV002181391; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076030640760306GA40760306-
NM_000026.4(ADSL):c.1138A>G (p.Met380Val)158ADSLUncertain significance-1RCV002005733; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076031640760316AG40760316-
NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile)158ADSLUncertain significance-1RCV001990163; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076032340760323CT40760323-
NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del)158ADSLLikely pathogenicrs1601596522RCV000990448; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076033040760332ACATA22:g.40760330_40760332del-
NM_000026.4(ADSL):c.1159A>G (p.Met387Val)158ADSLUncertain significance-1RCV001988172; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076033740760337AG40760337-
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile)158ADSLUncertain significancers766782678RCV000412930|RCV001351733; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076034540760345GA22:g.40760345G>AClinGen:CA10247936CN169374 not specified;
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)158ADSLConflicting interpretations of pathogenicityrs755492501RCV001039703|RCV001268745; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224076036440760364CT22:g.40760364C>T-
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)158ADSLPathogenic/Likely pathogenicrs763542069RCV000186690|RCV000779373; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076036540760365GANC_000022.10:g.40760365G>AClinGen:CA313112,UniProtKB:P30566#VAR_017088
NM_000026.4(ADSL):c.1187del (p.Arg396fs)158ADSLPathogenicrs2044916556RCV001203918; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076036540760365CGC22:g.40760365_40760365del-
NM_000026.4(ADSL):c.1191+12dup158ADSLLikely benign-1RCV001451543; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076037740760378AAC40760377-
NM_000026.4(ADSL):c.1191+8A>T158ADSLLikely benign-1RCV002166393; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076037740760377AT40760377-
NM_000026.4(ADSL):c.1191+9C>T158ADSLLikely benignrs371706528RCV000865875|RCV001704325; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224076037840760378CT22:g.40760378C>TClinGen:CA10247942CN169374 not specified;
NM_000026.4(ADSL):c.1191+10C>G158ADSLLikely benign-1RCV002192206; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076037940760379CG40760379-
NM_000026.4(ADSL):c.1191+11C>A158ADSLLikely benignrs1057523739RCV000440784|RCV002063532; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076038040760380CA22:g.40760380C>AClinGen:CA16608673CN169374 not specified;
NM_000026.4(ADSL):c.1191+17G>A158ADSLLikely benign-1RCV002207690; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076038640760386GA40760386-
NM_000026.4(ADSL):c.1192-5C>T158ADSLLikely benign-1RCV001610053|RCV002072914; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076087940760879CT40760879-
NM_000026.4(ADSL):c.1200T>C (p.His400=)158ADSLConflicting interpretations of pathogenicityrs751401941RCV000407816; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076089240760892TCNC_000022.10:g.40760892T>CClinGen:CA10247962C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu)158ADSLUncertain significancers754714101RCV000174209|RCV001363767; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076089940760899AC22:g.40760899A>CClinGen:CA239717CN169374 not specified;
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser)158ADSLUncertain significancers781253590RCV000556894; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076090440760904AC22:g.40760904A>CClinGen:CA10247964C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)158ADSLPathogenic-1RCV001950883; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076091440760914CT40760914-
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr)158ADSLUncertain significancers1196254689RCV000795626; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076092340760923GA22:g.40760923G>A-
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe)158ADSLUncertain significancers571597579RCV001039736; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076092740760927CT22:g.40760927C>T-
NM_000026.4(ADSL):c.1240G>T (p.Val414Phe)158ADSLUncertain significance-1RCV001952002; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076093240760932GT40760932-
NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg)158ADSLUncertain significancers372650859RCV001338975; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076094440760944GC40760944-
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu)158ADSLUncertain significancers774693972RCV001144829; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076094540760945GA22:g.40760945G>A-
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val)158ADSLUncertain significancers886057505RCV000300825; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076094840760948GTNC_000022.10:g.40760948G>TClinGen:CA10651311C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1258G>A (p.Asp420Asn)158ADSLUncertain significancers2044942817RCV001309060; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076095040760950GA40760950-
NM_000026.4(ADSL):c.1261_1263del (p.Asn421del)158ADSLUncertain significance-1RCV001928209; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076095340760955CAATC40760952-
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser)158ADSLUncertain significancers145750778RCV000186691|RCV000537481; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076095440760954AGNC_000022.10:g.40760954A>GClinGen:CA313113
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)158ADSLUncertain significancers119450943RCV000002568; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076095640760956GT22:g.40760956G>TClinGen:CA115567,UniProtKB:P30566#VAR_017089,OMIM:608222.0004C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1269C>A (p.Leu423=)158ADSLLikely benign-1RCV002188373; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076096140760961CA40760961-
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys)158ADSLPathogenicrs796052248RCV000186692|RCV001253786; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076096840760968CTNC_000022.10:g.40760968C>TClinGen:CA313115
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)158ADSLPathogenicrs119450941RCV000002566|RCV000186693; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224076096940760969GA22:g.40760969G>AClinGen:CA115565,UniProtKB:P30566#VAR_007978,OMIM:608222.0002,ClinVar:208488C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)158ADSLUncertain significancers758241731RCV000435716|RCV000696181; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076097140760971AGNC_000022.10:g.40760971A>GClinGen:CA10247974
NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn)158ADSLUncertain significancers554254383RCV001971049; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076098040760980GA40760980UniProtKB:P30566#VAR_017091
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)158ADSLConflicting interpretations of pathogenicityrs200814886RCV000186695|RCV000725224|RCV001489163; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076098340760983GANC_000022.10:g.40760983G>AClinGen:CA313118
NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)158ADSLPathogenicrs119450940RCV000002565; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076100440761004TC22:g.40761004T>CClinGen:CA115564,UniProtKB:P30566#VAR_000680,OMIM:608222.0001C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1314C>G (p.Ser438=)158ADSLLikely benign-1RCV001451269; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076100640761006CG40761006-
NM_000026.4(ADSL):c.1318T>C (p.Leu440=)158ADSLLikely benign-1RCV002146302; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076101040761010TC40761010-
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del)158ADSLUncertain significancers796052252RCV000186709|RCV001036968; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076102940761031CCTTCNC_000022.10:g.40761029CTT[2]ClinGen:CA313140
NM_000026.4(ADSL):c.1337C>A (p.Pro446His)158ADSLUncertain significancers755964863RCV000785042|RCV000726681; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202224076102940761029CANC_000022.10:g.40761029C>AClinGen:CA10247979
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)158ADSLConflicting interpretations of pathogenicityrs777821034RCV000186696|RCV000763485; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076103140761031TCNC_000022.10:g.40761031T>CClinGen:CA313120,UniProtKB:P30566#VAR_017092
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)158ADSLConflicting interpretations of pathogenicityrs771121666RCV000224729|RCV000526230; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076103440761034TCNC_000022.10:g.40761034T>CClinGen:CA10247981
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys)158ADSLUncertain significancers1265053994RCV000822391; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076103540761035CG22:g.40761035C>G-
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)158ADSLLikely pathogenicrs372895468RCV000186712|RCV001781543; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076104140761041CGNC_000022.10:g.40761041C>GClinGen:CA313145,UniProtKB:P30566#VAR_016932
NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile)158ADSLUncertain significance-1RCV001369328; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076104140761041CT40761041-
NM_000026.4(ADSL):c.1350T>C (p.Thr450=)158ADSLLikely benignrs200300396RCV000634545; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076104240761042TCNC_000022.10:g.40761042T>CClinGen:CA10247982C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys)158ADSLUncertain significancers572438339RCV001144830; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076104640761046CT22:g.40761046C>T-
NM_000026.4(ADSL):c.1355G>A (p.Arg452His)158ADSLUncertain significancers775671027RCV000634538; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076104740761047GANC_000022.10:g.40761047G>AClinGen:CA10247984C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro)158ADSLLikely pathogenic-1RCV002010963; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076104740761047GC40761047-
NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp)158ADSLUncertain significancers2044948939RCV001313022; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076105040761050CA40761050-
NM_000026.4(ADSL):c.1359C>T (p.Ala453=)158ADSLLikely benignrs1601598300RCV000938289|RCV001414468; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076105140761051CT22:g.40761051C>T-
NM_000026.4(ADSL):c.1365G>T (p.Gln455His)158ADSLUncertain significancers1011687452RCV001048058; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076105740761057GT22:g.40761057G>T-
NM_000026.4(ADSL):c.1368+4A>C158ADSLUncertain significance-1RCV002002918; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076106440761064AC40761064-
NM_000026.4(ADSL):c.1368+8del158ADSLLikely benignrs758319423RCV000478334|RCV000873236; NMedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076106740761067CTC22:g.40761067_40761067delClinGen:CA10247986CN169374 not specified;
NM_000026.4(ADSL):c.1368+10C>T158ADSLLikely benignrs1330219053RCV000869657|RCV001479043; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076107040761070CT22:g.40761070C>T-
NM_000026.4(ADSL):c.1369G>T (p.Val457Leu)158ADSLUncertain significance-1RCV002010606; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076244040762440GT40762440-
NM_000026.4(ADSL):c.1380C>T (p.Phe460=)158ADSLLikely benign-1RCV002182218; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076245140762451CT40762451-
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu)158ADSLUncertain significancers1569104977RCV000767890; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076246440762464GCNC_000022.10:g.40762464G>C-
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)158ADSLConflicting interpretations of pathogenicityrs1057521071RCV000438014|RCV000688125; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076247140762471CGNC_000022.10:g.40762471C>GClinGen:CA16609100
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile)158ADSLUncertain significancers768999974RCV000634535; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076247640762476TANC_000022.10:g.40762476T>AClinGen:CA411649238C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1413A>G (p.Pro471=)158ADSLUncertain significancers796674225RCV000796829; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076248440762484AG22:g.40762484A>G-
NM_000026.4(ADSL):c.1416T>C (p.Tyr472=)158ADSLLikely benign-1RCV001451067; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076248740762487TC40762487-
NM_000026.4(ADSL):c.1422C>T (p.Ser474=)158ADSLLikely benignrs748593655RCV000924781|RCV001430088; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076249340762493CT22:g.40762493C>T-
NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg)158ADSLUncertain significance-1RCV001973296; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076249340762493CG40762493-
NM_000026.4(ADSL):c.1423G>A (p.Val475Met)158ADSLUncertain significance-1RCV001927594; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076249440762494GA40762494-
NM_000026.4(ADSL):c.1428G>A (p.Met476Ile)158ADSLUncertain significance-1RCV001878718; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076249940762499GA40762499-
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly)158ADSLUncertain significancers796052250RCV000727388|RCV001313688; NMedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076251040762510CGNC_000022.10:g.40762510C>GClinGen:CA313123
NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp)158ADSLUncertain significance-1RCV001365973; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076251440762514AC40762514-
NM_000026.4(ADSL):c.1444T>C (p.Leu482=)158ADSLLikely benign-1RCV001942040; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076251540762515TC40762515-
NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr)158ADSLUncertain significance-1RCV001898164; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076251940762519GA40762519-
NM_000026.4(ADSL):c.*45A>T158ADSLUncertain significancers180726920RCV000362664; NMONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46224076257140762571ATNC_000022.10:g.40762571A>TClinGen:CA10248020C0268126 103050 Adenylosuccinate lyase deficiency;
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