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Variants search result for Homo sapiens
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426 records found for search term Pgap1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151756112CV1336161single nucleotide variantNM_024989.4(PGAP1):c.-5G>CHereditary spastic paraplegia [RCV001848561]uncertain significance2196926621196926621Human1name
150418028CV1196789single nucleotide variantNM_024989.3(PGAP1):c.-94G>AHereditary spastic paraplegia [RCV001847305]|not provided [RCV001576563]likely benign|uncertain significance2196926710196926710Human2name
150418028CV1196789single nucleotide variantNM_024989.3(PGAP1):c.-94G>AHereditary spastic paraplegia [RCV001847305]|not provided [RCV001576563]likely benign|uncertain significance2196926710196926711Human2name
150462688CV1263696single nucleotide variantNM_024989.4(PGAP1):c.*205G>Cnot provided [RCV001682397]benign2196841029196841029Humanname
152154222CV1667859single nucleotide variantNM_024989.4(PGAP1):c.*203T>Cnot provided [RCV002221751]likely benign2196841031196841031Humanname
152034979CV1670070single nucleotide variantNM_024989.4(PGAP1):c.*173A>Gnot provided [RCV002223604]uncertain significance2196841061196841061Humanname
150546401CV1313725single nucleotide variantNM_024989.4(PGAP1):c.861-2A>GIntellectual disability, autosomal recessive 42 [RCV004527538]pathogenic2196897199196897199Human1name
151799918CV1383171single nucleotide variantNM_024989.4(PGAP1):c.478-3T>CIntellectual disability, autosomal recessive 42 [RCV001921226]uncertain significance2196913056196913056Human1name
156412473CV1890612single nucleotide variantNM_024989.4(PGAP1):c.301+7C>TIntellectual disability, autosomal recessive 42 [RCV003072907]likely benign2196919990196919990Human1name
156247718CV2086286single nucleotide variantNM_024989.4(PGAP1):c.927+9T>AIntellectual disability, autosomal recessive 42 [RCV002876831]likely benign2196897122196897122Human1name
155917431CV2091855single nucleotide variantNM_024989.4(PGAP1):c.148-9T>AIntellectual disability, autosomal recessive 42 [RCV002903169]likely benign2196920159196920159Human1name
156229387CV2121966single nucleotide variantNM_024989.4(PGAP1):c.301+5G>AIntellectual disability, autosomal recessive 42 [RCV002958449]uncertain significance2196919992196919992Human1name
156269651CV2135233single nucleotide variantNM_024989.4(PGAP1):c.807+5T>CIntellectual disability, autosomal recessive 42 [RCV002988775]uncertain significance2196902580196902580Human1name
155920034CV2148311single nucleotide variantNM_024989.4(PGAP1):c.147+5G>CIntellectual disability, autosomal recessive 42 [RCV003013137]uncertain significance2196926465196926465Human1name
156113554CV2212717single nucleotide variantNM_024989.4(PGAP1):c.478-4A>GInborn genetic diseases [RCV002707364]uncertain significance2196913057196913057Human1name
405070318CV3140183single nucleotide variantNM_024989.4(PGAP1):c.649+8C>GIntellectual disability, autosomal recessive 42 [RCV003833338]likely benign2196912874196912874Human1name
13217072CV427977single nucleotide variantNM_024989.4(PGAP1):c.927+1G>AIntellectual disability, autosomal recessive 42 [RCV000504407]pathogenic2196897130196897130Human1name
15128766CV695114single nucleotide variantNM_024989.4(PGAP1):c.927+4T>CHereditary spastic paraplegia [RCV001847099]|Inborn genetic diseases [RCV002539203]|Intellectual disability, autosomal recessive 42 [RCV000875541]|not provided [RCV003432846]likely benign|uncertain significance2196897127196897127Human3name
15136647CV695115single nucleotide variantNM_024989.4(PGAP1):c.650-6C>TIntellectual disability, autosomal recessive 42 [RCV000876858]|PGAP1-related disorder [RCV003930443]|not provided [RCV005243396]likely benign2196902748196902748Human1name , trait , alternate_id
15124271CV759083single nucleotide variantNM_024989.4(PGAP1):c.148-8A>TIntellectual disability, autosomal recessive 42 [RCV000918955]likely benign2196920158196920158Human1name
150529512CV1052844single nucleotide variantNM_024989.4(PGAP1):c.1221-3A>GIntellectual disability, autosomal recessive 42 [RCV001726504]pathogenic2196885478196885478Human1name
127230149CV1059125single nucleotide variantNM_024989.4(PGAP1):c.1952+1G>CIntellectual disability, autosomal recessive 42 [RCV001385052]pathogenic2196847946196847946Human1name
8555355CV106842single nucleotide variantNM_024989.4(PGAP1):c.1952+1G>TIntellectual disability, autosomal recessive 42 [RCV000087334]pathogenic|uncertain significance2196847946196847946Human1name
127322017CV1153936deletionNM_024989.4(PGAP1):c.1273-8delIntellectual disability, autosomal recessive 42 [RCV001523333]benign2196880161196880161Human1name
127312413CV1153938single nucleotide variantNM_024989.4(PGAP1):c.860+12C>AIntellectual disability, autosomal recessive 42 [RCV001518939]|not provided [RCV001534938]benign|likely benign2196898305196898305Human1name
127310794CV1153939single nucleotide variantNM_024989.4(PGAP1):c.649+17G>AIntellectual disability, autosomal recessive 42 [RCV001518400]|not provided [RCV001655769]benign2196912865196912865Human1name
150339473CV1174790deletionNM_024989.4(PGAP1):c.1089+5delnot provided [RCV001543527]likely pathogenic2196892341196892341Humanname
150417681CV1196788deletionNM_024989.4(PGAP1):c.860+99delnot provided [RCV001576406]likely benign2196898218196898218Humanname
150484246CV1245257single nucleotide variantNM_024989.4(PGAP1):c.927+31A>Gnot provided [RCV001653434]benign2196897100196897100Humanname
150488087CV1265196single nucleotide variantNM_024989.4(PGAP1):c.861-92A>Gnot provided [RCV001687232]benign2196897289196897289Humanname
151756090CV1336158single nucleotide variantNM_024989.4(PGAP1):c.2526-7A>GHereditary spastic paraplegia [RCV001848558]uncertain significance2196842832196842832Human1name
151791585CV1386264single nucleotide variantNM_024989.4(PGAP1):c.1220+3A>GIntellectual disability, autosomal recessive 42 [RCV001905338]uncertain significance2196885831196885831Human1name
151715102CV1413372single nucleotide variantNM_024989.4(PGAP1):c.2286+1G>AIntellectual disability, autosomal recessive 42 [RCV002018672]likely pathogenic2196845881196845881Human1name
151723511CV1478802single nucleotide variantNM_024989.4(PGAP1):c.2525+5G>AIntellectual disability, autosomal recessive 42 [RCV002045675]uncertain significance2196843883196843883Human1name
152166537CV1524390single nucleotide variantNM_024989.4(PGAP1):c.301+17G>TIntellectual disability, autosomal recessive 42 [RCV002141945]likely benign2196919980196919980Human1name
152071663CV1552155single nucleotide variantNM_024989.4(PGAP1):c.1729-4C>TIntellectual disability, autosomal recessive 42 [RCV002148165]likely benign2196870983196870983Human1name
152082712CV1558919single nucleotide variantNM_024989.4(PGAP1):c.148-18A>GIntellectual disability, autosomal recessive 42 [RCV002149524]likely benign2196920168196920168Human1name
152095648CV1559537single nucleotide variantNM_024989.4(PGAP1):c.649+11T>AIntellectual disability, autosomal recessive 42 [RCV002213322]benign2196912871196912871Human1name
152129351CV1584287single nucleotide variantNM_024989.4(PGAP1):c.302-17A>GIntellectual disability, autosomal recessive 42 [RCV002082650]likely benign2196916610196916610Human1name
152098342CV1595389single nucleotide variantNM_024989.4(PGAP1):c.301+15A>CIntellectual disability, autosomal recessive 42 [RCV002213665]likely benign2196919982196919982Human1name
152131777CV1604621duplicationNM_024989.4(PGAP1):c.927+12dupIntellectual disability, autosomal recessive 42 [RCV002099587]benign2196897118196897119Human1name
152140007CV1628700single nucleotide variantNM_024989.4(PGAP1):c.927+17T>CIntellectual disability, autosomal recessive 42 [RCV002100643]likely benign2196897114196897114Human1name
152034015CV1634703single nucleotide variantNM_024989.4(PGAP1):c.1090-4G>AIntellectual disability, autosomal recessive 42 [RCV002086900]likely benign2196890915196890915Human1name
152101384CV1649021single nucleotide variantNM_024989.4(PGAP1):c.928-17A>GIntellectual disability, autosomal recessive 42 [RCV002214056]likely benign2196893262196893262Human1name
156299925CV1929464single nucleotide variantNM_024989.4(PGAP1):c.478-15G>TIntellectual disability, autosomal recessive 42 [RCV002647587]likely benign2196913068196913068Human1name
156132502CV1962773single nucleotide variantNM_024989.4(PGAP1):c.928-20T>GIntellectual disability, autosomal recessive 42 [RCV002572282]likely benign2196893265196893265Human1name
156145277CV2037290single nucleotide variantNM_024989.4(PGAP1):c.807+14A>GIntellectual disability, autosomal recessive 42 [RCV002786664]likely benign2196902571196902571Human1name
156292817CV2065155single nucleotide variantNM_024989.4(PGAP1):c.477+12G>AIntellectual disability, autosomal recessive 42 [RCV002856823]likely benign2196916406196916406Human1name
156218482CV2087445deletionNM_024989.4(PGAP1):c.807+13delIntellectual disability, autosomal recessive 42 [RCV002875771]benign2196902572196902572Human1name
156229361CV2121965single nucleotide variantNM_024989.4(PGAP1):c.301+14G>AIntellectual disability, autosomal recessive 42 [RCV002958448]likely benign2196919983196919983Human1name
156279414CV2137469single nucleotide variantNM_024989.4(PGAP1):c.2525+4C>TIntellectual disability, autosomal recessive 42 [RCV003009544]uncertain significance2196843884196843884Human1name
156125641CV2185609single nucleotide variantNM_024989.4(PGAP1):c.2631-7T>CIntellectual disability, autosomal recessive 42 [RCV003055640]likely benign2196841379196841379Human1name
11040429CV224702single nucleotide variantNM_024989.4(PGAP1):c.1090-2A>GIntellectual disability, autosomal recessive 42 [RCV000208574]pathogenic2196890913196890913Human1name
401916285CV2795386single nucleotide variantNM_024989.4(PGAP1):c.1351-1G>TNeurodevelopmental disorder [RCV003389221]uncertain significance2196875822196875822Human1name
405149253CV2859642single nucleotide variantNM_024989.4(PGAP1):c.1351-2A>GIntellectual disability, autosomal recessive 42 [RCV003585501]likely pathogenic2196875823196875823Human1name
405141832CV2907731single nucleotide variantNM_024989.4(PGAP1):c.2287-1G>AIntellectual disability, autosomal recessive 42 [RCV003584201]likely pathogenic2196844575196844575Human1name
405007623CV3118242single nucleotide variantNM_024989.4(PGAP1):c.2526-4A>GIntellectual disability, autosomal recessive 42 [RCV003828672]likely benign2196842829196842829Human1name
402516855CV3179002single nucleotide variantNM_024989.4(PGAP1):c.860+16T>CIntellectual disability, autosomal recessive 42 [RCV003879435]likely benign2196898301196898301Human1name
12836018CV366822single nucleotide variantNM_024989.4(PGAP1):c.2286+6T>Gnot specified [RCV000422678]likely benign2196845876196845876Humanname
597894539CV3773323single nucleotide variantNM_024989.4(PGAP1):c.302-20T>GIntellectual disability, autosomal recessive 42 [RCV005111230]likely benign2196916613196916613Human1name
597953891CV3795650single nucleotide variantNM_024989.4(PGAP1):c.928-19G>AIntellectual disability, autosomal recessive 42 [RCV005136660]likely benign2196893264196893264Human1name
597861946CV3860463single nucleotide variantNM_024989.4(PGAP1):c.301+18T>CIntellectual disability, autosomal recessive 42 [RCV005195991]likely benign2196919979196919979Human1name
616934478CV4012483single nucleotide variantNM_024989.4(PGAP1):c.477+14A>Gnot specified [RCV005409520]likely benign2196916404196916404Humanname
13509451CV482304single nucleotide variantNM_024989.4(PGAP1):c.2286+5G>AIntellectual disability, autosomal recessive 42 [RCV000579389]uncertain significance2196845877196845877Human1name
13817586CV559514single nucleotide variantNM_024989.4(PGAP1):c.2338-2A>CIntellectual disability, autosomal recessive 42 [RCV000693120]likely pathogenic2196844077196844077Human1name
14696191CV612427single nucleotide variantNM_024989.4(PGAP1):c.1553-4A>GHigh myopia [RCV000785740]uncertain significance2196873030196873030Human2name
14708961CV658838single nucleotide variantNM_024989.4(PGAP1):c.1862-3C>THereditary spastic paraplegia [RCV001849128]|Intellectual disability, autosomal recessive 42 [RCV001519135]|not provided [RCV000832321]benign2196848040196848040Human2name
40815556CV970732single nucleotide variantNM_024989.4(PGAP1):c.1501-2A>GIntellectual disability, autosomal recessive 42 [RCV001263009]pathogenic2196873581196873581Human1name
40889484CV975018single nucleotide variantNM_024989.4(PGAP1):c.1089+1G>Anot provided [RCV001268002]likely pathogenic2196892345196892345Humanname
127301624CV1132995single nucleotide variantNM_024989.4(PGAP1):c.1173+10T>CIntellectual disability, autosomal recessive 42 [RCV001478759]likely benign2196890818196890818Human1name
127307436CV1153935single nucleotide variantNM_024989.4(PGAP1):c.1351-16A>GIntellectual disability, autosomal recessive 42 [RCV001517105]benign2196875837196875837Human1name
127305102CV1153937duplicationNM_024989.4(PGAP1):c.1273-17dupIntellectual disability, autosomal recessive 42 [RCV001516157]|not provided [RCV001655757]benign2196880160196880161Human1name
150470032CV1209248deletionNM_024989.4(PGAP1):c.649+301delnot provided [RCV001588359]likely benign2196912581196912581Humanname
150433551CV1216947single nucleotide variantNM_024989.4(PGAP1):c.1619+97A>Cnot provided [RCV001608849]benign2196872863196872863Humanname
150455750CV1220504single nucleotide variantNM_024989.4(PGAP1):c.861-272T>Cnot provided [RCV001612597]benign2196897469196897469Humanname
150501322CV1223675single nucleotide variantNM_024989.4(PGAP1):c.1350+45A>Gnot provided [RCV001620796]benign2196880031196880031Humanname
150494887CV1224976single nucleotide variantNM_024989.4(PGAP1):c.2151-46A>Gnot provided [RCV001619454]benign2196846063196846063Humanname
150459739CV1236137single nucleotide variantNM_024989.4(PGAP1):c.860+295C>Tnot provided [RCV001649108]benign2196898022196898022Humanname
150488508CV1237491single nucleotide variantNM_024989.4(PGAP1):c.808-157G>Tnot provided [RCV001654340]benign2196898526196898526Humanname
150431344CV1243664single nucleotide variantNM_024989.4(PGAP1):c.2286+64T>Cnot provided [RCV001663284]benign2196845818196845818Humanname
150509883CV1248406single nucleotide variantNM_024989.4(PGAP1):c.2338-82T>Cnot provided [RCV001659474]benign2196844157196844157Humanname
150505620CV1255520single nucleotide variantNM_024989.4(PGAP1):c.478-271C>Anot provided [RCV001677967]benign2196913324196913324Humanname
150493612CV1267182deletionNM_024989.4(PGAP1):c.2337+74delnot provided [RCV001688210]benign2196844450196844450Humanname
150499722CV1282934single nucleotide variantNM_024989.4(PGAP1):c.1553-83A>Gnot provided [RCV001718243]benign2196873109196873109Humanname
150513552CV1285204single nucleotide variantNM_024989.4(PGAP1):c.928-179G>Anot provided [RCV001722074]benign2196893424196893424Humanname
151235906CV1319334duplicationNM_024989.4(PGAP1):c.649+301dupnot provided [RCV001797279]likely benign2196912580196912581Humanname
152159744CV1544460single nucleotide variantNM_024989.4(PGAP1):c.1729-12G>AIntellectual disability, autosomal recessive 42 [RCV002122974]benign2196870991196870991Human1name
152094802CV1546033single nucleotide variantNM_024989.4(PGAP1):c.2287-11A>GIntellectual disability, autosomal recessive 42 [RCV002132484]benign2196844585196844585Human1name
152127376CV1572077single nucleotide variantNM_024989.4(PGAP1):c.2286+20C>GIntellectual disability, autosomal recessive 42 [RCV002217595]likely benign2196845862196845862Human1name
152030864CV1580908single nucleotide variantNM_024989.4(PGAP1):c.1862-19A>TIntellectual disability, autosomal recessive 42 [RCV002086239]likely benign2196848056196848056Human1name
152055988CV1583947single nucleotide variantNM_024989.4(PGAP1):c.2338-13T>CIntellectual disability, autosomal recessive 42 [RCV002208093]likely benign2196844088196844088Human1name
152106390CV1591682single nucleotide variantNM_024989.4(PGAP1):c.1220+19T>CIntellectual disability, autosomal recessive 42 [RCV002214869]benign2196885815196885815Human1name
152145722CV1649407single nucleotide variantNM_024989.4(PGAP1):c.2630+15T>CIntellectual disability, autosomal recessive 42 [RCV002121007]benign2196842706196842706Human1name
152154190CV1667852single nucleotide variantNM_024989.4(PGAP1):c.478-131T>Gnot provided [RCV002221744]likely benign2196913184196913184Humanname
152154205CV1667855single nucleotide variantNM_024989.4(PGAP1):c.1351-58G>Tnot provided [RCV002221747]likely benign2196875879196875879Humanname
152154218CV1667858single nucleotide variantNM_024989.4(PGAP1):c.1620-28A>Gnot provided [RCV002221750]likely benign2196872577196872577Humanname
156402229CV1889298single nucleotide variantNM_024989.4(PGAP1):c.2338-16C>TIntellectual disability, autosomal recessive 42 [RCV003069268]likely benign2196844091196844091Human1name
156375080CV1899297single nucleotide variantNM_024989.4(PGAP1):c.2286+11T>CIntellectual disability, autosomal recessive 42 [RCV003092793]likely benign2196845871196845871Human1name
156444129CV1937651duplicationNM_024989.4(PGAP1):c.1553-15dupIntellectual disability, autosomal recessive 42 [RCV003115048]benign2196873040196873041Human1name
156116776CV1982546single nucleotide variantNM_024989.4(PGAP1):c.1089+16A>GIntellectual disability, autosomal recessive 42 [RCV002622790]likely benign2196892330196892330Human1name
156214911CV1983651single nucleotide variantNM_024989.4(PGAP1):c.2287-12T>CIntellectual disability, autosomal recessive 42 [RCV002626223]likely benign2196844586196844586Human1name
156010737CV2039201single nucleotide variantNM_024989.4(PGAP1):c.1501-18G>AIntellectual disability, autosomal recessive 42 [RCV002795086]likely benign2196873597196873597Human1name
156309651CV2109451single nucleotide variantNM_024989.4(PGAP1):c.2338-19C>TIntellectual disability, autosomal recessive 42 [RCV002922997]benign2196844094196844094Human1name
156348654CV2125200single nucleotide variantNM_024989.4(PGAP1):c.1953-14T>GIntellectual disability, autosomal recessive 42 [RCV002966126]likely benign2196847214196847214Human1name
155943654CV2130058single nucleotide variantNM_024989.4(PGAP1):c.1426+17T>AIntellectual disability, autosomal recessive 42 [RCV002971453]likely benign2196875729196875729Human1name
405149792CV2878575single nucleotide variantNM_024989.4(PGAP1):c.2286+13A>GIntellectual disability, autosomal recessive 42 [RCV003585548]likely benign2196845869196845869Human1name
405248757CV2970199single nucleotide variantNM_024989.4(PGAP1):c.1553-16T>AIntellectual disability, autosomal recessive 42 [RCV003746900]likely benign2196873042196873042Human1name
405084212CV3167241single nucleotide variantNM_024989.4(PGAP1):c.1500+14A>TIntellectual disability, autosomal recessive 42 [RCV003851822]likely benign2196873671196873671Human1name
405237863CV3169201single nucleotide variantNM_024989.4(PGAP1):c.2287-20G>AIntellectual disability, autosomal recessive 42 [RCV003866480]likely benign2196844594196844594Human1name
405212872CV3169820single nucleotide variantNM_024989.4(PGAP1):c.2630+20C>AIntellectual disability, autosomal recessive 42 [RCV003862419]likely benign2196842701196842701Human1name
597850380CV3737230single nucleotide variantNM_024989.4(PGAP1):c.1173+16C>TIntellectual disability, autosomal recessive 42 [RCV005066196]likely benign2196890812196890812Human1name
597844708CV3752652single nucleotide variantNM_024989.4(PGAP1):c.1620-19A>GIntellectual disability, autosomal recessive 42 [RCV005087058]likely benign2196872568196872568Human1name
597946766CV3755646single nucleotide variantNM_024989.4(PGAP1):c.1953-13C>AIntellectual disability, autosomal recessive 42 [RCV005078656]likely benign2196847213196847213Human1name
597865530CV3792658single nucleotide variantNM_024989.4(PGAP1):c.2526-19T>CIntellectual disability, autosomal recessive 42 [RCV005147465]likely benign2196842844196842844Human1name
597952626CV3798802single nucleotide variantNM_024989.4(PGAP1):c.1351-13T>AIntellectual disability, autosomal recessive 42 [RCV005136376]likely benign2196875834196875834Human1name
597927870CV3855568deletionNM_024989.4(PGAP1):c.1221-17delIntellectual disability, autosomal recessive 42 [RCV005206167]benign2196885492196885492Human1name
15133976CV695113single nucleotide variantNM_024989.4(PGAP1):c.1952+10A>CIntellectual disability, autosomal recessive 42 [RCV000876396]|not provided [RCV004710199]benign2196847937196847937Human1name
15100790CV774674single nucleotide variantNM_024989.4(PGAP1):c.1173+10T>Gnot provided [RCV000936683]likely benign2196890818196890818Humanname
150332611CV1168884deletionNM_024989.4(PGAP1):c.1953-259delnot provided [RCV001536969]likely benign2196847459196847459Humanname
150335024CV1170866single nucleotide variantNM_024989.4(PGAP1):c.1953-303T>Cnot provided [RCV001540361]benign2196847503196847503Humanname
150423720CV1183078deletionNM_024989.4(PGAP1):c.2286+293delnot provided [RCV001555703]likely benign2196845589196845589Humanname
150405169CV1193048duplicationNM_024989.4(PGAP1):c.2630+191dupnot provided [RCV001571502]likely benign2196842521196842522Humanname
150503118CV1212405single nucleotide variantNM_024989.4(PGAP1):c.1173+257G>Anot provided [RCV001595280]benign2196890571196890571Humanname
150445752CV1215547single nucleotide variantNM_024989.4(PGAP1):c.1090-261G>Cnot provided [RCV001611140]benign2196891172196891172Humanname
150466566CV1218211single nucleotide variantNM_024989.4(PGAP1):c.1862-104A>Gnot provided [RCV001614337]benign2196848141196848141Humanname
150468713CV1218953duplicationNM_024989.4(PGAP1):c.1953-275dupnot provided [RCV001614705]benign2196847458196847459Humanname
150442370CV1250383single nucleotide variantNM_024989.4(PGAP1):c.1273-244A>Gnot provided [RCV001666537]benign2196880397196880397Humanname
150452963CV1255031single nucleotide variantNM_024989.4(PGAP1):c.1426+199T>Anot provided [RCV001668090]benign2196875547196875547Humanname
150458363CV1259033single nucleotide variantNM_024989.4(PGAP1):c.1553-250A>Gnot provided [RCV001681752]benign2196873276196873276Humanname
150475479CV1263508single nucleotide variantNM_024989.4(PGAP1):c.1953-182G>Anot provided [RCV001685031]benign2196847382196847382Humanname
150462496CV1264744duplicationNM_024989.4(PGAP1):c.2286+279dupnot provided [RCV001682368]benign2196845588196845589Humanname
150513559CV1285207single nucleotide variantNM_024989.4(PGAP1):c.1272+106C>Tnot provided [RCV001722077]benign2196885318196885318Humanname
152154159CV1667846deletionNM_024989.4(PGAP1):c.1952+133delnot provided [RCV002221738]likely benign2196847814196847814Humanname
152154195CV1667853single nucleotide variantNM_024989.4(PGAP1):c.1034-164G>Anot provided [RCV002221745]likely benign2196892565196892565Humanname
152154201CV1667854single nucleotide variantNM_024989.4(PGAP1):c.1174-133G>Anot provided [RCV002221746]likely benign2196886013196886013Humanname
152154209CV1667856single nucleotide variantNM_024989.4(PGAP1):c.1426+174A>Cnot provided [RCV002221748]likely benign2196875572196875572Humanname
155642071CV1707232single nucleotide variantNM_024989.4(PGAP1):c.2525+161G>Tnot provided [RCV002288162]likely benign2196843727196843727Humanname
150455377CV1246907microsatelliteNM_024989.4(PGAP1):c.1350+84CA[3]not provided [RCV001668675]benign2196879988196879989Humanname
126760516CV1003580microsatelliteNM_024989.4(PGAP1):c.808-7_808-3delHereditary spastic paraplegia [RCV001847238]|Intellectual disability, autosomal recessive 42 [RCV001318362]likely benign|uncertain significance2196898372196898376Humanname
150516171CV1228261microsatelliteNM_024989.4(PGAP1):c.807+173GAAT[6]not provided [RCV001639067]benign2196902396196902397Humanname
151756133CV1336164single nucleotide variantNM_024989.4(PGAP1):c.84C>G (p.Val28=)Hereditary spastic paraplegia [RCV001848564]likely benign2196926533196926533Human1name
152152866CV1545157single nucleotide variantNM_024989.4(PGAP1):c.36G>A (p.Ala12=)Intellectual disability, autosomal recessive 42 [RCV002139788]likely benign2196926581196926581Human1name
152094321CV1565742microsatelliteNM_024989.4(PGAP1):c.861-14_861-11delIntellectual disability, autosomal recessive 42 [RCV002150998]benign2196897208196897211Humanname
156289380CV1890611deletionNM_024989.4(PGAP1):c.301+10_301+12delIntellectual disability, autosomal recessive 42 [RCV003087418]likely benign2196919985196919987Human1name
156100345CV2042160deletionNM_024989.4(PGAP1):c.20del (p.Asn7fs)Intellectual disability, autosomal recessive 42 [RCV002761297]pathogenic2196926597196926597Human1name
15190634CV762758single nucleotide variantNM_024989.4(PGAP1):c.39T>C (p.Phe13=)Intellectual disability, autosomal recessive 42 [RCV002542264]likely benign2196926578196926578Human1name
156001310CV1872880single nucleotide variantNM_024989.4(PGAP1):c.22C>A (p.Leu8Ile)Intellectual disability, autosomal recessive 42 [RCV003076599]uncertain significance2196926595196926595Human1name
156061163CV1924479single nucleotide variantNM_024989.4(PGAP1):c.186C>T (p.Pro62=)Intellectual disability, autosomal recessive 42 [RCV002659704]likely benign2196920112196920112Human1name
156078998CV2138076single nucleotide variantNM_024989.4(PGAP1):c.189A>G (p.Ala63=)Intellectual disability, autosomal recessive 42 [RCV002979192]likely benign2196920109196920109Human1name
155997000CV2171655single nucleotide variantNM_024989.4(PGAP1):c.129T>C (p.Phe43=)Intellectual disability, autosomal recessive 42 [RCV003034591]likely benign2196926488196926488Human1name
405249126CV2969316single nucleotide variantNM_024989.4(PGAP1):c.195G>A (p.Glu65=)Intellectual disability, autosomal recessive 42 [RCV003746997]likely benign2196920103196920103Human1name
15137632CV691002single nucleotide variantNM_024989.4(PGAP1):c.108G>A (p.Lys36=)Intellectual disability, autosomal recessive 42 [RCV000877032]likely benign2196926509196926509Human1name
126770710CV1024045single nucleotide variantNM_024989.4(PGAP1):c.55T>C (p.Phe19Leu)Hereditary spastic paraplegia [RCV001847245]|Intellectual disability, autosomal recessive 42 [RCV001344625]uncertain significance2196926562196926562Human2name
127230200CV1068899single nucleotide variantNM_024989.4(PGAP1):c.705A>G (p.Leu235=)Intellectual disability, autosomal recessive 42 [RCV001401295]likely benign2196902687196902687Human1name
150431968CV1200491duplicationNM_024989.4(PGAP1):c.927+280_927+281dupnot provided [RCV001581213]likely benign2196896828196896829Humanname
150467588CV1207122duplicationNM_024989.4(PGAP1):c.649+275_649+277dupnot provided [RCV001587914]likely benign2196912580196912581Humanname
151354666CV1327733single nucleotide variantNM_024989.4(PGAP1):c.44T>C (p.Val15Ala)not specified [RCV001819208]uncertain significance2196926573196926573Humanname
151756099CV1336159single nucleotide variantNM_024989.4(PGAP1):c.492T>G (p.Ala164=)Hereditary spastic paraplegia [RCV001848559]|Intellectual disability, autosomal recessive 42 [RCV002543418]|not provided [RCV004693780]likely benign|uncertain significance2196913039196913039Human2name
151756106CV1336160single nucleotide variantNM_024989.4(PGAP1):c.585T>C (p.Asn195=)Hereditary spastic paraplegia [RCV001848560]|Intellectual disability, autosomal recessive 42 [RCV002074419]likely benign|uncertain significance2196912946196912946Human2name
151756120CV1336162single nucleotide variantNM_024989.4(PGAP1):c.636T>C (p.Asp212=)Hereditary spastic paraplegia [RCV001848562]uncertain significance2196912895196912895Human1name
151756141CV1336165single nucleotide variantNM_024989.4(PGAP1):c.873G>A (p.Leu291=)Hereditary spastic paraplegia [RCV001848565]uncertain significance2196897185196897185Human1name
152136309CV1528453single nucleotide variantNM_024989.4(PGAP1):c.876G>A (p.Gln292=)Intellectual disability, autosomal recessive 42 [RCV002100164]likely benign2196897182196897182Human1name
152149514CV1535548deletionNM_024989.4(PGAP1):c.1273-18_1273-16delIntellectual disability, autosomal recessive 42 [RCV002157956]likely benign2196880169196880171Human1name
152096613CV1558009single nucleotide variantNM_024989.4(PGAP1):c.849C>G (p.Leu283=)Intellectual disability, autosomal recessive 42 [RCV002172540]likely benign2196898328196898328Human1name
152106550CV1560101insertionNM_024989.4(PGAP1):c.2150+9_2150+10insAIntellectual disability, autosomal recessive 42 [RCV002133924]likely benign2196846993196846994Human1name
152136826CV1608760deletionNM_024989.4(PGAP1):c.1220+10_1220+11delIntellectual disability, autosomal recessive 42 [RCV002119816]likely benign2196885823196885824Human1name
152105342CV1614656single nucleotide variantNM_024989.4(PGAP1):c.630A>G (p.Pro210=)Intellectual disability, autosomal recessive 42 [RCV002079528]likely benign2196912901196912901Human1name
156045254CV1868655deletionNM_024989.4(PGAP1):c.1351-22_1351-19delIntellectual disability, autosomal recessive 42 [RCV003052801]likely benign2196875840196875843Human1name
156060873CV1876354deletionNM_024989.4(PGAP1):c.1729-16_1729-13delIntellectual disability, autosomal recessive 42 [RCV003053339]uncertain significance2196870992196870995Human1name
156017394CV2044183single nucleotide variantNM_024989.4(PGAP1):c.43G>A (p.Val15Ile)Inborn genetic diseases [RCV002795416]|Intellectual disability, autosomal recessive 42 [RCV002781561]uncertain significance2196926574196926574Human2name
155950302CV2046662single nucleotide variantNM_024989.4(PGAP1):c.91G>A (p.Gly31Ser)Intellectual disability, autosomal recessive 42 [RCV002775738]uncertain significance2196926526196926526Human1name
156214607CV2087394deletionNM_024989.4(PGAP1):c.275del (p.Pro92fs)Intellectual disability, autosomal recessive 42 [RCV002852964]pathogenic2196920023196920023Human1name
155983788CV2094562single nucleotide variantNM_024989.4(PGAP1):c.984C>T (p.His328=)Intellectual disability, autosomal recessive 42 [RCV002907828]likely benign2196893189196893189Human1name
156029478CV2105374single nucleotide variantNM_024989.4(PGAP1):c.573T>C (p.His191=)Intellectual disability, autosomal recessive 42 [RCV002909999]likely benign2196912958196912958Human1name
155903384CV2127105single nucleotide variantNM_024989.4(PGAP1):c.684A>G (p.Leu228=)Intellectual disability, autosomal recessive 42 [RCV002967558]likely benign2196902708196902708Human1name
156149312CV2131134single nucleotide variantNM_024989.4(PGAP1):c.82G>A (p.Val28Ile)Intellectual disability, autosomal recessive 42 [RCV002982595]uncertain significance2196926535196926535Human1name
329847371CV2543853deletionNM_024989.4(PGAP1):c.289del (p.Ser97fs)Intellectual disability, autosomal recessive 42 [RCV003228789]likely pathogenic2196920009196920009Human1name
405150468CV2884549single nucleotide variantNM_024989.4(PGAP1):c.915T>C (p.Ala305=)Intellectual disability, autosomal recessive 42 [RCV003585607]likely benign2196897143196897143Human1name
405141253CV2899943single nucleotide variantNM_024989.4(PGAP1):c.951A>G (p.Lys317=)Intellectual disability, autosomal recessive 42 [RCV003584142]likely benign2196893222196893222Human1name
405248892CV2953896single nucleotide variantNM_024989.4(PGAP1):c.822T>G (p.Pro274=)Intellectual disability, autosomal recessive 42 [RCV003746814]likely benign2196898355196898355Human1name
405248869CV2964527single nucleotide variantNM_024989.4(PGAP1):c.891A>C (p.Arg297=)Intellectual disability, autosomal recessive 42 [RCV003746936]likely benign2196897167196897167Human1name
405250484CV3063142single nucleotide variantNM_024989.4(PGAP1):c.52G>A (p.Val18Ile)Intellectual disability, autosomal recessive 42 [RCV003747549]uncertain significance2196926565196926565Human1name
407464249CV3466868single nucleotide variantNM_024989.4(PGAP1):c.92G>A (p.Gly31Asp)Inborn genetic diseases [RCV004659903]uncertain significance2196926525196926525Human1name
597714094CV3575883single nucleotide variantNM_024989.4(PGAP1):c.50T>A (p.Met17Lys)Inborn genetic diseases [RCV004959503]uncertain significance2196926567196926567Human1name
597714076CV3575887single nucleotide variantNM_024989.4(PGAP1):c.98A>G (p.Glu33Gly)Inborn genetic diseases [RCV004959506]uncertain significance2196926519196926519Human1name
597922175CV3775661single nucleotide variantNM_024989.4(PGAP1):c.624G>A (p.Val208=)Intellectual disability, autosomal recessive 42 [RCV005115376]likely benign2196912907196912907Human1name
597929277CV3837411single nucleotide variantNM_024989.4(PGAP1):c.426G>A (p.Lys142=)Intellectual disability, autosomal recessive 42 [RCV005185569]likely benign2196916469196916469Human1name
597946265CV3841613microsatelliteNM_024989.4(PGAP1):c.1174-20_1174-16delIntellectual disability, autosomal recessive 42 [RCV005189046]likely benign2196885896196885900Humanname
597934613CV3844741single nucleotide variantNM_024989.4(PGAP1):c.996T>C (p.His332=)Intellectual disability, autosomal recessive 42 [RCV005186247]likely benign2196893177196893177Human1name
598262280CV3999775single nucleotide variantNM_024989.4(PGAP1):c.51G>C (p.Met17Ile)Inborn genetic diseases [RCV005387057]uncertain significance2196926566196926566Human1name
598262296CV3999780single nucleotide variantNM_024989.4(PGAP1):c.963G>A (p.Leu321=)Inborn genetic diseases [RCV005387061]likely benign2196893210196893210Human1name
13215529CV427978single nucleotide variantNM_024989.4(PGAP1):c.906T>C (p.Leu302=)Hereditary spastic paraplegia [RCV001848873]|Intellectual disability, autosomal recessive 42 [RCV000527780]|not provided [RCV001311572]|not specified [RCV000502521]benign|likely benign2196897152196897152Human2name
13472808CV450374single nucleotide variantNM_024989.4(PGAP1):c.534T>G (p.Leu178=)Hereditary spastic paraplegia [RCV001848973]|Intellectual disability, autosomal recessive 42 [RCV000547510]|not provided [RCV001672861]benign2196912997196912997Human2name
13814388CV559516single nucleotide variantNM_024989.4(PGAP1):c.31C>G (p.Leu11Val)Intellectual disability, autosomal recessive 42 [RCV000705001]uncertain significance2196926586196926586Human1name
15179536CV697226single nucleotide variantNM_024989.4(PGAP1):c.546A>G (p.Ala182=)Intellectual disability, autosomal recessive 42 [RCV001393099]likely benign2196912985196912985Human1name
38485091CV922503single nucleotide variantNM_024989.4(PGAP1):c.34G>T (p.Ala12Ser)Intellectual disability, autosomal recessive 42 [RCV001219722]uncertain significance2196926583196926583Human1name
126763978CV1024044single nucleotide variantNM_024989.4(PGAP1):c.153A>G (p.Ile51Met)Intellectual disability, autosomal recessive 42 [RCV001341484]|not provided [RCV005051895]uncertain significance2196920145196920145Human1name
127230463CV1090557single nucleotide variantNM_024989.4(PGAP1):c.1209C>T (p.Ser403=)Intellectual disability, autosomal recessive 42 [RCV001423999]likely benign2196885845196885845Human1name
127230527CV1090558single nucleotide variantNM_024989.4(PGAP1):c.1008T>C (p.Asn336=)Intellectual disability, autosomal recessive 42 [RCV001443927]likely benign2196893165196893165Human1name
151756028CV1336150single nucleotide variantNM_024989.4(PGAP1):c.1638A>G (p.Glu546=)Hereditary spastic paraplegia [RCV001848550]|Intellectual disability, autosomal recessive 42 [RCV002074418]likely benign|uncertain significance2196872531196872531Human2name
151756041CV1336152single nucleotide variantNM_024989.4(PGAP1):c.179G>A (p.Arg60His)Hereditary spastic paraplegia [RCV001848552]uncertain significance2196920119196920119Human1name
151756064CV1336155single nucleotide variantNM_024989.4(PGAP1):c.2388C>T (p.Asp796=)Hereditary spastic paraplegia [RCV001848555]|Intellectual disability, autosomal recessive 42 [RCV002543416]likely benign|uncertain significance2196844025196844025Human2name
151828677CV1362270single nucleotide variantNM_024989.4(PGAP1):c.1230G>T (p.Gly410=)Intellectual disability, autosomal recessive 42 [RCV001979034]likely benign|uncertain significance2196885466196885466Human1name
151714287CV1369141single nucleotide variantNM_024989.4(PGAP1):c.124A>G (p.Met42Val)Intellectual disability, autosomal recessive 42 [RCV002015254]|not provided [RCV004785441]uncertain significance2196926493196926493Human1name
151811362CV1398900single nucleotide variantNM_024989.4(PGAP1):c.100G>A (p.Glu34Lys)Inborn genetic diseases [RCV004656692]|Intellectual disability, autosomal recessive 42 [RCV001942847]uncertain significance2196926517196926517Human2name
151821867CV1498167insertionNM_024989.4(PGAP1):c.1350+4_1350+5insAAAIntellectual disability, autosomal recessive 42 [RCV001965801]uncertain significance2196880071196880072Human1name
152174268CV1536236single nucleotide variantNM_024989.4(PGAP1):c.2073G>A (p.Thr691=)Intellectual disability, autosomal recessive 42 [RCV002144381]likely benign2196847080196847080Human1name
152105045CV1536623single nucleotide variantNM_024989.4(PGAP1):c.2724T>C (p.Phe908=)Intellectual disability, autosomal recessive 42 [RCV002173600]likely benign2196841279196841279Human1name
152101632CV1546995single nucleotide variantNM_024989.4(PGAP1):c.2199C>T (p.Pro733=)Intellectual disability, autosomal recessive 42 [RCV002151881]likely benign2196845969196845969Human1name
156408319CV1869951single nucleotide variantNM_024989.4(PGAP1):c.1182T>C (p.Asn394=)Intellectual disability, autosomal recessive 42 [RCV003071220]likely benign2196885872196885872Human1name
156188226CV1882640single nucleotide variantNM_024989.4(PGAP1):c.2709T>C (p.Tyr903=)Intellectual disability, autosomal recessive 42 [RCV003083786]likely benign2196841294196841294Human1name
156122119CV1969235single nucleotide variantNM_024989.4(PGAP1):c.1743T>A (p.Thr581=)Intellectual disability, autosomal recessive 42 [RCV002593171]likely benign2196870965196870965Human1name
156392724CV1987734single nucleotide variantNM_024989.4(PGAP1):c.1113A>G (p.Thr371=)Intellectual disability, autosomal recessive 42 [RCV002635146]likely benign2196890888196890888Human1name
156011835CV2016766single nucleotide variantNM_024989.4(PGAP1):c.1953G>C (p.Gly651=)Intellectual disability, autosomal recessive 42 [RCV002734935]uncertain significance2196847200196847200Human1name
156224036CV2037840single nucleotide variantNM_024989.4(PGAP1):c.251C>T (p.Thr84Met)Intellectual disability, autosomal recessive 42 [RCV002790739]uncertain significance2196920047196920047Human1name
155908188CV2044518single nucleotide variantNM_024989.4(PGAP1):c.2352T>C (p.Ser784=)Intellectual disability, autosomal recessive 42 [RCV002771387]likely benign2196844061196844061Human1name
156145936CV2090882single nucleotide variantNM_024989.4(PGAP1):c.104A>G (p.Asn35Ser)Intellectual disability, autosomal recessive 42 [RCV002890484]uncertain significance2196926513196926513Human1name
156209216CV2103957single nucleotide variantNM_024989.4(PGAP1):c.2301A>G (p.Gln767=)Intellectual disability, autosomal recessive 42 [RCV002931992]likely benign2196844560196844560Human1name
405005238CV2848833single nucleotide variantNM_024989.4(PGAP1):c.1272G>A (p.Lys424=)Intellectual disability, autosomal recessive 42 [RCV003492886]likely pathogenic2196885424196885424Human1name
405148893CV2862044single nucleotide variantNM_024989.4(PGAP1):c.2040C>T (p.Pro680=)Intellectual disability, autosomal recessive 42 [RCV003585469]likely benign2196847113196847113Human1name
405150643CV2885245single nucleotide variantNM_024989.4(PGAP1):c.1362T>C (p.Asp454=)Intellectual disability, autosomal recessive 42 [RCV003585623]likely benign2196875810196875810Human1name
405140764CV2886991single nucleotide variantNM_024989.4(PGAP1):c.2137C>T (p.Leu713=)Intellectual disability, autosomal recessive 42 [RCV003584091]likely benign2196847016196847016Human1name
405141350CV2896113single nucleotide variantNM_024989.4(PGAP1):c.1458A>C (p.Thr486=)Intellectual disability, autosomal recessive 42 [RCV003584152]likely benign2196873727196873727Human1name
405248498CV2954057single nucleotide variantNM_024989.4(PGAP1):c.1617A>G (p.Ala539=)Intellectual disability, autosomal recessive 42 [RCV003746815]likely benign2196872962196872962Human1name
405249719CV3001605single nucleotide variantNM_024989.4(PGAP1):c.1869C>T (p.Cys623=)Intellectual disability, autosomal recessive 42 [RCV003747246]likely benign2196848030196848030Human1name
405140771CV3125842single nucleotide variantNM_024989.4(PGAP1):c.1755A>G (p.Gln585=)Intellectual disability, autosomal recessive 42 [RCV003816757]likely benign2196870953196870953Human1name
407528938CV3466866single nucleotide variantNM_024989.4(PGAP1):c.115A>G (p.Met39Val)Inborn genetic diseases [RCV004655787]uncertain significance2196926502196926502Human1name
408367384CV3512254single nucleotide variantNM_024989.4(PGAP1):c.1650A>G (p.Lys550=)PGAP1-related disorder [RCV004758462]likely benign2196872519196872519Humanname , trait , alternate_id
597943236CV3757941single nucleotide variantNM_024989.4(PGAP1):c.2742A>G (p.Leu914=)Intellectual disability, autosomal recessive 42 [RCV005077940]likely benign2196841261196841261Human1name
597830991CV3820180single nucleotide variantNM_024989.4(PGAP1):c.1671A>G (p.Glu557=)Intellectual disability, autosomal recessive 42 [RCV005169958]likely benign2196872498196872498Human1name
597947896CV3852373single nucleotide variantNM_024989.4(PGAP1):c.1614T>C (p.Ile538=)Intellectual disability, autosomal recessive 42 [RCV005189450]likely benign2196872965196872965Human1name
597925049CV3863157single nucleotide variantNM_024989.4(PGAP1):c.1383G>A (p.Glu461=)Intellectual disability, autosomal recessive 42 [RCV005205645]likely benign2196875789196875789Human1name
598262278CV3999774single nucleotide variantNM_024989.4(PGAP1):c.212A>C (p.Glu71Ala)Inborn genetic diseases [RCV005387056]uncertain significance2196920086196920086Human1name
13216246CV427972single nucleotide variantNM_024989.4(PGAP1):c.1948T>C (p.Leu650=)not specified [RCV000503530]likely benign2196847951196847951Humanname
13216371CV427975single nucleotide variantNM_024989.4(PGAP1):c.1494T>C (p.Phe498=)Intellectual disability, autosomal recessive 42 [RCV003746530]|not provided [RCV003884581]|not specified [RCV000503518]likely benign2196873691196873691Human1name
13494197CV450174single nucleotide variantNM_024989.4(PGAP1):c.2007C>T (p.Ala669=)Hereditary spastic paraplegia [RCV001848972]|Intellectual disability, autosomal recessive 42 [RCV000558716]|not provided [RCV001619788]benign2196847146196847146Human2name
15146433CV690994single nucleotide variantNM_024989.4(PGAP1):c.2655A>G (p.Gln885=)Intellectual disability, autosomal recessive 42 [RCV002064917]likely benign2196841348196841348Human1name
15118466CV690996single nucleotide variantNM_024989.4(PGAP1):c.2604T>C (p.Asn868=)Hereditary spastic paraplegia [RCV001847093]|Intellectual disability, autosomal recessive 42 [RCV000873699]|PGAP1-related disorder [RCV003920426]|not provided [RCV002221593]benign|likely benign2196842747196842747Human2name , trait , alternate_id
15121404CV690997single nucleotide variantNM_024989.4(PGAP1):c.2313A>G (p.Thr771=)Intellectual disability, autosomal recessive 42 [RCV002539181]likely benign2196844548196844548Human1name
15142232CV690999single nucleotide variantNM_024989.4(PGAP1):c.2100G>A (p.Leu700=)Intellectual disability, autosomal recessive 42 [RCV000877826]|PGAP1-related disorder [RCV003930451]|not provided [RCV003432856]benign|likely benign2196847053196847053Human1name , trait , alternate_id
15131130CV691000single nucleotide variantNM_024989.4(PGAP1):c.1848T>C (p.Ser616=)Intellectual disability, autosomal recessive 42 [RCV000875932]benign2196865000196865000Human1name
15118545CV691001single nucleotide variantNM_024989.4(PGAP1):c.187G>A (p.Ala63Thr)Intellectual disability, autosomal recessive 42 [RCV000873711]likely benign2196920111196920111Human1name
15104853CV719504single nucleotide variantNM_024989.4(PGAP1):c.2421C>T (p.Asn807=)Intellectual disability, autosomal recessive 42 [RCV002065588]likely benign2196843992196843992Human1name
15128261CV762757single nucleotide variantNM_024989.4(PGAP1):c.1062G>A (p.Val354=)Intellectual disability, autosomal recessive 42 [RCV000941688]likely benign2196892373196892373Human1name
26900836CV825535single nucleotide variantNM_024989.4(PGAP1):c.1953G>A (p.Gly651=)Inborn genetic diseases [RCV004960373]|Intellectual disability, autosomal recessive 42 [RCV001054228]|not provided [RCV003222206]likely benign|uncertain significance2196847200196847200Human2name
26898024CV825536single nucleotide variantNM_024989.4(PGAP1):c.1089C>T (p.Asn363=)Intellectual disability, autosomal recessive 42 [RCV001035222]uncertain significance2196892346196892346Human1name
40887160CV973270deletionNM_024989.4(PGAP1):c.668del (p.Asn223fs)Inborn genetic diseases [RCV001266609]pathogenic2196902724196902724Human1name
126917728CV1040962single nucleotide variantNM_024989.4(PGAP1):c.442C>T (p.His148Tyr)Intellectual disability, autosomal recessive 42 [RCV001361333]uncertain significance2196916453196916453Human1name
151350676CV1324800single nucleotide variantNM_024989.4(PGAP1):c.843C>A (p.Asp281Glu)Intellectual disability, autosomal recessive 42 [RCV001809245]uncertain significance2196898334196898334Human1name
151756128CV1336163single nucleotide variantNM_024989.4(PGAP1):c.659C>G (p.Thr220Arg)Hereditary spastic paraplegia [RCV001848563]uncertain significance2196902733196902733Human1name
151802055CV1392480single nucleotide variantNM_024989.4(PGAP1):c.892G>A (p.Ala298Thr)Intellectual disability, autosomal recessive 42 [RCV001925227]uncertain significance2196897166196897166Human1name
156286157CV1884839single nucleotide variantNM_024989.4(PGAP1):c.583A>C (p.Asn195His)Intellectual disability, autosomal recessive 42 [RCV003061253]uncertain significance2196912948196912948Human1name
156319266CV1897704single nucleotide variantNM_024989.4(PGAP1):c.857T>C (p.Val286Ala)Intellectual disability, autosomal recessive 42 [RCV002579138]uncertain significance2196898320196898320Human1name
156418496CV1922239single nucleotide variantNM_024989.4(PGAP1):c.416G>A (p.Ser139Asn)Intellectual disability, autosomal recessive 42 [RCV002611693]uncertain significance2196916479196916479Human1name
156236297CV1952798single nucleotide variantNM_024989.4(PGAP1):c.334G>T (p.Ala112Ser)Intellectual disability, autosomal recessive 42 [RCV002576066]uncertain significance2196916561196916561Human1name
155908081CV2027757single nucleotide variantNM_024989.4(PGAP1):c.386A>G (p.Asn129Ser)Inborn genetic diseases [RCV003167674]|Intellectual disability, autosomal recessive 42 [RCV002726599]uncertain significance2196916509196916509Human2name
156324912CV2032374single nucleotide variantNM_024989.4(PGAP1):c.709A>C (p.Thr237Pro)Intellectual disability, autosomal recessive 42 [RCV002717348]uncertain significance2196902683196902683Human1name
155946903CV2035948single nucleotide variantNM_024989.4(PGAP1):c.749G>A (p.Arg250His)Intellectual disability, autosomal recessive 42 [RCV002775538]|not provided [RCV005250256]uncertain significance2196902643196902643Human1name
156100376CV2042161inversionNM_024989.4(PGAP1):c.16_17inv (p.Val6Thr)Intellectual disability, autosomal recessive 42 [RCV002761298]uncertain significance2196926600196926601Humanname
156116830CV2042804single nucleotide variantNM_024989.4(PGAP1):c.502G>A (p.Val168Met)Inborn genetic diseases [RCV004958757]|Intellectual disability, autosomal recessive 42 [RCV002800066]uncertain significance2196913029196913029Human2name
155989651CV2053188single nucleotide variantNM_024989.4(PGAP1):c.749G>C (p.Arg250Pro)Intellectual disability, autosomal recessive 42 [RCV002819146]uncertain significance2196902643196902643Human1name
156329497CV2065091single nucleotide variantNM_024989.4(PGAP1):c.525G>A (p.Met175Ile)Inborn genetic diseases [RCV005398992]|Intellectual disability, autosomal recessive 42 [RCV002835213]uncertain significance2196913006196913006Human2name
156013165CV2076317single nucleotide variantNM_024989.4(PGAP1):c.511A>G (p.Ile171Val)Intellectual disability, autosomal recessive 42 [RCV002866213]uncertain significance2196913020196913020Human1name
156087986CV2095250single nucleotide variantNM_024989.4(PGAP1):c.734G>A (p.Arg245Gln)Intellectual disability, autosomal recessive 42 [RCV002912933]uncertain significance2196902658196902658Human1name
155990959CV2095468single nucleotide variantNM_024989.4(PGAP1):c.790A>G (p.Ser264Gly)Intellectual disability, autosomal recessive 42 [RCV002908157]uncertain significance2196902602196902602Human1name
156233028CV2112578single nucleotide variantNM_024989.4(PGAP1):c.497A>G (p.Lys166Arg)Intellectual disability, autosomal recessive 42 [RCV002932908]uncertain significance2196913034196913034Human1name
155938828CV2229107single nucleotide variantNM_024989.4(PGAP1):c.781C>T (p.His261Tyr)Inborn genetic diseases [RCV002751649]uncertain significance2196902611196902611Human1name
156203280CV2256300single nucleotide variantNM_024989.4(PGAP1):c.425A>C (p.Lys142Thr)Inborn genetic diseases [RCV002803594]uncertain significance2196916470196916470Human1name
156034383CV2282891single nucleotide variantNM_024989.4(PGAP1):c.698T>G (p.Ile233Arg)Inborn genetic diseases [RCV002845623]uncertain significance2196902694196902694Human1name
156002637CV2288085single nucleotide variantNM_024989.4(PGAP1):c.881C>A (p.Thr294Asn)Inborn genetic diseases [RCV002865496]uncertain significance2196897177196897177Human1name
156269732CV2315041single nucleotide variantNM_024989.4(PGAP1):c.439G>A (p.Val147Ile)Inborn genetic diseases [RCV002934258]uncertain significance2196916456196916456Human1name
156003829CV2396816single nucleotide variantNM_024989.4(PGAP1):c.745G>A (p.Val249Ile)Inborn genetic diseases [RCV002734385]uncertain significance2196902647196902647Human1name
405143507CV2923845deletionNM_024989.4(PGAP1):c.1867del (p.Cys623fs)Intellectual disability, autosomal recessive 42 [RCV003584394]pathogenic2196848032196848032Human1name
405247493CV3050457single nucleotide variantNM_024989.4(PGAP1):c.908T>C (p.Ile303Thr)Intellectual disability, autosomal recessive 42 [RCV003746391]uncertain significance2196897150196897150Human1name
405701501CV3225995single nucleotide variantNM_024989.4(PGAP1):c.721G>C (p.Ala241Pro)Intellectual disability, autosomal recessive 42 [RCV003989437]uncertain significance2196902671196902671Human1name
405746745CV3368606single nucleotide variantNM_024989.4(PGAP1):c.322G>A (p.Ala108Thr)Inborn genetic diseases [RCV004498504]uncertain significance2196916573196916573Human1name
405746753CV3368607single nucleotide variantNM_024989.4(PGAP1):c.334G>C (p.Ala112Pro)Inborn genetic diseases [RCV004498505]uncertain significance2196916561196916561Human1name
405746759CV3368608single nucleotide variantNM_024989.4(PGAP1):c.344T>C (p.Ile115Thr)Inborn genetic diseases [RCV004498506]uncertain significance2196916551196916551Human1name
405746772CV3368610single nucleotide variantNM_024989.4(PGAP1):c.496A>G (p.Lys166Glu)Inborn genetic diseases [RCV004498508]uncertain significance2196913035196913035Human1name
405746778CV3368611single nucleotide variantNM_024989.4(PGAP1):c.518A>G (p.His173Arg)Inborn genetic diseases [RCV004498509]uncertain significance2196913013196913013Human1name
407528935CV3466864single nucleotide variantNM_024989.4(PGAP1):c.890G>A (p.Arg297Gln)Inborn genetic diseases [RCV004655785]uncertain significance2196897168196897168Human1name
597714067CV3575888single nucleotide variantNM_024989.4(PGAP1):c.304C>T (p.Arg102Cys)Inborn genetic diseases [RCV004959507]uncertain significance2196916591196916591Human1name
598262291CV3999779single nucleotide variantNM_024989.4(PGAP1):c.385A>G (p.Asn129Asp)Inborn genetic diseases [RCV005387060]uncertain significance2196916510196916510Human1name
13216336CV427979single nucleotide variantNM_024989.4(PGAP1):c.692G>A (p.Arg231Gln)Intellectual disability, autosomal recessive 42 [RCV001857152]|not specified [RCV000503638]uncertain significance2196902700196902700Human1name
13213612CV427980single nucleotide variantNM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)Hereditary spastic paraplegia [RCV001848874]|Intellectual disability, autosomal recessive 42 [RCV000705226]|not provided [RCV000997638]|not specified [RCV000500227]uncertain significance2196916564196916564Human2name
13486291CV443129single nucleotide variantNM_024989.4(PGAP1):c.691C>T (p.Arg231Ter)See cases [RCV002252152]|not provided [RCV000522861]pathogenic|likely pathogenic2196902701196902701Humanname
13495703CV450375single nucleotide variantNM_024989.4(PGAP1):c.427C>T (p.Gln143Ter)Intellectual disability, autosomal recessive 42 [RCV000537324]pathogenic2196916468196916468Human1name
13704819CV538959single nucleotide variantNM_024989.4(PGAP1):c.339G>C (p.Glu113Asp)Intellectual disability, autosomal recessive 42 [RCV000662047]uncertain significance2196916556196916556Human1name
14397122CV612585single nucleotide variantNM_024989.4(PGAP1):c.659C>T (p.Thr220Met)Inborn genetic diseases [RCV002533899]|Intellectual disability, autosomal recessive 42 [RCV001855952]|not provided [RCV000762308]likely benign|uncertain significance2196902733196902733Human2name
14708213CV629255single nucleotide variantNM_024989.4(PGAP1):c.911A>T (p.Asp304Val)Intellectual disability, autosomal recessive 42 [RCV000818444]|not provided [RCV003442112]uncertain significance2196897147196897147Human1name
15177171CV697227single nucleotide variantNM_024989.4(PGAP1):c.310A>G (p.Ile104Val)Intellectual disability, autosomal recessive 42 [RCV000950983]|PGAP1-related disorder [RCV003903216]|not provided [RCV004711446]likely benign2196916585196916585Human1name , trait , alternate_id
26903494CV825537single nucleotide variantNM_024989.4(PGAP1):c.695A>G (p.His232Arg)Intellectual disability, autosomal recessive 42 [RCV001069857]uncertain significance2196902697196902697Human1name
28889599CV903514single nucleotide variantNM_024989.4(PGAP1):c.776T>G (p.Leu259Ter)Intellectual disability, autosomal recessive 42 [RCV001169901]pathogenic2196902616196902616Human1name
40815461CV970731deletionNM_024989.4(PGAP1):c.2042del (p.Leu681fs)Inborn genetic diseases [RCV002537640]|Intellectual disability, autosomal recessive 42 [RCV001262862]pathogenic|likely pathogenic2196847111196847111Human2name
126748038CV988280single nucleotide variantNM_024989.4(PGAP1):c.479G>A (p.Gly160Asp)Inborn genetic diseases [RCV004960730]|Intellectual disability, autosomal recessive 42 [RCV001306357]uncertain significance2196913052196913052Human2name
126740215CV1015949single nucleotide variantNM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala)Intellectual disability, autosomal recessive 42 [RCV001329384]uncertain significance2196848017196848017Human1name
126733205CV1019523single nucleotide variantNM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro)Intellectual disability, autosomal recessive 42 [RCV001334246]uncertain significance2196847025196847025Human1name
126733202CV1019524single nucleotide variantNM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter)Intellectual disability, autosomal recessive 42 [RCV001334245]pathogenic|likely pathogenic2196872506196872506Human1name
126918288CV1040961single nucleotide variantNM_024989.4(PGAP1):c.2004T>A (p.Asp668Glu)Intellectual disability, autosomal recessive 42 [RCV001372570]uncertain significance2196847149196847149Human1name
127290408CV1153933single nucleotide variantNM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser)Hereditary spastic paraplegia [RCV001847289]|Inborn genetic diseases [RCV002564304]|Intellectual disability, autosomal recessive 42 [RCV001509828]benign|likely benign2196841269196841269Human3name
127316655CV1153934single nucleotide variantNM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)Hereditary spastic paraplegia [RCV001847294]|Inborn genetic diseases [RCV003284363]|Intellectual disability, autosomal recessive 42 [RCV001520621]|PGAP1-related disorder [RCV003931120]benign|likely benign|uncertain significance2196843946196843946Human3name , trait , alternate_id
151350674CV1324799single nucleotide variantNM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr)Hereditary spastic paraplegia [RCV001847334]|Inborn genetic diseases [RCV002542446]|Intellectual disability, autosomal recessive 42 [RCV001809244]uncertain significance2196875820196875820Human3name
151354096CV1327648single nucleotide variantNM_024989.4(PGAP1):c.2440C>T (p.Arg814Cys)Inborn genetic diseases [RCV005382184]|not specified [RCV001817592]uncertain significance2196843973196843973Human1name
151354644CV1327711single nucleotide variantNM_024989.4(PGAP1):c.1969G>A (p.Glu657Lys)not specified [RCV001819186]uncertain significance2196847184196847184Humanname
151756037CV1336151single nucleotide variantNM_024989.4(PGAP1):c.1723T>C (p.Tyr575His)Hereditary spastic paraplegia [RCV001848551]uncertain significance2196872446196872446Human1name
151756048CV1336153single nucleotide variantNM_024989.4(PGAP1):c.1892A>G (p.Asp631Gly)Hereditary spastic paraplegia [RCV001848553]uncertain significance2196848007196848007Human1name
151756057CV1336154single nucleotide variantNM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn)Hereditary spastic paraplegia [RCV001848554]|Inborn genetic diseases [RCV002543415]|Intellectual disability, autosomal recessive 42 [RCV002543414]uncertain significance2196845994196845994Human3name
151756083CV1336157single nucleotide variantNM_024989.4(PGAP1):c.2393C>T (p.Ser798Leu)Hereditary spastic paraplegia [RCV001848557]|Inborn genetic diseases [RCV005382191]uncertain significance2196844020196844020Human2name
151791662CV1408999single nucleotide variantNM_024989.4(PGAP1):c.2551C>T (p.Pro851Ser)Intellectual disability, autosomal recessive 42 [RCV001905435]uncertain significance2196842800196842800Human1name
151833610CV1413096single nucleotide variantNM_024989.4(PGAP1):c.2587A>G (p.Met863Val)Intellectual disability, autosomal recessive 42 [RCV001989875]uncertain significance2196842764196842764Human1name
151829932CV1419079single nucleotide variantNM_024989.4(PGAP1):c.2045T>C (p.Ile682Thr)Intellectual disability, autosomal recessive 42 [RCV001982244]uncertain significance2196847108196847108Human1name
151714656CV1458902single nucleotide variantNM_024989.4(PGAP1):c.1843T>A (p.Tyr615Asn)Inborn genetic diseases [RCV004046712]|Intellectual disability, autosomal recessive 42 [RCV002016708]|not provided [RCV003329430]uncertain significance2196865005196865005Human2name
151794702CV1489482single nucleotide variantNM_024989.4(PGAP1):c.2351C>G (p.Ser784Cys)Intellectual disability, autosomal recessive 42 [RCV001910822]uncertain significance2196844062196844062Human1name
151716536CV1498906single nucleotide variantNM_024989.4(PGAP1):c.2548G>T (p.Asp850Tyr)Intellectual disability, autosomal recessive 42 [RCV002023812]uncertain significance2196842803196842803Human1name
155643461CV1706739single nucleotide variantNM_024989.4(PGAP1):c.2438T>C (p.Leu813Pro)See cases [RCV002287814]uncertain significance2196843975196843975Humanname
155643471CV1706744single nucleotide variantNM_024989.4(PGAP1):c.2165C>T (p.Pro722Leu)See cases [RCV002287819]uncertain significance2196846003196846003Humanname
155732820CV1781052single nucleotide variantNM_024989.4(PGAP1):c.1999T>A (p.Leu667Ile)not provided [RCV002308840]uncertain significance2196847154196847154Humanname
155720769CV1781268single nucleotide variantNM_024989.4(PGAP1):c.1042A>G (p.Met348Val)Inborn genetic diseases [RCV004047726]|not provided [RCV002306344]uncertain significance2196892393196892393Human1name
155803665CV1858230single nucleotide variantNM_024989.4(PGAP1):c.1550A>G (p.Lys517Arg)not provided [RCV002462539]uncertain significance2196873530196873530Humanname
156009462CV1870716single nucleotide variantNM_024989.4(PGAP1):c.2136G>C (p.Trp712Cys)Intellectual disability, autosomal recessive 42 [RCV003077001]uncertain significance2196847017196847017Human1name
155979268CV1886312single nucleotide variantNM_024989.4(PGAP1):c.1078G>A (p.Val360Ile)Intellectual disability, autosomal recessive 42 [RCV003075570]uncertain significance2196892357196892357Human1name
156125912CV1889028single nucleotide variantNM_024989.4(PGAP1):c.2371T>C (p.Ser791Pro)Intellectual disability, autosomal recessive 42 [RCV003081634]uncertain significance2196844042196844042Human1name
156409963CV1891827single nucleotide variantNM_024989.4(PGAP1):c.2327G>A (p.Ser776Asn)Intellectual disability, autosomal recessive 42 [RCV003071880]uncertain significance2196844534196844534Human1name
156259933CV1906473single nucleotide variantNM_024989.4(PGAP1):c.2372C>T (p.Ser791Phe)Intellectual disability, autosomal recessive 42 [RCV003086403]uncertain significance2196844041196844041Human1name
156310981CV1913518single nucleotide variantNM_024989.4(PGAP1):c.1981G>C (p.Val661Leu)Intellectual disability, autosomal recessive 42 [RCV002599654]uncertain significance2196847172196847172Human1name
156046647CV1927132single nucleotide variantNM_024989.4(PGAP1):c.2107G>A (p.Ala703Thr)Inborn genetic diseases [RCV005399142]|Intellectual disability, autosomal recessive 42 [RCV002637785]likely benign|uncertain significance2196847046196847046Human2name
156214851CV1930962single nucleotide variantNM_024989.4(PGAP1):c.1208G>A (p.Ser403Asn)Intellectual disability, autosomal recessive 42 [RCV002644154]uncertain significance2196885846196885846Human1name
156449909CV1938419single nucleotide variantNM_024989.4(PGAP1):c.1496G>A (p.Gly499Glu)Intellectual disability, autosomal recessive 42 [RCV003122040]uncertain significance2196873689196873689Human1name
156437628CV1947635single nucleotide variantNM_024989.4(PGAP1):c.2614G>A (p.Val872Ile)Intellectual disability, autosomal recessive 42 [RCV003107168]uncertain significance2196842737196842737Human1name
156120487CV1969150single nucleotide variantNM_024989.4(PGAP1):c.2537A>T (p.Lys846Ile)Inborn genetic diseases [RCV002593109]|Intellectual disability, autosomal recessive 42 [RCV002593108]uncertain significance2196842814196842814Human2name
156117488CV1972895single nucleotide variantNM_024989.4(PGAP1):c.2141C>T (p.Ala714Val)Inborn genetic diseases [RCV004064607]|Intellectual disability, autosomal recessive 42 [RCV002593003]uncertain significance2196847012196847012Human2name
155974037CV1974933single nucleotide variantNM_024989.4(PGAP1):c.1382A>G (p.Glu461Gly)Intellectual disability, autosomal recessive 42 [RCV002617310]|not provided [RCV004725323]uncertain significance2196875790196875790Human1name
156399623CV1984980single nucleotide variantNM_024989.4(PGAP1):c.2332C>A (p.Pro778Thr)Intellectual disability, autosomal recessive 42 [RCV002605475]uncertain significance2196844529196844529Human1name
156166147CV1986336single nucleotide variantNM_024989.4(PGAP1):c.1706C>T (p.Thr569Met)Inborn genetic diseases [RCV005382446]|Intellectual disability, autosomal recessive 42 [RCV002642581]|Neurodevelopmental disorder [RCV003389082]uncertain significance2196872463196872463Human3name
156400048CV2013242single nucleotide variantNM_024989.4(PGAP1):c.2764A>G (p.Met922Val)Intellectual disability, autosomal recessive 42 [RCV002725918]uncertain significance2196841239196841239Human1name
155908337CV2027778single nucleotide variantNM_024989.4(PGAP1):c.1397A>G (p.Gln466Arg)Intellectual disability, autosomal recessive 42 [RCV002726616]uncertain significance2196875775196875775Human1name
156229415CV2043361single nucleotide variantNM_024989.4(PGAP1):c.1521C>G (p.Ile507Met)Intellectual disability, autosomal recessive 42 [RCV002805255]uncertain significance2196873559196873559Human1name
156194738CV2099151single nucleotide variantNM_024989.4(PGAP1):c.1621G>A (p.Ala541Thr)Intellectual disability, autosomal recessive 42 [RCV002917571]likely benign2196872548196872548Human1name
155936211CV2114182single nucleotide variantNM_024989.4(PGAP1):c.2072C>T (p.Thr691Met)Intellectual disability, autosomal recessive 42 [RCV002904154]uncertain significance2196847081196847081Human1name
156389794CV2122346single nucleotide variantNM_024989.4(PGAP1):c.1085A>T (p.Tyr362Phe)Intellectual disability, autosomal recessive 42 [RCV002943777]uncertain significance2196892350196892350Human1name
155992227CV2125900single nucleotide variantNM_024989.4(PGAP1):c.1346G>A (p.Ser449Asn)Intellectual disability, autosomal recessive 42 [RCV002974784]uncertain significance2196880080196880080Human1name
156304205CV2129663single nucleotide variantNM_024989.4(PGAP1):c.2018C>T (p.Thr673Ile)Intellectual disability, autosomal recessive 42 [RCV002962283]uncertain significance2196847135196847135Human1name
155986789CV2136988single nucleotide variantNM_024989.4(PGAP1):c.2314A>G (p.Thr772Ala)Inborn genetic diseases [RCV002996371]|Intellectual disability, autosomal recessive 42 [RCV002996370]uncertain significance2196844547196844547Human2name
155956272CV2162687single nucleotide variantNM_024989.4(PGAP1):c.2441G>A (p.Arg814His)Inborn genetic diseases [RCV004960911]|Intellectual disability, autosomal recessive 42 [RCV003015117]|not provided [RCV003542376]uncertain significance2196843972196843972Human2name
156035080CV2182446single nucleotide variantNM_024989.4(PGAP1):c.1036A>T (p.Thr346Ser)Intellectual disability, autosomal recessive 42 [RCV003036344]uncertain significance2196892399196892399Human1name
156113604CV2212724single nucleotide variantNM_024989.4(PGAP1):c.1948T>A (p.Leu650Met)Inborn genetic diseases [RCV002707368]uncertain significance2196847951196847951Human1name
11040434CV224698single nucleotide variantNM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter)Intellectual disability, autosomal recessive 42 [RCV000208580]pathogenic2196873007196873007Human1name
11040430CV224699single nucleotide variantNM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter)Intellectual disability, autosomal recessive 42 [RCV000208575]|not provided [RCV003128596]pathogenic|likely pathogenic2196875776196875776Human1name
156304643CV2252523single nucleotide variantNM_024989.4(PGAP1):c.1844A>G (p.Tyr615Cys)Inborn genetic diseases [RCV002808417]uncertain significance2196865004196865004Human1name
156100432CV2260254single nucleotide variantNM_024989.4(PGAP1):c.1958A>C (p.Lys653Thr)Inborn genetic diseases [RCV002799089]uncertain significance2196847195196847195Human1name
156006634CV2299592single nucleotide variantNM_024989.4(PGAP1):c.2513T>C (p.Leu838Pro)Inborn genetic diseases [RCV002883726]uncertain significance2196843900196843900Human1name
156191508CV2301813single nucleotide variantNM_024989.4(PGAP1):c.1877A>G (p.Tyr626Cys)Inborn genetic diseases [RCV002892567]uncertain significance2196848022196848022Human1name
156156513CV2393495single nucleotide variantNM_024989.4(PGAP1):c.2008G>A (p.Val670Ile)Inborn genetic diseases [RCV002709982]likely benign2196847145196847145Human1name
243059330CV2405985single nucleotide variantNM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)Intellectual disability, autosomal recessive 42 [RCV003134811]uncertain significance2196843991196843991Human1name
329374063CV2434685single nucleotide variantNM_024989.4(PGAP1):c.2407C>T (p.Arg803Cys)Inborn genetic diseases [RCV003173310]|Intellectual disability, autosomal recessive 42 [RCV005101208]uncertain significance2196844006196844006Human2name
329355398CV2445411single nucleotide variantNM_024989.4(PGAP1):c.1793T>C (p.Leu598Pro)Inborn genetic diseases [RCV003202832]uncertain significance2196865055196865055Human1name
329352335CV2452883single nucleotide variantNM_024989.4(PGAP1):c.1264A>G (p.Thr422Ala)Inborn genetic diseases [RCV003200441]uncertain significance2196885432196885432Human1name
329363706CV2471540single nucleotide variantNM_024989.4(PGAP1):c.1950G>C (p.Leu650Phe)Inborn genetic diseases [RCV003206391]uncertain significance2196847949196847949Human1name
401744934CV2698430single nucleotide variantNM_024989.4(PGAP1):c.2039C>G (p.Pro680Arg)Inborn genetic diseases [RCV003275395]uncertain significance2196847114196847114Human1name
401739857CV2709699single nucleotide variantNM_024989.4(PGAP1):c.1339C>T (p.Arg447Cys)Inborn genetic diseases [RCV003292206]uncertain significance2196880087196880087Human1name
401741725CV2710141single nucleotide variantNM_024989.4(PGAP1):c.2443A>G (p.Met815Val)Inborn genetic diseases [RCV003292665]uncertain significance2196843970196843970Human1name
401774267CV2727787single nucleotide variantNM_024989.4(PGAP1):c.2005G>A (p.Ala669Thr)Inborn genetic diseases [RCV003305234]uncertain significance2196847148196847148Human1name
401828778CV2743113single nucleotide variantNM_024989.4(PGAP1):c.2051T>A (p.Leu684Ter)not provided [RCV003325822]likely pathogenic2196847102196847102Humanname
401855674CV2753092single nucleotide variantNM_024989.4(PGAP1):c.2743C>T (p.Leu915Phe)Intellectual disability, autosomal recessive 42 [RCV003338148]uncertain significance2196841260196841260Human1name
401872949CV2761311single nucleotide variantNM_024989.4(PGAP1):c.1340G>A (p.Arg447His)Inborn genetic diseases [RCV003346933]likely benign2196880086196880086Human1name
401915208CV2830997single nucleotide variantNM_024989.4(PGAP1):c.2591C>T (p.Ala864Val)Inborn genetic diseases [RCV004654219]|not provided [RCV003442738]uncertain significance2196842760196842760Human1name
401940397CV2839249single nucleotide variantNM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)Intellectual disability, autosomal recessive 42 [RCV003448808]likely pathogenic2196844020196844020Human1name
405173302CV2853442single nucleotide variantNM_024989.4(PGAP1):c.2209A>G (p.Ile737Val)not provided [RCV003542505]uncertain significance2196845959196845959Humanname
405148678CV2864823single nucleotide variantNM_024989.4(PGAP1):c.2385A>C (p.Lys795Asn)Intellectual disability, autosomal recessive 42 [RCV003585452]uncertain significance2196844028196844028Human1name
405746722CV3368603single nucleotide variantNM_024989.4(PGAP1):c.1087A>G (p.Asn363Asp)Inborn genetic diseases [RCV004498501]|not provided [RCV004790677]uncertain significance2196892348196892348Human1name
405746730CV3368604single nucleotide variantNM_024989.4(PGAP1):c.1111A>C (p.Thr371Pro)Inborn genetic diseases [RCV004498502]uncertain significance2196890890196890890Human1name
405746736CV3368605single nucleotide variantNM_024989.4(PGAP1):c.1816A>G (p.Ile606Val)Inborn genetic diseases [RCV004498503]uncertain significance2196865032196865032Human1name
407464246CV3466863single nucleotide variantNM_024989.4(PGAP1):c.2530T>A (p.Tyr844Asn)Inborn genetic diseases [RCV004659902]uncertain significance2196842821196842821Human1name
407528937CV3466865single nucleotide variantNM_024989.4(PGAP1):c.1225C>A (p.Gln409Lys)Inborn genetic diseases [RCV004655786]uncertain significance2196885471196885471Human1name
407528940CV3466867single nucleotide variantNM_024989.4(PGAP1):c.1061T>C (p.Val354Ala)Inborn genetic diseases [RCV004655788]uncertain significance2196892374196892374Human1name
408387186CV3518738single nucleotide variantNM_024989.4(PGAP1):c.2582C>T (p.Pro861Leu)not provided [RCV004761057]uncertain significance2196842769196842769Humanname
596922846CV3530128single nucleotide variantNM_024989.4(PGAP1):c.1526T>G (p.Val509Gly)not provided [RCV004776727]uncertain significance2196873554196873554Humanname
596923110CV3537560single nucleotide variantNM_024989.4(PGAP1):c.1610C>A (p.Thr537Asn)not provided [RCV004787530]uncertain significance2196872969196872969Humanname
597714089CV3575884single nucleotide variantNM_024989.4(PGAP1):c.1487T>C (p.Leu496Pro)Inborn genetic diseases [RCV004959504]uncertain significance2196873698196873698Human1name
597714082CV3575885single nucleotide variantNM_024989.4(PGAP1):c.1844A>C (p.Tyr615Ser)Inborn genetic diseases [RCV004959505]uncertain significance2196865004196865004Human1name
597714061CV3575889single nucleotide variantNM_024989.4(PGAP1):c.1372T>C (p.Phe458Leu)Inborn genetic diseases [RCV004959508]uncertain significance2196875800196875800Human1name
12743086CV361509single nucleotide variantNM_024989.4(PGAP1):c.1220G>A (p.Cys407Tyr)not provided [RCV000415991]uncertain significance2196885834196885834Humanname
597939766CV3788623single nucleotide variantNM_024989.4(PGAP1):c.1927G>A (p.Val643Ile)Intellectual disability, autosomal recessive 42 [RCV005133298]uncertain significance2196847972196847972Human1name
597901112CV3835407single nucleotide variantNM_024989.4(PGAP1):c.2387A>G (p.Asp796Gly)Intellectual disability, autosomal recessive 42 [RCV005181130]uncertain significance2196844026196844026Human1name
598126811CV3882269single nucleotide variantNM_024989.4(PGAP1):c.1604C>A (p.Ser535Ter)not provided [RCV005233820]pathogenic2196872975196872975Humanname
598262285CV3999776single nucleotide variantNM_024989.4(PGAP1):c.2258T>G (p.Leu753Arg)Inborn genetic diseases [RCV005387058]uncertain significance2196845910196845910Human1name
598262289CV3999777single nucleotide variantNM_024989.4(PGAP1):c.1519A>G (p.Ile507Val)Inborn genetic diseases [RCV005387059]uncertain significance2196873561196873561Human1name
598262299CV3999781single nucleotide variantNM_024989.4(PGAP1):c.2180T>C (p.Met727Thr)Inborn genetic diseases [RCV005387062]uncertain significance2196845988196845988Human1name
598262302CV3999782single nucleotide variantNM_024989.4(PGAP1):c.1717T>C (p.Cys573Arg)Inborn genetic diseases [RCV005387063]uncertain significance2196872452196872452Human1name
13214933CV427970single nucleotide variantNM_024989.4(PGAP1):c.2408G>A (p.Arg803His)Intellectual disability, autosomal recessive 42 [RCV002527280]|not specified [RCV000501790]uncertain significance2196844005196844005Human1name
13215045CV427971single nucleotide variantNM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter)Intellectual disability, autosomal recessive 42 [RCV000502026]likely pathogenic2196845964196845964Human1name
13212998CV427973single nucleotide variantNM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)Hereditary spastic paraplegia [RCV001848872]|Intellectual disability, autosomal recessive 42 [RCV000986967]|not provided [RCV000514378]|not specified [RCV000499483]benign|likely benign2196870955196870955Human2name
13214818CV427974single nucleotide variantNM_024989.4(PGAP1):c.1691T>C (p.Leu564Ser)Intellectual disability, autosomal recessive 42 [RCV000877763]|not specified [RCV000501742]likely benign|uncertain significance2196872478196872478Human1name
13213631CV427976single nucleotide variantNM_024989.4(PGAP1):c.1447G>C (p.Val483Leu)Intellectual disability, autosomal recessive 42 [RCV002524267]|not specified [RCV000500103]uncertain significance2196873738196873738Human1name
13496445CV450349single nucleotide variantNM_024989.4(PGAP1):c.1876T>C (p.Tyr626His)Hereditary spastic paraplegia [RCV001848971]|Intellectual disability, autosomal recessive 42 [RCV000560352]likely benign|uncertain significance2196848023196848023Human2name
13491293CV450371single nucleotide variantNM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)Intellectual disability, autosomal recessive 42 [RCV000534110]|Intellectual disability, autosomal recessive 58 [RCV003483668]uncertain significance|not provided2196873021196873021Human2name
13509271CV481636single nucleotide variantNM_024989.4(PGAP1):c.1245G>A (p.Trp415Ter)not provided [RCV000579239]likely pathogenic2196885451196885451Humanname
13624405CV517481single nucleotide variantNM_024989.4(PGAP1):c.2643G>C (p.Lys881Asn)Intellectual disability, autosomal recessive 42 [RCV000652177]uncertain significance2196841360196841360Human1name
13624403CV517599single nucleotide variantNM_024989.4(PGAP1):c.1721G>A (p.Arg574Gln)Inborn genetic diseases [RCV002530546]|Intellectual disability, autosomal recessive 42 [RCV000652179]|not specified [RCV005407845]likely benign|uncertain significance2196872448196872448Human2name
13624404CV517766single nucleotide variantNM_024989.4(PGAP1):c.1475A>G (p.Asn492Ser)Intellectual disability, autosomal recessive 42 [RCV000652178]uncertain significance2196873710196873710Human1name
13813737CV557804single nucleotide variantNM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser)Intellectual disability, autosomal recessive 42 [RCV000704589]uncertain significance2196841313196841313Human1name
14707719CV629252single nucleotide variantNM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)Inborn genetic diseases [RCV002537112]|Intellectual disability, autosomal recessive 42 [RCV000799682]|not provided [RCV003324795]|not specified [RCV001816857]conflicting interpretations of pathogenicity|uncertain significance2196844038196844038Human2name
14708172CV629253single nucleotide variantNM_024989.4(PGAP1):c.2276A>G (p.Tyr759Cys)Intellectual disability, autosomal recessive 42 [RCV000817132]uncertain significance2196845892196845892Human1name
14707589CV629254single nucleotide variantNM_024989.4(PGAP1):c.1274A>G (p.Tyr425Cys)Intellectual disability, autosomal recessive 42 [RCV000794833]uncertain significance2196880152196880152Human1name
14978482CV677412single nucleotide variantNM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg)Intellectual disability, autosomal recessive 42 [RCV000850581]uncertain significance2196892366196892366Human1name
15148100CV690995single nucleotide variantNM_024989.4(PGAP1):c.2647A>G (p.Thr883Ala)Hereditary spastic paraplegia [RCV001847106]|Intellectual disability, autosomal recessive 42 [RCV000878895]likely benign2196841356196841356Human2name
15127299CV690998single nucleotide variantNM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)Intellectual disability, autosomal recessive 42 [RCV000986965]|not provided [RCV005051839]likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance2196844574196844574Human1name
21070992CV790145single nucleotide variantNM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)Intellectual disability, autosomal recessive 42 [RCV000986966]pathogenic|likely pathogenic2196845894196845894Human1name
21070994CV790146single nucleotide variantNM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter)Intellectual disability, autosomal recessive 42 [RCV000986968]likely pathogenic2196892369196892369Human1name
21067967CV795108single nucleotide variantNM_024989.4(PGAP1):c.2197C>T (p.Pro733Ser)Intellectual disability, autosomal recessive 42 [RCV001858859]|not provided [RCV000997637]uncertain significance2196845971196845971Human1name
25317400CV805281single nucleotide variantNM_024989.4(PGAP1):c.1969G>T (p.Glu657Ter)not provided [RCV001008009]likely pathogenic2196847184196847184Humanname
41407542CV980223single nucleotide variantNM_024989.4(PGAP1):c.1155T>G (p.Tyr385Ter)not provided [RCV001280736]likely pathogenic2196890846196890846Humanname
126759259CV988278single nucleotide variantNM_024989.4(PGAP1):c.2642A>G (p.Lys881Arg)Intellectual disability, autosomal recessive 42 [RCV001308964]uncertain significance2196841361196841361Human1name
126753132CV988279single nucleotide variantNM_024989.4(PGAP1):c.1447G>A (p.Val483Met)Intellectual disability, autosomal recessive 42 [RCV001297849]uncertain significance2196873738196873738Human1name
8658661CV136319microsatelliteNM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)Intellectual disability, autosomal recessive 42 [RCV000118980]pathogenic|likely pathogenic2196912940196912942Humanname
11040433CV224700deletionNM_024989.4(PGAP1):c.274_276del (p.Pro92del)Cerebral visual impairment and intellectual disability [RCV000210383]|Intellectual disability, autosomal recessive 42 [RCV000208579]pathogenic2196920022196920024Human2name
11040436CV224701deletionNM_024989.4(PGAP1):c.921_925del (p.Lys308fs)Cerebral visual impairment and intellectual disability [RCV000210406]|Intellectual disability, autosomal recessive 42 [RCV000208582]pathogenic2196897133196897137Human2name
152154213CV1667857insertionNM_024989.4(PGAP1):c.1552+133_1552+134insAGAAnot provided [RCV002221749]likely benign2196873394196873395Humanname
329848294CV2667913microsatelliteNM_024989.4(PGAP1):c.1318GTT[1] (p.Val441del)not provided [RCV003229480]likely pathogenic2196880103196880105Humanname
152034957CV1670066microsatelliteNM_024989.4(PGAP1):c.1162_1163del (p.Ser388fs)not provided [RCV002223600]likely pathogenic2196890838196890839Humanname
405854708CV3394815deletionNM_024989.4(PGAP1):c.1546_1549del (p.Val516fs)Intellectual disability, autosomal recessive 42 [RCV004551155]pathogenic2196873531196873534Human1name
407451351CV3495291deletionNM_024989.4(PGAP1):c.2607_2610del (p.Tyr870fs)Intellectual disability, autosomal recessive 42 [RCV004689566]pathogenic2196842741196842744Humanname
13469512CV450176microsatelliteNM_024989.4(PGAP1):c.1394_1397del (p.Ile465fs)Intellectual disability, autosomal recessive 42 [RCV000545388]|not provided [RCV001571811]pathogenic2196875775196875778Humanname
38479744CV922502duplicationNM_024989.4(PGAP1):c.2607_2610dup (p.Thr871fs)Intellectual disability, autosomal recessive 42 [RCV001217222]uncertain significance2196842740196842741Human1name
13520653CV495391insertionNM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)Inborn genetic diseases [RCV003160066]|Intellectual disability, autosomal recessive 42 [RCV000850580]|not provided [RCV000598809]pathogenic|likely pathogenic2196844055196844056Human2name
329356295CV2442574deletionNM_024989.4(PGAP1):c.2199del (p.Phe734_Leu735insTer)Inborn genetic diseases [RCV003203206]pathogenic2196845969196845969Human1name