Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000485.3(APRT):c.*210A>G | 353 | APRT | Uncertain significance | 1184700495 | RCV001118891; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88875896 | 88875896 | | | 16:g.88875896T>C | - | | |
NM_000485.3(APRT):c.*178A>C | 353 | APRT | Likely benign | 4695 | RCV000262095; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88875928 | 88875928 | | | 16:g.88875928T>G | ClinGen:CA8234308 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.*152C>T | 353 | APRT | Uncertain significance | 137965502 | RCV000319131; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88875954 | 88875954 | | | 16:g.88875954G>A | ClinGen:CA8234313 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.*122C>T | 353 | APRT | Uncertain significance | 769271336 | RCV000371435; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88875984 | 88875984 | | | NC_000016.9:g.88875984G>A | ClinGen:CA8234319 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.*83G>A | 353 | APRT | Uncertain significance | 748634790 | RCV000279323; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876023 | 88876023 | | | NC_000016.9:g.88876023C>T | ClinGen:CA10644556 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.543A>T (p.Ter181Cys) | 353 | APRT | Pathogenic | 1909032484 | RCV001269418; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876106 | 88876106 | | | 16:g.88876106T>A | - | | |
NM_000485.3(APRT):c.542G>C (p.Ter181Ser) | 353 | APRT | Pathogenic | 387906584 | RCV000019964; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876107 | 88876107 | | | 16:g.88876107C>G | ClinGen:CA258149,OMIM:102600.0009 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.541T>C (p.Ter181Arg) | 353 | APRT | Pathogenic | 758634272 | RCV001269417; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876108 | 88876108 | | | 16:g.88876108A>G | - | | |
NM_000485.3(APRT):c.532C>T (p.Gln178Ter) | 353 | APRT | Pathogenic | 1165408563 | RCV001269416; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876117 | 88876117 | | | 16:g.88876117G>A | - | | |
NM_000485.3(APRT):c.526_530del (p.Leu176fs) | 353 | APRT | Pathogenic | 755380873 | RCV001269415; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876119 | 88876123 | | | 16:g.88876119_88876123del | - | | |
NM_000485.3(APRT):c.526C>T (p.Leu176Phe) | 353 | APRT | Pathogenic | 1909033869 | RCV001269414; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876123 | 88876123 | | | 16:g.88876123G>A | - | | |
NM_000485.3(APRT):c.524C>T (p.Ser175Phe) | 353 | APRT | Likely pathogenic | 1186881962 | RCV001269463; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876125 | 88876125 | | | 16:g.88876125G>A | - | | |
NM_000485.3(APRT):c.522_524del (p.Ser175del) | 353 | APRT | Pathogenic | 1909034163 | RCV001269413; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876125 | 88876127 | | | 16:g.88876125_88876127del | - | | |
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del) | 353 | APRT | Pathogenic/Likely pathogenic | 121912681 | RCV000019956|RCV002251916; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976| | 16 | 88876126 | 88876128 | | | 16:g.88876126_88876128del | ClinGen:CA258146,OMIM:102600.0001 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.510del (p.Val171fs) | 353 | APRT | Pathogenic | 1909035155 | RCV001269462; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876139 | 88876139 | | | 16:g.88876139_88876139del | - | | |
NM_000485.3(APRT):c.491G>A (p.Gly164Asp) | 353 | APRT | Pathogenic | 768425517 | RCV001269461; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876158 | 88876158 | | | 16:g.88876158C>T | - | | |
NM_000485.3(APRT):c.482C>T (p.Ser161Leu) | 353 | APRT | Uncertain significance | 766909450 | RCV001055578|RCV002479337; | N | MedGen:CN517202|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876167 | 88876167 | | | 16:g.88876167G>A | - | | |
NM_000485.3(APRT):c.472_474del (p.Glu158del) | 353 | APRT | Pathogenic | 1909037144 | RCV001269460; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876175 | 88876177 | | | 16:g.88876175_88876177del | - | | |
NM_000485.3(APRT):c.461_462del (p.Val154fs) | 353 | APRT | Pathogenic | 1909038050 | RCV001269459; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876187 | 88876188 | | | 16:g.88876187_88876188del | - | | |
NM_000485.3(APRT):c.460G>A (p.Val154Met) | 353 | APRT | Uncertain significance | 141669365 | RCV001954013|RCV002484814; | N | MedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876189 | 88876189 | | | 88876189 | - | | |
NM_000485.3(APRT):c.459C>T (p.Cys153=) | 353 | APRT | Likely benign | 375131814 | RCV000981213|RCV002489445; | N | MedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876190 | 88876190 | | | 16:g.88876190G>A | - | | |
NM_000485.3(APRT):c.457T>C (p.Cys153Arg) | 353 | APRT | Pathogenic | 764321075 | RCV001269458; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876192 | 88876192 | | | 16:g.88876192A>G | - | | |
NM_000485.3(APRT):c.448G>T (p.Val150Phe) | 353 | APRT | Pathogenic | 281860266 | RCV000033909; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876201 | 88876201 | | | 16:g.88876201C>A | ClinGen:CA343887,UniProtKB:P07741#VAR_022608 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.439C>T (p.Gln147Ter) | 353 | APRT | Likely pathogenic | 745872435 | RCV001269457; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876210 | 88876210 | | | 16:g.88876210G>A | - | | |
NM_000485.3(APRT):c.433C>A (p.Arg145Ser) | 353 | APRT | Uncertain significance | 550667813 | RCV001120853; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876216 | 88876216 | | | 16:g.88876216G>T | - | | |
NM_000485.3(APRT):c.428T>C (p.Leu143Pro) | 353 | APRT | Pathogenic | 1909040577 | RCV001269456; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876221 | 88876221 | | | 16:g.88876221A>G | - | | |
NM_000485.3(APRT):c.411C>T (p.Asn137=) | 353 | APRT | Conflicting interpretations of pathogenicity | 142472789 | RCV001115915|RCV002069864; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900 | 16 | 88876238 | 88876238 | | | 16:g.88876238G>A | - | | |
NM_000485.3(APRT):c.407T>C (p.Met136Thr) | 353 | APRT | Pathogenic | 28999113 | RCV000019958|RCV000033908; | N | MedGen:C0268121|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876242 | 88876242 | | | 16:g.88876242A>G | ClinGen:CA128035,UniProtKB:P07741#VAR_006749,OMIM:102600.0003 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.401-15C>T | 353 | APRT | Uncertain significance | 1449537193 | RCV001115916; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876263 | 88876263 | | | 16:g.88876263G>A | - | | |
NM_000485.3(APRT):c.400+14C>T | 353 | APRT | Likely benign | 373048958 | RCV002145382|RCV002494320; | N | MedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876464 | 88876464 | | | 88876464 | - | | |
NM_000485.3(APRT):c.400+2dup | 353 | APRT | Conflicting interpretations of pathogenicity | 745594160 | RCV000192216|RCV001208272; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900 | 16 | 88876475 | 88876476 | | | NC_000016.9:g.88876476dup | ClinGen:CA347281 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.400+3A>T | 353 | APRT | Pathogenic | 1909055310 | RCV001269454; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876475 | 88876475 | | | 16:g.88876475T>A | - | | |
NM_000485.3(APRT):c.400+1G>T | 353 | APRT | Pathogenic | 1317695590 | RCV001269453; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876477 | 88876477 | | | 16:g.88876477C>A | - | | |
NM_000485.3(APRT):c.398G>A (p.Gly133Asp) | 353 | APRT | Pathogenic | 1909055807 | RCV001269452; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876480 | 88876480 | | | 16:g.88876480C>T | - | | |
NM_000485.3(APRT):c.389T>C (p.Leu130Pro) | 353 | APRT | Likely pathogenic | 1909056519 | RCV001269455; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876489 | 88876489 | | | 16:g.88876489A>G | - | | |
NM_000485.3(APRT):c.385C>T (p.Leu129=) | 353 | APRT | Likely benign | 376129456 | RCV001495630|RCV002501701; | N | MedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876493 | 88876493 | | | 88876493 | - | | |
NM_000485.3(APRT):c.380A>G (p.Asp127Gly) | 353 | APRT | Pathogenic | 1909057323 | RCV001269451; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876498 | 88876498 | | | 16:g.88876498T>C | - | | |
NM_000485.3(APRT):c.376G>A (p.Val126Met) | 353 | APRT | Uncertain significance | 75205792 | RCV001890388|RCV002478230; | N | MedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876502 | 88876502 | | | 88876502 | - | | |
NM_000485.3(APRT):c.371T>G (p.Val124Gly) | 353 | APRT | Pathogenic | 1909057938 | RCV001269450; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876507 | 88876507 | | | 16:g.88876507A>C | - | | |
NM_000485.3(APRT):c.364A>C (p.Arg122=) | 353 | APRT | Conflicting interpretations of pathogenicity | 35095508 | RCV001115917|RCV002556285; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:CN517202 | 16 | 88876514 | 88876514 | | | 16:g.88876514T>G | - | | |
NM_000485.3(APRT):c.359G>T (p.Gly120Val) | 353 | APRT | Pathogenic | 776948275 | RCV001269449; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876519 | 88876519 | | | 16:g.88876519C>A | - | | |
NM_000485.3(APRT):c.352G>C (p.Glu118Gln) | 353 | APRT | Pathogenic | 370665100 | RCV001269448; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876526 | 88876526 | | | 16:g.88876526C>G | - | | |
NM_000485.3(APRT):c.346G>A (p.Ala116Thr) | 353 | APRT | Conflicting interpretations of pathogenicity | 201944035 | RCV001115918|RCV001321688; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900 | 16 | 88876532 | 88876532 | | | 16:g.88876532C>T | - | | |
NM_000485.3(APRT):c.334A>T (p.Ile112Phe) | 353 | APRT | Pathogenic | 767177754 | RCV001269447; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876544 | 88876544 | | | 16:g.88876544T>A | - | | |
NM_000485.3(APRT):c.329T>C (p.Leu110Pro) | 353 | APRT | Pathogenic | 104894508 | RCV000019962; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876549 | 88876549 | | | 16:g.88876549A>G | ClinGen:CA258148,UniProtKB:P07741#VAR_006748,OMIM:102600.0007 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.321+2dup | 353 | APRT | Pathogenic | 281860263 | RCV000033907; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876828 | 88876829 | | | 16:g.88876828_88876829insA | ClinGen:CA343886,OMIM:102600.0002 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.316G>A (p.Gly106Arg) | 353 | APRT | Uncertain significance | 780098835 | RCV000292516; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876836 | 88876836 | | | NC_000016.9:g.88876836C>T | ClinGen:CA8234479 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.311A>G (p.Glu104Gly) | 353 | APRT | Pathogenic | 1909078308 | RCV001269446; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876841 | 88876841 | | | 16:g.88876841T>C | - | | |
NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA | 353 | APRT | Pathogenic | -1 | RCV000019963; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876856 | 88877109 | | | 88876856 | OMIM:102600.0008 | | |
NM_000485.3(APRT):c.188-145_296del | 353 | APRT | Pathogenic | 1909079256 | RCV001269435; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876856 | 88877109 | | | 16:g.88876856_88876954del | - | | |
NM_000485.3(APRT):c.294G>A (p.Trp98Ter) | 353 | APRT | Pathogenic | 104894507 | RCV000033905; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876858 | 88876858 | | | 16:g.88876858C>T | ClinGen:CA343882,OMIM:102600.0005 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.289_290del (p.Leu97fs) | 353 | APRT | Pathogenic | 1437920638 | RCV001269445; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876862 | 88876863 | | | 16:g.88876862_88876863del | - | | |
NM_000485.3(APRT):c.286_287del (p.Thr96fs) | 353 | APRT | Pathogenic | 1449730265 | RCV001269444|RCV001880178; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:CN517202 | 16 | 88876865 | 88876866 | | | 16:g.88876865_88876866del | - | | |
NM_000485.3(APRT):c.280_286del (p.Gly94fs) | 353 | APRT | Likely pathogenic | 776240467 | RCV001269443; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876866 | 88876872 | | | 16:g.88876866_88876872del | - | | |
NM_000485.3(APRT):c.276G>A (p.Leu92=) | 353 | APRT | Conflicting interpretations of pathogenicity | 372253865 | RCV001115919|RCV002069865; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:CN517202 | 16 | 88876876 | 88876876 | | | 16:g.88876876C>T | - | | |
NM_000485.3(APRT):c.266G>A (p.Arg89Gln) | 353 | APRT | Benign/Likely benign | 150156607 | RCV001115920|RCV001489654; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900 | 16 | 88876886 | 88876886 | | | 16:g.88876886C>T | - | | |
NM_000485.3(APRT):c.264G>T (p.Lys88Asn) | 353 | APRT | Pathogenic | 138781159 | RCV001269442; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876888 | 88876888 | | | 16:g.88876888C>A | - | | |
NM_000485.3(APRT):c.258_261dup (p.Lys88fs) | 353 | APRT | Pathogenic | 281860265 | RCV000033904; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876890 | 88876891 | | | 16:g.88876890_88876891insTCGG | ClinGen:CA343880,OMIM:102600.0006 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.259C>T (p.Arg87Ter) | 353 | APRT | Pathogenic | 3169258 | RCV001269441; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876893 | 88876893 | | | 16:g.88876893G>A | - | | |
NM_000485.3(APRT):c.250G>A (p.Val84Met) | 353 | APRT | Pathogenic | 200392753 | RCV001269440; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876902 | 88876902 | | | 16:g.88876902C>T | - | | |
NM_000485.3(APRT):c.227C>T (p.Ala76Val) | 353 | APRT | Pathogenic | 1909088511 | RCV001269439; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876925 | 88876925 | | | 16:g.88876925G>A | - | | |
NM_000485.3(APRT):c.216C>A (p.Gly72=) | 353 | APRT | Conflicting interpretations of pathogenicity | 377050219 | RCV000349759|RCV002056542; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:CN517202 | 16 | 88876936 | 88876936 | | | NC_000016.9:g.88876936G>T | ClinGen:CA8234510 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.200G>A (p.Arg67Gln) | 353 | APRT | Likely pathogenic | 762509151 | RCV001269438; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876952 | 88876952 | | | 16:g.88876952C>T | - | | |
NM_000485.3(APRT):c.199C>T (p.Arg67Ter) | 353 | APRT | Pathogenic | 369681854 | RCV001269437; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876953 | 88876953 | | | 16:g.88876953G>A | - | | |
NM_000485.3(APRT):c.194A>T (p.Asp65Val) | 353 | APRT | Pathogenic | 104894506 | RCV000033903; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876958 | 88876958 | | | 16:g.88876958T>A | ClinGen:CA343879,UniProtKB:P07741#VAR_006747,OMIM:102600.0004 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.188G>A (p.Gly63Asp) | 353 | APRT | Likely pathogenic | 1909091672 | RCV001269436; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876964 | 88876964 | | | 16:g.88876964C>T | - | | |
NM_000485.3(APRT):c.188-3C>G | 353 | APRT | Pathogenic | 766646831 | RCV001269434; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88876967 | 88876967 | | | 16:g.88876967G>C | - | | |
NM_000485.3(APRT):c.184_187+22del | 353 | APRT | Pathogenic | 1909137923 | RCV001269433; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88877936 | 88877961 | | | 16:g.88877936_88877961del | - | | |
NM_000485.3(APRT):c.180_181insT (p.Ile61fs) | 353 | APRT | Pathogenic | 1909139691 | RCV001269432; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88877964 | 88877965 | | | 16:g.88877964_88877965insA | - | | |
NM_000485.3(APRT):c.175G>A (p.Asp59Asn) | 353 | APRT | Uncertain significance | 768268700 | RCV001914360|RCV002491915; | N | MedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88877970 | 88877970 | | | 88877970 | - | | |
NM_000485.3(APRT):c.162C>T (p.His54=) | 353 | APRT | Benign/Likely benign | 145490332 | RCV000402305|RCV000964550; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900 | 16 | 88877983 | 88877983 | | | NC_000016.9:g.88877983G>A | ClinGen:CA8234553 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.160C>G (p.His54Asp) | 353 | APRT | Pathogenic | 752977102 | RCV001269431; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88877985 | 88877985 | | | 16:g.88877985G>C | - | | |
NM_000485.3(APRT):c.119G>C (p.Arg40Pro) | 353 | APRT | Pathogenic | 1909144433 | RCV001269430; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878026 | 88878026 | | | 16:g.88878026C>G | - | | |
NM_000485.3(APRT):c.98T>C (p.Leu33Pro) | 353 | APRT | Pathogenic | 1909145695 | RCV001269429; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878047 | 88878047 | | | 16:g.88878047A>G | - | | |
NM_000485.3(APRT):c.84C>A (p.Asp28Glu) | 353 | APRT | Likely pathogenic | 1344826245 | RCV001269428; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878061 | 88878061 | | | 16:g.88878061G>T | - | | |
NM_000485.3(APRT):c.82G>C (p.Asp28His) | 353 | APRT | Pathogenic | 1909147057 | RCV001269427; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878063 | 88878063 | | | 16:g.88878063C>G | - | | |
NM_000485.3(APRT):c.81-2A>G | 353 | APRT | Pathogenic | 751779314 | RCV001269426; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878066 | 88878066 | | | 16:g.88878066T>C | - | | |
NM_000485.3(APRT):c.81-3C>G | 353 | APRT | Pathogenic | 761838152 | RCV001269425; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878067 | 88878067 | | | 16:g.88878067G>C | - | | |
NM_000485.3(APRT):c.58C>T (p.Pro20Ser) | 353 | APRT | Likely pathogenic | 1909160707 | RCV001269424; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878250 | 88878250 | | | 16:g.88878250G>A | - | | |
NM_000485.3(APRT):c.23dup (p.Val9fs) | 353 | APRT | Pathogenic | 1261219212 | RCV001269423; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878284 | 88878285 | | | 16:g.88878284_88878285insA | - | | |
NM_000485.3(APRT):c.13G>T (p.Glu5Ter) | 353 | APRT | Likely pathogenic | 1244097151 | RCV001785957; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878295 | 88878295 | | | 88878295 | - | | |
NM_000485.3(APRT):c.3G>A (p.Met1Ile) | 353 | APRT | Pathogenic | 918734933 | RCV001269422; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878305 | 88878305 | | | 16:g.88878305C>T | - | | |
NM_000485.3(APRT):c.2T>C (p.Met1Thr) | 353 | APRT | Pathogenic | 1180937573 | RCV001269421; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88878306 | 88878306 | | | 16:g.88878306A>G | - | | |
NM_000485.3(APRT):c.1A>G (p.Met1Val) | 353 | APRT | Pathogenic | 930107496 | RCV001269420|RCV001384758; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:CN517202 | 16 | 88878307 | 88878307 | | | 16:g.88878307T>C | - | | |
NM_000485.3(APRT):c.*182A>G | -1 | APRT;GALNS | Conflicting interpretations of pathogenicity | 8191498 | RCV000300959|RCV000320818; | N | MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88875924 | 88875924 | | | 16:g.88875924T>C | ClinGen:CA8234305 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.*178A>G | -1 | APRT;GALNS | Benign | 4695 | RCV000353515|RCV000377670|RCV001642999; | N | MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900 | 16 | 88875928 | 88875928 | | | 16:g.88875928T>C | ClinGen:CA8234307 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.*47T>C | -1 | APRT;GALNS | Likely benign | 8191497 | RCV000261137|RCV000350708|RCV001575837; | N | MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900 | 16 | 88876059 | 88876059 | | | NC_000016.9:g.88876059A>G | ClinGen:CA8234323 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.*3A>G | -1 | APRT;GALNS | Benign/Likely benign | 2070256 | RCV000323279|RCV000388967|RCV001653568; | N | MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900 | 16 | 88876103 | 88876103 | | | NC_000016.9:g.88876103T>C | ClinGen:CA8234336 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.97C>T (p.Leu33=) | -1 | APRT;GALNS | Benign/Likely benign | 8191473 | RCV000307036|RCV000380514|RCV001518023; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MedGen:C3661900 | 16 | 88878048 | 88878048 | | | NC_000016.9:g.88878048G>A | ClinGen:CA8234567 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000485.3(APRT):c.90G>T (p.Ser30=) | -1 | APRT;GALNS | Benign/Likely benign | 8191472 | RCV000264930|RCV000345604|RCV000889785; | N | MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MedGen:C3661900 | 16 | 88878055 | 88878055 | | | NC_000016.9:g.88878055C>A | ClinGen:CA8234570 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000512.5(GALNS):c.*701C>G | -1 | APRT;GALNS | Benign | 77936719 | RCV000292105|RCV000393994|RCV001117375; | N | MONDO: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 | 16 | 88880146 | 88880146 | | | NC_000016.9:g.88880146G>C | ClinGen:CA10649271 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000512.5(GALNS):c.*652A>G | -1 | APRT;GALNS | Benign | 1135366 | RCV000305896|RCV000344622|RCV001117377; | N | 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 | 16 | 88880195 | 88880195 | | | NC_000016.9:g.88880195T>C | ClinGen:CA10649273 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000512.5(GALNS):c.*611A>G | -1 | APRT;GALNS | Benign | 1135364 | RCV000358140|RCV000382979|RCV001118986; | N | 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 | 16 | 88880236 | 88880236 | | | NC_000016.9:g.88880236T>C | ClinGen:CA10638661 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000512.5(GALNS):c.*524G>C | -1 | APRT;GALNS | Benign/Likely benign | 3759946 | RCV000260216|RCV000295639|RCV001118987; | N | 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 | 16 | 88880323 | 88880323 | | | NC_000016.9:g.88880323C>G | ClinGen:CA10644575 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000512.5(GALNS):c.*367T>C | -1 | APRT;GALNS | Benign | 1141390 | RCV000348247|RCV000388537|RCV001120959|RCV001597086; | N | MONDO: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:C3661900 | 16 | 88880480 | 88880480 | | | NC_000016.9:g.88880480A>G | ClinGen:CA10649277 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000512.5(GALNS):c.*296A>G | -1 | APRT;GALNS | Benign/Likely benign | 79507351 | RCV000277821|RCV000400354|RCV001120960|RCV001613028; | N | 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:C3661900 | 16 | 88880551 | 88880551 | | | NC_000016.9:g.88880551T>C | ClinGen:CA10644582 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000512.5(GALNS):c.*224C>G | -1 | APRT;GALNS | Benign/Likely benign | 111233947 | RCV000299081|RCV000348177|RCV001116033|RCV001582962; | N | MONDO: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:C3661900 | 16 | 88880623 | 88880623 | | | 16:g.88880623G>C | ClinGen:CA10648348 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_000512.5(GALNS):c.*212C>A | -1 | APRT;GALNS | Uncertain significance | 117754023 | RCV001116034|RCV001118989; | N | MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88880635 | 88880635 | | | 16:g.88880635G>T | - | | |
NM_000512.5(GALNS):c.*36G>A | -1 | APRT;GALNS | Benign | 11076715 | RCV000251496|RCV000302569|RCV000335305|RCV001117488|RCV001668438; | N | MedGen: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:C3661900 | 16 | 88880811 | 88880811 | | | 16:g.88880811C>T | ClinGen:CA8234627 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |
NM_030928.4(CDT1):c.1521G>A (p.Pro507=) | 81620 | CDT1 | Benign/Likely benign | 139633564 | RCV000116643|RCV000970314|RCV002505041; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976 | 16 | 88874566 | 88874566 | | | NC_000016.9:g.88874566G>A | ClinGen:CA152262 | CN169374 not specified; | |
NM_000485.2(APRT):c.-50C>A | -1 | GALNS;APRT;LOC130059760 | Benign/Likely benign | 8191469 | RCV000322291|RCV000383897|RCV001683467; | N | MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582|MedGen:C3661900 | 16 | 88878357 | 88878357 | | | 16:g.88878357G>T | ClinGen:CA8234624 | C0268120 614723 Adenine phosphoribosyltransferase deficiency; | |