Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_032436.4(CHAMP1):c.170A>G (p.Lys57Arg) | 283489 | CHAMP1 | Uncertain significance | 782162864 | RCV001196093; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115089487 | 115089487 | | | 13:g.115089487A>G | - | | |
NM_032436.4(CHAMP1):c.475C>T (p.Pro159Ser) | 283489 | CHAMP1 | Uncertain significance | 2087209947 | RCV001331751; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115089792 | 115089792 | | | 115089792 | - | | |
NM_032436.4(CHAMP1):c.491C>T (p.Ser164Phe) | 283489 | CHAMP1 | Uncertain significance | 2139418657 | RCV001839290; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115089808 | 115089808 | | | 115089808 | - | | |
NM_032436.4(CHAMP1):c.530_532delinsTTT (p.Ser177_Lys178delinsPheTer) | 283489 | CHAMP1 | Pathogenic | 2139418772 | RCV001353218; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115089847 | 115089849 | | | 115089847 | - | | |
NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs) | 283489 | CHAMP1 | Pathogenic | 863225077 | RCV000202137|RCV001265231|RCV001788067; | N | MedGen:CN517202||MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115089857 | 115089858 | | | NC_000013.10:g.115089857CT[1] | ClinGen:CA325482 | | |
NM_032436.4(CHAMP1):c.575_576del (p.Pro192fs) | 283489 | CHAMP1 | Likely pathogenic | -1 | RCV002290107; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115089892 | 115089893 | | | 115089891 | - | | |
NM_032436.4(CHAMP1):c.613C>T (p.Pro205Ser) | 283489 | CHAMP1 | Uncertain significance | 782278722 | RCV002276506; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115089930 | 115089930 | | | 115089930 | - | | |
NM_032436.4(CHAMP1):c.628C>T (p.Pro210Ser) | 283489 | CHAMP1 | Uncertain significance | -1 | RCV003144839; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115089945 | 115089945 | | | NC_000013.10:g.115089945C>T | - | | |
NM_032436.4(CHAMP1):c.635del (p.Pro212fs) | 283489 | CHAMP1 | Pathogenic | 797044961 | RCV000190451|RCV000192003; | N | MedGen:CN232368|MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115089949 | 115089949 | | | NC_000013.10:g.115089952del | ClinGen:CA204442,OMIM:616327.0006 | CN232368 intellectual disability with severe speech impairment; | |
NM_032436.4(CHAMP1):c.647_649dup (p.Ser217Ter) | 283489 | CHAMP1 | Pathogenic | 2139419099 | RCV001375979; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115089963 | 115089964 | | | 115089963 | - | | |
NM_032436.4(CHAMP1):c.661dup (p.Thr221fs) | 283489 | CHAMP1 | Likely pathogenic | 1594129609 | RCV001027665|RCV001265372; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579| | 13 | 115089977 | 115089978 | | | 13:g.115089977_115089978insA | - | | |
NM_032436.4(CHAMP1):c.712G>A (p.Gly238Arg) | 283489 | CHAMP1 | Uncertain significance | -1 | RCV003144841|RCV003164854; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579|MeSH:D030342,MedGen:C0950123 | 13 | 115090029 | 115090029 | | | NC_000013.10:g.115090029G>A | - | | |
NM_032436.4(CHAMP1):c.824_828del (p.Thr274_Ser275insTer) | 283489 | CHAMP1 | Likely pathogenic | 2139419505 | RCV002251164; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090138 | 115090142 | | | 115090137 | - | | |
NM_032436.4(CHAMP1):c.923C>T (p.Ser308Leu) | 283489 | CHAMP1 | Uncertain significance | 1555379590 | RCV001333846; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090240 | 115090240 | | | 115090240 | - | | |
NM_032436.4(CHAMP1):c.926C>T (p.Pro309Leu) | 283489 | CHAMP1 | Benign/Likely benign | 142271038 | RCV000889850|RCV002501457|RCV002539386; | N | MedGen:CN517202|MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579|MeSH:D030342,MedGen:C0950123 | 13 | 115090243 | 115090243 | | | 13:g.115090243C>T | - | | |
NM_032436.4(CHAMP1):c.951T>C (p.Pro317=) | 283489 | CHAMP1 | Benign | 144765511 | RCV000888013|RCV002487943; | N | MedGen:C3661900|MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090268 | 115090268 | | | 13:g.115090268T>C | - | | |
NM_032436.4(CHAMP1):c.959dup (p.Pro320_Arg321insTer) | 283489 | CHAMP1 | Pathogenic | 2139419839 | RCV001729905; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090272 | 115090273 | | | 115090272 | - | | |
NM_032436.4(CHAMP1):c.998C>A (p.Pro333His) | 283489 | CHAMP1 | Uncertain significance | -1 | RCV003144838; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090315 | 115090315 | | | NC_000013.10:g.115090315C>A | - | | |
NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter) | 283489 | CHAMP1 | Pathogenic | 879255261 | RCV000191998|RCV001265375; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579| | 13 | 115090319 | 115090319 | | | 13:g.115090319G>A | ClinGen:CA10575785,OMIM:616327.0001 | C4225275 616579 Mental retardation, autosomal dominant 40; | |
NM_032436.4(CHAMP1):c.1007C>A (p.Pro336Gln) | 283489 | CHAMP1 | Uncertain significance | -1 | RCV003144837; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090324 | 115090324 | | | NC_000013.10:g.115090324C>A | - | | |
NM_032436.4(CHAMP1):c.1034C>T (p.Pro345Leu) | 283489 | CHAMP1 | Uncertain significance | -1 | RCV003144836; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090351 | 115090351 | | | NC_000013.10:g.115090351C>T | - | | |
NM_032436.4(CHAMP1):c.1043G>A (p.Trp348Ter) | 283489 | CHAMP1 | Pathogenic | 2139420056 | RCV002248354; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090360 | 115090360 | | | 115090360 | OMIM:616327.0007 | | |
NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser) | 283489 | CHAMP1 | Uncertain significance | 1430511251 | RCV000723339; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090467 | 115090467 | | | NC_000013.10:g.115090467C>T | - | | |
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter) | 283489 | CHAMP1 | Pathogenic | 797044962 | RCV000190452|RCV000192002|RCV000623031|RCV002460963; | N | MedGen:CN232368|MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 13 | 115090509 | 115090509 | | | 13:g.115090509C>T | ClinGen:CA204443,OMIM:616327.0005 | C0950123 Inborn genetic diseases; | |
NM_032436.4(CHAMP1):c.1295G>A (p.Ser432Asn) | 283489 | CHAMP1 | Uncertain significance | -1 | RCV003144840; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090612 | 115090612 | | | NC_000013.10:g.115090612G>A | - | | |
NM_032436.4(CHAMP1):c.1339G>T (p.Asp447Tyr) | 283489 | CHAMP1 | Uncertain significance | 1555379738 | RCV001196566; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090656 | 115090656 | | | 13:g.115090656G>T | - | | |
NM_032436.4(CHAMP1):c.1351C>T (p.Leu451Phe) | 283489 | CHAMP1 | Uncertain significance | 2087229717 | RCV001333845; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090668 | 115090668 | | | 115090668 | - | | |
NM_032436.4(CHAMP1):c.1429C>T (p.Pro477Ser) | 283489 | CHAMP1 | Uncertain significance | -1 | RCV003144833; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090746 | 115090746 | | | NC_000013.10:g.115090746C>T | - | | |
NM_032436.4(CHAMP1):c.1440G>A (p.Trp480Ter) | 283489 | CHAMP1 | Likely pathogenic | -1 | RCV003314277; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115090757 | 115090757 | | | | - | | |
NM_032436.4(CHAMP1):c.1692dup (p.Lys565fs) | 283489 | CHAMP1 | Pathogenic | 2139421634 | RCV001780493; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091005 | 115091006 | | | 115091005 | - | | |
NM_032436.4(CHAMP1):c.1741del (p.Glu581fs) | 283489 | CHAMP1 | Pathogenic | 2139421763 | RCV001823054; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091058 | 115091058 | | | 115091057 | - | | |
NM_032436.4(CHAMP1):c.1767T>G (p.Asp589Glu) | 283489 | CHAMP1 | Uncertain significance | -1 | RCV003144842; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091084 | 115091084 | | | NC_000013.10:g.115091084T>G | - | | |
NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter) | 283489 | CHAMP1 | Pathogenic | 200070245 | RCV000190453|RCV000192001; | N | MedGen:CN232368|MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091085 | 115091085 | | | 13:g.115091085C>T | ClinGen:CA204445,OMIM:616327.0004 | CN232368 intellectual disability with severe speech impairment; | |
NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs) | 283489 | CHAMP1 | Pathogenic | 797044963 | RCV000190454|RCV000192000; | N | MedGen:CN232368|MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091182 | 115091183 | | | 13:g.115091182_115091183del | ClinGen:CA204447,OMIM:616327.0003 | CN232368 intellectual disability with severe speech impairment; | |
NM_032436.4(CHAMP1):c.1876_1877del (p.Ser626fs) | 283489 | CHAMP1 | Pathogenic | 2139422092 | RCV002248355; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091189 | 115091190 | | | 115091188 | OMIM:616327.0008 | | |
NM_032436.4(CHAMP1):c.1995dup (p.Ser666Ter) | 283489 | CHAMP1 | Pathogenic | 2139422391 | RCV001788507; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091308 | 115091309 | | | 115091308 | - | | |
NM_032436.4(CHAMP1):c.2004_2005del (p.Asn669fs) | 283489 | CHAMP1 | Likely pathogenic | -1 | RCV003152899; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091318 | 115091319 | | | | - | | |
NM_032436.4(CHAMP1):c.2068_2069del (p.Glu690fs) | 283489 | CHAMP1 | Pathogenic | -1 | RCV003149123; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091384 | 115091385 | | | | - | | |
NM_032436.4(CHAMP1):c.2085A>G (p.Glu695=) | 283489 | CHAMP1 | Uncertain significance | -1 | RCV003144835; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091402 | 115091402 | | | | - | | |
NM_032436.4(CHAMP1):c.2094del (p.Ile698fs) | 283489 | CHAMP1 | not provided | -1 | RCV003458277; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579 | 13 | 115091410 | 115091410 | | | | - | | |
NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter) | -1 | CHAMP1;LINC01054 | Pathogenic | 782397980 | RCV000191999|RCV000599119|RCV000623192|RCV001265442; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579|MedGen:CN517202|MeSH:D030342,MedGen:C0950123| | 13 | 115090806 | 115090806 | | | NC_000013.10:g.115090806C>T | ClinGen:CA205031,OMIM:616327.0002 | C0950123 Inborn genetic diseases; | |
NM_182931.3(KMT2E):c.658G>A (p.Val220Ile) | 55904 | KMT2E | Conflicting interpretations of pathogenicity | -1 | RCV002466937|RCV002569354; | N | MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579|MedGen:CN517202 | 7 | 104715191 | 104715191 | | | NC_000007.13:g.104715191G>A | - | | |
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu) | 7204 | TRIO | Conflicting interpretations of pathogenicity | 377248579 | RCV000732388|RCV002466576|RCV002535270|RCV003424318; | N | MedGen:C3661900|MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579|MeSH:D030342,MedGen:C0950123| | 5 | 14508061 | 14508061 | | | NC_000005.9:g.14508061C>G | - | | |