Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_144709.4(PUS10):c.-16+260C>T | 5194 | PEX13 | Uncertain significance | 886056195 | RCV000353832; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244883 | 61244883 | | | NC_000002.11:g.61244883G>A | ClinGen:CA10615621 | C0043459 214100 Zellweger syndrome; | |
NM_144709.4(PUS10):c.-16+255C>T | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 200847026 | RCV000730222|RCV001140448; | N | MedGen:CN169374|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244888 | 61244888 | | | NC_000002.11:g.61244888G>A | - | | |
NM_144709.4(PUS10):c.-16+254C>G | 5194 | PEX13 | Likely benign | 147461642 | RCV000173283|RCV000261713|RCV001657942; | N | MedGen:CN169374|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MedGen:C3661900 | 2 | 61244889 | 61244889 | | | 2:g.61244889G>C | ClinGen:CA200426 | CN169374 not specified; | |
NM_002618.4(PEX13):c.1A>G (p.Met1Val) | 5194 | PEX13 | Uncertain significance | 1201215154 | RCV001904838; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244895 | 61244895 | | | 61244895 | - | | |
NC_000002.11:g.(?_61244895)_(61275905_?)dup | 5194 | PEX13 | Uncertain significance | -1 | RCV001932629; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244895 | 61275905 | | | -1 | - | | |
NM_002618.4(PEX13):c.6G>T (p.Ala2=) | 5194 | PEX13 | Likely benign | -1 | RCV003027099; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244900 | 61244900 | | | | - | | |
NM_002618.4(PEX13):c.8C>G (p.Ser3Cys) | 5194 | PEX13 | Uncertain significance | 950397917 | RCV001910241; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244902 | 61244902 | | | 61244902 | - | | |
NM_002618.4(PEX13):c.9C>T (p.Ser3=) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 745465894 | RCV000732567|RCV002061011; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244903 | 61244903 | | | NC_000002.11:g.61244903C>T | - | | |
NM_002618.4(PEX13):c.9C>G (p.Ser3=) | 5194 | PEX13 | Likely benign | 745465894 | RCV002206005; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244903 | 61244903 | | | 61244903 | - | | |
NM_002618.4(PEX13):c.11A>C (p.Gln4Pro) | 5194 | PEX13 | Uncertain significance | 1171979724 | RCV002035698|RCV003170510; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61244905 | 61244905 | | | 61244905 | - | | |
NM_002618.4(PEX13):c.12G>A (p.Gln4=) | 5194 | PEX13 | Likely benign | -1 | RCV003029998; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244906 | 61244906 | | | | - | | |
NM_002618.4(PEX13):c.14C>T (p.Pro5Leu) | 5194 | PEX13 | Uncertain significance | 898062680 | RCV001069467|RCV002554578; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61244908 | 61244908 | | | 2:g.61244908C>T | - | | |
NM_002618.4(PEX13):c.18A>G (p.Pro6=) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 769300208 | RCV000730443|RCV001482425; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244912 | 61244912 | | | NC_000002.11:g.61244912A>G | - | | |
NM_002618.4(PEX13):c.23C>T (p.Pro8Leu) | 5194 | PEX13 | Uncertain significance | -1 | RCV002635347; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244917 | 61244917 | | | NC_000002.11:g.61244917C>T | - | | |
NM_002618.4(PEX13):c.24C>A (p.Pro8=) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 774943691 | RCV000594390|RCV001406941; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244918 | 61244918 | | | 2:g.61244918C>A | ClinGen:CA1673187 | CN169374 not specified; | |
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg) | 5194 | PEX13 | Uncertain significance | 764069625 | RCV000295750|RCV001140449|RCV003362747; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61244920 | 61244920 | | | 2:g.61244920C>G | ClinGen:CA10606564 | CN169374 not specified; | |
NM_002618.4(PEX13):c.26C>A (p.Pro9His) | 5194 | PEX13 | Uncertain significance | -1 | RCV003068287; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244920 | 61244920 | | | NC_000002.11:g.61244920C>A | - | | |
NM_002618.4(PEX13):c.29A>G (p.Lys10Arg) | 5194 | PEX13 | Uncertain significance | 1230492316 | RCV001926060; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244923 | 61244923 | | | 61244923 | - | | |
NM_002618.4(PEX13):c.29A>T (p.Lys10Ile) | 5194 | PEX13 | Uncertain significance | -1 | RCV002671764; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244923 | 61244923 | | | NC_000002.11:g.61244923A>T | - | | |
NM_002618.4(PEX13):c.31C>G (p.Pro11Ala) | 5194 | PEX13 | Uncertain significance | 1680108011 | RCV001894786; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244925 | 61244925 | | | 61244925 | - | | |
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) | 5194 | PEX13 | Uncertain significance | 564528921 | RCV001055417|RCV001812877|RCV002523137; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 2 | 61244926 | 61244926 | | | NC_000002.11:g.61244926C>T | ClinGen:CA1673190 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.32C>A (p.Pro11His) | 5194 | PEX13 | Uncertain significance | 564528921 | RCV000728132|RCV001140450; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244926 | 61244926 | | | NC_000002.11:g.61244926C>A | - | | |
NM_002618.4(PEX13):c.32C>G (p.Pro11Arg) | 5194 | PEX13 | Uncertain significance | 564528921 | RCV001958345; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244926 | 61244926 | | | 61244926 | - | | |
NM_002618.4(PEX13):c.33C>G (p.Pro11=) | 5194 | PEX13 | Likely benign | 1680108410 | RCV002104558; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244927 | 61244927 | | | 61244927 | - | | |
NM_002618.4(PEX13):c.43C>T (p.Arg15Cys) | 5194 | PEX13 | Uncertain significance | 1311634962 | RCV001233844; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244937 | 61244937 | | | 2:g.61244937C>T | - | | |
NM_002618.4(PEX13):c.44G>A (p.Arg15His) | 5194 | PEX13 | Uncertain significance | 576438646 | RCV002028841; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244938 | 61244938 | | | 61244938 | - | | |
NM_002618.4(PEX13):c.45C>G (p.Arg15=) | 5194 | PEX13 | Likely benign | 1405144717 | RCV001483043; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244939 | 61244939 | | | 61244939 | - | | |
NM_002618.4(PEX13):c.45C>T (p.Arg15=) | 5194 | PEX13 | Likely benign | 1405144717 | RCV002090170; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244939 | 61244939 | | | 61244939 | - | | |
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter) | 5194 | PEX13 | Pathogenic | 1178588746 | RCV001907969; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244940 | 61244940 | | | 61244940 | - | | |
NM_002618.4(PEX13):c.53C>T (p.Pro18Leu) | 5194 | PEX13 | Uncertain significance | 2104787557 | RCV002033107; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244947 | 61244947 | | | 61244947 | - | | |
NM_002618.4(PEX13):c.54G>A (p.Pro18=) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 1002699754 | RCV000731302|RCV001855655; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244948 | 61244948 | | | NC_000002.11:g.61244948G>A | - | | |
NM_002618.4(PEX13):c.54G>T (p.Pro18=) | 5194 | PEX13 | Likely benign | 1002699754 | RCV002209211; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244948 | 61244948 | | | 61244948 | - | | |
NM_002618.4(PEX13):c.59C>G (p.Ala20Gly) | 5194 | PEX13 | Uncertain significance | 2104787633 | RCV001961471; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244953 | 61244953 | | | 61244953 | - | | |
NM_002618.4(PEX13):c.60C>T (p.Ala20=) | 5194 | PEX13 | Likely benign | -1 | RCV002870946; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244954 | 61244954 | | | | - | | |
NM_002618.4(PEX13):c.62G>A (p.Gly21Glu) | 5194 | PEX13 | Uncertain significance | 1249025009 | RCV001899220; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244956 | 61244956 | | | 61244956 | - | | |
NM_002618.4(PEX13):c.64C>T (p.Pro22Ser) | 5194 | PEX13 | Uncertain significance | 1466677796 | RCV001863300; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244958 | 61244958 | | | 61244958 | - | | |
NM_002618.4(PEX13):c.66G>A (p.Pro22=) | 5194 | PEX13 | Likely benign | 1264694420 | RCV002021863; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244960 | 61244960 | | | 61244960 | - | | |
NM_002618.4(PEX13):c.67G>C (p.Gly23Arg) | 5194 | PEX13 | Uncertain significance | -1 | RCV003022127; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244961 | 61244961 | | | NC_000002.11:g.61244961G>C | - | | |
NM_002618.4(PEX13):c.68G>A (p.Gly23Glu) | 5194 | PEX13 | Uncertain significance | -1 | RCV002584538; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244962 | 61244962 | | | NC_000002.11:g.61244962G>A | - | | |
NM_002618.4(PEX13):c.70C>T (p.Pro24Ser) | 5194 | PEX13 | Uncertain significance | -1 | RCV003008980; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244964 | 61244964 | | | NC_000002.11:g.61244964C>T | - | | |
NM_002618.4(PEX13):c.84C>T (p.Pro28=) | 5194 | PEX13 | Likely benign | -1 | RCV002881111; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244978 | 61244978 | | | | - | | |
NM_002618.4(PEX13):c.85A>G (p.Thr29Ala) | 5194 | PEX13 | Uncertain significance | -1 | RCV002599113; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244979 | 61244979 | | | NC_000002.11:g.61244979A>G | - | | |
NM_002618.4(PEX13):c.86C>G (p.Thr29Ser) | 5194 | PEX13 | Uncertain significance | 543856265 | RCV001344157; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244980 | 61244980 | | | 61244980 | - | | |
NM_002618.4(PEX13):c.86C>A (p.Thr29Asn) | 5194 | PEX13 | Uncertain significance | 543856265 | RCV001870070; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244980 | 61244980 | | | 61244980 | - | | |
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) | 5194 | PEX13 | Uncertain significance | 771610641 | RCV000592064|RCV000765692|RCV001059125|RCV002531070; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912; MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61244983 | 61244983 | | | 2:g.61244983T>C | ClinGen:CA1673194 | CN169374 not specified; | |
NM_144709.4(PUS10):c.-16+151A>G | 5194 | PEX13 | Uncertain significance | 1291662088 | RCV002020707; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244992 | 61244992 | | | 61244992 | - | | |
NM_144709.4(PUS10):c.-16+150C>A | 5194 | PEX13 | Likely benign | -1 | RCV003120074; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244993 | 61244993 | | | NC_000002.11:g.61244993G>T | - | | |
NM_144709.4(PUS10):c.-16+147C>T | 5194 | PEX13 | Likely benign | 1387361776 | RCV002190376; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61244996 | 61244996 | | | 61244996 | - | | |
NM_144709.4(PUS10):c.-16+142G>A | 5194 | PEX13 | Uncertain significance | -1 | RCV002736705; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61245001 | 61245001 | | | NC_000002.11:g.61245001C>T | - | | |
NM_144709.4(PUS10):c.-16+141A>C | 5194 | PEX13 | Likely benign | -1 | RCV003015188; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61245002 | 61245002 | | | NC_000002.11:g.61245002T>G | - | | |
NM_144709.4(PUS10):c.-16+137C>G | 5194 | PEX13 | Likely benign | 1303497941 | RCV002078273; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61245006 | 61245006 | | | 61245006 | - | | |
NC_000002.11:g.(?_61258534)_(62063264_?)dup | 5194 | PEX13 | Uncertain significance | -1 | RCV001900545; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258534 | 62063264 | | | -1 | - | | |
NC_000002.11:g.(?_61258534)_(61275905_?)del | 5194 | PEX13 | Uncertain significance | -1 | RCV003122588; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258534 | 61275905 | | | | - | | |
NM_002618.4(PEX13):c.93-18A>C | 5194 | PEX13 | Likely benign | 773183074 | RCV002136566; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258536 | 61258536 | | | 61258536 | - | | |
NM_002618.4(PEX13):c.93-3dup | 5194 | PEX13 | Likely benign | 2104803114 | RCV002221048; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258547 | 61258548 | | | 61258547 | - | | |
NM_002618.4(PEX13):c.93-1G>A | 5194 | PEX13 | Likely pathogenic | -1 | RCV003024285; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258553 | 61258553 | | | NC_000002.11:g.61258553G>A | - | | |
NM_002618.4(PEX13):c.94T>C (p.Ser32Pro) | 5194 | PEX13 | Uncertain significance | 759610758 | RCV001982421; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258555 | 61258555 | | | 61258555 | - | | |
NM_002618.4(PEX13):c.95C>A (p.Ser32Tyr) | 5194 | PEX13 | Uncertain significance | -1 | RCV002627072; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258556 | 61258556 | | | NC_000002.11:g.61258556C>A | - | | |
NM_002618.4(PEX13):c.96T>A (p.Ser32=) | 5194 | PEX13 | Likely benign | -1 | RCV002725837; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258557 | 61258557 | | | | - | | |
NM_002618.4(PEX13):c.98C>A (p.Ala33Asp) | 5194 | PEX13 | Uncertain significance | 1458042764 | RCV001234844; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258559 | 61258559 | | | 2:g.61258559C>A | - | | |
NM_002618.4(PEX13):c.103T>A (p.Leu35Met) | 5194 | PEX13 | Uncertain significance | 752671523 | RCV001352393; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258564 | 61258564 | | | 61258564 | - | | |
NM_002618.4(PEX13):c.107_120del (p.Gly36fs) | 5194 | PEX13 | Likely pathogenic | 2104803129 | RCV001782601|RCV002293256; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258567 | 61258580 | | | 61258566 | OMIM:601789.0004 | | |
NM_002618.4(PEX13):c.113C>A (p.Thr38Asn) | 5194 | PEX13 | Uncertain significance | 763566050 | RCV001915460|RCV002554312; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61258574 | 61258574 | | | 61258574 | - | | |
NM_002618.4(PEX13):c.113C>T (p.Thr38Ile) | 5194 | PEX13 | Uncertain significance | -1 | RCV002971528; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258574 | 61258574 | | | NC_000002.11:g.61258574C>T | - | | |
NM_002618.4(PEX13):c.115T>G (p.Leu39Val) | 5194 | PEX13 | Uncertain significance | -1 | RCV003028995; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258576 | 61258576 | | | NC_000002.11:g.61258576T>G | - | | |
NM_002618.4(PEX13):c.116T>C (p.Leu39Ser) | 5194 | PEX13 | Uncertain significance | 1351769986 | RCV001975682; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258577 | 61258577 | | | 61258577 | - | | |
NM_002618.4(PEX13):c.119T>C (p.Met40Thr) | 5194 | PEX13 | Uncertain significance | -1 | RCV002796023; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258580 | 61258580 | | | NC_000002.11:g.61258580T>C | - | | |
NM_002618.4(PEX13):c.121A>G (p.Thr41Ala) | 5194 | PEX13 | Uncertain significance | 757604504 | RCV001877926; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258582 | 61258582 | | | 61258582 | - | | |
NM_002618.4(PEX13):c.122C>T (p.Thr41Ile) | 5194 | PEX13 | Uncertain significance | 1282669816 | RCV001989219; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258583 | 61258583 | | | 61258583 | - | | |
NM_002618.4(PEX13):c.123A>G (p.Thr41=) | 5194 | PEX13 | Likely benign | -1 | RCV002846257; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258584 | 61258584 | | | | - | | |
NM_002618.4(PEX13):c.126A>G (p.Arg42=) | 5194 | PEX13 | Likely benign | 781477994 | RCV001406946; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258587 | 61258587 | | | 61258587 | - | | |
NM_002618.4(PEX13):c.130G>A (p.Gly44Arg) | 5194 | PEX13 | Uncertain significance | 1281056404 | RCV001367959; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258591 | 61258591 | | | 61258591 | - | | |
NM_002618.4(PEX13):c.135A>T (p.Gln45His) | 5194 | PEX13 | Uncertain significance | -1 | RCV002828621; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258596 | 61258596 | | | NC_000002.11:g.61258596A>T | - | | |
NM_002618.4(PEX13):c.138A>G (p.Pro46=) | 5194 | PEX13 | Likely benign | -1 | RCV002838981; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258599 | 61258599 | | | | - | | |
NM_002618.4(PEX13):c.139G>A (p.Ala47Thr) | 5194 | PEX13 | Uncertain significance | 1292631867 | RCV001977523; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258600 | 61258600 | | | 61258600 | - | | |
NM_002618.4(PEX13):c.141A>G (p.Ala47=) | 5194 | PEX13 | Benign/Likely benign | 79842991 | RCV000349805|RCV001513324; | N | MedGen:CN169374|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258602 | 61258602 | | | 2:g.61258602A>G | ClinGen:CA1673246 | CN169374 not specified; | |
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 60203778 | RCV000318147|RCV001057894; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258603 | 61258603 | | | 2:g.61258603C>T | ClinGen:CA1673247 | CN169374 not specified; | |
NM_002618.4(PEX13):c.148del (p.Arg50fs) | 5194 | PEX13 | Pathogenic | -1 | RCV002801561; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258609 | 61258609 | | | NC_000002.11:g.61258609del | - | | |
NM_002618.4(PEX13):c.151G>A (p.Val51Met) | 5194 | PEX13 | Uncertain significance | 2104803197 | RCV001966222; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258612 | 61258612 | | | 61258612 | - | | |
NM_002618.4(PEX13):c.154C>A (p.Pro52Thr) | 5194 | PEX13 | Uncertain significance | 1210739309 | RCV001937081; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258615 | 61258615 | | | 61258615 | - | | |
NM_002618.4(PEX13):c.156C>T (p.Pro52=) | 5194 | PEX13 | Likely benign | 562629125 | RCV002086832; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258617 | 61258617 | | | 61258617 | - | | |
NM_002618.4(PEX13):c.159_160del (p.Pro54fs) | 5194 | PEX13 | Pathogenic | 2104803205 | RCV002002402; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258619 | 61258620 | | | 61258618 | - | | |
NM_002618.4(PEX13):c.163A>G (p.Ile55Val) | 5194 | PEX13 | Uncertain significance | -1 | RCV002771408; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258624 | 61258624 | | | NC_000002.11:g.61258624A>G | - | | |
NM_002618.4(PEX13):c.166C>T (p.Leu56Phe) | 5194 | PEX13 | Uncertain significance | 1292485549 | RCV001880538; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258627 | 61258627 | | | 61258627 | - | | |
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly) | 5194 | PEX13 | Uncertain significance | 886056196 | RCV000385503; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258654 | 61258654 | | | NC_000002.11:g.61258654A>G | ClinGen:CA10615893 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg) | 5194 | PEX13 | Uncertain significance | 752073595 | RCV000592131|RCV001142305|RCV003302923; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61258660 | 61258660 | | | 2:g.61258660A>C | ClinGen:CA1673255 | CN169374 not specified; | |
NM_002618.4(PEX13):c.201dup (p.Val68fs) | 5194 | PEX13 | Pathogenic | 1288976071 | RCV001931231; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258661 | 61258662 | | | 61258661 | - | | |
NM_002618.4(PEX13):c.202G>A (p.Val68Met) | 5194 | PEX13 | Uncertain significance | 1553423403 | RCV000595325|RCV001854026; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258663 | 61258663 | | | 2:g.61258663G>A | ClinGen:CA346941535 | CN169374 not specified; | |
NM_002618.4(PEX13):c.204G>T (p.Val68=) | 5194 | PEX13 | Likely benign | -1 | RCV002963082; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258665 | 61258665 | | | | - | | |
NM_002618.4(PEX13):c.205A>T (p.Asn69Tyr) | 5194 | PEX13 | Uncertain significance | 1338444377 | RCV001300269|RCV002541919; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61258666 | 61258666 | | | 61258666 | - | | |
NM_002618.4(PEX13):c.206A>G (p.Asn69Ser) | 5194 | PEX13 | Uncertain significance | -1 | RCV003049812; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258667 | 61258667 | | | NC_000002.11:g.61258667A>G | - | | |
NM_002618.4(PEX13):c.209C>G (p.Thr70Ser) | 5194 | PEX13 | Uncertain significance | 2104803233 | RCV001958406; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258670 | 61258670 | | | 61258670 | - | | |
NM_002618.4(PEX13):c.217C>G (p.Pro73Ala) | 5194 | PEX13 | Uncertain significance | 767895802 | RCV001863252; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258678 | 61258678 | | | 61258678 | - | | |
NM_002618.4(PEX13):c.226A>G (p.Ser76Gly) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 148296743 | RCV000732631|RCV001080682; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258687 | 61258687 | | | NC_000002.11:g.61258687A>G | - | | |
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr) | 5194 | PEX13 | Benign/Likely benign | 150161574 | RCV000175727|RCV000879718; | N | MedGen:CN169374|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258690 | 61258690 | | | 2:g.61258690T>A | ClinGen:CA241469 | CN169374 not specified; | |
NM_002618.4(PEX13):c.239C>T (p.Ser80Phe) | 5194 | PEX13 | Uncertain significance | -1 | RCV002295722; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258700 | 61258700 | | | 61258700 | - | | |
NM_002618.4(PEX13):c.241G>A (p.Gly81Arg) | 5194 | PEX13 | Uncertain significance | 892846278 | RCV002038030; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258702 | 61258702 | | | 61258702 | - | | |
NM_002618.4(PEX13):c.254A>G (p.Tyr85Cys) | 5194 | PEX13 | Uncertain significance | -1 | RCV003112878; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258715 | 61258715 | | | NC_000002.11:g.61258715A>G | - | | |
NM_002618.4(PEX13):c.257G>A (p.Gly86Glu) | 5194 | PEX13 | Uncertain significance | 752312334 | RCV002261683|RCV003095890; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258718 | 61258718 | | | 61258718 | - | | |
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) | 5194 | PEX13 | Uncertain significance | 367843599 | RCV000274515; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258721 | 61258721 | | | NC_000002.11:g.61258721A>G | ClinGen:CA1673261 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.268T>G (p.Tyr90Asp) | 5194 | PEX13 | Uncertain significance | -1 | RCV003019922; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258729 | 61258729 | | | NC_000002.11:g.61258729T>G | - | | |
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys) | 5194 | PEX13 | Uncertain significance | 200928725 | RCV000332182; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258730 | 61258730 | | | NC_000002.11:g.61258730A>G | ClinGen:CA1673265 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.270T>C (p.Tyr90=) | 5194 | PEX13 | Likely benign | 946922546 | RCV002173053; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258731 | 61258731 | | | 61258731 | - | | |
NM_002618.4(PEX13):c.275G>A (p.Gly92Asp) | 5194 | PEX13 | Uncertain significance | 745620818 | RCV000597041|RCV000822066; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258736 | 61258736 | | | NC_000002.11:g.61258736G>A | ClinGen:CA1673266 | CN169374 not specified; | |
NM_002618.4(PEX13):c.276C>T (p.Gly92=) | 5194 | PEX13 | Likely benign | 770117657 | RCV002200374; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258737 | 61258737 | | | 61258737 | - | | |
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys) | 5194 | PEX13 | Uncertain significance | 200211896 | RCV001207357|RCV002480677|RCV002561659; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912; MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44|MeSH:D030342,MedGen:C0950123 | 2 | 61258739 | 61258739 | | | 2:g.61258739A>G | - | | |
NM_002618.4(PEX13):c.283C>T (p.Pro95Ser) | 5194 | PEX13 | Uncertain significance | 1680451211 | RCV001981512; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258744 | 61258744 | | | 61258744 | - | | |
NM_002618.4(PEX13):c.285T>G (p.Pro95=) | 5194 | PEX13 | Likely benign | 749465384 | RCV002083157; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258746 | 61258746 | | | 61258746 | - | | |
NM_002618.4(PEX13):c.289A>G (p.Ser97Gly) | 5194 | PEX13 | Uncertain significance | -1 | RCV002654938; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258750 | 61258750 | | | NC_000002.11:g.61258750A>G | - | | |
NM_002618.4(PEX13):c.294T>C (p.Tyr98=) | 5194 | PEX13 | Likely benign | 762328486 | RCV001486150; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258755 | 61258755 | | | 61258755 | - | | |
NM_002618.4(PEX13):c.296G>T (p.Gly99Val) | 5194 | PEX13 | Uncertain significance | -1 | RCV002640488; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258757 | 61258757 | | | NC_000002.11:g.61258757G>T | - | | |
NM_002618.4(PEX13):c.300T>C (p.Tyr100=) | 5194 | PEX13 | Likely benign | 2104803312 | RCV002126456; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258761 | 61258761 | | | 61258761 | - | | |
NM_002618.4(PEX13):c.302A>G (p.Asn101Ser) | 5194 | PEX13 | Uncertain significance | 1680451583 | RCV001364356; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258763 | 61258763 | | | 61258763 | - | | |
NM_002618.4(PEX13):c.307C>G (p.Leu103Val) | 5194 | PEX13 | Uncertain significance | 767987790 | RCV001896352; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258768 | 61258768 | | | 61258768 | - | | |
NM_002618.4(PEX13):c.309G>T (p.Leu103=) | 5194 | PEX13 | Likely benign | -1 | RCV003013502; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258770 | 61258770 | | | | - | | |
NM_002618.4(PEX13):c.311G>A (p.Gly104Asp) | 5194 | PEX13 | Uncertain significance | 773664586 | RCV001362211; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258772 | 61258772 | | | 61258772 | - | | |
NM_002618.4(PEX13):c.314A>G (p.Tyr105Cys) | 5194 | PEX13 | Uncertain significance | -1 | RCV002811925; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258775 | 61258775 | | | NC_000002.11:g.61258775A>G | - | | |
NM_002618.4(PEX13):c.318C>T (p.Asn106=) | 5194 | PEX13 | Likely benign | 2104803339 | RCV002213440; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258779 | 61258779 | | | 61258779 | - | | |
NM_002618.4(PEX13):c.319C>T (p.Arg107Cys) | 5194 | PEX13 | Uncertain significance | 776824458 | RCV002041661; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258780 | 61258780 | | | 61258780 | - | | |
NM_002618.4(PEX13):c.320G>A (p.Arg107His) | 5194 | PEX13 | Uncertain significance | 766710343 | RCV002038653; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258781 | 61258781 | | | 61258781 | - | | |
NM_002618.4(PEX13):c.321C>A (p.Arg107=) | 5194 | PEX13 | Likely benign | 1245330810 | RCV002165643; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258782 | 61258782 | | | 61258782 | - | | |
NM_002618.4(PEX13):c.322C>T (p.Leu108Phe) | 5194 | PEX13 | Uncertain significance | 138030119 | RCV002007638; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258783 | 61258783 | | | 61258783 | - | | |
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 143972531 | RCV000597196|RCV001078538; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258786 | 61258786 | | | 2:g.61258786C>T | ClinGen:CA1673278 | CN169374 not specified; | |
NM_002618.4(PEX13):c.326G>A (p.Arg109His) | 5194 | PEX13 | Uncertain significance | 372193938 | RCV002040993; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258787 | 61258787 | | | 61258787 | - | | |
NM_002618.4(PEX13):c.326G>C (p.Arg109Pro) | 5194 | PEX13 | Uncertain significance | 372193938 | RCV001980951; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258787 | 61258787 | | | 61258787 | - | | |
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 202077756 | RCV000389018; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258799 | 61258799 | | | NC_000002.11:g.61258799T>C | ClinGen:CA1673282 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.340C>G (p.Pro114Ala) | 5194 | PEX13 | Uncertain significance | -1 | RCV003078278; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258801 | 61258801 | | | NC_000002.11:g.61258801C>G | - | | |
NM_002618.4(PEX13):c.345C>T (p.Pro115=) | 5194 | PEX13 | Likely benign | 2104803376 | RCV002173462; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258806 | 61258806 | | | 61258806 | - | | |
NM_002618.4(PEX13):c.353T>A (p.Phe118Tyr) | 5194 | PEX13 | Uncertain significance | 749542687 | RCV000734189|RCV001247678|RCV002536513; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61258814 | 61258814 | | | NC_000002.11:g.61258814T>A | - | | |
NM_002618.4(PEX13):c.354T>C (p.Phe118=) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 143378216 | RCV000595614|RCV001089344; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258815 | 61258815 | | | 2:g.61258815T>C | ClinGen:CA1673287 | CN169374 not specified; | |
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 147707348 | RCV000594107|RCV000882202|RCV001081489; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258816 | 61258816 | | | NC_000002.11:g.61258816G>A | ClinGen:CA1673288 | CN169374 not specified; | |
NM_002618.4(PEX13):c.366T>C (p.Ala122=) | 5194 | PEX13 | Likely benign | 2104803394 | RCV002190102; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258827 | 61258827 | | | 61258827 | - | | |
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter) | 5194 | PEX13 | Pathogenic | 2104803395 | RCV001920585|RCV002285029; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44 | 2 | 61258828 | 61258828 | | | 61258828 | - | | |
NM_002618.4(PEX13):c.374G>A (p.Ser125Asn) | 5194 | PEX13 | Uncertain significance | 748193136 | RCV002026044; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258835 | 61258835 | | | 61258835 | - | | |
NM_002618.4(PEX13):c.378C>T (p.Ser126=) | 5194 | PEX13 | Likely benign | 939500739 | RCV001479205; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258839 | 61258839 | | | 61258839 | - | | |
NM_002618.4(PEX13):c.379A>T (p.Arg127Trp) | 5194 | PEX13 | Uncertain significance | 1224323223 | RCV001864292; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258840 | 61258840 | | | 61258840 | - | | |
NM_002618.4(PEX13):c.381G>A (p.Arg127=) | 5194 | PEX13 | Likely benign | 772627459 | RCV002183467; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258842 | 61258842 | | | 61258842 | - | | |
NM_002618.4(PEX13):c.382G>C (p.Gly128Arg) | 5194 | PEX13 | Uncertain significance | -1 | RCV003065660; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258843 | 61258843 | | | NC_000002.11:g.61258843G>C | - | | |
NM_002618.4(PEX13):c.382G>T (p.Gly128Cys) | 5194 | PEX13 | Uncertain significance | -1 | RCV003016769; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258843 | 61258843 | | | NC_000002.11:g.61258843G>T | - | | |
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 554152771 | RCV000625910|RCV001815420; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MedGen:C3661900 | 2 | 61258844 | 61258844 | | | 2:g.61258844G>T | ClinGen:CA1673291 | C3554000 614883 Peroxisome biogenesis disorder 11A; | |
NM_002618.4(PEX13):c.403A>T (p.Ser135Cys) | 5194 | PEX13 | Uncertain significance | 1357787046 | RCV002001240; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258864 | 61258864 | | | 61258864 | - | | |
NM_002618.4(PEX13):c.408T>A (p.Ile136=) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 145776973 | RCV000729741|RCV001467803; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258869 | 61258869 | | | NC_000002.11:g.61258869T>A | - | | |
NM_002618.4(PEX13):c.409G>A (p.Val137Met) | 5194 | PEX13 | Uncertain significance | 768438349 | RCV000733081|RCV001868983|RCV002536491; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61258870 | 61258870 | | | NC_000002.11:g.61258870G>A | - | | |
NM_002618.4(PEX13):c.417A>G (p.Ala139=) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 886056197 | RCV000344942; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258878 | 61258878 | | | NC_000002.11:g.61258878A>G | ClinGen:CA10614205 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.419T>C (p.Phe140Ser) | 5194 | PEX13 | Uncertain significance | -1 | RCV003047601; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258880 | 61258880 | | | NC_000002.11:g.61258880T>C | - | | |
NM_002618.4(PEX13):c.431G>T (p.Ser144Ile) | 5194 | PEX13 | Uncertain significance | 762747711 | RCV001346524; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258892 | 61258892 | | | 61258892 | - | | |
NM_002618.4(PEX13):c.433A>G (p.Met145Val) | 5194 | PEX13 | Uncertain significance | 1345860074 | RCV002019230; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258894 | 61258894 | | | 61258894 | - | | |
NM_002618.4(PEX13):c.435G>A (p.Met145Ile) | 5194 | PEX13 | Uncertain significance | 1345774394 | RCV001864162; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258896 | 61258896 | | | 61258896 | - | | |
NM_002618.4(PEX13):c.448A>G (p.Thr150Ala) | 5194 | PEX13 | Uncertain significance | -1 | RCV002938438; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258909 | 61258909 | | | NC_000002.11:g.61258909A>G | - | | |
NM_002618.4(PEX13):c.450C>T (p.Thr150=) | 5194 | PEX13 | Likely benign | 1228236816 | RCV001471789; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258911 | 61258911 | | | 61258911 | - | | |
NM_002618.4(PEX13):c.458C>T (p.Ala153Val) | 5194 | PEX13 | Uncertain significance | 2104803452 | RCV001869876; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258919 | 61258919 | | | 61258919 | - | | |
NM_002618.4(PEX13):c.460G>A (p.Val154Ile) | 5194 | PEX13 | Uncertain significance | 2104803454 | RCV001874181; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258921 | 61258921 | | | 61258921 | - | | |
NM_002618.4(PEX13):c.463T>C (p.Tyr155His) | 5194 | PEX13 | Uncertain significance | 2104803455 | RCV001998873; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258924 | 61258924 | | | 61258924 | - | | |
NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys) | 5194 | PEX13 | Uncertain significance | 1298522041 | RCV000705054; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258925 | 61258925 | | | NC_000002.11:g.61258925A>G | - | C3554000 614883 Peroxisome biogenesis disorder 11A; | |
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter) | 5194 | PEX13 | Pathogenic/Likely pathogenic | 369851185 | RCV000707004|RCV001784347; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MedGen:CN517202 | 2 | 61258926 | 61258926 | | | NC_000002.11:g.61258926T>G | - | C3554000 614883 Peroxisome biogenesis disorder 11A; | |
NM_002618.4(PEX13):c.475A>G (p.Arg159Gly) | 5194 | PEX13 | Uncertain significance | 2104803471 | RCV001917538; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258936 | 61258936 | | | 61258936 | - | | |
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) | 5194 | PEX13 | Uncertain significance | 1559035602 | RCV000705053; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258939 | 61258939 | | | NC_000002.11:g.61258939G>C | - | C3554000 614883 Peroxisome biogenesis disorder 11A; | |
NM_002618.4(PEX13):c.484T>C (p.Leu162=) | 5194 | PEX13 | Likely benign | -1 | RCV002805822; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258945 | 61258945 | | | | - | | |
NM_002618.4(PEX13):c.487G>C (p.Asp163His) | 5194 | PEX13 | Uncertain significance | 969985837 | RCV002047004; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258948 | 61258948 | | | 61258948 | - | | |
NM_002618.4(PEX13):c.488A>T (p.Asp163Val) | 5194 | PEX13 | Uncertain significance | 2104803479 | RCV002006715; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258949 | 61258949 | | | 61258949 | - | | |
NM_002618.4(PEX13):c.493G>A (p.Ala165Thr) | 5194 | PEX13 | Uncertain significance | 1481858907 | RCV001964439; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258954 | 61258954 | | | 61258954 | - | | |
NM_002618.4(PEX13):c.499del (p.His167fs) | 5194 | PEX13 | Pathogenic | 2104803491 | RCV001875686; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258960 | 61258960 | | | 61258959 | - | | |
NM_002618.4(PEX13):c.500A>G (p.His167Arg) | 5194 | PEX13 | Uncertain significance | 1336772620 | RCV001890422; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258961 | 61258961 | | | 61258961 | - | | |
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter) | 5194 | PEX13 | Pathogenic | 553968959 | RCV000697441|RCV001268567; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MedGen:C3661900 | 2 | 61258969 | 61258969 | | | NC_000002.11:g.61258969C>T | - | C3554000 614883 Peroxisome biogenesis disorder 11A; | |
NM_002618.4(PEX13):c.508C>A (p.Arg170=) | 5194 | PEX13 | Uncertain significance | 553968959 | RCV001238190; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258969 | 61258969 | | | 2:g.61258969C>A | - | | |
NM_002618.4(PEX13):c.509G>A (p.Arg170Gln) | 5194 | PEX13 | Uncertain significance | 779100414 | RCV001989398; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258970 | 61258970 | | | 61258970 | - | | |
NM_002618.4(PEX13):c.511T>C (p.Leu171=) | 5194 | PEX13 | Likely benign | -1 | RCV003026426; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258972 | 61258972 | | | | - | | |
NM_002618.4(PEX13):c.520C>T (p.His174Tyr) | 5194 | PEX13 | Uncertain significance | -1 | RCV003075968|RCV003086215; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61258981 | 61258981 | | | NC_000002.11:g.61258981C>T | - | | |
NM_002618.4(PEX13):c.529_531del (p.Lys177del) | 5194 | PEX13 | Uncertain significance | 1680456530 | RCV001090116; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61258989 | 61258991 | | | 2:g.61258989_61258991del | - | | |
NM_002618.4(PEX13):c.549A>G (p.Ala183=) | 5194 | PEX13 | Likely benign | -1 | RCV002857113; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259010 | 61259010 | | | | - | | |
NM_002618.4(PEX13):c.556A>T (p.Arg186Trp) | 5194 | PEX13 | Uncertain significance | 2104803544 | RCV002048015; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259017 | 61259017 | | | 61259017 | - | | |
NM_002618.4(PEX13):c.561T>C (p.Thr187=) | 5194 | PEX13 | Likely benign | 1442600682 | RCV002189012; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259022 | 61259022 | | | 61259022 | - | | |
NM_002618.4(PEX13):c.562A>G (p.Ile188Val) | 5194 | PEX13 | Uncertain significance | 1360784990 | RCV002044969; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259023 | 61259023 | | | 61259023 | - | | |
NM_002618.4(PEX13):c.563T>C (p.Ile188Thr) | 5194 | PEX13 | Uncertain significance | 2104803547 | RCV002013059; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259024 | 61259024 | | | 61259024 | - | | |
NM_002618.4(PEX13):c.564A>C (p.Ile188=) | 5194 | PEX13 | Likely benign | -1 | RCV002937514; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259025 | 61259025 | | | | - | | |
NM_002618.4(PEX13):c.565C>T (p.Arg189Trp) | 5194 | PEX13 | Uncertain significance | 771451906 | RCV001978618; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259026 | 61259026 | | | 61259026 | - | | |
NM_002618.4(PEX13):c.566G>A (p.Arg189Gln) | 5194 | PEX13 | Uncertain significance | 777179456 | RCV001298135; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259027 | 61259027 | | | 61259027 | - | | |
NM_002618.4(PEX13):c.566G>T (p.Arg189Leu) | 5194 | PEX13 | Uncertain significance | 777179456 | RCV001991944; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259027 | 61259027 | | | 61259027 | - | | |
NM_002618.4(PEX13):c.568T>C (p.Tyr190His) | 5194 | PEX13 | Uncertain significance | 2104803558 | RCV001890608; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259029 | 61259029 | | | 61259029 | - | | |
NM_002618.4(PEX13):c.569A>G (p.Tyr190Cys) | 5194 | PEX13 | Uncertain significance | 763396088 | RCV002039907; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259030 | 61259030 | | | 61259030 | - | | |
NM_002618.4(PEX13):c.579A>G (p.Arg193=) | 5194 | PEX13 | Likely benign | 2104803563 | RCV002184160; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259040 | 61259040 | | | 61259040 | - | | |
NM_002618.4(PEX13):c.580C>T (p.Arg194Trp) | 5194 | PEX13 | Uncertain significance | 774157693 | RCV001230282; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259041 | 61259041 | | | 2:g.61259041C>T | - | | |
NM_002618.4(PEX13):c.580C>A (p.Arg194=) | 5194 | PEX13 | Likely benign | 774157693 | RCV002142586; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259041 | 61259041 | | | 61259041 | - | | |
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln) | 5194 | PEX13 | Uncertain significance | 761487103 | RCV001142306; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259042 | 61259042 | | | 2:g.61259042G>A | - | | |
NM_002618.4(PEX13):c.585A>G (p.Leu195=) | 5194 | PEX13 | Likely benign | -1 | RCV003020951; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259046 | 61259046 | | | | - | | |
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) | 5194 | PEX13 | Pathogenic | 1559035738 | RCV000694806; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259047 | 61259047 | | | 2:g.61259047C>T | - | C3554000 614883 Peroxisome biogenesis disorder 11A; | |
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 903847229 | RCV001295763|RCV002538460|RCV002486120; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44; MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259050 | 61259050 | | | 61259050 | - | | |
NM_002618.4(PEX13):c.590G>A (p.Arg197Gln) | 5194 | PEX13 | Uncertain significance | -1 | RCV002979010; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259051 | 61259051 | | | NC_000002.11:g.61259051G>A | - | | |
NM_002618.4(PEX13):c.591G>A (p.Arg197=) | 5194 | PEX13 | Likely benign | 2104803591 | RCV002071538; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259052 | 61259052 | | | 61259052 | - | | |
NM_002618.4(PEX13):c.592A>T (p.Met198Leu) | 5194 | PEX13 | Uncertain significance | 760577554 | RCV001877309; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259053 | 61259053 | | | 61259053 | - | | |
NM_002618.4(PEX13):c.594G>A (p.Met198Ile) | 5194 | PEX13 | Uncertain significance | 1388373241 | RCV001978938; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259055 | 61259055 | | | 61259055 | - | | |
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile) | 5194 | PEX13 | Uncertain significance | 565873587 | RCV001944479|RCV002503425; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912; MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44 | 2 | 61259056 | 61259056 | | | 61259056 | - | | |
NM_002618.4(PEX13):c.599G>A (p.Gly200Asp) | 5194 | PEX13 | Uncertain significance | 753698277 | RCV001890287; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259060 | 61259060 | | | 61259060 | - | | |
NM_002618.4(PEX13):c.605G>A (p.Arg202Lys) | 5194 | PEX13 | Uncertain significance | 1336466520 | RCV001210573; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259066 | 61259066 | | | 2:g.61259066G>A | - | | |
NM_002618.4(PEX13):c.610G>A (p.Gly204Ser) | 5194 | PEX13 | Uncertain significance | 2104803612 | RCV001995871; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259071 | 61259071 | | | 61259071 | - | | |
NM_002618.4(PEX13):c.611G>A (p.Gly204Asp) | 5194 | PEX13 | Uncertain significance | 752948360 | RCV000729710|RCV001341843; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259072 | 61259072 | | | NC_000002.11:g.61259072G>A | - | | |
NM_002618.4(PEX13):c.611G>C (p.Gly204Ala) | 5194 | PEX13 | Uncertain significance | -1 | RCV002863709; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259072 | 61259072 | | | NC_000002.11:g.61259072G>C | - | | |
NM_002618.4(PEX13):c.612C>T (p.Gly204=) | 5194 | PEX13 | Likely benign | 2104803616 | RCV002177244; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259073 | 61259073 | | | 61259073 | - | | |
NM_002618.4(PEX13):c.618G>C (p.Glu206Asp) | 5194 | PEX13 | Uncertain significance | 1680458661 | RCV002045397; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259079 | 61259079 | | | 61259079 | - | | |
NM_002618.4(PEX13):c.620A>C (p.Asn207Thr) | 5194 | PEX13 | Uncertain significance | 1316575619 | RCV001322207|RCV002546090; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61259081 | 61259081 | | | 61259081 | - | | |
NM_002618.4(PEX13):c.624A>G (p.Glu208=) | 5194 | PEX13 | Likely benign | 2104803624 | RCV002194361; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259085 | 61259085 | | | 61259085 | - | | |
NM_002618.4(PEX13):c.625G>T (p.Asp209Tyr) | 5194 | PEX13 | Uncertain significance | -1 | RCV002856237; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259086 | 61259086 | | | NC_000002.11:g.61259086G>T | - | | |
NM_002618.4(PEX13):c.629T>C (p.Leu210Pro) | 5194 | PEX13 | Uncertain significance | -1 | RCV003019233; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259090 | 61259090 | | | NC_000002.11:g.61259090T>C | - | | |
NM_002618.4(PEX13):c.633G>A (p.Trp211Ter) | 5194 | PEX13 | Pathogenic | -1 | RCV002898766; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259094 | 61259094 | | | NC_000002.11:g.61259094G>A | - | | |
NM_002618.4(PEX13):c.640A>G (p.Ser214Gly) | 5194 | PEX13 | Uncertain significance | 2104803638 | RCV002008049; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259101 | 61259101 | | | 61259101 | - | | |
NM_002618.4(PEX13):c.641G>C (p.Ser214Thr) | 5194 | PEX13 | Uncertain significance | 1207829224 | RCV002001144; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259102 | 61259102 | | | 61259102 | - | | |
NM_002618.4(PEX13):c.647G>C (p.Gly216Ala) | 5194 | PEX13 | Uncertain significance | -1 | RCV003116163; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259108 | 61259108 | | | NC_000002.11:g.61259108G>C | - | | |
NM_002618.4(PEX13):c.659G>A (p.Cys220Tyr) | 5194 | PEX13 | Uncertain significance | 988856957 | RCV001980791; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259120 | 61259120 | | | 61259120 | - | | |
NM_002618.4(PEX13):c.660C>T (p.Cys220=) | 5194 | PEX13 | Likely benign | -1 | RCV003036725; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259121 | 61259121 | | | | - | | |
NM_002618.4(PEX13):c.661C>G (p.Leu221Val) | 5194 | PEX13 | Uncertain significance | 192034592 | RCV001041897; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259122 | 61259122 | | | 2:g.61259122C>G | - | | |
NM_002618.4(PEX13):c.662T>G (p.Leu221Arg) | 5194 | PEX13 | Uncertain significance | 1475093874 | RCV002037069; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259123 | 61259123 | | | 61259123 | - | | |
NM_002618.4(PEX13):c.669T>C (p.Ala223=) | 5194 | PEX13 | Likely benign | -1 | RCV003047613; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259130 | 61259130 | | | | - | | |
NM_002618.4(PEX13):c.672G>A (p.Glu224=) | 5194 | PEX13 | Likely benign | -1 | RCV002843666; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259133 | 61259133 | | | | - | | |
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) | 5194 | PEX13 | Benign/Likely benign | 116059308 | RCV000251440|RCV000442022|RCV001083261; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259135 | 61259135 | | | 2:g.61259135A>G | ClinGen:CA1673330 | CN517202 not provided; | |
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln) | 5194 | PEX13 | Uncertain significance | 775953595 | RCV000593604|RCV001204761|RCV002483607|RCV002531049; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912; MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44|MeSH:D030342,MedGen:C0950123 | 2 | 61259138 | 61259138 | | | 2:g.61259138G>A | ClinGen:CA1673332 | CN169374 not specified; | |
NM_002618.4(PEX13):c.684T>G (p.Ala228=) | 5194 | PEX13 | Likely benign | 2104803682 | RCV002180546; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259145 | 61259145 | | | 61259145 | - | | |
NM_002618.4(PEX13):c.691G>A (p.Ala231Thr) | 5194 | PEX13 | Uncertain significance | 1471254251 | RCV001885830; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259152 | 61259152 | | | 61259152 | - | | |
NM_002618.4(PEX13):c.696A>C (p.Lys232Asn) | 5194 | PEX13 | Uncertain significance | 1680460565 | RCV002040007; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259157 | 61259157 | | | 61259157 | - | | |
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter) | 5194 | PEX13 | Pathogenic | 104893661 | RCV000008142; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259163 | 61259163 | | | 2:g.61259163G>A | ClinGen:CA119009,OMIM:601789.0001 | C3554000 614883 Peroxisome biogenesis disorder 11A; | |
NM_002618.4(PEX13):c.705A>G (p.Pro235=) | 5194 | PEX13 | Likely benign | -1 | RCV003023947; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259166 | 61259166 | | | | - | | |
NM_002618.4(PEX13):c.706A>G (p.Ile236Val) | 5194 | PEX13 | Uncertain significance | 1292217685 | RCV001889223; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259167 | 61259167 | | | 61259167 | - | | |
NM_002618.4(PEX13):c.712T>G (p.Leu238Val) | 5194 | PEX13 | Uncertain significance | 1680460970 | RCV001344334; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259173 | 61259173 | | | 61259173 | - | | |
NM_002618.4(PEX13):c.716T>C (p.Phe239Ser) | 5194 | PEX13 | Uncertain significance | -1 | RCV002740767; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259177 | 61259177 | | | NC_000002.11:g.61259177T>C | - | | |
NM_002618.4(PEX13):c.719T>G (p.Phe240Cys) | 5194 | PEX13 | Uncertain significance | -1 | RCV002720685; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259180 | 61259180 | | | NC_000002.11:g.61259180T>G | - | | |
NM_002618.4(PEX13):c.723T>A (p.Ala241=) | 5194 | PEX13 | Uncertain significance | 1205501080 | RCV001947546; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259184 | 61259184 | | | 61259184 | - | | |
NM_002618.4(PEX13):c.727A>G (p.Ile243Val) | 5194 | PEX13 | Uncertain significance | -1 | RCV003032379; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259188 | 61259188 | | | NC_000002.11:g.61259188A>G | - | | |
NM_002618.4(PEX13):c.745C>T (p.Leu249Phe) | 5194 | PEX13 | Uncertain significance | 2104803738 | RCV001985923; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259206 | 61259206 | | | 61259206 | - | | |
NM_002618.4(PEX13):c.750T>C (p.Ile250=) | 5194 | PEX13 | Likely benign | 765039738 | RCV002091401; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259211 | 61259211 | | | 61259211 | - | | |
NM_002618.4(PEX13):c.759_760del (p.Leu254fs) | 5194 | PEX13 | Pathogenic | -1 | RCV003038481; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259219 | 61259220 | | | NC_000002.11:g.61259220_61259221del | - | | |
NM_002618.4(PEX13):c.759A>G (p.Leu253=) | 5194 | PEX13 | Likely benign | 752467884 | RCV002145304; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259220 | 61259220 | | | 61259220 | - | | |
NM_002618.4(PEX13):c.759A>T (p.Leu253=) | 5194 | PEX13 | Likely benign | -1 | RCV002843155; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259220 | 61259220 | | | | - | | |
NM_002618.4(PEX13):c.762G>A (p.Leu254=) | 5194 | PEX13 | Likely benign | 1282121871 | RCV002095017; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259223 | 61259223 | | | 61259223 | - | | |
NM_002618.4(PEX13):c.767C>T (p.Thr256Ile) | 5194 | PEX13 | Uncertain significance | 985608709 | RCV002035835; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259228 | 61259228 | | | 61259228 | - | | |
NM_002618.4(PEX13):c.769C>T (p.His257Tyr) | 5194 | PEX13 | Uncertain significance | -1 | RCV002796213; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259230 | 61259230 | | | NC_000002.11:g.61259230C>T | - | | |
NM_002618.4(PEX13):c.774T>A (p.Ser258Arg) | 5194 | PEX13 | Uncertain significance | -1 | RCV002751349; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259235 | 61259235 | | | NC_000002.11:g.61259235T>A | - | | |
NM_002618.4(PEX13):c.777T>C (p.Asp259=) | 5194 | PEX13 | Likely benign | 781350418 | RCV001997905|RCV003434373; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MedGen:C3661900 | 2 | 61259238 | 61259238 | | | 61259238 | - | | |
NM_002618.4(PEX13):c.778G>C (p.Glu260Gln) | 5194 | PEX13 | Uncertain significance | -1 | RCV002810460; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259239 | 61259239 | | | NC_000002.11:g.61259239G>C | - | | |
NM_002618.4(PEX13):c.787G>C (p.Asp263His) | 5194 | PEX13 | Uncertain significance | 766753038 | RCV002046733; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259248 | 61259248 | | | 61259248 | - | | |
NM_002618.4(PEX13):c.787+1G>A | 5194 | PEX13 | Likely pathogenic | 2104803776 | RCV001377147; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259249 | 61259249 | | | 61259249 | - | | |
NM_002618.4(PEX13):c.787+10C>T | 5194 | PEX13 | Likely benign | -1 | RCV003045728; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259258 | 61259258 | | | NC_000002.11:g.61259258C>T | - | | |
NM_002618.4(PEX13):c.787+12G>A | 5194 | PEX13 | Likely benign | 371678615 | RCV002035435; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259260 | 61259260 | | | 61259260 | - | | |
NM_002618.4(PEX13):c.787+12G>T | 5194 | PEX13 | Likely benign | -1 | RCV002714865; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61259260 | 61259260 | | | NC_000002.11:g.61259260G>T | - | | |
NC_000002.11:g.(?_61272841)_(61275905_?)del | 5194 | PEX13 | Uncertain significance | -1 | RCV003122589; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272841 | 61275905 | | | | - | | |
NC_000002.11:g.(?_61272841)_(61275905_?)dup | 5194 | PEX13 | Uncertain significance | -1 | RCV003122590; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272841 | 61275905 | | | | - | | |
NM_002618.4(PEX13):c.788-9G>C | 5194 | PEX13 | Likely benign | -1 | RCV002599498; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272852 | 61272852 | | | NC_000002.11:g.61272852G>C | - | | |
NM_002618.4(PEX13):c.788-8G>A | 5194 | PEX13 | Likely benign | 1680695333 | RCV002143528; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272853 | 61272853 | | | 61272853 | - | | |
NM_002618.4(PEX13):c.788-5T>C | 5194 | PEX13 | Likely benign | 561624639 | RCV002193283; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272856 | 61272856 | | | 61272856 | - | | |
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) | 5194 | PEX13 | Uncertain significance | 145568490 | RCV000177162|RCV001053159; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272864 | 61272864 | | | 2:g.61272864G>C | ClinGen:CA243273 | CN169374 not specified; | |
NM_002618.4(PEX13):c.802G>A (p.Ala268Thr) | 5194 | PEX13 | Uncertain significance | 762797895 | RCV001323784; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272875 | 61272875 | | | 61272875 | - | | |
NM_002618.4(PEX13):c.805A>G (p.Ser269Gly) | 5194 | PEX13 | Uncertain significance | -1 | RCV002710945; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272878 | 61272878 | | | NC_000002.11:g.61272878A>G | - | | |
NM_002618.4(PEX13):c.806G>C (p.Ser269Thr) | 5194 | PEX13 | Uncertain significance | 2104812693 | RCV002047421; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272879 | 61272879 | | | 61272879 | - | | |
NM_002618.4(PEX13):c.815A>G (p.Asp272Gly) | 5194 | PEX13 | Uncertain significance | 2104812700 | RCV002013425; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272888 | 61272888 | | | 61272888 | - | | |
NM_002618.4(PEX13):c.829dup (p.Ala277fs) | 5194 | PEX13 | Pathogenic | 2104812709 | RCV001936561; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272901 | 61272902 | | | 61272901 | - | | |
NM_002618.4(PEX13):c.831C>T (p.Ala277=) | 5194 | PEX13 | Likely benign | 751807871 | RCV002083223; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272904 | 61272904 | | | 61272904 | - | | |
NM_002618.4(PEX13):c.838G>C (p.Glu280Gln) | 5194 | PEX13 | Uncertain significance | -1 | RCV002812096; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272911 | 61272911 | | | NC_000002.11:g.61272911G>C | - | | |
NM_002618.4(PEX13):c.845A>G (p.Asp282Gly) | 5194 | PEX13 | Uncertain significance | 1573560642 | RCV001062460; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272918 | 61272918 | | | 2:g.61272918A>G | - | | |
NM_002618.4(PEX13):c.846T>G (p.Asp282Glu) | 5194 | PEX13 | Uncertain significance | -1 | RCV002584973; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272919 | 61272919 | | | NC_000002.11:g.61272919T>G | - | | |
NM_002618.4(PEX13):c.847T>G (p.Phe283Val) | 5194 | PEX13 | Uncertain significance | 1680696228 | RCV001051870; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272920 | 61272920 | | | 2:g.61272920T>G | - | | |
NM_002618.4(PEX13):c.848T>C (p.Phe283Ser) | 5194 | PEX13 | Uncertain significance | -1 | RCV002299081; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272921 | 61272921 | | | 61272921 | - | | |
NM_002618.4(PEX13):c.853G>C (p.Ala285Pro) | 5194 | PEX13 | Uncertain significance | 2104812755 | RCV001897129; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272926 | 61272926 | | | 61272926 | - | | |
NM_002618.4(PEX13):c.855C>T (p.Ala285=) | 5194 | PEX13 | Likely benign | 1438696242 | RCV002177799; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272928 | 61272928 | | | 61272928 | - | | |
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 201699810 | RCV000592320|RCV001083100; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272929 | 61272929 | | | NC_000002.11:g.61272929G>A | ClinGen:CA1673366 | CN169374 not specified; | |
NM_002618.4(PEX13):c.867A>C (p.Glu289Asp) | 5194 | PEX13 | Uncertain significance | -1 | RCV002587371; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272940 | 61272940 | | | NC_000002.11:g.61272940A>C | - | | |
NM_002618.4(PEX13):c.871A>G (p.Ile291Val) | 5194 | PEX13 | Uncertain significance | 1444535263 | RCV000594059|RCV001306489; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272944 | 61272944 | | | 2:g.61272944A>G | ClinGen:CA346948707 | CN169374 not specified; | |
NM_002618.4(PEX13):c.872T>C (p.Ile291Thr) | 5194 | PEX13 | Uncertain significance | -1 | RCV002301189; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272945 | 61272945 | | | 61272945 | - | | |
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 373118250 | RCV000493263|RCV001308586|RCV002469099|RCV002285016; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189|MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44 | 2 | 61272953 | 61272953 | | | 2:g.61272953C>T | ClinGen:CA1673368 | CN517202 not provided; | |
NM_002618.4(PEX13):c.881G>A (p.Arg294Gln) | 5194 | PEX13 | Uncertain significance | 377426614 | RCV001057758; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272954 | 61272954 | | | 2:g.61272954G>A | - | | |
NM_002618.4(PEX13):c.892A>T (p.Met298Leu) | 5194 | PEX13 | Uncertain significance | 2104812788 | RCV001945895; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272965 | 61272965 | | | 61272965 | - | | |
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 138545154 | RCV000177163|RCV000981678|RCV001250088; | N | MedGen:CN169374|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912; MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44 | 2 | 61272966 | 61272966 | | | 2:g.61272966T>C | ClinGen:CA243275 | CN169374 not specified; | |
NM_002618.4(PEX13):c.905C>G (p.Ala302Gly) | 5194 | PEX13 | Uncertain significance | 770549469 | RCV001297998; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272978 | 61272978 | | | 61272978 | - | | |
NM_002618.4(PEX13):c.913+1G>T | 5194 | PEX13 | Uncertain significance | -1 | RCV002572525; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272987 | 61272987 | | | NC_000002.11:g.61272987G>T | - | | |
NM_002618.4(PEX13):c.913+3A>G | 5194 | PEX13 | Uncertain significance | 2104812816 | RCV002013437; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272989 | 61272989 | | | 61272989 | - | | |
NM_002618.4(PEX13):c.913+5T>G | 5194 | PEX13 | Uncertain significance | 1380556679 | RCV001876384; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272991 | 61272991 | | | 61272991 | - | | |
NM_002618.4(PEX13):c.913+8A>G | 5194 | PEX13 | Likely benign | -1 | RCV003082259; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61272994 | 61272994 | | | NC_000002.11:g.61272994A>G | - | | |
NM_002618.4(PEX13):c.913+15A>G | 5194 | PEX13 | Likely benign | 185304365 | RCV001472804; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61273001 | 61273001 | | | 61273001 | - | | |
NM_002618.4(PEX13):c.913+19G>A | 5194 | PEX13 | Benign | 189410109 | RCV001521578; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61273005 | 61273005 | | | 61273005 | - | | |
NM_002618.4(PEX13):c.914-16C>G | 5194 | PEX13 | Likely benign | 987622142 | RCV002113921; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275591 | 61275591 | | | 61275591 | - | | |
NM_002618.4(PEX13):c.914-8dup | 5194 | PEX13 | Benign | 36090948 | RCV002184263; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275591 | 61275592 | | | 61275591 | - | | |
NM_002618.4(PEX13):c.914-16_914-15insA | 5194 | PEX13 | Likely benign | -1 | RCV002790113; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275591 | 61275592 | | | NC_000002.11:g.61275591_61275592insA | - | | |
NM_002618.4(PEX13):c.914-12T>C | 5194 | PEX13 | Likely benign | 1015226405 | RCV002173691; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275595 | 61275595 | | | 61275595 | - | | |
NM_002618.4(PEX13):c.914-8T>G | 5194 | PEX13 | Likely benign | 769302153 | RCV002179154; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275599 | 61275599 | | | 61275599 | - | | |
NM_002618.4(PEX13):c.914-7C>T | 5194 | PEX13 | Likely benign | -1 | RCV002791749; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275600 | 61275600 | | | NC_000002.11:g.61275600C>T | - | | |
NM_002618.4(PEX13):c.914-6C>T | 5194 | PEX13 | Likely benign | 2104814454 | RCV002192927; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275601 | 61275601 | | | 61275601 | - | | |
NM_002618.4(PEX13):c.914-5A>G | 5194 | PEX13 | Likely benign | 374011561 | RCV002131541; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275602 | 61275602 | | | 61275602 | - | | |
NM_002618.4(PEX13):c.914-4T>A | 5194 | PEX13 | Likely benign | 774237731 | RCV000921129; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275603 | 61275603 | | | 2:g.61275603T>A | - | | |
NM_002618.4(PEX13):c.931C>T (p.Arg311Cys) | 5194 | PEX13 | Uncertain significance | 376720470 | RCV001137561; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275624 | 61275624 | | | 2:g.61275624C>T | - | | |
NM_002618.4(PEX13):c.932G>A (p.Arg311His) | 5194 | PEX13 | Uncertain significance | 147344836 | RCV001137562; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275625 | 61275625 | | | 2:g.61275625G>A | - | | |
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter) | 5194 | PEX13 | Uncertain significance | 1428782325 | RCV001237439; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275632 | 61275632 | | | 2:g.61275632G>A | - | | |
NM_002618.4(PEX13):c.955G>C (p.Asp319His) | 5194 | PEX13 | Uncertain significance | -1 | RCV002991488; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275648 | 61275648 | | | NC_000002.11:g.61275648G>C | - | | |
NM_002618.4(PEX13):c.957T>C (p.Asp319=) | 5194 | PEX13 | Likely benign | -1 | RCV002820828; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275650 | 61275650 | | | | - | | |
NM_002618.4(PEX13):c.961C>G (p.Gln321Glu) | 5194 | PEX13 | Uncertain significance | 765658938 | RCV001307891; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275654 | 61275654 | | | 61275654 | - | | |
NM_002618.4(PEX13):c.965C>T (p.Thr322Ile) | 5194 | PEX13 | Uncertain significance | 920607306 | RCV001880932; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275658 | 61275658 | | | 61275658 | - | | |
NM_002618.4(PEX13):c.967A>C (p.Thr323Pro) | 5194 | PEX13 | Uncertain significance | 753122073 | RCV001900440; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275660 | 61275660 | | | 61275660 | - | | |
NM_002618.4(PEX13):c.968C>T (p.Thr323Ile) | 5194 | PEX13 | Uncertain significance | 1559047077 | RCV001050365; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275661 | 61275661 | | | 2:g.61275661C>T | - | | |
NM_002618.4(PEX13):c.969A>G (p.Thr323=) | 5194 | PEX13 | Likely benign | -1 | RCV002625788; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275662 | 61275662 | | | | - | | |
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 61752115 | RCV000008143|RCV001851730|RCV002269257; | N | MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MedGen:CN517202 | 2 | 61275670 | 61275670 | | | 2:g.61275670T>C | ClinGen:CA119011,UniProtKB:Q92968#VAR_009306,OMIM:601789.0002 | C3554001 614885 Peroxisome biogenesis disorder 11B; | |
NM_002618.4(PEX13):c.978A>G (p.Ile326Met) | 5194 | PEX13 | Uncertain significance | 1680745437 | RCV001243930; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275671 | 61275671 | | | 2:g.61275671A>G | - | | |
NM_002618.4(PEX13):c.980C>T (p.Pro327Leu) | 5194 | PEX13 | Uncertain significance | 1680745521 | RCV001137563; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275673 | 61275673 | | | 2:g.61275673C>T | - | | |
NM_002618.4(PEX13):c.984G>A (p.Ala328=) | 5194 | PEX13 | Likely benign | 144086063 | RCV001467799; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275677 | 61275677 | | | 61275677 | - | | |
NM_002618.4(PEX13):c.984G>T (p.Ala328=) | 5194 | PEX13 | Likely benign | 144086063 | RCV002160414; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275677 | 61275677 | | | 61275677 | - | | |
NM_002618.4(PEX13):c.995A>G (p.Lys332Arg) | 5194 | PEX13 | Uncertain significance | 1234870387 | RCV001987707|RCV002562952; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61275688 | 61275688 | | | 61275688 | - | | |
NM_002618.4(PEX13):c.999T>C (p.Ile333=) | 5194 | PEX13 | Likely benign | 750110664 | RCV002135787; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275692 | 61275692 | | | 61275692 | - | | |
NM_002618.4(PEX13):c.1000C>A (p.Leu334Ile) | 5194 | PEX13 | Uncertain significance | 149581494 | RCV001878610; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275693 | 61275693 | | | 61275693 | - | | |
NM_002618.4(PEX13):c.1003G>A (p.Gly335Ser) | 5194 | PEX13 | Uncertain significance | 1680746099 | RCV001247027; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275696 | 61275696 | | | 2:g.61275696G>A | - | | |
NM_002618.4(PEX13):c.1003G>C (p.Gly335Arg) | 5194 | PEX13 | Uncertain significance | 1680746099 | RCV001958328; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275696 | 61275696 | | | 61275696 | - | | |
NM_002618.4(PEX13):c.1011A>G (p.Arg337=) | 5194 | PEX13 | Likely benign | 779659827 | RCV002130900; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275704 | 61275704 | | | 61275704 | - | | |
NM_002618.4(PEX13):c.1014A>G (p.Lys338=) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 748712609 | RCV000595198|RCV002065185; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275707 | 61275707 | | | 2:g.61275707A>G | ClinGen:CA1673414 | CN169374 not specified; | |
NM_002618.4(PEX13):c.1019G>C (p.Arg340Thr) | 5194 | PEX13 | Uncertain significance | 755008779 | RCV001926503; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275712 | 61275712 | | | 61275712 | - | | |
NM_002618.4(PEX13):c.1027G>A (p.Val343Met) | 5194 | PEX13 | Uncertain significance | 1680746493 | RCV001338700; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275720 | 61275720 | | | 61275720 | - | | |
NM_002618.4(PEX13):c.1030G>A (p.Glu344Lys) | 5194 | PEX13 | Uncertain significance | 550755703 | RCV001953182|RCV002562841; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61275723 | 61275723 | | | 61275723 | - | | |
NM_002618.4(PEX13):c.1033T>A (p.Ser345Thr) | 5194 | PEX13 | Uncertain significance | 2104814598 | RCV001881607; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275726 | 61275726 | | | 61275726 | - | | |
NM_002618.4(PEX13):c.1037G>A (p.Ser346Asn) | 5194 | PEX13 | Uncertain significance | -1 | RCV002958188; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275730 | 61275730 | | | NC_000002.11:g.61275730G>A | - | | |
NM_002618.4(PEX13):c.1040A>G (p.Lys347Arg) | 5194 | PEX13 | Uncertain significance | 2104814606 | RCV002012070; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275733 | 61275733 | | | 61275733 | - | | |
NM_002618.4(PEX13):c.1042G>C (p.Val348Leu) | 5194 | PEX13 | Uncertain significance | 1680746855 | RCV001223609; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275735 | 61275735 | | | 2:g.61275735G>C | - | | |
NM_002618.4(PEX13):c.1042G>A (p.Val348Ile) | 5194 | PEX13 | Uncertain significance | -1 | RCV003045289; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275735 | 61275735 | | | NC_000002.11:g.61275735G>A | - | | |
NM_002618.4(PEX13):c.1044T>C (p.Val348=) | 5194 | PEX13 | Benign/Likely benign | 151304822 | RCV000276638|RCV000884834; | N | MedGen:CN169374|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275737 | 61275737 | | | 2:g.61275737T>C | ClinGen:CA1673419 | CN169374 not specified; | |
NM_002618.4(PEX13):c.1045T>C (p.Ser349Pro) | 5194 | PEX13 | Uncertain significance | 747286284 | RCV001895400; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275738 | 61275738 | | | 61275738 | - | | |
NM_002618.4(PEX13):c.1046C>T (p.Ser349Phe) | 5194 | PEX13 | Uncertain significance | 1367527916 | RCV001938207; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275739 | 61275739 | | | 61275739 | - | | |
NM_002618.4(PEX13):c.1049A>G (p.Lys350Arg) | 5194 | PEX13 | Uncertain significance | 1052212655 | RCV001983674; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275742 | 61275742 | | | 61275742 | - | | |
NM_002618.4(PEX13):c.1052A>G (p.Gln351Arg) | 5194 | PEX13 | Uncertain significance | -1 | RCV003048166; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275745 | 61275745 | | | NC_000002.11:g.61275745A>G | - | | |
NM_002618.4(PEX13):c.1053G>C (p.Gln351His) | 5194 | PEX13 | Uncertain significance | 759524829 | RCV001900694|RCV002552152; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61275746 | 61275746 | | | 61275746 | - | | |
NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg) | 5194 | PEX13 | Uncertain significance | 755510406 | RCV001246445; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275751 | 61275751 | | | 2:g.61275751A>G | - | | |
NM_002618.4(PEX13):c.1058A>T (p.Gln353Leu) | 5194 | PEX13 | Uncertain significance | -1 | RCV002816489; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275751 | 61275751 | | | NC_000002.11:g.61275751A>T | - | | |
NM_002618.4(PEX13):c.1059A>G (p.Gln353=) | 5194 | PEX13 | Likely benign | 892266553 | RCV002133623; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275752 | 61275752 | | | 61275752 | - | | |
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser) | 5194 | PEX13 | Uncertain significance | 144300539 | RCV001137564; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275763 | 61275763 | | | 2:g.61275763A>G | - | | |
NM_002618.4(PEX13):c.1071C>G (p.Asn357Lys) | 5194 | PEX13 | Uncertain significance | 1371570388 | RCV001304446; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275764 | 61275764 | | | 61275764 | - | | |
NM_002618.4(PEX13):c.1071C>T (p.Asn357=) | 5194 | PEX13 | Likely benign | -1 | RCV003049298; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275764 | 61275764 | | | | - | | |
NM_002618.4(PEX13):c.1075A>G (p.Thr359Ala) | 5194 | PEX13 | Uncertain significance | -1 | RCV002575036|RCV003164765; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61275768 | 61275768 | | | NC_000002.11:g.61275768A>G | - | | |
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) | 5194 | PEX13 | Benign/Likely benign | 74350038 | RCV000548411|RCV001547133; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MedGen:C3661900 | 2 | 61275771 | 61275771 | | | NC_000002.11:g.61275771C>G | ClinGen:CA1673426 | C3554000 614883 Peroxisome biogenesis disorder 11A; | |
NM_002618.4(PEX13):c.1080A>G (p.Leu360=) | 5194 | PEX13 | Likely benign | 2104814664 | RCV002107120; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275773 | 61275773 | | | 61275773 | - | | |
NM_002618.4(PEX13):c.1083T>G (p.Thr361=) | 5194 | PEX13 | Likely benign | 2104814667 | RCV001401604; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275776 | 61275776 | | | 61275776 | - | | |
NM_002618.4(PEX13):c.1084A>G (p.Lys362Glu) | 5194 | PEX13 | Uncertain significance | -1 | RCV002631681; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275777 | 61275777 | | | NC_000002.11:g.61275777A>G | - | | |
NM_002618.4(PEX13):c.1088G>A (p.Gly363Glu) | 5194 | PEX13 | Uncertain significance | -1 | RCV002569495; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275781 | 61275781 | | | NC_000002.11:g.61275781G>A | - | | |
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser) | 5194 | PEX13 | Benign | 550344775 | RCV001518966; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275783 | 61275783 | | | 2:g.61275783G>T | - | | |
NM_002618.4(PEX13):c.1090G>A (p.Ala364Thr) | 5194 | PEX13 | Uncertain significance | 550344775 | RCV001048539|RCV002552644; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61275783 | 61275783 | | | 2:g.61275783G>A | - | | |
NM_002618.4(PEX13):c.1093A>G (p.Thr365Ala) | 5194 | PEX13 | Uncertain significance | 753444647 | RCV001035047; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275786 | 61275786 | | | 2:g.61275786A>G | - | | |
NM_002618.4(PEX13):c.1094C>T (p.Thr365Met) | 5194 | PEX13 | Uncertain significance | 769398640 | RCV001993045; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275787 | 61275787 | | | 61275787 | - | | |
NM_002618.4(PEX13):c.1095G>A (p.Thr365=) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 754460647 | RCV000731585|RCV002067123; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275788 | 61275788 | | | NC_000002.11:g.61275788G>A | - | | |
NM_002618.4(PEX13):c.1097T>C (p.Val366Ala) | 5194 | PEX13 | Uncertain significance | 1441442802 | RCV001900595; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275790 | 61275790 | | | 61275790 | - | | |
NM_002618.4(PEX13):c.1104T>C (p.Asp368=) | 5194 | PEX13 | Likely benign | -1 | RCV003118920|RCV003434696; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MedGen:C3661900 | 2 | 61275797 | 61275797 | | | | - | | |
NM_002618.4(PEX13):c.1127C>A (p.Ala376Asp) | 5194 | PEX13 | Uncertain significance | 1412376429 | RCV001340569; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275820 | 61275820 | | | 61275820 | - | | |
NM_002618.4(PEX13):c.1132G>A (p.Glu378Lys) | 5194 | PEX13 | Uncertain significance | 1167111884 | RCV001368872|RCV003246958; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MeSH:D030342,MedGen:C0950123 | 2 | 61275825 | 61275825 | | | 61275825 | - | | |
NM_002618.4(PEX13):c.1132G>C (p.Glu378Gln) | 5194 | PEX13 | Uncertain significance | 1167111884 | RCV001986692; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275825 | 61275825 | | | 61275825 | - | | |
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe) | 5194 | PEX13 | Uncertain significance | 758388660 | RCV000728267|RCV001139793; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275829 | 61275829 | | | NC_000002.11:g.61275829C>T | - | | |
NM_002618.4(PEX13):c.1138G>T (p.Val380Phe) | 5194 | PEX13 | Uncertain significance | -1 | RCV002303501; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275831 | 61275831 | | | 61275831 | - | | |
NM_002618.4(PEX13):c.1143T>A (p.Phe381Leu) | 5194 | PEX13 | Uncertain significance | 1680750260 | RCV001990789; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275836 | 61275836 | | | 61275836 | - | | |
NM_002618.4(PEX13):c.1144G>C (p.Val382Leu) | 5194 | PEX13 | Uncertain significance | 886044219 | RCV000260183|RCV001859701; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275837 | 61275837 | | | 2:g.61275837G>C | ClinGen:CA10606494 | CN169374 not specified; | |
NM_002618.4(PEX13):c.1149A>G (p.Glu383=) | 5194 | PEX13 | Uncertain significance | 2104814749 | RCV001942396; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275842 | 61275842 | | | 61275842 | - | | |
NM_002618.4(PEX13):c.1151C>G (p.Thr384Ser) | 5194 | PEX13 | Uncertain significance | 1680750357 | RCV001229597; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275844 | 61275844 | | | 2:g.61275844C>G | - | | |
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 371789976 | RCV000396571; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275851 | 61275851 | | | NC_000002.11:g.61275851G>A | ClinGen:CA1673440 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.1158G>C (p.Lys386Asn) | 5194 | PEX13 | Uncertain significance | 371789976 | RCV001887503; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275851 | 61275851 | | | 61275851 | - | | |
NM_002618.4(PEX13):c.1159G>A (p.Val387Ile) | 5194 | PEX13 | Uncertain significance | -1 | RCV002642570; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275852 | 61275852 | | | NC_000002.11:g.61275852G>A | - | | |
NM_002618.4(PEX13):c.1163C>T (p.Pro388Leu) | 5194 | PEX13 | Uncertain significance | 1203618499 | RCV000596707|RCV001055481; | N | MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275856 | 61275856 | | | 2:g.61275856C>T | ClinGen:CA346950290 | CN169374 not specified; | |
NM_002618.4(PEX13):c.1169C>T (p.Ala390Val) | 5194 | PEX13 | Uncertain significance | -1 | RCV002303466; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275862 | 61275862 | | | 61275862 | - | | |
NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe) | 5194 | PEX13 | Uncertain significance | 376560254 | RCV000698024; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275873 | 61275873 | | | NC_000002.11:g.61275873A>T | - | C3554000 614883 Peroxisome biogenesis disorder 11A; | |
NM_002618.4(PEX13):c.1180A>G (p.Ile394Val) | 5194 | PEX13 | Uncertain significance | -1 | RCV003076501; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275873 | 61275873 | | | NC_000002.11:g.61275873A>G | - | | |
NM_002618.4(PEX13):c.1183G>A (p.Gly395Arg) | 5194 | PEX13 | Uncertain significance | 1337201612 | RCV001306407; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275876 | 61275876 | | | 61275876 | - | | |
NM_002618.4(PEX13):c.1186A>G (p.Lys396Glu) | 5194 | PEX13 | Uncertain significance | 749088744 | RCV001965316; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275879 | 61275879 | | | 61275879 | - | | |
NM_002618.4(PEX13):c.1188A>G (p.Lys396=) | 5194 | PEX13 | Likely benign | -1 | RCV003015187; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275881 | 61275881 | | | | - | | |
NM_002618.4(PEX13):c.1193G>A (p.Gly398Glu) | 5194 | PEX13 | Uncertain significance | 1680751404 | RCV001228933; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275886 | 61275886 | | | 2:g.61275886G>A | - | | |
NM_002618.4(PEX13):c.1199A>T (p.Lys400Met) | 5194 | PEX13 | Uncertain significance | -1 | RCV002829672; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275892 | 61275892 | | | NC_000002.11:g.61275892A>T | - | | |
NM_002618.4(PEX13):c.1203A>G (p.Gln401=) | 5194 | PEX13 | Likely benign | 2104814800 | RCV002114544; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275896 | 61275896 | | | 61275896 | - | | |
NM_002618.4(PEX13):c.1205A>G (p.Asp402Gly) | 5194 | PEX13 | Uncertain significance | -1 | RCV002461643|RCV003103106; | N | MedGen:CN517202|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275898 | 61275898 | | | NC_000002.11:g.61275898A>G | - | | |
NM_002618.4(PEX13):c.*90A>G | 5194 | PEX13 | Uncertain significance | 535967834 | RCV000304355; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61275995 | 61275995 | | | NC_000002.11:g.61275995A>G | ClinGen:CA10615632 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*170C>G | 5194 | PEX13 | Uncertain significance | 77041272 | RCV001139794; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276075 | 61276075 | | | 2:g.61276075C>G | - | | |
NM_002618.4(PEX13):c.*216T>C | 5194 | PEX13 | Uncertain significance | 146980377 | RCV000342902; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276121 | 61276121 | | | NC_000002.11:g.61276121T>C | ClinGen:CA10614213 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*233G>T | 5194 | PEX13 | Uncertain significance | 886056198 | RCV000396598; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276138 | 61276138 | | | NC_000002.11:g.61276138G>T | ClinGen:CA10614224 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*263A>T | 5194 | PEX13 | Uncertain significance | 558525565 | RCV000304499; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276168 | 61276168 | | | NC_000002.11:g.61276168A>T | ClinGen:CA10614225 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*298G>C | 5194 | PEX13 | Uncertain significance | 886056199 | RCV000359233; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276203 | 61276203 | | | NC_000002.11:g.61276203G>C | ClinGen:CA10614226 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*318G>C | 5194 | PEX13 | Uncertain significance | 1573562372 | RCV001140561; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276223 | 61276223 | | | 2:g.61276223G>C | - | | |
NM_002618.4(PEX13):c.*357T>C | 5194 | PEX13 | Uncertain significance | 138236564 | RCV001140562; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276262 | 61276262 | | | 2:g.61276262T>C | - | | |
NM_002618.4(PEX13):c.*358G>A | 5194 | PEX13 | Benign | 1177230 | RCV000399354; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276263 | 61276263 | | | NC_000002.11:g.61276263G>A | ClinGen:CA10614227 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*383A>T | 5194 | PEX13 | Uncertain significance | 149099359 | RCV000310172; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276288 | 61276288 | | | NC_000002.11:g.61276288A>T | ClinGen:CA10615635 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*436T>C | 5194 | PEX13 | Uncertain significance | 1680757708 | RCV001140563; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276341 | 61276341 | | | 2:g.61276341T>C | - | | |
NM_002618.4(PEX13):c.*446A>G | 5194 | PEX13 | Uncertain significance | 554737021 | RCV001140564; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276351 | 61276351 | | | 2:g.61276351A>G | - | | |
NM_002618.4(PEX13):c.*676A>G | 5194 | PEX13 | Uncertain significance | 886056200 | RCV000270177; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276581 | 61276581 | | | NC_000002.11:g.61276581A>G | ClinGen:CA10614230 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*775G>A | 5194 | PEX13 | Benign | 143032208 | RCV000325206; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276680 | 61276680 | | | NC_000002.11:g.61276680G>A | ClinGen:CA10615645 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*803A>G | 5194 | PEX13 | Uncertain significance | 561112537 | RCV000370652; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276708 | 61276708 | | | NC_000002.11:g.61276708A>G | ClinGen:CA10613719 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*813G>C | 5194 | PEX13 | Uncertain significance | 781689721 | RCV000276103; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276718 | 61276718 | | | NC_000002.11:g.61276718G>C | ClinGen:CA10615649 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*851A>G | 5194 | PEX13 | Uncertain significance | 917019488 | RCV001142419; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276756 | 61276756 | | | 2:g.61276756A>G | - | | |
NM_002618.4(PEX13):c.*895C>T | 5194 | PEX13 | Uncertain significance | 979509871 | RCV001142420; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276800 | 61276800 | | | 2:g.61276800C>T | - | | |
NM_002618.4(PEX13):c.*944C>T | 5194 | PEX13 | Likely benign | 148184159 | RCV000330919; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276849 | 61276849 | | | 2:g.61276849C>T | ClinGen:CA10614231 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*952C>T | 5194 | PEX13 | Benign | 56739127 | RCV000385469; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276857 | 61276857 | | | 2:g.61276857C>T | ClinGen:CA10615902 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*953G>A | 5194 | PEX13 | Uncertain significance | 1339051481 | RCV001137666; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276858 | 61276858 | | | 2:g.61276858G>A | - | | |
NM_002618.4(PEX13):c.*956G>T | 5194 | PEX13 | Uncertain significance | 141215166 | RCV000281617; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276861 | 61276861 | | | 2:g.61276861G>T | ClinGen:CA10613723 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*962G>A | 5194 | PEX13 | Uncertain significance | 931059778 | RCV001137667; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276867 | 61276867 | | | 2:g.61276867G>A | - | | |
NM_002618.4(PEX13):c.*1005C>A | 5194 | PEX13 | Uncertain significance | 375607663 | RCV001137668; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61276910 | 61276910 | | | 2:g.61276910C>A | - | | |
NM_002618.4(PEX13):c.*1174A>T | 5194 | PEX13 | Uncertain significance | 182453488 | RCV001137669; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277079 | 61277079 | | | 2:g.61277079A>T | - | | |
NM_002618.4(PEX13):c.*1194G>A | 5194 | PEX13 | Benign | 75205376 | RCV000317941; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277099 | 61277099 | | | 2:g.61277099G>A | ClinGen:CA10613725 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*1283C>G | 5194 | PEX13 | Uncertain significance | 886056201 | RCV000372842; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277188 | 61277188 | | | 2:g.61277188C>G | ClinGen:CA10614234 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*1376C>T | 5194 | PEX13 | Uncertain significance | 927046080 | RCV001137670; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277281 | 61277281 | | | 2:g.61277281C>T | - | | |
NM_002618.4(PEX13):c.*1377G>A | 5194 | PEX13 | Uncertain significance | 536283006 | RCV000278296; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277282 | 61277282 | | | 2:g.61277282G>A | ClinGen:CA10615653 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*1416G>T | 5194 | PEX13 | Uncertain significance | 573040186 | RCV001139890; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277321 | 61277321 | | | 2:g.61277321G>T | - | | |
NM_002618.4(PEX13):c.*1480C>G | 5194 | PEX13 | Uncertain significance | 1680773967 | RCV001139891; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277385 | 61277385 | | | 2:g.61277385C>G | - | | |
NM_002618.4(PEX13):c.*1533G>C | 5194 | PEX13 | Uncertain significance | 886056202 | RCV000342537; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277438 | 61277438 | | | 2:g.61277438G>C | ClinGen:CA10615674 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*1564C>G | 5194 | PEX13 | Uncertain significance | 886056203 | RCV000404385; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277469 | 61277469 | | | 2:g.61277469C>G | ClinGen:CA10615676 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*1566A>T | 5194 | PEX13 | Uncertain significance | 886056204 | RCV000283663; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277471 | 61277471 | | | 2:g.61277471A>T | ClinGen:CA10615680 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*1649C>T | 5194 | PEX13 | Uncertain significance | 1042646135 | RCV001139892; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277554 | 61277554 | | | 2:g.61277554C>T | - | | |
NM_002618.4(PEX13):c.*1652G>A | 5194 | PEX13 | Benign | 72877535 | RCV000347981; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277557 | 61277557 | | | 2:g.61277557G>A | ClinGen:CA10613727 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*1654T>G | 5194 | PEX13 | Uncertain significance | 1680777877 | RCV001140663; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277559 | 61277559 | | | 2:g.61277559T>G | - | | |
NM_002618.4(PEX13):c.*1724A>T | 5194 | PEX13 | Likely benign | 137932203 | RCV000395743; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277629 | 61277629 | | | 2:g.61277629A>T | ClinGen:CA10614235 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*1925C>T | 5194 | PEX13 | Uncertain significance | 1050392536 | RCV001140664; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277830 | 61277830 | | | 2:g.61277830C>T | - | | |
NM_002618.4(PEX13):c.*1943G>A | 5194 | PEX13 | Benign | 183689971 | RCV000363139; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277848 | 61277848 | | | 2:g.61277848G>A | ClinGen:CA10613732 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*1961T>C | 5194 | PEX13 | Uncertain significance | 771587917 | RCV000399892; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277866 | 61277866 | | | 2:g.61277866T>C | ClinGen:CA10614236 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*1998T>C | 5194 | PEX13 | Uncertain significance | 559684247 | RCV000313857; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61277903 | 61277903 | | | 2:g.61277903T>C | ClinGen:CA10613737 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*2111A>C | 5194 | PEX13 | Uncertain significance | 1680786136 | RCV001140665; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278016 | 61278016 | | | 2:g.61278016A>C | - | | |
NM_002618.4(PEX13):c.*2147A>G | 5194 | PEX13 | Benign | 2564097 | RCV000368512; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278052 | 61278052 | | | 2:g.61278052A>G | ClinGen:CA10615681 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*2159T>C | 5194 | PEX13 | Uncertain significance | 886056206 | RCV000274443; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278064 | 61278064 | | | 2:g.61278064T>C | ClinGen:CA10614237 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*2168A>T | 5194 | PEX13 | Uncertain significance | 886056207 | RCV000320192; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278073 | 61278073 | | | 2:g.61278073A>T | ClinGen:CA10613739 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*2229C>T | 5194 | PEX13 | Uncertain significance | 1048932355 | RCV001142546; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278134 | 61278134 | | | 2:g.61278134C>T | - | | |
NM_002618.4(PEX13):c.*2234A>G | 5194 | PEX13 | Uncertain significance | 1358607905 | RCV001142547; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278139 | 61278139 | | | 2:g.61278139A>G | - | | |
NM_002618.4(PEX13):c.*2236A>C | 5194 | PEX13 | Uncertain significance | 146108177 | RCV001142548; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278141 | 61278141 | | | 2:g.61278141A>C | - | | |
NM_002618.4(PEX13):c.*2296G>A | 5194 | PEX13 | Uncertain significance | 886056208 | RCV000356198; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278201 | 61278201 | | | 2:g.61278201G>A | ClinGen:CA10615903 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*2356T>C | 5194 | PEX13 | Conflicting interpretations of pathogenicity | 139999174 | RCV000261484|RCV003437072; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912|MedGen:C3661900 | 2 | 61278261 | 61278261 | | | 2:g.61278261T>C | ClinGen:CA10615906 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*2368T>C | 5194 | PEX13 | Uncertain significance | 1033146733 | RCV001137785; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278273 | 61278273 | | | 2:g.61278273T>C | - | | |
NM_002618.4(PEX13):c.*2422T>G | 5194 | PEX13 | Uncertain significance | 958254103 | RCV001137786; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278327 | 61278327 | | | 2:g.61278327T>G | - | | |
NM_002618.4(PEX13):c.*2495A>T | 5194 | PEX13 | Uncertain significance | 777198802 | RCV001137787; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278400 | 61278400 | | | 2:g.61278400A>T | - | | |
NM_002618.4(PEX13):c.*2537T>C | 5194 | PEX13 | Uncertain significance | 1680795269 | RCV001137788; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278442 | 61278442 | | | 2:g.61278442T>C | - | | |
NM_002618.4(PEX13):c.*2550G>A | 5194 | PEX13 | Uncertain significance | 544817238 | RCV001137789; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278455 | 61278455 | | | 2:g.61278455G>A | - | | |
NM_002618.4(PEX13):c.*2581A>T | 5194 | PEX13 | Uncertain significance | 895620341 | RCV001137790; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278486 | 61278486 | | | 2:g.61278486A>T | - | | |
NM_002618.4(PEX13):c.*2642T>C | 5194 | PEX13 | Uncertain significance | 886056209 | RCV000316538; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278547 | 61278547 | | | 2:g.61278547T>C | ClinGen:CA10614238 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*2749C>G | 5194 | PEX13 | Uncertain significance | 888853893 | RCV001137791; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278654 | 61278654 | | | 2:g.61278654C>G | - | | |
NM_002618.4(PEX13):c.*2918A>G | 5194 | PEX13 | Uncertain significance | 1680801956 | RCV001140027; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278823 | 61278823 | | | 2:g.61278823A>G | - | | |
NM_002618.4(PEX13):c.*3012A>G | 5194 | PEX13 | Likely benign | 144691386 | RCV000286058; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278917 | 61278917 | | | NC_000002.11:g.61278917A>G | ClinGen:CA10614239 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*3038A>T | 5194 | PEX13 | Uncertain significance | 886056211 | RCV000322400; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278943 | 61278943 | | | NC_000002.11:g.61278943A>T | ClinGen:CA10614240 | C0043459 214100 Zellweger syndrome; | |
NM_002618.4(PEX13):c.*3050C>T | 5194 | PEX13 | Uncertain significance | 1246216348 | RCV001140028; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61278955 | 61278955 | | | 2:g.61278955C>T | - | | |
NM_002618.4(PEX13):c.*3106T>C | 5194 | PEX13 | Uncertain significance | 148515938 | RCV001140029; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61279011 | 61279011 | | | 2:g.61279011T>C | - | | |
NM_002618.4(PEX13):c.*3126A>G | 5194 | PEX13 | Uncertain significance | 745626475 | RCV001140030; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61279031 | 61279031 | | | 2:g.61279031A>G | - | | |
NM_002618.4(PEX13):c.*3216C>G | 5194 | PEX13 | Uncertain significance | 780132052 | RCV001140031; | N | MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912 | 2 | 61279121 | 61279121 | | | 2:g.61279121C>G | - | | |