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Metabolism, Inborn Errors (D008661)
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Urolithiasis (D052878)
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Adenine phosphoribosyltransferase deficiency (C538228)

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 Sister Nodes: 
..expandAdenine phosphoribosyltransferase deficiency (C538228)
..expandGlycinuria with or without Oxalate Urolithiasis (C563009)
..expandNephrolithiasis (D053040) Child11
..expandUreterolithiasis (D053039) Child1
..expandUrinary Calculi (D014545) Child6
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:272
Name:Adenine phosphoribosyltransferase deficiency
Definition:
Alternative IDs:DO:DOID:0060350|OMIM:614723
ParentIDs:MESH:D008661|MESH:D052878
TreeNumbers:C12.777.967/C538228 |C13.351.968.967/C538228 |C16.320.565/C538228 |C18.452.648/C538228
Synonyms:2,8-Dihydroxyadenine Urolithiasis |2,8-Dihydroxyadeninuria |APRTD |APRT Deficiency |DHA Crystalline Nephropathy |NEPHROLITHIASIS, DHA |Urolithiasis, 2,8-Dihydroxyadenine |UROLITHIASIS, DHA
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C538228
MeSH: C538228
OMIM: 614723;
MSeqDR LSDB:  
Genes: APRT;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000787Nephrolithiasis
3 HP:0000083Renal insufficiency
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000485.3(APRT):c.*210A>G353APRTUncertain significance1184700495RCV001118891; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888758968887589616:g.88875896T>C-
NM_000485.3(APRT):c.*178A>C353APRTLikely benign4695RCV000262095; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888759288887592816:g.88875928T>GClinGen:CA8234308C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.*152C>T353APRTUncertain significance137965502RCV000319131; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888759548887595416:g.88875954G>AClinGen:CA8234313C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.*122C>T353APRTUncertain significance769271336RCV000371435; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976168887598488875984NC_000016.9:g.88875984G>AClinGen:CA8234319C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.*83G>A353APRTUncertain significance748634790RCV000279323; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976168887602388876023NC_000016.9:g.88876023C>TClinGen:CA10644556C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.543A>T (p.Ter181Cys)353APRTPathogenic1909032484RCV001269418; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761068887610616:g.88876106T>A-
NM_000485.3(APRT):c.542G>C (p.Ter181Ser)353APRTPathogenic387906584RCV000019964; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761078887610716:g.88876107C>GClinGen:CA258149,OMIM:102600.0009C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.541T>C (p.Ter181Arg)353APRTPathogenic758634272RCV001269417; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761088887610816:g.88876108A>G-
NM_000485.3(APRT):c.532C>T (p.Gln178Ter)353APRTPathogenic1165408563RCV001269416; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761178887611716:g.88876117G>A-
NM_000485.3(APRT):c.526_530del (p.Leu176fs)353APRTPathogenic755380873RCV001269415; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761198887612316:g.88876119_88876123del-
NM_000485.3(APRT):c.526C>T (p.Leu176Phe)353APRTPathogenic1909033869RCV001269414; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761238887612316:g.88876123G>A-
NM_000485.3(APRT):c.524C>T (p.Ser175Phe)353APRTLikely pathogenic1186881962RCV001269463; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761258887612516:g.88876125G>A-
NM_000485.3(APRT):c.522_524del (p.Ser175del)353APRTPathogenic1909034163RCV001269413; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761258887612716:g.88876125_88876127del-
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del)353APRTPathogenic/Likely pathogenic121912681RCV000019956|RCV002251916; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|16888761268887612816:g.88876126_88876128delClinGen:CA258146,OMIM:102600.0001C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.510del (p.Val171fs)353APRTPathogenic1909035155RCV001269462; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761398887613916:g.88876139_88876139del-
NM_000485.3(APRT):c.491G>A (p.Gly164Asp)353APRTPathogenic768425517RCV001269461; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761588887615816:g.88876158C>T-
NM_000485.3(APRT):c.482C>T (p.Ser161Leu)353APRTUncertain significance766909450RCV001055578|RCV002479337; NMedGen:CN517202|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761678887616716:g.88876167G>A-
NM_000485.3(APRT):c.472_474del (p.Glu158del)353APRTPathogenic1909037144RCV001269460; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761758887617716:g.88876175_88876177del-
NM_000485.3(APRT):c.461_462del (p.Val154fs)353APRTPathogenic1909038050RCV001269459; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761878887618816:g.88876187_88876188del-
NM_000485.3(APRT):c.460G>A (p.Val154Met)353APRTUncertain significance141669365RCV001954013|RCV002484814; NMedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761898887618988876189-
NM_000485.3(APRT):c.459C>T (p.Cys153=)353APRTLikely benign375131814RCV000981213|RCV002489445; NMedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761908887619016:g.88876190G>A-
NM_000485.3(APRT):c.457T>C (p.Cys153Arg)353APRTPathogenic764321075RCV001269458; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888761928887619216:g.88876192A>G-
NM_000485.3(APRT):c.448G>T (p.Val150Phe)353APRTPathogenic281860266RCV000033909; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888762018887620116:g.88876201C>AClinGen:CA343887,UniProtKB:P07741#VAR_022608C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.439C>T (p.Gln147Ter)353APRTLikely pathogenic745872435RCV001269457; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888762108887621016:g.88876210G>A-
NM_000485.3(APRT):c.433C>A (p.Arg145Ser)353APRTUncertain significance550667813RCV001120853; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888762168887621616:g.88876216G>T-
NM_000485.3(APRT):c.428T>C (p.Leu143Pro)353APRTPathogenic1909040577RCV001269456; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888762218887622116:g.88876221A>G-
NM_000485.3(APRT):c.411C>T (p.Asn137=)353APRTConflicting interpretations of pathogenicity142472789RCV001115915|RCV002069864; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C366190016888762388887623816:g.88876238G>A-
NM_000485.3(APRT):c.407T>C (p.Met136Thr)353APRTPathogenic28999113RCV000019958|RCV000033908; NMedGen:C0268121|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888762428887624216:g.88876242A>GClinGen:CA128035,UniProtKB:P07741#VAR_006749,OMIM:102600.0003C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.401-15C>T353APRTUncertain significance1449537193RCV001115916; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888762638887626316:g.88876263G>A-
NM_000485.3(APRT):c.400+14C>T353APRTLikely benign373048958RCV002145382|RCV002494320; NMedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888764648887646488876464-
NM_000485.3(APRT):c.400+2dup353APRTConflicting interpretations of pathogenicity745594160RCV000192216|RCV001208272; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900168887647588876476NC_000016.9:g.88876476dupClinGen:CA347281C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.400+3A>T353APRTPathogenic1909055310RCV001269454; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888764758887647516:g.88876475T>A-
NM_000485.3(APRT):c.400+1G>T353APRTPathogenic1317695590RCV001269453; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888764778887647716:g.88876477C>A-
NM_000485.3(APRT):c.398G>A (p.Gly133Asp)353APRTPathogenic1909055807RCV001269452; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888764808887648016:g.88876480C>T-
NM_000485.3(APRT):c.389T>C (p.Leu130Pro)353APRTLikely pathogenic1909056519RCV001269455; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888764898887648916:g.88876489A>G-
NM_000485.3(APRT):c.385C>T (p.Leu129=)353APRTLikely benign376129456RCV001495630|RCV002501701; NMedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888764938887649388876493-
NM_000485.3(APRT):c.380A>G (p.Asp127Gly)353APRTPathogenic1909057323RCV001269451; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888764988887649816:g.88876498T>C-
NM_000485.3(APRT):c.376G>A (p.Val126Met)353APRTUncertain significance75205792RCV001890388|RCV002478230; NMedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888765028887650288876502-
NM_000485.3(APRT):c.371T>G (p.Val124Gly)353APRTPathogenic1909057938RCV001269450; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888765078887650716:g.88876507A>C-
NM_000485.3(APRT):c.364A>C (p.Arg122=)353APRTConflicting interpretations of pathogenicity35095508RCV001115917|RCV002556285; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:CN51720216888765148887651416:g.88876514T>G-
NM_000485.3(APRT):c.359G>T (p.Gly120Val)353APRTPathogenic776948275RCV001269449; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888765198887651916:g.88876519C>A-
NM_000485.3(APRT):c.352G>C (p.Glu118Gln)353APRTPathogenic370665100RCV001269448; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888765268887652616:g.88876526C>G-
NM_000485.3(APRT):c.346G>A (p.Ala116Thr)353APRTConflicting interpretations of pathogenicity201944035RCV001115918|RCV001321688; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C366190016888765328887653216:g.88876532C>T-
NM_000485.3(APRT):c.334A>T (p.Ile112Phe)353APRTPathogenic767177754RCV001269447; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888765448887654416:g.88876544T>A-
NM_000485.3(APRT):c.329T>C (p.Leu110Pro)353APRTPathogenic104894508RCV000019962; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888765498887654916:g.88876549A>GClinGen:CA258148,UniProtKB:P07741#VAR_006748,OMIM:102600.0007C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.321+2dup353APRTPathogenic281860263RCV000033907; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888768288887682916:g.88876828_88876829insAClinGen:CA343886,OMIM:102600.0002C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.316G>A (p.Gly106Arg)353APRTUncertain significance780098835RCV000292516; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976168887683688876836NC_000016.9:g.88876836C>TClinGen:CA8234479C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.311A>G (p.Glu104Gly)353APRTPathogenic1909078308RCV001269446; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888768418887684116:g.88876841T>C-
NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA353APRTPathogenic-1RCV000019963; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888768568887710988876856OMIM:102600.0008
NM_000485.3(APRT):c.188-145_296del353APRTPathogenic1909079256RCV001269435; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888768568887710916:g.88876856_88876954del-
NM_000485.3(APRT):c.294G>A (p.Trp98Ter)353APRTPathogenic104894507RCV000033905; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888768588887685816:g.88876858C>TClinGen:CA343882,OMIM:102600.0005C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.289_290del (p.Leu97fs)353APRTPathogenic1437920638RCV001269445; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888768628887686316:g.88876862_88876863del-
NM_000485.3(APRT):c.286_287del (p.Thr96fs)353APRTPathogenic1449730265RCV001269444|RCV001880178; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:CN51720216888768658887686616:g.88876865_88876866del-
NM_000485.3(APRT):c.280_286del (p.Gly94fs)353APRTLikely pathogenic776240467RCV001269443; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888768668887687216:g.88876866_88876872del-
NM_000485.3(APRT):c.276G>A (p.Leu92=)353APRTConflicting interpretations of pathogenicity372253865RCV001115919|RCV002069865; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:CN51720216888768768887687616:g.88876876C>T-
NM_000485.3(APRT):c.266G>A (p.Arg89Gln)353APRTBenign/Likely benign150156607RCV001115920|RCV001489654; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C366190016888768868887688616:g.88876886C>T-
NM_000485.3(APRT):c.264G>T (p.Lys88Asn)353APRTPathogenic138781159RCV001269442; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888768888887688816:g.88876888C>A-
NM_000485.3(APRT):c.258_261dup (p.Lys88fs)353APRTPathogenic281860265RCV000033904; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888768908887689116:g.88876890_88876891insTCGGClinGen:CA343880,OMIM:102600.0006C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.259C>T (p.Arg87Ter)353APRTPathogenic3169258RCV001269441; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888768938887689316:g.88876893G>A-
NM_000485.3(APRT):c.250G>A (p.Val84Met)353APRTPathogenic200392753RCV001269440; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888769028887690216:g.88876902C>T-
NM_000485.3(APRT):c.227C>T (p.Ala76Val)353APRTPathogenic1909088511RCV001269439; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888769258887692516:g.88876925G>A-
NM_000485.3(APRT):c.216C>A (p.Gly72=)353APRTConflicting interpretations of pathogenicity377050219RCV000349759|RCV002056542; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:CN517202168887693688876936NC_000016.9:g.88876936G>TClinGen:CA8234510C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.200G>A (p.Arg67Gln)353APRTLikely pathogenic762509151RCV001269438; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888769528887695216:g.88876952C>T-
NM_000485.3(APRT):c.199C>T (p.Arg67Ter)353APRTPathogenic369681854RCV001269437; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888769538887695316:g.88876953G>A-
NM_000485.3(APRT):c.194A>T (p.Asp65Val)353APRTPathogenic104894506RCV000033903; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888769588887695816:g.88876958T>AClinGen:CA343879,UniProtKB:P07741#VAR_006747,OMIM:102600.0004C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.188G>A (p.Gly63Asp)353APRTLikely pathogenic1909091672RCV001269436; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888769648887696416:g.88876964C>T-
NM_000485.3(APRT):c.188-3C>G353APRTPathogenic766646831RCV001269434; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888769678887696716:g.88876967G>C-
NM_000485.3(APRT):c.184_187+22del353APRTPathogenic1909137923RCV001269433; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888779368887796116:g.88877936_88877961del-
NM_000485.3(APRT):c.180_181insT (p.Ile61fs)353APRTPathogenic1909139691RCV001269432; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888779648887796516:g.88877964_88877965insA-
NM_000485.3(APRT):c.175G>A (p.Asp59Asn)353APRTUncertain significance768268700RCV001914360|RCV002491915; NMedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888779708887797088877970-
NM_000485.3(APRT):c.162C>T (p.His54=)353APRTBenign/Likely benign145490332RCV000402305|RCV000964550; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900168887798388877983NC_000016.9:g.88877983G>AClinGen:CA8234553C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.160C>G (p.His54Asp)353APRTPathogenic752977102RCV001269431; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888779858887798516:g.88877985G>C-
NM_000485.3(APRT):c.119G>C (p.Arg40Pro)353APRTPathogenic1909144433RCV001269430; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888780268887802616:g.88878026C>G-
NM_000485.3(APRT):c.98T>C (p.Leu33Pro)353APRTPathogenic1909145695RCV001269429; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888780478887804716:g.88878047A>G-
NM_000485.3(APRT):c.84C>A (p.Asp28Glu)353APRTLikely pathogenic1344826245RCV001269428; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888780618887806116:g.88878061G>T-
NM_000485.3(APRT):c.82G>C (p.Asp28His)353APRTPathogenic1909147057RCV001269427; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888780638887806316:g.88878063C>G-
NM_000485.3(APRT):c.81-2A>G353APRTPathogenic751779314RCV001269426; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888780668887806616:g.88878066T>C-
NM_000485.3(APRT):c.81-3C>G353APRTPathogenic761838152RCV001269425; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888780678887806716:g.88878067G>C-
NM_000485.3(APRT):c.58C>T (p.Pro20Ser)353APRTLikely pathogenic1909160707RCV001269424; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888782508887825016:g.88878250G>A-
NM_000485.3(APRT):c.23dup (p.Val9fs)353APRTPathogenic1261219212RCV001269423; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888782848887828516:g.88878284_88878285insA-
NM_000485.3(APRT):c.13G>T (p.Glu5Ter)353APRTLikely pathogenic1244097151RCV001785957; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888782958887829588878295-
NM_000485.3(APRT):c.3G>A (p.Met1Ile)353APRTPathogenic918734933RCV001269422; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888783058887830516:g.88878305C>T-
NM_000485.3(APRT):c.2T>C (p.Met1Thr)353APRTPathogenic1180937573RCV001269421; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888783068887830616:g.88878306A>G-
NM_000485.3(APRT):c.1A>G (p.Met1Val)353APRTPathogenic930107496RCV001269420|RCV001384758; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:CN51720216888783078887830716:g.88878307T>C-
NM_000485.3(APRT):c.*182A>G-1APRT;GALNSConflicting interpretations of pathogenicity8191498RCV000300959|RCV000320818; NMONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888759248887592416:g.88875924T>CClinGen:CA8234305C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.*178A>G-1APRT;GALNSBenign4695RCV000353515|RCV000377670|RCV001642999; NMONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C366190016888759288887592816:g.88875928T>CClinGen:CA8234307C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.*47T>C-1APRT;GALNSLikely benign8191497RCV000261137|RCV000350708|RCV001575837; NMONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900168887605988876059NC_000016.9:g.88876059A>GClinGen:CA8234323C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.*3A>G-1APRT;GALNSBenign/Likely benign2070256RCV000323279|RCV000388967|RCV001653568; NMONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900168887610388876103NC_000016.9:g.88876103T>CClinGen:CA8234336C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.97C>T (p.Leu33=)-1APRT;GALNSBenign/Likely benign8191473RCV000307036|RCV000380514|RCV001518023; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MedGen:C3661900168887804888878048NC_000016.9:g.88878048G>AClinGen:CA8234567C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000485.3(APRT):c.90G>T (p.Ser30=)-1APRT;GALNSBenign/Likely benign8191472RCV000264930|RCV000345604|RCV000889785; NMONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900168887805588878055NC_000016.9:g.88878055C>AClinGen:CA8234570C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*701C>G-1APRT;GALNSBenign77936719RCV000292105|RCV000393994|RCV001117375; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582168888014688880146NC_000016.9:g.88880146G>CClinGen:CA10649271C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*652A>G-1APRT;GALNSBenign1135366RCV000305896|RCV000344622|RCV001117377; NMONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582168888019588880195NC_000016.9:g.88880195T>CClinGen:CA10649273C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*611A>G-1APRT;GALNSBenign1135364RCV000358140|RCV000382979|RCV001118986; NMONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582168888023688880236NC_000016.9:g.88880236T>CClinGen:CA10638661C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*524G>C-1APRT;GALNSBenign/Likely benign3759946RCV000260216|RCV000295639|RCV001118987; NMONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582168888032388880323NC_000016.9:g.88880323C>GClinGen:CA10644575C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*367T>C-1APRT;GALNSBenign1141390RCV000348247|RCV000388537|RCV001120959|RCV001597086; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582|MedGen:C3661900168888048088880480NC_000016.9:g.88880480A>GClinGen:CA10649277C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*296A>G-1APRT;GALNSBenign/Likely benign79507351RCV000277821|RCV000400354|RCV001120960|RCV001613028; NMONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582|MedGen:C3661900168888055188880551NC_000016.9:g.88880551T>CClinGen:CA10644582C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*224C>G-1APRT;GALNSBenign/Likely benign111233947RCV000299081|RCV000348177|RCV001116033|RCV001582962; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582|MedGen:C366190016888806238888062316:g.88880623G>CClinGen:CA10648348C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*212C>A-1APRT;GALNSUncertain significance117754023RCV001116034|RCV001118989; NMONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:97616888806358888063516:g.88880635G>T-
NM_000512.5(GALNS):c.*36G>A-1APRT;GALNSBenign11076715RCV000251496|RCV000302569|RCV000335305|RCV001117488|RCV001668438; NMedGen:CN169374|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582|MedGen:C366190016888808118888081116:g.88880811C>TClinGen:CA8234627C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_030928.4(CDT1):c.1521G>A (p.Pro507=)81620CDT1Benign/Likely benign139633564RCV000116643|RCV000970314|RCV002505041; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976168887456688874566NC_000016.9:g.88874566G>AClinGen:CA152262CN169374 not specified;
NM_000485.2(APRT):c.-50C>A-1GALNS;APRT;LOC130059760Benign/Likely benign8191469RCV000322291|RCV000383897|RCV001683467; NMONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MedGen:C366190016888783578887835716:g.88878357G>TClinGen:CA8234624C0268120 614723 Adenine phosphoribosyltransferase deficiency;
MSeqDR Portal