Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001182.5(ALDH7A1):c.1480G>C (p.Gly494Arg) | 501 | ALDH7A1 | Uncertain significance | -1 | RCV002284143; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 5 | 125885630 | 125885630 | | | 125885630 | - | | |
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser) | 501 | ALDH7A1 | Conflicting interpretations of pathogenicity | 1045606047 | RCV002248965|RCV002283583; | N | MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100, Orphanet:3006|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 5 | 125890068 | 125890068 | | | 125890068 | - | | |
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser) | 79868 | ALG13 | Conflicting interpretations of pathogenicity | 753556936 | RCV000714743|RCV001521268; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884, Orphanet:324422 | X | 110954948 | 110954948 | | | NC_000023.10:g.110954948C>T | - | | |
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) | 79868 | ALG13 | Likely benign | 199505558 | RCV000613209|RCV000650339|RCV002508941; | N | MedGen:CN169374|MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884, Orphanet:324422|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0015286,MedGen:C0282577, Orphanet:137 | X | 110970138 | 110970138 | | | X:g.110970138C>T | ClinGen:CA10493772 | C3550904 300884 Epileptic encephalopathy, early infantile, 36; | |
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) | 23229 | ARHGEF9 | Conflicting interpretations of pathogenicity | 2048831313 | RCV001267081|RCV001587309|RCV001824943|RCV002298921; | N | MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010375,MedGen:C1845102,OMIM:300607, Orphanet:163985, Orphanet:2076 | X | 62875580 | 62875580 | | | X:g.62875580C>T | - | | |
NM_001353921.2(ARHGEF9):c.1107_1108insT (p.Lys370Ter) | 23229 | ARHGEF9 | not provided | 2147218877 | RCV001825308; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 62875587 | 62875588 | | | 62875587 | - | | |
NC_000023.10:g.(?_24483573)_(25033854_?)del | 170302 | ARX | Pathogenic | -1 | RCV003123114; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 24483573 | 25033854 | | | | - | | |
NC_000023.10:g.(?_24512839)_(25033854_?)dup | 170302 | ARX | Uncertain significance | -1 | RCV003123115; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 24512839 | 25033854 | | | | - | | |
NC_000023.10:g.(?_24544305)_(25025566_?)dup | 170302 | ARX | Uncertain significance | -1 | RCV001967987; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 24544305 | 25025566 | | | -1 | - | | |
NC_000023.10:g.(?_25013922)_(25025556_?)dup | 170302 | ARX | Uncertain significance | -1 | RCV000796785; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25013922 | 25025556 | | | | - | | |
NM_139058.3(ARX):c.1449-816_*460del | 170302 | ARX | Pathogenic | -1 | RCV000011940; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022327 | 25023843 | | | 25022326 | OMIM:300382.0004 | | |
NC_000023.10:g.(?_25022767)_(25033874_?)dup | 170302 | ARX | Uncertain significance | -1 | RCV000650193; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022767 | 25033874 | | | | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg) | 170302 | ARX | Uncertain significance | 2048668859 | RCV001262666; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022792 | 25022792 | | | X:g.25022792A>G | - | | |
NM_139058.3(ARX):c.1677G>A (p.Lys559=) | 170302 | ARX | Likely benign | 2147318581 | RCV001403994; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022799 | 25022799 | | | 25022799 | - | | |
NM_139058.3(ARX):c.1674C>A (p.Gly558=) | 170302 | ARX | Likely benign | 888094094 | RCV001423007; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022802 | 25022802 | | | X:g.25022802G>T | - | | |
NM_139058.3(ARX):c.1671G>A (p.Thr557=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 190910161 | RCV000082603|RCV000415758|RCV000532975|RCV002313831; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25022805 | 25022805 | | | X:g.25022805C>T | ClinGen:CA149541 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1668C>T (p.Ser556=) | 170302 | ARX | Likely benign | 1281833018 | RCV000705401|RCV000842306; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | X | 25022808 | 25022808 | | | NC_000023.10:g.25022808G>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1621G>T (p.Glu541Ter) | 170302 | ARX | Uncertain significance | 938274319 | RCV002009407; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022855 | 25022855 | | | 25022855 | - | | |
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs) | 170302 | ARX | Likely pathogenic | 1601945599 | RCV000990552|RCV002249595; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508 | X | 25022856 | 25022883 | | | X:g.25022856_25022883del | - | | |
NM_139058.3(ARX):c.1618A>G (p.Lys540Glu) | 170302 | ARX | Uncertain significance | 2048669310 | RCV001315467; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022858 | 25022858 | | | 25022858 | - | | |
NM_139058.3(ARX):c.1616C>T (p.Ala539Val) | 170302 | ARX | Uncertain significance | 2048669327 | RCV001225881; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022860 | 25022860 | | | X:g.25022860G>A | - | | |
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr) | 170302 | ARX | Likely pathogenic | 2147318633 | RCV002023895; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022861 | 25022861 | | | 25022861 | - | | |
NM_139058.3(ARX):c.1611C>G (p.Leu537=) | 170302 | ARX | Likely benign | -1 | RCV002727352; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022865 | 25022865 | | | | - | | |
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro) | 170302 | ARX | Uncertain significance | -1 | RCV002510624; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022866 | 25022866 | | | NC_000023.10:g.25022866A>G | - | | |
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr) | 170302 | ARX | Likely pathogenic | 2048669411 | RCV001089499|RCV002505668; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | X | 25022869 | 25022869 | | | X:g.25022869C>G | - | | |
NM_139058.3(ARX):c.1605G>C (p.Leu535=) | 170302 | ARX | Likely benign | 1480681695 | RCV000762614|RCV002067205; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022871 | 25022871 | | | NC_000023.10:g.25022871C>G | - | | |
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) | 170302 | ARX | Pathogenic | 387906715 | RCV000022857; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022872 | 25022872 | | | X:g.25022872A>T | ClinGen:CA128802,OMIM:300382.0024 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro) | 170302 | ARX | Likely pathogenic | -1 | RCV003050594; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022876 | 25022876 | | | NC_000023.10:g.25022876C>G | - | | |
NM_139058.3(ARX):c.1599C>G (p.Ala533=) | 170302 | ARX | Benign/Likely benign | 1057523196 | RCV000868394|RCV001712817|RCV002399914; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | X | 25022877 | 25022877 | | | X:g.25022877G>C | - | | |
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys) | 170302 | ARX | Uncertain significance | 2048669628 | RCV001089719; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022887 | 25022887 | | | X:g.25022887G>C | - | | |
NM_139058.3(ARX):c.1587C>T (p.Ala529=) | 170302 | ARX | Likely benign | 1601945617 | RCV001401526; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022889 | 25022889 | | | X:g.25022889G>A | - | | |
NM_139058.3(ARX):c.1587C>G (p.Ala529=) | 170302 | ARX | Likely benign | -1 | RCV003016127; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022889 | 25022889 | | | | - | | |
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter) | 170302 | ARX | Pathogenic | 1601945626 | RCV000821543; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022897 | 25022897 | | | X:g.25022897T>A | - | | |
NM_139058.3(ARX):c.1575A>T (p.Ala525=) | 170302 | ARX | Likely benign | -1 | RCV002606490; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022901 | 25022901 | | | | - | | |
NM_139058.3(ARX):c.1572C>T (p.Ala524=) | 170302 | ARX | Likely benign | 1601945631 | RCV000867328|RCV001472314; | N | MedGen:CN517202|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022904 | 25022904 | | | X:g.25022904G>A | - | | |
NM_139058.3(ARX):c.1569G>C (p.Ala523=) | 170302 | ARX | Likely benign | 1601945635 | RCV001506335; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022907 | 25022907 | | | X:g.25022907C>G | - | | |
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) | 170302 | ARX | Uncertain significance | 746120093 | RCV000193135|RCV000624792|RCV001046771|RCV001249486; | N | MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP | X | 25022915 | 25022915 | | | X:g.25022915C>T | ClinGen:CA206413,UniProtKB:Q96QS3#VAR_033263 | C0950123 Inborn genetic diseases; | |
NM_139058.3(ARX):c.1520_1560del (p.Ala507fs) | 170302 | ARX | Uncertain significance | 1569393457 | RCV000695939; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022916 | 25022956 | | | NC_000023.10:g.25022921_25022961del | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs) | 170302 | ARX | Pathogenic | 1601945655 | RCV000794657; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022920 | 25022921 | | | X:g.25022920_25022921insCC | - | | |
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser) | 170302 | ARX | Uncertain significance | 747042039 | RCV001253320|RCV003321816; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | X | 25022930 | 25022930 | | | X:g.25022930C>A | - | | |
NM_139058.3(ARX):c.1546G>C (p.Ala516Pro) | 170302 | ARX | Uncertain significance | 747042039 | RCV002010607; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022930 | 25022930 | | | 25022930 | - | | |
NM_139058.3(ARX):c.1542G>A (p.Ser514=) | 170302 | ARX | Likely benign | 1240255602 | RCV001432114; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022934 | 25022934 | | | 25022934 | - | | |
NM_139058.3(ARX):c.1542G>C (p.Ser514=) | 170302 | ARX | Likely benign | 1240255602 | RCV002217794; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022934 | 25022934 | | | 25022934 | - | | |
NM_139058.3(ARX):c.1541C>G (p.Ser514Trp) | 170302 | ARX | Uncertain significance | 2048670174 | RCV001228805; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022935 | 25022935 | | | X:g.25022935G>C | - | | |
NM_139058.3(ARX):c.1533A>G (p.Ala511=) | 170302 | ARX | Likely benign | 1556046751 | RCV000607392|RCV002529652; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022943 | 25022943 | | | X:g.25022943T>C | ClinGen:CA515748099 | CN169374 not specified; | |
NM_139058.3(ARX):c.1529G>A (p.Gly510Asp) | 170302 | ARX | Uncertain significance | 2048670328 | RCV001233444; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022947 | 25022947 | | | X:g.25022947C>T | - | | |
NM_139058.3(ARX):c.1524G>A (p.Val508=) | 170302 | ARX | Benign | 1056460685 | RCV001518596; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022952 | 25022952 | | | 25022952 | - | | |
NM_139058.3(ARX):c.1522G>A (p.Val508Met) | 170302 | ARX | Uncertain significance | 2048670414 | RCV001253235; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022954 | 25022954 | | | X:g.25022954C>T | - | | |
NM_139058.3(ARX):c.1521C>A (p.Ala507=) | 170302 | ARX | Benign/Likely benign | 777179729 | RCV000607313|RCV000650186; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022955 | 25022955 | | | X:g.25022955G>T | ClinGen:CA10373772 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1518C>G (p.Pro506=) | 170302 | ARX | Likely benign | 1601945679 | RCV001422882; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022958 | 25022958 | | | X:g.25022958G>C | - | | |
NM_139058.3(ARX):c.1515A>G (p.Thr505=) | 170302 | ARX | Likely benign | 398124509 | RCV000558656|RCV001702805|RCV002395453; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | X | 25022961 | 25022961 | | | X:g.25022961T>C | ClinGen:CA10373773 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1503G>A (p.Leu501=) | 170302 | ARX | Likely benign | 2147318758 | RCV001469310; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022973 | 25022973 | | | 25022973 | - | | |
NM_139058.3(ARX):c.1498C>A (p.Leu500Ile) | 170302 | ARX | Uncertain significance | 2147318762 | RCV001996530; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022978 | 25022978 | | | 25022978 | - | | |
NM_139058.3(ARX):c.1497G>C (p.Ala499=) | 170302 | ARX | Likely benign | 770318189 | RCV001405674; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022979 | 25022979 | | | 25022979 | - | | |
NM_139058.3(ARX):c.1497G>A (p.Ala499=) | 170302 | ARX | Likely benign | 770318189 | RCV001435660; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022979 | 25022979 | | | 25022979 | - | | |
NM_139058.3(ARX):c.1497G>T (p.Ala499=) | 170302 | ARX | Likely benign | 770318189 | RCV002079132|RCV002079133; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900 | X | 25022979 | 25022979 | | | 25022979 | - | | |
NM_139058.3(ARX):c.1497del (p.Leu500fs) | 170302 | ARX | Pathogenic | -1 | RCV003030880; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022979 | 25022979 | | | NC_000023.10:g.25022979del | - | | |
NM_139058.3(ARX):c.1496C>T (p.Ala499Val) | 170302 | ARX | Uncertain significance | -1 | RCV003111805; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022980 | 25022980 | | | NC_000023.10:g.25022980G>A | - | | |
NM_139058.3(ARX):c.1495G>C (p.Ala499Pro) | 170302 | ARX | Uncertain significance | 2147318769 | RCV001933696|RCV003222367; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | X | 25022981 | 25022981 | | | 25022981 | - | | |
NM_139058.3(ARX):c.1491G>T (p.Ala497=) | 170302 | ARX | Likely benign | 1021002740 | RCV001396772; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022985 | 25022985 | | | X:g.25022985C>A | - | | |
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro) | 170302 | ARX | Uncertain significance | 1556046847 | RCV000576761; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022987 | 25022987 | | | X:g.25022987C>G | ClinGen:CA412610902 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1488C>T (p.Thr496=) | 170302 | ARX | Likely benign | 773666007 | RCV000865069; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25022988 | 25022988 | | | X:g.25022988G>A | - | | |
NM_139058.3(ARX):c.1479C>T (p.Ser493=) | 170302 | ARX | Likely benign | -1 | RCV003025035; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25022997 | 25022997 | | | | - | | |
NM_139058.3(ARX):c.1475C>G (p.Thr492Ser) | 170302 | ARX | Uncertain significance | 766065019 | RCV001211809|RCV002473222; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | X | 25023001 | 25023001 | | | X:g.25023001G>C | - | | |
NM_139058.3(ARX):c.1473G>C (p.Leu491=) | 170302 | ARX | Likely benign | -1 | RCV002801776; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25023003 | 25023003 | | | | - | | |
NM_139058.3(ARX):c.1472del (p.Leu491fs) | 170302 | ARX | Pathogenic | 2147318790 | RCV001730128; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25023004 | 25023004 | | | 25023003 | - | | |
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer) | 170302 | ARX | Pathogenic | 797045292 | RCV001093393|RCV001230061; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25023005 | 25023005 | | | X:g.25023005_25023005del | - | | |
NM_139058.3(ARX):c.1471C>A (p.Leu491Met) | 170302 | ARX | Conflicting interpretations of pathogenicity | 752807804 | RCV001307820|RCV002393731; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | X | 25023005 | 25023005 | | | 25023005 | - | | |
NM_139058.3(ARX):c.1469C>T (p.Pro490Leu) | 170302 | ARX | Uncertain significance | 2048670837 | RCV001230060; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25023007 | 25023007 | | | X:g.25023007G>A | - | | |
NM_139058.3(ARX):c.1465del (p.Ala489fs) | 170302 | ARX | Pathogenic | 587783191 | RCV000011957|RCV000145047; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452 | X | 25023011 | 25023011 | | | NC_000023.10:g.25023012del | ClinGen:CA213235,OMIM:300382.0021 | | |
NM_139058.3(ARX):c.1463T>C (p.Met488Thr) | 170302 | ARX | Uncertain significance | 759074085 | RCV000522985|RCV001372572; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25023013 | 25023013 | | | X:g.25023013A>G | ClinGen:CA10373779 | CN169374 not specified; | |
NM_139058.3(ARX):c.1462A>G (p.Met488Val) | 170302 | ARX | Conflicting interpretations of pathogenicity | 767404024 | RCV000503084|RCV001214951|RCV001562919|RCV002395212; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | X | 25023014 | 25023014 | | | NC_000023.10:g.25023014T>C | ClinGen:CA10373780 | CN169374 not specified; | |
NM_139058.3(ARX):c.1449-3C>A | 170302 | ARX | Uncertain significance | 1295206345 | RCV001340038; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25023030 | 25023030 | | | 25023030 | - | | |
NM_139058.3(ARX):c.1449-13G>A | 170302 | ARX | Likely benign | -1 | RCV003036057; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25023040 | 25023040 | | | NC_000023.10:g.25023040C>T | - | | |
NM_139058.3(ARX):c.1448+16G>A | 170302 | ARX | Likely benign | -1 | RCV002756672; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025212 | 25025212 | | | NC_000023.10:g.25025212C>T | - | | |
NM_139058.3(ARX):c.1448+15C>T | 170302 | ARX | Likely benign | 2147320273 | RCV002162265; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025213 | 25025213 | | | 25025213 | - | | |
NM_139058.3(ARX):c.1448+14T>C | 170302 | ARX | Likely benign | 1201797048 | RCV002101765; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025214 | 25025214 | | | 25025214 | - | | |
NM_139058.3(ARX):c.1448+10A>G | 170302 | ARX | Likely benign | 774033566 | RCV001405141; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025218 | 25025218 | | | 25025218 | - | | |
NM_139058.3(ARX):c.1448+9C>A | 170302 | ARX | Likely benign | 759009252 | RCV000868379; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025219 | 25025219 | | | X:g.25025219G>T | - | | |
NM_139058.3(ARX):c.1448+7_1448+9del | 170302 | ARX | Likely benign | 2147320285 | RCV001460239; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025219 | 25025221 | | | 25025218 | - | | |
NM_139058.3(ARX):c.1448G>C (p.Arg483Thr) | 170302 | ARX | Uncertain significance | -1 | RCV003040137; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025228 | 25025228 | | | NC_000023.10:g.25025228C>G | - | | |
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser) | 170302 | ARX | Likely pathogenic | 1468724042 | RCV001003472; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025232 | 25025232 | | | X:g.25025232C>T | - | | |
NM_139058.3(ARX):c.1443dup (p.Gly482fs) | 170302 | ARX | Pathogenic | 2147320305 | RCV001387395; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025232 | 25025233 | | | 25025232 | - | | |
NM_139058.3(ARX):c.1430del (p.Ile477fs) | 170302 | ARX | Pathogenic | -1 | RCV002306444; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025246 | 25025246 | | | 25025245 | - | | |
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) | 170302 | ARX | Pathogenic | 1601946492 | RCV000990553; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025248 | 25025262 | | | X:g.25025248_25025262del | - | | |
NM_139058.3(ARX):c.1428C>T (p.Phe476=) | 170302 | ARX | Likely benign | -1 | RCV002847378; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025248 | 25025248 | | | | - | | |
NM_139058.3(ARX):c.1425T>C (p.Ala475=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 2147320329 | RCV001480314|RCV001820178; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374 | X | 25025251 | 25025251 | | | 25025251 | - | | |
NM_139058.3(ARX):c.1404G>T (p.Ala468=) | 170302 | ARX | Likely benign | 794727657 | RCV002141707; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025272 | 25025272 | | | 25025272 | - | | |
NM_139058.3(ARX):c.1404G>A (p.Ala468=) | 170302 | ARX | Likely benign | -1 | RCV003063831; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025272 | 25025272 | | | | - | | |
NM_139058.3(ARX):c.1400G>T (p.Gly467Val) | 170302 | ARX | Uncertain significance | 587783188 | RCV000145044|RCV001849975; | N | MedGen:CN221281|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025276 | 25025276 | | | NC_000023.10:g.25025276C>A | ClinGen:CA171143 | CN221281 epileptic encephalopathy, early infanitle, 1; | |
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) | 170302 | ARX | Pathogenic | 1601946502 | RCV000990554; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025285 | 25025307 | | | X:g.25025285_25025307del | - | | |
NM_139058.3(ARX):c.1389C>T (p.Ser463=) | 170302 | ARX | Likely benign | 760617042 | RCV002128209|RCV003438968; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900 | X | 25025287 | 25025287 | | | 25025287 | - | | |
NM_139058.3(ARX):c.1388G>A (p.Ser463Asn) | 170302 | ARX | Uncertain significance | 763950769 | RCV000650176; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025288 | 25025288 | | | X:g.25025288C>T | ClinGen:CA10373804 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1374G>A (p.Ala458=) | 170302 | ARX | Likely benign | -1 | RCV002731528; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025302 | 25025302 | | | | - | | |
NM_139058.3(ARX):c.1372G>A (p.Ala458Thr) | 170302 | ARX | Uncertain significance | -1 | RCV002780121; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025304 | 25025304 | | | NC_000023.10:g.25025304C>T | - | | |
NM_139058.3(ARX):c.1371G>T (p.Gly457=) | 170302 | ARX | Likely benign | 781348930 | RCV002038859; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025305 | 25025305 | | | 25025305 | - | | |
NM_139058.3(ARX):c.1369G>A (p.Gly457Arg) | 170302 | ARX | Uncertain significance | -1 | RCV002630815; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025307 | 25025307 | | | NC_000023.10:g.25025307C>T | - | | |
NM_139058.3(ARX):c.1361C>T (p.Pro454Leu) | 170302 | ARX | Uncertain significance | 2147320384 | RCV001892841; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025315 | 25025315 | | | 25025315 | - | | |
NM_139058.3(ARX):c.1354A>G (p.Ser452Gly) | 170302 | ARX | Uncertain significance | -1 | RCV002296469; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025322 | 25025322 | | | 25025322 | - | | |
NM_139058.3(ARX):c.1347C>T (p.Gly449=) | 170302 | ARX | Benign | 75489697 | RCV000082601|RCV000576415|RCV002311739; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25025329 | 25025329 | | | X:g.25025329G>A | ClinGen:CA149539 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser) | 170302 | ARX | Benign | 2147320401 | RCV001516069; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025331 | 25025331 | | | 25025331 | - | | |
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs) | 170302 | ARX | Pathogenic | 2048682045 | RCV001222747; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025336 | 25025337 | | | X:g.25025336_25025337insGCGGAGGTAGGCTCGGGAAGGCGGCGGCGGCGGCGGCGGCAGCGGCAGTCCAA | - | | |
NM_139058.3(ARX):c.1330C>T (p.Leu444=) | 170302 | ARX | Likely benign | -1 | RCV002811609; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025346 | 25025346 | | | | - | | |
NM_139058.3(ARX):c.1327A>G (p.Ser443Gly) | 170302 | ARX | Uncertain significance | 2048682085 | RCV001046513; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025349 | 25025349 | | | X:g.25025349T>C | - | | |
NM_139058.3(ARX):c.1326G>C (p.Pro442=) | 170302 | ARX | Likely benign | 774538294 | RCV001406278; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025350 | 25025350 | | | 25025350 | - | | |
NM_139058.3(ARX):c.1326G>A (p.Pro442=) | 170302 | ARX | Likely benign | 774538294 | RCV002093012; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025350 | 25025350 | | | 25025350 | - | | |
NM_139058.3(ARX):c.1325C>T (p.Pro442Leu) | 170302 | ARX | Uncertain significance | -1 | RCV003038836; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025351 | 25025351 | | | NC_000023.10:g.25025351G>A | - | | |
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) | 170302 | ARX | Benign/Likely benign | 398124508 | RCV000145042|RCV000484947|RCV000623262|RCV001088171; | N | MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025355 | 25025356 | | | NC_000023.10:g.25025356GGC[8] | ClinGen:CA233282 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup) | 170302 | ARX | Conflicting interpretations of pathogenicity | 398124508 | RCV001311829|RCV001316569|RCV002528724; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | X | 25025355 | 25025356 | | | X:g.25025355_25025356insGGCGGC | ClinGen:CA515947029 | CN169374 not specified; | |
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup) | 170302 | ARX | Uncertain significance | 398124508 | RCV000818033|RCV002317581; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | X | 25025355 | 25025356 | | | NC_000023.10:g.25025356GGC[10] | - | | |
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del) | 170302 | ARX | Conflicting interpretations of pathogenicity | 398124508 | RCV000458511|RCV001196746|RCV002318529; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25025356 | 25025358 | | | NC_000023.10:g.25025356GGC[6] | ClinGen:CA10373816 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del) | 170302 | ARX | Conflicting interpretations of pathogenicity | 398124508 | RCV001312993|RCV003456488; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900 | X | 25025356 | 25025364 | | | 25025355 | - | | |
NM_139058.3(ARX):c.1300GCC[5] (p.Ala439_Ala440del) | 170302 | ARX | Conflicting interpretations of pathogenicity | 398124508 | RCV001581601|RCV002573273; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025356 | 25025361 | | | 25025355 | - | | |
NM_139058.3(ARX):c.1314C>T (p.Ala438=) | 170302 | ARX | Likely benign | -1 | RCV002815515; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025362 | 25025362 | | | | - | | |
NM_139058.3(ARX):c.1299_1310del (p.Ala437_Ala440del) | 170302 | ARX | Uncertain significance | 776061068 | RCV002036037; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025366 | 25025377 | | | 25025365 | - | | |
NM_139058.3(ARX):c.1308C>T (p.Ala436=) | 170302 | ARX | Likely benign | -1 | RCV002861589; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025368 | 25025368 | | | | - | | |
NM_139058.3(ARX):c.1293TGCCGC[1] (p.Ala439_Ala440del) | 170302 | ARX | Conflicting interpretations of pathogenicity | 1064794482 | RCV000483403|RCV001856842; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025372 | 25025377 | | | X:g.25025372_25025377del | ClinGen:CA16621350 | CN169374 not specified; | |
NM_139058.3(ARX):c.1299T>A (p.Ala433=) | 170302 | ARX | Uncertain significance | 952488301 | RCV001344132; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025377 | 25025377 | | | 25025377 | - | | |
NM_139058.3(ARX):c.1298C>T (p.Ala433Val) | 170302 | ARX | Uncertain significance | 2147320466 | RCV002027042; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025378 | 25025378 | | | 25025378 | - | | |
NM_139058.3(ARX):c.1296C>T (p.Ala432=) | 170302 | ARX | Benign/Likely benign | 990653917 | RCV001648638|RCV002072995; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025380 | 25025380 | | | 25025380 | - | | |
NM_139058.3(ARX):c.1285G>T (p.Ala429Ser) | 170302 | ARX | Uncertain significance | -1 | RCV002967335; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025391 | 25025391 | | | NC_000023.10:g.25025391C>A | - | | |
NM_139058.3(ARX):c.1284C>T (p.Ser428=) | 170302 | ARX | Likely benign | 1202135194 | RCV002195855; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025392 | 25025392 | | | 25025392 | - | | |
NM_139058.3(ARX):c.1278C>G (p.Leu426=) | 170302 | ARX | Likely benign | -1 | RCV002829297; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025398 | 25025398 | | | | - | | |
NM_139058.3(ARX):c.1273G>A (p.Ala425Thr) | 170302 | ARX | Uncertain significance | -1 | RCV003027841; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025403 | 25025403 | | | NC_000023.10:g.25025403C>T | - | | |
NM_139058.3(ARX):c.1272G>A (p.Pro424=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 398124507 | RCV000082599|RCV000723583|RCV001366119; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025404 | 25025404 | | | X:g.25025404C>T | ClinGen:CA224121 | CN169374 not specified; | |
NM_139058.3(ARX):c.1272G>T (p.Pro424=) | 170302 | ARX | Benign/Likely benign | 398124507 | RCV001519758|RCV001720031; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900 | X | 25025404 | 25025404 | | | X:g.25025404C>A | ClinGen:CA10373821 | CN169374 not specified; | |
NM_139058.3(ARX):c.1271C>T (p.Pro424Leu) | 170302 | ARX | Uncertain significance | 2147320493 | RCV001885942|RCV003154209; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | X | 25025405 | 25025405 | | | 25025405 | - | | |
NM_139058.3(ARX):c.1265ACC[1] (p.His423del) | 170302 | ARX | Uncertain significance | 2147320498 | RCV001917609; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025406 | 25025408 | | | 25025405 | - | | |
NM_139058.3(ARX):c.1270C>G (p.Pro424Ala) | 170302 | ARX | Uncertain significance | 2147320496 | RCV002009436; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025406 | 25025406 | | | 25025406 | - | | |
NM_139058.3(ARX):c.1269C>T (p.His423=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 794727656 | RCV000650183|RCV000724610|RCV002317048; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | X | 25025407 | 25025407 | | | X:g.25025407G>A | ClinGen:CA245473 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1263G>C (p.Pro421=) | 170302 | ARX | Likely benign | 923672115 | RCV000610575|RCV001489556; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025413 | 25025413 | | | X:g.25025413C>G | ClinGen:CA327732619 | CN169374 not specified; | |
NM_139058.3(ARX):c.1263G>T (p.Pro421=) | 170302 | ARX | Likely benign | -1 | RCV002750802; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025413 | 25025413 | | | | - | | |
NM_139058.3(ARX):c.1261C>G (p.Pro421Ala) | 170302 | ARX | Uncertain significance | 1417254985 | RCV001991543; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025415 | 25025415 | | | 25025415 | - | | |
NM_139058.3(ARX):c.1257C>T (p.Phe419=) | 170302 | ARX | Likely benign | 1248729100 | RCV002086586; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025419 | 25025419 | | | 25025419 | - | | |
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg) | 170302 | ARX | Uncertain significance | 2048682725 | RCV001170000; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025423 | 25025423 | | | X:g.25025423G>C | - | | |
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) | 170302 | ARX | Benign/Likely benign | 778734352 | RCV001512734|RCV002315379; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25025429 | 25025429 | | | NC_000023.10:g.25025429G>C | - | | |
NM_139058.3(ARX):c.1245C>T (p.Asp415=) | 170302 | ARX | Likely benign | 2147320537 | RCV001433352; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025431 | 25025431 | | | 25025431 | - | | |
NM_139058.3(ARX):c.1233C>T (p.Ser411=) | 170302 | ARX | Likely benign | 1275814443 | RCV001407514|RCV001762673; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | X | 25025443 | 25025443 | | | 25025443 | - | | |
NM_139058.3(ARX):c.1226C>A (p.Pro409Gln) | 170302 | ARX | Uncertain significance | 1601946603 | RCV000799400; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025450 | 25025450 | | | X:g.25025450G>T | - | | |
NM_139058.3(ARX):c.1209G>A (p.Pro403=) | 170302 | ARX | Likely benign | 1380487514 | RCV001441372; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025467 | 25025467 | | | X:g.25025467C>T | - | | |
NM_139058.3(ARX):c.1209G>C (p.Pro403=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 1380487514 | RCV000999358|RCV001415888; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025467 | 25025467 | | | X:g.25025467C>G | - | | |
NM_139058.3(ARX):c.1203G>C (p.Pro401=) | 170302 | ARX | Likely benign | -1 | RCV003017571; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025473 | 25025473 | | | | - | | |
NM_139058.3(ARX):c.1194G>T (p.Leu398=) | 170302 | ARX | Likely benign | 1211813471 | RCV002209157; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025482 | 25025482 | | | 25025482 | - | | |
NM_139058.3(ARX):c.1187dup (p.Gly397fs) | 170302 | ARX | Pathogenic/Likely pathogenic | 1328291159 | RCV000011945|RCV001194458|RCV001389322; | N | MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025488 | 25025489 | | | X:g.25025488_25025489insG | OMIM:300382.0009 | C1846171 300215 Lissencephaly 2, X-linked; | |
NM_139058.3(ARX):c.1186C>G (p.Pro396Ala) | 170302 | ARX | Uncertain significance | 776523818 | RCV001238492|RCV003234012; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN517202 | X | 25025490 | 25025490 | | | X:g.25025490G>C | - | | |
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr) | 170302 | ARX | Uncertain significance | 776523818 | RCV001303155; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025490 | 25025490 | | | 25025490 | - | | |
NM_139058.3(ARX):c.1182C>T (p.His394=) | 170302 | ARX | Likely benign | 950461742 | RCV002066501; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025494 | 25025494 | | | X:g.25025494G>A | - | | |
NM_139058.3(ARX):c.1170C>T (p.Gly390=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 761632870 | RCV000217574|RCV000764873|RCV001366501|RCV002317744; | N | MedGen:C3661900|MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508; MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083; MON | X | 25025506 | 25025506 | | | X:g.25025506G>A | ClinGen:CA10373824 | CN169374 not specified; | |
NM_139058.3(ARX):c.1155G>A (p.Lys385=) | 170302 | ARX | Likely benign | 1053434875 | RCV002085202; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025521 | 25025521 | | | 25025521 | - | | |
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys) | 170302 | ARX | Pathogenic | -1 | RCV003072879; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025526 | 25025526 | | | NC_000023.10:g.25025526G>A | - | | |
NM_139058.3(ARX):c.1143C>T (p.Ala381=) | 170302 | ARX | Likely benign | -1 | RCV002909190; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025533 | 25025533 | | | | - | | |
NM_139058.3(ARX):c.1142C>G (p.Ala381Gly) | 170302 | ARX | Uncertain significance | -1 | RCV002304587; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025534 | 25025534 | | | 25025534 | - | | |
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys) | 170302 | ARX | Likely pathogenic | 1556049714 | RCV001231316; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025541 | 25025541 | | | X:g.25025541G>A | - | | |
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser) | 170302 | ARX | Likely pathogenic | 1556049714 | RCV002023909; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025541 | 25025541 | | | 25025541 | - | | |
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) | 170302 | ARX | Conflicting interpretations of pathogenicity | 2048683301 | RCV001253619|RCV001255345; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology: | X | 25025548 | 25025548 | | | X:g.25025548G>C | - | | |
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter) | 170302 | ARX | Pathogenic | 2147320638 | RCV001883211; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025551 | 25025551 | | | 25025551 | - | | |
NM_139058.3(ARX):c.1120-2A>G | 170302 | ARX | Pathogenic | 2147320644 | RCV001984673; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25025558 | 25025558 | | | 25025558 | - | | |
NM_139058.3(ARX):c.1120-4G>A | 170302 | ARX | Likely benign | -1 | RCV003009650; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025560 | 25025560 | | | NC_000023.10:g.25025560C>T | - | | |
NM_139058.3(ARX):c.1120-5del | 170302 | ARX | Likely benign | 2147320646 | RCV002201781; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025561 | 25025561 | | | 25025560 | - | | |
NM_139058.3(ARX):c.1120-17CT[3] | 170302 | ARX | Likely benign | 763304807 | RCV002104771; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025566 | 25025567 | | | 25025565 | - | | |
NM_139058.3(ARX):c.1120-12T>G | 170302 | ARX | Likely benign | -1 | RCV002856734; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25025568 | 25025568 | | | NC_000023.10:g.25025568A>C | - | | |
NM_139058.3(ARX):c.1119+20G>A | 170302 | ARX | Likely benign | 2048696652 | RCV002155307; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25028357 | 25028357 | | | 25028357 | - | | |
NM_139058.3(ARX):c.1119+16G>A | 170302 | ARX | Likely benign | -1 | RCV002952527; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25028361 | 25028361 | | | NC_000023.10:g.25028361C>T | - | | |
NM_139058.3(ARX):c.1119+6C>T | 170302 | ARX | Conflicting interpretations of pathogenicity | 201300786 | RCV000420138|RCV000734488|RCV001088866; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25028371 | 25028371 | | | X:g.25028371G>A | ClinGen:CA10373836 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NC_000023.10:g.(?_25028377)_(25033854_?)dup | 170302 | ARX | Uncertain significance | -1 | RCV000796784; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25028377 | 25033854 | | | | - | | |
NM_139058.3(ARX):c.1111del (p.Arg371fs) | 170302 | ARX | Pathogenic | -1 | RCV002938665; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25028385 | 25028385 | | | NC_000023.10:g.25028387del | - | | |
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) | 170302 | ARX | Conflicting interpretations of pathogenicity | 104894746 | RCV000442107|RCV000779752|RCV000990555|RCV001372869; | N | MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25028391 | 25028391 | | | X:g.25028391C>T | ClinGen:CA16608407 | CN517202 not provided; | |
NM_139058.3(ARX):c.1104C>T (p.Thr368=) | 170302 | ARX | Likely benign | 771822246 | RCV002066161; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25028392 | 25028392 | | | X:g.25028392G>A | - | | |
NM_139058.3(ARX):c.1074-3T>C | 170302 | ARX | Benign | 200700643 | RCV000145037|RCV000650187|RCV001727581|RCV002312544; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | X | 25028425 | 25028425 | | | X:g.25028425A>G | ClinGen:CA171140 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1073+19C>T | 170302 | ARX | Likely benign | 2048708046 | RCV002215679; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031020 | 25031020 | | | 25031020 | - | | |
NM_139058.3(ARX):c.1073+9G>C | 170302 | ARX | Likely benign | 779717915 | RCV001471103; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031030 | 25031030 | | | X:g.25031030C>G | - | | |
NM_139058.3(ARX):c.1073+6C>T | 170302 | ARX | Uncertain significance | 1176939436 | RCV001926944; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031033 | 25031033 | | | 25031033 | - | | |
NM_139058.3(ARX):c.1073+4T>C | 170302 | ARX | Uncertain significance | 1460686418 | RCV002007902; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031035 | 25031035 | | | 25031035 | - | | |
NM_139058.3(ARX):c.1073G>A (p.Arg358Lys) | 170302 | ARX | Uncertain significance | 2147323521 | RCV001808078; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031039 | 25031039 | | | 25031039 | - | | |
NM_139058.3(ARX):c.1059G>A (p.Pro353=) | 170302 | ARX | Likely benign | 1060504804 | RCV001446121; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031053 | 25031053 | | | NC_000023.10:g.25031053C>T | ClinGen:CA16616468 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) | 170302 | ARX | Pathogenic | 104894743 | RCV000011939; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031054 | 25031054 | | | X:g.25031054G>A | ClinGen:CA121410,UniProtKB:Q96QS3#VAR_015180,OMIM:300382.0003 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1041C>G (p.Phe347Leu) | 170302 | ARX | Uncertain significance | 1060503040 | RCV000470846; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031071 | 25031071 | | | NC_000023.10:g.25031071G>C | ClinGen:CA16616659 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1039T>G (p.Phe347Val) | 170302 | ARX | Likely pathogenic | 1556054888 | RCV000585827; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031073 | 25031073 | | | X:g.25031073A>C | ClinGen:CA412611898 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.1039T>C (p.Phe347Leu) | 170302 | ARX | Uncertain significance | 1556054888 | RCV001071777; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031073 | 25031073 | | | X:g.25031073A>G | - | | |
NM_139058.3(ARX):c.1033C>A (p.Arg345=) | 170302 | ARX | Likely benign | 1601948273 | RCV000940083; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031079 | 25031079 | | | X:g.25031079G>T | - | | |
NM_139058.3(ARX):c.1027C>T (p.Leu343=) | 170302 | ARX | Likely benign | 370974597 | RCV002121608; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031085 | 25031085 | | | 25031085 | - | | |
NM_139058.3(ARX):c.1014C>T (p.Tyr338=) | 170302 | ARX | Likely benign | -1 | RCV003028854; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031098 | 25031098 | | | | - | | |
NM_139058.3(ARX):c.1008C>A (p.Thr336=) | 170302 | ARX | Likely benign | 2147323576 | RCV001459665; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031104 | 25031104 | | | 25031104 | - | | |
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) | 170302 | ARX | Pathogenic | 869312662 | RCV000209847; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031105 | 25031110 | | | NC_000023.10:g.25031105_25031110delinsTGGTACA | ClinGen:CA358357 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.995G>A (p.Arg332His) | 170302 | ARX | Pathogenic | 111033612 | RCV000011943|RCV000145064|RCV002512976; | N | MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031117 | 25031117 | | | NC_000023.10:g.25031117C>T | OMIM:300382.0007,ClinGen:CA213168,UniProtKB:Q96QS3#VAR_015178 | C1846171 300215 Lissencephaly 2, X-linked; | |
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) | 170302 | ARX | Likely pathogenic | 2147323593 | RCV001989538|RCV002479706; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508; MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452; MONDO:MONDO:0010632,M | X | 25031118 | 25031118 | | | 25031118 | - | | |
NM_139058.3(ARX):c.993C>T (p.Tyr331=) | 170302 | ARX | Likely benign | -1 | RCV003013755; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031119 | 25031119 | | | | - | | |
NM_139058.3(ARX):c.989G>A (p.Arg330His) | 170302 | ARX | Likely pathogenic | 886039308 | RCV000255677|RCV001253064; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031123 | 25031123 | | | X:g.25031123C>T | ClinGen:CA10588763 | CN517202 not provided; | |
NM_139058.3(ARX):c.956C>A (p.Ser319Ter) | 170302 | ARX | Pathogenic | 2048708701 | RCV001215936|RCV001375968; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452 | X | 25031156 | 25031156 | | | X:g.25031156G>T | - | | |
NM_139058.3(ARX):c.951C>T (p.Ser317=) | 170302 | ARX | Likely benign | 2048708727 | RCV001474979; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031161 | 25031161 | | | 25031161 | - | | |
NM_139058.3(ARX):c.946G>A (p.Gly316Ser) | 170302 | ARX | Uncertain significance | 2048708756 | RCV001262667; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031166 | 25031166 | | | X:g.25031166C>T | - | | |
NM_139058.3(ARX):c.944C>T (p.Ala315Val) | 170302 | ARX | Uncertain significance | 2048708779 | RCV001321985; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031168 | 25031168 | | | 25031168 | - | | |
NM_139058.3(ARX):c.930C>T (p.Ser310=) | 170302 | ARX | Likely benign | 1569395305 | RCV000701316; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031182 | 25031182 | | | NC_000023.10:g.25031182G>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.921C>T (p.Gly307=) | 170302 | ARX | Likely benign | 398124519 | RCV002025053; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031191 | 25031191 | | | 25031191 | - | | |
NM_139058.3(ARX):c.921C>A (p.Gly307=) | 170302 | ARX | Likely benign | 398124519 | RCV000456544|RCV001550745|RCV002313231; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | X | 25031191 | 25031191 | | | NC_000023.10:g.25031191G>T | ClinGen:CA10373862 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.904G>C (p.Ala302Pro) | 170302 | ARX | Uncertain significance | 146224124 | RCV000688886; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031208 | 25031208 | | | NC_000023.10:g.25031208C>G | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.893A>T (p.His298Leu) | 170302 | ARX | Uncertain significance | -1 | RCV003053701; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031219 | 25031219 | | | NC_000023.10:g.25031219T>A | - | | |
NM_139058.3(ARX):c.887T>C (p.Leu296Pro) | 170302 | ARX | Uncertain significance | -1 | RCV002810985; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031225 | 25031225 | | | NC_000023.10:g.25031225A>G | - | | |
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) | 170302 | ARX | Conflicting interpretations of pathogenicity | 28935479 | RCV000011950|RCV000487519|RCV001230602; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031256 | 25031256 | | | X:g.25031256C>T | ClinGen:CA213173,UniProtKB:Q96QS3#VAR_015671,OMIM:300382.0014 | C0796244 300419 Mental retardation, with or without seizures, ARX-related, X-linked; | |
NM_139058.3(ARX):c.855G>A (p.Glu285=) | 170302 | ARX | Likely benign | 139301257 | RCV000462096|RCV000504068; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN169374 | X | 25031257 | 25031257 | | | NC_000023.10:g.25031257C>T | ClinGen:CA10373870 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.840T>C (p.Ala280=) | 170302 | ARX | Likely benign | 936582415 | RCV002172911|RCV002443103; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031272 | 25031272 | | | 25031272 | - | | |
NM_139058.3(ARX):c.838G>C (p.Ala280Pro) | 170302 | ARX | Uncertain significance | -1 | RCV003032366; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031274 | 25031274 | | | NC_000023.10:g.25031274C>G | - | | |
NM_139058.3(ARX):c.837C>G (p.Ala279=) | 170302 | ARX | Likely benign | 1190644757 | RCV001411413; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031275 | 25031275 | | | 25031275 | - | | |
NM_139058.3(ARX):c.832G>A (p.Ala278Thr) | 170302 | ARX | Likely benign | 751858511 | RCV001065208; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031280 | 25031280 | | | X:g.25031280C>T | - | | |
NM_139058.3(ARX):c.826G>A (p.Ala276Thr) | 170302 | ARX | Uncertain significance | -1 | RCV003065501; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031286 | 25031286 | | | NC_000023.10:g.25031286C>T | - | | |
NM_139058.3(ARX):c.825C>T (p.Ala275=) | 170302 | ARX | Likely benign | 922800521 | RCV001424630; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031287 | 25031287 | | | NC_000023.10:g.25031287G>A | ClinGen:CA16616649 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.822G>A (p.Val274=) | 170302 | ARX | Likely benign | -1 | RCV003118596; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031290 | 25031290 | | | | - | | |
NM_139058.3(ARX):c.821T>C (p.Val274Ala) | 170302 | ARX | Uncertain significance | 375289776 | RCV001366587|RCV003136037|RCV003416273; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900| | X | 25031291 | 25031291 | | | 25031291 | - | | |
NM_139058.3(ARX):c.813T>C (p.Thr271=) | 170302 | ARX | Likely benign | -1 | RCV002730341; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031299 | 25031299 | | | | - | | |
NM_139058.3(ARX):c.808G>A (p.Ala270Thr) | 170302 | ARX | Conflicting interpretations of pathogenicity | 1057520487 | RCV000427566|RCV001861498; | N | MedGen:CN169374|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031304 | 25031304 | | | X:g.25031304C>T | ClinGen:CA16608410 | CN169374 not specified; | |
NM_139058.3(ARX):c.807C>T (p.Ala269=) | 170302 | ARX | Benign/Likely benign | 587783205 | RCV000145061|RCV000868747|RCV002316924|RCV002505121; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419,Orp | X | 25031305 | 25031305 | | | X:g.25031305G>A | ClinGen:CA171162 | CN169374 not specified; | |
NM_139058.3(ARX):c.802G>T (p.Val268Leu) | 170302 | ARX | Conflicting interpretations of pathogenicity | 587783141 | RCV000144815|RCV000650188|RCV001088857|RCV002408644; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031310 | 25031310 | | | NC_000023.10:g.25031310C>A | ClinGen:CA294725 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.794G>A (p.Arg265His) | 170302 | ARX | Uncertain significance | 1223069540 | RCV001219687|RCV002275311|RCV003318672; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125, | X | 25031318 | 25031318 | | | X:g.25031318C>T | - | | |
NM_139058.3(ARX):c.787C>T (p.Pro263Ser) | 170302 | ARX | Uncertain significance | 2147323801 | RCV002003577; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031325 | 25031325 | | | 25031325 | - | | |
NM_139058.3(ARX):c.776T>C (p.Leu259Pro) | 170302 | ARX | Likely benign | 774291500 | RCV001421488|RCV002411064; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031336 | 25031336 | | | X:g.25031336A>G | ClinGen:CA10373879 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.773C>A (p.Ala258Glu) | 170302 | ARX | Uncertain significance | 759399062 | RCV001982356; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031339 | 25031339 | | | 25031339 | - | | |
NM_139058.3(ARX):c.771C>T (p.Arg257=) | 170302 | ARX | Uncertain significance | 1601948418 | RCV000820325|RCV001332908; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031341 | 25031341 | | | X:g.25031341G>A | - | | |
NM_139058.3(ARX):c.770G>C (p.Arg257Pro) | 170302 | ARX | Likely benign | 1239494313 | RCV002097180; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031342 | 25031342 | | | 25031342 | - | | |
NM_139058.3(ARX):c.769C>G (p.Arg257Gly) | 170302 | ARX | Uncertain significance | 1475419182 | RCV000703096; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031343 | 25031343 | | | NC_000023.10:g.25031343G>C | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.769C>T (p.Arg257Cys) | 170302 | ARX | Uncertain significance | -1 | RCV003082803; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031343 | 25031343 | | | NC_000023.10:g.25031343G>A | - | | |
NM_139058.3(ARX):c.766G>C (p.Ala256Pro) | 170302 | ARX | Uncertain significance | 769056463 | RCV000699383; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031346 | 25031346 | | | NC_000023.10:g.25031346C>G | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.743_766del (p.240EEELLEDD[1]) | 170302 | ARX | Uncertain significance | 1473310605 | RCV001226880|RCV002563104; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | X | 25031346 | 25031369 | | | X:g.25031346_25031369del | - | | |
NM_139058.3(ARX):c.766G>A (p.Ala256Thr) | 170302 | ARX | Uncertain significance | 769056463 | RCV002019334; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031346 | 25031346 | | | 25031346 | - | | |
NM_139058.3(ARX):c.765C>T (p.Asp255=) | 170302 | ARX | Likely benign | -1 | RCV003016929; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031347 | 25031347 | | | | - | | |
NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del) | 170302 | ARX | Uncertain significance | 1556055511 | RCV000650179; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031348 | 25031410 | | | X:g.25031348_25031410del | ClinGen:CA658799627 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.756G>C (p.Leu252=) | 170302 | ARX | Likely benign | -1 | RCV002944073; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031356 | 25031356 | | | | - | | |
NM_139058.3(ARX):c.747G>A (p.Glu249=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 797045305 | RCV000195280|RCV001425507; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031365 | 25031365 | | | NC_000023.10:g.25031365C>T | ClinGen:CA209987 | CN169374 not specified; | |
NM_139058.3(ARX):c.739G>C (p.Asp247His) | 170302 | ARX | Conflicting interpretations of pathogenicity | 765259012 | RCV001593824|RCV001866194; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031373 | 25031373 | | | 25031373 | - | | |
NM_139058.3(ARX):c.738C>T (p.Asp246=) | 170302 | ARX | Benign | 750465338 | RCV002092788; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031374 | 25031374 | | | 25031374 | - | | |
NM_139058.3(ARX):c.731T>C (p.Leu244Pro) | 170302 | ARX | Uncertain significance | -1 | RCV002962887; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031381 | 25031381 | | | NC_000023.10:g.25031381A>G | - | | |
NM_139058.3(ARX):c.729G>A (p.Leu243=) | 170302 | ARX | Likely benign | -1 | RCV003066008; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031383 | 25031383 | | | | - | | |
NM_139058.3(ARX):c.714C>G (p.Asp238Glu) | 170302 | ARX | Uncertain significance | 2048710190 | RCV001217722; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031398 | 25031398 | | | X:g.25031398G>C | - | | |
NM_139058.3(ARX):c.714C>T (p.Asp238=) | 170302 | ARX | Likely benign | -1 | RCV002894674; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031398 | 25031398 | | | | - | | |
NM_139058.3(ARX):c.711G>A (p.Glu237=) | 170302 | ARX | Likely benign | -1 | RCV002918538; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031401 | 25031401 | | | | - | | |
NM_139058.3(ARX):c.708T>C (p.Asp236=) | 170302 | ARX | Likely benign | 763458576 | RCV000609453|RCV000650181; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031404 | 25031404 | | | X:g.25031404A>G | ClinGen:CA10373886 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.706G>C (p.Asp236His) | 170302 | ARX | Uncertain significance | 1291778310 | RCV001894584; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031406 | 25031406 | | | 25031406 | - | | |
NM_139058.3(ARX):c.699C>T (p.Asp233=) | 170302 | ARX | Likely benign | 1277580936 | RCV002117618; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031413 | 25031413 | | | 25031413 | - | | |
NM_139058.3(ARX):c.694G>A (p.Glu232Lys) | 170302 | ARX | Uncertain significance | 1026478061 | RCV001362413; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031418 | 25031418 | | | 25031418 | - | | |
NM_139058.3(ARX):c.681G>C (p.Glu227Asp) | 170302 | ARX | Uncertain significance | 887974166 | RCV000441157|RCV002522398; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031431 | 25031431 | | | X:g.25031431C>G | ClinGen:CA16609170 | CN169374 not specified; | |
NM_139058.3(ARX):c.678C>T (p.Asp226=) | 170302 | ARX | Likely benign | 764730866 | RCV000525572; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031434 | 25031434 | | | NC_000023.10:g.25031434G>A | ClinGen:CA515947780 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.678C>G (p.Asp226Glu) | 170302 | ARX | Uncertain significance | 764730866 | RCV001366251; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031434 | 25031434 | | | 25031434 | - | | |
NM_139058.3(ARX):c.674A>T (p.Asp225Val) | 170302 | ARX | Uncertain significance | 1057521690 | RCV000430378|RCV001861535; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031438 | 25031438 | | | X:g.25031438T>A | ClinGen:CA16608411 | CN169374 not specified; | |
NM_139058.3(ARX):c.659GCACCG[3] (p.220GT[3]) | 170302 | ARX | Uncertain significance | 876661147 | RCV000216390|RCV001307414; | N | MedGen:CN517202|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031441 | 25031442 | | | X:g.25031441_25031442insCGGTGC | ClinGen:CA10577657 | CN169374 not specified; | |
NM_139058.3(ARX):c.669C>A (p.Thr223=) | 170302 | ARX | Likely benign | 1473823603 | RCV001402895; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031443 | 25031443 | | | X:g.25031443G>T | - | | |
NM_139058.3(ARX):c.664G>C (p.Gly222Arg) | 170302 | ARX | Likely benign | 1183516776 | RCV001492544; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031448 | 25031448 | | | X:g.25031448C>G | - | | |
NM_139058.3(ARX):c.664G>A (p.Gly222Ser) | 170302 | ARX | Uncertain significance | 1183516776 | RCV001348892; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031448 | 25031448 | | | 25031448 | - | | |
NM_139058.3(ARX):c.663C>T (p.Thr221=) | 170302 | ARX | Benign/Likely benign | 1006404746 | RCV000939446|RCV001712267; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900 | X | 25031449 | 25031449 | | | X:g.25031449G>A | ClinGen:CA16608870 | CN169374 not specified; | |
NM_139058.3(ARX):c.663C>G (p.Thr221=) | 170302 | ARX | Likely benign | 1006404746 | RCV000650180|RCV000842158; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN517202 | X | 25031449 | 25031449 | | | NC_000023.10:g.25031449G>C | ClinGen:CA515947837 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.662C>T (p.Thr221Ile) | 170302 | ARX | Uncertain significance | 1017790646 | RCV001039896; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031450 | 25031450 | | | X:g.25031450G>A | - | | |
NM_139058.3(ARX):c.659G>A (p.Gly220Asp) | 170302 | ARX | Uncertain significance | -1 | RCV002602382; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031453 | 25031453 | | | NC_000023.10:g.25031453C>T | - | | |
NM_139058.3(ARX):c.657T>C (p.Gly219=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 755317735 | RCV000731965|RCV002067127; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031455 | 25031455 | | | NC_000023.10:g.25031455A>G | - | | |
NM_139058.3(ARX):c.651G>A (p.Ala217=) | 170302 | ARX | Likely benign | 587783204 | RCV001341320; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031461 | 25031461 | | | 25031461 | - | | |
NM_139058.3(ARX):c.635_646del (p.Gly212_Pro215del) | 170302 | ARX | Uncertain significance | 2147323937 | RCV002027059; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031466 | 25031477 | | | 25031465 | - | | |
NM_139058.3(ARX):c.642_645del (p.Pro215fs) | 170302 | ARX | Pathogenic | 2147323943 | RCV001940114; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031467 | 25031470 | | | 25031466 | - | | |
NM_139058.3(ARX):c.644C>A (p.Pro215Gln) | 170302 | ARX | Uncertain significance | 964935114 | RCV000444412|RCV002521693; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031468 | 25031468 | | | X:g.25031468G>T | ClinGen:CA16608871 | CN169374 not specified; | |
NM_139058.3(ARX):c.644C>T (p.Pro215Leu) | 170302 | ARX | Uncertain significance | 964935114 | RCV001981663; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031468 | 25031468 | | | 25031468 | - | | |
NM_139058.3(ARX):c.642C>A (p.Ala214=) | 170302 | ARX | Likely benign | 997439358 | RCV000650191|RCV002360639|RCV003437375; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | X | 25031470 | 25031470 | | | NC_000023.10:g.25031470G>T | ClinGen:CA327733051 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.639C>T (p.Ser213=) | 170302 | ARX | Likely benign | 2048710797 | RCV001421868; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031473 | 25031473 | | | 25031473 | - | | |
NM_139058.3(ARX):c.625_636dup (p.Gly212_Ser213insGlyGlyProGly) | 170302 | ARX | Uncertain significance | -1 | RCV002681371; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031475 | 25031476 | | | NC_000023.10:g.25031477_25031488dup | - | | |
NM_139058.3(ARX):c.633G>A (p.Pro211=) | 170302 | ARX | Likely benign | -1 | RCV002580786; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031479 | 25031479 | | | | - | | |
NM_139058.3(ARX):c.632C>G (p.Pro211Arg) | 170302 | ARX | Uncertain significance | -1 | RCV002903595; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031480 | 25031480 | | | NC_000023.10:g.25031480G>C | - | | |
NM_139058.3(ARX):c.629G>C (p.Gly210Ala) | 170302 | ARX | Uncertain significance | 752323898 | RCV000730840|RCV001227161; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031483 | 25031483 | | | NC_000023.10:g.25031483C>G | - | | |
NM_139058.3(ARX):c.629G>T (p.Gly210Val) | 170302 | ARX | Uncertain significance | 752323898 | RCV000821223|RCV001332907; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031483 | 25031483 | | | X:g.25031483C>A | - | | |
NM_139058.3(ARX):c.625G>C (p.Gly209Arg) | 170302 | ARX | Uncertain significance | 587783203 | RCV000145059|RCV000428584|RCV001237911; | N | MedGen:CN221281|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031487 | 25031487 | | | X:g.25031487C>G | ClinGen:CA171158 | CN221281 epileptic encephalopathy, early infanitle, 1; | |
NM_139058.3(ARX):c.625G>A (p.Gly209Ser) | 170302 | ARX | Conflicting interpretations of pathogenicity | 587783203 | RCV001204695|RCV001531139; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | X | 25031487 | 25031487 | | | X:g.25031487C>T | - | | |
NM_139058.3(ARX):c.619G>T (p.Val207Leu) | 170302 | ARX | Uncertain significance | 1276718018 | RCV001991033; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031493 | 25031493 | | | 25031493 | - | | |
NM_139058.3(ARX):c.615C>T (p.Leu205=) | 170302 | ARX | Likely benign | -1 | RCV002633891; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031497 | 25031497 | | | | - | | |
NM_139058.3(ARX):c.613C>T (p.Leu205Phe) | 170302 | ARX | Conflicting interpretations of pathogenicity | 797045304 | RCV000193867|RCV001852546; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031499 | 25031499 | | | NC_000023.10:g.25031499G>A | ClinGen:CA207632 | CN169374 not specified; | |
NM_139058.3(ARX):c.611G>A (p.Arg204His) | 170302 | ARX | Conflicting interpretations of pathogenicity | 755745002 | RCV000623588|RCV000981667; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031501 | 25031501 | | | NC_000023.10:g.25031501C>T | ClinGen:CA10373892 | C0950123 Inborn genetic diseases; | |
NM_139058.3(ARX):c.611G>T (p.Arg204Leu) | 170302 | ARX | Uncertain significance | 755745002 | RCV000822062|RCV001251911; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286, | X | 25031501 | 25031501 | | | X:g.25031501C>A | - | | |
NM_139058.3(ARX):c.611G>C (p.Arg204Pro) | 170302 | ARX | Uncertain significance | -1 | RCV003445366; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031501 | 25031501 | | | | - | | |
NM_139058.3(ARX):c.610C>A (p.Arg204Ser) | 170302 | ARX | Uncertain significance | 777162737 | RCV002018485; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031502 | 25031502 | | | 25031502 | - | | |
NM_139058.3(ARX):c.603G>A (p.Pro201=) | 170302 | ARX | Likely benign | 1271214509 | RCV002016617; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031509 | 25031509 | | | 25031509 | - | | |
NM_139058.3(ARX):c.602C>A (p.Pro201Gln) | 170302 | ARX | Likely benign | 1484238484 | RCV000650190; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031510 | 25031510 | | | NC_000023.10:g.25031510G>T | ClinGen:CA412612826 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.596C>G (p.Thr199Arg) | 170302 | ARX | Conflicting interpretations of pathogenicity | 1268774120 | RCV001360877|RCV001573191|RCV002252177; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900| | X | 25031516 | 25031516 | | | X:g.25031516G>C | ClinGen:CA412612841 | CN169374 not specified; | |
NM_139058.3(ARX):c.596C>A (p.Thr199Lys) | 170302 | ARX | Uncertain significance | -1 | RCV002636957|RCV003140122; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | X | 25031516 | 25031516 | | | NC_000023.10:g.25031516G>T | - | | |
NM_139058.3(ARX):c.592G>A (p.Val198Ile) | 170302 | ARX | Uncertain significance | 966816905 | RCV001867320|RCV003438881; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | X | 25031520 | 25031520 | | | 25031520 | - | | |
NM_139058.3(ARX):c.591C>T (p.Gly197=) | 170302 | ARX | Likely benign | 1200326478 | RCV001576553|RCV002072266; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031521 | 25031521 | | | 25031521 | - | | |
NM_139058.3(ARX):c.590dup (p.Val198fs) | 170302 | ARX | Pathogenic | -1 | RCV002903103; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031521 | 25031522 | | | NC_000023.10:g.25031527dup | - | | |
NM_139058.3(ARX):c.586G>C (p.Gly196Arg) | 170302 | ARX | Uncertain significance | 1287749285 | RCV000817345|RCV001265952; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031526 | 25031526 | | | X:g.25031526C>G | - | | |
NM_139058.3(ARX):c.579C>T (p.Gly193=) | 170302 | ARX | Likely benign | -1 | RCV002572945; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031533 | 25031533 | | | | - | | |
NM_139058.3(ARX):c.578G>C (p.Gly193Ala) | 170302 | ARX | Uncertain significance | 2147324028 | RCV002246981|RCV003094048; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031534 | 25031534 | | | 25031534 | - | | |
NM_139058.3(ARX):c.563C>G (p.Ala188Gly) | 170302 | ARX | Uncertain significance | 1441240819 | RCV002015965; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031549 | 25031549 | | | 25031549 | - | | |
NM_139058.3(ARX):c.558G>T (p.Pro186=) | 170302 | ARX | Likely benign | 748764628 | RCV000441242|RCV000551825|RCV001702460; | N | MedGen:CN169374|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | X | 25031554 | 25031554 | | | X:g.25031554C>A | ClinGen:CA10373894 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.554C>A (p.Pro185Gln) | 170302 | ARX | Conflicting interpretations of pathogenicity | 925128416 | RCV000821192|RCV001585760|RCV002345895; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | X | 25031558 | 25031558 | | | X:g.25031558G>T | - | | |
NM_139058.3(ARX):c.553C>T (p.Pro185Ser) | 170302 | ARX | Uncertain significance | 2048711460 | RCV001048046; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031559 | 25031559 | | | X:g.25031559G>A | - | | |
NM_139058.3(ARX):c.552G>C (p.Pro184=) | 170302 | ARX | Likely benign | 2147324063 | RCV002147590; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031560 | 25031560 | | | 25031560 | - | | |
NM_139058.3(ARX):c.543C>T (p.Pro181=) | 170302 | ARX | Benign/Likely benign | 587780854 | RCV000123690|RCV002055419; | N | MedGen:CN169374|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031569 | 25031569 | | | X:g.25031569G>A | ClinGen:CA289511 | CN169374 not specified; | |
NM_139058.3(ARX):c.541C>A (p.Pro181Thr) | 170302 | ARX | Uncertain significance | 2147324074 | RCV001970323; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031571 | 25031571 | | | 25031571 | - | | |
NM_139058.3(ARX):c.541C>T (p.Pro181Ser) | 170302 | ARX | Uncertain significance | -1 | RCV002791934; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031571 | 25031571 | | | NC_000023.10:g.25031571G>A | - | | |
NM_139058.3(ARX):c.540G>A (p.Ala180=) | 170302 | ARX | Likely benign | 794727309 | RCV001493763; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031572 | 25031572 | | | 25031572 | - | | |
NM_139058.3(ARX):c.535G>C (p.Gly179Arg) | 170302 | ARX | Uncertain significance | 2048711615 | RCV001306673; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031577 | 25031577 | | | 25031577 | - | | |
NM_139058.3(ARX):c.528C>T (p.Arg176=) | 170302 | ARX | Likely benign | -1 | RCV002615375; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031584 | 25031584 | | | | - | | |
NM_139058.3(ARX):c.516C>T (p.Ser172=) | 170302 | ARX | Uncertain significance | 2048711722 | RCV001344467; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031596 | 25031596 | | | 25031596 | - | | |
NM_139058.3(ARX):c.510C>T (p.Ser170=) | 170302 | ARX | Likely benign | 2147324103 | RCV002199271; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031602 | 25031602 | | | 25031602 | - | | |
NM_139058.3(ARX):c.509G>A (p.Ser170Asn) | 170302 | ARX | Uncertain significance | 1556056051 | RCV000536507; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031603 | 25031603 | | | X:g.25031603C>T | ClinGen:CA412613026 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.501G>A (p.Val167=) | 170302 | ARX | Likely benign | 2048711777 | RCV002107802; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031611 | 25031611 | | | 25031611 | - | | |
NM_139058.3(ARX):c.474_475delinsAT (p.Leu159Phe) | 170302 | ARX | Uncertain significance | 1569395505 | RCV000685411; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031637 | 25031638 | | | NC_000023.10:g.25031637_25031638delinsAT | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.448GCCGCGGCC[3] (p.Ala153_Ala155dup) | 170302 | ARX | Uncertain significance | 797045302 | RCV001202324; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031646 | 25031647 | | | X:g.25031646_25031647insGGCCGCGGC | - | | |
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) | 170302 | ARX | Pathogenic | 398124510 | RCV000082605|RCV000192670|RCV000813194; | N | MedGen:CN517202|MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031647 | 25031648 | | | NC_000023.10:g.25031660_25031683dup | ClinGen:CA213322 | C1846171 300215 Lissencephaly 2, X-linked; | |
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) | 170302 | ARX | Conflicting interpretations of pathogenicity | 757588621 | RCV000722715|RCV001253636|RCV001504893|RCV002317589; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | X | 25031647 | 25031661 | | | NC_000023.10:g.25031656_25031670del | - | | |
NM_139058.3(ARX):c.433_465del (p.Ala145_Ala155del) | 170302 | ARX | Uncertain significance | 1251374008 | RCV001350737; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031647 | 25031679 | | | 25031646 | - | | |
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) | 170302 | ARX | Benign/Likely benign | 398124510 | RCV000011954|RCV000082604|RCV000463305|RCV001647067|RCV002316276; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | X | 25031648 | 25031671 | | | X:g.25031648_25031671del | ClinGen:CA149543,OMIM:300382.0018 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) | 170302 | ARX | Pathogenic | 1556056125 | RCV000022855; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031650 | 25031651 | | | X:g.25031650_25031651insGCGGCGGCCGCGGCCGCGGCTGCCGCG | ClinGen:CA128798,OMIM:300382.0022 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup) | 170302 | ARX | Conflicting interpretations of pathogenicity | 398124512 | RCV000082606|RCV000696832; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031653 | 25031654 | | | X:g.25031653_25031654insGCGGCC | ClinGen:CA224125 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup) | 170302 | ARX | Pathogenic | 1556056154 | RCV000558205; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031653 | 25031654 | | | X:g.25031653_25031654insGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT | ClinGen:CA658656855 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.378_459del (p.Pro127fs) | 170302 | ARX | Pathogenic | -1 | RCV003022177; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031653 | 25031734 | | | NC_000023.10:g.25031655_25031736del | - | | |
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del) | 170302 | ARX | Likely benign | 2048712160 | RCV001034298; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031654 | 25031674 | | | X:g.25031654_25031674del | - | | |
NM_139058.3(ARX):c.447GGCCGC[1] (p.Ala154_Ala155del) | 170302 | ARX | Likely benign | -1 | RCV002801886; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031654 | 25031659 | | | NC_000023.10:g.25031659CGCGGC[1] | - | | |
NM_139058.3(ARX):c.457G>A (p.Ala153Thr) | 170302 | ARX | Likely benign | 2048712192 | RCV001466016; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031655 | 25031655 | | | 25031655 | - | | |
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) | 170302 | ARX | Uncertain significance | 750585274 | RCV001009556|RCV001227606|RCV001766823; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508; MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083|MONDO:MONDO:0010632 | X | 25031656 | 25031657 | | | X:g.25031656_25031657insGCCGCGGCCGCGGCT | - | | |
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del) | 170302 | ARX | Benign | 750585274 | RCV001536811|RCV002071929; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031657 | 25031671 | | | 25031656 | - | | |
NM_139058.3(ARX):c.455C>G (p.Ala152Gly) | 170302 | ARX | Uncertain significance | 1184388194 | RCV002038353; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031657 | 25031657 | | | 25031657 | - | | |
NM_139058.3(ARX):c.454G>A (p.Ala152Thr) | 170302 | ARX | Uncertain significance | 587783201 | RCV000145057|RCV000650175|RCV002514786; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031658 | 25031658 | | | X:g.25031658C>T | ClinGen:CA233287 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.453G>C (p.Ala151=) | 170302 | ARX | Likely benign | 878855205 | RCV000614240|RCV001391684; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031659 | 25031659 | | | X:g.25031659C>G | ClinGen:CA10583941 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) | 170302 | ARX | Conflicting interpretations of pathogenicity | 387906493 | RCV000011937|RCV000033212|RCV000487265|RCV000700342|RCV001580167; | Y | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:00103 | X | 25031660 | 25031661 | | | X:g.25031660_25031661insCGGCCGCGGCTGCCGCGGCGGCCC | ClinGen:CA121408,OMIM:300382.0002 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.452C>T (p.Ala151Val) | 170302 | ARX | Uncertain significance | 1439646032 | RCV001899206; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031660 | 25031660 | | | 25031660 | - | | |
NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del) | 170302 | ARX | Benign/Likely benign | 387906493 | RCV001621834|RCV002072935; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031661 | 25031684 | | | 25031660 | - | | |
NM_139058.3(ARX):c.450C>A (p.Ala150=) | 170302 | ARX | Likely benign | 1410039382 | RCV000543512; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031662 | 25031662 | | | NC_000023.10:g.25031662G>T | ClinGen:CA515947684 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) | 170302 | ARX | Pathogenic/Likely pathogenic | 1569395541 | RCV001862086|RCV002318283; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | X | 25031662 | 25031663 | | | NC_000023.10:g.25031665_25031688dup | - | | |
NM_139058.3(ARX):c.449C>T (p.Ala150Val) | 170302 | ARX | Uncertain significance | 2048712353 | RCV001228236; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031663 | 25031663 | | | X:g.25031663G>A | - | | |
NM_139058.3(ARX):c.448G>A (p.Ala150Thr) | 170302 | ARX | Uncertain significance | -1 | RCV002601783; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031664 | 25031664 | | | NC_000023.10:g.25031664C>T | - | | |
NM_139058.3(ARX):c.447G>C (p.Ala149=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 745705522 | RCV000353204|RCV001089020|RCV002328787; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | X | 25031665 | 25031665 | | | X:g.25031665C>G | ClinGen:CA10373900 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.441_446dup (p.Ala154_Ala155dup) | 170302 | ARX | Uncertain significance | 1460450589 | RCV001929288; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031665 | 25031666 | | | 25031665 | - | | |
NM_139058.3(ARX):c.441_446del (p.Ala154_Ala155del) | 170302 | ARX | Likely benign | 1460450589 | RCV001465629; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031666 | 25031671 | | | 25031665 | - | | |
NM_139058.3(ARX):c.432_446del (p.Ala151_Ala155del) | 170302 | ARX | Likely benign | 2147324216 | RCV002199743; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031666 | 25031680 | | | 25031665 | - | | |
NM_139058.3(ARX):c.443_444insGGCCGC (p.Ala155_Trp156insAlaAla) | 170302 | ARX | Uncertain significance | -1 | RCV002644499; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031668 | 25031669 | | | NC_000023.10:g.25031670_25031671insGGCCGC | - | | |
NM_139058.3(ARX):c.441A>G (p.Ala147=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 797045301 | RCV000194099|RCV000650185|RCV000720962|RCV001711493; | N | MedGen:CN169374|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C2711754|MedGen:C3661900 | X | 25031671 | 25031671 | | | X:g.25031671T>C | ClinGen:CA208040 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.441A>C (p.Ala147=) | 170302 | ARX | Likely benign | 797045301 | RCV000867206|RCV002313482|RCV002512127; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | X | 25031671 | 25031671 | | | NC_000023.10:g.25031671T>G | - | | |
NM_139058.3(ARX):c.440C>T (p.Ala147Val) | 170302 | ARX | Likely benign | 1048593315 | RCV001323225; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031672 | 25031672 | | | 25031672 | - | | |
NM_139058.3(ARX):c.435C>G (p.Ala145=) | 170302 | ARX | Likely benign | -1 | RCV003046337; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031677 | 25031677 | | | | - | | |
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) | 170302 | ARX | Conflicting interpretations of pathogenicity | 1438576250 | RCV002114920|RCV002254363; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031679 | 25031679 | | | 25031679 | - | | |
NM_139058.3(ARX):c.432C>T (p.Ala144=) | 170302 | ARX | Likely benign | -1 | RCV003021869; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031680 | 25031680 | | | | - | | |
NM_139058.3(ARX):c.430G>T (p.Ala144Ser) | 170302 | ARX | Uncertain significance | 1253162910 | RCV001891312|RCV002281198; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900 | X | 25031682 | 25031682 | | | 25031682 | - | | |
NM_139058.3(ARX):c.428G>C (p.Gly143Ala) | 170302 | ARX | Uncertain significance | 2048712574 | RCV001220243; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031684 | 25031684 | | | X:g.25031684C>G | - | | |
NM_139058.3(ARX):c.426A>T (p.Ala142=) | 170302 | ARX | Likely benign | -1 | RCV003084040; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031686 | 25031686 | | | | - | | |
NM_139058.3(ARX):c.421G>A (p.Gly141Ser) | 170302 | ARX | Conflicting interpretations of pathogenicity | 2048712606 | RCV001910354|RCV002331453; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031691 | 25031691 | | | 25031691 | - | | |
NM_139058.3(ARX):c.420C>T (p.Asp140=) | 170302 | ARX | Likely benign | 2147324243 | RCV001442657; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031692 | 25031692 | | | 25031692 | - | | |
NM_139058.3(ARX):c.418G>T (p.Asp140Tyr) | 170302 | ARX | Uncertain significance | 888222904 | RCV000817657; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031694 | 25031694 | | | X:g.25031694C>A | - | | |
NM_139058.3(ARX):c.415C>A (p.Pro139Thr) | 170302 | ARX | Uncertain significance | 2048712673 | RCV001947920; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031697 | 25031697 | | | 25031697 | - | | |
NM_139058.3(ARX):c.411A>C (p.Glu137Asp) | 170302 | ARX | Uncertain significance | 1601948681 | RCV000809484; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031701 | 25031701 | | | X:g.25031701T>G | - | | |
NM_139058.3(ARX):c.404C>T (p.Pro135Leu) | 170302 | ARX | Uncertain significance | 1569395563 | RCV002316892|RCV002533044; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031708 | 25031708 | | | NC_000023.10:g.25031708G>A | - | | |
NM_139058.3(ARX):c.399G>A (p.Ala133=) | 170302 | ARX | Likely benign | 2147324267 | RCV002168687; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031713 | 25031713 | | | 25031713 | - | | |
NM_139058.3(ARX):c.398C>T (p.Ala133Val) | 170302 | ARX | Uncertain significance | 1601948689 | RCV001235081; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031714 | 25031714 | | | X:g.25031714G>A | - | | |
NM_139058.3(ARX):c.357_391del (p.Gly120fs) | 170302 | ARX | Pathogenic | -1 | RCV002801305; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031721 | 25031755 | | | NC_000023.10:g.25031723_25031757del | - | | |
NM_139058.3(ARX):c.390G>T (p.Pro130=) | 170302 | ARX | Likely benign | 2147324273 | RCV001456224; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031722 | 25031722 | | | 25031722 | - | | |
NM_139058.3(ARX):c.389C>T (p.Pro130Leu) | 170302 | ARX | Uncertain significance | 1064795129 | RCV002017843; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031723 | 25031723 | | | 25031723 | - | | |
NM_139058.3(ARX):c.373G>A (p.Ala125Thr) | 170302 | ARX | Uncertain significance | 1349449662 | RCV001891511|RCV003136271; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900 | X | 25031739 | 25031739 | | | 25031739 | - | | |
NM_139058.3(ARX):c.372G>A (p.Glu124=) | 170302 | ARX | Likely benign | 1006764242 | RCV000867561; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031740 | 25031740 | | | X:g.25031740C>T | - | | |
NM_139058.3(ARX):c.370G>T (p.Glu124Ter) | 170302 | ARX | Pathogenic | 2147324296 | RCV002267683; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031742 | 25031742 | | | 25031742 | - | | |
NM_139058.3(ARX):c.365G>A (p.Arg122His) | 170302 | ARX | Uncertain significance | 1335963054 | RCV001932382|RCV002074429; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | X | 25031747 | 25031747 | | | 25031747 | - | | |
NM_139058.3(ARX):c.361C>A (p.Pro121Thr) | 170302 | ARX | Benign | 1308958274 | RCV002165933; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031751 | 25031751 | | | 25031751 | - | | |
NM_139058.3(ARX):c.345CACGGC[3] (p.Ala119_Gly120insThrAla) | 170302 | ARX | Uncertain significance | -1 | RCV002814889; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031755 | 25031756 | | | NC_000023.10:g.25031758CGTGGC[3] | - | | |
NM_139058.3(ARX):c.351C>A (p.Ala117=) | 170302 | ARX | Likely benign | 1313243538 | RCV000650184; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031761 | 25031761 | | | NC_000023.10:g.25031761G>T | ClinGen:CA515947939 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.348G>A (p.Thr116=) | 170302 | ARX | Likely benign | 1601948719 | RCV001412684; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031764 | 25031764 | | | X:g.25031764C>T | - | | |
NM_139058.3(ARX):c.347C>T (p.Thr116Met) | 170302 | ARX | Uncertain significance | -1 | RCV002304434; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031765 | 25031765 | | | 25031765 | - | | |
NM_139058.3(ARX):c.346A>G (p.Thr116Ala) | 170302 | ARX | Uncertain significance | 1449728469 | RCV001341990; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031766 | 25031766 | | | 25031766 | - | | |
NM_139058.3(ARX):c.345_346delinsGG (p.Thr116Ala) | 170302 | ARX | Uncertain significance | 2147324326 | RCV002020074; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031766 | 25031767 | | | 25031766 | - | | |
NM_139058.3(ARX):c.345C>G (p.Ala115=) | 170302 | ARX | Likely benign | 2147324328 | RCV001439360; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031767 | 25031767 | | | 25031767 | - | | |
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) | 170302 | ARX | Pathogenic | 1365611175 | RCV000011953|RCV001851801; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031770 | 25031771 | | | X:g.25031770_25031771insGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCC | OMIM:300382.0017 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.342C>G (p.Ala114=) | 170302 | ARX | Likely benign | 2147324330 | RCV001475776; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031770 | 25031770 | | | 25031770 | - | | |
NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del) | 170302 | ARX | Uncertain significance | 1470521514 | RCV000650178; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031771 | 25031791 | | | NC_000023.10:g.25031776_25031796del | ClinGen:CA658799628 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del) | 170302 | ARX | Uncertain significance | 2147324337 | RCV002019693|RCV003230724; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374 | X | 25031771 | 25031788 | | | 25031770 | - | | |
NM_139058.3(ARX):c.336_338del (p.Ala115del) | 170302 | ARX | Uncertain significance | 2048713322 | RCV001348800; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031774 | 25031776 | | | 25031773 | - | | |
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) | 170302 | ARX | Pathogenic/Likely pathogenic | 387906492 | RCV000011936|RCV000193540|RCV000399003|RCV000456891|RCV002316190|RCV003323356; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452|MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen | X | 25031776 | 25031777 | | | X:g.25031776_25031777insGCCGCCGCCGCCGCCGCCGCC | ClinGen:CA213330,OMIM:300382.0001 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup) | 170302 | ARX | Uncertain significance | 387906492 | RCV000175970|RCV001214290; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031776 | 25031777 | | | X:g.25031776_25031777insGCCGCCGCC | ClinGen:CA241827 | CN169374 not specified; | |
NM_139058.3(ARX):c.336A>G (p.Ala112=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 794727308 | RCV000175971|RCV001082850; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031776 | 25031776 | | | X:g.25031776T>C | ClinGen:CA241829 | CN169374 not specified; | |
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup) | 170302 | ARX | Pathogenic | 387906492 | RCV000192640|RCV000798531; | N | MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031776 | 25031777 | | | NC_000023.10:g.25031777_25031800dup | ClinGen:CA213320 | C1846171 300215 Lissencephaly 2, X-linked; | |
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup) | 170302 | ARX | Conflicting interpretations of pathogenicity | 387906492 | RCV000537872|RCV001712445|RCV002455920; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | X | 25031776 | 25031777 | | | NC_000023.10:g.25031779CGC[12] | ClinGen:CA16621353 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) | 170302 | ARX | Benign/Likely benign | 387906492 | RCV000145053|RCV000228763|RCV002453466; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031777 | 25031782 | | | X:g.25031777_25031782del | ClinGen:CA171152 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) | 170302 | ARX | Conflicting interpretations of pathogenicity | 387906492 | RCV000145054|RCV000152797|RCV000624905|RCV000990556|RCV001081429|RCV003422032; | N | MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777| | X | 25031777 | 25031779 | | | X:g.25031776_25031777insGCC | ClinGen:CA171154 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del) | 170302 | ARX | Conflicting interpretations of pathogenicity | 387906492 | RCV000724599|RCV000812572|RCV002444704; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031777 | 25031788 | | | NC_000023.10:g.25031779CGC[6] | ClinGen:CA241825 | CN169374 not specified; | |
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del) | 170302 | ARX | Benign/Likely benign | 387906492 | RCV000471578|RCV001704579|RCV001821378|RCV002313230; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123 | X | 25031777 | 25031779 | | | NC_000023.10:g.25031779CGC[9] | ClinGen:CA16616470 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del) | 170302 | ARX | Conflicting interpretations of pathogenicity | 387906492 | RCV000557851|RCV001697315|RCV002448773; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | X | 25031777 | 25031785 | | | X:g.25031777_25031785del | ClinGen:CA641364635 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del) | 170302 | ARX | Uncertain significance | 387906492 | RCV000543172|RCV002483482; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083; MONDO:MONDO:0010632, | X | 25031777 | 25031794 | | | NC_000023.10:g.25031779CGC[4] | ClinGen:CA658656857 | | |
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del) | 170302 | ARX | Conflicting interpretations of pathogenicity | 387906492 | RCV000722506|RCV001868920; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031777 | 25031791 | | | NC_000023.10:g.25031779CGC[5] | - | | |
NM_139058.3(ARX):c.306GGC[3] (p.Ala109_Ala115del) | 170302 | ARX | Uncertain significance | 387906492 | RCV001913988; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031777 | 25031797 | | | 25031776 | - | | |
NM_139058.3(ARX):c.330G>C (p.Ala110=) | 170302 | ARX | Likely benign | 1416343691 | RCV001440172; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031782 | 25031782 | | | 25031782 | - | | |
NM_139058.3(ARX):c.327G>A (p.Ala109=) | 170302 | ARX | Likely benign | 1340239089 | RCV001427747; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031785 | 25031785 | | | 25031785 | - | | |
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup) | 170302 | ARX | Pathogenic/Likely pathogenic | 2147324381 | RCV002290701|RCV001383076|RCV001788467; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900 | X | 25031788 | 25031789 | | | 25031788 | - | | |
NM_139058.3(ARX):c.318G>C (p.Ala106=) | 170302 | ARX | Likely benign | 997762920 | RCV001457390; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031794 | 25031794 | | | X:g.25031794C>G | - | | |
NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del) | 170302 | ARX | Conflicting interpretations of pathogenicity | 1156871090 | RCV001244937|RCV002436965; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031795 | 25031809 | | | X:g.25031795_25031809del | - | | |
NM_139058.3(ARX):c.315G>A (p.Ala105=) | 170302 | ARX | Likely benign | 2048713533 | RCV001402492|RCV003438767; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | X | 25031797 | 25031797 | | | 25031797 | - | | |
NM_139058.3(ARX):c.312G>A (p.Ala104=) | 170302 | ARX | Likely benign | 1419161057 | RCV001423606; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031800 | 25031800 | | | 25031800 | - | | |
NM_139058.3(ARX):c.312G>T (p.Ala104=) | 170302 | ARX | Likely benign | -1 | RCV002957739; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031800 | 25031800 | | | | - | | |
NM_139058.3(ARX):c.303_308del (p.Ala114_Ala115del) | 170302 | ARX | Likely benign | -1 | RCV002629855; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031804 | 25031809 | | | NC_000023.10:g.25031809_25031814del | - | | |
NM_139058.3(ARX):c.306G>T (p.Ala102=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 587783196 | RCV000145052|RCV000734606|RCV001087726|RCV002444600; | N | MedGen:CN221281|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031806 | 25031806 | | | X:g.25031806C>A | ClinGen:CA171150 | CN221281 epileptic encephalopathy, early infanitle, 1; | |
NM_139058.3(ARX):c.306G>A (p.Ala102=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 587783196 | RCV000598157|RCV002062093|RCV002317343; | N | MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | X | 25031806 | 25031806 | | | X:g.25031806C>T | ClinGen:CA515948096 | CN169374 not specified; | |
NM_139058.3(ARX):c.303_305del (p.Ala115del) | 170302 | ARX | Likely benign | -1 | RCV002922077; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031807 | 25031809 | | | NC_000023.10:g.25031809_25031811del | - | | |
NM_139058.3(ARX):c.303A>G (p.Ala101=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 797045295 | RCV000193562|RCV001432671|RCV001721247|RCV002444775; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | X | 25031809 | 25031809 | | | NC_000023.10:g.25031809T>C | ClinGen:CA207126 | CN169374 not specified; | |
NM_139058.3(ARX):c.300G>A (p.Ala100=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 797045294 | RCV000192540|RCV000725344|RCV001089016; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031812 | 25031812 | | | X:g.25031812C>T | ClinGen:CA205423 | CN169374 not specified; | |
NM_139058.3(ARX):c.300G>C (p.Ala100=) | 170302 | ARX | Likely benign | -1 | RCV002570988; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031812 | 25031812 | | | | - | | |
NM_139058.3(ARX):c.294G>A (p.Gln98=) | 170302 | ARX | Likely benign | -1 | RCV003011597; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031818 | 25031818 | | | | - | | |
NM_139058.3(ARX):c.291T>C (p.Leu97=) | 170302 | ARX | Conflicting interpretations of pathogenicity | 2147324418 | RCV002153265|RCV003138093; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | X | 25031821 | 25031821 | | | 25031821 | - | | |
NM_139058.3(ARX):c.279G>A (p.Gly93=) | 170302 | ARX | Likely benign | 1299202405 | RCV001437730; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031833 | 25031833 | | | X:g.25031833C>T | - | | |
NM_139058.3(ARX):c.279G>T (p.Gly93=) | 170302 | ARX | Likely benign | -1 | RCV003086807; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031833 | 25031833 | | | | - | | |
NM_139058.3(ARX):c.274G>C (p.Gly92Arg) | 170302 | ARX | Uncertain significance | 2048713809 | RCV001319051; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031838 | 25031838 | | | 25031838 | - | | |
NM_139058.3(ARX):c.273G>C (p.Pro91=) | 170302 | ARX | Likely benign | -1 | RCV003044784; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031839 | 25031839 | | | | - | | |
NM_139058.3(ARX):c.268G>C (p.Gly90Arg) | 170302 | ARX | Uncertain significance | -1 | RCV002979857; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031844 | 25031844 | | | NC_000023.10:g.25031844C>G | - | | |
NM_139058.3(ARX):c.267C>T (p.Tyr89=) | 170302 | ARX | Likely benign | 1060504805 | RCV001469240; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031845 | 25031845 | | | NC_000023.10:g.25031845G>A | ClinGen:CA16616660 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.264G>A (p.Leu88=) | 170302 | ARX | Likely benign | 1556056513 | RCV000650189; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031848 | 25031848 | | | NC_000023.10:g.25031848C>T | ClinGen:CA515749131 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) | 170302 | ARX | Uncertain significance | 786203995 | RCV000167561|RCV002492677; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083; MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MON | X | 25031852 | 25031852 | | | X:g.25031852C>G | ClinGen:CA235597 | CN517202 not provided; | |
NM_139058.3(ARX):c.250A>C (p.Lys84Gln) | 170302 | ARX | Uncertain significance | 2048713939 | RCV001236434; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031862 | 25031862 | | | X:g.25031862T>G | - | | |
NM_139058.3(ARX):c.241C>T (p.Leu81=) | 170302 | ARX | Likely benign | 1601948822 | RCV001483794; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031871 | 25031871 | | | X:g.25031871G>A | - | | |
NM_139058.3(ARX):c.237G>A (p.Leu79=) | 170302 | ARX | Likely benign | 1212876092 | RCV002147259|RCV002454482; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031875 | 25031875 | | | 25031875 | - | | |
NM_139058.3(ARX):c.229G>A (p.Ala77Thr) | 170302 | ARX | Uncertain significance | -1 | RCV003224705; | N | MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010268 | X | 25031883 | 25031883 | | | | - | | |
NM_139058.3(ARX):c.227A>G (p.Glu76Gly) | 170302 | ARX | Uncertain significance | 2147324478 | RCV001360248; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031885 | 25031885 | | | 25031885 | - | | |
NM_139058.3(ARX):c.223T>G (p.Phe75Val) | 170302 | ARX | Conflicting interpretations of pathogenicity | 999545482 | RCV000466760|RCV000440603|RCV000623849; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | X | 25031889 | 25031889 | | | X:g.25031889A>C | ClinGen:CA16603279 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.222G>A (p.Pro74=) | 170302 | ARX | Likely benign | 2048714056 | RCV001491159; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25031890 | 25031890 | | | 25031890 | - | | |
NM_139058.3(ARX):c.220C>G (p.Pro74Ala) | 170302 | ARX | Uncertain significance | -1 | RCV002942121; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031892 | 25031892 | | | NC_000023.10:g.25031892G>C | - | | |
NM_139058.3(ARX):c.216C>T (p.Ser72=) | 170302 | ARX | Likely benign | -1 | RCV003031726; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031896 | 25031896 | | | | - | | |
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) | 170302 | ARX | Conflicting interpretations of pathogenicity | 1556056580 | RCV000650177|RCV002424522; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031897 | 25031897 | | | NC_000023.10:g.25031897C>G | ClinGen:CA412613636 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.213C>A (p.Ser71Arg) | 170302 | ARX | Uncertain significance | -1 | RCV002909376; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031899 | 25031899 | | | NC_000023.10:g.25031899G>T | - | | |
NM_139058.3(ARX):c.211A>T (p.Ser71Cys) | 170302 | ARX | Conflicting interpretations of pathogenicity | 587783194 | RCV000145050|RCV000766468|RCV001339860|RCV003242987; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25031901 | 25031901 | | | NC_000023.10:g.25031901T>A | ClinGen:CA233285 | CN169374 not specified; | |
NM_139058.3(ARX):c.197-5C>T | 170302 | ARX | Likely benign | -1 | RCV002872748; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25031920 | 25031920 | | | NC_000023.10:g.25031920G>A | - | | |
NM_139058.3(ARX):c.196+14C>G | 170302 | ARX | Likely benign | 377487471 | RCV002157575; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033645 | 25033645 | | | 25033645 | - | | |
NM_139058.3(ARX):c.196+6G>A | 170302 | ARX | Uncertain significance | -1 | RCV002663264; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25033653 | 25033653 | | | NC_000023.10:g.25033653C>T | - | | |
NM_139058.3(ARX):c.195A>G (p.Gln65=) | 170302 | ARX | Uncertain significance | -1 | RCV003049370; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25033660 | 25033660 | | | | - | | |
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) | 170302 | ARX | Conflicting interpretations of pathogenicity | 769996976 | RCV000705004|RCV000779753|RCV000764874|RCV001544836; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452; MONDO: | X | 25033668 | 25033668 | | | NC_000023.10:g.25033668C>T | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.186G>C (p.Lys62Asn) | 170302 | ARX | Uncertain significance | 2048723387 | RCV002026898; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033669 | 25033669 | | | 25033669 | - | | |
NM_139058.3(ARX):c.180G>T (p.Pro60=) | 170302 | ARX | Likely benign | -1 | RCV002952742; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033675 | 25033675 | | | | - | | |
NM_139058.3(ARX):c.179C>T (p.Pro60Leu) | 170302 | ARX | Uncertain significance | 1335616654 | RCV001222190; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25033676 | 25033676 | | | X:g.25033676G>A | - | | |
NM_139058.3(ARX):c.179C>G (p.Pro60Arg) | 170302 | ARX | Likely benign | 1335616654 | RCV002193084; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033676 | 25033676 | | | 25033676 | - | | |
NM_139058.3(ARX):c.158C>G (p.Pro53Arg) | 170302 | ARX | Uncertain significance | 1329228660 | RCV000821411; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033697 | 25033697 | | | X:g.25033697G>C | - | | |
NM_139058.3(ARX):c.155C>A (p.Ala52Asp) | 170302 | ARX | Uncertain significance | 2048723704 | RCV001231991; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25033700 | 25033700 | | | X:g.25033700G>T | - | | |
NM_139058.3(ARX):c.152C>G (p.Pro51Arg) | 170302 | ARX | Uncertain significance | -1 | RCV003083578; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033703 | 25033703 | | | NC_000023.10:g.25033703G>C | - | | |
NM_139058.3(ARX):c.148T>C (p.Leu50=) | 170302 | ARX | Benign/Likely benign | 370342380 | RCV000233804|RCV001705292|RCV001820772; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MedGen:CN169374 | X | 25033707 | 25033707 | | | NC_000023.10:g.25033707A>G | ClinGen:CA10373909 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.138C>A (p.Ala46=) | 170302 | ARX | Likely benign | -1 | RCV002975604; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033717 | 25033717 | | | | - | | |
NM_139058.3(ARX):c.137C>A (p.Ala46Asp) | 170302 | ARX | Likely benign | 753049882 | RCV001443658|RCV002560312; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25033718 | 25033718 | | | 25033718 | - | | |
NM_139058.3(ARX):c.137C>T (p.Ala46Val) | 170302 | ARX | Uncertain significance | -1 | RCV002938650; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033718 | 25033718 | | | NC_000023.10:g.25033718G>A | - | | |
NM_139058.3(ARX):c.125G>C (p.Arg42Pro) | 170302 | ARX | Likely benign | 763796730 | RCV002109409; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033730 | 25033730 | | | 25033730 | - | | |
NM_139058.3(ARX):c.124C>A (p.Arg42=) | 170302 | ARX | Likely benign | 866153168 | RCV002086882; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033731 | 25033731 | | | 25033731 | - | | |
NM_139058.3(ARX):c.121A>C (p.Met41Leu) | 170302 | ARX | Uncertain significance | 2147325425 | RCV001809280; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25033734 | 25033734 | | | 25033734 | - | | |
NM_139058.3(ARX):c.99G>A (p.Leu33=) | 170302 | ARX | Benign | 756804509 | RCV001511062; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033756 | 25033756 | | | 25033756 | - | | |
NM_139058.3(ARX):c.91A>C (p.Ser31Arg) | 170302 | ARX | Uncertain significance | 878853107 | RCV000224602|RCV000819987|RCV002516241; | N | MedGen:CN517202|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | X | 25033764 | 25033764 | | | NC_000023.10:g.25033764T>G | ClinGen:CA10581420 | CN517202 not provided; | |
NM_139058.3(ARX):c.87C>G (p.Ile29Met) | 170302 | ARX | Uncertain significance | 148694386 | RCV000695215; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033768 | 25033768 | | | NC_000023.10:g.25033768G>C | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.86T>C (p.Ile29Thr) | 170302 | ARX | Uncertain significance | 2147325441 | RCV001977337; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033769 | 25033769 | | | 25033769 | - | | |
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) | 170302 | ARX | Likely pathogenic | 932485786 | RCV000785913; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25033771 | 25033771 | | | X:g.25033771G>T | - | | |
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) | 170302 | ARX | Pathogenic/Likely pathogenic | 398122854 | RCV000022856|RCV001542511; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033774 | 25033774 | | | X:g.25033774G>C | ClinGen:CA128800,OMIM:300382.0023 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser) | 170302 | ARX | Uncertain significance | 2048724116 | RCV001332909; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25033775 | 25033775 | | | 25033775 | - | | |
NM_139058.3(ARX):c.61C>G (p.Pro21Ala) | 170302 | ARX | Uncertain significance | 1601949554 | RCV001916893; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25033794 | 25033794 | | | 25033794 | - | | |
NM_139058.3(ARX):c.44A>G (p.Glu15Gly) | 170302 | ARX | Uncertain significance | -1 | RCV003018919; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033811 | 25033811 | | | NC_000023.10:g.25033811T>C | - | | |
NM_139058.3(ARX):c.42C>G (p.Pro14=) | 170302 | ARX | Likely benign | 2048724355 | RCV001495974; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033813 | 25033813 | | | 25033813 | - | | |
NM_139058.3(ARX):c.33C>T (p.Ser11=) | 170302 | ARX | Likely benign | -1 | RCV002705483; | N | MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25033822 | 25033822 | | | | - | | |
NM_139058.3(ARX):c.19G>A (p.Glu7Lys) | 170302 | ARX | Uncertain significance | -1 | RCV002629409; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033836 | 25033836 | | | NC_000023.10:g.25033836C>T | - | | |
NM_139058.3(ARX):c.14A>T (p.Tyr5Phe) | 170302 | ARX | Likely benign | -1 | RCV002942628|RCV003170648; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123 | X | 25033841 | 25033841 | | | NC_000023.10:g.25033841T>A | - | | |
NM_139058.3(ARX):c.8A>G (p.Asn3Ser) | 170302 | ARX | Likely benign | 771031915 | RCV001246962; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777 | X | 25033847 | 25033847 | | | X:g.25033847T>C | - | | |
NM_139058.3(ARX):c.1A>T (p.Met1Leu) | 170302 | ARX | Likely pathogenic | -1 | RCV003314520; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 25033854 | 25033854 | | | | - | | |
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) | 773 | CACNA1A | Uncertain significance | 2054617959 | RCV001091780|RCV001169896; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 19 | 13318524 | 13318524 | | | 19:g.13318524G>T | - | | |
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) | 773 | CACNA1A | Conflicting interpretations of pathogenicity | 759331923 | RCV000483584|RCV000791013|RCV001353376; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:HP:0040083,MedGen:C0427144 | 19 | 13319694 | 13319705 | | | NC_000019.9:g.13319696GTG[5] | ClinGen:CA16620770 | CN169374 not specified; | |
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) | 773 | CACNA1A | Conflicting interpretations of pathogenicity | 776584949 | RCV000714690|RCV000714691|RCV000714692|RCV001351528; | N | MONDO:MONDO:0008457,MedGen:C0752124,OMIM:183086, Orphanet:98758|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500, Orphanet:97|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500, Orphanet:97; MONDO:MONDO:0014917,Me | 19 | 13397554 | 13397555 | | | NC_000019.9:g.13397559_13397564dup | - | | |
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) | -1 | CCNF;TBC1D24 | Conflicting interpretations of pathogenicity | 200324356 | RCV000118580|RCV000535912|RCV000661907|RCV000770979|RCV001084019|RCV001120426|RCV002316323; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013826,MedGen:C2829265,OMIM:614617, Orphanet:90636|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546790 | 2546790 | | | 16:g.2546790G>A | ClinGen:CA289069 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys) | 6792 | CDKL5 | Likely pathogenic | -1 | RCV002284133; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 18600022 | 18600022 | | | 18600022 | - | | |
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn) | 1106 | CHD2 | Uncertain significance | -1 | RCV003326099|RCV003327603; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 15 | 93540293 | 93540293 | | | | - | | |
NM_152221.3(CSNK1E):c.885+1G>A | 1454 | CSNK1E | Pathogenic | 1569077009 | RCV000721134; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 22 | 38694790 | 38694790 | | | NC_000022.10:g.38694790C>T | - | | |
NM_004408.4(DNM1):c.1335+1638G>A | 1759 | DNM1 | Pathogenic/Likely pathogenic | 747079285 | RCV000492949|RCV001824808|RCV002286525; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346, Orphanet:2382 | 9 | 130988306 | 130988306 | | | 9:g.130988306G>A | ClinGen:CA645369412,OMIM:602377.0006 | CN169374 not specified; | |
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) | 2562 | GABRB3 | Conflicting interpretations of pathogenicity | 1555401442 | RCV000662203|RCV000662204|RCV003333096; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0020759,MedGen:C1838604,OMIM:600131, Orphanet:64280|MONDO:MONDO:0014921,MedGen:C4310712,OMIM:617113 | 15 | 26806318 | 26806318 | | | NC_000015.9:g.26806318T>C | - | C1838604 600131 Epilepsy, childhood absence 1; | |
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) | 2775 | GNAO1 | Likely pathogenic | 886041766 | RCV000714659|RCV000714660; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0060491,MedGen:C4479569,OMIM:617493 | 16 | 56226486 | 56226486 | | | NC_000016.9:g.56226486G>T | - | | |
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val) | 2902 | GRIN1 | Conflicting interpretations of pathogenicity | 1554770243 | RCV000649654|RCV002283502; | N | MONDO:MONDO:0013655,MedGen:C3280282,OMIM:614254|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 9 | 140057105 | 140057105 | | | 9:g.140057105A>G | ClinGen:CA375720687 | C3280282 614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; | |
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) | 3192 | HNRNPU | Pathogenic | 1057524584 | RCV000424048|RCV001824767; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 1 | 245027257 | 245027257 | | | 1:g.245027257G>T | ClinGen:CA16603678 | CN517202 not provided; | |
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu) | 3737 | KCNA2 | Likely pathogenic | 764822052 | RCV001527627; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 1 | 111146499 | 111146499 | | | 111146499 | - | | |
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) | 3737 | KCNA2 | Pathogenic | 786205232 | RCV000170514|RCV000264400|RCV000622743|RCV001252020|RCV001374910; | N | MONDO:MONDO:0014607,MedGen:C4225350,OMIM:616366, Orphanet:442835|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 | 1 | 111146515 | 111146515 | | | 1:g.111146515C>T | ClinGen:CA199675,UniProtKB:P16389#VAR_073705,OMIM:176262.0004 | C4225350 616366 Epileptic encephalopathy, early infantile, 32; | |
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) | 3785 | KCNQ2 | Pathogenic | 796052657 | RCV000187931|RCV000226746|RCV001252033; | N | MedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 20 | 62059777 | 62059777 | | | NC_000020.10:g.62059782del | ClinGen:CA315519 | | |
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) | 3785 | KCNQ2 | Conflicting interpretations of pathogenicity | 2080906453 | RCV001252032|RCV001823009|RCV001799751; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949 | 20 | 62065234 | 62065234 | | | 20:g.62065234G>A | - | | |
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala) | 3785 | KCNQ2 | Likely pathogenic | 2081188385 | RCV001252029; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 20 | 62073788 | 62073788 | | | 20:g.62073788T>C | - | | |
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer) | 3785 | KCNQ2 | Pathogenic | 118192197 | RCV000678081|RCV002269819; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:1949 | 20 | 62076109 | 62076118 | | | 20:g.62076110_62076118del | OMIM:602235.0009 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn) | 3785 | KCNQ2 | Pathogenic | 2082232988 | RCV001252031; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 20 | 62103531 | 62103531 | | | 20:g.62103531G>T | - | | |
NM_022080.3(NAPB):c.421-1G>A | 63908 | NAPB | Conflicting interpretations of pathogenicity | 1983849974 | RCV001257153|RCV002283535; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0031055,MedGen:C5774215,OMIM:620033 | 20 | 23370902 | 23370902 | | | 20:g.23370902C>T | OMIM:611270.0003 | | |
NM_015080.4(NRXN2):c.3176G>A (p.Arg1059Gln) | 9379 | NRXN2 | Uncertain significance | 777033569 | RCV000785661; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 11 | 64416313 | 64416313 | | | 11:g.64416313C>T | - | | |
NM_001100913.3(PACS2):c.1706G>A (p.Arg569Gln) | 23241 | PACS2 | Uncertain significance | -1 | RCV002294565|RCV003097850; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 14 | 105849776 | 105849776 | | | 105849776 | - | | |
NM_001184880.2(PCDH19):c.1151T>G (p.Val384Gly) | 57526 | PCDH19 | Uncertain significance | -1 | RCV002284150; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 99662445 | 99662445 | | | 99662445 | - | | |
NM_015192.4(PLCB1):c.3337-69G>A | 23236 | PLCB1 | Likely benign | 45541432 | RCV000626123; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 20 | 8770753 | 8770753 | | | 20:g.8770753G>A | ClinGen:CA311276733 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_004726.3(REPS2):c.1822C>T (p.Gln608Ter) | 9185 | REPS2 | Uncertain significance | -1 | RCV003338062; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 17156992 | 17156992 | | | | - | | |
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) | 6323 | SCN1A | Pathogenic | 794726730 | RCV000174291|RCV000188886|RCV000534243|RCV001004670|RCV001527645|RCV001824659|RCV002515207; | N | MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MedGen:C3661900|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0011461,MedGen:C1858673,OMIM:604403, Orphanet:36387|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 2 | 166898844 | 166898844 | | | NC_000002.11:g.166898844G>A | ClinGen:CA274966 | C0393706 Early infantile epileptic encephalopathy; | |
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) | 6323 | SCN1A | Conflicting interpretations of pathogenicity | 1574214734 | RCV000791093|RCV000791092|RCV001036370; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233, Orphanet:36387|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934 | 2 | 166900202 | 166900202 | | | 2:g.166900202C>G | - | | |
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs) | 6323 | SCN1A | Pathogenic | 2105983330 | RCV001527643; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 2 | 166930004 | 166930006 | | | 166930004 | - | | |
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val) | 6334 | SCN8A | Likely pathogenic | -1 | RCV002284140; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 12 | 52183182 | 52183182 | | | 52183182 | - | | |
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn) | 8604 | SLC25A12 | Likely pathogenic | 2105837590 | RCV002274449; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 2 | 172648056 | 172648056 | | | 172648056 | - | | |
NM_006516.4(SLC2A1):c.197_198delinsAA (p.Ser66Ter) | 6513 | SLC2A1 | Pathogenic | -1 | RCV002284144; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 1 | 43396794 | 43396795 | | | 43396794 | - | | |
NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu) | 7355 | SLC35A2 | Uncertain significance | 1557042706 | RCV000626159; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | X | 48762119 | 48762120 | | | X:g.48762119_48762120insAGAGGC | ClinGen:CA658799741 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys) | 6487 | ST3GAL3 | Uncertain significance | 1448699021 | RCV000784977|RCV001329555; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014003,MedGen:C3554316,OMIM:615006, Orphanet:3451 | 1 | 44365286 | 44365286 | | | 1:g.44365286G>A | - | | |
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) | 8867 | SYNJ1 | Conflicting interpretations of pathogenicity | 114994257 | RCV000784964|RCV000784965|RCV000784966|RCV001523237; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4 | 21 | 34012077 | 34012077 | | | 21:g.34012077G>A | - | | |
NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter) | 8867 | SYNJ1 | Likely pathogenic | 1569075471 | RCV000761360; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 21 | 34045776 | 34045776 | | | NC_000021.8:g.34045776G>A | - | | |
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) | 23334 | SZT2 | Uncertain significance | 775153972 | RCV000714622|RCV000714621|RCV001222205|RCV002316013; | N | MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476, Orphanet:369894|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 1 | 43895716 | 43895716 | | | NC_000001.10:g.43895716G>A | - | | |
NC_000016.9:g.(?_2098597)_(2550979_?)dup | 57465 | TBC1D24 | Uncertain significance | -1 | RCV001308310; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2098597 | 2550979 | | | -1 | - | | |
NC_000016.10:g.(?_2496129)_(2500978_?)del | 57465 | TBC1D24 | Pathogenic | -1 | RCV000537439; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546130 | 2550979 | | | | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NC_000016.9:g.(?_2546130)_(2550979_?)dup | 57465 | TBC1D24 | Uncertain significance | -1 | RCV000811344; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546130 | 2550979 | | | | - | | |
NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val) | 57465 | TBC1D24 | Uncertain significance | 2141870575 | RCV001372620; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546150 | 2546150 | | | 2546150 | - | | |
NC_000016.9:g.(?_2546150)_(2550959_?)del | 57465 | TBC1D24 | Pathogenic | -1 | RCV001896986; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546150 | 2550959 | | | -1 | - | | |
NC_000016.9:g.(?_2546150)_(2550959_?)dup | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003105657; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546150 | 2550959 | | | | - | | |
NM_001199107.2(TBC1D24):c.13G>C (p.Gly5Arg) | 57465 | TBC1D24 | Uncertain significance | 772570554 | RCV000355013|RCV002518122; | N | MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546162 | 2546162 | | | 16:g.2546162G>C | ClinGen:CA7843904 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) | 57465 | TBC1D24 | Benign/Likely benign | 77585883 | RCV000175683|RCV000315686|RCV000553843|RCV001085275|RCV002426842; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2546171 | 2546171 | | | 16:g.2546171T>C | ClinGen:CA201584 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.24C>G (p.Cys8Trp) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002998823; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546173 | 2546173 | | | NC_000016.9:g.2546173C>G | - | | |
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=) | 57465 | TBC1D24 | Likely benign | 759193465 | RCV000443309|RCV001481045; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546176 | 2546176 | | | 16:g.2546176C>T | ClinGen:CA7843907 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) | 57465 | TBC1D24 | Uncertain significance | 767293945 | RCV000800917|RCV001809818|RCV002534661; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596|MeSH:D030342,MedGen:C0950123 | 16 | 2546177 | 2546177 | | | 16:g.2546177G>A | - | | |
NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=) | 57465 | TBC1D24 | Uncertain significance | 752594126 | RCV001351550; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546185 | 2546185 | | | 2546185 | - | | |
NM_001199107.2(TBC1D24):c.39C>T (p.Asp13=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002971925; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546188 | 2546188 | | | | - | | |
NM_001199107.2(TBC1D24):c.45G>C (p.Met15Ile) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002953983; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546194 | 2546194 | | | NC_000016.9:g.2546194G>C | - | | |
NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=) | 57465 | TBC1D24 | Likely benign | 555276293 | RCV001430851|RCV001697866; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900 | 16 | 2546197 | 2546197 | | | 16:g.2546197C>T | ClinGen:CA7843912 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 757359393 | RCV001303275|RCV003426033; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 2546198 | 2546198 | | | 2546198 | - | | |
NM_001199107.2(TBC1D24):c.56del (p.Ile19fs) | 57465 | TBC1D24 | Pathogenic | 2141870681 | RCV001870872; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546205 | 2546205 | | | 2546204 | - | | |
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) | 57465 | TBC1D24 | Pathogenic | 201257588 | RCV000481616|RCV001865442; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546207 | 2546207 | | | 16:g.2546207C>T | ClinGen:CA7843914 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.64C>T (p.Leu22=) | 57465 | TBC1D24 | Likely benign | 746087403 | RCV001467581; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546213 | 2546213 | | | 2546213 | - | | |
NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg) | 57465 | TBC1D24 | Uncertain significance | 2141870701 | RCV001881547|RCV003136253; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900 | 16 | 2546216 | 2546216 | | | 2546216 | - | | |
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu) | 57465 | TBC1D24 | Uncertain significance | 1567410958 | RCV000705303; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546217 | 2546217 | | | NC_000016.9:g.2546217G>A | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.69G>A (p.Gly23=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002947217; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546218 | 2546218 | | | | - | | |
NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu) | 57465 | TBC1D24 | Uncertain significance | 2065735848 | RCV001326630; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546225 | 2546226 | | | 2546225 | - | | |
NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys) | 57465 | TBC1D24 | Uncertain significance | 369120050 | RCV001349965; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546225 | 2546225 | | | 2546225 | - | | |
NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe) | 57465 | TBC1D24 | Uncertain significance | 2065735946 | RCV001338716; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546235 | 2546235 | | | 2546235 | - | | |
NM_001199107.2(TBC1D24):c.87C>T (p.Cys29=) | 57465 | TBC1D24 | Likely benign | 768933496 | RCV002203311; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546236 | 2546236 | | | 2546236 | - | | |
NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala) | 57465 | TBC1D24 | Uncertain significance | 2065736000 | RCV001347979; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546237 | 2546237 | | | 2546237 | - | | |
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 575173753 | RCV000215261|RCV000867066|RCV001118599|RCV001722164; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900 | 16 | 2546239 | 2546239 | | | NC_000016.9:g.2546239T>C | ClinGen:CA7843921 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.94C>T (p.Leu32=) | 57465 | TBC1D24 | Likely benign | 1246835125 | RCV001445593; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546243 | 2546243 | | | 2546243 | - | | |
NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg) | 57465 | TBC1D24 | Uncertain significance | 2141870761 | RCV001772618|RCV001882880; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546244 | 2546244 | | | 2546244 | - | | |
NM_001199107.2(TBC1D24):c.102A>G (p.Glu34=) | 57465 | TBC1D24 | Likely benign | 1178639246 | RCV000651575; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546251 | 2546251 | | | 16:g.2546251A>G | ClinGen:CA493160453 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro) | 57465 | TBC1D24 | Pathogenic | 770363653 | RCV001377313; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546264 | 2546264 | | | 2546264 | - | | |
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 773916549 | RCV000522781|RCV001223084|RCV001775493; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 2546265 | 2546265 | | | 16:g.2546265C>A | ClinGen:CA7843923 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) | 57465 | TBC1D24 | Pathogenic | 773916549 | RCV000533814|RCV001591283; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN517202 | 16 | 2546265 | 2546265 | | | NC_000016.9:g.2546265C>T | ClinGen:CA7843924 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.117G>A (p.Ala39=) | 57465 | TBC1D24 | Likely benign | 537494711 | RCV001468363|RCV001692386; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900 | 16 | 2546266 | 2546266 | | | 2546266 | - | | |
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) | 57465 | TBC1D24 | Pathogenic | 398122966 | RCV000076914|RCV001563390|RCV001854346; | N | MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546267 | 2546267 | | | 16:g.2546267C>T | ClinGen:CA345418,UniProtKB:Q9ULP9#VAR_070913,OMIM:613577.0008 | C1857345 220500 Digitorenocerebral syndrome; | |
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) | 57465 | TBC1D24 | Pathogenic/Likely pathogenic | 760474458 | RCV000192066|RCV001850282; | N | MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546268 | 2546268 | | | NC_000016.9:g.2546268G>T | ClinGen:CA347136 | C1857345 220500 Digitorenocerebral syndrome; | |
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His) | 57465 | TBC1D24 | Pathogenic/Likely pathogenic | 760474458 | RCV001062408|RCV001814264; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:000232 | 16 | 2546268 | 2546268 | | | 16:g.2546268G>A | - | | |
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) | 57465 | TBC1D24 | Pathogenic | 1057524191 | RCV000436259|RCV000697787; | N | MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546270 | 2546270 | | | 16:g.2546270C>T | ClinGen:CA16608135 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) | 57465 | TBC1D24 | Pathogenic | 1567411053 | RCV000728495|RCV001862149; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546280 | 2546280 | | | NC_000016.9:g.2546280G>A | - | | |
NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter) | 57465 | TBC1D24 | Pathogenic | -1 | RCV003073373; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546281 | 2546281 | | | NC_000016.9:g.2546281G>A | - | | |
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu) | 57465 | TBC1D24 | Uncertain significance | 761844771 | RCV000804194; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546292 | 2546292 | | | 16:g.2546292A>T | - | | |
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln) | 57465 | TBC1D24 | Uncertain significance | 765396824 | RCV001063912|RCV001195521; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN169374 | 16 | 2546293 | 2546293 | | | 16:g.2546293C>G | - | | |
NM_001199107.2(TBC1D24):c.144C>T (p.His48=) | 57465 | TBC1D24 | Likely benign | 765396824 | RCV001402793; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546293 | 2546293 | | | 2546293 | - | | |
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr) | 57465 | TBC1D24 | Uncertain significance | 758665573 | RCV000379638|RCV002522838; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546294 | 2546294 | | | NC_000016.9:g.2546294G>A | ClinGen:CA7843932 | C0917800 605021 Myoclonic epilepsy, familial infantile; | |
NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln) | 57465 | TBC1D24 | Uncertain significance | 780286465 | RCV001302839; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546301 | 2546301 | | | 2546301 | - | | |
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg) | 57465 | TBC1D24 | Uncertain significance | 751753013 | RCV000792896|RCV001840732; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 2546303 | 2546303 | | | 16:g.2546303G>A | - | | |
NM_001199107.2(TBC1D24):c.155G>A (p.Gly52Glu) | 57465 | TBC1D24 | Uncertain significance | 755313242 | RCV001933222; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546304 | 2546304 | | | 2546304 | - | | |
NM_001199107.2(TBC1D24):c.160G>T (p.Val54Leu) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002296617; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546309 | 2546309 | | | 2546309 | - | | |
NM_001199107.2(TBC1D24):c.162G>A (p.Val54=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002949323; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546311 | 2546311 | | | | - | | |
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu) | 57465 | TBC1D24 | Uncertain significance | 2141870903 | RCV001758652|RCV001868506; | N | MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546316 | 2546316 | | | 2546316 | - | | |
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 202162520 | RCV000189679|RCV000340164|RCV000585579|RCV000656037|RCV001084629|RCV002314614; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:61 | 16 | 2546318 | 2546318 | | | 16:g.2546318C>T | ClinGen:CA241775 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) | 57465 | TBC1D24 | Pathogenic | 1555501140 | RCV000651566; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546320 | 2546320 | | | NC_000016.9:g.2546321del | ClinGen:CA620709056 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 373914077 | RCV000189704|RCV000704370|RCV002399704; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2546327 | 2546327 | | | NC_000016.9:g.2546327C>T | ClinGen:CA319072 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 200226466 | RCV000189705|RCV000431937|RCV000651565|RCV001120140|RCV002408852|RCV003401034; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123| | 16 | 2546328 | 2546328 | | | NC_000016.9:g.2546328G>A | ClinGen:CA319074 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.181G>T (p.Asp61Tyr) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003051963; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546330 | 2546330 | | | NC_000016.9:g.2546330G>T | - | | |
NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser) | 57465 | TBC1D24 | Uncertain significance | 952274725 | RCV001041006; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546336 | 2546336 | | | 16:g.2546336C>T | - | | |
NM_001199107.2(TBC1D24):c.192C>T (p.Cys64=) | 57465 | TBC1D24 | Likely benign | 878854271 | RCV001504900; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546341 | 2546341 | | | 16:g.2546341C>T | ClinGen:CA10583389 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 750421791 | RCV001212453|RCV001586055|RCV002411784; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 16 | 2546342 | 2546342 | | | 16:g.2546342C>T | - | | |
NM_001199107.2(TBC1D24):c.194G>A (p.Arg65His) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002994489; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546343 | 2546343 | | | NC_000016.9:g.2546343G>A | - | | |
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met) | 57465 | TBC1D24 | Uncertain significance | 371245371 | RCV001566577|RCV001043733; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546346 | 2546346 | | | 16:g.2546346C>T | - | | |
NM_001199107.2(TBC1D24):c.197C>G (p.Thr66Arg) | 57465 | TBC1D24 | Uncertain significance | 371245371 | RCV002008804; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546346 | 2546346 | | | 2546346 | - | | |
NM_001199107.2(TBC1D24):c.198G>A (p.Thr66=) | 57465 | TBC1D24 | Likely benign | 373088306 | RCV000695504; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546347 | 2546347 | | | NC_000016.9:g.2546347G>A | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu) | 57465 | TBC1D24 | Uncertain significance | 751738454 | RCV001991800|RCV003238888|RCV003250396; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2546348 | 2546348 | | | 2546348 | - | | |
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg) | 57465 | TBC1D24 | Uncertain significance | 866586869 | RCV001037317; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546352 | 2546352 | | | 16:g.2546352C>G | - | | |
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) | 57465 | TBC1D24 | Benign/Likely benign | 201374999 | RCV000128363|RCV000376259|RCV000467479|RCV001529565|RCV002312622; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2546353 | 2546353 | | | NC_000016.9:g.2546353G>A | ClinGen:CA293860 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) | 57465 | TBC1D24 | Benign | 13339237 | RCV000118579|RCV000291158|RCV000472833|RCV002312511; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2546356 | 2546356 | | | 16:g.2546356T>C | ClinGen:CA289066 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=) | 57465 | TBC1D24 | Likely benign | 373872223 | RCV000458407|RCV001721535|RCV002418465; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2546359 | 2546359 | | | NC_000016.9:g.2546359C>T | ClinGen:CA7843950 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr) | 57465 | TBC1D24 | Uncertain significance | 756581138 | RCV001052355; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546360 | 2546360 | | | 16:g.2546360G>A | - | | |
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=) | 57465 | TBC1D24 | Likely benign | 778212970 | RCV000221689|RCV000470416; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546362 | 2546362 | | | NC_000016.9:g.2546362C>T | ClinGen:CA7843952 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.215G>A (p.Ser72Asn) | 57465 | TBC1D24 | Uncertain significance | 2141871042 | RCV001922136; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546364 | 2546364 | | | 2546364 | - | | |
NM_001199107.2(TBC1D24):c.216C>T (p.Ser72=) | 57465 | TBC1D24 | Likely benign | 749814291 | RCV002039335; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546365 | 2546365 | | | 2546365 | - | | |
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) | 57465 | TBC1D24 | Uncertain significance | 370078844 | RCV000811679|RCV001576610|RCV002495125|RCV002424907; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202|6 conditions|MeSH:D030342,MedGen:C0950123 | 16 | 2546366 | 2546366 | | | 16:g.2546366G>A | - | | |
NM_001199107.2(TBC1D24):c.225C>T (p.Ser75=) | 57465 | TBC1D24 | Likely benign | 201220026 | RCV000603645|RCV001425114; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546374 | 2546374 | | | 16:g.2546374C>T | ClinGen:CA7843956 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn) | 57465 | TBC1D24 | Uncertain significance | 979223146 | RCV000808342; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546375 | 2546375 | | | 16:g.2546375G>A | - | | |
NM_001199107.2(TBC1D24):c.227A>G (p.Asp76Gly) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002297768; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546376 | 2546376 | | | 2546376 | - | | |
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 761918906 | RCV000478982|RCV000808206|RCV001044367|RCV002311804; | N | MedGen:C3661900|MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105, Orphanet:163727|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2546378 | 2546389 | | | NC_000016.9:g.2546378ATCGTGGGCAAG[1] | ClinGen:CA7843957,OMIM:613577.0017 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.231C>T (p.Ile77=) | 57465 | TBC1D24 | Likely benign | 375578380 | RCV002540884; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546380 | 2546380 | | | 16:g.2546380C>T | - | | |
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) | 57465 | TBC1D24 | Uncertain significance | 776539630 | RCV000346114|RCV001041152; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546381 | 2546381 | | | NC_000016.9:g.2546381G>A | ClinGen:CA7843959 | C0917800 605021 Myoclonic epilepsy, familial infantile; | |
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) | 57465 | TBC1D24 | Likely benign | 745405784 | RCV000436316|RCV000866451|RCV001400068; | N | MedGen:CN169374|MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546392 | 2546392 | | | 16:g.2546392C>T | ClinGen:CA16608137 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu) | 57465 | TBC1D24 | Uncertain significance | 747915584 | RCV000796700; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546393 | 2546393 | | | 16:g.2546393G>T | - | | |
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met) | 57465 | TBC1D24 | Uncertain significance | 747915584 | RCV001221858|RCV001120141; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582 | 16 | 2546393 | 2546393 | | | 16:g.2546393G>A | - | | |
NM_001199107.2(TBC1D24):c.247G>T (p.Gly83Cys) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003032299; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546396 | 2546396 | | | NC_000016.9:g.2546396G>T | - | | |
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr) | 57465 | TBC1D24 | Uncertain significance | 2065739166 | RCV001055715; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546402 | 2546402 | | | 16:g.2546402C>T | - | | |
NM_001199107.2(TBC1D24):c.253C>G (p.His85Asp) | 57465 | TBC1D24 | Uncertain significance | 2065739166 | RCV001314850; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546402 | 2546402 | | | 2546402 | - | | |
NM_001199107.2(TBC1D24):c.257G>A (p.Ser86Asn) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002452830|RCV003101989; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546406 | 2546406 | | | 2546406 | - | | |
NM_001199107.2(TBC1D24):c.259A>G (p.Ser87Gly) | 57465 | TBC1D24 | Uncertain significance | 2065739291 | RCV001301782; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546408 | 2546408 | | | 2546408 | - | | |
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn) | 57465 | TBC1D24 | Uncertain significance | 2065739388 | RCV001225479; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546412 | 2546412 | | | 16:g.2546412G>A | - | | |
NM_001199107.2(TBC1D24):c.264C>T (p.Ser88=) | 57465 | TBC1D24 | Likely benign | 2141871200 | RCV001406681; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546413 | 2546413 | | | 2546413 | - | | |
NM_001199107.2(TBC1D24):c.270_286del (p.Pro91fs) | 57465 | TBC1D24 | Pathogenic | -1 | RCV003051981; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546419 | 2546435 | | | NC_000016.9:g.2546419_2546435del | - | | |
NM_001199107.2(TBC1D24):c.272C>T (p.Pro91Leu) | 57465 | TBC1D24 | Uncertain significance | 543224888 | RCV001092723|RCV001370017; | N | MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546421 | 2546421 | | | 16:g.2546421C>T | - | | |
NM_001199107.2(TBC1D24):c.273G>A (p.Pro91=) | 57465 | TBC1D24 | Likely benign | 762804146 | RCV001481354|RCV002439150; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2546422 | 2546422 | | | 2546422 | - | | |
NM_001199107.2(TBC1D24):c.274C>T (p.Leu92=) | 57465 | TBC1D24 | Likely benign | -1 | RCV003043753; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546423 | 2546423 | | | | - | | |
NM_001199107.2(TBC1D24):c.279C>T (p.Pro93=) | 57465 | TBC1D24 | Likely benign | 1021608042 | RCV002133666; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546428 | 2546428 | | | 2546428 | - | | |
NM_001199107.2(TBC1D24):c.280G>A (p.Glu94Lys) | 57465 | TBC1D24 | Uncertain significance | 1343535255 | RCV002035830; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546429 | 2546429 | | | 2546429 | - | | |
NM_001199107.2(TBC1D24):c.284T>C (p.Phe95Ser) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003040043; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546433 | 2546433 | | | NC_000016.9:g.2546433T>C | - | | |
NM_001199107.2(TBC1D24):c.285C>T (p.Phe95=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 774354974 | RCV000487982|RCV002063826|RCV002313261; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2546434 | 2546434 | | | 16:g.2546434C>T | ClinGen:CA7843965 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=) | 57465 | TBC1D24 | Likely benign | 767766165 | RCV000604228|RCV000871831|RCV001726267; | N | MedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900 | 16 | 2546446 | 2546446 | | | 16:g.2546446G>A | ClinGen:CA7843967 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.312C>T (p.Tyr104=) | 57465 | TBC1D24 | Likely benign | 754301066 | RCV000601837|RCV002063159; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546461 | 2546461 | | | 16:g.2546461C>T | ClinGen:CA7843971 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.317T>A (p.Leu106Gln) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003006457; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546466 | 2546466 | | | NC_000016.9:g.2546466T>A | - | | |
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) | 57465 | TBC1D24 | Likely pathogenic | 1057524192 | RCV000418994|RCV001049900; | N | MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546470 | 2546470 | | | 16:g.2546470T>A | ClinGen:CA16608138 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly) | 57465 | TBC1D24 | Uncertain significance | 372337277 | RCV000542284; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546474 | 2546474 | | | NC_000016.9:g.2546474C>G | ClinGen:CA7843972 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) | 57465 | TBC1D24 | Uncertain significance | 372337277 | RCV000984950|RCV001306123|RCV003413770; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805| | 16 | 2546474 | 2546474 | | | 16:g.2546474C>T | - | | |
NM_001199107.2(TBC1D24):c.325C>A (p.Arg109Ser) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002298098; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546474 | 2546474 | | | 2546474 | - | | |
NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His) | 57465 | TBC1D24 | Uncertain significance | 746543920 | RCV000996169|RCV001120420|RCV001372600; | N | MedGen:C3661900|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546475 | 2546475 | | | 16:g.2546475G>A | - | | |
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=) | 57465 | TBC1D24 | Likely benign | 754551693 | RCV000218340|RCV000651576|RCV003417770; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900 | 16 | 2546476 | 2546476 | | | NC_000016.9:g.2546476C>T | ClinGen:CA7843976 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 747821285 | RCV000192068|RCV000420758|RCV000554753; | N | MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546477 | 2546477 | | | NC_000016.9:g.2546477G>A | ClinGen:CA347140,UniProtKB:Q9ULP9#VAR_070914 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=) | 57465 | TBC1D24 | Likely benign | 779117497 | RCV000214990|RCV001365597; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546479 | 2546479 | | | NC_000016.9:g.2546479C>T | ClinGen:CA7843977 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys) | 57465 | TBC1D24 | Uncertain significance | 773211471 | RCV000819375|RCV001120421|RCV002051897; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN517202 | 16 | 2546480 | 2546480 | | | 16:g.2546480G>A | - | | |
NM_001199107.2(TBC1D24):c.331G>C (p.Glu111Gln) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003063073; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546480 | 2546480 | | | NC_000016.9:g.2546480G>C | - | | |
NM_001199107.2(TBC1D24):c.333G>A (p.Glu111=) | 57465 | TBC1D24 | Likely benign | 749237671 | RCV000529868; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546482 | 2546482 | | | 16:g.2546482G>A | ClinGen:CA7843979 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.333G>T (p.Glu111Asp) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002301611; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546482 | 2546482 | | | 2546482 | - | | |
NM_001199107.2(TBC1D24):c.339C>A (p.Ala113=) | 57465 | TBC1D24 | Likely benign | -1 | RCV003045791; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546488 | 2546488 | | | | - | | |
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met) | 57465 | TBC1D24 | Uncertain significance | 368575199 | RCV000189681|RCV001039085; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546489 | 2546489 | | | 16:g.2546489G>A | ClinGen:CA319013 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) | 57465 | TBC1D24 | Uncertain significance | 372531999 | RCV000189682|RCV001058657|RCV002314767; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2546492 | 2546492 | | | NC_000016.9:g.2546492C>T | ClinGen:CA319015 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 201174513 | RCV000189683|RCV000529645|RCV000766892; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900 | 16 | 2546493 | 2546493 | | | NC_000016.9:g.2546493G>A | ClinGen:CA319018 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.348G>A (p.Lys116=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002967751; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546497 | 2546497 | | | | - | | |
NM_001199107.2(TBC1D24):c.352C>T (p.Leu118Phe) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003022717; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546501 | 2546501 | | | NC_000016.9:g.2546501C>T | - | | |
NM_001199107.2(TBC1D24):c.354C>G (p.Leu118=) | 57465 | TBC1D24 | Likely benign | 2141871420 | RCV002188689; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546503 | 2546503 | | | 2546503 | - | | |
NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser) | 57465 | TBC1D24 | Uncertain significance | 1457138817 | RCV001038888; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546517 | 2546517 | | | 16:g.2546517A>G | - | | |
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu) | 57465 | TBC1D24 | Uncertain significance | 1567411503 | RCV000688677; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546522 | 2546522 | | | NC_000016.9:g.2546522T>C | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.378C>T (p.Pro126=) | 57465 | TBC1D24 | Likely benign | 765624033 | RCV000937980; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546527 | 2546527 | | | 16:g.2546527C>T | - | | |
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn) | 57465 | TBC1D24 | Uncertain significance | 750962753 | RCV000189684|RCV001857660|RCV003165424; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2546528 | 2546528 | | | NC_000016.9:g.2546528G>A | ClinGen:CA319020 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.380A>G (p.Asp127Gly) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002829204; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546529 | 2546529 | | | NC_000016.9:g.2546529A>G | - | | |
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu) | 57465 | TBC1D24 | Uncertain significance | 1376844321 | RCV001204061|RCV002314403; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2546530 | 2546530 | | | NC_000016.9:g.2546530C>A | - | | |
NM_001199107.2(TBC1D24):c.384C>T (p.Ile128=) | 57465 | TBC1D24 | Likely benign | 754479878 | RCV001502431|RCV002368526; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2546533 | 2546533 | | | 2546533 | - | | |
NM_001199107.2(TBC1D24):c.384C>G (p.Ile128Met) | 57465 | TBC1D24 | Uncertain significance | 754479878 | RCV002044975; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546533 | 2546533 | | | 2546533 | - | | |
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp) | 57465 | TBC1D24 | Uncertain significance | 777604231 | RCV001206289; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546542 | 2546542 | | | 16:g.2546542C>G | - | | |
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser) | 57465 | TBC1D24 | Likely pathogenic | 1489466696 | RCV001047523; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546543 | 2546543 | | | 16:g.2546543C>T | - | | |
NM_001199107.2(TBC1D24):c.396C>T (p.Pro132=) | 57465 | TBC1D24 | Likely benign | 371937830 | RCV002316016|RCV002060905; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546545 | 2546545 | | | NC_000016.9:g.2546545C>T | - | | |
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr) | 57465 | TBC1D24 | Uncertain significance | 770787878 | RCV001064365; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546546 | 2546546 | | | 16:g.2546546G>A | - | | |
NM_001199107.2(TBC1D24):c.397G>T (p.Ala133Ser) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002967568; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546546 | 2546546 | | | NC_000016.9:g.2546546G>T | - | | |
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val) | 57465 | TBC1D24 | Uncertain significance | 2065741608 | RCV001243881; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546547 | 2546547 | | | 16:g.2546547C>T | - | | |
NM_001199107.2(TBC1D24):c.400C>T (p.Leu134=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 2065741660 | RCV002118420|RCV003426347; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900 | 16 | 2546549 | 2546549 | | | 2546549 | - | | |
NM_001199107.2(TBC1D24):c.401T>C (p.Leu134Pro) | 57465 | TBC1D24 | Uncertain significance | 2065741689 | RCV001890749; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546550 | 2546550 | | | 2546550 | - | | |
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 1057519630 | RCV000417201|RCV000417203|RCV000802244|RCV001848740|RCV003258807; | N | Human Phenotype Ontology:HP:0001300,MedGen:C0242422|MedGen:CN240682|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3 | 16 | 2546553 | 2546553 | | | NC_000016.9:g.2546553C>T | ClinGen:CA16044430 | CN240682 Autosomal dominant epilepsy; | |
NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=) | 57465 | TBC1D24 | Likely benign | 778663250 | RCV000463847|RCV003424021; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900 | 16 | 2546554 | 2546554 | | | NC_000016.9:g.2546554G>A | ClinGen:CA7843993 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.408C>T (p.Ala136=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 3810796 | RCV000419071|RCV001120422|RCV002061536; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546557 | 2546557 | | | 16:g.2546557C>T | ClinGen:CA7843994 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met) | 57465 | TBC1D24 | Uncertain significance | 200263150 | RCV001056760|RCV003141991|RCV003283923; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 16 | 2546558 | 2546558 | | | 16:g.2546558G>A | - | | |
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu) | 57465 | TBC1D24 | Uncertain significance | 200263150 | RCV001068547; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546558 | 2546558 | | | 16:g.2546558G>T | - | | |
NM_001199107.2(TBC1D24):c.414G>A (p.Val138=) | 57465 | TBC1D24 | Benign/Likely benign | 1015174831 | RCV000651569|RCV001707849; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN517202 | 16 | 2546563 | 2546563 | | | 16:g.2546563G>A | ClinGen:CA276809624 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.415G>A (p.Ala139Thr) | 57465 | TBC1D24 | Uncertain significance | 565087939 | RCV001927271; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546564 | 2546564 | | | 2546564 | - | | |
NM_001199107.2(TBC1D24):c.417C>A (p.Ala139=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002851781; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546566 | 2546566 | | | | - | | |
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val) | 57465 | TBC1D24 | Uncertain significance | 1274130724 | RCV001218681|RCV001799518; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546567 | 2546567 | | | 16:g.2546567C>G | - | | |
NM_001199107.2(TBC1D24):c.418C>T (p.Leu140=) | 57465 | TBC1D24 | Likely benign | -1 | RCV003056252; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546567 | 2546567 | | | | - | | |
NM_001199107.2(TBC1D24):c.420G>A (p.Leu140=) | 57465 | TBC1D24 | Likely benign | 1400165650 | RCV002096348|RCV003408123; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 2546569 | 2546569 | | | 2546569 | - | | |
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys) | 57465 | TBC1D24 | Uncertain significance | 1596968109 | RCV000815016; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546580 | 2546580 | | | 16:g.2546580A>G | - | | |
NM_001199107.2(TBC1D24):c.434G>A (p.Ser145Asn) | 57465 | TBC1D24 | Uncertain significance | 2141871675 | RCV002045003; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546583 | 2546583 | | | 2546583 | - | | |
NM_001199107.2(TBC1D24):c.438C>T (p.Ile146=) | 57465 | TBC1D24 | Likely benign | 776944981 | RCV001394362; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546587 | 2546587 | | | 2546587 | - | | |
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) | 57465 | TBC1D24 | Pathogenic | 267607103 | RCV000000065|RCV001851500; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546588 | 2546588 | | | 16:g.2546588G>C | ClinGen:CA339785,UniProtKB:Q9ULP9#VAR_064365,OMIM:613577.0001 | C0917800 605021 Myoclonic epilepsy, familial infantile; | |
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) | 57465 | TBC1D24 | Uncertain significance | 267607103 | RCV000221106|RCV000690744|RCV001120423|RCV001843495|RCV002503862; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN517202|6 conditions | 16 | 2546588 | 2546588 | | | NC_000016.9:g.2546588G>A | ClinGen:CA7844000 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) | 57465 | TBC1D24 | Benign/Likely benign | 149371169 | RCV000175684|RCV000546672|RCV001120424|RCV001311422|RCV002312950; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2546590 | 2546590 | | | NC_000016.9:g.2546590C>T | ClinGen:CA302805 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) | 57465 | TBC1D24 | Pathogenic | 763626059 | RCV000760799|RCV002533848; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546591 | 2546591 | | | NC_000016.9:g.2546591G>T | - | | |
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 763626059 | RCV000996170|RCV001377220; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546591 | 2546591 | | | 16:g.2546591G>A | - | | |
NM_001199107.2(TBC1D24):c.446C>T (p.Ala149Val) | 57465 | TBC1D24 | Uncertain significance | 2065742678 | RCV001365304; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546595 | 2546595 | | | 2546595 | - | | |
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) | 57465 | TBC1D24 | Likely benign | 755794991 | RCV000517453|RCV000863886|RCV001591173|RCV002316472; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2546596 | 2546596 | | | 16:g.2546596C>T | ClinGen:CA7844005 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.455T>C (p.Phe152Ser) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002303864; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546604 | 2546604 | | | 2546604 | - | | |
NM_001199107.2(TBC1D24):c.456C>T (p.Phe152=) | 57465 | TBC1D24 | Likely benign | 2065742840 | RCV001489551; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546605 | 2546605 | | | 2546605 | - | | |
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 376712059 | RCV000189685|RCV000558935|RCV000614904|RCV000850506|RCV000995887|RCV002311285|RCV002468572; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C5680250, Orphanet:96210|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500; MO | 16 | 2546606 | 2546606 | | | NC_000016.9:g.2546606G>A | ClinGen:CA319022 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala) | 57465 | TBC1D24 | Uncertain significance | 1424074905 | RCV000811444; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546607 | 2546607 | | | 16:g.2546607A>C | - | | |
NM_001199107.2(TBC1D24):c.458A>G (p.Glu153Gly) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002966161; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546607 | 2546607 | | | NC_000016.9:g.2546607A>G | - | | |
NM_001199107.2(TBC1D24):c.459G>C (p.Glu153Asp) | 57465 | TBC1D24 | Uncertain significance | 1169312508 | RCV001347846; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546608 | 2546608 | | | 2546608 | - | | |
NM_001199107.2(TBC1D24):c.461A>G (p.Lys154Arg) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002298238; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546610 | 2546610 | | | 2546610 | - | | |
NM_001199107.2(TBC1D24):c.465C>T (p.Ala155=) | 57465 | TBC1D24 | Likely benign | 1596968205 | RCV001497638; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546614 | 2546614 | | | 16:g.2546614C>T | - | | |
NM_001199107.2(TBC1D24):c.470G>A (p.Arg157His) | 57465 | TBC1D24 | Uncertain significance | 1301489148 | RCV002318297|RCV002533057; | N | MeSH:D030342,MedGen:C0950123|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546619 | 2546619 | | | NC_000016.9:g.2546619G>A | - | | |
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) | 57465 | TBC1D24 | Pathogenic/Likely pathogenic | 796053403 | RCV000189694|RCV000624622|RCV001217724; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546623 | 2546623 | | | 16:g.2546623_2546623del | ClinGen:CA319047 | C0950123 Inborn genetic diseases; | |
NM_001199107.2(TBC1D24):c.477G>C (p.Leu159=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | -1 | RCV002612616|RCV003232830; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202 | 16 | 2546626 | 2546626 | | | | - | | |
NM_001199107.2(TBC1D24):c.478G>T (p.Ala160Ser) | 57465 | TBC1D24 | Uncertain significance | 1277641753 | RCV001327541; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546627 | 2546627 | | | 2546627 | - | | |
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) | 57465 | TBC1D24 | Pathogenic/Likely pathogenic | 745800110 | RCV000579339|RCV001388446|RCV003235298; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635| | 16 | 2546632 | 2546632 | | | 16:g.2546632C>A | ClinGen:CA7844009 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) | 57465 | TBC1D24 | Uncertain significance | 772054145 | RCV000602701|RCV000796640|RCV000993242|RCV002529356; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 16 | 2546634 | 2546634 | | | NC_000016.9:g.2546634A>G | ClinGen:CA7844010 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.486T>A (p.Asn162Lys) | 57465 | TBC1D24 | Uncertain significance | 886051845 | RCV000405478|RCV001850687; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546635 | 2546635 | | | NC_000016.9:g.2546635T>A | ClinGen:CA10647225 | C0917800 605021 Myoclonic epilepsy, familial infantile; | |
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 369172908 | RCV000429223|RCV000861086|RCV001120425|RCV003422396; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900 | 16 | 2546641 | 2546641 | | | 16:g.2546641C>G | ClinGen:CA7844012 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.492C>T (p.Pro164=) | 57465 | TBC1D24 | Likely benign | 369172908 | RCV001698060|RCV002066878; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546641 | 2546641 | | | 16:g.2546641C>T | ClinGen:CA7844011 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 200926225 | RCV000189669|RCV000466794|RCV000660402|RCV001535427|RCV002314766; | N | MedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596|MedGen:C3661900|MeSH:D030342,M | 16 | 2546642 | 2546642 | | | NC_000016.9:g.2546642G>A | ClinGen:CA318989 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.495C>G (p.Gly165=) | 57465 | TBC1D24 | Likely benign | 776661155 | RCV001452739; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546644 | 2546644 | | | 2546644 | - | | |
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro) | 57465 | TBC1D24 | Uncertain significance | 770847294 | RCV001321656; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546652 | 2546652 | | | 2546652 | - | | |
NM_001199107.2(TBC1D24):c.507C>T (p.Ile169=) | 57465 | TBC1D24 | Likely benign | 529104933 | RCV000863579; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546656 | 2546656 | | | 16:g.2546656C>T | - | | |
NM_001199107.2(TBC1D24):c.508G>A (p.Asp170Asn) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003016915; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546657 | 2546657 | | | NC_000016.9:g.2546657G>A | - | | |
NM_001199107.2(TBC1D24):c.519C>T (p.Phe173=) | 57465 | TBC1D24 | Likely benign | 763534843 | RCV000651577; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546668 | 2546668 | | | 16:g.2546668C>T | ClinGen:CA7844017 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp) | 57465 | TBC1D24 | Uncertain significance | 2065744128 | RCV001059304; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546673 | 2546673 | | | 16:g.2546673C>A | - | | |
NM_001199107.2(TBC1D24):c.524C>G (p.Ala175Gly) | 57465 | TBC1D24 | Uncertain significance | 2065744128 | RCV001985469; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546673 | 2546673 | | | 2546673 | - | | |
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly) | 57465 | TBC1D24 | Uncertain significance | 767035291 | RCV001346897|RCV002350641; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2546679 | 2546679 | | | 2546679 | - | | |
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 483352866 | RCV001262528|RCV001880044; | N | MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546682 | 2546682 | | | 16:g.2546682C>G | - | | |
NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=) | 57465 | TBC1D24 | Likely benign | 144714321 | RCV000868790|RCV001545096; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900 | 16 | 2546683 | 2546683 | | | 16:g.2546683G>A | - | | |
NM_001199107.2(TBC1D24):c.545C>T (p.Thr182Met) | 57465 | TBC1D24 | Uncertain significance | 763670146 | RCV002010265|RCV002243504; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900 | 16 | 2546694 | 2546694 | | | 2546694 | - | | |
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=) | 57465 | TBC1D24 | Likely benign | 182825122 | RCV000457558|RCV001718880|RCV002318396; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2546695 | 2546695 | | | 16:g.2546695G>A | ClinGen:CA7844022 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del) | 57465 | TBC1D24 | Uncertain significance | 1215641557 | RCV000518349|RCV001374043; | N | MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546701 | 2546706 | | | 16:g.2546701_2546706del | ClinGen:CA620709064 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.555C>T (p.Asp185=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002835258; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546704 | 2546704 | | | | - | | |
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val) | 57465 | TBC1D24 | Uncertain significance | 1555501245 | RCV000530446; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546705 | 2546705 | | | NC_000016.9:g.2546705C>G | ClinGen:CA394376544 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.578C>T (p.Ala193Val) | 57465 | TBC1D24 | Uncertain significance | 750266156 | RCV000189687|RCV002514070; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546727 | 2546727 | | | 16:g.2546727C>T | ClinGen:CA319027 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg) | 57465 | TBC1D24 | Uncertain significance | 758299397 | RCV000651572; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546736 | 2546736 | | | 16:g.2546736A>G | ClinGen:CA7844025 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.592A>T (p.Met198Leu) | 57465 | TBC1D24 | Uncertain significance | 779920318 | RCV001301785; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546741 | 2546741 | | | 2546741 | - | | |
NM_001199107.2(TBC1D24):c.600C>T (p.Ala200=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002586101; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546749 | 2546749 | | | | - | | |
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met) | 57465 | TBC1D24 | Uncertain significance | 537705878 | RCV001205328; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546750 | 2546750 | | | 16:g.2546750G>A | - | | |
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 61731478 | RCV000703963|RCV000728728; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202 | 16 | 2546755 | 2546755 | | | NC_000016.9:g.2546755G>A | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His) | 57465 | TBC1D24 | Uncertain significance | 876658012 | RCV000221376|RCV001853488; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546770 | 2546770 | | | NC_000016.9:g.2546770G>C | ClinGen:CA10577006 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile) | 57465 | TBC1D24 | Uncertain significance | 1355375251 | RCV000693876|RCV001555810; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202 | 16 | 2546771 | 2546771 | | | NC_000016.9:g.2546771G>A | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.628G>A (p.Ala210Thr) | 57465 | TBC1D24 | Uncertain significance | 2141872095 | RCV001979928; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546777 | 2546777 | | | 2546777 | - | | |
NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val) | 57465 | TBC1D24 | Uncertain significance | 771442254 | RCV001307263; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546778 | 2546778 | | | 2546778 | - | | |
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=) | 57465 | TBC1D24 | Benign/Likely benign | 776459372 | RCV000189670|RCV000542896; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546779 | 2546779 | | | NC_000016.9:g.2546779G>A | ClinGen:CA318991 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.631G>A (p.Asp211Asn) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002891067; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546780 | 2546780 | | | NC_000016.9:g.2546780G>A | - | | |
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly) | 57465 | TBC1D24 | Uncertain significance | 1596968508 | RCV000822179; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546781 | 2546781 | | | 16:g.2546781A>G | - | | |
NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter) | 57465 | TBC1D24 | Pathogenic | 2141872114 | RCV002002392; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546785 | 2546785 | | | 2546785 | - | | |
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) | 57465 | TBC1D24 | Pathogenic | 2141872119 | RCV001384532|RCV002265993; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582; MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105, Orphanet:16372 | 16 | 2546786 | 2546937 | | | 2546785 | - | | |
NM_001199107.2(TBC1D24):c.639G>C (p.Gln213His) | 57465 | TBC1D24 | Uncertain significance | 1223160118 | RCV001575289|RCV002569078; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546788 | 2546788 | | | 2546788 | - | | |
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys) | 57465 | TBC1D24 | Uncertain significance | 760121083 | RCV000559852|RCV002461329; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN517202 | 16 | 2546789 | 2546789 | | | 16:g.2546789C>T | ClinGen:CA7844036 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=) | 57465 | TBC1D24 | Likely benign | 571126287 | RCV000860860|RCV001483215; | N | MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546797 | 2546797 | | | 16:g.2546797G>C | ClinGen:CA16607235 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.650T>A (p.Phe217Tyr) | 57465 | TBC1D24 | Uncertain significance | 1441237124 | RCV002042131; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546799 | 2546799 | | | 2546799 | - | | |
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=) | 57465 | TBC1D24 | Likely benign | 750100459 | RCV000516622|RCV001484142; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546800 | 2546800 | | | 16:g.2546800T>C | ClinGen:CA7844040 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys) | 57465 | TBC1D24 | Uncertain significance | 1159293544 | RCV001038764|RCV002466610; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:CN517202 | 16 | 2546804 | 2546804 | | | 16:g.2546804G>A | - | | |
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) | 57465 | TBC1D24 | Benign | 587781187 | RCV000128366|RCV000549549|RCV002362771; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2546806 | 2546806 | | | NC_000016.9:g.2546806G>A | ClinGen:CA293863 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro) | 57465 | TBC1D24 | Uncertain significance | 2065745991 | RCV001063830; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546808 | 2546808 | | | 16:g.2546808T>C | - | | |
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) | 57465 | TBC1D24 | Benign/Likely benign | 148670169 | RCV000189671|RCV000234268|RCV001082845|RCV001115524|RCV002362992; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123 | 16 | 2546812 | 2546812 | | | 16:g.2546812C>T | ClinGen:CA318993 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.668_669delinsAA (p.Cys223Ter) | 57465 | TBC1D24 | Pathogenic | -1 | RCV002730425; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546817 | 2546818 | | | NC_000016.9:g.2546817_2546818delinsAA | - | | |
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr) | 57465 | TBC1D24 | Uncertain significance | 796053401 | RCV000189689|RCV001852515|RCV002514071; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2546825 | 2546825 | | | NC_000016.9:g.2546825G>A | ClinGen:CA319032 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 748302886 | RCV000492824|RCV000651568|RCV001196423|RCV002367670; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2546828 | 2546828 | | | 16:g.2546828C>T | ClinGen:CA7844044 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) | 57465 | TBC1D24 | Pathogenic/Likely pathogenic | 756181906 | RCV000189690|RCV000623081|RCV001041353; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546829 | 2546829 | | | 16:g.2546829G>T | ClinGen:CA319035 | C0950123 Inborn genetic diseases; | |
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) | 57465 | TBC1D24 | Likely pathogenic | 756181906 | RCV001233778|RCV002291735; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900 | 16 | 2546829 | 2546829 | | | 16:g.2546829G>A | - | | |
NM_001199107.2(TBC1D24):c.683T>A (p.Val228Asp) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003075296; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546832 | 2546832 | | | NC_000016.9:g.2546832T>A | - | | |
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) | 57465 | TBC1D24 | Pathogenic | 397514713 | RCV000050233|RCV001219030|RCV001557354; | N | MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 2546835 | 2546835 | | | 16:g.2546835T>C | ClinGen:CA344789,UniProtKB:Q9ULP9#VAR_070102,OMIM:613577.0005 | C3809173 615338 Early infantile epileptic encephalopathy 16; | |
NM_001199107.2(TBC1D24):c.690C>T (p.Asp230=) | 57465 | TBC1D24 | Likely benign | 749531792 | RCV001441296; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546839 | 2546839 | | | 16:g.2546839C>T | - | | |
NM_001199107.2(TBC1D24):c.691G>A (p.Val231Ile) | 57465 | TBC1D24 | Uncertain significance | 370614433 | RCV001954749; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546840 | 2546840 | | | 2546840 | - | | |
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 188739853 | RCV000189672|RCV000315247|RCV000762179|RCV001083954|RCV002362993; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2546851 | 2546851 | | | 16:g.2546851G>A | ClinGen:CA318996 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.702G>C (p.Val234=) | 57465 | TBC1D24 | Likely benign | 188739853 | RCV000868631|RCV001532315; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900 | 16 | 2546851 | 2546851 | | | 16:g.2546851G>C | ClinGen:CA7844049 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.706G>A (p.Gly236Ser) | 57465 | TBC1D24 | Likely pathogenic | 1183009408 | RCV001969475; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546855 | 2546855 | | | 2546855 | - | | |
NM_001199107.2(TBC1D24):c.715del (p.Val239fs) | 57465 | TBC1D24 | Pathogenic | 2141872348 | RCV001384860; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546863 | 2546863 | | | 2546862 | - | | |
NM_001199107.2(TBC1D24):c.717G>A (p.Val239=) | 57465 | TBC1D24 | Likely benign | -1 | RCV003093524; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546866 | 2546866 | | | | - | | |
NM_001199107.2(TBC1D24):c.721T>A (p.Tyr241Asn) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003032397; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546870 | 2546870 | | | NC_000016.9:g.2546870T>A | - | | |
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His) | 57465 | TBC1D24 | Pathogenic | 199744635 | RCV000823886; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546874 | 2546874 | | | 16:g.2546874G>A | - | | |
NM_001199107.2(TBC1D24):c.726C>T (p.Arg242=) | 57465 | TBC1D24 | Likely benign | 772786813 | RCV000557387; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546875 | 2546875 | | | NC_000016.9:g.2546875C>T | ClinGen:CA7844053 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met) | 57465 | TBC1D24 | Uncertain significance | 762660491 | RCV000537969|RCV001553366|RCV002384239; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 16 | 2546876 | 2546876 | | | NC_000016.9:g.2546876G>A | ClinGen:CA7844054 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu) | 57465 | TBC1D24 | Uncertain significance | 375873110 | RCV000696311; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546880 | 2546880 | | | NC_000016.9:g.2546880C>A | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.732G>A (p.Ala244=) | 57465 | TBC1D24 | Likely benign | 554758752 | RCV001397914|RCV001587395|RCV002384572; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2546881 | 2546881 | | | 2546881 | - | | |
NM_001199107.2(TBC1D24):c.746A>T (p.Lys249Met) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002634290; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546895 | 2546895 | | | NC_000016.9:g.2546895A>T | - | | |
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) | 57465 | TBC1D24 | Pathogenic | 766769998 | RCV001951260; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546900 | 2546900 | | | 2546899 | - | | |
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=) | 57465 | TBC1D24 | Likely benign | 190306450 | RCV000816578|RCV000828676|RCV002390662; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2546908 | 2546908 | | | 16:g.2546908G>A | - | | |
NM_001199107.2(TBC1D24):c.759G>C (p.Lys253Asn) | 57465 | TBC1D24 | Uncertain significance | 190306450 | RCV002011861; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546908 | 2546908 | | | 2546908 | - | | |
NM_001199107.2(TBC1D24):c.768C>T (p.Ala256=) | 57465 | TBC1D24 | Likely benign | 778001053 | RCV002095889; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546917 | 2546917 | | | 2546917 | - | | |
NM_001199107.2(TBC1D24):c.769G>T (p.Gly257Trp) | 57465 | TBC1D24 | Uncertain significance | 1440897868 | RCV001307664; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546918 | 2546918 | | | 2546918 | - | | |
NM_001199107.2(TBC1D24):c.769G>A (p.Gly257Arg) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003067083; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546918 | 2546918 | | | NC_000016.9:g.2546918G>A | - | | |
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln) | 57465 | TBC1D24 | Uncertain significance | 779398267 | RCV000503445|RCV001227340; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546925 | 2546925 | | | NC_000016.9:g.2546925C>A | ClinGen:CA394377273 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.777G>A (p.Pro259=) | 57465 | TBC1D24 | Likely benign | -1 | RCV003069931; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546926 | 2546926 | | | | - | | |
NM_001199107.2(TBC1D24):c.777G>T (p.Pro259=) | 57465 | TBC1D24 | Likely benign | -1 | RCV003069601; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546926 | 2546926 | | | | - | | |
NM_001199107.2(TBC1D24):c.781G>C (p.Glu261Gln) | 57465 | TBC1D24 | Uncertain significance | 2065747894 | RCV001297085; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546930 | 2546930 | | | 2546930 | - | | |
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) | 57465 | TBC1D24 | Benign/Likely benign | 201060500 | RCV000175685|RCV000427762|RCV001086285|RCV002408765; | N | MedGen:CN169374|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2546934 | 2546934 | | | 16:g.2546934C>T | ClinGen:CA201586 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.786G>A (p.Ser262=) | 57465 | TBC1D24 | Likely benign | 371064617 | RCV001412133; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546935 | 2546935 | | | 2546935 | - | | |
NM_001199107.2(TBC1D24):c.787G>C (p.Asp263His) | 57465 | TBC1D24 | Uncertain significance | 2065747955 | RCV001349924; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546936 | 2546936 | | | 2546936 | - | | |
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=) | 57465 | TBC1D24 | Likely benign | 769290045 | RCV000614562|RCV000981353; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546941 | 2546941 | | | NC_000016.9:g.2546941C>T | ClinGen:CA7844070 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) | 57465 | TBC1D24 | Uncertain significance | 772768393 | RCV000351381|RCV000431132|RCV000822115; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546942 | 2546942 | | | NC_000016.9:g.2546942G>A | ClinGen:CA7844071 | C0917800 605021 Myoclonic epilepsy, familial infantile; | |
NM_001199107.2(TBC1D24):c.793G>T (p.Val265Leu) | 57465 | TBC1D24 | Uncertain significance | 772768393 | RCV001934030; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546942 | 2546942 | | | 2546942 | - | | |
NM_001199107.2(TBC1D24):c.800A>G (p.Gln267Arg) | 57465 | TBC1D24 | Uncertain significance | 1004946712 | RCV002030394; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546949 | 2546949 | | | 2546949 | - | | |
NM_001199107.2(TBC1D24):c.805A>G (p.Ile269Val) | 57465 | TBC1D24 | Uncertain significance | 1417808543 | RCV001303365; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546954 | 2546954 | | | 2546954 | - | | |
NM_001199107.2(TBC1D24):c.806del (p.Ile269fs) | 57465 | TBC1D24 | Pathogenic | 2141872499 | RCV001959014; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546955 | 2546955 | | | 2546954 | - | | |
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met) | 57465 | TBC1D24 | Uncertain significance | 762576413 | RCV000651567; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546956 | 2546956 | | | 16:g.2546956C>G | ClinGen:CA394377415 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) | 57465 | TBC1D24 | Uncertain significance | 375860324 | RCV000550470|RCV001755896|RCV002491097; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN517202|6 conditions | 16 | 2546957 | 2546957 | | | NC_000016.9:g.2546957C>T | ClinGen:CA7844073 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 545689324 | RCV000499717|RCV001066985; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546958 | 2546958 | | | NC_000016.9:g.2546958G>A | ClinGen:CA7844074 | C0917800 605021 Myoclonic epilepsy, familial infantile; | |
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | -1 | RCV002421272|RCV003099843; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546960 | 2546960 | | | 2546960 | - | | |
NM_001199107.2(TBC1D24):c.812C>T (p.Thr271Met) | 57465 | TBC1D24 | Uncertain significance | 1328684138 | RCV001914054; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2546961 | 2546961 | | | 2546961 | - | | |
NM_001199107.2(TBC1D24):c.813G>A (p.Thr271=) | 57465 | TBC1D24 | Likely benign | 527719763 | RCV001498328|RCV001655574|RCV002316166; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2546962 | 2546962 | | | NC_000016.9:g.2546962G>A | - | | |
NM_001199107.2(TBC1D24):c.816C>T (p.Phe272=) | 57465 | TBC1D24 | Likely benign | 796053402 | RCV001440198|RCV001575955; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900 | 16 | 2546965 | 2546965 | | | 2546965 | - | | |
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile) | 57465 | TBC1D24 | Uncertain significance | 752610561 | RCV000526417|RCV001815406; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 2546966 | 2546966 | | | NC_000016.9:g.2546966G>A | ClinGen:CA7844077 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly) | 57465 | TBC1D24 | Uncertain significance | 760591932 | RCV000523657|RCV001851481; | N | MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546969 | 2546969 | | | 16:g.2546969A>G | ClinGen:CA7844078 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.820_822del (p.Arg274del) | 57465 | TBC1D24 | Uncertain significance | 2141872549 | RCV001369409; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546969 | 2546971 | | | 2546968 | - | | |
NM_001199107.2(TBC1D24):c.824A>G (p.Asp275Gly) | 57465 | TBC1D24 | Uncertain significance | 2141872557 | RCV001951754; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2546973 | 2546973 | | | 2546973 | - | | |
NM_001199107.2(TBC1D24):c.828C>T (p.Ile276=) | 57465 | TBC1D24 | Likely benign | 764252146 | RCV001465688|RCV001550639; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900 | 16 | 2546977 | 2546977 | | | 2546977 | - | | |
NM_001199107.2(TBC1D24):c.828C>G (p.Ile276Met) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002695759; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546977 | 2546977 | | | NC_000016.9:g.2546977C>G | - | | |
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser) | 57465 | TBC1D24 | Uncertain significance | 754019727 | RCV000478093|RCV001294761; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546978 | 2546978 | | | 16:g.2546978G>T | ClinGen:CA16620169 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr) | 57465 | TBC1D24 | Uncertain significance | 754019727 | RCV000538988|RCV002316579; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2546978 | 2546978 | | | NC_000016.9:g.2546978G>A | ClinGen:CA7844080 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val) | 57465 | TBC1D24 | Uncertain significance | 909267678 | RCV001304295; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2546979 | 2546979 | | | 2546979 | - | | |
NM_001199107.2(TBC1D24):c.831G>A (p.Ala277=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002604469; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546980 | 2546980 | | | | - | | |
NM_001199107.2(TBC1D24):c.838G>A (p.Val280Met) | 57465 | TBC1D24 | Uncertain significance | 867618745 | RCV002037209|RCV002545288; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2546987 | 2546987 | | | 2546987 | - | | |
NM_001199107.2(TBC1D24):c.841T>C (p.Ser281Pro) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002609712; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2546990 | 2546990 | | | NC_000016.9:g.2546990T>C | - | | |
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 747538224 | RCV000189692|RCV000254691|RCV000469036|RCV000623272|RCV000678853|RCV001330478; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C0950123||MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231,Or | 16 | 2546994 | 2546994 | | | 16:g.2546994C>G | ClinGen:CA319041 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.855G>T (p.Leu285=) | 57465 | TBC1D24 | Likely benign | 769201984 | RCV001439588; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547004 | 2547004 | | | 2547004 | - | | |
NM_001199107.2(TBC1D24):c.855G>C (p.Leu285=) | 57465 | TBC1D24 | Likely benign | 769201984 | RCV002206664; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2547004 | 2547004 | | | 2547004 | - | | |
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val) | 57465 | TBC1D24 | Uncertain significance | 775099094 | RCV001048200; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547005 | 2547005 | | | 16:g.2547005C>G | - | | |
NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=) | 57465 | TBC1D24 | Likely benign | 777237669 | RCV000870697|RCV001532316|RCV002442853; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2547013 | 2547013 | | | 16:g.2547013A>G | - | | |
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) | 57465 | TBC1D24 | Likely pathogenic | 748759187 | RCV000501813|RCV001824142|RCV001857175; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:6160 | 16 | 2547015 | 2547015 | | | NC_000016.9:g.2547015C>T | ClinGen:CA394377660 | C0917800 605021 Myoclonic epilepsy, familial infantile; | |
NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=) | 57465 | TBC1D24 | Likely benign | 1328290571 | RCV000605372|RCV002062141; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547016 | 2547016 | | | 16:g.2547016G>A | ClinGen:CA493367240 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.870C>T (p.Phe290=) | 57465 | TBC1D24 | Likely benign | 770453630 | RCV001396819; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2547019 | 2547019 | | | 2547019 | - | | |
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) | 57465 | TBC1D24 | Uncertain significance | 375307187 | RCV000189693|RCV000695988|RCV000765280|RCV001252363|RCV001818460|RCV002314768; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500; MONDO:MONDO:0011506,MedGen:C09178 | 16 | 2547020 | 2547020 | | | NC_000016.9:g.2547020G>A | ClinGen:CA319044 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) | 57465 | TBC1D24 | Uncertain significance | 199700840 | RCV000189706|RCV000551334|RCV000826046|RCV002317660|RCV002478665; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|6 conditions | 16 | 2547027 | 2547027 | | | NC_000016.9:g.2547027G>A | ClinGen:CA319076 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) | 57465 | TBC1D24 | Benign/Likely benign | 72768728 | RCV000128367|RCV000514759|RCV001115525|RCV001084415|RCV002312951; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2547034 | 2547034 | | | NC_000016.9:g.2547034C>G | ClinGen:CA293866,UniProtKB:Q9ULP9#VAR_070890 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys) | 57465 | TBC1D24 | Uncertain significance | 1351414664 | RCV002012696|RCV003448445; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MONDO:MONDO:0013826,MedGen:C2829265,OMIM:614617, Orphanet:90636 | 16 | 2547038 | 2547038 | | | 2547038 | - | | |
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His) | 57465 | TBC1D24 | Uncertain significance | 760666914 | RCV000520838|RCV001064992; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547039 | 2547039 | | | 16:g.2547039G>A | ClinGen:CA276809641 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.916G>A (p.Ala306Thr) | 57465 | TBC1D24 | Uncertain significance | 2141872755 | RCV001921979; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547065 | 2547065 | | | 2547065 | - | | |
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His) | 57465 | TBC1D24 | Pathogenic | 1555501320 | RCV000578091|RCV002526008; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547068 | 2547068 | | | 16:g.2547068A>C | ClinGen:CA394377931 | C3892048 616044 Deafness, autosomal dominant 65; | |
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 761934676 | RCV000707641|RCV001195523|RCV001270076|RCV003392546; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN169374|Human Phenotype Ontology:HP:0001336,Human Phenotype Ontology:HP:0002535,Human Phenotype Ontology:HP:0007087,Me | 16 | 2547069 | 2547069 | | | 16:g.2547069A>G | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val) | 57465 | TBC1D24 | Uncertain significance | 1160994039 | RCV001203105|RCV001773452; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 2547078 | 2547078 | | | 16:g.2547078C>T | - | | |
NM_001199107.2(TBC1D24):c.930C>T (p.Ala310=) | 57465 | TBC1D24 | Likely benign | -1 | RCV003082452; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2547079 | 2547079 | | | | - | | |
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 766745103 | RCV000189673|RCV000397672|RCV000651581|RCV001815242|RCV002317659; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2547100 | 2547100 | | | NC_000016.9:g.2547100C>T | ClinGen:CA318998 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.952G>A (p.Val318Met) | 57465 | TBC1D24 | Uncertain significance | 370233833 | RCV001358914; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547101 | 2547101 | | | 2547101 | - | | |
NM_001199107.2(TBC1D24):c.955A>C (p.Lys319Gln) | 57465 | TBC1D24 | Uncertain significance | 2141872821 | RCV001969328; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547104 | 2547104 | | | 2547104 | - | | |
NM_001199107.2(TBC1D24):c.963G>T (p.Lys321Asn) | 57465 | TBC1D24 | Uncertain significance | 2141872825 | RCV001996006; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2547112 | 2547112 | | | 2547112 | - | | |
NM_001199107.2(TBC1D24):c.965G>A (p.Ser322Asn) | 57465 | TBC1D24 | Uncertain significance | 1567412410 | RCV001862032|RCV002314531; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2547114 | 2547114 | | | NC_000016.9:g.2547114G>A | - | | |
NM_001199107.2(TBC1D24):c.965+4G>C | 57465 | TBC1D24 | Uncertain significance | 781629915 | RCV002039632; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547118 | 2547118 | | | 2547118 | - | | |
NM_001199107.2(TBC1D24):c.965+7C>T | 57465 | TBC1D24 | Likely benign | 1244113744 | RCV001492636; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547121 | 2547121 | | | 2547121 | - | | |
NM_001199107.2(TBC1D24):c.965+8G>A | 57465 | TBC1D24 | Likely benign | 372247100 | RCV000417633|RCV001442102; | N | MedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2547122 | 2547122 | | | 16:g.2547122G>A | ClinGen:CA7844100 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.965+8G>T | 57465 | TBC1D24 | Likely benign | 372247100 | RCV002214887; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547122 | 2547122 | | | 2547122 | - | | |
NM_001199107.2(TBC1D24):c.965+10C>T | 57465 | TBC1D24 | Likely benign | 756687194 | RCV000651574; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2547124 | 2547124 | | | NC_000016.9:g.2547124C>T | ClinGen:CA7844101 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.965+11G>A | 57465 | TBC1D24 | Benign/Likely benign | 568663296 | RCV000189674|RCV001115526|RCV002054237; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547125 | 2547125 | | | NC_000016.9:g.2547125G>A | ClinGen:CA319001 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.965+11G>C | 57465 | TBC1D24 | Likely benign | 568663296 | RCV002088934; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547125 | 2547125 | | | 2547125 | - | | |
NM_001199107.2(TBC1D24):c.965+13C>T | 57465 | TBC1D24 | Uncertain significance | 531521557 | RCV001873024; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547127 | 2547127 | | | 2547127 | - | | |
NM_001199107.2(TBC1D24):c.965+16C>G | 57465 | TBC1D24 | Likely benign | 2065750449 | RCV002194984; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2547130 | 2547130 | | | 2547130 | - | | |
NM_001199107.2(TBC1D24):c.965+16C>T | 57465 | TBC1D24 | Likely benign | -1 | RCV002899089; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547130 | 2547130 | | | NC_000016.9:g.2547130C>T | - | | |
NM_001199107.2(TBC1D24):c.965+17C>T | 57465 | TBC1D24 | Likely benign | -1 | RCV002650139; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2547131 | 2547131 | | | NC_000016.9:g.2547131C>T | - | | |
NM_001199107.2(TBC1D24):c.966-12_966-10del | 57465 | TBC1D24 | Likely benign | 2065755511 | RCV002097540; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547697 | 2547699 | | | 2547696 | - | | |
NM_001199107.2(TBC1D24):c.966-11C>T | 57465 | TBC1D24 | Likely benign | -1 | RCV003074742; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2547700 | 2547700 | | | NC_000016.9:g.2547700C>T | - | | |
NM_001199107.2(TBC1D24):c.966-10T>A | 57465 | TBC1D24 | Uncertain significance | 1217245218 | RCV001927880; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547701 | 2547701 | | | 2547701 | - | | |
NM_001199107.2(TBC1D24):c.969G>A (p.Val323=) | 57465 | TBC1D24 | Likely benign | 1054785696 | RCV000863695|RCV001433534; | N | MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547714 | 2547714 | | | 16:g.2547714G>A | - | | |
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu) | 57465 | TBC1D24 | Uncertain significance | 1567412736 | RCV001214066; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547716 | 2547716 | | | 16:g.2547716C>T | - | | |
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 886043654 | RCV000297556|RCV002059222|RCV002374473; | N | MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2547717 | 2547717 | | | 16:g.2547717A>C | ClinGen:CA10605788 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.977C>A (p.Ser326Tyr) | 57465 | TBC1D24 | Uncertain significance | 2141873571 | RCV001877900; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547722 | 2547722 | | | 2547722 | - | | |
NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter) | 57465 | TBC1D24 | Pathogenic | 2065755770 | RCV001890156; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547724 | 2547724 | | | 2547724 | - | | |
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) | 57465 | TBC1D24 | Uncertain significance | 796053404 | RCV000189697|RCV001214067; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547728 | 2547728 | | | NC_000016.9:g.2547728G>T | ClinGen:CA319054 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.983+1G>C | 57465 | TBC1D24 | Likely pathogenic | 2141873582 | RCV002045655; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2547729 | 2547729 | | | 2547729 | - | | |
NM_001199107.2(TBC1D24):c.983+2T>C | 57465 | TBC1D24 | Likely pathogenic | 1596969717 | RCV000814737; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2547730 | 2547730 | | | 16:g.2547730T>C | - | | |
NM_001199107.2(TBC1D24):c.983+7C>T | 57465 | TBC1D24 | Benign/Likely benign | 778459711 | RCV000419706|RCV000527476; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2547735 | 2547735 | | | 16:g.2547735C>T | ClinGen:CA7844118 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.983+15_983+16del | 57465 | TBC1D24 | Likely benign | 1064794673 | RCV000480620|RCV002056781; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2547742 | 2547743 | | | 16:g.2547742_2547743del | ClinGen:CA16620170 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.983+15G>A | 57465 | TBC1D24 | Likely benign | 1172969040 | RCV002123401; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2547743 | 2547743 | | | 2547743 | - | | |
NM_001199107.2(TBC1D24):c.983+16T>A | 57465 | TBC1D24 | Likely benign | 1355546058 | RCV002094836; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2547744 | 2547744 | | | 2547744 | - | | |
NM_001199107.2(TBC1D24):c.983+19C>G | 57465 | TBC1D24 | Likely benign | 2141873600 | RCV002113625; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2547747 | 2547747 | | | 2547747 | - | | |
NM_001199107.2(TBC1D24):c.984-12C>T | 57465 | TBC1D24 | Likely benign | 762896980 | RCV002071132; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2548227 | 2548227 | | | 2548227 | - | | |
NM_001199107.2(TBC1D24):c.984-11G>A | 57465 | TBC1D24 | Likely benign | 1297656612 | RCV002183346; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2548228 | 2548228 | | | 2548228 | - | | |
NM_001199107.2(TBC1D24):c.984-7C>T | 57465 | TBC1D24 | Likely benign | 1432999070 | RCV001488828; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2548232 | 2548232 | | | 2548232 | - | | |
NM_001199107.2(TBC1D24):c.984-5C>T | 57465 | TBC1D24 | Likely benign | 535021783 | RCV001464940; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548234 | 2548234 | | | 2548234 | - | | |
NM_001199107.2(TBC1D24):c.984G>A (p.Arg328=) | 57465 | TBC1D24 | Uncertain significance | 774492330 | RCV002029027; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2548239 | 2548239 | | | 2548239 | - | | |
NM_001199107.2(TBC1D24):c.991G>A (p.Val331Ile) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002647974; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548246 | 2548246 | | | NC_000016.9:g.2548246G>A | - | | |
NM_001199107.2(TBC1D24):c.994C>T (p.His332Tyr) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002741237; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2548249 | 2548249 | | | NC_000016.9:g.2548249C>T | - | | |
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val) | 57465 | TBC1D24 | Uncertain significance | 753105655 | RCV001246621|RCV002564108|RCV003156328; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 16 | 2548252 | 2548252 | | | 16:g.2548252T>G | - | | |
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) | 57465 | TBC1D24 | Benign/Likely benign | 184389316 | RCV000128368|RCV000311696|RCV000463587|RCV001528698|RCV002312952; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2548257 | 2548257 | | | NC_000016.9:g.2548257C>T | ClinGen:CA293869 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1002C>G (p.Ala334=) | 57465 | TBC1D24 | Likely benign | 184389316 | RCV002203706; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2548257 | 2548257 | | | 2548257 | - | | |
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile) | 57465 | TBC1D24 | Uncertain significance | 889668249 | RCV001344102; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548258 | 2548258 | | | 2548258 | - | | |
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) | 57465 | TBC1D24 | Pathogenic | 398122967 | RCV000076916|RCV000189708|RCV000470479|RCV001197830|RCV002426639|RCV003430660; | N | MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0014470,MedGen:C38920 | 16 | 2548263 | 2548263 | | | 16:g.2548263_2548263del | ClinGen:CA319081,OMIM:613577.0010 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1008T>C (p.His336=) | 57465 | TBC1D24 | Likely benign | 961839071 | RCV001427356; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2548263 | 2548263 | | | 2548263 | - | | |
NM_001199107.2(TBC1D24):c.1010C>T (p.Ala337Val) | 57465 | TBC1D24 | Uncertain significance | 1192131861 | RCV001906006; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548265 | 2548265 | | | 2548265 | - | | |
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 574768683 | RCV000118581|RCV000606977|RCV000811630|RCV003343646; | N | MedGen:C3661900|MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2548270 | 2548270 | | | NC_000016.9:g.2548270A>G | ClinGen:CA231544 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.1016A>C (p.Asn339Thr) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002303724; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2548271 | 2548271 | | | 2548271 | - | | |
NM_001199107.2(TBC1D24):c.1020C>T (p.Phe340=) | 57465 | TBC1D24 | Likely benign | 200711801 | RCV001438393; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548275 | 2548275 | | | 2548275 | - | | |
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys) | 57465 | TBC1D24 | Uncertain significance | 1406095259 | RCV000818152; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2548276 | 2548276 | | | 16:g.2548276C>T | - | | |
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 754727069 | RCV000427658|RCV000792934|RCV003278798; | N | MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | 16 | 2548277 | 2548277 | | | NC_000016.9:g.2548277G>A | ClinGen:CA7844138 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp) | 57465 | TBC1D24 | Uncertain significance | 1159971280 | RCV001059169; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2548280 | 2548280 | | | 16:g.2548280C>G | - | | |
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 370244846 | RCV000194890|RCV000585115|RCV001079337|RCV001115527|RCV002381657; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123 | 16 | 2548281 | 2548281 | | | 16:g.2548281G>A | ClinGen:CA209353 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1026G>C (p.Ser342=) | 57465 | TBC1D24 | Likely benign | 370244846 | RCV002209816; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548281 | 2548281 | | | 2548281 | - | | |
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) | 57465 | TBC1D24 | Uncertain significance | 188124777 | RCV000189698|RCV000651570|RCV000726073|RCV002381644; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2548283 | 2548283 | | | NC_000016.9:g.2548283A>C | ClinGen:CA319056 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1030A>G (p.Ile344Val) | 57465 | TBC1D24 | Uncertain significance | 2141874280 | RCV001992167; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548285 | 2548285 | | | 2548285 | - | | |
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met) | 57465 | TBC1D24 | Uncertain significance | 769656369 | RCV001227916; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548287 | 2548287 | | | 16:g.2548287C>G | - | | |
NM_001199107.2(TBC1D24):c.1033G>A (p.Val345Ile) | 57465 | TBC1D24 | Uncertain significance | 777515811 | RCV001973737; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548288 | 2548288 | | | 2548288 | - | | |
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 377697825 | RCV000357060|RCV000438710|RCV000727318|RCV001087980|RCV002392866; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2548293 | 2548293 | | | NC_000016.9:g.2548293C>T | ClinGen:CA7844141 | C0917800 605021 Myoclonic epilepsy, familial infantile; | |
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met) | 57465 | TBC1D24 | Uncertain significance | 371031447 | RCV000585341|RCV000690987; | N | MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2548294 | 2548294 | | | 16:g.2548294G>A | ClinGen:CA7844142 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr) | 57465 | TBC1D24 | Uncertain significance | 1475264921 | RCV000651564; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2548304 | 2548304 | | | NC_000016.9:g.2548304T>C | ClinGen:CA394378661 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys) | 57465 | TBC1D24 | Uncertain significance | 375571181 | RCV001247549; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548307 | 2548307 | | | 16:g.2548307G>A | - | | |
NM_001199107.2(TBC1D24):c.1071C>T (p.Val357=) | 57465 | TBC1D24 | Likely benign | 760897479 | RCV001452092; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548326 | 2548326 | | | 16:g.2548326C>T | - | | |
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr) | 57465 | TBC1D24 | Uncertain significance | 368150932 | RCV000699167|RCV000730515|RCV002533550; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 16 | 2548327 | 2548327 | | | 16:g.2548327C>A | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) | 57465 | TBC1D24 | Benign/Likely benign | 75961715 | RCV000128369|RCV000262163|RCV000651582|RCV002312623; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2548329 | 2548329 | | | NC_000016.9:g.2548329C>T | ClinGen:CA293872 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln) | 57465 | TBC1D24 | Uncertain significance | 762442022 | RCV001058770; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2548330 | 2548330 | | | 16:g.2548330G>C | - | | |
NM_001199107.2(TBC1D24):c.1075G>A (p.Glu359Lys) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002615654; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2548330 | 2548330 | | | NC_000016.9:g.2548330G>A | - | | |
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) | 57465 | TBC1D24 | Uncertain significance | 1057519629 | RCV000417200|RCV000996172|RCV001072080; | N | Human Phenotype Ontology:HP:0001300,MedGen:C0242422|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2548333 | 2548333 | | | 16:g.2548333C>T | ClinGen:CA16044431 | C0242422 Parkinsonism; | |
NM_001199107.2(TBC1D24):c.1086C>T (p.Ala362=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002821046; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2548341 | 2548341 | | | | - | | |
NM_001199107.2(TBC1D24):c.1095G>A (p.Gln365=) | 57465 | TBC1D24 | Likely benign | 2141874394 | RCV002092202; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548350 | 2548350 | | | 2548350 | - | | |
NM_001199107.2(TBC1D24):c.1097C>T (p.Pro366Leu) | 57465 | TBC1D24 | Uncertain significance | 2141874400 | RCV001370792; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2548352 | 2548352 | | | 2548352 | - | | |
NM_001199107.2(TBC1D24):c.1100T>A (p.Leu367His) | 57465 | TBC1D24 | Uncertain significance | 2065761961 | RCV001321756; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548355 | 2548355 | | | 2548355 | - | | |
NM_001199107.2(TBC1D24):c.1110C>T (p.Phe370=) | 57465 | TBC1D24 | Likely benign | 1555501404 | RCV000549937; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2548365 | 2548365 | | | NC_000016.9:g.2548365C>T | ClinGen:CA493162478 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1119G>T (p.Leu373=) | 57465 | TBC1D24 | Likely benign | 2141874428 | RCV001394602; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548374 | 2548374 | | | 2548374 | - | | |
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 749163517 | RCV000219821|RCV000724360|RCV001078648|RCV001116951|RCV002433777; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123 | 16 | 2548380 | 2548380 | | | 16:g.2548380C>T | ClinGen:CA245183 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) | 57465 | TBC1D24 | Pathogenic | 1567413218 | RCV000690143; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548386 | 2548386 | | | 16:g.2548386C>G | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1137G>A (p.Leu379=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 1243475474 | RCV000733124|RCV001455895; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548392 | 2548392 | | | NC_000016.9:g.2548392G>A | - | | |
NM_001199107.2(TBC1D24):c.1138G>T (p.Ala380Ser) | 57465 | TBC1D24 | Uncertain significance | 2141874469 | RCV002038814; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2548393 | 2548393 | | | 2548393 | - | | |
NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs) | 57465 | TBC1D24 | Pathogenic | 1205407936 | RCV002035433; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548395 | 2548396 | | | 2548395 | - | | |
NM_001199107.2(TBC1D24):c.1142+6A>T | 57465 | TBC1D24 | Uncertain significance | 778930581 | RCV000557793; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2548403 | 2548403 | | | NC_000016.9:g.2548403A>T | ClinGen:CA7844157 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1142+7C>A | 57465 | TBC1D24 | Likely benign | 1364280797 | RCV001408133; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548404 | 2548404 | | | 2548404 | - | | |
NM_001199107.2(TBC1D24):c.1142+14G>A | 57465 | TBC1D24 | Likely benign | 745904419 | RCV000214163|RCV002057148; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548411 | 2548411 | | | NC_000016.9:g.2548411G>A | ClinGen:CA7844158 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1142+17C>A | 57465 | TBC1D24 | Benign | 199499346 | RCV000440371|RCV002061537; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2548414 | 2548414 | | | 16:g.2548414C>A | ClinGen:CA7844159 | CN169374 not specified; | |
NC_000016.9:g.(?_2549338)_(2550959_?)dup | 57465 | TBC1D24 | Uncertain significance | -1 | RCV001922871; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549338 | 2550959 | | | -1 | - | | |
NM_001199107.2(TBC1D24):c.1143-15G>A | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 371213803 | RCV000128370|RCV001116952|RCV002055836; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549343 | 2549343 | | | NC_000016.9:g.2549343G>A | ClinGen:CA293875 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1143-9C>G | 57465 | TBC1D24 | Likely benign | -1 | RCV003050459; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549349 | 2549349 | | | NC_000016.9:g.2549349C>G | - | | |
NM_001199107.2(TBC1D24):c.1143-6C>T | 57465 | TBC1D24 | Benign/Likely benign | 73490287 | RCV000118574|RCV000353539|RCV000467526|RCV002498537; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|6 conditions | 16 | 2549352 | 2549352 | | | 16:g.2549352C>T | ClinGen:CA289056 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1143-5G>T | 57465 | TBC1D24 | Likely benign | 754105574 | RCV001492682; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549353 | 2549353 | | | 16:g.2549353G>T | - | | |
NM_001199107.2(TBC1D24):c.1143-5G>A | 57465 | TBC1D24 | Likely benign | 754105574 | RCV001471923; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549353 | 2549353 | | | 2549353 | - | | |
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter) | 57465 | TBC1D24 | Pathogenic | 2065771024 | RCV001057682|RCV002348423; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2549368 | 2549368 | | | 16:g.2549368C>T | - | | |
NM_001199107.2(TBC1D24):c.1166A>G (p.His389Arg) | 57465 | TBC1D24 | Uncertain significance | 528162903 | RCV001915156; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549381 | 2549381 | | | 2549381 | - | | |
NM_001199107.2(TBC1D24):c.1167T>C (p.His389=) | 57465 | TBC1D24 | Likely benign | 2065771222 | RCV002086348; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2549382 | 2549382 | | | 2549382 | - | | |
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 1435411888 | RCV001862031|RCV001311423|RCV002314524; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2549386 | 2549386 | | | NC_000016.9:g.2549386C>G | - | | |
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 61731477 | RCV000349147|RCV000462511|RCV001705419|RCV002338842; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2549411 | 2549411 | | | 16:g.2549411C>T | ClinGen:CA7844191 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1198_1200dup (p.Gln400dup) | 57465 | TBC1D24 | Uncertain significance | 752216831 | RCV002000610; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2549411 | 2549412 | | | 2549411 | - | | |
NM_001199107.2(TBC1D24):c.1197G>A (p.Thr399=) | 57465 | TBC1D24 | Likely benign | 568288551 | RCV002088294; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2549412 | 2549412 | | | 2549412 | - | | |
NM_001199107.2(TBC1D24):c.1206+6C>T | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 974544530 | RCV001578131|RCV001882692; | N | MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549427 | 2549427 | | | 2549427 | - | | |
NM_001199107.2(TBC1D24):c.1206+7A>G | 57465 | TBC1D24 | Likely benign | 2065771868 | RCV002201155; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2549428 | 2549428 | | | 2549428 | - | | |
NM_001199107.2(TBC1D24):c.1206+11G>C | 57465 | TBC1D24 | Likely benign | -1 | RCV003055205; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549432 | 2549432 | | | NC_000016.9:g.2549432G>C | - | | |
NM_001199107.2(TBC1D24):c.1206+13C>T | 57465 | TBC1D24 | Likely benign | 376162122 | RCV000607220|RCV002066752; | N | MedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2549434 | 2549434 | | | 16:g.2549434C>T | ClinGen:CA7844198 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[4] | 57465 | TBC1D24 | Likely benign | 777798547 | RCV001969242; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2549440 | 2549441 | | | 2549440 | - | | |
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[2] | 57465 | TBC1D24 | Benign | 777798547 | RCV002136836; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549441 | 2549462 | | | 2549440 | - | | |
NM_001199107.2(TBC1D24):c.1207-20C>A | 57465 | TBC1D24 | Likely benign | 757347903 | RCV002182036; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549816 | 2549816 | | | 2549816 | - | | |
NM_001199107.2(TBC1D24):c.1207-20C>T | 57465 | TBC1D24 | Likely benign | -1 | RCV002853244; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549816 | 2549816 | | | NC_000016.9:g.2549816C>T | - | | |
NM_001199107.2(TBC1D24):c.1207-18C>T | 57465 | TBC1D24 | Likely benign | 372876116 | RCV002103098; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549818 | 2549818 | | | 2549818 | - | | |
NM_001199107.2(TBC1D24):c.1207-16C>G | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 201618854 | RCV000481666|RCV002063698; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2549820 | 2549820 | | | 16:g.2549820C>G | ClinGen:CA7844220 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1207-11C>T | 57465 | TBC1D24 | Likely benign | 778247648 | RCV001779795|RCV002074072; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549825 | 2549825 | | | 2549825 | - | | |
NM_001199107.2(TBC1D24):c.1207-7C>T | 57465 | TBC1D24 | Likely benign | 1348586468 | RCV001437449; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549829 | 2549829 | | | 2549829 | - | | |
NM_001199107.2(TBC1D24):c.1207-6C>G | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 749626631 | RCV000497575|RCV000696979; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549830 | 2549830 | | | 16:g.2549830C>G | ClinGen:CA7844222 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1207-6C>T | 57465 | TBC1D24 | Uncertain significance | 749626631 | RCV001933295; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549830 | 2549830 | | | 2549830 | - | | |
NM_001199107.2(TBC1D24):c.1209G>A (p.Val403=) | 57465 | TBC1D24 | Likely benign | 1165918189 | RCV001456376; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2549838 | 2549838 | | | 2549838 | - | | |
NM_001199107.2(TBC1D24):c.1209G>T (p.Val403=) | 57465 | TBC1D24 | Likely benign | -1 | RCV003037855; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2549838 | 2549838 | | | | - | | |
NM_001199107.2(TBC1D24):c.1213G>A (p.Gly405Ser) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002685918; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549842 | 2549842 | | | NC_000016.9:g.2549842G>A | - | | |
NM_001199107.2(TBC1D24):c.1221C>T (p.Tyr407=) | 57465 | TBC1D24 | Likely benign | 2065775888 | RCV002212701; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549850 | 2549850 | | | 2549850 | - | | |
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn) | 57465 | TBC1D24 | Uncertain significance | 2065776034 | RCV001210247; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2549867 | 2549867 | | | 16:g.2549867G>A | - | | |
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) | 57465 | TBC1D24 | Uncertain significance | 776176742 | RCV000189699|RCV000660651|RCV001232819|RCV002415814; | N | MedGen:CN517202|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582; MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:6160 | 16 | 2549882 | 2549882 | | | NC_000016.9:g.2549882T>C | ClinGen:CA319059 | C3809173 615338 Early infantile epileptic encephalopathy 16; | |
NM_001199107.2(TBC1D24):c.1253T>G (p.Phe418Cys) | 57465 | TBC1D24 | Uncertain significance | 776176742 | RCV001989078; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549882 | 2549882 | | | 2549882 | - | | |
NM_001199107.2(TBC1D24):c.1256G>C (p.Gly419Ala) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002820692; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549885 | 2549885 | | | NC_000016.9:g.2549885G>C | - | | |
NM_001199107.2(TBC1D24):c.1260C>A (p.Gly420=) | 57465 | TBC1D24 | Likely benign | 761432102 | RCV001392844; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2549889 | 2549889 | | | 2549889 | - | | |
NM_001199107.2(TBC1D24):c.1269C>T (p.Gly423=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002639763; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549898 | 2549898 | | | | - | | |
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys) | 57465 | TBC1D24 | Uncertain significance | 1596972145 | RCV000792963; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549900 | 2549900 | | | 16:g.2549900T>G | - | | |
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=) | 57465 | TBC1D24 | Likely benign | 377748101 | RCV000827361|RCV001435411; | N | MedGen:CN517202|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2549907 | 2549907 | | | 16:g.2549907G>A | - | | |
NM_001199107.2(TBC1D24):c.1281C>T (p.Thr427=) | 57465 | TBC1D24 | Likely benign | 200089341 | RCV001468764; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2549910 | 2549910 | | | 16:g.2549910C>T | ClinGen:CA7844233 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) | 57465 | TBC1D24 | Uncertain significance | 863224932 | RCV002518401; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2549917 | 2549917 | | | NC_000016.9:g.2549917T>C | ClinVar:424803,ClinGen:CA354165 | C1857345 220500 Digitorenocerebral syndrome; | |
NM_001199107.2(TBC1D24):c.1298T>C (p.Phe433Ser) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002662333; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2549927 | 2549927 | | | NC_000016.9:g.2549927T>C | - | | |
NM_001199107.2(TBC1D24):c.1302+9G>A | 57465 | TBC1D24 | Likely benign | 1197608274 | RCV001478789; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2549940 | 2549940 | | | 2549940 | - | | |
NM_001199107.2(TBC1D24):c.1302+14A>C | 57465 | TBC1D24 | Likely benign | 528462687 | RCV000216474|RCV002057149; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549945 | 2549945 | | | NC_000016.9:g.2549945A>C | ClinGen:CA7844239 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1302+17G>A | 57465 | TBC1D24 | Likely benign | 1173044946 | RCV002138447; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2549948 | 2549948 | | | 2549948 | - | | |
NM_001199107.2(TBC1D24):c.1302+19C>T | 57465 | TBC1D24 | Likely benign | -1 | RCV002949150; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2549950 | 2549950 | | | NC_000016.9:g.2549950C>T | - | | |
NM_001199107.2(TBC1D24):c.1303-18A>G | 57465 | TBC1D24 | Likely benign | 2141876962 | RCV002007601; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550251 | 2550251 | | | 2550251 | - | | |
NM_001199107.2(TBC1D24):c.1303-14C>T | 57465 | TBC1D24 | Likely benign | 1211054848 | RCV002148563; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550255 | 2550255 | | | 2550255 | - | | |
NM_001199107.2(TBC1D24):c.1303-7A>G | 57465 | TBC1D24 | Likely benign | 2141876976 | RCV002091842; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550262 | 2550262 | | | 2550262 | - | | |
NM_001199107.2(TBC1D24):c.1303-5C>G | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 1468286638 | RCV000599047|RCV002062112; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550264 | 2550264 | | | 16:g.2550264C>G | ClinGen:CA620709378 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1303-5C>A | 57465 | TBC1D24 | Uncertain significance | 1468286638 | RCV001241424; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550264 | 2550264 | | | 16:g.2550264C>A | - | | |
NM_001199107.2(TBC1D24):c.1303-2A>G | 57465 | TBC1D24 | Likely pathogenic | 2141876985 | RCV002041046; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550267 | 2550267 | | | 2550267 | - | | |
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly) | 57465 | TBC1D24 | Uncertain significance | 775497984 | RCV000810363; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550287 | 2550287 | | | 16:g.2550287C>G | - | | |
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 775497984 | RCV000804069|RCV001542063|RCV002381761; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 16 | 2550287 | 2550287 | | | 16:g.2550287C>T | - | | |
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His) | 57465 | TBC1D24 | Uncertain significance | 556865791 | RCV000691094|RCV002386193; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2550288 | 2550288 | | | NC_000016.9:g.2550288G>A | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) | 57465 | TBC1D24 | Benign/Likely benign | 184639841 | RCV000118575|RCV000268514|RCV000710263|RCV001081227|RCV002316322|RCV002490814; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123|6 | 16 | 2550292 | 2550292 | | | 16:g.2550292C>T | ClinGen:CA289057 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 141399869 | RCV000190450|RCV000726025|RCV001079461|RCV002054246|RCV002317666; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500; MONDO:MONDO:00115 | 16 | 2550293 | 2550293 | | | NC_000016.9:g.2550293G>A | ClinGen:CA319677 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln) | 57465 | TBC1D24 | Uncertain significance | 141399869 | RCV000703437; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550293 | 2550293 | | | NC_000016.9:g.2550293G>C | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1335G>C (p.Val445=) | 57465 | TBC1D24 | Likely benign | -1 | RCV002847450; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550301 | 2550301 | | | | - | | |
NM_001199107.2(TBC1D24):c.1341C>T (p.Ile447=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 372317366 | RCV000323603|RCV001418264; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550307 | 2550307 | | | NC_000016.9:g.2550307C>T | ClinGen:CA7844272 | C0917800 605021 Myoclonic epilepsy, familial infantile; | |
NM_001199107.2(TBC1D24):c.1341C>A (p.Ile447=) | 57465 | TBC1D24 | Likely benign | 372317366 | RCV001394419; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550307 | 2550307 | | | NC_000016.9:g.2550307C>A | ClinGen:CA16615320 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1347C>T (p.His449=) | 57465 | TBC1D24 | Likely benign | -1 | RCV003073145; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550313 | 2550313 | | | | - | | |
NM_001199107.2(TBC1D24):c.1350C>T (p.Pro450=) | 57465 | TBC1D24 | Likely benign | 375320196 | RCV000866929; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550316 | 2550316 | | | 16:g.2550316C>T | - | | |
NM_001199107.2(TBC1D24):c.1353G>A (p.Glu451=) | 57465 | TBC1D24 | Likely benign | 1231827471 | RCV001487167; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550319 | 2550319 | | | 16:g.2550319G>A | - | | |
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) | 57465 | TBC1D24 | Pathogenic/Likely pathogenic | 1292551263 | RCV000485932|RCV002496869|RCV002526609; | N | MedGen:CN517202|6 conditions|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550324 | 2550325 | | | 16:g.2550324_2550325insCAAG | ClinGen:CA16620171 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.1360A>G (p.Lys454Glu) | 57465 | TBC1D24 | Uncertain significance | 758697406 | RCV001508408|RCV002564241; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550326 | 2550326 | | | 2550326 | - | | |
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala) | 57465 | TBC1D24 | Uncertain significance | 2065781206 | RCV001236752; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550329 | 2550329 | | | 16:g.2550329C>G | - | | |
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln) | 57465 | TBC1D24 | Uncertain significance | 200641000 | RCV000488271|RCV001040182|RCV003449256; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105, Orphanet:163727 | 16 | 2550333 | 2550333 | | | 16:g.2550333C>A | ClinGen:CA7844277 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 200641000 | RCV000498808|RCV000702572|RCV001120224; | N | MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582 | 16 | 2550333 | 2550333 | | | 16:g.2550333C>T | ClinGen:CA7844276 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1381G>A (p.Ala461Thr) | 57465 | TBC1D24 | Uncertain significance | 201911646 | RCV001349496; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550347 | 2550347 | | | 2550347 | - | | |
NM_001199107.2(TBC1D24):c.1383C>T (p.Ala461=) | 57465 | TBC1D24 | Likely benign | 552951046 | RCV001502375; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550349 | 2550349 | | | 2550349 | - | | |
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys) | 57465 | TBC1D24 | Uncertain significance | 368678094 | RCV001226467|RCV001552116|RCV003405412; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900| | 16 | 2550350 | 2550350 | | | 16:g.2550350G>A | - | | |
NM_001199107.2(TBC1D24):c.1392C>T (p.Thr464=) | 57465 | TBC1D24 | Likely benign | 199865687 | RCV000229919|RCV003422139; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 2550358 | 2550358 | | | NC_000016.9:g.2550358C>T | ClinGen:CA7844282 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) | 57465 | TBC1D24 | Uncertain significance | 745535369 | RCV001244842|RCV002484357; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|6 conditions | 16 | 2550359 | 2550359 | | | 16:g.2550359G>A | - | | |
NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs) | 57465 | TBC1D24 | Pathogenic | 2141877166 | RCV001880605; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550360 | 2550360 | | | 2550359 | - | | |
NM_001199107.2(TBC1D24):c.1402_1409dup (p.Ser472fs) | 57465 | TBC1D24 | Pathogenic | -1 | RCV003016796; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550361 | 2550362 | | | NC_000016.9:g.2550368_2550375dup | - | | |
NM_001199107.2(TBC1D24):c.1399C>A (p.Leu467Ile) | 57465 | TBC1D24 | Uncertain significance | 951307443 | RCV001940567; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550365 | 2550365 | | | 2550365 | - | | |
NM_001199107.2(TBC1D24):c.1405C>T (p.His469Tyr) | 57465 | TBC1D24 | Uncertain significance | 2065781840 | RCV001301438; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550371 | 2550371 | | | 2550371 | - | | |
NM_001199107.2(TBC1D24):c.1407C>T (p.His469=) | 57465 | TBC1D24 | Likely benign | 2141877201 | RCV002076541; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550373 | 2550373 | | | 2550373 | - | | |
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 553497128 | RCV000866750|RCV001638002; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900 | 16 | 2550376 | 2550376 | | | 16:g.2550376C>T | - | | |
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=) | 57465 | TBC1D24 | Likely benign | 553497128 | RCV001195351|RCV001431799; | N | MedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550376 | 2550376 | | | 16:g.2550376C>A | - | | |
NM_001199107.2(TBC1D24):c.1410C>G (p.Ser470=) | 57465 | TBC1D24 | Likely benign | 553497128 | RCV001404870; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550376 | 2550376 | | | 2550376 | - | | |
NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 377448015 | RCV000487645|RCV000809407|RCV002395183; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2550377 | 2550377 | | | NC_000016.9:g.2550377G>A | ClinGen:CA7844289 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.1413C>T (p.Ala471=) | 57465 | TBC1D24 | Likely benign | 761742075 | RCV001583329|RCV002072304; | N | MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550379 | 2550379 | | | 2550379 | - | | |
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 370869383 | RCV000378316|RCV000431221|RCV000731194|RCV001089436; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550391 | 2550391 | | | NC_000016.9:g.2550391C>T | ClinGen:CA7844291 | C0917800 605021 Myoclonic epilepsy, familial infantile; | |
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) | 57465 | TBC1D24 | Uncertain significance | 773304369 | RCV000819630|RCV001256122|RCV001759600|RCV002537442; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype On | 16 | 2550392 | 2550392 | | | 16:g.2550392G>A | - | | |
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) | 57465 | TBC1D24 | Benign/Likely benign | 202216463 | RCV000441062|RCV000514560|RCV001084227|RCV002318397|RCV002506020; | N | MedGen:CN169374|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123|6 conditions | 16 | 2550393 | 2550393 | | | 16:g.2550393C>A | ClinGen:CA7844293 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1433G>A (p.Arg478His) | 57465 | TBC1D24 | Uncertain significance | 1596972871 | RCV001983695; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550399 | 2550399 | | | 2550399 | - | | |
NM_001199107.2(TBC1D24):c.1437C>T (p.Leu479=) | 57465 | TBC1D24 | Likely benign | 1406537159 | RCV001454835; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550403 | 2550403 | | | 2550403 | - | | |
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu) | 57465 | TBC1D24 | Uncertain significance | 2065782431 | RCV001197129|RCV001247879; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550405 | 2550405 | | | 16:g.2550405C>T | - | | |
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) | 57465 | TBC1D24 | Benign | 12373107 | RCV000118576|RCV000232700|RCV000264839|RCV001636674|RCV002312510; | N | MedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2550406 | 2550406 | | | 16:g.2550406G>A | ClinGen:CA155648 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1446C>T (p.Phe482=) | 57465 | TBC1D24 | Likely benign | 2065782529 | RCV001405239; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550412 | 2550412 | | | 2550412 | - | | |
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) | 57465 | TBC1D24 | Uncertain significance | 774586263 | RCV000428266|RCV001069475|RCV002393011; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123 | 16 | 2550419 | 2550419 | | | 16:g.2550419G>A | ClinGen:CA7844299 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys) | 57465 | TBC1D24 | Uncertain significance | 750028854 | RCV001036955|RCV001564062|RCV002552469; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 16 | 2550422 | 2550422 | | | 16:g.2550422C>T | - | | |
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His) | 57465 | TBC1D24 | Uncertain significance | 796053405 | RCV000189700|RCV000766893|RCV001852516; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550423 | 2550423 | | | NC_000016.9:g.2550423G>A | ClinGen:CA319062 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1466A>G (p.Asn489Ser) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002816320; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550432 | 2550432 | | | NC_000016.9:g.2550432A>G | - | | |
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 779963634 | RCV000220103|RCV000329560|RCV000472988; | N | MedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550433 | 2550433 | | | NC_000016.9:g.2550433C>T | ClinGen:CA7844302 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1471C>T (p.Pro491Ser) | 57465 | TBC1D24 | Uncertain significance | 1326854687 | RCV002037147; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550437 | 2550437 | | | 2550437 | - | | |
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 370427146 | RCV000189675|RCV000729449|RCV001086466|RCV002390501; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123 | 16 | 2550439 | 2550439 | | | NC_000016.9:g.2550439C>G | ClinGen:CA319002 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1474T>A (p.Ser492Thr) | 57465 | TBC1D24 | Uncertain significance | 2141877364 | RCV001988176; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550440 | 2550440 | | | 2550440 | - | | |
NM_001199107.2(TBC1D24):c.1482C>G (p.Thr494=) | 57465 | TBC1D24 | Likely benign | 373862230 | RCV000435014|RCV002062728; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550448 | 2550448 | | | 16:g.2550448C>G | ClinGen:CA7844305 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1482C>T (p.Thr494=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 373862230 | RCV001120225|RCV001442337; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550448 | 2550448 | | | 16:g.2550448C>T | - | | |
NM_001199107.2(TBC1D24):c.1483G>A (p.Glu495Lys) | 57465 | TBC1D24 | Uncertain significance | 769751880 | RCV001302377; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550449 | 2550449 | | | 2550449 | - | | |
NM_001199107.2(TBC1D24):c.1488del (p.Met497fs) | 57465 | TBC1D24 | Pathogenic | -1 | RCV003027922; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550453 | 2550453 | | | NC_000016.9:g.2550454del | - | | |
NM_001199107.2(TBC1D24):c.1489A>G (p.Met497Val) | 57465 | TBC1D24 | Uncertain significance | 2065783244 | RCV001944916; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550455 | 2550455 | | | 2550455 | - | | |
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr) | 57465 | TBC1D24 | Uncertain significance | 367710709 | RCV000189701|RCV000766894|RCV001069416; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550456 | 2550456 | | | 16:g.2550456T>C | ClinGen:CA319065 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1495A>G (p.Met499Val) | 57465 | TBC1D24 | Uncertain significance | 2065783330 | RCV001885815; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550461 | 2550461 | | | 2550461 | - | | |
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile) | 57465 | TBC1D24 | Uncertain significance | 1403522004 | RCV001244588; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550463 | 2550463 | | | 16:g.2550463G>A | - | | |
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) | 57465 | TBC1D24 | Pathogenic/Likely pathogenic | 564477999 | RCV000481838|RCV000800580|RCV000808207; | N | MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105, Orphanet:163727 | 16 | 2550465 | 2550465 | | | NC_000016.9:g.2550465C>T | ClinGen:CA16620172,OMIM:613577.0018 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly) | 57465 | TBC1D24 | Likely pathogenic | -1 | RCV003070095; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550465 | 2550465 | | | NC_000016.9:g.2550465C>G | - | | |
NM_001199107.2(TBC1D24):c.1505dup (p.Ser503fs) | 57465 | TBC1D24 | Pathogenic | -1 | RCV002716714; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550465 | 2550466 | | | NC_000016.9:g.2550471dup | - | | |
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) | 57465 | TBC1D24 | Benign/Likely benign | 201059992 | RCV000118577|RCV000477033|RCV001082064|RCV001120226|RCV002313924; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123 | 16 | 2550466 | 2550466 | | | 16:g.2550466G>A | ClinGen:CA289060 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1500G>C (p.Ala500=) | 57465 | TBC1D24 | Likely benign | 201059992 | RCV001449028; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550466 | 2550466 | | | 2550466 | - | | |
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) | 57465 | TBC1D24 | Benign/Likely benign | 368735897 | RCV000189676|RCV000863639|RCV002311284|RCV002510810; | N | MedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 16 | 2550469 | 2550469 | | | NC_000016.9:g.2550469G>A | ClinGen:CA319005 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1505G>A (p.Gly502Asp) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002943883; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550471 | 2550471 | | | NC_000016.9:g.2550471G>A | - | | |
NM_001199107.2(TBC1D24):c.1506C>T (p.Gly502=) | 57465 | TBC1D24 | Likely benign | 1302904331 | RCV002191514; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550472 | 2550472 | | | 2550472 | - | | |
NM_001199107.2(TBC1D24):c.1508G>A (p.Ser503Asn) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003017744; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550474 | 2550474 | | | NC_000016.9:g.2550474G>A | - | | |
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) | 57465 | TBC1D24 | Benign/Likely benign | 189089167 | RCV000118578|RCV000227590|RCV000384074|RCV001082344|RCV002313925|RCV002498538; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123|6 | 16 | 2550475 | 2550475 | | | 16:g.2550475C>T | ClinGen:CA289063 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn) | 57465 | TBC1D24 | Uncertain significance | 767925237 | RCV000413354|RCV001313518; | N | MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550476 | 2550476 | | | 16:g.2550476G>A | ClinGen:CA7844309 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1513T>G (p.Cys505Gly) | 57465 | TBC1D24 | Uncertain significance | 761300077 | RCV001948039; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550479 | 2550479 | | | 2550479 | - | | |
NM_001199107.2(TBC1D24):c.1521C>T (p.Ile507=) | 57465 | TBC1D24 | Likely benign | 1269959991 | RCV001492928; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550487 | 2550487 | | | 2550487 | - | | |
NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=) | 57465 | TBC1D24 | Uncertain significance | 1333624924 | RCV000698836; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550490 | 2550490 | | | 16:g.2550490C>T | - | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 749994791 | RCV000488051|RCV000704799|RCV003335374; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596 | 16 | 2550491 | 2550491 | | | 16:g.2550491G>A | ClinGen:CA7844312 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1525+6C>T | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 758013935 | RCV000726024|RCV000810612; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550497 | 2550497 | | | NC_000016.9:g.2550497C>T | ClinGen:CA7844313 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1525+7G>A | 57465 | TBC1D24 | Likely benign | 1041091510 | RCV000526828; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550498 | 2550498 | | | NC_000016.9:g.2550498G>A | ClinGen:CA276810014 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1525+13A>C | 57465 | TBC1D24 | Benign/Likely benign | 751260694 | RCV000189677|RCV002056977; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550504 | 2550504 | | | NC_000016.9:g.2550504A>C | ClinGen:CA319008 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1525+16C>T | 57465 | TBC1D24 | Likely benign | 754724498 | RCV002113465; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550507 | 2550507 | | | 2550507 | - | | |
NM_001199107.2(TBC1D24):c.1525+17G>A | 57465 | TBC1D24 | Likely benign | 537260143 | RCV000428886|RCV002059660; | N | MedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550508 | 2550508 | | | 16:g.2550508G>A | ClinGen:CA7844316 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1526-20C>T | 57465 | TBC1D24 | Benign | 114367256 | RCV000128375|RCV001701525|RCV002055837; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550785 | 2550785 | | | NC_000016.9:g.2550785C>T | ClinGen:CA293876 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1526-13G>A | 57465 | TBC1D24 | Likely benign | 766052989 | RCV000423809|RCV002521541; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550792 | 2550792 | | | 16:g.2550792G>A | ClinGen:CA7844329 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1526-3C>T | 57465 | TBC1D24 | Uncertain significance | 752385354 | RCV001360519; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550802 | 2550802 | | | 2550802 | - | | |
NM_001199107.2(TBC1D24):c.1526-2A>C | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 1131691552 | RCV000492822|RCV001230508; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550803 | 2550803 | | | 16:g.2550803A>C | ClinGen:CA394381435 | CN517202 not provided; | |
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val) | 57465 | TBC1D24 | Uncertain significance | 796053406 | RCV000189702|RCV001852517; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550805 | 2550805 | | | NC_000016.9:g.2550805G>T | ClinGen:CA319068 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 749232409 | RCV001733449|RCV002405284|RCV002539831; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550809 | 2550809 | | | 2550809 | - | | |
NM_001199107.2(TBC1D24):c.1536C>T (p.Gly512=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 757328220 | RCV001120227|RCV001205948; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550815 | 2550815 | | | 16:g.2550815C>T | - | | |
NM_001199107.2(TBC1D24):c.1537G>A (p.Gly513Ser) | 57465 | TBC1D24 | Uncertain significance | 779026472 | RCV001998766; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550816 | 2550816 | | | 2550816 | - | | |
NM_001199107.2(TBC1D24):c.1539C>T (p.Gly513=) | 57465 | TBC1D24 | Likely benign | 1466557404 | RCV002019032; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550818 | 2550818 | | | 2550818 | - | | |
NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter) | 57465 | TBC1D24 | Pathogenic | 746057710 | RCV001903327; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550819 | 2550819 | | | 2550819 | - | | |
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 267607105 | RCV000000066|RCV000540418|RCV000730513|RCV002247226|RCV002399304; | N | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:22050 | 16 | 2550823 | 2550823 | | | 16:g.2550823C>T | ClinGen:CA339786,UniProtKB:Q9ULP9#VAR_064367,OMIM:613577.0002 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs) | 57465 | TBC1D24 | Pathogenic/Likely pathogenic | 2065786997 | RCV001581309|RCV001866104; | N | MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550826 | 2550841 | | | 2550825 | - | | |
NM_001199107.2(TBC1D24):c.1548C>T (p.Leu516=) | 57465 | TBC1D24 | Likely benign | 1555501692 | RCV001455512; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550827 | 2550827 | | | NC_000016.9:g.2550827C>T | ClinGen:CA493164622 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1554C>T (p.Ile518=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 369958726 | RCV000735041|RCV002067178; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550833 | 2550833 | | | NC_000016.9:g.2550833C>T | - | | |
NM_001199107.2(TBC1D24):c.1559G>A (p.Gly520Glu) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003078319; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550838 | 2550838 | | | NC_000016.9:g.2550838G>A | - | | |
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=) | 57465 | TBC1D24 | Uncertain significance | 971385188 | RCV001043023; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550839 | 2550839 | | | 16:g.2550839G>T | - | | |
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn) | 57465 | TBC1D24 | Uncertain significance | 2065787303 | RCV001228395; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550840 | 2550840 | | | 16:g.2550840G>A | - | | |
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 78644690 | RCV000218064|RCV000867209|RCV001002765|RCV001120531|RCV001589120|RCV002295290|RCV002315673; | N | MedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021 | 16 | 2550849 | 2550849 | | | 16:g.2550849C>T | ClinGen:CA7844347 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) | 57465 | TBC1D24 | Uncertain significance | 758997013 | RCV000820925|RCV001575450|RCV002537482; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 16 | 2550850 | 2550850 | | | 16:g.2550850G>A | - | | |
NM_001199107.2(TBC1D24):c.1574del (p.Gly525fs) | 57465 | TBC1D24 | Pathogenic | -1 | RCV002890177; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550850 | 2550850 | | | NC_000016.9:g.2550853del | - | | |
NM_001199107.2(TBC1D24):c.1574G>A (p.Gly525Asp) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002739995; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550853 | 2550853 | | | NC_000016.9:g.2550853G>A | - | | |
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys) | 57465 | TBC1D24 | Uncertain significance | 767145914 | RCV000604516|RCV001868032; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550855 | 2550855 | | | 16:g.2550855C>T | ClinGen:CA7844349 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His) | 57465 | TBC1D24 | Uncertain significance | 752301570 | RCV000528924|RCV001764611; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900 | 16 | 2550856 | 2550856 | | | NC_000016.9:g.2550856G>A | ClinGen:CA7844350 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1581A>G (p.Thr527=) | 57465 | TBC1D24 | Likely benign | 1217553094 | RCV001445345; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550860 | 2550860 | | | 2550860 | - | | |
NM_001199107.2(TBC1D24):c.1582A>G (p.Ser528Gly) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV003033514; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550861 | 2550861 | | | NC_000016.9:g.2550861A>G | - | | |
NM_001199107.2(TBC1D24):c.1583G>A (p.Ser528Asn) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002982568; | N | MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550862 | 2550862 | | | NC_000016.9:g.2550862G>A | - | | |
NM_001199107.2(TBC1D24):c.1590C>T (p.Cys530=) | 57465 | TBC1D24 | Likely benign | 1060502501 | RCV001454146; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550869 | 2550869 | | | NC_000016.9:g.2550869C>T | ClinGen:CA16615138 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 1060502501 | RCV000460066|RCV000658119; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202 | 16 | 2550869 | 2550869 | | | NC_000016.9:g.2550869C>G | ClinGen:CA16615321 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1591G>A (p.Asp531Asn) | 57465 | TBC1D24 | Uncertain significance | 757236821 | RCV002034802|RCV002545281; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550870 | 2550870 | | | 2550870 | - | | |
NM_001199107.2(TBC1D24):c.1591G>T (p.Asp531Tyr) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002801932; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550870 | 2550870 | | | NC_000016.9:g.2550870G>T | - | | |
NM_001199107.2(TBC1D24):c.1601A>G (p.Asn534Ser) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002775037; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550880 | 2550880 | | | NC_000016.9:g.2550880A>G | - | | |
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs) | 57465 | TBC1D24 | Uncertain significance | 1567414972 | RCV000713764|RCV001861997; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805 | 16 | 2550884 | 2550884 | | | NC_000016.9:g.2550885del | - | | |
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser) | 57465 | TBC1D24 | Uncertain significance | 2065788002 | RCV001242981; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550888 | 2550888 | | | 16:g.2550888C>T | - | | |
NM_001199107.2(TBC1D24):c.1610C>A (p.Pro537His) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002727144; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550889 | 2550889 | | | NC_000016.9:g.2550889C>A | - | | |
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 781723084 | RCV000431896|RCV000651580|RCV000728076; | N | MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 2550899 | 2550899 | | | 16:g.2550899C>T | ClinGen:CA7844361 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1623G>A (p.Glu541=) | 57465 | TBC1D24 | Likely benign | 1596973590 | RCV000996173|RCV002068724; | N | MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550902 | 2550902 | | | 16:g.2550902G>A | - | | |
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu) | 57465 | TBC1D24 | Uncertain significance | 1060502502 | RCV000477080; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550906 | 2550906 | | | NC_000016.9:g.2550906T>C | ClinGen:CA16614891 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) | 57465 | TBC1D24 | Uncertain significance | 773874436 | RCV000438532|RCV001851091|RCV002481344; | N | MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|6 conditions | 16 | 2550912 | 2550912 | | | 16:g.2550912A>G | ClinGen:CA7844365 | CN169374 not specified; | |
NM_001199107.2(TBC1D24):c.1633A>T (p.Ile545Phe) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002706499; | N | MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550912 | 2550912 | | | NC_000016.9:g.2550912A>T | - | | |
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) | 57465 | TBC1D24 | Likely benign | 553215090 | RCV000541384|RCV001703557|RCV002318401; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 2550920 | 2550920 | | | 16:g.2550920C>A | ClinGen:CA7844368 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1641C>T (p.Ala547=) | 57465 | TBC1D24 | Likely benign | 553215090 | RCV000841850|RCV002067544; | N | MedGen:CN517202|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805 | 16 | 2550920 | 2550920 | | | 16:g.2550920C>T | - | | |
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) | 57465 | TBC1D24 | Conflicting interpretations of pathogenicity | 201649140 | RCV000444565|RCV000727315|RCV001083452|RCV001120532|RCV002314161; | N | MedGen:CN169374|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123 | 16 | 2550921 | 2550921 | | | 16:g.2550921G>A | ClinGen:CA7844370 | C3809181 Caused by mutation in the TBC1 domain family, member 24; | |
NM_001199107.2(TBC1D24):c.1655G>T (p.Gly552Val) | 57465 | TBC1D24 | Uncertain significance | -1 | RCV002614198; | N | MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 2550934 | 2550934 | | | NC_000016.9:g.2550934G>T | - | | |
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter) | 57465 | TBC1D24 | Uncertain significance | 1253505916 | RCV000722412|RCV002533066; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550954 | 2550954 | | | NC_000016.9:g.2550954C>T | - | | |
NM_001199107.2(TBC1D24):c.1676A>G (p.Gln559Arg) | 57465 | TBC1D24 | Uncertain significance | 1427285339 | RCV001895770; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635 | 16 | 2550955 | 2550955 | | | 2550955 | - | | |
NC_000016.9:g.(?_78133656)_(78466669_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV000535735; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133656 | 78466669 | | | | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NC_000016.9:g.(?_78133656)_(78133806_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV000707900; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133656 | 78133806 | | | | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NC_000016.9:g.(?_78133656)_(78658393_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV000708017; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133656 | 78658393 | | | | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NC_000016.9:g.(?_78133656)_(78149071_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV000818555; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133656 | 78149071 | | | | - | | |
NC_000016.10:g.(?_78099759)_(78099909_?)del | 51741 | WWOX | Pathogenic | -1 | RCV001032111; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133656 | 78133806 | | | -1 | - | | |
NC_000016.10:g.(?_78099759)_(78115174_?)del | 51741 | WWOX | Pathogenic | -1 | RCV001031172; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133656 | 78149071 | | | -1 | - | | |
NC_000016.10:g.(?_78099759)_(78432772_?)del | 51741 | WWOX | Pathogenic | -1 | RCV001033320; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133656 | 78466669 | | | -1 | - | | |
NC_000016.9:g.(?_78133656)_(78458972_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV001362950; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133656 | 78458972 | | | -1 | - | | |
NM_016373.4(WWOX):c.-5C>T | 51741 | WWOX | Benign | 11545028 | RCV000244538|RCV000714212|RCV001510044|RCV002244632|RCV002244633; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162 | 16 | 78133671 | 78133671 | | | 16:g.78133671C>T | ClinGen:CA8182971 | CN169374 not specified; | |
NC_000016.9:g.(?_78133671)_(78466659_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV001305352; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133671 | 78466659 | | | -1 | - | | |
NC_000016.9:g.(?_78133671)_(78149061_?)del | 51741 | WWOX | Pathogenic | -1 | RCV001390383; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133671 | 78149061 | | | -1 | - | | |
NC_000016.9:g.(?_78133676)_(79633799_?)del | 51741 | WWOX | Pathogenic | -1 | RCV003119738; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133676 | 79633799 | | | | - | | |
NC_000016.9:g.(?_78133676)_(78420865_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV003119741; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133676 | 78420865 | | | | - | | |
NC_000016.9:g.(?_78133676)_(78466669_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV003119743; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133676 | 78466669 | | | | - | | |
NM_016373.4(WWOX):c.1A>C (p.Met1Leu) | 51741 | WWOX | Pathogenic | -1 | RCV002780125; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133676 | 78133676 | | | NC_000016.9:g.78133676A>C | - | | |
NM_016373.4(WWOX):c.2T>C (p.Met1Thr) | 51741 | WWOX | Pathogenic | -1 | RCV002570027; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133677 | 78133677 | | | NC_000016.9:g.78133677T>C | - | | |
NM_016373.4(WWOX):c.7G>A (p.Ala3Thr) | 51741 | WWOX | Uncertain significance | 1336300148 | RCV000533127|RCV001764599; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78133682 | 78133682 | | | NC_000016.9:g.78133682G>A | ClinGen:CA396841736 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.7G>T (p.Ala3Ser) | 51741 | WWOX | Uncertain significance | 1336300148 | RCV001064413; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133682 | 78133682 | | | 16:g.78133682G>T | - | | |
NM_016373.4(WWOX):c.8C>T (p.Ala3Val) | 51741 | WWOX | Uncertain significance | 1241157001 | RCV000812755; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133683 | 78133683 | | | 16:g.78133683C>T | - | | |
NM_016373.4(WWOX):c.9G>C (p.Ala3=) | 51741 | WWOX | Likely benign | 778036247 | RCV000419940|RCV002059785; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133684 | 78133684 | | | 16:g.78133684G>C | ClinGen:CA8182974 | CN169374 not specified; | |
NM_016373.4(WWOX):c.10C>G (p.Leu4Val) | 51741 | WWOX | Uncertain significance | 751733610 | RCV001969933|RCV002562839; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 78133685 | 78133685 | | | 78133685 | - | | |
NM_016373.4(WWOX):c.12G>A (p.Leu4=) | 51741 | WWOX | Likely benign | 2151651643 | RCV002165033; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133687 | 78133687 | | | 78133687 | - | | |
NM_016373.4(WWOX):c.15C>G (p.Arg5=) | 51741 | WWOX | Uncertain significance | 2031625331 | RCV001067789; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133690 | 78133690 | | | 16:g.78133690C>G | - | | |
NM_016373.4(WWOX):c.18C>T (p.Tyr6=) | 51741 | WWOX | Likely benign | -1 | RCV002609754; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133693 | 78133693 | | | | - | | |
NM_016373.4(WWOX):c.19G>A (p.Ala7Thr) | 51741 | WWOX | Uncertain significance | 371392600 | RCV001957246; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133694 | 78133694 | | | 78133694 | - | | |
NM_016373.4(WWOX):c.24G>A (p.Gly8=) | 51741 | WWOX | Likely benign | 960284644 | RCV001482697; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133699 | 78133699 | | | 16:g.78133699G>A | - | | |
NM_016373.4(WWOX):c.28G>C (p.Asp10His) | 51741 | WWOX | Uncertain significance | 781180473 | RCV001244041|RCV003284115; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 78133703 | 78133703 | | | 16:g.78133703G>C | - | | |
NM_016373.4(WWOX):c.30C>T (p.Asp10=) | 51741 | WWOX | Likely benign | 373146723 | RCV002182441; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133705 | 78133705 | | | 78133705 | - | | |
NM_016373.4(WWOX):c.32A>T (p.Asp11Val) | 51741 | WWOX | Uncertain significance | 1597189624 | RCV000805638; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133707 | 78133707 | | | 16:g.78133707A>T | - | | |
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 1567567249 | RCV000690341|RCV002286420; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133710 | 78133710 | | | 16:g.78133710C>G | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.36G>C (p.Thr12=) | 51741 | WWOX | Likely benign | 1438602210 | RCV000650214; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133711 | 78133711 | | | 16:g.78133711G>C | ClinGen:CA496609358 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.36G>T (p.Thr12=) | 51741 | WWOX | Likely benign | 1438602210 | RCV002155497; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133711 | 78133711 | | | 78133711 | - | | |
NM_016373.4(WWOX):c.36G>A (p.Thr12=) | 51741 | WWOX | Likely benign | 1438602210 | RCV002098959; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133711 | 78133711 | | | 78133711 | - | | |
NM_016373.4(WWOX):c.46_49del (p.Asp16fs) | 51741 | WWOX | Pathogenic | 730880291 | RCV000157087|RCV001850176; | N | MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133720 | 78133723 | | | 16:g.78133720_78133723del | ClinGen:CA213107,OMIM:605131.0009 | C4015519 616211 Epileptic encephalopathy, early infantile, 28; | |
NM_016373.4(WWOX):c.45G>T (p.Glu15Asp) | 51741 | WWOX | Uncertain significance | 770319919 | RCV001070799; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133720 | 78133720 | | | 16:g.78133720G>T | - | | |
NM_016373.4(WWOX):c.45G>A (p.Glu15=) | 51741 | WWOX | Likely benign | 770319919 | RCV002079174; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133720 | 78133720 | | | 78133720 | - | | |
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 780345312 | RCV001823026|RCV001869806; | N | MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133724 | 78133724 | | | 78133724 | - | | |
NM_016373.4(WWOX):c.51G>T (p.Glu17Asp) | 51741 | WWOX | Uncertain significance | 991773402 | RCV000551267|RCV003153725; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78133726 | 78133726 | | | 16:g.78133726G>T | ClinGen:CA284502472 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.52C>A (p.Leu18Met) | 51741 | WWOX | Uncertain significance | 776553279 | RCV000690342; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133727 | 78133727 | | | NC_000016.9:g.78133727C>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.52C>G (p.Leu18Val) | 51741 | WWOX | Uncertain significance | 776553279 | RCV001341234; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133727 | 78133727 | | | 78133727 | - | | |
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) | 51741 | WWOX | Uncertain significance | 761638116 | RCV001053713|RCV002481980|RCV003141985|RCV002553761; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:00 | 16 | 78133734 | 78133734 | | | 16:g.78133734C>T | - | | |
NM_016373.4(WWOX):c.59C>G (p.Pro20Arg) | 51741 | WWOX | Uncertain significance | 761638116 | RCV001964208; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133734 | 78133734 | | | 78133734 | - | | |
NM_016373.4(WWOX):c.60G>C (p.Pro20=) | 51741 | WWOX | Likely benign | 376165565 | RCV000863160|RCV001576815; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78133735 | 78133735 | | | 16:g.78133735G>C | - | | |
NM_016373.4(WWOX):c.66G>T (p.Trp22Cys) | 51741 | WWOX | Uncertain significance | 1231403909 | RCV001969693; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133741 | 78133741 | | | 78133741 | - | | |
NM_016373.4(WWOX):c.72G>A (p.Glu24=) | 51741 | WWOX | Likely benign | 1255601873 | RCV002201052; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133747 | 78133747 | | | 78133747 | - | | |
NM_016373.4(WWOX):c.77CCA[1] (p.Thr27del) | 51741 | WWOX | Uncertain significance | 763124571 | RCV001343112; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133751 | 78133753 | | | 78133750 | - | | |
NM_016373.4(WWOX):c.78C>T (p.Thr26=) | 51741 | WWOX | Likely benign | 761493229 | RCV000870475|RCV002064652; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78133753 | 78133753 | | | 16:g.78133753C>T | - | | |
NM_016373.4(WWOX):c.81C>A (p.Thr27=) | 51741 | WWOX | Likely benign | -1 | RCV002894471; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133756 | 78133756 | | | | - | | |
NM_016373.4(WWOX):c.82A>C (p.Lys28Gln) | 51741 | WWOX | Uncertain significance | 771726317 | RCV001059820|RCV001760018|RCV002553872; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 16 | 78133757 | 78133757 | | | 16:g.78133757A>C | - | | |
NM_016373.4(WWOX):c.82A>G (p.Lys28Glu) | 51741 | WWOX | Uncertain significance | -1 | RCV003111859; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133757 | 78133757 | | | NC_000016.9:g.78133757A>G | - | | |
NM_016373.4(WWOX):c.90C>T (p.Gly30=) | 51741 | WWOX | Likely benign | 772839022 | RCV000650197; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133765 | 78133765 | | | 16:g.78133765C>T | ClinGen:CA8182988 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.94G>A (p.Val32Ile) | 51741 | WWOX | Uncertain significance | 2031635728 | RCV001366966; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133769 | 78133769 | | | 78133769 | - | | |
NM_016373.4(WWOX):c.99C>T (p.Tyr33=) | 51741 | WWOX | Likely benign | 760762887 | RCV001402746; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133774 | 78133774 | | | NC_000016.9:g.78133774C>T | ClinGen:CA8182989 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.101A>G (p.Tyr34Cys) | 51741 | WWOX | Uncertain significance | 766309882 | RCV000230460; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133776 | 78133776 | | | 16:g.78133776A>G | ClinGen:CA10583429 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.106A>G (p.Asn36Asp) | 51741 | WWOX | Uncertain significance | 1385155926 | RCV001207166|RCV002561245; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | 16 | 78133781 | 78133781 | | | 16:g.78133781A>G | - | | |
NM_016373.4(WWOX):c.107A>T (p.Asn36Ile) | 51741 | WWOX | Uncertain significance | 1316489119 | RCV001867126; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133782 | 78133782 | | | 78133782 | - | | |
NM_016373.4(WWOX):c.107+1G>A | 51741 | WWOX | Pathogenic/Likely pathogenic | 1300924648 | RCV000850618|RCV000989638|RCV001858475|RCV002252255|RCV003332268; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0 | 16 | 78133783 | 78133783 | | | 16:g.78133783G>A | - | | |
NM_016373.4(WWOX):c.107+9del | 51741 | WWOX | Benign | 2151651994 | RCV002096675; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133787 | 78133787 | | | 78133786 | - | | |
NM_016373.4(WWOX):c.107+6G>A | 51741 | WWOX | Uncertain significance | 1276657647 | RCV001367732; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133788 | 78133788 | | | 78133788 | - | | |
NM_016373.4(WWOX):c.107+12G>T | 51741 | WWOX | Likely benign | 753626622 | RCV002184749; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78133794 | 78133794 | | | 78133794 | - | | |
NM_016373.4(WWOX):c.107+13C>T | 51741 | WWOX | Likely benign | -1 | RCV003083111; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133795 | 78133795 | | | NC_000016.9:g.78133795C>T | - | | |
NM_016373.4(WWOX):c.107+15G>A | 51741 | WWOX | Likely benign | -1 | RCV002828307; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133797 | 78133797 | | | NC_000016.9:g.78133797G>A | - | | |
NM_016373.4(WWOX):c.107+16T>G | 51741 | WWOX | Likely benign | 1313734754 | RCV002133176; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133798 | 78133798 | | | 78133798 | - | | |
NM_016373.4(WWOX):c.107+17G>C | 51741 | WWOX | Likely benign | -1 | RCV002616137; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78133799 | 78133799 | | | NC_000016.9:g.78133799G>C | - | | |
NM_016373.4(WWOX):c.107+18G>A | 51741 | WWOX | Benign/Likely benign | 146301453 | RCV000423386|RCV002065075|RCV002244900|RCV002244901; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78133800 | 78133800 | | | 16:g.78133800G>A | ClinGen:CA8182993 | CN169374 not specified; | |
NM_016373.4(WWOX):c.108-20G>A | 51741 | WWOX | Likely benign | 760210735 | RCV002150922; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142300 | 78142300 | | | 78142300 | - | | |
NM_016373.4(WWOX):c.108-13dup | 51741 | WWOX | Benign | 146697931 | RCV001511253|RCV000836291|RCV002245706|RCV002245707; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78142301 | 78142302 | | | 16:g.78142301_78142302insT | - | | |
NM_016373.4(WWOX):c.108-14_108-13dup | 51741 | WWOX | Benign/Likely benign | 146697931 | RCV001552196|RCV002072049|RCV002243301|RCV002243302; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78142301 | 78142302 | | | 78142301 | - | | |
NM_016373.4(WWOX):c.108-19A>T | 51741 | WWOX | Likely benign | -1 | RCV002666670; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142301 | 78142301 | | | NC_000016.9:g.78142301A>T | - | | |
NM_016373.4(WWOX):c.108-12_108-11del | 51741 | WWOX | Likely benign | 756598479 | RCV002094184; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142307 | 78142308 | | | 78142306 | - | | |
NM_016373.4(WWOX):c.108-12G>T | 51741 | WWOX | Benign | 67493355 | RCV000252444|RCV001510045|RCV002244637|RCV002244636; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:2842 | 16 | 78142308 | 78142308 | | | 16:g.78142308G>T | ClinGen:CA8183014 | CN169374 not specified; | |
NM_016373.4(WWOX):c.108-12del | 51741 | WWOX | Benign | 149533117 | RCV000485409|RCV001510854|RCV002244947|RCV002244948; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78142308 | 78142308 | | | NC_000016.9:g.78142308del | ClinGen:CA8183013 | CN169374 not specified; | |
NM_016373.4(WWOX):c.108-6dup | 51741 | WWOX | Benign/Likely benign | 754221329 | RCV001704617|RCV002056769|RCV002244951|RCV002244950; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:2842 | 16 | 78142308 | 78142309 | | | NC_000016.9:g.78142314dup | ClinGen:CA8183015 | CN169374 not specified; | |
NM_016373.4(WWOX):c.108-12G>C | 51741 | WWOX | Likely benign | -1 | RCV003031967; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142308 | 78142308 | | | NC_000016.9:g.78142308G>C | - | | |
NC_000016.9:g.(?_78142310)_(78142394_?)del | 51741 | WWOX | Pathogenic | -1 | RCV001951203; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142310 | 78142394 | | | -1 | - | | |
NM_016373.4(WWOX):c.108-7T>C | 51741 | WWOX | Likely benign | 2151665632 | RCV001489974; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142313 | 78142313 | | | 78142313 | - | | |
NM_016373.4(WWOX):c.108-3C>T | 51741 | WWOX | Uncertain significance | 1163967827 | RCV001300979; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142317 | 78142317 | | | 78142317 | - | | |
NM_016373.4(WWOX):c.108_112dup (p.Thr38fs) | 51741 | WWOX | Pathogenic | -1 | RCV002666550; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142319 | 78142320 | | | NC_000016.9:g.78142320_78142324dup | - | | |
NM_016373.4(WWOX):c.109C>G (p.His37Asp) | 51741 | WWOX | Uncertain significance | 770653451 | RCV001056009; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142321 | 78142321 | | | 16:g.78142321C>G | - | | |
NM_016373.4(WWOX):c.115GAG[1] (p.Glu40del) | 51741 | WWOX | Uncertain significance | 1301923654 | RCV001300161; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142327 | 78142329 | | | 78142326 | - | | |
NM_016373.4(WWOX):c.117G>A (p.Glu39=) | 51741 | WWOX | Likely benign | 368245025 | RCV002106015; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142329 | 78142329 | | | 78142329 | - | | |
NM_016373.4(WWOX):c.127C>T (p.Gln43Ter) | 51741 | WWOX | Pathogenic | 1284883505 | RCV001380098; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142339 | 78142339 | | | 78142339 | - | | |
NM_016373.4(WWOX):c.128A>G (p.Gln43Arg) | 51741 | WWOX | Uncertain significance | 754384834 | RCV000692651; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142340 | 78142340 | | | 16:g.78142340A>G | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter) | 51741 | WWOX | Pathogenic | 1057517846 | RCV000414691|RCV001850983; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142343 | 78142343 | | | NC_000016.9:g.78142343G>A | ClinGen:CA16042955 | | |
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) | 51741 | WWOX | Likely pathogenic | 1597207871 | RCV000989639; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142348 | 78142348 | | | 16:g.78142348C>T | - | | |
NM_016373.4(WWOX):c.146C>G (p.Thr49Ser) | 51741 | WWOX | Uncertain significance | -1 | RCV003029012; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142358 | 78142358 | | | NC_000016.9:g.78142358C>G | - | | |
NM_016373.4(WWOX):c.152A>G (p.Lys51Arg) | 51741 | WWOX | Uncertain significance | 2032292763 | RCV001228391|RCV002249816; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374 | 16 | 78142364 | 78142364 | | | 16:g.78142364A>G | - | | |
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) | 51741 | WWOX | Pathogenic | 587777248 | RCV000106406|RCV000824131; | N | MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142372 | 78142372 | | | NC_000016.9:g.78142372C>T | ClinGen:CA150822,OMIM:605131.0004 | C4015519 616211 Epileptic encephalopathy, early infantile, 28; | |
NM_016373.4(WWOX):c.160C>A (p.Arg54=) | 51741 | WWOX | Likely benign | 587777248 | RCV001412392; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142372 | 78142372 | | | 78142372 | - | | |
NM_016373.4(WWOX):c.164T>G (p.Val55Gly) | 51741 | WWOX | Uncertain significance | 775944673 | RCV001318965; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142376 | 78142376 | | | 78142376 | - | | |
NM_016373.4(WWOX):c.164T>C (p.Val55Ala) | 51741 | WWOX | Uncertain significance | 775944673 | RCV001914195; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142376 | 78142376 | | | 78142376 | - | | |
NM_016373.4(WWOX):c.165G>A (p.Val55=) | 51741 | WWOX | Likely benign | -1 | RCV002609372; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142377 | 78142377 | | | | - | | |
NM_016373.4(WWOX):c.167C>T (p.Ala56Val) | 51741 | WWOX | Uncertain significance | 530912550 | RCV000807035; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142379 | 78142379 | | | 16:g.78142379C>T | - | | |
NM_016373.4(WWOX):c.172+7A>G | 51741 | WWOX | Likely benign | 1307853735 | RCV000932435; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142391 | 78142391 | | | 16:g.78142391A>G | - | | |
NM_016373.4(WWOX):c.172+9G>A | 51741 | WWOX | Likely benign | 1220647416 | RCV000552662; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142393 | 78142393 | | | 16:g.78142393G>A | ClinGen:CA658658502 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.172+10T>A | 51741 | WWOX | Likely benign | 2032295814 | RCV001406816; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78142394 | 78142394 | | | 78142394 | - | | |
NM_016373.4(WWOX):c.172+19A>G | 51741 | WWOX | Likely benign | 1198975338 | RCV002118652; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78142403 | 78142403 | | | 78142403 | - | | |
NM_016373.4(WWOX):c.173-20C>G | 51741 | WWOX | Likely benign | -1 | RCV002627738; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143655 | 78143655 | | | NC_000016.9:g.78143655C>G | - | | |
NM_016373.4(WWOX):c.173-11T>C | 51741 | WWOX | Likely benign | 370729028 | RCV001704360|RCV002063368; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143664 | 78143664 | | | 16:g.78143664T>C | ClinGen:CA8183072 | CN169374 not specified; | |
NM_016373.4(WWOX):c.173-10T>G | 51741 | WWOX | Likely benign | 960259890 | RCV001228442; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143665 | 78143665 | | | 16:g.78143665T>G | - | | |
NM_016373.4(WWOX):c.173-9G>A | 51741 | WWOX | Likely benign | 768579025 | RCV001423504; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143666 | 78143666 | | | 78143666 | - | | |
NM_016373.4(WWOX):c.173-6T>G | 51741 | WWOX | Conflicting interpretations of pathogenicity | 200812468 | RCV000692826|RCV001335816|RCV001252636|RCV002532222|RCV003148830; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123| | 16 | 78143669 | 78143669 | | | NC_000016.9:g.78143669T>G | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.173-1G>T | 51741 | WWOX | Pathogenic | -1 | RCV003064358; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143674 | 78143674 | | | NC_000016.9:g.78143674G>T | - | | |
NM_016373.4(WWOX):c.173-1G>C | 51741 | WWOX | Pathogenic | -1 | RCV003042824; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143674 | 78143674 | | | NC_000016.9:g.78143674G>C | - | | |
NM_016373.4(WWOX):c.173A>G (p.Asp58Gly) | 51741 | WWOX | Uncertain significance | 2032380473 | RCV001206284; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143675 | 78143675 | | | 16:g.78143675A>G | - | | |
NM_016373.4(WWOX):c.177G>C (p.Leu59Phe) | 51741 | WWOX | Uncertain significance | 771850922 | RCV000684970; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143679 | 78143679 | | | NC_000016.9:g.78143679G>C | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.183C>T (p.Tyr61=) | 51741 | WWOX | Likely benign | 759766243 | RCV001474061; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143685 | 78143685 | | | 78143685 | - | | |
NM_016373.4(WWOX):c.184G>A (p.Gly62Arg) | 51741 | WWOX | Uncertain significance | 775696083 | RCV001208003|RCV003353210; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | 16 | 78143686 | 78143686 | | | 16:g.78143686G>A | - | | |
NM_016373.4(WWOX):c.184G>C (p.Gly62Arg) | 51741 | WWOX | Uncertain significance | 775696083 | RCV001907442; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143686 | 78143686 | | | 78143686 | - | | |
NM_016373.4(WWOX):c.193C>A (p.Gln65Lys) | 51741 | WWOX | Uncertain significance | 558101281 | RCV001060587|RCV001759816; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202 | 16 | 78143695 | 78143695 | | | 16:g.78143695C>A | - | | |
NM_016373.4(WWOX):c.200C>G (p.Thr67Ser) | 51741 | WWOX | Uncertain significance | 752003995 | RCV002044206; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78143702 | 78143702 | | | 78143702 | - | | |
NM_016373.4(WWOX):c.202G>T (p.Asp68Tyr) | 51741 | WWOX | Uncertain significance | 2032382985 | RCV001318171; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143704 | 78143704 | | | 78143704 | - | | |
NM_016373.4(WWOX):c.203A>G (p.Asp68Gly) | 51741 | WWOX | Uncertain significance | 1567575033 | RCV000707012; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78143705 | 78143705 | | | 16:g.78143705A>G | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.210C>T (p.Asn70=) | 51741 | WWOX | Likely benign | 762102064 | RCV000530935; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143712 | 78143712 | | | 16:g.78143712C>T | ClinGen:CA8183084 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.211G>A (p.Gly71Arg) | 51741 | WWOX | Uncertain significance | 767880120 | RCV001988383; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78143713 | 78143713 | | | 78143713 | - | | |
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) | 51741 | WWOX | Pathogenic/Likely pathogenic | 201008667 | RCV000521914|RCV000798699|RCV002527597; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835 | 16 | 78143716 | 78143716 | | | NC_000016.9:g.78143716C>T | ClinGen:CA8183087 | | |
NM_016373.4(WWOX):c.214C>G (p.Gln72Glu) | 51741 | WWOX | Uncertain significance | 201008667 | RCV001070124|RCV002554595; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 78143716 | 78143716 | | | 16:g.78143716C>G | - | | |
NM_016373.4(WWOX):c.216A>G (p.Gln72=) | 51741 | WWOX | Likely benign | 754962104 | RCV001438924; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143718 | 78143718 | | | 78143718 | - | | |
NM_016373.4(WWOX):c.222T>C (p.Phe74=) | 51741 | WWOX | Likely benign | 748079925 | RCV000611033|RCV001425247; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143724 | 78143724 | | | 16:g.78143724T>C | ClinGen:CA8183092 | CN169374 not specified; | |
NM_016373.4(WWOX):c.228T>C (p.Val76=) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 370579498 | RCV000650217|RCV001335817; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835 | 16 | 78143730 | 78143730 | | | 16:g.78143730T>C | ClinGen:CA8183093 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.228T>A (p.Val76=) | 51741 | WWOX | Likely benign | 370579498 | RCV001910848; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78143730 | 78143730 | | | 78143730 | - | | |
NM_016373.4(WWOX):c.230A>G (p.Asp77Gly) | 51741 | WWOX | Uncertain significance | 2032385595 | RCV001960872; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143732 | 78143732 | | | 78143732 | - | | |
NM_016373.4(WWOX):c.230+3A>T | 51741 | WWOX | Uncertain significance | 746149234 | RCV001993936; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78143735 | 78143735 | | | 78143735 | - | | |
NM_016373.4(WWOX):c.230+6T>C | 51741 | WWOX | Uncertain significance | -1 | RCV002922356; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78143738 | 78143738 | | | NC_000016.9:g.78143738T>C | - | | |
NM_016373.4(WWOX):c.230+9C>T | 51741 | WWOX | Likely benign | 1254974575 | RCV001468260; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78143741 | 78143741 | | | 78143741 | - | | |
NC_000016.9:g.(?_78148853)_(78149071_?)del | 51741 | WWOX | Pathogenic | -1 | RCV003119739; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148853 | 78149071 | | | | - | | |
NC_000016.9:g.(?_78148853)_(78198206_?)del | 51741 | WWOX | Pathogenic | -1 | RCV003119740; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148853 | 78198206 | | | | - | | |
NM_016373.4(WWOX):c.231-18G>T | 51741 | WWOX | Likely benign | -1 | RCV002611740; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148855 | 78148855 | | | NC_000016.9:g.78148855G>T | - | | |
NM_016373.4(WWOX):c.231-17C>A | 51741 | WWOX | Likely benign | 372361154 | RCV000443186|RCV000514717|RCV002059855; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148856 | 78148856 | | | 16:g.78148856C>A | ClinGen:CA8183118 | CN517202 not provided; | |
NM_016373.4(WWOX):c.231-16T>C | 51741 | WWOX | Likely benign | 376333974 | RCV002107303; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148857 | 78148857 | | | 78148857 | - | | |
NM_016373.4(WWOX):c.231-11C>G | 51741 | WWOX | Likely benign | 372011945 | RCV000605184|RCV002065388; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148862 | 78148862 | | | 16:g.78148862C>G | ClinGen:CA8183122 | CN169374 not specified; | |
NM_016373.4(WWOX):c.231-9T>C | 51741 | WWOX | Likely benign | 766689304 | RCV001476780; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148864 | 78148864 | | | 78148864 | - | | |
NM_016373.4(WWOX):c.231-8T>G | 51741 | WWOX | Likely benign | 776271651 | RCV000981850; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148865 | 78148865 | | | 16:g.78148865T>G | - | | |
NM_016373.4(WWOX):c.231-6G>T | 51741 | WWOX | Likely benign | 987981847 | RCV001416533; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148867 | 78148867 | | | 78148867 | - | | |
NM_016373.4(WWOX):c.231-5G>A | 51741 | WWOX | Uncertain significance | -1 | RCV003058183; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148868 | 78148868 | | | NC_000016.9:g.78148868G>A | - | | |
NM_016373.4(WWOX):c.233A>G (p.His78Arg) | 51741 | WWOX | Uncertain significance | 375002918 | RCV001314008; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148875 | 78148875 | | | 78148875 | - | | |
NM_016373.4(WWOX):c.248C>T (p.Thr83Ile) | 51741 | WWOX | Uncertain significance | 751493396 | RCV000810787; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148890 | 78148890 | | | 16:g.78148890C>T | - | | |
NM_016373.4(WWOX):c.251C>G (p.Thr84Ser) | 51741 | WWOX | Uncertain significance | 757145186 | RCV000489268|RCV000650199; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148893 | 78148893 | | | 16:g.78148893C>G | ClinGen:CA8183131 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.253T>G (p.Tyr85Asp) | 51741 | WWOX | Uncertain significance | 781063964 | RCV001374566|RCV001751527|RCV002541577; | N | MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148895 | 78148895 | | | 78148895 | - | | |
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter) | 51741 | WWOX | Pathogenic | 990150249 | RCV000487411|RCV001221428; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148897 | 78148897 | | | NC_000016.9:g.78148897C>G | ClinGen:CA16620273 | | |
NM_016373.4(WWOX):c.261C>G (p.Asp87Glu) | 51741 | WWOX | Uncertain significance | 368902462 | RCV001990051; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148903 | 78148903 | | | 78148903 | - | | |
NM_016373.4(WWOX):c.261C>T (p.Asp87=) | 51741 | WWOX | Likely benign | -1 | RCV002635277; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148903 | 78148903 | | | | - | | |
NM_016373.4(WWOX):c.262C>A (p.Pro88Thr) | 51741 | WWOX | Uncertain significance | -1 | RCV002922678; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148904 | 78148904 | | | NC_000016.9:g.78148904C>A | - | | |
NM_016373.4(WWOX):c.263C>G (p.Pro88Arg) | 51741 | WWOX | Uncertain significance | 200371768 | RCV001870939; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148905 | 78148905 | | | 78148905 | - | | |
NM_016373.4(WWOX):c.266G>A (p.Arg89Lys) | 51741 | WWOX | Uncertain significance | 2151674621 | RCV002013108; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148908 | 78148908 | | | 78148908 | - | | |
NM_016373.4(WWOX):c.272C>T (p.Ala91Val) | 51741 | WWOX | Uncertain significance | -1 | RCV002751520; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148914 | 78148914 | | | NC_000016.9:g.78148914C>T | - | | |
NM_016373.4(WWOX):c.273G>A (p.Ala91=) | 51741 | WWOX | Likely benign | 778288592 | RCV000966563; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148915 | 78148915 | | | 16:g.78148915G>A | - | | |
NM_016373.4(WWOX):c.276T>C (p.Phe92=) | 51741 | WWOX | Likely benign | -1 | RCV002871207; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148918 | 78148918 | | | | - | | |
NM_016373.4(WWOX):c.282G>A (p.Val94=) | 51741 | WWOX | Uncertain significance | 771301969 | RCV001930718; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148924 | 78148924 | | | 78148924 | - | | |
NC_000016.9:g.(?_78148926)_(78166880_?)del | 51741 | WWOX | Likely pathogenic | -1 | RCV002031050; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148926 | 78166880 | | | -1 | - | | |
NM_016373.4(WWOX):c.286G>A (p.Asp96Asn) | 51741 | WWOX | Uncertain significance | 1461547362 | RCV001307270; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148928 | 78148928 | | | 78148928 | - | | |
NM_016373.4(WWOX):c.287A>G (p.Asp96Gly) | 51741 | WWOX | Uncertain significance | 776969977 | RCV000996345|RCV001359029; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148929 | 78148929 | | | 16:g.78148929A>G | - | | |
NM_016373.4(WWOX):c.287A>T (p.Asp96Val) | 51741 | WWOX | Uncertain significance | 776969977 | RCV001878967; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148929 | 78148929 | | | 78148929 | - | | |
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu) | 51741 | WWOX | Benign | 144601717 | RCV000231056|RCV000248929|RCV000710288|RCV002243912|RCV002243913; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162 | 16 | 78148935 | 78148935 | | | 16:g.78148935C>T | ClinGen:CA8183142,UniProtKB:Q9NZC7#VAR_023916 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.294G>C (p.Pro98=) | 51741 | WWOX | Likely benign | 200208343 | RCV000650213; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148936 | 78148936 | | | 16:g.78148936G>C | ClinGen:CA8183143 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.294G>A (p.Pro98=) | 51741 | WWOX | Likely benign | -1 | RCV002833780; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148936 | 78148936 | | | | - | | |
NM_016373.4(WWOX):c.301C>G (p.Pro101Ala) | 51741 | WWOX | Uncertain significance | 574637594 | RCV000805431|RCV003225127; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78148943 | 78148943 | | | 16:g.78148943C>G | - | | |
NM_016373.4(WWOX):c.301C>T (p.Pro101Ser) | 51741 | WWOX | Uncertain significance | 574637594 | RCV001057539; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148943 | 78148943 | | | 16:g.78148943C>T | - | | |
NM_016373.4(WWOX):c.303A>G (p.Pro101=) | 51741 | WWOX | Likely benign | 761783544 | RCV002172210; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148945 | 78148945 | | | 78148945 | - | | |
NM_016373.4(WWOX):c.305C>T (p.Thr102Ile) | 51741 | WWOX | Uncertain significance | 2032705453 | RCV001306130; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148947 | 78148947 | | | 78148947 | - | | |
NM_016373.4(WWOX):c.310C>T (p.Arg104Trp) | 51741 | WWOX | Uncertain significance | 750226191 | RCV000545689|RCV001755886; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78148952 | 78148952 | | | 16:g.78148952C>T | ClinGen:CA8183151 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.310C>A (p.Arg104=) | 51741 | WWOX | Likely benign | 750226191 | RCV000904772|RCV001475063; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148952 | 78148952 | | | 16:g.78148952C>A | - | | |
NM_016373.4(WWOX):c.311G>A (p.Arg104Gln) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 199625891 | RCV001247071|RCV002568673; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 78148953 | 78148953 | | | 16:g.78148953G>A | - | | |
NM_016373.4(WWOX):c.315A>G (p.Gln105=) | 51741 | WWOX | Likely benign | 752822745 | RCV001059587|RCV001697432; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 78148957 | 78148957 | | | 16:g.78148957A>G | ClinGen:CA8183153 | CN169374 not specified; | |
NM_016373.4(WWOX):c.319T>G (p.Tyr107Asp) | 51741 | WWOX | Uncertain significance | 2151674746 | RCV001888671; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148961 | 78148961 | | | 78148961 | - | | |
NM_016373.4(WWOX):c.321C>T (p.Tyr107=) | 51741 | WWOX | Likely benign | 373306276 | RCV000560369; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148963 | 78148963 | | | NC_000016.9:g.78148963C>T | ClinGen:CA8183154 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter) | 51741 | WWOX | Pathogenic | 373306276 | RCV001384684; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148963 | 78148963 | | | 78148963 | - | | |
NM_016373.4(WWOX):c.322G>A (p.Asp108Asn) | 51741 | WWOX | Uncertain significance | 747575799 | RCV000498814|RCV001865564|RCV002527142; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 78148964 | 78148964 | | | NC_000016.9:g.78148964G>A | ClinGen:CA8183156 | | |
NM_016373.4(WWOX):c.324C>T (p.Asp108=) | 51741 | WWOX | Likely benign | 377442022 | RCV000534719|RCV001721394; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78148966 | 78148966 | | | 16:g.78148966C>T | ClinGen:CA8183158 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.324C>A (p.Asp108Glu) | 51741 | WWOX | Uncertain significance | 377442022 | RCV001984657; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148966 | 78148966 | | | 78148966 | - | | |
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser) | 51741 | WWOX | Uncertain significance | 770001837 | RCV001330729|RCV001859279; | N | MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148967 | 78148967 | | | 78148967 | - | | |
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 114755364 | RCV000544935|RCV001291668|RCV001697771; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MedGen:C3661900 | 16 | 78148974 | 78148974 | | | 16:g.78148974C>G | ClinGen:CA8183162 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.332C>T (p.Thr111Ile) | 51741 | WWOX | Uncertain significance | 114755364 | RCV001313355; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148974 | 78148974 | | | 78148974 | - | | |
NM_016373.4(WWOX):c.333del (p.Thr112fs) | 51741 | WWOX | Pathogenic | 2151674791 | RCV002007496; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78148974 | 78148974 | | | 78148973 | - | | |
NM_016373.4(WWOX):c.340A>G (p.Met114Val) | 51741 | WWOX | Uncertain significance | 1402250109 | RCV000802659; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148982 | 78148982 | | | 16:g.78148982A>G | - | | |
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) | 51741 | WWOX | Uncertain significance | 761906386 | RCV000658343|RCV000696611|RCV000764077; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:9997 | 16 | 78148983 | 78148983 | | | 16:g.78148983T>C | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.349C>A (p.Leu117Ile) | 51741 | WWOX | Uncertain significance | 1397160477 | RCV000823840; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148991 | 78148991 | | | 16:g.78148991C>A | - | | |
NM_016373.4(WWOX):c.351C>G (p.Leu117=) | 51741 | WWOX | Benign | 34944716 | RCV000420306|RCV000714208|RCV001082190|RCV002243914|RCV002243915; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162 | 16 | 78148993 | 78148993 | | | NC_000016.9:g.78148993C>G | ClinGen:CA8183167 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.353A>G (p.Gln118Arg) | 51741 | WWOX | Uncertain significance | 752982374 | RCV001866629; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78148995 | 78148995 | | | 78148995 | - | | |
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) | 51741 | WWOX | Benign/Likely benign | 141361080 | RCV000203040|RCV000433686|RCV001085443|RCV002243884|RCV002243885; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162 | 16 | 78149000 | 78149000 | | | 16:g.78149000C>T | ClinGen:CA249245,UniProtKB:Q9NZC7#VAR_023918 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.359G>A (p.Arg120Gln) | 51741 | WWOX | Uncertain significance | 1355355411 | RCV002009791; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149001 | 78149001 | | | 78149001 | - | | |
NM_016373.4(WWOX):c.362A>G (p.Asp121Gly) | 51741 | WWOX | Uncertain significance | 576113059 | RCV000687332; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149004 | 78149004 | | | 16:g.78149004A>G | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.368C>T (p.Thr123Ile) | 51741 | WWOX | Uncertain significance | 2151674876 | RCV001898153; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78149010 | 78149010 | | | 78149010 | - | | |
NM_016373.4(WWOX):c.372C>A (p.Gly124=) | 51741 | WWOX | Likely benign | 1427515892 | RCV000942188; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149014 | 78149014 | | | 16:g.78149014C>A | - | | |
NM_016373.4(WWOX):c.376G>C (p.Val126Leu) | 51741 | WWOX | Uncertain significance | 2151674893 | RCV001890730; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78149018 | 78149018 | | | 78149018 | - | | |
NM_016373.4(WWOX):c.379G>A (p.Val127Ile) | 51741 | WWOX | Uncertain significance | 1183597678 | RCV001373399; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78149021 | 78149021 | | | 78149021 | - | | |
NM_016373.4(WWOX):c.385G>C (p.Val129Leu) | 51741 | WWOX | Uncertain significance | 781732002 | RCV000559593; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149027 | 78149027 | | | NC_000016.9:g.78149027G>C | ClinGen:CA396842594 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.389C>G (p.Thr130Ser) | 51741 | WWOX | Uncertain significance | -1 | RCV002838144; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149031 | 78149031 | | | NC_000016.9:g.78149031C>G | - | | |
NM_016373.4(WWOX):c.391G>A (p.Gly131Arg) | 51741 | WWOX | Uncertain significance | 2151674915 | RCV001920092; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78149033 | 78149033 | | | 78149033 | - | | |
NM_016373.4(WWOX):c.397A>T (p.Asn133Tyr) | 51741 | WWOX | Uncertain significance | -1 | RCV002828536; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149039 | 78149039 | | | NC_000016.9:g.78149039A>T | - | | |
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 193027041 | RCV000537303|RCV001330929|RCV001507346; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MedGen:C3661900 | 16 | 78149048 | 78149048 | | | NC_000016.9:g.78149048A>G | ClinGen:CA8183177 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.408A>G (p.Ile136Met) | 51741 | WWOX | Uncertain significance | -1 | RCV003057380; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149050 | 78149050 | | | NC_000016.9:g.78149050A>G | - | | |
NM_016373.4(WWOX):c.409+1G>C | 51741 | WWOX | Pathogenic/Likely pathogenic | 1060502727 | RCV000458905|RCV001796062; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835 | 16 | 78149052 | 78149052 | | | NC_000016.9:g.78149052G>C | ClinGen:CA16614998 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.409+4G>A | 51741 | WWOX | Uncertain significance | 2032715333 | RCV001052587; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78149055 | 78149055 | | | 16:g.78149055G>A | - | | |
NM_016373.4(WWOX):c.409+5G>A | 51741 | WWOX | Uncertain significance | 1305123836 | RCV001935993; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149056 | 78149056 | | | 78149056 | - | | |
NM_016373.4(WWOX):c.409+6C>G | 51741 | WWOX | Uncertain significance | 780224603 | RCV001910829; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78149057 | 78149057 | | | 78149057 | - | | |
NM_016373.4(WWOX):c.409+6C>T | 51741 | WWOX | Uncertain significance | -1 | RCV002720824; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149057 | 78149057 | | | NC_000016.9:g.78149057C>T | - | | |
NM_016373.4(WWOX):c.409+10T>C | 51741 | WWOX | Likely benign | 2151674977 | RCV001496108; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78149061 | 78149061 | | | 78149061 | - | | |
NM_016373.4(WWOX):c.409+16A>C | 51741 | WWOX | Benign | 12934985 | RCV000243843|RCV001510046|RCV002244639|RCV002244638; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:2842 | 16 | 78149067 | 78149067 | | | 16:g.78149067A>C | ClinGen:CA8183181 | CN169374 not specified; | |
NM_016373.4(WWOX):c.409+16A>T | 51741 | WWOX | Likely benign | 12934985 | RCV000420187|RCV002065076; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149067 | 78149067 | | | 16:g.78149067A>T | ClinGen:CA8183182 | CN169374 not specified; | |
NM_016373.4(WWOX):c.409+16_409+17delinsCA | 51741 | WWOX | Likely benign | 2151674999 | RCV002073459; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78149067 | 78149068 | | | 78149067 | - | | |
NM_016373.4(WWOX):c.409+16A>G | 51741 | WWOX | Likely benign | 12934985 | RCV002116349; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78149067 | 78149067 | | | 78149067 | - | | |
NM_016373.4(WWOX):c.409+17G>T | 51741 | WWOX | Likely benign | 771445250 | RCV002174545; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78149068 | 78149068 | | | 78149068 | - | | |
NC_000016.10:g.(?_78164163)_(78164309_?)del | 51741 | WWOX | Pathogenic | -1 | RCV000708352; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198060 | 78198206 | | | | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.410-19A>G | 51741 | WWOX | Likely benign | 201778955 | RCV002153379; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198061 | 78198061 | | | 78198061 | - | | |
NM_016373.4(WWOX):c.410-14C>T | 51741 | WWOX | Likely benign | -1 | RCV002881164; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198066 | 78198066 | | | NC_000016.9:g.78198066C>T | - | | |
NM_016373.4(WWOX):c.410-6C>T | 51741 | WWOX | Likely benign | 1488901499 | RCV000547497; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198074 | 78198074 | | | NC_000016.9:g.78198074C>T | ClinGen:CA623617844 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.410-6C>G | 51741 | WWOX | Uncertain significance | 1488901499 | RCV001983110; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198074 | 78198074 | | | 78198074 | - | | |
NM_016373.4(WWOX):c.410-4A>T | 51741 | WWOX | Benign | 183410581 | RCV001515616; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198076 | 78198076 | | | NC_000016.9:g.78198076A>T | ClinGen:CA8183206 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.410-4A>G | 51741 | WWOX | Likely benign | 183410581 | RCV001867717; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198076 | 78198076 | | | 78198076 | - | | |
NM_016373.4(WWOX):c.410-3T>C | 51741 | WWOX | Conflicting interpretations of pathogenicity | 201178351 | RCV000433960|RCV000796343; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198077 | 78198077 | | | NC_000016.9:g.78198077T>C | ClinGen:CA8183207 | CN169374 not specified; | |
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 761879076 | RCV000512753|RCV000525795|RCV002509417; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835 | 16 | 78198080 | 78198080 | | | 16:g.78198080G>A | ClinGen:CA8183208 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.410G>C (p.Gly137Ala) | 51741 | WWOX | Uncertain significance | 761879076 | RCV001229901; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198080 | 78198080 | | | 16:g.78198080G>C | - | | |
NM_016373.4(WWOX):c.411G>T (p.Gly137=) | 51741 | WWOX | Likely benign | 1172090882 | RCV002117028|RCV003426319; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 78198081 | 78198081 | | | 78198081 | - | | |
NM_016373.4(WWOX):c.414C>T (p.Phe138=) | 51741 | WWOX | Likely benign | 767693780 | RCV000442819|RCV001479925; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198084 | 78198084 | | | 16:g.78198084C>T | ClinGen:CA8183209 | CN169374 not specified; | |
NM_016373.4(WWOX):c.415G>C (p.Glu139Gln) | 51741 | WWOX | Uncertain significance | 764089824 | RCV001302863; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198085 | 78198085 | | | 78198085 | - | | |
NM_016373.4(WWOX):c.419C>A (p.Thr140Asn) | 51741 | WWOX | Uncertain significance | 750464034 | RCV001313283; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198089 | 78198089 | | | 78198089 | - | | |
NM_016373.4(WWOX):c.420C>T (p.Thr140=) | 51741 | WWOX | Likely benign | 374644172 | RCV001469186|RCV001547281; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78198090 | 78198090 | | | 78198090 | - | | |
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 369907002 | RCV000493095|RCV001080385; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198091 | 78198091 | | | NC_000016.9:g.78198091G>A | ClinGen:CA8183213 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.422C>T (p.Ala141Val) | 51741 | WWOX | Uncertain significance | 990349398 | RCV002024434; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198092 | 78198092 | | | 78198092 | - | | |
NM_016373.4(WWOX):c.423C>G (p.Ala141=) | 51741 | WWOX | Likely benign | -1 | RCV002592126; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198093 | 78198093 | | | | - | | |
NM_016373.4(WWOX):c.439C>T (p.His147Tyr) | 51741 | WWOX | Uncertain significance | 746480783 | RCV001171778|RCV001363796; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198109 | 78198109 | | | 16:g.78198109C>T | - | | |
NM_016373.4(WWOX):c.440A>G (p.His147Arg) | 51741 | WWOX | Uncertain significance | 188859796 | RCV000472179|RCV003168819; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 78198110 | 78198110 | | | NC_000016.9:g.78198110A>G | ClinGen:CA8183220 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.440A>C (p.His147Pro) | 51741 | WWOX | Uncertain significance | 188859796 | RCV001894383; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198110 | 78198110 | | | 78198110 | - | | |
NM_016373.4(WWOX):c.443G>C (p.Gly148Ala) | 51741 | WWOX | Uncertain significance | 372660669 | RCV000685513|RCV003343988; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | 16 | 78198113 | 78198113 | | | NC_000016.9:g.78198113G>C | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.445G>A (p.Ala149Thr) | 51741 | WWOX | Uncertain significance | 200820063 | RCV000701811|RCV003165875; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 78198115 | 78198115 | | | NC_000016.9:g.78198115G>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.446C>G (p.Ala149Gly) | 51741 | WWOX | Uncertain significance | 1024835941 | RCV001222657; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198116 | 78198116 | | | 16:g.78198116C>G | - | | |
NM_016373.4(WWOX):c.446C>T (p.Ala149Val) | 51741 | WWOX | Uncertain significance | 1024835941 | RCV001321900; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198116 | 78198116 | | | 78198116 | - | | |
NM_016373.4(WWOX):c.449A>T (p.His150Leu) | 51741 | WWOX | Uncertain significance | -1 | RCV002962718; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198119 | 78198119 | | | NC_000016.9:g.78198119A>T | - | | |
NM_016373.4(WWOX):c.453G>A (p.Val151=) | 51741 | WWOX | Likely benign | 375649496 | RCV001467509; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198123 | 78198123 | | | 78198123 | - | | |
NM_016373.4(WWOX):c.454A>G (p.Ile152Val) | 51741 | WWOX | Uncertain significance | 961514796 | RCV001341943|RCV001762571; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78198124 | 78198124 | | | 78198124 | - | | |
NM_016373.4(WWOX):c.462C>T (p.Ala154=) | 51741 | WWOX | Likely benign | 1167825014 | RCV001419672; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198132 | 78198132 | | | 78198132 | - | | |
NM_016373.4(WWOX):c.462C>G (p.Ala154=) | 51741 | WWOX | Likely benign | 1167825014 | RCV002203996; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198132 | 78198132 | | | 78198132 | - | | |
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) | 51741 | WWOX | Benign/Likely benign | 140817689 | RCV000480602|RCV001081708|RCV002244944|RCV002244945; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78198138 | 78198138 | | | NC_000016.9:g.78198138G>T | ClinGen:CA8183226 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.480G>A (p.Arg160=) | 51741 | WWOX | Likely benign | 919851150 | RCV000869977; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198150 | 78198150 | | | 16:g.78198150G>A | - | | |
NM_016373.4(WWOX):c.481G>A (p.Ala161Thr) | 51741 | WWOX | Uncertain significance | 779724017 | RCV000703157; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198151 | 78198151 | | | 16:g.78198151G>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.482C>T (p.Ala161Val) | 51741 | WWOX | Uncertain significance | 369055872 | RCV000696468|RCV001556445; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 78198152 | 78198152 | | | NC_000016.9:g.78198152C>T | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.483G>A (p.Ala161=) | 51741 | WWOX | Likely benign | 143067173 | RCV001412151; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198153 | 78198153 | | | 78198153 | - | | |
NM_016373.4(WWOX):c.490G>A (p.Ala164Thr) | 51741 | WWOX | Uncertain significance | 2034896161 | RCV001218338; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198160 | 78198160 | | | 16:g.78198160G>A | - | | |
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys) | 51741 | WWOX | Uncertain significance | 201228765 | RCV000498364|RCV000699068|RCV001809451|RCV002524085; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MeSH:D030342,MedGen:C0950123 | 16 | 78198169 | 78198169 | | | 16:g.78198169C>T | ClinGen:CA8183230 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.500G>A (p.Arg167His) | 51741 | WWOX | Uncertain significance | 377356629 | RCV001892604|RCV002471178; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835 | 16 | 78198170 | 78198170 | | | 78198170 | - | | |
NM_016373.4(WWOX):c.508G>A (p.Glu170Lys) | 51741 | WWOX | Uncertain significance | 758121265 | RCV001227931; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198178 | 78198178 | | | 16:g.78198178G>A | - | | |
NM_016373.4(WWOX):c.513A>G (p.Glu171=) | 51741 | WWOX | Uncertain significance | 1060502728 | RCV000468545; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198183 | 78198183 | | | NC_000016.9:g.78198183A>G | ClinGen:CA16615427 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.516+3A>G | 51741 | WWOX | Uncertain significance | 200058019 | RCV001040721; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198189 | 78198189 | | | 16:g.78198189A>G | - | | |
NM_016373.4(WWOX):c.516+6T>C | 51741 | WWOX | Benign | 2303191 | RCV000248806|RCV000714209|RCV001510047|RCV002244641|RCV002244640; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:6143 | 16 | 78198192 | 78198192 | | | NC_000016.9:g.78198192T>C | ClinGen:CA8183239 | CN169374 not specified; | |
NM_016373.4(WWOX):c.516+6_516+7inv | 51741 | WWOX | Uncertain significance | -1 | RCV001324934; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78198192 | 78198193 | | | 78198192 | - | | |
NM_016373.4(WWOX):c.516+6_516+7delinsCT | 51741 | WWOX | Likely benign | 2151735603 | RCV001500923; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198192 | 78198193 | | | 78198192 | - | | |
NM_016373.4(WWOX):c.516+14TGT[2] | 51741 | WWOX | Likely benign | 757933432 | RCV002078282; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198200 | 78198202 | | | 78198199 | - | | |
NM_016373.4(WWOX):c.516+14T>A | 51741 | WWOX | Likely benign | 779863445 | RCV002075097; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198200 | 78198200 | | | 78198200 | - | | |
NM_016373.4(WWOX):c.516+19T>A | 51741 | WWOX | Likely benign | 2034899735 | RCV002073737; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78198205 | 78198205 | | | 78198205 | - | | |
NC_000016.9:g.(?_78312480)_(78466669_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV000707796; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78312480 | 78466669 | | | | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NC_000016.9:g.(?_78312480)_(78658393_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV000819890; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78312480 | 78658393 | | | | - | | |
NC_000016.10:g.(?_78278583)_(78386968_?)del | 51741 | WWOX | Pathogenic | -1 | RCV001033621; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78312480 | 78420865 | | | -1 | - | | |
NC_000016.10:g.(?_78278583)_(78432772_?)del | 51741 | WWOX | Likely pathogenic | -1 | RCV001032593; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78312480 | 78466669 | | | -1 | - | | |
NM_016373.4(WWOX):c.517-108230A>G | 51741 | WWOX | Benign/Likely benign | 77067228 | RCV000615318|RCV001510048|RCV001637099; | N | MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78312527 | 78312527 | | | NC_000016.9:g.78312527A>G | ClinGen:CA8183281 | C0546837 133239 Malignant tumor of esophagus; | |
NC_000016.9:g.(?_78352643)_(78420837_?)dup | 51741 | WWOX | Pathogenic | -1 | RCV000550477; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78352643 | 78420837 | | | -1 | - | | |
NC_000016.10:g.(?_78386840)_(78386968_?)del | 51741 | WWOX | Pathogenic | -1 | RCV000707918; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420737 | 78420865 | | | | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NC_000016.10:g.(?_78386840)_(78432772_?)del | 51741 | WWOX | Pathogenic | -1 | RCV000708455; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420737 | 78466669 | | | | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NC_000016.10:g.(?_78386840)_(78432772_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV001031873; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420737 | 78466669 | | | -1 | - | | |
NC_000016.10:g.(?_78386840)_(78624496_?)dup | 51741 | WWOX | Uncertain significance | -1 | RCV001033412; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420737 | 78658393 | | | -1 | - | | |
NM_016373.4(WWOX):c.517-20T>C | 51741 | WWOX | Likely benign | 2151934070 | RCV002079885; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420737 | 78420737 | | | 78420737 | - | | |
NC_000016.9:g.(?_78420737)_(78458972_?)del | 51741 | WWOX | Pathogenic | -1 | RCV003119742; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420737 | 78458972 | | | | - | | |
NM_016373.4(WWOX):c.517-19T>C | 51741 | WWOX | Likely benign | 1057518552 | RCV000414481|RCV002521436; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420738 | 78420738 | | | 16:g.78420738T>C | ClinGen:CA16043091 | CN169374 not specified; | |
NM_016373.4(WWOX):c.517-17A>G | 51741 | WWOX | Benign/Likely benign | 79423401 | RCV000429744|RCV002062776|RCV002244907|RCV002244908; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78420740 | 78420740 | | | 16:g.78420740A>G | ClinGen:CA8183312 | CN169374 not specified; | |
NM_016373.4(WWOX):c.517-12C>T | 51741 | WWOX | Likely benign | 373188700 | RCV001722662|RCV002063211; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420745 | 78420745 | | | 16:g.78420745C>T | ClinGen:CA8183313 | CN169374 not specified; | |
NM_016373.4(WWOX):c.517-12C>A | 51741 | WWOX | Likely benign | 373188700 | RCV000827511|RCV002067458; | N | MedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420745 | 78420745 | | | 16:g.78420745C>A | - | | |
NM_016373.4(WWOX):c.517-11T>C | 51741 | WWOX | Likely benign | 2151934076 | RCV002196886; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420746 | 78420746 | | | 78420746 | - | | |
NM_016373.4(WWOX):c.517-10C>G | 51741 | WWOX | Likely benign | 199820033 | RCV000438940|RCV000535945; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420747 | 78420747 | | | 16:g.78420747C>G | ClinGen:CA8183314 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NC_000016.9:g.(?_78420747)_(78458962_?)del | 51741 | WWOX | Pathogenic | -1 | RCV001390384; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420747 | 78458962 | | | -1 | - | | |
NC_000016.9:g.(?_78420747)_(78466659_?)del | 51741 | WWOX | Pathogenic | -1 | RCV001390385; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420747 | 78466659 | | | -1 | - | | |
NM_016373.4(WWOX):c.517-9T>C | 51741 | WWOX | Likely benign | -1 | RCV003020827; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420748 | 78420748 | | | NC_000016.9:g.78420748T>C | - | | |
NM_016373.4(WWOX):c.517-8C>T | 51741 | WWOX | Likely benign | -1 | RCV002627759; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420749 | 78420749 | | | NC_000016.9:g.78420749C>T | - | | |
NM_016373.4(WWOX):c.517-1G>T | 51741 | WWOX | Pathogenic | 867163041 | RCV001958834; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420756 | 78420756 | | | 78420756 | - | | |
NM_016373.4(WWOX):c.518A>G (p.His173Arg) | 51741 | WWOX | Uncertain significance | 770595933 | RCV001889422; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420758 | 78420758 | | | 78420758 | - | | |
NM_016373.4(WWOX):c.520A>G (p.Lys174Glu) | 51741 | WWOX | Uncertain significance | 766451936 | RCV001340154; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420760 | 78420760 | | | 78420760 | - | | |
NM_016373.4(WWOX):c.525C>G (p.Ala175=) | 51741 | WWOX | Benign | -1 | RCV003046319; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420765 | 78420765 | | | | - | | |
NM_016373.4(WWOX):c.530T>C (p.Val177Ala) | 51741 | WWOX | Uncertain significance | 2151934103 | RCV001910324; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420770 | 78420770 | | | 78420770 | - | | |
NM_016373.4(WWOX):c.531A>G (p.Val177=) | 51741 | WWOX | Likely benign | 1451196383 | RCV001405809; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420771 | 78420771 | | | 78420771 | - | | |
NM_016373.4(WWOX):c.533A>G (p.Glu178Gly) | 51741 | WWOX | Uncertain significance | 764588235 | RCV001898241; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420773 | 78420773 | | | 78420773 | - | | |
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) | 51741 | WWOX | Benign | 11545029 | RCV000253370|RCV000714211|RCV000989640|RCV001510592|RCV002244642|RCV002244643|RCV002500910; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:2842 | 16 | 78420775 | 78420775 | | | 16:g.78420775G>A | ClinGen:CA8183321,UniProtKB:Q9NZC7#VAR_023919 | CN169374 not specified; | |
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 11545029 | RCV000524996|RCV002483483|RCV001726237; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:0 | 16 | 78420775 | 78420775 | | | NC_000016.9:g.78420775G>T | ClinGen:CA8183322 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.535G>C (p.Ala179Pro) | 51741 | WWOX | Uncertain significance | 11545029 | RCV002051448; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420775 | 78420775 | | | 78420775 | - | | |
NM_016373.4(WWOX):c.538A>G (p.Met180Val) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 569297468 | RCV001091761|RCV001212923; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420778 | 78420778 | | | 16:g.78420778A>G | - | | |
NM_016373.4(WWOX):c.542C>T (p.Thr181Ile) | 51741 | WWOX | Benign | 756339242 | RCV001369076; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420782 | 78420782 | | | 78420782 | - | | |
NM_016373.4(WWOX):c.543C>G (p.Thr181=) | 51741 | WWOX | Likely benign | -1 | RCV002576570; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420783 | 78420783 | | | | - | | |
NM_016373.4(WWOX):c.544C>G (p.Leu182Val) | 51741 | WWOX | Benign | -1 | RCV003081870; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420784 | 78420784 | | | NC_000016.9:g.78420784C>G | - | | |
NM_016373.4(WWOX):c.545T>C (p.Leu182Pro) | 51741 | WWOX | Uncertain significance | 2082072058 | RCV001070350; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420785 | 78420785 | | | 16:g.78420785T>C | - | | |
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn) | 51741 | WWOX | Benign | 74944733 | RCV000245360|RCV000462619|RCV002244644|RCV002244645; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78420787 | 78420787 | | | NC_000016.9:g.78420787G>A | ClinGen:CA8183327 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.550C>T (p.Leu184Phe) | 51741 | WWOX | Uncertain significance | 753965511 | RCV001049767; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420790 | 78420790 | | | 16:g.78420790C>T | - | | |
NM_016373.4(WWOX):c.552dup (p.Ala185fs) | 51741 | WWOX | Pathogenic | -1 | RCV003021516; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420791 | 78420792 | | | NC_000016.9:g.78420792dup | - | | |
NM_016373.4(WWOX):c.552C>T (p.Leu184=) | 51741 | WWOX | Likely benign | 199715254 | RCV000539722|RCV001704419|RCV003151055; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MedGen:CN169374 | 16 | 78420792 | 78420792 | | | 16:g.78420792C>T | ClinGen:CA8183330 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.552C>G (p.Leu184=) | 51741 | WWOX | Likely benign | 199715254 | RCV000934055; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420792 | 78420792 | | | 16:g.78420792C>G | - | | |
NM_016373.4(WWOX):c.553G>A (p.Ala185Thr) | 51741 | WWOX | Uncertain significance | 778951309 | RCV001902919; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420793 | 78420793 | | | 78420793 | - | | |
NM_016373.4(WWOX):c.554C>T (p.Ala185Val) | 51741 | WWOX | Uncertain significance | -1 | RCV002725390; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420794 | 78420794 | | | NC_000016.9:g.78420794C>T | - | | |
NM_016373.4(WWOX):c.555T>C (p.Ala185=) | 51741 | WWOX | Likely benign | 748722105 | RCV001474526; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420795 | 78420795 | | | 78420795 | - | | |
NM_016373.4(WWOX):c.555T>A (p.Ala185=) | 51741 | WWOX | Likely benign | 748722105 | RCV001484137; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420795 | 78420795 | | | 78420795 | - | | |
NM_016373.4(WWOX):c.556C>T (p.Leu186=) | 51741 | WWOX | Likely benign | 772539448 | RCV002064545; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420796 | 78420796 | | | 16:g.78420796C>T | - | | |
NM_016373.4(WWOX):c.556C>G (p.Leu186Val) | 51741 | WWOX | Uncertain significance | 772539448 | RCV001229924; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420796 | 78420796 | | | 16:g.78420796C>G | - | | |
NM_016373.4(WWOX):c.558G>A (p.Leu186=) | 51741 | WWOX | Likely benign | 1464156122 | RCV001406586; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420798 | 78420798 | | | 78420798 | - | | |
NM_016373.4(WWOX):c.560T>A (p.Leu187His) | 51741 | WWOX | Uncertain significance | 2151934150 | RCV002022899; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420800 | 78420800 | | | 78420800 | - | | |
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 199511589 | RCV000458450|RCV000764078|RCV001537501; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:00 | 16 | 78420802 | 78420802 | | | NC_000016.9:g.78420802C>A | ClinGen:CA8183335 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys) | 51741 | WWOX | Uncertain significance | 199511589 | RCV000650200|RCV001542401|RCV003162978|RCV003441997; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 16 | 78420802 | 78420802 | | | 16:g.78420802C>T | ClinGen:CA8183334 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.563G>A (p.Arg188His) | 51741 | WWOX | Uncertain significance | 771163284 | RCV001048357|RCV001759975; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202 | 16 | 78420803 | 78420803 | | | 16:g.78420803G>A | - | | |
NM_016373.4(WWOX):c.566G>A (p.Ser189Asn) | 51741 | WWOX | Uncertain significance | 776354746 | RCV000519802|RCV002525241|RCV002525242; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 78420806 | 78420806 | | | NC_000016.9:g.78420806G>A | ClinGen:CA8183337 | | |
NM_016373.4(WWOX):c.567C>T (p.Ser189=) | 51741 | WWOX | Likely benign | 201593515 | RCV001532283|RCV002071906; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420807 | 78420807 | | | 78420807 | - | | |
NM_016373.4(WWOX):c.568G>A (p.Val190Met) | 51741 | WWOX | Uncertain significance | 769400934 | RCV000554456|RCV002530205; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | 16 | 78420808 | 78420808 | | | NC_000016.9:g.78420808G>A | ClinGen:CA8183340 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.568G>T (p.Val190Leu) | 51741 | WWOX | Uncertain significance | 769400934 | RCV001296533; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420808 | 78420808 | | | 78420808 | - | | |
NM_016373.4(WWOX):c.568G>C (p.Val190Leu) | 51741 | WWOX | Uncertain significance | -1 | RCV002795588; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420808 | 78420808 | | | NC_000016.9:g.78420808G>C | - | | |
NM_016373.4(WWOX):c.579T>C (p.Phe193=) | 51741 | WWOX | Likely benign | 554077107 | RCV000964589|RCV000616087|RCV001418373; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420819 | 78420819 | | | 16:g.78420819T>C | ClinGen:CA8183343 | CN169374 not specified; | |
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter) | 51741 | WWOX | Pathogenic/Likely pathogenic | 1567542020 | RCV000688699|RCV000760719; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78420823 | 78420823 | | | NC_000016.9:g.78420823G>T | - | | |
NM_016373.4(WWOX):c.584A>C (p.Glu195Ala) | 51741 | WWOX | Uncertain significance | 2151934166 | RCV001952118; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420824 | 78420824 | | | 78420824 | - | | |
NM_016373.4(WWOX):c.586G>A (p.Ala196Thr) | 51741 | WWOX | Uncertain significance | 370367979 | RCV000650206; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420826 | 78420826 | | | 16:g.78420826G>A | ClinGen:CA8183345 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.587C>T (p.Ala196Val) | 51741 | WWOX | Uncertain significance | 754102799 | RCV000812243; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420827 | 78420827 | | | 16:g.78420827C>T | - | | |
NM_016373.4(WWOX):c.588A>G (p.Ala196=) | 51741 | WWOX | Likely benign | -1 | RCV002615370; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420828 | 78420828 | | | | - | | |
NM_016373.4(WWOX):c.588A>C (p.Ala196=) | 51741 | WWOX | Likely benign | -1 | RCV002856474; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420828 | 78420828 | | | | - | | |
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) | 51741 | WWOX | Uncertain significance | 200847456 | RCV000489581|RCV001341820|RCV002489193; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428 | 16 | 78420831 | 78420831 | | | NC_000016.9:g.78420831C>G | ClinGen:CA8183347 | | |
NM_016373.4(WWOX):c.592A>G (p.Lys198Glu) | 51741 | WWOX | Uncertain significance | 1199254958 | RCV001300128; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420832 | 78420832 | | | 78420832 | - | | |
NM_016373.4(WWOX):c.596C>G (p.Ala199Gly) | 51741 | WWOX | Uncertain significance | 890212192 | RCV000797084; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420836 | 78420836 | | | 16:g.78420836C>G | - | | |
NM_016373.4(WWOX):c.599A>G (p.Lys200Arg) | 51741 | WWOX | Uncertain significance | 1011606866 | RCV000705902|RCV002534448; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 78420839 | 78420839 | | | NC_000016.9:g.78420839A>G | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.605_605+3del | 51741 | WWOX | Likely pathogenic | 767732033 | RCV001378782|RCV002274194|RCV003223420; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835 | 16 | 78420843 | 78420846 | | | 78420842 | - | | |
NM_016373.4(WWOX):c.604G>A (p.Val202Met) | 51741 | WWOX | Uncertain significance | -1 | RCV003077962; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420844 | 78420844 | | | NC_000016.9:g.78420844G>A | - | | |
NM_016373.4(WWOX):c.605T>G (p.Val202Gly) | 51741 | WWOX | Uncertain significance | 112636835 | RCV000794349|RCV001816847|RCV001759496; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN169374|MedGen:CN517202 | 16 | 78420845 | 78420845 | | | 16:g.78420845T>G | - | | |
NM_016373.4(WWOX):c.605+1_605+2delinsAA | 51741 | WWOX | Likely pathogenic | 2151934194 | RCV001993945; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420846 | 78420847 | | | 78420846 | - | | |
NM_016373.4(WWOX):c.605+6_605+18del | 51741 | WWOX | Uncertain significance | 775621555 | RCV001366513; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420848 | 78420860 | | | 78420847 | - | | |
NM_016373.4(WWOX):c.605+5G>A | 51741 | WWOX | Conflicting interpretations of pathogenicity | 1039151413 | RCV000522383|RCV000703936|RCV000850619|RCV003152608; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78420850 | 78420850 | | | NC_000016.9:g.78420850G>A | ClinGen:CA623626138 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.605+7G>A | 51741 | WWOX | Likely benign | 900076277 | RCV002135348; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420852 | 78420852 | | | 78420852 | - | | |
NM_016373.4(WWOX):c.605+9T>A | 51741 | WWOX | Likely benign | 368853054 | RCV000435192|RCV000714213|RCV001083274; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420854 | 78420854 | | | 16:g.78420854T>A | ClinGen:CA8183352 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.605+10C>G | 51741 | WWOX | Likely benign | 201186695 | RCV000869200; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420855 | 78420855 | | | 16:g.78420855C>G | - | | |
NM_016373.4(WWOX):c.605+10C>A | 51741 | WWOX | Likely benign | 201186695 | RCV002065999; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420855 | 78420855 | | | 16:g.78420855C>A | - | | |
NM_016373.4(WWOX):c.605+11C>T | 51741 | WWOX | Likely benign | 1271857180 | RCV002113067; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420856 | 78420856 | | | 78420856 | - | | |
NM_016373.4(WWOX):c.605+12A>T | 51741 | WWOX | Likely benign | -1 | RCV002615587; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78420857 | 78420857 | | | NC_000016.9:g.78420857A>T | - | | |
NM_016373.4(WWOX):c.605+19G>A | 51741 | WWOX | Likely benign | 199843934 | RCV002156784; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420864 | 78420864 | | | 78420864 | - | | |
NM_016373.4(WWOX):c.605+20G>A | 51741 | WWOX | Likely benign | 372217196 | RCV002113454; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78420865 | 78420865 | | | 78420865 | - | | |
NC_000016.10:g.(?_78424850)_(78425075_?)del | 51741 | WWOX | Pathogenic | -1 | RCV000528181; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458747 | 78458972 | | | -1 | - | | |
NC_000016.9:g.(?_78458747)_(78466669_?)dup | 51741 | WWOX | Likely pathogenic | -1 | RCV000707889; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458747 | 78466669 | | | | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NC_000016.10:g.(?_78424850)_(78432772_?)del | 51741 | WWOX | Pathogenic | -1 | RCV001032711; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458747 | 78466669 | | | -1 | - | | |
NM_016373.4(WWOX):c.606-17G>A | 51741 | WWOX | Benign | 4130513 | RCV000248269|RCV001511254|RCV002244646|RCV002244647; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78458750 | 78458750 | | | 16:g.78458750G>A | ClinGen:CA8183380 | CN169374 not specified; | |
NM_016373.4(WWOX):c.606-16A>G | 51741 | WWOX | Uncertain significance | 139257288 | RCV001899489; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458751 | 78458751 | | | 78458751 | - | | |
NM_016373.4(WWOX):c.606-14A>G | 51741 | WWOX | Likely benign | -1 | RCV002594292; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458753 | 78458753 | | | NC_000016.9:g.78458753A>G | - | | |
NM_016373.4(WWOX):c.606-9A>G | 51741 | WWOX | Likely benign | 370129950 | RCV002098244; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458758 | 78458758 | | | 78458758 | - | | |
NM_016373.4(WWOX):c.606G>C (p.Val202=) | 51741 | WWOX | Uncertain significance | 1232120355 | RCV001061929; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458767 | 78458767 | | | 16:g.78458767G>C | - | | |
NM_016373.4(WWOX):c.610C>A (p.Leu204Ile) | 51741 | WWOX | Uncertain significance | 866341813 | RCV001214343; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458771 | 78458771 | | | 16:g.78458771C>A | - | | |
NM_016373.4(WWOX):c.613C>A (p.His205Asn) | 51741 | WWOX | Benign/Likely benign | 74860463 | RCV000253263|RCV000513720|RCV001086032|RCV002244648|RCV002244649; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162 | 16 | 78458774 | 78458774 | | | 16:g.78458774C>A | ClinGen:CA8183386 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.614A>G (p.His205Arg) | 51741 | WWOX | Uncertain significance | 770649734 | RCV001056798; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458775 | 78458775 | | | 16:g.78458775A>G | - | | |
NM_016373.4(WWOX):c.618G>C (p.Val206=) | 51741 | WWOX | Likely benign | 376279847 | RCV000869656|RCV001704477; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 78458779 | 78458779 | | | 16:g.78458779G>C | ClinGen:CA8183392 | CN169374 not specified; | |
NM_016373.4(WWOX):c.618G>A (p.Val206=) | 51741 | WWOX | Benign/Likely benign | 376279847 | RCV000650212|RCV001704379|RCV002244913|RCV002244914; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78458779 | 78458779 | | | 16:g.78458779G>A | ClinGen:CA8183391 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.624G>T (p.Val208=) | 51741 | WWOX | Likely benign | -1 | RCV002922886; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458785 | 78458785 | | | | - | | |
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser) | 51741 | WWOX | Uncertain significance | 767929766 | RCV000845066|RCV001359608; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458790 | 78458790 | | | 16:g.78458790A>G | - | | |
NM_016373.4(WWOX):c.630C>T (p.Asn210=) | 51741 | WWOX | Likely benign | 547619401 | RCV000864091|RCV003456441; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78458791 | 78458791 | | | 16:g.78458791C>T | - | | |
NM_016373.4(WWOX):c.631G>A (p.Ala211Thr) | 51741 | WWOX | Uncertain significance | 370737224 | RCV001310339|RCV001326400; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458792 | 78458792 | | | 78458792 | - | | |
NM_016373.4(WWOX):c.633A>G (p.Ala211=) | 51741 | WWOX | Likely benign | 1597215838 | RCV001483855; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458794 | 78458794 | | | 16:g.78458794A>G | - | | |
NM_016373.4(WWOX):c.635C>T (p.Ala212Val) | 51741 | WWOX | Uncertain significance | 202006159 | RCV000499666|RCV000706104; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458796 | 78458796 | | | 16:g.78458796C>T | ClinGen:CA8183397 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.636A>C (p.Ala212=) | 51741 | WWOX | Likely benign | 1201180702 | RCV001430882; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458797 | 78458797 | | | 78458797 | - | | |
NM_016373.4(WWOX):c.638C>A (p.Thr213Asn) | 51741 | WWOX | Uncertain significance | 753602303 | RCV000692735; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458799 | 78458799 | | | NC_000016.9:g.78458799C>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.640T>G (p.Phe214Val) | 51741 | WWOX | Uncertain significance | -1 | RCV002825377; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458801 | 78458801 | | | NC_000016.9:g.78458801T>G | - | | |
NM_016373.4(WWOX):c.641T>A (p.Phe214Tyr) | 51741 | WWOX | Uncertain significance | 1474238209 | RCV001220197; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458802 | 78458802 | | | 16:g.78458802T>A | - | | |
NM_016373.4(WWOX):c.645T>C (p.Ala215=) | 51741 | WWOX | Likely benign | -1 | RCV002725521; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458806 | 78458806 | | | | - | | |
NM_016373.4(WWOX):c.646C>G (p.Leu216Val) | 51741 | WWOX | Benign | 7201683 | RCV000244851|RCV000473650|RCV002244650|RCV002244651; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78458807 | 78458807 | | | NC_000016.9:g.78458807C>G | ClinGen:CA8183402,UniProtKB:Q9NZC7#VAR_052323 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.647T>C (p.Leu216Pro) | 51741 | WWOX | Uncertain significance | 1385370021 | RCV001208705|RCV002274146; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78458808 | 78458808 | | | 16:g.78458808T>C | - | | |
NM_016373.4(WWOX):c.650C>G (p.Pro217Arg) | 51741 | WWOX | Uncertain significance | 777579075 | RCV002005307; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458811 | 78458811 | | | 78458811 | - | | |
NM_016373.4(WWOX):c.650C>T (p.Pro217Leu) | 51741 | WWOX | Uncertain significance | -1 | RCV003011755; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458811 | 78458811 | | | NC_000016.9:g.78458811C>T | - | | |
NM_016373.4(WWOX):c.651C>G (p.Pro217=) | 51741 | WWOX | Likely benign | 746893085 | RCV002136124; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458812 | 78458812 | | | 78458812 | - | | |
NM_016373.4(WWOX):c.656G>A (p.Ser219Asn) | 51741 | WWOX | Uncertain significance | 367599412 | RCV001066742; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458817 | 78458817 | | | 16:g.78458817G>A | - | | |
NM_016373.4(WWOX):c.658C>G (p.Leu220Val) | 51741 | WWOX | Uncertain significance | 770774574 | RCV001766310|RCV002252703|RCV002540641|RCV001885089; | N | MedGen:C3661900||MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458819 | 78458819 | | | 78458819 | - | | |
NM_016373.4(WWOX):c.666A>C (p.Lys222Asn) | 51741 | WWOX | Uncertain significance | 982171635 | RCV001230406; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458827 | 78458827 | | | 16:g.78458827A>C | - | | |
NM_016373.4(WWOX):c.667G>A (p.Asp223Asn) | 51741 | WWOX | Uncertain significance | 768734917 | RCV000688729; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458828 | 78458828 | | | NC_000016.9:g.78458828G>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.668A>T (p.Asp223Val) | 51741 | WWOX | Uncertain significance | 1392246150 | RCV002043312; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458829 | 78458829 | | | 78458829 | - | | |
NM_016373.4(WWOX):c.669T>C (p.Asp223=) | 51741 | WWOX | Benign/Likely benign | 72549408 | RCV000425787|RCV001513769|RCV002244915|RCV002244916; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78458830 | 78458830 | | | 16:g.78458830T>C | ClinGen:CA8183409 | CN169374 not specified; | |
NM_016373.4(WWOX):c.670G>A (p.Gly224Ser) | 51741 | WWOX | Uncertain significance | 1349025177 | RCV001960200; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458831 | 78458831 | | | 78458831 | - | | |
NM_016373.4(WWOX):c.673C>G (p.Leu225Val) | 51741 | WWOX | Uncertain significance | 376040091 | RCV000522388|RCV000824069; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458834 | 78458834 | | | NC_000016.9:g.78458834C>G | ClinGen:CA8183410 | | |
NM_016373.4(WWOX):c.678G>A (p.Glu226=) | 51741 | WWOX | Likely benign | 750905852 | RCV000525379; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458839 | 78458839 | | | 16:g.78458839G>A | ClinGen:CA8183412 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.682A>C (p.Thr228Pro) | 51741 | WWOX | Uncertain significance | 1567565338 | RCV000696735; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458843 | 78458843 | | | 16:g.78458843A>C | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.683C>G (p.Thr228Ser) | 51741 | WWOX | Uncertain significance | 761250135 | RCV001370171; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458844 | 78458844 | | | 78458844 | - | | |
NM_016373.4(WWOX):c.683C>T (p.Thr228Ile) | 51741 | WWOX | Uncertain significance | 761250135 | RCV001985912; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458844 | 78458844 | | | 78458844 | - | | |
NM_016373.4(WWOX):c.684C>G (p.Thr228=) | 51741 | WWOX | Likely benign | -1 | RCV002760958; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458845 | 78458845 | | | | - | | |
NM_016373.4(WWOX):c.688C>G (p.Gln230Glu) | 51741 | WWOX | Uncertain significance | 1057524749 | RCV000429648|RCV001865403; | N | MedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458849 | 78458849 | | | NC_000016.9:g.78458849C>G | ClinGen:CA16608276 | | |
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro) | 51741 | WWOX | Pathogenic/Likely pathogenic | -1 | RCV001004706|RCV001389252|RCV001814252|RCV002286798|RCV002249620|RCV002307653|RCV002505539|RCV003411947; | N | MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human | 16 | 78458850 | 78458850 | | | 16:g.78458850A>C | - | | |
NM_016373.4(WWOX):c.690A>G (p.Gln230=) | 51741 | WWOX | Likely benign | 372408512 | RCV002109844; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458851 | 78458851 | | | 78458851 | - | | |
NM_016373.4(WWOX):c.691G>C (p.Val231Leu) | 51741 | WWOX | Uncertain significance | 755974419 | RCV001053956|RCV001759794; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202 | 16 | 78458852 | 78458852 | | | 16:g.78458852G>C | - | | |
NM_016373.4(WWOX):c.697C>A (p.His233Asn) | 51741 | WWOX | Uncertain significance | 757863128 | RCV001219343|RCV001751418; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202 | 16 | 78458858 | 78458858 | | | 16:g.78458858C>A | - | | |
NM_016373.4(WWOX):c.698A>T (p.His233Leu) | 51741 | WWOX | Uncertain significance | 1266205670 | RCV002014119; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458859 | 78458859 | | | 78458859 | - | | |
NM_016373.4(WWOX):c.705dup (p.His236fs) | 51741 | WWOX | Pathogenic | 1597216056 | RCV000989641|RCV003117661|RCV003325982; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835 | 16 | 78458862 | 78458863 | | | 16:g.78458862_78458863insG | - | | |
NM_016373.4(WWOX):c.702G>A (p.Leu234=) | 51741 | WWOX | Uncertain significance | 2151959991 | RCV001984258; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458863 | 78458863 | | | 78458863 | - | | |
NM_016373.4(WWOX):c.704G>T (p.Gly235Val) | 51741 | WWOX | Uncertain significance | 1169887175 | RCV001373190; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458865 | 78458865 | | | 78458865 | - | | |
NM_016373.4(WWOX):c.708C>G (p.His236Gln) | 51741 | WWOX | Uncertain significance | 745681407 | RCV000650194|RCV003140040; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78458869 | 78458869 | | | 16:g.78458869C>G | ClinGen:CA8183424 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.711C>G (p.Phe237Leu) | 51741 | WWOX | Uncertain significance | 769589145 | RCV001327222|RCV002305599; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78458872 | 78458872 | | | 78458872 | - | | |
NM_016373.4(WWOX):c.711C>A (p.Phe237Leu) | 51741 | WWOX | Uncertain significance | 769589145 | RCV001891317; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458872 | 78458872 | | | 78458872 | - | | |
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys) | 51741 | WWOX | Uncertain significance | 142806268 | RCV000442070|RCV000650207|RCV001731672; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458874 | 78458874 | | | 16:g.78458874A>G | ClinGen:CA8183426 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.715C>G (p.Leu239Val) | 51741 | WWOX | Uncertain significance | 575080327 | RCV000540087; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458876 | 78458876 | | | NC_000016.9:g.78458876C>G | ClinGen:CA8183427 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.721C>G (p.Gln241Glu) | 51741 | WWOX | Uncertain significance | 540386692 | RCV001226831; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458882 | 78458882 | | | 16:g.78458882C>G | - | | |
NM_016373.4(WWOX):c.723G>A (p.Gln241=) | 51741 | WWOX | Likely benign | 191029309 | RCV000866422|RCV001697793; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 78458884 | 78458884 | | | 16:g.78458884G>A | ClinGen:CA8183432 | CN169374 not specified; | |
NM_016373.4(WWOX):c.729C>G (p.Leu243=) | 51741 | WWOX | Likely benign | 2083042980 | RCV001450970; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458890 | 78458890 | | | 78458890 | - | | |
NM_016373.4(WWOX):c.736G>A (p.Val246Ile) | 51741 | WWOX | Uncertain significance | 1262275069 | RCV002019106; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458897 | 78458897 | | | 78458897 | - | | |
NM_016373.4(WWOX):c.737T>C (p.Val246Ala) | 51741 | WWOX | Uncertain significance | 200966505 | RCV001982787|RCV003156364; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78458898 | 78458898 | | | 78458898 | - | | |
NM_016373.4(WWOX):c.739T>C (p.Leu247=) | 51741 | WWOX | Likely benign | 1195368309 | RCV000866990|RCV001718888; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 78458900 | 78458900 | | | 16:g.78458900T>C | ClinGen:CA496609290 | CN169374 not specified; | |
NM_016373.4(WWOX):c.744C>T (p.Cys248=) | 51741 | WWOX | Likely benign | 1597216164 | RCV001495389; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458905 | 78458905 | | | 16:g.78458905C>T | - | | |
NM_016373.4(WWOX):c.745C>A (p.Arg249Ser) | 51741 | WWOX | Uncertain significance | 749277249 | RCV000523919|RCV001853656; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458906 | 78458906 | | | NC_000016.9:g.78458906C>A | ClinGen:CA8183438 | | |
NM_016373.4(WWOX):c.745C>T (p.Arg249Cys) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 749277249 | RCV000698733|RCV001507347; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78458906 | 78458906 | | | 16:g.78458906C>T | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.746G>A (p.Arg249His) | 51741 | WWOX | Uncertain significance | 756703833 | RCV000819563|RCV002487824|RCV002510989; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:00 | 16 | 78458907 | 78458907 | | | 16:g.78458907G>A | - | | |
NM_016373.4(WWOX):c.747C>G (p.Arg249=) | 51741 | WWOX | Benign/Likely benign | 375934868 | RCV000866718|RCV001718989|RCV002245046|RCV002245047; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78458908 | 78458908 | | | 16:g.78458908C>G | ClinGen:CA8183442 | CN169374 not specified; | |
NM_016373.4(WWOX):c.748T>A (p.Ser250Thr) | 51741 | WWOX | Uncertain significance | 941156863 | RCV001924350; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458909 | 78458909 | | | 78458909 | - | | |
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter) | 51741 | WWOX | Pathogenic/Likely pathogenic | 368928190 | RCV000413095|RCV001385286|RCV002518924; | N | MedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | 16 | 78458910 | 78458910 | | | 16:g.78458910C>G | ClinGen:CA8183444 | C4015519 616211 Epileptic encephalopathy, early infantile, 28; | |
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) | 51741 | WWOX | Benign | 75559202 | RCV000435836|RCV000460829|RCV000656054|RCV001796043|RCV002244884|RCV002244885; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28 | 16 | 78458915 | 78458915 | | | 16:g.78458915C>G | ClinGen:CA8183447 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.757G>T (p.Ala253Ser) | 51741 | WWOX | Uncertain significance | 896783193 | RCV000817501; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458918 | 78458918 | | | 16:g.78458918G>T | - | | |
NM_016373.4(WWOX):c.758C>G (p.Ala253Gly) | 51741 | WWOX | Uncertain significance | 771068553 | RCV001304108; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458919 | 78458919 | | | 78458919 | - | | |
NM_016373.4(WWOX):c.759C>A (p.Ala253=) | 51741 | WWOX | Likely benign | 1363794629 | RCV001413170|RCV003413769; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78458920 | 78458920 | | | 16:g.78458920C>A | - | | |
NM_016373.4(WWOX):c.760C>T (p.Arg254Cys) | 51741 | WWOX | Uncertain significance | 369715848 | RCV001373127|RCV001823200; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78458921 | 78458921 | | | 78458921 | - | | |
NM_016373.4(WWOX):c.761G>A (p.Arg254His) | 51741 | WWOX | Uncertain significance | -1 | RCV002603175; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458922 | 78458922 | | | NC_000016.9:g.78458922G>A | - | | |
NM_016373.4(WWOX):c.763G>A (p.Val255Ile) | 51741 | WWOX | Uncertain significance | 765590833 | RCV001366183; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458924 | 78458924 | | | 78458924 | - | | |
NM_016373.4(WWOX):c.764T>C (p.Val255Ala) | 51741 | WWOX | Uncertain significance | -1 | RCV003064057; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458925 | 78458925 | | | NC_000016.9:g.78458925T>C | - | | |
NM_016373.4(WWOX):c.765C>A (p.Val255=) | 51741 | WWOX | Likely benign | 1232507130 | RCV002175479; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458926 | 78458926 | | | 78458926 | - | | |
NM_016373.4(WWOX):c.765C>G (p.Val255=) | 51741 | WWOX | Likely benign | -1 | RCV003008454; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458926 | 78458926 | | | | - | | |
NM_016373.4(WWOX):c.766A>T (p.Ile256Phe) | 51741 | WWOX | Uncertain significance | 1023419687 | RCV000658284|RCV001038611|RCV001193911; | N | MedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374 | 16 | 78458927 | 78458927 | | | NC_000016.9:g.78458927A>T | - | | |
NM_016373.4(WWOX):c.766A>G (p.Ile256Val) | 51741 | WWOX | Uncertain significance | 1023419687 | RCV001924493; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458927 | 78458927 | | | 78458927 | - | | |
NM_016373.4(WWOX):c.767T>C (p.Ile256Thr) | 51741 | WWOX | Uncertain significance | 775895501 | RCV000489436|RCV001339951; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458928 | 78458928 | | | NC_000016.9:g.78458928T>C | ClinGen:CA8183452 | | |
NM_016373.4(WWOX):c.774C>G (p.Val258=) | 51741 | WWOX | Likely benign | 1597216285 | RCV001816177|RCV003107855; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458935 | 78458935 | | | 78458935 | - | | |
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter) | 51741 | WWOX | Pathogenic | 878855021 | RCV000234306; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458940 | 78458940 | | | 16:g.78458940C>G | ClinGen:CA10583430 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.780A>G (p.Ser260=) | 51741 | WWOX | Likely benign | 2083044569 | RCV002203216; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458941 | 78458941 | | | 78458941 | - | | |
NM_016373.4(WWOX):c.782A>G (p.Glu261Gly) | 51741 | WWOX | Uncertain significance | 1464495960 | RCV001755477|RCV002544163; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458943 | 78458943 | | | 78458943 | - | | |
NM_016373.4(WWOX):c.786C>T (p.Ser262=) | 51741 | WWOX | Likely benign | 376709568 | RCV000866126; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458947 | 78458947 | | | 16:g.78458947C>T | - | | |
NM_016373.4(WWOX):c.789T>C (p.His263=) | 51741 | WWOX | Likely benign | 2083044812 | RCV002186229; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458950 | 78458950 | | | 78458950 | - | | |
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) | 51741 | WWOX | Pathogenic | 756762196 | RCV000229073|RCV000486785|RCV000763386|RCV002273998; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:44283 | 16 | 78458951 | 78458951 | | | NC_000016.9:g.78458951C>T | ClinGen:CA8183456 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.790C>G (p.Arg264Gly) | 51741 | WWOX | Uncertain significance | 756762196 | RCV001961606; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458951 | 78458951 | | | 78458951 | - | | |
NM_016373.4(WWOX):c.791G>A (p.Arg264Gln) | 51741 | WWOX | Uncertain significance | -1 | RCV002599769; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458952 | 78458952 | | | NC_000016.9:g.78458952G>A | - | | |
NM_016373.4(WWOX):c.791+1G>T | 51741 | WWOX | Likely pathogenic | 1164465811 | RCV001378810; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458953 | 78458953 | | | 78458953 | - | | |
NM_016373.4(WWOX):c.791+4G>T | 51741 | WWOX | Uncertain significance | 766952918 | RCV000798304|RCV002252238; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282| | 16 | 78458956 | 78458956 | | | 16:g.78458956G>T | - | | |
NM_016373.4(WWOX):c.791+4G>C | 51741 | WWOX | Uncertain significance | -1 | RCV002614117; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458956 | 78458956 | | | NC_000016.9:g.78458956G>C | - | | |
NM_016373.4(WWOX):c.791+5G>C | 51741 | WWOX | Uncertain significance | 756074406 | RCV000554823; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458957 | 78458957 | | | NC_000016.9:g.78458957G>C | ClinGen:CA8183459 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.791+11A>G | 51741 | WWOX | Likely benign | 779754174 | RCV002197164; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458963 | 78458963 | | | 78458963 | - | | |
NM_016373.4(WWOX):c.791+14G>A | 51741 | WWOX | Likely benign | 753689854 | RCV002187684; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458966 | 78458966 | | | 78458966 | - | | |
NM_016373.4(WWOX):c.791+16A>G | 51741 | WWOX | Likely benign | 2083045240 | RCV002211628; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78458968 | 78458968 | | | 78458968 | - | | |
NM_016373.4(WWOX):c.791+20T>C | 51741 | WWOX | Likely benign | -1 | RCV003018865; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78458972 | 78458972 | | | NC_000016.9:g.78458972T>C | - | | |
NC_000016.10:g.(?_78432468)_(78432772_?)del | 51741 | WWOX | Likely pathogenic | -1 | RCV000650219; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466365 | 78466669 | | | | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.792-20T>C | 51741 | WWOX | Likely benign | 2151385825 | RCV002108743; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466365 | 78466365 | | | 78466365 | - | | |
NM_016373.4(WWOX):c.792-15T>C | 51741 | WWOX | Likely benign | 769065057 | RCV000610527|RCV002066881; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466370 | 78466370 | | | 16:g.78466370T>C | ClinGen:CA658798639 | CN169374 not specified; | |
NM_016373.4(WWOX):c.792-9A>G | 51741 | WWOX | Likely benign | 376320385 | RCV002148533; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466376 | 78466376 | | | 78466376 | - | | |
NM_016373.4(WWOX):c.792-6T>G | 51741 | WWOX | Likely benign | 771690273 | RCV001881430; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466379 | 78466379 | | | 78466379 | - | | |
NM_016373.4(WWOX):c.792A>G (p.Arg264=) | 51741 | WWOX | Uncertain significance | -1 | RCV003039428; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466385 | 78466385 | | | | - | | |
NM_016373.4(WWOX):c.793T>A (p.Phe265Ile) | 51741 | WWOX | Uncertain significance | 2083245410 | RCV001233173; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466386 | 78466386 | | | 16:g.78466386T>A | - | | |
NM_016373.4(WWOX):c.798A>C (p.Thr266=) | 51741 | WWOX | Likely benign | 377727422 | RCV001438165; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466391 | 78466391 | | | 78466391 | - | | |
NM_016373.4(WWOX):c.798A>G (p.Thr266=) | 51741 | WWOX | Likely benign | 377727422 | RCV002174730; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466391 | 78466391 | | | 78466391 | - | | |
NM_016373.4(WWOX):c.800A>G (p.Asp267Gly) | 51741 | WWOX | Uncertain significance | -1 | RCV002928532; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466393 | 78466393 | | | NC_000016.9:g.78466393A>G | - | | |
NM_016373.4(WWOX):c.803T>A (p.Ile268Asn) | 51741 | WWOX | Uncertain significance | -1 | RCV003080802; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466396 | 78466396 | | | NC_000016.9:g.78466396T>A | - | | |
NM_016373.4(WWOX):c.807C>T (p.Asn269=) | 51741 | WWOX | Benign/Likely benign | 62034095 | RCV000501786|RCV000714214|RCV001083409|RCV002244942|RCV002244943; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162 | 16 | 78466400 | 78466400 | | | NC_000016.9:g.78466400C>T | ClinGen:CA8183498 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.812C>T (p.Ser271Phe) | 51741 | WWOX | Uncertain significance | 758222414 | RCV001215184; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466405 | 78466405 | | | 16:g.78466405C>T | - | | |
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 186745328 | RCV000443525|RCV001080349|RCV001820753; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN169374 | 16 | 78466409 | 78466409 | | | 16:g.78466409G>T | ClinGen:CA8183503,UniProtKB:Q9NZC7#VAR_023920 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.818G>A (p.Gly273Glu) | 51741 | WWOX | Uncertain significance | 756228469 | RCV001242345|RCV003156326; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202 | 16 | 78466411 | 78466411 | | | 16:g.78466411G>A | - | | |
NM_016373.4(WWOX):c.823C>T (p.Leu275=) | 51741 | WWOX | Likely benign | 1272996029 | RCV000543900; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466416 | 78466416 | | | 16:g.78466416C>T | ClinGen:CA496697932 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.827A>C (p.Asp276Ala) | 51741 | WWOX | Uncertain significance | 2083246915 | RCV002014842; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466420 | 78466420 | | | 78466420 | - | | |
NM_016373.4(WWOX):c.828C>G (p.Asp276Glu) | 51741 | WWOX | Uncertain significance | 372225190 | RCV000692524; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466421 | 78466421 | | | 16:g.78466421C>G | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.833G>A (p.Ser278Asn) | 51741 | WWOX | Uncertain significance | -1 | RCV003013143; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466426 | 78466426 | | | NC_000016.9:g.78466426G>A | - | | |
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) | 51741 | WWOX | Benign/Likely benign | 77314072 | RCV000224551|RCV000430448|RCV001084200|RCV002243899|RCV002243900; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162 | 16 | 78466428 | 78466428 | | | 16:g.78466428C>T | ClinGen:CA8183508 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.836G>A (p.Arg279His) | 51741 | WWOX | Likely benign | 748534396 | RCV001954097; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466429 | 78466429 | | | 78466429 | - | | |
NM_016373.4(WWOX):c.838C>G (p.Leu280Val) | 51741 | WWOX | Uncertain significance | -1 | RCV002976695; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466431 | 78466431 | | | NC_000016.9:g.78466431C>G | - | | |
NM_016373.4(WWOX):c.840C>G (p.Leu280=) | 51741 | WWOX | Likely benign | 772356641 | RCV001472306; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466433 | 78466433 | | | 16:g.78466433C>G | - | | |
NM_016373.4(WWOX):c.840C>T (p.Leu280=) | 51741 | WWOX | Likely benign | -1 | RCV002928535; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466433 | 78466433 | | | | - | | |
NM_016373.4(WWOX):c.842C>T (p.Ser281Phe) | 51741 | WWOX | Uncertain significance | 1567570252 | RCV000694008; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466435 | 78466435 | | | 16:g.78466435C>T | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.843T>A (p.Ser281=) | 51741 | WWOX | Likely benign | 367855242 | RCV001462144; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466436 | 78466436 | | | 16:g.78466436T>A | - | | |
NM_016373.4(WWOX):c.843_844delinsCG (p.Pro282Ala) | 51741 | WWOX | Likely benign | -1 | RCV002881461; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466436 | 78466437 | | | NC_000016.9:g.78466436_78466437delinsCG | - | | |
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala) | 51741 | WWOX | Benign | 3764340 | RCV000249793|RCV001511255|RCV002244652|RCV002244653; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78466437 | 78466437 | | | NC_000016.9:g.78466437C>G | ClinGen:CA8183512,UniProtKB:Q9NZC7#VAR_023921 | CN169374 not specified; | |
NM_016373.4(WWOX):c.845C>T (p.Pro282Leu) | 51741 | WWOX | Uncertain significance | 770542796 | RCV001362487; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466438 | 78466438 | | | 78466438 | - | | |
NM_016373.4(WWOX):c.845C>A (p.Pro282Gln) | 51741 | WWOX | Uncertain significance | -1 | RCV002667482; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466438 | 78466438 | | | NC_000016.9:g.78466438C>A | - | | |
NM_016373.4(WWOX):c.847A>G (p.Thr283Ala) | 51741 | WWOX | Uncertain significance | 1037290766 | RCV001233890; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466440 | 78466440 | | | 16:g.78466440A>G | - | | |
NM_016373.4(WWOX):c.847A>T (p.Thr283Ser) | 51741 | WWOX | Uncertain significance | -1 | RCV002725852; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466440 | 78466440 | | | NC_000016.9:g.78466440A>T | - | | |
NM_016373.4(WWOX):c.848C>A (p.Thr283Lys) | 51741 | WWOX | Uncertain significance | 1186552961 | RCV000554060; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466441 | 78466441 | | | 16:g.78466441C>A | ClinGen:CA396843137 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.854dup (p.Asn285fs) | 51741 | WWOX | Pathogenic | 1394607357 | RCV001211320; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466441 | 78466442 | | | 16:g.78466441_78466442insA | - | | |
NM_016373.4(WWOX):c.851A>G (p.Lys284Arg) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 897453553 | RCV000414593|RCV000532362|RCV001591051; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 78466444 | 78466444 | | | 16:g.78466444A>G | ClinGen:CA16043024 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.855C>T (p.Asn285=) | 51741 | WWOX | Likely benign | 767903006 | RCV001926224; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466448 | 78466448 | | | 78466448 | - | | |
NM_016373.4(WWOX):c.856G>T (p.Asp286Tyr) | 51741 | WWOX | Uncertain significance | 374658336 | RCV000420839|RCV000704870; | N | MedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466449 | 78466449 | | | 16:g.78466449G>T | ClinGen:CA8183520 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.856G>C (p.Asp286His) | 51741 | WWOX | Uncertain significance | 374658336 | RCV001361132; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466449 | 78466449 | | | 78466449 | - | | |
NM_016373.4(WWOX):c.860A>G (p.Tyr287Cys) | 51741 | WWOX | Uncertain significance | 369890118 | RCV001367038; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466453 | 78466453 | | | 78466453 | - | | |
NM_016373.4(WWOX):c.866C>T (p.Ala289Val) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 753894507 | RCV001371642|RCV001560188; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78466459 | 78466459 | | | 78466459 | - | | |
NM_016373.4(WWOX):c.867G>A (p.Ala289=) | 51741 | WWOX | Likely benign | 755002954 | RCV000607687|RCV001469625; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466460 | 78466460 | | | 16:g.78466460G>A | ClinGen:CA8183524 | CN169374 not specified; | |
NM_016373.4(WWOX):c.867G>C (p.Ala289=) | 51741 | WWOX | Likely benign | 755002954 | RCV000650218; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466460 | 78466460 | | | NC_000016.9:g.78466460G>C | ClinGen:CA284547246 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.869T>C (p.Met290Thr) | 51741 | WWOX | Uncertain significance | 1035627222 | RCV000547098; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466462 | 78466462 | | | 16:g.78466462T>C | ClinGen:CA284547249 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.870G>A (p.Met290Ile) | 51741 | WWOX | Uncertain significance | 199809390 | RCV001352209; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466463 | 78466463 | | | 78466463 | - | | |
NM_016373.4(WWOX):c.871C>T (p.Leu291=) | 51741 | WWOX | Likely benign | 1230337512 | RCV001403494; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466464 | 78466464 | | | 78466464 | - | | |
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro) | 51741 | WWOX | Uncertain significance | 119487098 | RCV000005513|RCV002298434; | N | MedGen:C4016881|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466465 | 78466465 | | | 16:g.78466465T>C | ClinGen:CA117326,UniProtKB:Q9NZC7#VAR_023922,OMIM:605131.0001 | C4016881 Esophageal squamous cell carcinoma, somatic; | |
NM_016373.4(WWOX):c.874G>T (p.Ala292Ser) | 51741 | WWOX | Uncertain significance | 376560613 | RCV001039393; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466467 | 78466467 | | | 16:g.78466467G>T | - | | |
NM_016373.4(WWOX):c.874G>C (p.Ala292Pro) | 51741 | WWOX | Uncertain significance | 376560613 | RCV001342964; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466467 | 78466467 | | | 78466467 | - | | |
NM_016373.4(WWOX):c.876T>G (p.Ala292=) | 51741 | WWOX | Benign/Likely benign | 74030232 | RCV000427016|RCV000469221|RCV001703730|RCV002244887|RCV002244888; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162 | 16 | 78466469 | 78466469 | | | 16:g.78466469T>G | ClinGen:CA8183531 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.876T>C (p.Ala292=) | 51741 | WWOX | Benign | 74030232 | RCV000434624|RCV000476648|RCV002244889|RCV002244890|RCV003311809; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 78466469 | 78466469 | | | 16:g.78466469T>C | ClinGen:CA8183530 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.880A>G (p.Asn294Asp) | 51741 | WWOX | Uncertain significance | 775585652 | RCV001069138; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466473 | 78466473 | | | 16:g.78466473A>G | - | | |
NM_016373.4(WWOX):c.882C>G (p.Asn294Lys) | 51741 | WWOX | Uncertain significance | 2151386030 | RCV001369738; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466475 | 78466475 | | | 78466475 | - | | |
NM_016373.4(WWOX):c.884G>C (p.Arg295Thr) | 51741 | WWOX | Uncertain significance | -1 | RCV003020741; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466477 | 78466477 | | | NC_000016.9:g.78466477G>C | - | | |
NM_016373.4(WWOX):c.885G>A (p.Arg295=) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 79771882 | RCV000193579|RCV000714215|RCV001086884; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466478 | 78466478 | | | NC_000016.9:g.78466478G>A | ClinGen:CA207157 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.887C>G (p.Ser296Cys) | 51741 | WWOX | Uncertain significance | 1385421754 | RCV000798333; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466480 | 78466480 | | | 16:g.78466480C>G | - | | |
NM_016373.4(WWOX):c.888C>G (p.Ser296=) | 51741 | WWOX | Benign | 3764341 | RCV000423983|RCV000714216|RCV001085141|RCV002244906|RCV002244905; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:6143 | 16 | 78466481 | 78466481 | | | 16:g.78466481C>G | ClinGen:CA8183537 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.891G>A (p.Lys297=) | 51741 | WWOX | Likely benign | -1 | RCV002651171; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466484 | 78466484 | | | | - | | |
NM_016373.4(WWOX):c.892C>G (p.Leu298Val) | 51741 | WWOX | Uncertain significance | -1 | RCV002710480; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466485 | 78466485 | | | NC_000016.9:g.78466485C>G | - | | |
NM_016373.4(WWOX):c.898A>G (p.Asn300Asp) | 51741 | WWOX | Uncertain significance | 374541202 | RCV000229679|RCV000502667|RCV003137849; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN169374|MedGen:C3661900 | 16 | 78466491 | 78466491 | | | 16:g.78466491A>G | ClinGen:CA8183541 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.899A>G (p.Asn300Ser) | 51741 | WWOX | Uncertain significance | 1860301714 | RCV001349117; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466492 | 78466492 | | | 78466492 | - | | |
NM_016373.4(WWOX):c.903C>G (p.Ile301Met) | 51741 | WWOX | Uncertain significance | 758799029 | RCV001898655; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466496 | 78466496 | | | 78466496 | - | | |
NM_016373.4(WWOX):c.903C>T (p.Ile301=) | 51741 | WWOX | Likely benign | -1 | RCV002636785; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466496 | 78466496 | | | | - | | |
NM_016373.4(WWOX):c.904C>T (p.Leu302Phe) | 51741 | WWOX | Uncertain significance | 757597956 | RCV001048019; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466497 | 78466497 | | | 16:g.78466497C>T | - | | |
NM_016373.4(WWOX):c.906C>T (p.Leu302=) | 51741 | WWOX | Likely benign | 377404672 | RCV002179323; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466499 | 78466499 | | | 78466499 | - | | |
NM_016373.4(WWOX):c.909C>T (p.Phe303=) | 51741 | WWOX | Likely benign | -1 | RCV003030699; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466502 | 78466502 | | | | - | | |
NM_016373.4(WWOX):c.912C>T (p.Ser304=) | 51741 | WWOX | Likely benign | 745464578 | RCV002202662; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466505 | 78466505 | | | 78466505 | - | | |
NM_016373.4(WWOX):c.914A>G (p.Asn305Ser) | 51741 | WWOX | Uncertain significance | 1224888299 | RCV002004848; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466507 | 78466507 | | | 78466507 | - | | |
NM_016373.4(WWOX):c.915C>A (p.Asn305Lys) | 51741 | WWOX | Uncertain significance | 201818301 | RCV001368529; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466508 | 78466508 | | | 78466508 | - | | |
NM_016373.4(WWOX):c.915C>T (p.Asn305=) | 51741 | WWOX | Likely benign | 201818301 | RCV001498771; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466508 | 78466508 | | | 78466508 | - | | |
NM_016373.4(WWOX):c.916G>A (p.Glu306Lys) | 51741 | WWOX | Uncertain significance | 1326472012 | RCV001344756; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466509 | 78466509 | | | 78466509 | - | | |
NM_016373.4(WWOX):c.918del (p.Glu306fs) | 51741 | WWOX | Pathogenic/Likely pathogenic | 1057518795 | RCV000415161|RCV001198240|RCV001861445; | N | Human Phenotype Ontology:HP:0200134,MedGen:C0543888|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466511 | 78466511 | | | NC_000016.9:g.78466511del | ClinGen:CA16043515 | C0543888 Epileptic encephalopathy; | |
NM_016373.4(WWOX):c.918G>A (p.Glu306=) | 51741 | WWOX | Likely benign | 2151386096 | RCV001441453; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466511 | 78466511 | | | 78466511 | - | | |
NM_016373.4(WWOX):c.919C>G (p.Leu307Val) | 51741 | WWOX | Uncertain significance | 200320711 | RCV001227667|RCV001819926; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374 | 16 | 78466512 | 78466512 | | | 16:g.78466512C>G | - | | |
NM_016373.4(WWOX):c.919C>T (p.Leu307=) | 51741 | WWOX | Likely benign | 200320711 | RCV002076547; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466512 | 78466512 | | | 78466512 | - | | |
NM_016373.4(WWOX):c.921G>T (p.Leu307=) | 51741 | WWOX | Likely benign | -1 | RCV002628684; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466514 | 78466514 | | | | - | | |
NM_016373.4(WWOX):c.923A>G (p.His308Arg) | 51741 | WWOX | Uncertain significance | 2151386107 | RCV002031926; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466516 | 78466516 | | | 78466516 | - | | |
NM_016373.4(WWOX):c.924C>G (p.His308Gln) | 51741 | WWOX | Uncertain significance | 774296956 | RCV001900967; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466517 | 78466517 | | | 78466517 | - | | |
NM_016373.4(WWOX):c.925C>T (p.Arg309Cys) | 51741 | WWOX | Uncertain significance | 761545702 | RCV000650202; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466518 | 78466518 | | | NC_000016.9:g.78466518C>T | ClinGen:CA8183554 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.926G>A (p.Arg309His) | 51741 | WWOX | Uncertain significance | 370792938 | RCV001753330|RCV001885096|RCV002489818; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:44283 | 16 | 78466519 | 78466519 | | | 78466519 | - | | |
NM_016373.4(WWOX):c.928C>T (p.Arg310Cys) | 51741 | WWOX | Uncertain significance | 193001955 | RCV000811407|RCV001507348; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78466521 | 78466521 | | | 16:g.78466521C>T | - | | |
NM_016373.4(WWOX):c.931C>T (p.Leu311Phe) | 51741 | WWOX | Uncertain significance | 1455737775 | RCV001059761; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466524 | 78466524 | | | 16:g.78466524C>T | - | | |
NM_016373.4(WWOX):c.933C>G (p.Leu311=) | 51741 | WWOX | Likely benign | 757508300 | RCV000602180|RCV001506586; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466526 | 78466526 | | | 16:g.78466526C>G | ClinGen:CA8183559 | CN169374 not specified; | |
NM_016373.4(WWOX):c.935C>T (p.Ser312Phe) | 51741 | WWOX | Uncertain significance | 79399971 | RCV000503831|RCV001051189|RCV001576612; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202 | 16 | 78466528 | 78466528 | | | NC_000016.9:g.78466528C>T | ClinGen:CA8183560 | CN169374 not specified; | |
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) | 51741 | WWOX | Uncertain significance | 79399971 | RCV000700896|RCV000764079|RCV001775974; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:0 | 16 | 78466528 | 78466528 | | | 16:g.78466528C>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.936C>T (p.Ser312=) | 51741 | WWOX | Likely benign | 2151386149 | RCV002201591; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466529 | 78466529 | | | 78466529 | - | | |
NM_016373.4(WWOX):c.937C>G (p.Pro313Ala) | 51741 | WWOX | Uncertain significance | 370345936 | RCV000457359; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466530 | 78466530 | | | NC_000016.9:g.78466530C>G | ClinGen:CA8183562 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.938C>G (p.Pro313Arg) | 51741 | WWOX | Uncertain significance | -1 | RCV003001966; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466531 | 78466531 | | | NC_000016.9:g.78466531C>G | - | | |
NM_016373.4(WWOX):c.940C>T (p.Arg314Cys) | 51741 | WWOX | Uncertain significance | 781683643 | RCV001226929|RCV003142188; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78466533 | 78466533 | | | 16:g.78466533C>T | - | | |
NM_016373.4(WWOX):c.941G>A (p.Arg314His) | 51741 | WWOX | Benign | 73572838 | RCV000242986|RCV000714217|RCV001082703|RCV002244655|RCV002244654; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:6143 | 16 | 78466534 | 78466534 | | | 16:g.78466534G>A | ClinGen:CA8183566,UniProtKB:Q9NZC7#VAR_023923 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.941G>C (p.Arg314Pro) | 51741 | WWOX | Uncertain significance | 73572838 | RCV001881406; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466534 | 78466534 | | | 78466534 | - | | |
NM_016373.4(WWOX):c.942C>T (p.Arg314=) | 51741 | WWOX | Likely benign | 568012503 | RCV000842487|RCV001407772; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466535 | 78466535 | | | 16:g.78466535C>T | - | | |
NM_016373.4(WWOX):c.942C>G (p.Arg314=) | 51741 | WWOX | Likely benign | -1 | RCV003025685; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466535 | 78466535 | | | | - | | |
NM_016373.4(WWOX):c.943G>A (p.Gly315Arg) | 51741 | WWOX | Uncertain significance | 768172617 | RCV000474451; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466536 | 78466536 | | | NC_000016.9:g.78466536G>A | ClinGen:CA8183570 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.943G>C (p.Gly315Arg) | 51741 | WWOX | Uncertain significance | 768172617 | RCV000808289; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466536 | 78466536 | | | 16:g.78466536G>C | - | | |
NM_016373.4(WWOX):c.943G>T (p.Gly315Trp) | 51741 | WWOX | Uncertain significance | 768172617 | RCV001308317; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466536 | 78466536 | | | 78466536 | - | | |
NM_016373.4(WWOX):c.945G>T (p.Gly315=) | 51741 | WWOX | Likely benign | 1232491002 | RCV001500674; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466538 | 78466538 | | | 78466538 | - | | |
NM_016373.4(WWOX):c.945G>A (p.Gly315=) | 51741 | WWOX | Likely benign | 1232491002 | RCV002150157; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466538 | 78466538 | | | 78466538 | - | | |
NM_016373.4(WWOX):c.946G>C (p.Val316Leu) | 51741 | WWOX | Uncertain significance | 201941494 | RCV000556594|RCV003389815; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835 | 16 | 78466539 | 78466539 | | | 16:g.78466539G>C | ClinGen:CA8183571 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.947T>C (p.Val316Ala) | 51741 | WWOX | Uncertain significance | 1476364680 | RCV001917091; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466540 | 78466540 | | | 78466540 | - | | |
NM_016373.4(WWOX):c.948C>G (p.Val316=) | 51741 | WWOX | Likely benign | 201986739 | RCV000472567|RCV001821363; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN169374 | 16 | 78466541 | 78466541 | | | NC_000016.9:g.78466541C>G | ClinGen:CA16615003 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.951G>A (p.Thr317=) | 51741 | WWOX | Likely benign | 759801417 | RCV001476343|RCV001698179; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 78466544 | 78466544 | | | 16:g.78466544G>A | ClinGen:CA8183574 | CN169374 not specified; | |
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 770023814 | RCV000696482|RCV001809762|RCV001567822; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MedGen:CN517202 | 16 | 78466546 | 78466546 | | | 16:g.78466546C>T | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.957C>T (p.Asn319=) | 51741 | WWOX | Likely benign | 144417100 | RCV000456291|RCV001703626; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 78466550 | 78466550 | | | 16:g.78466550C>T | ClinGen:CA8183577 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.958G>A (p.Ala320Thr) | 51741 | WWOX | Uncertain significance | 368670215 | RCV000470287|RCV001753897|RCV002523320; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 16 | 78466551 | 78466551 | | | NC_000016.9:g.78466551G>A | ClinGen:CA8183578 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.961G>C (p.Val321Leu) | 51741 | WWOX | Uncertain significance | 2081146962 | RCV001966104; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466554 | 78466554 | | | 78466554 | - | | |
NM_016373.4(WWOX):c.962T>C (p.Val321Ala) | 51741 | WWOX | Uncertain significance | 774783221 | RCV001889789; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466555 | 78466555 | | | 78466555 | - | | |
NM_016373.4(WWOX):c.963G>A (p.Val321=) | 51741 | WWOX | Likely benign | -1 | RCV003060490; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466556 | 78466556 | | | | - | | |
NM_016373.4(WWOX):c.965A>G (p.His322Arg) | 51741 | WWOX | Uncertain significance | 878855022 | RCV000232247|RCV001775702; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78466558 | 78466558 | | | 16:g.78466558A>G | ClinGen:CA10583431 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.966T>A (p.His322Gln) | 51741 | WWOX | Uncertain significance | 750797952 | RCV001300574; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466559 | 78466559 | | | 78466559 | - | | |
NM_016373.4(WWOX):c.968C>G (p.Pro323Arg) | 51741 | WWOX | Uncertain significance | 1567570468 | RCV000714218|RCV001868334; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466561 | 78466561 | | | NC_000016.9:g.78466561C>G | - | | |
NM_016373.4(WWOX):c.971G>A (p.Gly324Glu) | 51741 | WWOX | Uncertain significance | 766163069 | RCV002039525; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466564 | 78466564 | | | 78466564 | - | | |
NM_016373.4(WWOX):c.972A>C (p.Gly324=) | 51741 | WWOX | Likely benign | -1 | RCV002581954; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466565 | 78466565 | | | | - | | |
NM_016373.4(WWOX):c.977T>C (p.Met326Thr) | 51741 | WWOX | Uncertain significance | 371996496 | RCV000813690; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466570 | 78466570 | | | 16:g.78466570T>C | - | | |
NM_016373.4(WWOX):c.978G>C (p.Met326Ile) | 51741 | WWOX | Uncertain significance | 748074874 | RCV000650205|RCV001766407; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78466571 | 78466571 | | | 16:g.78466571G>C | ClinGen:CA8183588 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.978G>T (p.Met326Ile) | 51741 | WWOX | Uncertain significance | 748074874 | RCV001907382; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466571 | 78466571 | | | 78466571 | - | | |
NM_016373.4(WWOX):c.980T>G (p.Met327Arg) | 51741 | WWOX | Uncertain significance | 1567570484 | RCV002031526; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466573 | 78466573 | | | 78466573 | - | | |
NM_016373.4(WWOX):c.980T>C (p.Met327Thr) | 51741 | WWOX | Uncertain significance | 1567570484 | RCV002027463; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466573 | 78466573 | | | 78466573 | - | | |
NM_016373.4(WWOX):c.981G>A (p.Met327Ile) | 51741 | WWOX | Uncertain significance | 758307666 | RCV000996346|RCV001858834; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466574 | 78466574 | | | 16:g.78466574G>A | - | | |
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser) | 51741 | WWOX | Uncertain significance | 746833923 | RCV001225932|RCV001330930; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835 | 16 | 78466582 | 78466582 | | | 16:g.78466582A>G | - | | |
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) | 51741 | WWOX | Uncertain significance | 117209694 | RCV000650196|RCV000656055|RCV000764080|RCV003227772; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:0007576,MedGen: | 16 | 78466583 | 78466583 | | | 16:g.78466583C>G | ClinGen:CA8183593 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.990C>T (p.Asn330=) | 51741 | WWOX | Likely benign | 117209694 | RCV000530373; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466583 | 78466583 | | | NC_000016.9:g.78466583C>T | ClinGen:CA284547495 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.993T>G (p.Ile331Met) | 51741 | WWOX | Uncertain significance | -1 | RCV002846323; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466586 | 78466586 | | | NC_000016.9:g.78466586T>G | - | | |
NM_016373.4(WWOX):c.994C>T (p.His332Tyr) | 51741 | WWOX | Uncertain significance | 923399366 | RCV000545128; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466587 | 78466587 | | | 16:g.78466587C>T | ClinGen:CA396843417 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.994C>G (p.His332Asp) | 51741 | WWOX | Uncertain significance | -1 | RCV003050162; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466587 | 78466587 | | | NC_000016.9:g.78466587C>G | - | | |
NM_016373.4(WWOX):c.995A>C (p.His332Pro) | 51741 | WWOX | Uncertain significance | 775584864 | RCV000461317|RCV001335819; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835 | 16 | 78466588 | 78466588 | | | NC_000016.9:g.78466588A>C | ClinGen:CA8183594 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.997C>T (p.Arg333Cys) | 51741 | WWOX | Uncertain significance | 369281766 | RCV001544657|RCV002032548; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466590 | 78466590 | | | 78466590 | - | | |
NM_016373.4(WWOX):c.998G>A (p.Arg333His) | 51741 | WWOX | Uncertain significance | 184773837 | RCV000685722|RCV001584553; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 78466591 | 78466591 | | | NC_000016.9:g.78466591G>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.999C>T (p.Arg333=) | 51741 | WWOX | Likely benign | 774462234 | RCV001498970; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466592 | 78466592 | | | 78466592 | - | | |
NM_016373.4(WWOX):c.1003T>A (p.Trp335Arg) | 51741 | WWOX | Uncertain significance | -1 | RCV002923534; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466596 | 78466596 | | | NC_000016.9:g.78466596T>A | - | | |
NM_016373.4(WWOX):c.1010T>C (p.Val337Ala) | 51741 | WWOX | Uncertain significance | 1170717426 | RCV001203951; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466603 | 78466603 | | | 16:g.78466603T>C | - | | |
NM_016373.4(WWOX):c.1011G>C (p.Val337=) | 51741 | WWOX | Likely benign | 773816992 | RCV001440887; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466604 | 78466604 | | | 16:g.78466604G>C | - | | |
NM_016373.4(WWOX):c.1015A>C (p.Thr339Pro) | 51741 | WWOX | Uncertain significance | 1429449710 | RCV001970719; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466608 | 78466608 | | | 78466608 | - | | |
NM_016373.4(WWOX):c.1016C>T (p.Thr339Ile) | 51741 | WWOX | Uncertain significance | -1 | RCV002614691; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466609 | 78466609 | | | NC_000016.9:g.78466609C>T | - | | |
NM_016373.4(WWOX):c.1021C>A (p.Leu341Met) | 51741 | WWOX | Likely benign | 201616456 | RCV000687652|RCV001552405; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 78466614 | 78466614 | | | 16:g.78466614C>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1021C>T (p.Leu341=) | 51741 | WWOX | Likely benign | 201616456 | RCV001397180; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466614 | 78466614 | | | 16:g.78466614C>T | - | | |
NM_016373.4(WWOX):c.1029C>G (p.Thr343=) | 51741 | WWOX | Likely benign | 752273047 | RCV000417821|RCV000650192; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466622 | 78466622 | | | 16:g.78466622C>G | ClinGen:CA8183606 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1035G>A (p.Ala345=) | 51741 | WWOX | Likely benign | 189695070 | RCV000420179|RCV000538336; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466628 | 78466628 | | | 16:g.78466628G>A | ClinGen:CA8183609 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1035del (p.Arg346fs) | 51741 | WWOX | Pathogenic | -1 | RCV002853268; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466628 | 78466628 | | | NC_000016.9:g.78466628del | - | | |
NM_016373.4(WWOX):c.1038G>T (p.Arg346Ser) | 51741 | WWOX | Uncertain significance | 781040616 | RCV000823052; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466631 | 78466631 | | | 16:g.78466631G>T | - | | |
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) | 51741 | WWOX | Uncertain significance | 200699154 | RCV000690150|RCV000764081|RCV001542414; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:0 | 16 | 78466632 | 78466632 | | | NC_000016.9:g.78466632C>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1039C>G (p.Pro347Ala) | 51741 | WWOX | Uncertain significance | 200699154 | RCV000791853; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466632 | 78466632 | | | 16:g.78466632C>G | - | | |
NM_016373.4(WWOX):c.1043del (p.Phe348fs) | 51741 | WWOX | Pathogenic/Likely pathogenic | 1064795117 | RCV000484968|RCV001381454; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466634 | 78466634 | | | NC_000016.9:g.78466636del | ClinGen:CA16620274 | | |
NM_016373.4(WWOX):c.1042T>G (p.Phe348Val) | 51741 | WWOX | Uncertain significance | 768904294 | RCV001346955; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466635 | 78466635 | | | 78466635 | - | | |
NM_016373.4(WWOX):c.1047C>A (p.Thr349=) | 51741 | WWOX | Likely benign | 940453353 | RCV001493016; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466640 | 78466640 | | | 78466640 | - | | |
NM_016373.4(WWOX):c.1048A>G (p.Lys350Glu) | 51741 | WWOX | Uncertain significance | 2151386361 | RCV001967375; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466641 | 78466641 | | | 78466641 | - | | |
NM_016373.4(WWOX):c.1050G>A (p.Lys350=) | 51741 | WWOX | Likely benign | 2151386362 | RCV002170950; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466643 | 78466643 | | | 78466643 | - | | |
NM_016373.4(WWOX):c.1051T>C (p.Ser351Pro) | 51741 | WWOX | Uncertain significance | 1266850996 | RCV001049109; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466644 | 78466644 | | | 16:g.78466644T>C | - | | |
NM_016373.4(WWOX):c.1052C>T (p.Ser351Phe) | 51741 | WWOX | Uncertain significance | -1 | RCV003031325; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466645 | 78466645 | | | NC_000016.9:g.78466645C>T | - | | |
NM_016373.4(WWOX):c.1054A>G (p.Met352Val) | 51741 | WWOX | Uncertain significance | 575317950 | RCV001324729; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466647 | 78466647 | | | 78466647 | - | | |
NM_016373.4(WWOX):c.1055T>C (p.Met352Thr) | 51741 | WWOX | Uncertain significance | -1 | RCV003118006; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 78466648 | 78466648 | | | NC_000016.9:g.78466648T>C | - | | |
NM_016373.4(WWOX):c.1056+13C>A | 51741 | WWOX | Likely benign | -1 | RCV002839493; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466662 | 78466662 | | | NC_000016.9:g.78466662C>A | - | | |
NM_016373.4(WWOX):c.1056+18G>A | 51741 | WWOX | Likely benign | -1 | RCV002736352; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466667 | 78466667 | | | NC_000016.9:g.78466667G>A | - | | |
NM_016373.4(WWOX):c.1056+20C>T | 51741 | WWOX | Likely benign | -1 | RCV003084175; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 78466669 | 78466669 | | | NC_000016.9:g.78466669C>T | - | | |
NM_016373.4(WWOX):c.1056+191744T>G | 51741 | WWOX | Benign | 2548861 | RCV000650210|RCV001653971; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900 | 16 | 78658393 | 78658393 | | | 16:g.78658393T>G | ClinGen:CA14307570 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1057-22_1057-19del | 51741 | WWOX | Likely benign | -1 | RCV002858482; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245482 | 79245485 | | | NC_000016.9:g.79245483_79245486del | - | | |
NM_016373.4(WWOX):c.1057-22_1057-20del | 51741 | WWOX | Likely benign | 2150867224 | RCV002190817; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245483 | 79245485 | | | 79245482 | - | | |
NM_016373.4(WWOX):c.1057-17_1057-14del | 51741 | WWOX | Likely benign | 750753794 | RCV002158833; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245484 | 79245487 | | | 79245483 | - | | |
NM_016373.4(WWOX):c.1057-18_1057-17dup | 51741 | WWOX | Likely benign | 1412456452 | RCV000616759|RCV002064037; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245485 | 79245486 | | | NC_000016.9:g.79245487_79245488dup | ClinGen:CA624015071 | CN169374 not specified; | |
NC_000016.10:g.(?_79211588)_(79211816_?)del | 51741 | WWOX | Pathogenic | -1 | RCV000814620; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245485 | 79245713 | | | | - | | |
NM_016373.4(WWOX):c.1057-20C>T | 51741 | WWOX | Likely benign | -1 | RCV003068086; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245485 | 79245485 | | | NC_000016.9:g.79245485C>T | - | | |
NM_016373.4(WWOX):c.1057-18T>G | 51741 | WWOX | Likely benign | 780546419 | RCV002143952; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245487 | 79245487 | | | 79245487 | - | | |
NM_016373.4(WWOX):c.1057-14T>C | 51741 | WWOX | Benign | 66481974 | RCV000247690|RCV001515358|RCV002244634|RCV002244635; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428 | 16 | 79245491 | 79245491 | | | NC_000016.9:g.79245491T>C | ClinGen:CA8183715 | CN169374 not specified; | |
NM_016373.4(WWOX):c.1057-9_1057-6dup | 51741 | WWOX | Uncertain significance | 2150867300 | RCV001926804; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245495 | 79245496 | | | 79245495 | - | | |
NM_016373.4(WWOX):c.1057-10G>C | 51741 | WWOX | Likely benign | -1 | RCV002599735; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245495 | 79245495 | | | NC_000016.9:g.79245495G>C | - | | |
NM_016373.4(WWOX):c.1057-4C>T | 51741 | WWOX | Likely benign | 555716977 | RCV001722663|RCV002063213; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245501 | 79245501 | | | 16:g.79245501C>T | ClinGen:CA8183722 | CN169374 not specified; | |
NM_016373.4(WWOX):c.1057-3C>T | 51741 | WWOX | Uncertain significance | 143302415 | RCV000692946; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245502 | 79245502 | | | 16:g.79245502C>T | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1057-2A>G | 51741 | WWOX | Uncertain significance | 1233583078 | RCV001940463; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245503 | 79245503 | | | 79245503 | - | | |
NM_016373.4(WWOX):c.1057C>A (p.Gln353Lys) | 51741 | WWOX | Uncertain significance | 770155582 | RCV001295210; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245505 | 79245505 | | | 79245505 | - | | |
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter) | 51741 | WWOX | Pathogenic | 770155582 | RCV001895441; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245505 | 79245505 | | | 79245505 | - | | |
NM_016373.4(WWOX):c.1059A>C (p.Gln353His) | 51741 | WWOX | Uncertain significance | -1 | RCV002866480; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245507 | 79245507 | | | NC_000016.9:g.79245507A>C | - | | |
NM_016373.4(WWOX):c.1063G>A (p.Gly355Arg) | 51741 | WWOX | Uncertain significance | 2051753978 | RCV001315818; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245511 | 79245511 | | | 79245511 | - | | |
NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr) | 51741 | WWOX | Uncertain significance | 767667847 | RCV000429731|RCV000553103; | N | MedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245514 | 79245514 | | | 16:g.79245514G>A | ClinGen:CA8183728 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1067C>T (p.Ala356Val) | 51741 | WWOX | Uncertain significance | -1 | RCV003028994; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245515 | 79245515 | | | NC_000016.9:g.79245515C>T | - | | |
NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr) | 51741 | WWOX | Uncertain significance | -1 | RCV002580597; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245517 | 79245517 | | | NC_000016.9:g.79245517G>A | - | | |
NM_016373.4(WWOX):c.1072A>C (p.Thr358Pro) | 51741 | WWOX | Uncertain significance | 1567624901 | RCV000706593; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245520 | 79245520 | | | 16:g.79245520A>C | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1073C>T (p.Thr358Ile) | 51741 | WWOX | Uncertain significance | 1555547940 | RCV000650201; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245521 | 79245521 | | | 16:g.79245521C>T | ClinGen:CA396536963 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1073C>G (p.Thr358Ser) | 51741 | WWOX | Uncertain significance | 1555547940 | RCV001888825; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245521 | 79245521 | | | 79245521 | - | | |
NM_016373.4(WWOX):c.1077C>T (p.Thr359=) | 51741 | WWOX | Likely benign | 150912992 | RCV000432443|RCV001457219; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245525 | 79245525 | | | 16:g.79245525C>T | ClinGen:CA8183729 | CN169374 not specified; | |
NM_016373.4(WWOX):c.1077C>G (p.Thr359=) | 51741 | WWOX | Likely benign | 150912992 | RCV002139062; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245525 | 79245525 | | | 79245525 | - | | |
NM_016373.4(WWOX):c.1078G>A (p.Val360Met) | 51741 | WWOX | Uncertain significance | 200019508 | RCV000650198|RCV003162977; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | 16 | 79245526 | 79245526 | | | 16:g.79245526G>A | ClinGen:CA8183730 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1084T>C (p.Cys362Arg) | 51741 | WWOX | Uncertain significance | 2051754918 | RCV001352381; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245532 | 79245532 | | | 79245532 | - | | |
NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 778218106 | RCV001351418|RCV001586144; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202 | 16 | 79245533 | 79245533 | | | 79245533 | - | | |
NM_016373.4(WWOX):c.1086T>C (p.Cys362=) | 51741 | WWOX | Likely benign | 755448649 | RCV001414125; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245534 | 79245534 | | | 79245534 | - | | |
NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly) | 51741 | WWOX | Uncertain significance | 2051755192 | RCV001962703; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245536 | 79245536 | | | 79245536 | - | | |
NM_016373.4(WWOX):c.1102C>T (p.Leu368=) | 51741 | WWOX | Likely benign | -1 | RCV002923100; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245550 | 79245550 | | | | - | | |
NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg) | 51741 | WWOX | Uncertain significance | -1 | RCV002755916; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245551 | 79245551 | | | NC_000016.9:g.79245551T>G | - | | |
NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs) | 51741 | WWOX | Pathogenic | 2051756247 | RCV001232173; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245552 | 79245561 | | | 16:g.79245552_79245561del | - | | |
NM_016373.4(WWOX):c.1107G>A (p.Glu369=) | 51741 | WWOX | Likely benign | 369673368 | RCV001504073; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245555 | 79245555 | | | 16:g.79245555G>A | - | | |
NM_016373.4(WWOX):c.1108G>A (p.Gly370Ser) | 51741 | WWOX | Uncertain significance | 770628801 | RCV001327899; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245556 | 79245556 | | | 79245556 | - | | |
NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp) | 51741 | WWOX | Uncertain significance | 780816542 | RCV001977223; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245557 | 79245557 | | | 79245557 | - | | |
NM_016373.4(WWOX):c.1110T>A (p.Gly370=) | 51741 | WWOX | Likely benign | 901897952 | RCV001393621; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245558 | 79245558 | | | 16:g.79245558T>A | - | | |
NM_016373.4(WWOX):c.1110T>G (p.Gly370=) | 51741 | WWOX | Likely benign | -1 | RCV002577325; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245558 | 79245558 | | | | - | | |
NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg) | 51741 | WWOX | Uncertain significance | -1 | RCV002298341; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245560 | 79245560 | | | 79245560 | - | | |
NM_016373.4(WWOX):c.1113G>T (p.Leu371=) | 51741 | WWOX | Likely benign | 2150867604 | RCV001422204; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245561 | 79245561 | | | 79245561 | - | | |
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 587777127 | RCV000519379|RCV000703935|RCV002252153; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282| | 16 | 79245562 | 79245562 | | | 16:g.79245562G>T | ClinGen:CA396537070 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg) | 51741 | WWOX | Uncertain significance | 587777127 | RCV001891133; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245562 | 79245562 | | | 79245562 | - | | |
NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu) | 51741 | WWOX | Uncertain significance | 1064793798 | RCV000480798|RCV000650195; | N | MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245563 | 79245563 | | | 16:g.79245563G>A | ClinGen:CA16620275 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1117G>A (p.Gly373Arg) | 51741 | WWOX | Uncertain significance | 1400576596 | RCV001349756; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245565 | 79245565 | | | 79245565 | - | | |
NM_016373.4(WWOX):c.1118G>T (p.Gly373Val) | 51741 | WWOX | Uncertain significance | 769877812 | RCV000811373; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245566 | 79245566 | | | 16:g.79245566G>T | - | | |
NM_016373.4(WWOX):c.1119G>C (p.Gly373=) | 51741 | WWOX | Likely benign | -1 | RCV002858721; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245567 | 79245567 | | | | - | | |
NM_016373.4(WWOX):c.1122G>A (p.Met374Ile) | 51741 | WWOX | Uncertain significance | 775460117 | RCV001954905; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245570 | 79245570 | | | 79245570 | - | | |
NM_016373.4(WWOX):c.1125C>T (p.Tyr375=) | 51741 | WWOX | Likely benign | 372703745 | RCV001476915; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245573 | 79245573 | | | 16:g.79245573C>T | - | | |
NM_016373.4(WWOX):c.1126T>C (p.Phe376Leu) | 51741 | WWOX | Uncertain significance | 1474278988 | RCV001237882; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245574 | 79245574 | | | 16:g.79245574T>C | - | | |
NM_016373.4(WWOX):c.1128C>T (p.Phe376=) | 51741 | WWOX | Likely benign | 1417388410 | RCV002098259; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245576 | 79245576 | | | 79245576 | - | | |
NM_016373.4(WWOX):c.1131C>A (p.Asn377Lys) | 51741 | WWOX | Uncertain significance | 377129275 | RCV000650203|RCV003156275; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 79245579 | 79245579 | | | 16:g.79245579C>A | ClinGen:CA8183749 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1132_1133delinsTG (p.Asn378Cys) | 51741 | WWOX | Uncertain significance | 2051758116 | RCV001040848; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245580 | 79245581 | | | NC_000016.9:g.79245580_79245581delinsTG | - | | |
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) | 51741 | WWOX | Benign/Likely benign | 201088847 | RCV000443836|RCV000526819|RCV000602793|RCV002244894|RCV002244895|RCV002502527|RCV003333985; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428 | 16 | 79245582 | 79245582 | | | 16:g.79245582C>T | ClinGen:CA8183753 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1134C>G (p.Asn378Lys) | 51741 | WWOX | Uncertain significance | 201088847 | RCV001359149; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245582 | 79245582 | | | 79245582 | - | | |
NM_016373.4(WWOX):c.1139G>A (p.Cys380Tyr) | 51741 | WWOX | Uncertain significance | 758746365 | RCV000658209|RCV000686392; | N | MedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245587 | 79245587 | | | 16:g.79245587G>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) | 51741 | WWOX | Benign/Likely benign | 200461412 | RCV000224270|RCV000437104|RCV001081219|RCV002243897|RCV002243898; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162 | 16 | 79245589 | 79245589 | | | 16:g.79245589C>T | ClinGen:CA8183758 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1141C>A (p.Arg381Ser) | 51741 | WWOX | Uncertain significance | 200461412 | RCV001990292; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245589 | 79245589 | | | 79245589 | - | | |
NM_016373.4(WWOX):c.1142G>A (p.Arg381His) | 51741 | WWOX | Likely benign | 202002431 | RCV000460537|RCV001252635|RCV001569721; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:00012 | 16 | 79245590 | 79245590 | | | NC_000016.9:g.79245590G>A | ClinGen:CA8183759 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1142G>T (p.Arg381Leu) | 51741 | WWOX | Uncertain significance | 202002431 | RCV000650204; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245590 | 79245590 | | | NC_000016.9:g.79245590G>T | ClinGen:CA396537135 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1142G>C (p.Arg381Pro) | 51741 | WWOX | Uncertain significance | 202002431 | RCV002007628; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245590 | 79245590 | | | 79245590 | - | | |
NM_016373.4(WWOX):c.1143C>T (p.Arg381=) | 51741 | WWOX | Likely benign | 1427739406 | RCV001492624|RCV001698038; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 79245591 | 79245591 | | | 16:g.79245591C>T | ClinGen:CA396537138 | CN169374 not specified; | |
NM_016373.4(WWOX):c.1145G>A (p.Cys382Tyr) | 51741 | WWOX | Uncertain significance | 199585408 | RCV001216959|RCV003259162; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | 16 | 79245593 | 79245593 | | | 16:g.79245593G>A | - | | |
NM_016373.4(WWOX):c.1146C>T (p.Cys382=) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 780939546 | RCV000427908|RCV000695560|RCV001821181; | N | MedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374 | 16 | 79245594 | 79245594 | | | 16:g.79245594C>T | ClinGen:CA8183761 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1148T>C (p.Met383Thr) | 51741 | WWOX | Uncertain significance | 1567625134 | RCV001893186; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245596 | 79245596 | | | 79245596 | - | | |
NM_016373.4(WWOX):c.1150C>T (p.Pro384Ser) | 51741 | WWOX | Uncertain significance | 544760115 | RCV000819051; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245598 | 79245598 | | | 16:g.79245598C>T | - | | |
NM_016373.4(WWOX):c.1151C>G (p.Pro384Arg) | 51741 | WWOX | Uncertain significance | 2051759512 | RCV001048983; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245599 | 79245599 | | | 16:g.79245599C>G | - | | |
NM_016373.4(WWOX):c.1155A>C (p.Ser385=) | 51741 | WWOX | Likely benign | 1414101968 | RCV000650216; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245603 | 79245603 | | | 16:g.79245603A>C | ClinGen:CA396537167 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1156C>T (p.Pro386Ser) | 51741 | WWOX | Uncertain significance | -1 | RCV002297510; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245604 | 79245604 | | | 79245604 | - | | |
NM_016373.4(WWOX):c.1157C>T (p.Pro386Leu) | 51741 | WWOX | Uncertain significance | 1351213477 | RCV001227598; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245605 | 79245605 | | | 16:g.79245605C>T | - | | |
NM_016373.4(WWOX):c.1158A>G (p.Pro386=) | 51741 | WWOX | Likely benign | 755586346 | RCV001463482; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245606 | 79245606 | | | NC_000016.9:g.79245606A>G | ClinGen:CA8183764 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1160A>G (p.Glu387Gly) | 51741 | WWOX | Uncertain significance | 1316600993 | RCV001323944; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245608 | 79245608 | | | 79245608 | - | | |
NM_016373.4(WWOX):c.1162G>C (p.Ala388Pro) | 51741 | WWOX | Uncertain significance | 1060502729 | RCV000476559; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245610 | 79245610 | | | NC_000016.9:g.79245610G>C | ClinGen:CA16615004 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1165C>G (p.Gln389Glu) | 51741 | WWOX | Uncertain significance | 1484856529 | RCV001243203; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245613 | 79245613 | | | 16:g.79245613C>G | - | | |
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 1484856529 | RCV001867230|RCV002307770|RCV003235606; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MedGen:CN169374 | 16 | 79245613 | 79245613 | | | 79245613 | - | | |
NM_016373.4(WWOX):c.1170C>T (p.Ser390=) | 51741 | WWOX | Likely benign | 372635911 | RCV000475867|RCV001584188; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202 | 16 | 79245618 | 79245618 | | | NC_000016.9:g.79245618C>T | ClinGen:CA8183769 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1170C>A (p.Ser390Arg) | 51741 | WWOX | Uncertain significance | 372635911 | RCV000467962; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245618 | 79245618 | | | NC_000016.9:g.79245618C>A | ClinGen:CA16615013 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1170C>G (p.Ser390Arg) | 51741 | WWOX | Uncertain significance | 372635911 | RCV000688829; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245618 | 79245618 | | | NC_000016.9:g.79245618C>G | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1171G>A (p.Glu391Lys) | 51741 | WWOX | Uncertain significance | 375757102 | RCV000650208; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245619 | 79245619 | | | NC_000016.9:g.79245619G>A | ClinGen:CA8183771 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1171G>C (p.Glu391Gln) | 51741 | WWOX | Uncertain significance | 375757102 | RCV001922098; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245619 | 79245619 | | | 79245619 | - | | |
NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly) | 51741 | WWOX | Uncertain significance | 369959670 | RCV001585939|RCV001040398; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245620 | 79245620 | | | 16:g.79245620A>G | - | | |
NM_016373.4(WWOX):c.1175A>T (p.Glu392Val) | 51741 | WWOX | Uncertain significance | 1287638259 | RCV001941169; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245623 | 79245623 | | | 79245623 | - | | |
NM_016373.4(WWOX):c.1176G>T (p.Glu392Asp) | 51741 | WWOX | Uncertain significance | 763482100 | RCV002009820; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245624 | 79245624 | | | 79245624 | - | | |
NM_016373.4(WWOX):c.1179_1210del (p.Ala394fs) | 51741 | WWOX | Uncertain significance | 1064792969 | RCV000464767; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245626 | 79245657 | | | NC_000016.9:g.79245627_79245658del | ClinGen:CA16615008 | | |
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 139253468 | RCV000466359|RCV001080806|RCV002523319; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 79245626 | 79245626 | | | NC_000016.9:g.79245626C>T | ClinGen:CA8183777 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1178C>G (p.Thr393Arg) | 51741 | WWOX | Uncertain significance | -1 | RCV002890863; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245626 | 79245626 | | | NC_000016.9:g.79245626C>G | - | | |
NM_016373.4(WWOX):c.1179G>A (p.Thr393=) | 51741 | WWOX | Likely benign | 376293017 | RCV000438732|RCV000468158; | N | MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245627 | 79245627 | | | 16:g.79245627G>A | ClinGen:CA8183778 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr) | 51741 | WWOX | Uncertain significance | 767286260 | RCV000687773|RCV002473105; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202 | 16 | 79245628 | 79245628 | | | NC_000016.9:g.79245628G>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1182C>G (p.Ala394=) | 51741 | WWOX | Likely benign | -1 | RCV002842241; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245630 | 79245630 | | | | - | | |
NM_016373.4(WWOX):c.1183C>G (p.Arg395Gly) | 51741 | WWOX | Uncertain significance | 750042007 | RCV001980814; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245631 | 79245631 | | | 79245631 | - | | |
NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp) | 51741 | WWOX | Uncertain significance | 750042007 | RCV002027323|RCV002548874; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 79245631 | 79245631 | | | 79245631 | - | | |
NM_016373.4(WWOX):c.1183C>A (p.Arg395=) | 51741 | WWOX | Likely benign | -1 | RCV002624639; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245631 | 79245631 | | | | - | | |
NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln) | 51741 | WWOX | Uncertain significance | 373148311 | RCV000799565|RCV001759520; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202 | 16 | 79245632 | 79245632 | | | 16:g.79245632G>A | - | | |
NM_016373.4(WWOX):c.1185G>C (p.Arg395=) | 51741 | WWOX | Likely benign | 1296581246 | RCV001570577|RCV002569049; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245633 | 79245633 | | | 79245633 | - | | |
NM_016373.4(WWOX):c.1188C>A (p.Thr396=) | 51741 | WWOX | Likely benign | 923268639 | RCV000542127; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245636 | 79245636 | | | 16:g.79245636C>A | ClinGen:CA284131614 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1191G>C (p.Leu397=) | 51741 | WWOX | Likely benign | 749223740 | RCV002540968; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245639 | 79245639 | | | 16:g.79245639G>C | - | | |
NM_016373.4(WWOX):c.1195G>A (p.Ala399Thr) | 51741 | WWOX | Uncertain significance | 375970162 | RCV001247966; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245643 | 79245643 | | | 16:g.79245643G>A | - | | |
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val) | 51741 | WWOX | Uncertain significance | 200815431 | RCV000714204|RCV001057217|RCV002532966; | N | MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123 | 16 | 79245644 | 79245644 | | | NC_000016.9:g.79245644C>T | - | | |
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) | 51741 | WWOX | Benign/Likely benign | 376935572 | RCV000714205|RCV001082606|RCV002244903|RCV002244902; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:2842 | 16 | 79245645 | 79245645 | | | 16:g.79245645G>A | ClinGen:CA8183787 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1197G>T (p.Ala399=) | 51741 | WWOX | Likely benign | 376935572 | RCV000608413|RCV001458527; | N | MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245645 | 79245645 | | | 16:g.79245645G>T | ClinGen:CA8183788 | CN169374 not specified; | |
NM_016373.4(WWOX):c.1203C>T (p.Ser401=) | 51741 | WWOX | Likely benign | 201428060 | RCV000466131|RCV001720175|RCV001821177; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MedGen:CN169374 | 16 | 79245651 | 79245651 | | | 16:g.79245651C>T | ClinGen:CA8183790 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1203C>G (p.Ser401Arg) | 51741 | WWOX | Uncertain significance | -1 | RCV003088262; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245651 | 79245651 | | | NC_000016.9:g.79245651C>G | - | | |
NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys) | 51741 | WWOX | Uncertain significance | 200839945 | RCV000523943|RCV000552320; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245652 | 79245652 | | | 16:g.79245652G>A | ClinGen:CA8183792 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1204G>C (p.Glu402Gln) | 51741 | WWOX | Uncertain significance | 200839945 | RCV001302038|RCV002543095; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 79245652 | 79245652 | | | 79245652 | - | | |
NM_016373.4(WWOX):c.1205A>G (p.Glu402Gly) | 51741 | WWOX | Uncertain significance | 2051763292 | RCV002050608; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245653 | 79245653 | | | 79245653 | - | | |
NM_016373.4(WWOX):c.1206G>C (p.Glu402Asp) | 51741 | WWOX | Uncertain significance | 923748427 | RCV001347310; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245654 | 79245654 | | | 79245654 | - | | |
NM_016373.4(WWOX):c.1206G>A (p.Glu402=) | 51741 | WWOX | Likely benign | 923748427 | RCV002083864; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245654 | 79245654 | | | 79245654 | - | | |
NM_016373.4(WWOX):c.1209G>A (p.Arg403=) | 51741 | WWOX | Likely benign | 764726398 | RCV002090934; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245657 | 79245657 | | | 79245657 | - | | |
NM_016373.4(WWOX):c.1216C>T (p.Gln406Ter) | 51741 | WWOX | Uncertain significance | 1197462916 | RCV001040374; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245664 | 79245664 | | | 16:g.79245664C>T | - | | |
NM_016373.4(WWOX):c.1216C>G (p.Gln406Glu) | 51741 | WWOX | Uncertain significance | 1197462916 | RCV001876505; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245664 | 79245664 | | | 79245664 | - | | |
NM_016373.4(WWOX):c.1218A>C (p.Gln406His) | 51741 | WWOX | Uncertain significance | 767985798 | RCV001218845; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245666 | 79245666 | | | 16:g.79245666A>C | - | | |
NM_016373.4(WWOX):c.1218A>G (p.Gln406=) | 51741 | WWOX | Likely benign | -1 | RCV002937495; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245666 | 79245666 | | | | - | | |
NM_016373.4(WWOX):c.1219_1220inv (p.Glu407Ser) | 51741 | WWOX | Uncertain significance | -1 | RCV001243439; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245667 | 79245668 | | | NC_000016.9:g.79245667_79245668inv | - | | |
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) | 51741 | WWOX | Uncertain significance | 144234059 | RCV000656056|RCV000807071|RCV003128810; | N | MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900 | 16 | 79245670 | 79245670 | | | NC_000016.9:g.79245670C>T | ClinGen:CA8183799 | CN200685 Rolandic epilepsy; | |
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) | 51741 | WWOX | Uncertain significance | 765857107 | RCV000691014|RCV002477554; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:00 | 16 | 79245671 | 79245671 | | | NC_000016.9:g.79245671G>A | - | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu) | 51741 | WWOX | Uncertain significance | 765857107 | RCV002244208|RCV003093941|RCV003250475; | N | MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123 | 16 | 79245671 | 79245671 | | | 79245671 | - | | |
NM_016373.4(WWOX):c.1226T>C (p.Leu409Pro) | 51741 | WWOX | Uncertain significance | 368397011 | RCV001945742; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245674 | 79245674 | | | 79245674 | - | | |
NM_016373.4(WWOX):c.1227T>C (p.Leu409=) | 51741 | WWOX | Likely benign | 1370851633 | RCV002172922; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245675 | 79245675 | | | 79245675 | - | | |
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys) | 51741 | WWOX | Conflicting interpretations of pathogenicity | 76204496 | RCV000650211|RCV001722560|RCV001815005; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MedGen:CN169374 | 16 | 79245676 | 79245676 | | | 16:g.79245676G>T | ClinGen:CA8183802 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del) | 51741 | WWOX | Uncertain significance | 770788315 | RCV000415436|RCV000695511; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245677 | 79245679 | | | NC_000016.9:g.79245679_79245681del | ClinGen:CA8183803 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1230C>G (p.Gly410=) | 51741 | WWOX | Likely benign | 778834456 | RCV001428261; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245678 | 79245678 | | | 79245678 | - | | |
NM_016373.4(WWOX):c.1232G>C (p.Ser411Thr) | 51741 | WWOX | Uncertain significance | -1 | RCV003050456; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245680 | 79245680 | | | NC_000016.9:g.79245680G>C | - | | |
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr) | 51741 | WWOX | Benign | 117065412 | RCV000234375|RCV000427849|RCV000714206|RCV002243908|RCV002243909; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162 | 16 | 79245686 | 79245686 | | | 16:g.79245686C>A | ClinGen:CA8183807 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1238C>G (p.Ser413Cys) | 51741 | WWOX | Uncertain significance | 117065412 | RCV000530623; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245686 | 79245686 | | | 16:g.79245686C>G | ClinGen:CA8183808 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1240_*36del (p.Gly414_Ter415del) | 51741 | WWOX | Uncertain significance | 2051765287 | RCV001035387; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245686 | 79245727 | | | 16:g.79245686_79245727del | - | | |
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) | 51741 | WWOX | Benign/Likely benign | 199576434 | RCV000244339|RCV000714207|RCV001084018|RCV002243911|RCV002243910; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:6143 | 16 | 79245687 | 79245687 | | | NC_000016.9:g.79245687C>T | ClinGen:CA8183809 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1239C>G (p.Ser413=) | 51741 | WWOX | Likely benign | 199576434 | RCV000650215; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245687 | 79245687 | | | NC_000016.9:g.79245687C>G | ClinGen:CA8183810 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser) | 51741 | WWOX | Uncertain significance | 201606637 | RCV000519792|RCV000545336; | N | MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245688 | 79245688 | | | 16:g.79245688G>A | ClinGen:CA8183811 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; | |
NM_016373.4(WWOX):c.1242C>T (p.Gly414=) | 51741 | WWOX | Likely benign | 557367276 | RCV002199129; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282 | 16 | 79245690 | 79245690 | | | 79245690 | - | | |
NM_016373.4(WWOX):c.1242del (p.Ter415LysextTer?) | 51741 | WWOX | Uncertain significance | -1 | RCV002828502; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245690 | 79245690 | | | NC_000016.9:g.79245690del | - | | |
NM_016373.4(WWOX):c.1244A>C (p.Ter415Ser) | 51741 | WWOX | Uncertain significance | 2150868322 | RCV001986987; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245692 | 79245692 | | | 79245692 | - | | |
NM_016373.4(WWOX):c.1245A>C (p.Ter415Tyr) | 51741 | WWOX | Uncertain significance | -1 | RCV003007893; | N | MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245693 | 79245693 | | | NC_000016.9:g.79245693A>C | - | | |
NM_016373.4(WWOX):c.*187_*190dup | 51741 | WWOX | Uncertain significance | 1597489135 | RCV000989642; | N | MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | 16 | 79245879 | 79245880 | | | 16:g.79245879_79245880insTATC | - | | |