Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000002.11:g.(?_127804599)_(127865903_?)del | 274 | BIN1 | Uncertain significance | -1 | RCV001919174; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127804599 | 127865903 | | | -1 | - | | |
NM_139343.2(BIN1):c.*501G>A | 274 | BIN1 | Uncertain significance | 77059199 | RCV000272775; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805601 | 127805601 | | | NC_000002.11:g.127805601C>T | ClinGen:CA10612163 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.*479del | 274 | BIN1 | Uncertain significance | 367627116 | RCV000330205; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805623 | 127805623 | | | NC_000002.11:g.127805632del | ClinGen:CA10611111 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.*470A>C | 274 | BIN1 | Uncertain significance | 984385783 | RCV001132728; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805632 | 127805632 | | | 2:g.127805632T>G | - | | |
NM_139343.3(BIN1):c.*449G>A | 274 | BIN1 | Uncertain significance | 369704619 | RCV000368573; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805653 | 127805653 | | | NC_000002.11:g.127805653C>T | ClinGen:CA10611112 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.*418C>T | 274 | BIN1 | Uncertain significance | 779551565 | RCV001136139; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805684 | 127805684 | | | 2:g.127805684G>A | - | | |
NM_139343.3(BIN1):c.*413G>A | 274 | BIN1 | Uncertain significance | 886054829 | RCV000276421; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805689 | 127805689 | | | NC_000002.11:g.127805689C>T | ClinGen:CA10612028 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.*303A>G | 274 | BIN1 | Uncertain significance | 766515815 | RCV001136140; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805799 | 127805799 | | | 2:g.127805799T>C | - | | |
NM_139343.3(BIN1):c.*301C>T | 274 | BIN1 | Uncertain significance | 886054830 | RCV000334087; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805801 | 127805801 | | | NC_000002.11:g.127805801G>A | ClinGen:CA10612036 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.*247G>T | 274 | BIN1 | Uncertain significance | 1334404831 | RCV001136141; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805855 | 127805855 | | | 2:g.127805855C>A | - | | |
NM_139343.3(BIN1):c.*243T>G | 274 | BIN1 | Uncertain significance | 886054831 | RCV000372371; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805859 | 127805859 | | | NC_000002.11:g.127805859A>C | ClinGen:CA10612168 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.*214G>A | 274 | BIN1 | Uncertain significance | 886054832 | RCV000280095; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805888 | 127805888 | | | NC_000002.11:g.127805888C>T | ClinGen:CA10611114 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.*194C>T | 274 | BIN1 | Uncertain significance | 565856632 | RCV000318845; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127805908 | 127805908 | | | NC_000002.11:g.127805908G>A | ClinGen:CA10610710 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.*82C>T | 274 | BIN1 | Uncertain significance | 111649895 | RCV000375956; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806020 | 127806020 | | | NC_000002.11:g.127806020G>A | ClinGen:CA10611117 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.*82C>A | 274 | BIN1 | Benign/Likely benign | 111649895 | RCV001129155|RCV001551697; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127806020 | 127806020 | | | 2:g.127806020G>T | - | | |
NM_139343.3(BIN1):c.*55G>A | 274 | BIN1 | Uncertain significance | 886054833 | RCV000283741; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806047 | 127806047 | | | NC_000002.11:g.127806047C>T | ClinGen:CA10612169 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.*22C>T | 274 | BIN1 | Uncertain significance | 200108564 | RCV001129156; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806080 | 127806080 | | | 2:g.127806080G>A | - | | |
NC_000002.11:g.(?_127806092)_(127834292_?)dup | 274 | BIN1 | Uncertain significance | -1 | RCV000812689; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806092 | 127834292 | | | | - | | |
NM_139343.3(BIN1):c.*1C>T | 274 | BIN1 | Conflicting interpretations of pathogenicity | 770804438 | RCV001129157|RCV001704494; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127806101 | 127806101 | | | 2:g.127806101G>A | ClinGen:CA1856922 | CN169374 not specified; | |
NC_000002.11:g.(?_127806102)_(127864519_?)dup | 274 | BIN1 | Uncertain significance | -1 | RCV001925515; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806102 | 127864519 | | | -1 | - | | |
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu) | 274 | BIN1 | Uncertain significance | -1 | RCV003143789; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806106 | 127806106 | | | NC_000002.11:g.127806106G>A | - | | |
NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly) | 274 | BIN1 | Uncertain significance | 2104839547 | RCV001363597; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806113 | 127806113 | | | 127806113 | - | | |
NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile) | 274 | BIN1 | Uncertain significance | -1 | RCV002967141; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806118 | 127806118 | | | NC_000002.11:g.127806118G>A | - | | |
NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys) | 274 | BIN1 | Uncertain significance | 1042277527 | RCV001248193; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806128 | 127806128 | | | 2:g.127806128C>T | - | | |
NM_139343.3(BIN1):c.1755C>T (p.Pro585=) | 274 | BIN1 | Likely benign | -1 | RCV002886075; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806129 | 127806129 | | | | - | | |
NM_139343.3(BIN1):c.1752C>T (p.Phe584=) | 274 | BIN1 | Likely benign | 1422298151 | RCV001402914; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806132 | 127806132 | | | 2:g.127806132G>A | - | | |
NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser) | 274 | BIN1 | Uncertain significance | 1466748456 | RCV001316431; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806133 | 127806133 | | | 127806133 | - | | |
NM_139343.3(BIN1):c.1747G>A (p.Val583Ile) | 274 | BIN1 | Uncertain significance | 759691190 | RCV000702936; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806137 | 127806137 | | | NC_000002.11:g.127806137C>T | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys) | 274 | BIN1 | Uncertain significance | 147655157 | RCV000701208; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806143 | 127806143 | | | NC_000002.11:g.127806143G>A | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val) | 274 | BIN1 | Uncertain significance | 771368114 | RCV000824428; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806155 | 127806155 | | | 2:g.127806155G>C | - | | |
NM_139343.3(BIN1):c.1727A>T (p.Glu576Val) | 274 | BIN1 | Uncertain significance | 775119768 | RCV000341221; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806157 | 127806157 | | | 2:g.127806157T>A | ClinGen:CA1856931 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu) | 274 | BIN1 | Uncertain significance | 2104840053 | RCV001923292; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806157 | 127806158 | | | 127806157 | - | | |
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) | 274 | BIN1 | Likely pathogenic | 121909275 | RCV000008797; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806161 | 127806161 | | | 2:g.127806161T>A | ClinGen:CA119460,OMIM:601248.0003 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter) | 274 | BIN1 | Pathogenic | 587783343 | RCV000145341; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806171 | 127806171 | | | NC_000002.11:g.127806171C>T | ClinGen:CA171397 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu) | 274 | BIN1 | Uncertain significance | 587783342 | RCV001064999|RCV002554471; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MeSH:D030342,MedGen:C0950123 | 2 | 127806174 | 127806174 | | | 2:g.127806174G>C | - | | |
NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn) | 274 | BIN1 | Uncertain significance | 368983991 | RCV000527268; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806176 | 127806176 | | | NC_000002.11:g.127806176C>T | ClinGen:CA55335014 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1698G>A (p.Val566=) | 274 | BIN1 | Likely benign | 1398854153 | RCV001411140; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806186 | 127806186 | | | 127806186 | - | | |
NM_139343.3(BIN1):c.1696G>A (p.Val566Met) | 274 | BIN1 | Uncertain significance | 761759946 | RCV001328612; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806188 | 127806188 | | | 127806188 | - | | |
NM_139343.3(BIN1):c.1696G>T (p.Val566Leu) | 274 | BIN1 | Uncertain significance | 761759946 | RCV001345387; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806188 | 127806188 | | | 127806188 | - | | |
NM_139343.3(BIN1):c.1695C>A (p.Gly565=) | 274 | BIN1 | Likely benign | -1 | RCV002734983; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806189 | 127806189 | | | | - | | |
NM_139343.3(BIN1):c.1695C>T (p.Gly565=) | 274 | BIN1 | Likely benign | -1 | RCV002985575; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806189 | 127806189 | | | | - | | |
NM_139343.3(BIN1):c.1691T>C (p.Met564Thr) | 274 | BIN1 | Uncertain significance | 1682474004 | RCV001895621; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806193 | 127806193 | | | 127806193 | - | | |
NM_139343.3(BIN1):c.1675-7C>T | 274 | BIN1 | Conflicting interpretations of pathogenicity | 372449622 | RCV001129158; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127806216 | 127806216 | | | 2:g.127806216G>A | - | | |
NM_139343.3(BIN1):c.1674+56G>A | 274 | BIN1 | Benign | 7568161 | RCV000837723|RCV001553976; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127807941 | 127807941 | | | 2:g.127807941C>T | - | | |
NM_139343.3(BIN1):c.1674+20G>A | 274 | BIN1 | Benign | 374227714 | RCV002182078; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127807977 | 127807977 | | | 127807977 | - | | |
NM_139343.3(BIN1):c.1674+19C>T | 274 | BIN1 | Likely benign | -1 | RCV003068402; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127807978 | 127807978 | | | NC_000002.11:g.127807978G>A | - | | |
NM_139343.3(BIN1):c.1674+3G>T | 274 | BIN1 | Uncertain significance | 1420732725 | RCV001374125; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127807994 | 127807994 | | | 127807994 | - | | |
NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys) | 274 | BIN1 | Uncertain significance | 1682762039 | RCV001912829; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127807999 | 127807999 | | | 127807999 | - | | |
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val) | 274 | BIN1 | Uncertain significance | 774321875 | RCV001306635; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808001 | 127808001 | | | 127808001 | - | | |
NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu) | 274 | BIN1 | Uncertain significance | 1445898966 | RCV001341180; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808036 | 127808036 | | | 127808036 | - | | |
NM_139343.3(BIN1):c.1632T>G (p.Gly544=) | 274 | BIN1 | Likely benign | 937564049 | RCV001433276; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808039 | 127808039 | | | 2:g.127808039A>C | - | | |
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 143258043 | RCV000636916; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808042 | 127808042 | | | NC_000002.11:g.127808042A>C | ClinGen:CA1856963 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 138047593 | RCV000145339|RCV000553563|RCV002262752; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127808046 | 127808046 | | | 2:g.127808046T>C | ClinGen:CA171393 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1620G>T (p.Gln540His) | 274 | BIN1 | Uncertain significance | -1 | RCV003143791; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808051 | 127808051 | | | NC_000002.11:g.127808051C>A | - | | |
NM_139343.3(BIN1):c.1611C>T (p.Asp537=) | 274 | BIN1 | Benign/Likely benign | 142523172 | RCV000538787|RCV000609834|RCV001697022; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN169374|MedGen:C3661900 | 2 | 127808060 | 127808060 | | | NC_000002.11:g.127808060G>A | ClinGen:CA1856967 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1608A>G (p.Thr536=) | 274 | BIN1 | Likely benign | 746208232 | RCV000932638; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808063 | 127808063 | | | 2:g.127808063T>C | - | | |
NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys) | 274 | BIN1 | Uncertain significance | 773732601 | RCV001995117; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808064 | 127808064 | | | 127808064 | - | | |
NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile) | 274 | BIN1 | Uncertain significance | 773732601 | RCV001918577; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808064 | 127808064 | | | 127808064 | - | | |
NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser) | 274 | BIN1 | Uncertain significance | -1 | RCV003081489; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808070 | 127808070 | | | NC_000002.11:g.127808070G>C | - | | |
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) | 274 | BIN1 | Benign/Likely benign | 112318500 | RCV000145338|RCV000404410; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808076 | 127808076 | | | 2:g.127808076G>A | ClinGen:CA171391 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn) | 274 | BIN1 | Uncertain significance | 772786604 | RCV000636910; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808083 | 127808083 | | | NC_000002.11:g.127808083C>T | ClinGen:CA1856972 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1587C>T (p.His529=) | 274 | BIN1 | Likely benign | 144458131 | RCV000253210|RCV001460821; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808084 | 127808084 | | | 2:g.127808084G>A | ClinGen:CA1856973 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1580C>T (p.Ala527Val) | 274 | BIN1 | Uncertain significance | 2104859449 | RCV001886619; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808091 | 127808091 | | | 127808091 | - | | |
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) | 274 | BIN1 | Uncertain significance | 886043878 | RCV000352599|RCV000660519; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808094 | 127808094 | | | 2:g.127808094T>C | ClinGen:CA10606068 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1573-13G>A | 274 | BIN1 | Likely benign | -1 | RCV002923942; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808111 | 127808111 | | | NC_000002.11:g.127808111C>T | - | | |
NM_139343.3(BIN1):c.1573-14C>T | 274 | BIN1 | Likely benign | 760955602 | RCV000610318|RCV002066618; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808112 | 127808112 | | | 2:g.127808112G>A | ClinGen:CA1856979 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1573-18G>C | 274 | BIN1 | Benign | 12466912 | RCV000248429|RCV002058401; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808116 | 127808116 | | | 2:g.127808116C>G | ClinGen:CA1856980 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1573-19C>T | 274 | BIN1 | Likely benign | -1 | RCV002922451; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808117 | 127808117 | | | NC_000002.11:g.127808117G>A | - | | |
NM_139343.3(BIN1):c.1573-63C>T | 274 | BIN1 | Benign | 7558000 | RCV000837722|RCV001553977; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808161 | 127808161 | | | 2:g.127808161G>A | - | | |
NM_139343.3(BIN1):c.1573-72C>T | 274 | BIN1 | Benign | 7558001 | RCV000837721|RCV001553978; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808170 | 127808170 | | | 2:g.127808170G>A | - | | |
NM_139343.3(BIN1):c.1573-128T>A | 274 | BIN1 | Benign | 2071270 | RCV000837848|RCV001553979; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808226 | 127808226 | | | 2:g.127808226A>T | - | | |
NM_139343.3(BIN1):c.1560T>G (p.Gly520=) | 274 | BIN1 | Likely benign | 1573530113 | RCV001429229; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808390 | 127808390 | | | 2:g.127808390A>C | - | | |
NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg) | 274 | BIN1 | Uncertain significance | 765354438 | RCV001360688; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808392 | 127808392 | | | 127808392 | - | | |
NM_139343.3(BIN1):c.1557A>C (p.Pro519=) | 274 | BIN1 | Likely benign | -1 | RCV003066965; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808393 | 127808393 | | | | - | | |
NM_139343.3(BIN1):c.1548C>T (p.Asp516=) | 274 | BIN1 | Likely benign | 750869889 | RCV000929229; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808402 | 127808402 | | | 2:g.127808402G>A | - | | |
NM_139343.3(BIN1):c.1545G>T (p.Leu515Phe) | 274 | BIN1 | Uncertain significance | 763458588 | RCV002049874; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808405 | 127808405 | | | 127808405 | - | | |
NM_139343.3(BIN1):c.1541G>A (p.Arg514His) | 274 | BIN1 | Uncertain significance | 766615886 | RCV000803312; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808409 | 127808409 | | | 2:g.127808409C>T | - | | |
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys) | 274 | BIN1 | Benign/Likely benign | 148422103 | RCV001521153; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808410 | 127808410 | | | 127808410 | - | | |
NM_139343.3(BIN1):c.1538G>A (p.Gly513Glu) | 274 | BIN1 | Uncertain significance | 755351031 | RCV002021350; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808412 | 127808412 | | | 127808412 | - | | |
NM_139343.3(BIN1):c.1537G>A (p.Gly513Arg) | 274 | BIN1 | Uncertain significance | 777452575 | RCV001314951; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808413 | 127808413 | | | 127808413 | - | | |
NM_139343.3(BIN1):c.1536C>T (p.Ala512=) | 274 | BIN1 | Likely benign | 753612525 | RCV001458252; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808414 | 127808414 | | | 2:g.127808414G>A | - | | |
NM_139343.3(BIN1):c.1534G>A (p.Ala512Thr) | 274 | BIN1 | Uncertain significance | 756816560 | RCV001940144; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808416 | 127808416 | | | 127808416 | - | | |
NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu) | 274 | BIN1 | Uncertain significance | -1 | RCV002825516; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808418 | 127808418 | | | NC_000002.11:g.127808418C>T | - | | |
NM_139343.3(BIN1):c.1530T>C (p.Ser510=) | 274 | BIN1 | Likely benign | 778580743 | RCV002084125; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808420 | 127808420 | | | 127808420 | - | | |
NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser) | 274 | BIN1 | Uncertain significance | 745758782 | RCV001232956; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808425 | 127808425 | | | 2:g.127808425C>T | - | | |
NM_139343.3(BIN1):c.1524C>T (p.Gly508=) | 274 | BIN1 | Likely benign | -1 | RCV002999037; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808426 | 127808426 | | | | - | | |
NM_139343.3(BIN1):c.1516G>A (p.Val506Met) | 274 | BIN1 | Uncertain significance | 371571307 | RCV001316596; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808434 | 127808434 | | | 127808434 | - | | |
NM_139343.3(BIN1):c.1515C>G (p.Thr505=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 375583449 | RCV000286271; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808435 | 127808435 | | | 2:g.127808435G>C | ClinGen:CA10612037 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1515C>T (p.Thr505=) | 274 | BIN1 | Likely benign | 375583449 | RCV001502308|RCV003438841; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127808435 | 127808435 | | | 127808435 | - | | |
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu) | 274 | BIN1 | Uncertain significance | -1 | RCV002990861|RCV003143567; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808458 | 127808458 | | | NC_000002.11:g.127808458A>G | - | | |
NM_139343.3(BIN1):c.1483G>T (p.Val495Leu) | 274 | BIN1 | Uncertain significance | 1191840422 | RCV001301017; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808467 | 127808467 | | | 127808467 | - | | |
NM_139343.3(BIN1):c.1480G>A (p.Val494Met) | 274 | BIN1 | Uncertain significance | 144459969 | RCV001294513; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808470 | 127808470 | | | 127808470 | - | | |
NM_139343.3(BIN1):c.1479C>T (p.Val493=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 773313892 | RCV000343605; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808471 | 127808471 | | | 2:g.127808471G>A | ClinGen:CA1857022 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1478T>C (p.Val493Ala) | 274 | BIN1 | Uncertain significance | 1682847067 | RCV001070741; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808472 | 127808472 | | | 2:g.127808472A>G | - | | |
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 779756862 | RCV000406360; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808477 | 127808477 | | | 2:g.127808477A>G | ClinGen:CA1857023 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1472del (p.Pro491fs) | 274 | BIN1 | Uncertain significance | 1682848303 | RCV001295533; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808478 | 127808478 | | | 127808477 | - | | |
NM_139343.3(BIN1):c.1470del (p.Pro491fs) | 274 | BIN1 | Uncertain significance | -1 | RCV002846802; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808480 | 127808480 | | | NC_000002.11:g.127808481del | - | | |
NM_139343.3(BIN1):c.1464C>T (p.Ser488=) | 274 | BIN1 | Likely benign | 759941022 | RCV001475488; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808486 | 127808486 | | | 127808486 | - | | |
NM_139343.3(BIN1):c.1462-3C>T | 274 | BIN1 | Uncertain significance | 200384643 | RCV000700693; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808491 | 127808491 | | | 2:g.127808491G>A | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1462-13C>T | 274 | BIN1 | Likely benign | -1 | RCV002898730; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808501 | 127808501 | | | NC_000002.11:g.127808501G>A | - | | |
NM_139343.3(BIN1):c.1462-16G>A | 274 | BIN1 | Likely benign | 372302632 | RCV002146197; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808504 | 127808504 | | | 127808504 | - | | |
NM_139343.3(BIN1):c.1462-17C>T | 274 | BIN1 | Likely benign | 757885823 | RCV002091096; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808505 | 127808505 | | | 127808505 | - | | |
NM_139343.3(BIN1):c.1461+20G>A | 274 | BIN1 | Likely benign | 2104866729 | RCV002124145; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808710 | 127808710 | | | 127808710 | - | | |
NM_139343.3(BIN1):c.1461+16C>T | 274 | BIN1 | Likely benign | 2104866756 | RCV002171165; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808714 | 127808714 | | | 127808714 | - | | |
NM_139343.3(BIN1):c.1461+6A>T | 274 | BIN1 | Uncertain significance | 972060066 | RCV001876308; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808724 | 127808724 | | | 127808724 | - | | |
NM_139343.3(BIN1):c.1461+1G>A | 274 | BIN1 | Conflicting interpretations of pathogenicity | 764951306 | RCV001298358|RCV001532404; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127808729 | 127808729 | | | 127808729 | - | | |
NM_139343.3(BIN1):c.1461C>T (p.Ser487=) | 274 | BIN1 | Uncertain significance | 34647988 | RCV000145337; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808730 | 127808730 | | | NC_000002.11:g.127808730G>A | ClinGen:CA171389 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1460C>G (p.Ser487Cys) | 274 | BIN1 | Uncertain significance | 1342661066 | RCV001052649; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808731 | 127808731 | | | 2:g.127808731G>C | - | | |
NM_139343.3(BIN1):c.1443G>A (p.Ala481=) | 274 | BIN1 | Likely benign | 765816262 | RCV001419730; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808748 | 127808748 | | | 2:g.127808748C>T | - | | |
NM_139343.3(BIN1):c.1442C>T (p.Ala481Val) | 274 | BIN1 | Uncertain significance | 140410496 | RCV000550351; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808749 | 127808749 | | | NC_000002.11:g.127808749G>A | ClinGen:CA1857053 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1440G>A (p.Thr480=) | 274 | BIN1 | Likely benign | 754900286 | RCV001431389; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808751 | 127808751 | | | 127808751 | - | | |
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met) | 274 | BIN1 | Uncertain significance | 780918654 | RCV000535586|RCV001770422|RCV002527749; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 2 | 127808752 | 127808752 | | | NC_000002.11:g.127808752G>A | ClinGen:CA1857055 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys) | 274 | BIN1 | Uncertain significance | -1 | RCV002620511; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808752 | 127808752 | | | NC_000002.11:g.127808752G>T | - | | |
NM_139343.3(BIN1):c.1435G>A (p.Glu479Lys) | 274 | BIN1 | Uncertain significance | 865803817 | RCV001908786; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808756 | 127808756 | | | 127808756 | - | | |
NM_139343.3(BIN1):c.1412C>T (p.Ala471Val) | 274 | BIN1 | Uncertain significance | 746346952 | RCV000525420; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808779 | 127808779 | | | NC_000002.11:g.127808779G>A | ClinGen:CA1857062 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala) | 274 | BIN1 | Uncertain significance | -1 | RCV002726091; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808783 | 127808783 | | | NC_000002.11:g.127808783G>C | - | | |
NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile) | 274 | BIN1 | Uncertain significance | 769199881 | RCV001056158; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808788 | 127808788 | | | 2:g.127808788G>A | - | | |
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg) | 274 | BIN1 | Uncertain significance | -1 | RCV003143793; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808792 | 127808792 | | | NC_000002.11:g.127808792C>T | - | | |
NM_139343.3(BIN1):c.1395G>C (p.Ala465=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 765870974 | RCV001131837; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808796 | 127808796 | | | 2:g.127808796C>G | - | | |
NM_139343.3(BIN1):c.1395G>A (p.Ala465=) | 274 | BIN1 | Likely benign | 765870974 | RCV002105274; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808796 | 127808796 | | | 127808796 | - | | |
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val) | 274 | BIN1 | Uncertain significance | 751051376 | RCV001131838; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808797 | 127808797 | | | 2:g.127808797G>A | - | | |
NM_139343.3(BIN1):c.1385C>T (p.Ser462Leu) | 274 | BIN1 | Likely benign | 200580275 | RCV000551683; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808806 | 127808806 | | | NC_000002.11:g.127808806G>A | ClinGen:CA1857072 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1372-1G>A | 274 | BIN1 | Conflicting interpretations of pathogenicity | 1682909859 | RCV002253168|RCV003094132; | N | |MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808820 | 127808820 | | | 127808820 | - | | |
NM_139343.3(BIN1):c.1372-7G>T | 274 | BIN1 | Likely benign | 777558116 | RCV002204178; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808826 | 127808826 | | | 127808826 | - | | |
NM_139343.3(BIN1):c.1372-90C>T | 274 | BIN1 | Benign | 6745677 | RCV000837846|RCV001554063; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127808909 | 127808909 | | | 2:g.127808909G>A | - | | |
NM_139343.3(BIN1):c.1371+12C>T | 274 | BIN1 | Likely benign | 1015206482 | RCV002112042; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809819 | 127809819 | | | 127809819 | - | | |
NM_139343.3(BIN1):c.1371+10C>G | 274 | BIN1 | Likely benign | 1573539169 | RCV001431027; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809821 | 127809821 | | | 2:g.127809821G>C | - | | |
NM_139343.3(BIN1):c.1371+1G>T | 274 | BIN1 | Conflicting interpretations of pathogenicity | 556129959 | RCV000312478|RCV001213324; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809830 | 127809830 | | | 2:g.127809830C>A | ClinGen:CA1857088 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr) | 274 | BIN1 | Uncertain significance | -1 | RCV002296781; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809836 | 127809836 | | | 127809836 | - | | |
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) | 274 | BIN1 | Benign/Likely benign | 61748155 | RCV000145336|RCV000309589; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809840 | 127809840 | | | 2:g.127809840C>A | ClinGen:CA171387 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1362G>C (p.Gly454=) | 274 | BIN1 | Likely benign | 61748155 | RCV002153799; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809840 | 127809840 | | | 127809840 | - | | |
NM_139343.3(BIN1):c.1359G>A (p.Pro453=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 201397427 | RCV001132832; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809843 | 127809843 | | | NC_000002.11:g.127809843C>T | ClinGen:CA1857092 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) | 274 | BIN1 | Uncertain significance | 753599819 | RCV001577220|RCV001038283; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809844 | 127809844 | | | 2:g.127809844G>A | - | | |
NM_139343.3(BIN1):c.1353C>T (p.Ala451=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 552244334 | RCV000338571|RCV002059218; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809849 | 127809849 | | | 2:g.127809849G>A | ClinGen:CA1857094 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1353C>G (p.Ala451=) | 274 | BIN1 | Likely benign | 552244334 | RCV002136518; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809849 | 127809849 | | | 127809849 | - | | |
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp) | 274 | BIN1 | Uncertain significance | -1 | RCV003143787; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809850 | 127809850 | | | NC_000002.11:g.127809850G>T | - | | |
NM_139343.3(BIN1):c.1349C>A (p.Thr450Lys) | 274 | BIN1 | Uncertain significance | 750715069 | RCV002020500; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809853 | 127809853 | | | 127809853 | - | | |
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met) | 274 | BIN1 | Uncertain significance | -1 | RCV002462417|RCV003103124; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809853 | 127809853 | | | NC_000002.11:g.127809853G>A | - | | |
NM_139343.3(BIN1):c.1334C>A (p.Ser445Tyr) | 274 | BIN1 | Uncertain significance | 1158338100 | RCV001980934; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809868 | 127809868 | | | 127809868 | - | | |
NM_139343.3(BIN1):c.1328C>T (p.Ala443Val) | 274 | BIN1 | Uncertain significance | 758494519 | RCV000366610; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809874 | 127809874 | | | 2:g.127809874G>A | ClinGen:CA10612042 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly) | 274 | BIN1 | Uncertain significance | 758494519 | RCV000688764; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809874 | 127809874 | | | NC_000002.11:g.127809874G>C | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu) | 274 | BIN1 | Uncertain significance | -1 | RCV003045393; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809876 | 127809876 | | | NC_000002.11:g.127809876A>C | - | | |
NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile) | 274 | BIN1 | Uncertain significance | 886054834 | RCV000395082; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809880 | 127809880 | | | 2:g.127809880G>A | ClinGen:CA10611121 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1314C>T (p.Ala438=) | 274 | BIN1 | Likely benign | 747474627 | RCV000945615; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809888 | 127809888 | | | 2:g.127809888G>A | - | | |
NM_139343.3(BIN1):c.1308C>T (p.Ser436=) | 274 | BIN1 | Likely benign | 760959487 | RCV001489696; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809894 | 127809894 | | | 127809894 | - | | |
NM_139343.3(BIN1):c.1305C>T (p.Pro435=) | 274 | BIN1 | Likely benign | 1202386291 | RCV001447626; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809897 | 127809897 | | | 127809897 | - | | |
NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr) | 274 | BIN1 | Uncertain significance | 1240564481 | RCV001248597; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809899 | 127809899 | | | 2:g.127809899G>T | - | | |
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu) | 274 | BIN1 | Benign/Likely benign | 141119288 | RCV000254301|RCV000636918|RCV001697726; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127809910 | 127809910 | | | 2:g.127809910G>A | ClinGen:CA1857103 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn) | 274 | BIN1 | Uncertain significance | -1 | RCV002653174; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809916 | 127809916 | | | NC_000002.11:g.127809916C>T | - | | |
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) | 274 | BIN1 | Uncertain significance | 200124094 | RCV000636911|RCV003117445; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127809920 | 127809920 | | | NC_000002.11:g.127809920C>T | ClinGen:CA1857104 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1281C>T (p.Ala427=) | 274 | BIN1 | Likely benign | 373834859 | RCV001419302; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809921 | 127809921 | | | 127809921 | - | | |
NM_139343.3(BIN1):c.1271A>G (p.Glu424Gly) | 274 | BIN1 | Uncertain significance | 1468092156 | RCV001132833; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809931 | 127809931 | | | 2:g.127809931T>C | - | | |
NM_139343.3(BIN1):c.1264-11_1270del | 274 | BIN1 | Conflicting interpretations of pathogenicity | 776737413 | RCV000724730|RCV001080356; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809932 | 127809949 | | | NC_000002.11:g.127809933_127809950del | ClinGen:CA1857107 | | |
NM_139343.3(BIN1):c.1265C>T (p.Pro422Leu) | 274 | BIN1 | Uncertain significance | 760559539 | RCV001940277; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809937 | 127809937 | | | 127809937 | - | | |
NM_139343.3(BIN1):c.1264-5A>C | 274 | BIN1 | Conflicting interpretations of pathogenicity | 541219767 | RCV000558619|RCV001786398; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127809943 | 127809943 | | | NC_000002.11:g.127809943T>G | ClinGen:CA1857110 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1264-8G>A | 274 | BIN1 | Likely benign | 776696908 | RCV000249507|RCV002058400; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809946 | 127809946 | | | 2:g.127809946C>T | ClinGen:CA1857111 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1264-12G>T | 274 | BIN1 | Likely benign | 765093822 | RCV002080826; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809950 | 127809950 | | | 127809950 | - | | |
NM_139343.3(BIN1):c.1264-15G>A | 274 | BIN1 | Likely benign | 750540849 | RCV002152956; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809953 | 127809953 | | | 127809953 | - | | |
NM_139343.3(BIN1):c.1264-16C>T | 274 | BIN1 | Likely benign | -1 | RCV003104305; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127809954 | 127809954 | | | NC_000002.11:g.127809954G>A | - | | |
NM_139343.3(BIN1):c.1263+17C>T | 274 | BIN1 | Likely benign | 569766405 | RCV002220726; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127810981 | 127810981 | | | 127810981 | - | | |
NM_139343.3(BIN1):c.1263+12G>A | 274 | BIN1 | Likely benign | -1 | RCV002775301; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127810986 | 127810986 | | | NC_000002.11:g.127810986C>T | - | | |
NM_139343.3(BIN1):c.1263+11C>T | 274 | BIN1 | Conflicting interpretations of pathogenicity | 78967885 | RCV000192807|RCV000312988; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127810987 | 127810987 | | | NC_000002.11:g.127810987G>A | ClinGen:CA205892 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1251G>A (p.Trp417Ter) | 274 | BIN1 | Uncertain significance | 2104891817 | RCV001367846; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811010 | 127811010 | | | 127811010 | - | | |
NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys) | 274 | BIN1 | Uncertain significance | -1 | RCV002857922; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811010 | 127811010 | | | NC_000002.11:g.127811010C>G | - | | |
NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala) | 274 | BIN1 | Uncertain significance | 777951748 | RCV001214403; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811021 | 127811021 | | | 2:g.127811021A>C | - | | |
NM_139343.3(BIN1):c.1240-6G>T | 274 | BIN1 | Likely benign | 548956444 | RCV001392325; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811027 | 127811027 | | | 127811027 | - | | |
NM_139343.3(BIN1):c.1240-6G>A | 274 | BIN1 | Likely benign | 548956444 | RCV002094358; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811027 | 127811027 | | | 127811027 | - | | |
NM_139343.3(BIN1):c.1240-7C>T | 274 | BIN1 | Likely benign | 746676469 | RCV001457289; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811028 | 127811028 | | | 127811028 | - | | |
NM_139343.3(BIN1):c.1240-9T>C | 274 | BIN1 | Likely benign | 1360673670 | RCV002204589; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811030 | 127811030 | | | 127811030 | - | | |
NM_139343.3(BIN1):c.1240-20G>A | 274 | BIN1 | Likely benign | 377476606 | RCV002101719; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811041 | 127811041 | | | 127811041 | - | | |
NM_139343.3(BIN1):c.1239+15_1239+24del | 274 | BIN1 | Likely benign | 964389278 | RCV001957465; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811457 | 127811466 | | | 127811456 | - | | |
NM_139343.3(BIN1):c.1239+16C>A | 274 | BIN1 | Likely benign | 550357998 | RCV002083715; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811465 | 127811465 | | | 127811465 | - | | |
NM_139343.3(BIN1):c.1239+12C>T | 274 | BIN1 | Likely benign | 1051734043 | RCV002081951; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811469 | 127811469 | | | 127811469 | - | | |
NM_139343.3(BIN1):c.1227G>A (p.Thr409=) | 274 | BIN1 | Likely benign | -1 | RCV002766574|RCV003435826; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127811493 | 127811493 | | | | - | | |
NM_139343.3(BIN1):c.1226C>T (p.Thr409Met) | 274 | BIN1 | Uncertain significance | 754678339 | RCV001919801; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811494 | 127811494 | | | 127811494 | - | | |
NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn) | 274 | BIN1 | Uncertain significance | -1 | RCV002791914; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811512 | 127811512 | | | NC_000002.11:g.127811512C>T | - | | |
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met) | 274 | BIN1 | Uncertain significance | 747660857 | RCV000803034; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811515 | 127811515 | | | 2:g.127811515G>A | - | | |
NM_139343.3(BIN1):c.1201G>A (p.Val401Met) | 274 | BIN1 | Uncertain significance | -1 | RCV003074011; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811519 | 127811519 | | | NC_000002.11:g.127811519C>T | - | | |
NM_139343.3(BIN1):c.1200C>T (p.Pro400=) | 274 | BIN1 | Likely benign | -1 | RCV002922516; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811520 | 127811520 | | | | - | | |
NM_139343.3(BIN1):c.1198C>A (p.Pro400Thr) | 274 | BIN1 | Uncertain significance | 769252326 | RCV002046248; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811522 | 127811522 | | | 127811522 | - | | |
NM_139343.3(BIN1):c.1197G>A (p.Pro399=) | 274 | BIN1 | Likely benign | 370728071 | RCV001451165|RCV001704417; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN517202 | 2 | 127811523 | 127811523 | | | 2:g.127811523C>T | ClinGen:CA1857165 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) | 274 | BIN1 | Uncertain significance | 558530329 | RCV000728437|RCV001862147; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811524 | 127811524 | | | NC_000002.11:g.127811524G>A | - | | |
NM_139343.3(BIN1):c.1188C>T (p.Asp396=) | 274 | BIN1 | Likely benign | 1321356771 | RCV002185095; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811532 | 127811532 | | | 127811532 | - | | |
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly) | 274 | BIN1 | Uncertain significance | 375322787 | RCV000822221; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811539 | 127811539 | | | 2:g.127811539T>C | - | | |
NM_139343.3(BIN1):c.1166G>C (p.Ser389Thr) | 274 | BIN1 | Uncertain significance | 1683302135 | RCV001307237; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811554 | 127811554 | | | 127811554 | - | | |
NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr) | 274 | BIN1 | Uncertain significance | -1 | RCV002594285; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811558 | 127811558 | | | NC_000002.11:g.127811558C>T | - | | |
NM_139343.3(BIN1):c.1156G>A (p.Glu386Lys) | 274 | BIN1 | Uncertain significance | 1268978517 | RCV002039611; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811564 | 127811564 | | | 127811564 | - | | |
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) | 274 | BIN1 | Uncertain significance | 368616652 | RCV000725377|RCV001054931; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811566 | 127811566 | | | 2:g.127811566G>A | ClinGen:CA10604662 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser) | 274 | BIN1 | Uncertain significance | 1573549506 | RCV000794777; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811573 | 127811573 | | | 2:g.127811573G>A | - | | |
NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr) | 274 | BIN1 | Uncertain significance | 1573549506 | RCV001345894; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811573 | 127811573 | | | 127811573 | - | | |
NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu) | 274 | BIN1 | Uncertain significance | -1 | RCV002593996; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811575 | 127811575 | | | NC_000002.11:g.127811575C>T | - | | |
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 372360787 | RCV000370019|RCV001706543; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127811577 | 127811577 | | | 2:g.127811577C>T | ClinGen:CA1857167 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) | 274 | BIN1 | Uncertain significance | 794727107 | RCV000174616|RCV000765501; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811578 | 127811578 | | | 2:g.127811578G>A | ClinGen:CA240163 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr) | 274 | BIN1 | Uncertain significance | 200887814 | RCV000694980; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811582 | 127811582 | | | 2:g.127811582C>T | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1132-2A>G | 274 | BIN1 | Uncertain significance | 1295546366 | RCV000686184; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811590 | 127811590 | | | 2:g.127811590T>C | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1132-6_1132-4dup | 274 | BIN1 | Likely benign | 765093741 | RCV000819593; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811591 | 127811592 | | | 2:g.127811591_127811592insGGC | - | | |
NM_139343.3(BIN1):c.1132-22TGC[7] | 274 | BIN1 | Conflicting interpretations of pathogenicity | 748026377 | RCV000277662; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811592 | 127811593 | | | 2:g.127811592_127811593insGCA | ClinGen:CA10612048 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1132-22TGC[8] | 274 | BIN1 | Likely benign | 748026377 | RCV000877119; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811592 | 127811593 | | | 2:g.127811592_127811593insGCAGCA | - | | |
NM_139343.3(BIN1):c.1132-7T>C | 274 | BIN1 | Conflicting interpretations of pathogenicity | 115938552 | RCV000145335|RCV000536059|RCV001719915; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127811595 | 127811595 | | | 2:g.127811595A>G | ClinGen:CA171386 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1132-8C>T | 274 | BIN1 | Likely benign | 1573549844 | RCV001475611; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811596 | 127811596 | | | 2:g.127811596G>A | - | | |
NM_139343.3(BIN1):c.1132-126_1132-125dup | 274 | BIN1 | Benign | 35339559 | RCV000837831|RCV001554064; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127811712 | 127811713 | | | 2:g.127811712_127811713insCA | - | | |
NM_139343.3(BIN1):c.1131+7_1131+26del | 274 | BIN1 | Likely benign | 555116802 | RCV000543062; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815023 | 127815042 | | | NC_000002.11:g.127815027_127815046del | ClinGen:CA1857178 | | |
NM_139343.3(BIN1):c.1131+14_1131+22del | 274 | BIN1 | Likely benign | 751183383 | RCV002220488; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815027 | 127815035 | | | 127815026 | - | | |
NC_000002.11:g.(?_127815029)_(127864539_?)dup | 274 | BIN1 | Uncertain significance | -1 | RCV000707869; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815029 | 127864539 | | | | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1131+18C>T | 274 | BIN1 | Benign | 191760397 | RCV000247438|RCV002058399; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815031 | 127815031 | | | 2:g.127815031G>A | ClinGen:CA1857182 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1131+18C>A | 274 | BIN1 | Likely benign | 191760397 | RCV002118247; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815031 | 127815031 | | | 127815031 | - | | |
NM_139343.3(BIN1):c.1131+16C>T | 274 | BIN1 | Likely benign | -1 | RCV003091201; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815033 | 127815033 | | | NC_000002.11:g.127815033G>A | - | | |
NM_139343.3(BIN1):c.1131+14G>A | 274 | BIN1 | Likely benign | 767192904 | RCV002100226; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815035 | 127815035 | | | 127815035 | - | | |
NM_139343.3(BIN1):c.1131+13C>T | 274 | BIN1 | Likely benign | -1 | RCV002612045; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815036 | 127815036 | | | NC_000002.11:g.127815036G>A | - | | |
NM_139343.3(BIN1):c.1131+9C>T | 274 | BIN1 | Conflicting interpretations of pathogenicity | 138606879 | RCV000316364; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815040 | 127815040 | | | 2:g.127815040G>A | ClinGen:CA1857185 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1131+7C>T | 274 | BIN1 | Likely benign | 376590911 | RCV000426182|RCV000557755; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815042 | 127815042 | | | 2:g.127815042G>A | ClinGen:CA1857186 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 2104935838 | RCV001816264|RCV001869643; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815056 | 127815056 | | | 127815056 | - | | |
NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu) | 274 | BIN1 | Uncertain significance | -1 | RCV002736791; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815056 | 127815056 | | | NC_000002.11:g.127815056G>A | - | | |
NM_139343.3(BIN1):c.1122C>T (p.Thr374=) | 274 | BIN1 | Likely benign | 1386270090 | RCV001448346; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815058 | 127815058 | | | 2:g.127815058G>A | - | | |
NM_139343.3(BIN1):c.1119C>T (p.Thr373=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 1444368852 | RCV001501063|RCV003319474; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127815061 | 127815061 | | | 127815061 | - | | |
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) | 274 | BIN1 | Uncertain significance | 749198133 | RCV000435212|RCV001064060; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815066 | 127815066 | | | 2:g.127815066C>T | ClinGen:CA1857187 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1113C>T (p.Ser371=) | 274 | BIN1 | Likely benign | 757286408 | RCV002064749; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815067 | 127815067 | | | 2:g.127815067G>A | - | | |
NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg) | 274 | BIN1 | Uncertain significance | -1 | RCV002294924; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815067 | 127815067 | | | 127815067 | - | | |
NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly) | 274 | BIN1 | Uncertain significance | 1553456782 | RCV000532874; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815069 | 127815069 | | | 2:g.127815069T>C | ClinGen:CA348378423 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1095G>A (p.Thr365=) | 274 | BIN1 | Likely benign | 1401448705 | RCV001482810; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815085 | 127815085 | | | 127815085 | - | | |
NM_139343.3(BIN1):c.1094C>T (p.Thr365Met) | 274 | BIN1 | Uncertain significance | 577812854 | RCV002003439; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815086 | 127815086 | | | 127815086 | - | | |
NM_139343.3(BIN1):c.1092C>T (p.Asp364=) | 274 | BIN1 | Uncertain significance | 745647728 | RCV001136228; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815088 | 127815088 | | | 2:g.127815088G>A | - | | |
NM_139343.3(BIN1):c.1083G>A (p.Leu361=) | 274 | BIN1 | Likely benign | 543438812 | RCV001425178; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815097 | 127815097 | | | 127815097 | - | | |
NM_139343.3(BIN1):c.1075C>T (p.Leu359Phe) | 274 | BIN1 | Uncertain significance | 965561469 | RCV001911459; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815105 | 127815105 | | | 127815105 | - | | |
NM_139343.3(BIN1):c.1072A>G (p.Ile358Val) | 274 | BIN1 | Uncertain significance | 1355424178 | RCV001312281; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815108 | 127815108 | | | 127815108 | - | | |
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu) | 274 | BIN1 | Uncertain significance | 886043420 | RCV000325514|RCV000636912; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815120 | 127815120 | | | 2:g.127815120T>C | ClinGen:CA10605499 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1047G>A (p.Pro349=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 148945502 | RCV000354884; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815133 | 127815133 | | | NC_000002.11:g.127815133C>T | ClinGen:CA1857193 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu) | 274 | BIN1 | Uncertain significance | 775494528 | RCV000707242; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815134 | 127815134 | | | NC_000002.11:g.127815134G>A | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1029G>A (p.Pro343=) | 274 | BIN1 | Likely benign | 1470654878 | RCV001485588; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815151 | 127815151 | | | 127815151 | - | | |
NM_139343.3(BIN1):c.1020A>G (p.Pro340=) | 274 | BIN1 | Likely benign | -1 | RCV002942238; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815160 | 127815160 | | | | - | | |
NM_139343.3(BIN1):c.1018C>T (p.Pro340Ser) | 274 | BIN1 | Uncertain significance | 1405949552 | RCV001136229; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815162 | 127815162 | | | 2:g.127815162G>A | - | | |
NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala) | 274 | BIN1 | Uncertain significance | -1 | RCV002705633; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815162 | 127815162 | | | NC_000002.11:g.127815162G>C | - | | |
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp) | 274 | BIN1 | Uncertain significance | 76037557 | RCV001756345|RCV002539861; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815174 | 127815174 | | | 127815174 | - | | |
NM_139343.3(BIN1):c.1003-6C>A | 274 | BIN1 | Likely benign | 1406716458 | RCV000701181; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815183 | 127815183 | | | NC_000002.11:g.127815183G>T | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.1003-10C>T | 274 | BIN1 | Likely benign | 763361398 | RCV001415684; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815187 | 127815187 | | | 127815187 | - | | |
NM_139343.3(BIN1):c.1003-11C>G | 274 | BIN1 | Conflicting interpretations of pathogenicity | 759676621 | RCV001136230|RCV001712245; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127815188 | 127815188 | | | 2:g.127815188G>C | ClinGen:CA1857200 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1003-13C>T | 274 | BIN1 | Conflicting interpretations of pathogenicity | 374490688 | RCV001136231; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815190 | 127815190 | | | 2:g.127815190G>A | - | | |
NM_139343.3(BIN1):c.1003-15G>A | 274 | BIN1 | Benign/Likely benign | 149290511 | RCV000244281|RCV002058398; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815192 | 127815192 | | | 2:g.127815192C>T | ClinGen:CA1857202 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1003-16C>T | 274 | BIN1 | Benign/Likely benign | 547659375 | RCV000291039|RCV002059314; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127815193 | 127815193 | | | 2:g.127815193G>A | ClinGen:CA1857203 | CN169374 not specified; | |
NM_139343.3(BIN1):c.1002+163T>C | 274 | BIN1 | Benign | 2276582 | RCV000837720|RCV001554065; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816424 | 127816424 | | | 2:g.127816424A>G | - | | |
NM_139343.3(BIN1):c.1002+2T>C | 274 | BIN1 | Likely pathogenic | 1553458019 | RCV000498774|RCV001782991; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816585 | 127816585 | | | 2:g.127816585A>G | ClinGen:CA348379141 | CN517202 not provided; | |
NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr) | 274 | BIN1 | Uncertain significance | -1 | RCV002856456; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816608 | 127816609 | | | NC_000002.11:g.127816618_127816629dup | - | | |
NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del) | 274 | BIN1 | Uncertain significance | -1 | RCV002685510; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816609 | 127816620 | | | NC_000002.11:g.127816618_127816629del | - | | |
NM_139343.3(BIN1):c.975G>A (p.Gly325=) | 274 | BIN1 | Likely benign | 771288492 | RCV002211638; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816614 | 127816614 | | | 127816614 | - | | |
NM_139343.3(BIN1):c.972C>T (p.Pro324=) | 274 | BIN1 | Likely benign | 537603056 | RCV001405964; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816617 | 127816617 | | | 127816617 | - | | |
NM_139343.3(BIN1):c.968C>T (p.Thr323Met) | 274 | BIN1 | Uncertain significance | 763810794 | RCV001227524; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816621 | 127816621 | | | 2:g.127816621G>A | - | | |
NM_139343.3(BIN1):c.967A>T (p.Thr323Ser) | 274 | BIN1 | Uncertain significance | 753614814 | RCV001959910; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816622 | 127816622 | | | 127816622 | - | | |
NM_139343.3(BIN1):c.965C>T (p.Ala322Val) | 274 | BIN1 | Uncertain significance | 1684085224 | RCV001136232; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816624 | 127816624 | | | 2:g.127816624G>A | - | | |
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) | 274 | BIN1 | Uncertain significance | 557276019 | RCV000262446|RCV000442714|RCV002521281; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 2 | 127816628 | 127816628 | | | NC_000002.11:g.127816628C>T | ClinGen:CA1857225 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.960C>T (p.Gly320=) | 274 | BIN1 | Likely benign | 758286460 | RCV001981032; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816629 | 127816629 | | | 127816629 | - | | |
NM_139343.3(BIN1):c.957C>A (p.Ala319=) | 274 | BIN1 | Uncertain significance | 2276579 | RCV000145351; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816632 | 127816632 | | | NC_000002.11:g.127816632G>T | ClinGen:CA171414 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.957C>G (p.Ala319=) | 274 | BIN1 | Uncertain significance | 2276579 | RCV000145352; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816632 | 127816632 | | | NC_000002.11:g.127816632G>C | ClinGen:CA171416 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.957C>T (p.Ala319=) | 274 | BIN1 | Benign/Likely benign | 2276579 | RCV000145353|RCV000319647; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816632 | 127816632 | | | 2:g.127816632G>A | ClinGen:CA171417 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.953C>T (p.Pro318Leu) | 274 | BIN1 | Uncertain significance | -1 | RCV002651506; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816636 | 127816636 | | | NC_000002.11:g.127816636G>A | - | | |
NM_139343.3(BIN1):c.952C>T (p.Pro318Ser) | 274 | BIN1 | Uncertain significance | 781377841 | RCV001904434; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816637 | 127816637 | | | 127816637 | - | | |
NM_139343.3(BIN1):c.946C>T (p.Pro316Ser) | 274 | BIN1 | Uncertain significance | 748381039 | RCV001352051; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816643 | 127816643 | | | 127816643 | - | | |
NM_139343.3(BIN1):c.943G>C (p.Glu315Gln) | 274 | BIN1 | Uncertain significance | 769801396 | RCV001238446; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816646 | 127816646 | | | 2:g.127816646C>G | - | | |
NM_139343.3(BIN1):c.943G>A (p.Glu315Lys) | 274 | BIN1 | Uncertain significance | 769801396 | RCV001878467; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816646 | 127816646 | | | 127816646 | - | | |
NM_139343.3(BIN1):c.942C>T (p.His314=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 370911793 | RCV000724853|RCV001087297; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816647 | 127816647 | | | 2:g.127816647G>A | ClinGen:CA239563 | CN169374 not specified; | |
NM_139343.3(BIN1):c.935T>G (p.Val312Gly) | 274 | BIN1 | Uncertain significance | -1 | RCV003044521; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816654 | 127816654 | | | NC_000002.11:g.127816654A>C | - | | |
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) | 274 | BIN1 | Uncertain significance | 374565677 | RCV000445206|RCV001045898; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816664 | 127816664 | | | 2:g.127816664C>T | ClinGen:CA1857232 | CN169374 not specified; | |
NM_139343.3(BIN1):c.924C>T (p.Pro308=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 367611371 | RCV000372979|RCV000726110|RCV001088820; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816665 | 127816665 | | | 2:g.127816665G>A | ClinGen:CA1857233 | CN169374 not specified; | |
NM_139343.3(BIN1):c.920C>G (p.Thr307Ser) | 274 | BIN1 | Uncertain significance | 199551366 | RCV001204344; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816669 | 127816669 | | | 2:g.127816669G>C | - | | |
NM_139343.3(BIN1):c.920C>T (p.Thr307Ile) | 274 | BIN1 | Uncertain significance | 199551366 | RCV001344573; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816669 | 127816669 | | | 127816669 | - | | |
NM_139343.3(BIN1):c.916G>A (p.Ala306Thr) | 274 | BIN1 | Uncertain significance | -1 | RCV002895747; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816673 | 127816673 | | | NC_000002.11:g.127816673C>T | - | | |
NM_139343.3(BIN1):c.915C>T (p.Ala305=) | 274 | BIN1 | Likely benign | 761585447 | RCV001504952; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816674 | 127816674 | | | 2:g.127816674G>A | - | | |
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe) | 274 | BIN1 | Uncertain significance | -1 | RCV003143792; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816681 | 127816681 | | | NC_000002.11:g.127816681G>A | - | | |
NM_139343.3(BIN1):c.906C>T (p.Gly302=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 371258305 | RCV000252539|RCV000636914|RCV001722356; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127816683 | 127816683 | | | 2:g.127816683G>A | ClinGen:CA1857240 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.903T>C (p.Asp301=) | 274 | BIN1 | Likely benign | 141588262 | RCV000544828; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816686 | 127816686 | | | NC_000002.11:g.127816686A>G | ClinGen:CA1857241 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.902A>G (p.Asp301Gly) | 274 | BIN1 | Uncertain significance | 1259572705 | RCV001975790; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816687 | 127816687 | | | 127816687 | - | | |
NM_139343.3(BIN1):c.901G>T (p.Asp301Tyr) | 274 | BIN1 | Uncertain significance | 1462533329 | RCV001062598; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816688 | 127816688 | | | 2:g.127816688C>A | - | | |
NM_139343.3(BIN1):c.894G>A (p.Ser298=) | 274 | BIN1 | Benign/Likely benign | 2228955 | RCV000145350|RCV000376667; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816695 | 127816695 | | | 2:g.127816695C>T | ClinGen:CA171412 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) | 274 | BIN1 | Uncertain significance | 754707833 | RCV000487008|RCV001055348; | N | MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816696 | 127816696 | | | 2:g.127816696G>A | ClinGen:CA1857243 | CN169374 not specified; | |
NM_139343.3(BIN1):c.889C>A (p.Pro297Thr) | 274 | BIN1 | Uncertain significance | 1160778854 | RCV001885590; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816700 | 127816700 | | | 127816700 | - | | |
NM_139343.3(BIN1):c.888C>T (p.Ser296=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 114833236 | RCV000145349|RCV000284692|RCV003221820; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127816701 | 127816701 | | | 2:g.127816701G>A | ClinGen:CA171410 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.887G>A (p.Ser296Asn) | 274 | BIN1 | Uncertain significance | 1490772170 | RCV001227299; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816702 | 127816702 | | | 2:g.127816702C>T | - | | |
NM_139343.3(BIN1):c.867G>A (p.Ala289=) | 274 | BIN1 | Likely benign | 201839857 | RCV000875950; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816722 | 127816722 | | | 2:g.127816722C>T | - | | |
NM_139343.3(BIN1):c.866C>T (p.Ala289Val) | 274 | BIN1 | Uncertain significance | 771112840 | RCV000817171; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816723 | 127816723 | | | 2:g.127816723G>A | - | | |
NM_139343.3(BIN1):c.865G>A (p.Ala289Thr) | 274 | BIN1 | Uncertain significance | -1 | RCV003017441; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816724 | 127816724 | | | NC_000002.11:g.127816724C>T | - | | |
NM_139343.3(BIN1):c.864C>T (p.Asn288=) | 274 | BIN1 | Likely benign | 746393271 | RCV000636917; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816725 | 127816725 | | | NC_000002.11:g.127816725G>A | ClinGen:CA1857250 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.863A>G (p.Asn288Ser) | 274 | BIN1 | Uncertain significance | 2104954121 | RCV001965692; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816726 | 127816726 | | | 127816726 | - | | |
NM_139343.3(BIN1):c.858-5C>T | 274 | BIN1 | Benign/Likely benign | 75328896 | RCV000560847|RCV000602308; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN169374 | 2 | 127816736 | 127816736 | | | 2:g.127816736G>A | ClinGen:CA1857252 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.858-10T>C | 274 | BIN1 | Likely benign | -1 | RCV002598648; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816741 | 127816741 | | | NC_000002.11:g.127816741A>G | - | | |
NM_139343.3(BIN1):c.858-12C>A | 274 | BIN1 | Benign | 6720741 | RCV000145348|RCV000323294; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127816743 | 127816743 | | | 2:g.127816743G>T | ClinGen:CA171409 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.857+18C>T | 274 | BIN1 | Likely benign | 1244052584 | RCV002131045; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819673 | 127819673 | | | 127819673 | - | | |
NM_139343.3(BIN1):c.857+12G>A | 274 | BIN1 | Likely benign | -1 | RCV002636566; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819679 | 127819679 | | | NC_000002.11:g.127819679C>T | - | | |
NM_139343.3(BIN1):c.857+4C>T | 274 | BIN1 | Uncertain significance | 61748156 | RCV000636909; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819687 | 127819687 | | | NC_000002.11:g.127819687G>A | ClinGen:CA1857310 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.847G>A (p.Ala283Thr) | 274 | BIN1 | Uncertain significance | -1 | RCV003078632; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819701 | 127819701 | | | NC_000002.11:g.127819701C>T | - | | |
NM_139343.3(BIN1):c.839C>T (p.Thr280Met) | 274 | BIN1 | Uncertain significance | 201872255 | RCV000636908; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819709 | 127819709 | | | 2:g.127819709G>A | ClinGen:CA1857311 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.823G>A (p.Gly275Arg) | 274 | BIN1 | Uncertain significance | 771506242 | RCV001227313; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819725 | 127819725 | | | 2:g.127819725C>T | - | | |
NM_139343.3(BIN1):c.823G>T (p.Gly275Trp) | 274 | BIN1 | Uncertain significance | 771506242 | RCV001296423; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819725 | 127819725 | | | 127819725 | - | | |
NM_139343.3(BIN1):c.822C>T (p.His274=) | 274 | BIN1 | Likely benign | 368730077 | RCV000710737|RCV001432725; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819726 | 127819726 | | | NC_000002.11:g.127819726G>A | - | | |
NM_139343.3(BIN1):c.821A>G (p.His274Arg) | 274 | BIN1 | Uncertain significance | -1 | RCV002632563; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819727 | 127819727 | | | NC_000002.11:g.127819727T>C | - | | |
NM_139343.3(BIN1):c.808C>T (p.Leu270=) | 274 | BIN1 | Likely benign | -1 | RCV002611712; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819740 | 127819740 | | | | - | | |
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 372072916 | RCV000420208|RCV000697587|RCV002522439; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MeSH:D030342,MedGen:C0950123 | 2 | 127819743 | 127819743 | | | 2:g.127819743C>T | ClinGen:CA1857317 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.804C>T (p.Val268=) | 274 | BIN1 | Likely benign | 761683510 | RCV001484332; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819744 | 127819744 | | | 127819744 | - | | |
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser) | 274 | BIN1 | Uncertain significance | 766319258 | RCV001129261|RCV002556819; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MeSH:D030342,MedGen:C0950123 | 2 | 127819757 | 127819757 | | | 2:g.127819757T>C | - | | |
NM_139343.3(BIN1):c.789C>T (p.Leu263=) | 274 | BIN1 | Likely benign | -1 | RCV002912649; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819759 | 127819759 | | | | - | | |
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser) | 274 | BIN1 | Uncertain significance | -1 | RCV003143788; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819763 | 127819763 | | | NC_000002.11:g.127819763T>C | - | | |
NM_139343.3(BIN1):c.784A>C (p.Asn262His) | 274 | BIN1 | Uncertain significance | 1331854784 | RCV001896586; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819764 | 127819764 | | | 127819764 | - | | |
NM_139343.3(BIN1):c.775-3C>T | 274 | BIN1 | Uncertain significance | 373768625 | RCV001904769; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819776 | 127819776 | | | 127819776 | - | | |
NM_139343.3(BIN1):c.775-4G>A | 274 | BIN1 | Benign | 61748157 | RCV000145347|RCV000381094; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819777 | 127819777 | | | 2:g.127819777C>T | ClinGen:CA171408 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.775-7C>G | 274 | BIN1 | Likely benign | 1684594015 | RCV001929251; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819780 | 127819780 | | | 127819780 | - | | |
NM_139343.3(BIN1):c.775-8T>C | 274 | BIN1 | Likely benign | -1 | RCV002701072; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819781 | 127819781 | | | NC_000002.11:g.127819781A>G | - | | |
NM_139343.3(BIN1):c.775-13G>T | 274 | BIN1 | Likely benign | 778119265 | RCV000615175|RCV002529519; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819786 | 127819786 | | | 2:g.127819786C>A | ClinGen:CA535638117 | CN169374 not specified; | |
NM_139343.3(BIN1):c.775-13G>C | 274 | BIN1 | Likely benign | 778119265 | RCV002165316; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819786 | 127819786 | | | 127819786 | - | | |
NM_139343.3(BIN1):c.775-15C>T | 274 | BIN1 | Likely benign | 367719456 | RCV002177801; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127819788 | 127819788 | | | 127819788 | - | | |
NM_139343.3(BIN1):c.774+62G>A | 274 | BIN1 | Benign | 2071268 | RCV000837829|RCV001554066; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821085 | 127821085 | | | 2:g.127821085C>T | - | | |
NC_000002.11:g.(?_127821127)_(127834302_?)dup | 274 | BIN1 | Uncertain significance | -1 | RCV000636923; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821127 | 127834302 | | | | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.774+16C>T | 274 | BIN1 | Likely benign | 1482374716 | RCV002081760; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821131 | 127821131 | | | 127821131 | - | | |
NM_139343.3(BIN1):c.774+13G>A | 274 | BIN1 | Likely benign | 767512096 | RCV002079020; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821134 | 127821134 | | | 127821134 | - | | |
NM_139343.3(BIN1):c.774+9dup | 274 | BIN1 | Likely benign | 1196593252 | RCV002083557; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821137 | 127821138 | | | 127821137 | - | | |
NM_139343.3(BIN1):c.774+10G>A | 274 | BIN1 | Likely benign | 1684774289 | RCV002147107; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821137 | 127821137 | | | 127821137 | - | | |
NM_139343.3(BIN1):c.774+9T>C | 274 | BIN1 | Likely benign | -1 | RCV002790837; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821138 | 127821138 | | | NC_000002.11:g.127821138A>G | - | | |
NM_139343.3(BIN1):c.770G>A (p.Ser257Asn) | 274 | BIN1 | Uncertain significance | 761203710 | RCV001059191; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821151 | 127821151 | | | 2:g.127821151C>T | - | | |
NM_139343.3(BIN1):c.767T>C (p.Met256Thr) | 274 | BIN1 | Uncertain significance | 975404965 | RCV000636905; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821154 | 127821154 | | | 2:g.127821154A>G | ClinGen:CA55349049 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.741C>G (p.Gly247=) | 274 | BIN1 | Likely benign | 766037529 | RCV001438420; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821180 | 127821180 | | | 127821180 | - | | |
NM_139343.3(BIN1):c.740G>A (p.Gly247Asp) | 274 | BIN1 | Uncertain significance | 1684781364 | RCV001230754; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821181 | 127821181 | | | 2:g.127821181C>T | - | | |
NM_139343.3(BIN1):c.738G>A (p.Ala246=) | 274 | BIN1 | Likely benign | 751182086 | RCV000960392; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821183 | 127821183 | | | 2:g.127821183C>T | - | | |
NM_139343.3(BIN1):c.735C>T (p.Ile245=) | 274 | BIN1 | Likely benign | 184358580 | RCV001466672; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821186 | 127821186 | | | 127821186 | - | | |
NM_139343.3(BIN1):c.730A>G (p.Ser244Gly) | 274 | BIN1 | Uncertain significance | 777898974 | RCV001962734; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821191 | 127821191 | | | 127821191 | - | | |
NM_139343.3(BIN1):c.723G>A (p.Thr241=) | 274 | BIN1 | Likely benign | 370016618 | RCV001423774; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821198 | 127821198 | | | 127821198 | - | | |
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) | 274 | BIN1 | Uncertain significance | 146573197 | RCV000546175|RCV000726561; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127821206 | 127821206 | | | 2:g.127821206C>T | ClinGen:CA1857358 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.714C>T (p.Tyr238=) | 274 | BIN1 | Benign | 1137845 | RCV000145346|RCV000288997; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821207 | 127821207 | | | 2:g.127821207G>A | ClinGen:CA171406 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.702C>T (p.Arg234=) | 274 | BIN1 | Likely benign | 775573748 | RCV000636922; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821219 | 127821219 | | | NC_000002.11:g.127821219G>A | ClinGen:CA1857360 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.701G>A (p.Arg234His) | 274 | BIN1 | Uncertain significance | -1 | RCV002982533; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821220 | 127821220 | | | NC_000002.11:g.127821220C>T | - | | |
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) | 274 | BIN1 | Pathogenic/Likely pathogenic | 777176261 | RCV000754843; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821221 | 127821221 | | | NC_000002.11:g.127821221G>A | OMIM:601248.0005 | | |
NM_139343.3(BIN1):c.699-4G>A | 274 | BIN1 | Likely benign | 1389764447 | RCV002100378; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821226 | 127821226 | | | 127821226 | - | | |
NM_139343.3(BIN1):c.699-5T>C | 274 | BIN1 | Likely benign | 1573608578 | RCV001472870; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821227 | 127821227 | | | 2:g.127821227A>G | - | | |
NM_139343.3(BIN1):c.699-13C>T | 274 | BIN1 | Likely benign | 373662459 | RCV000250699|RCV002058403; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821235 | 127821235 | | | 2:g.127821235G>A | ClinGen:CA1857367 | CN169374 not specified; | |
NM_139343.3(BIN1):c.698+19C>T | 274 | BIN1 | Likely benign | 2105007728 | RCV002169912; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821490 | 127821490 | | | 127821490 | - | | |
NM_139343.3(BIN1):c.698+15G>A | 274 | BIN1 | Conflicting interpretations of pathogenicity | 535176915 | RCV001131969; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821494 | 127821494 | | | 2:g.127821494C>T | - | | |
NM_139343.3(BIN1):c.698+14C>T | 274 | BIN1 | Likely benign | 376710764 | RCV000612577|RCV002064284; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821495 | 127821495 | | | 2:g.127821495G>A | ClinGen:CA1857385 | CN169374 not specified; | |
NM_139343.3(BIN1):c.698+10A>G | 274 | BIN1 | Benign | 72481904 | RCV000145345|RCV000346183; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821499 | 127821499 | | | 2:g.127821499T>C | ClinGen:CA171405 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.698+9_698+10inv | 274 | BIN1 | Likely benign | -1 | RCV002156674; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821499 | 127821500 | | | 127821499 | - | | |
NM_139343.3(BIN1):c.698+9C>T | 274 | BIN1 | Conflicting interpretations of pathogenicity | 763703697 | RCV000609715|RCV001131970; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821500 | 127821500 | | | 2:g.127821500G>A | ClinGen:CA1857388 | CN169374 not specified; | |
NM_139343.3(BIN1):c.698+7C>T | 274 | BIN1 | Likely benign | 2105007972 | RCV002204764; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821502 | 127821502 | | | 127821502 | - | | |
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) | 274 | BIN1 | Uncertain significance | 143820618 | RCV000145344|RCV000514580|RCV000529083; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821511 | 127821511 | | | NC_000002.11:g.127821511G>T | ClinGen:CA171403 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.684G>A (p.Pro228=) | 274 | BIN1 | Likely benign | 778962397 | RCV001493927; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821523 | 127821523 | | | 127821523 | - | | |
NM_139343.3(BIN1):c.681G>A (p.Leu227=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 199658397 | RCV000384474; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821526 | 127821526 | | | NC_000002.11:g.127821526C>T | ClinGen:CA1857391 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) | 274 | BIN1 | Uncertain significance | 886054835 | RCV000292621|RCV002254923; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN517202 | 2 | 127821528 | 127821528 | | | NC_000002.11:g.127821528G>C | ClinGen:CA10612170 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.675G>A (p.Glu225=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 148179522 | RCV000945400; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821532 | 127821532 | | | 2:g.127821532C>T | - | | |
NM_139343.3(BIN1):c.669G>A (p.Leu223=) | 274 | BIN1 | Likely benign | 1573610955 | RCV001463541; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821538 | 127821538 | | | 2:g.127821538C>T | - | | |
NM_139343.3(BIN1):c.666T>G (p.Asp222Glu) | 274 | BIN1 | Uncertain significance | 376323215 | RCV001314915; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821541 | 127821541 | | | 127821541 | - | | |
NM_139343.3(BIN1):c.662T>A (p.Val221Glu) | 274 | BIN1 | Uncertain significance | -1 | RCV002967621; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821545 | 127821545 | | | NC_000002.11:g.127821545A>T | - | | |
NM_139343.3(BIN1):c.661G>A (p.Val221Met) | 274 | BIN1 | Uncertain significance | 573529529 | RCV001365447|RCV002462961; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127821546 | 127821546 | | | 127821546 | - | | |
NM_139343.3(BIN1):c.660T>C (p.Asn220=) | 274 | BIN1 | Likely benign | 1573611005 | RCV001472349; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821547 | 127821547 | | | 2:g.127821547A>G | - | | |
NM_139343.3(BIN1):c.636C>T (p.Ala212=) | 274 | BIN1 | Likely benign | 201238412 | RCV000636915|RCV001423758; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821571 | 127821571 | | | 2:g.127821571G>A | ClinGen:CA1857395 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.630C>T (p.Ile210=) | 274 | BIN1 | Likely benign | 886038728 | RCV000241976|RCV000636921; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821577 | 127821577 | | | 2:g.127821577G>A | ClinGen:CA10586751 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.618G>A (p.Glu206=) | 274 | BIN1 | Likely benign | -1 | RCV002785326; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821589 | 127821589 | | | | - | | |
NM_139343.3(BIN1):c.615C>T (p.Ala205=) | 274 | BIN1 | Likely benign | 748308882 | RCV001442255; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821592 | 127821592 | | | 127821592 | - | | |
NM_139343.3(BIN1):c.615C>G (p.Ala205=) | 274 | BIN1 | Likely benign | 748308882 | RCV001453792; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821592 | 127821592 | | | 127821592 | - | | |
NM_139343.3(BIN1):c.613-5C>G | 274 | BIN1 | Likely benign | 1408065039 | RCV000555336; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821599 | 127821599 | | | NC_000002.11:g.127821599G>C | ClinGen:CA535638772 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.613-9G>T | 274 | BIN1 | Likely benign | 1009608542 | RCV002106164; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821603 | 127821603 | | | 127821603 | - | | |
NM_139343.3(BIN1):c.613-14G>A | 274 | BIN1 | Likely benign | 770168243 | RCV002208175; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127821608 | 127821608 | | | 127821608 | - | | |
NC_000002.11:g.(?_127825719)_(127828412_?)dup | 274 | BIN1 | Uncertain significance | -1 | RCV003123122; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825719 | 127828412 | | | | - | | |
NM_139343.3(BIN1):c.612+18C>A | 274 | BIN1 | Likely benign | 572040801 | RCV002126633; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825721 | 127825721 | | | 127825721 | - | | |
NM_139343.3(BIN1):c.604C>T (p.Arg202Ter) | 274 | BIN1 | Uncertain significance | 762897872 | RCV001307711; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825747 | 127825747 | | | 127825747 | - | | |
NM_139343.3(BIN1):c.603C>T (p.Leu201=) | 274 | BIN1 | Likely benign | -1 | RCV002606146; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825748 | 127825748 | | | | - | | |
NM_139343.3(BIN1):c.596A>T (p.Asn199Ile) | 274 | BIN1 | Uncertain significance | 2105049284 | RCV002050616; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825755 | 127825755 | | | 127825755 | - | | |
NM_139343.3(BIN1):c.582C>T (p.Leu194=) | 274 | BIN1 | Likely benign | 1319287534 | RCV002198397; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825769 | 127825769 | | | 127825769 | - | | |
NM_139343.3(BIN1):c.574G>T (p.Ala192Ser) | 274 | BIN1 | Uncertain significance | -1 | RCV003032975; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825777 | 127825777 | | | NC_000002.11:g.127825777C>A | - | | |
NM_139343.3(BIN1):c.570G>T (p.Leu190=) | 274 | BIN1 | Likely benign | 767620839 | RCV001502341; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825781 | 127825781 | | | 127825781 | - | | |
NM_139343.3(BIN1):c.550C>G (p.Gln184Glu) | 274 | BIN1 | Uncertain significance | 777940512 | RCV001204669; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825801 | 127825801 | | | 2:g.127825801G>C | - | | |
NM_139343.3(BIN1):c.546C>T (p.Ala182=) | 274 | BIN1 | Likely benign | 147149003 | RCV002548424; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825805 | 127825805 | | | 2:g.127825805G>A | - | | |
NM_139343.3(BIN1):c.544G>A (p.Ala182Thr) | 274 | BIN1 | Uncertain significance | 779607755 | RCV001342312; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825807 | 127825807 | | | 127825807 | - | | |
NM_139343.3(BIN1):c.528G>T (p.Ser176=) | 274 | BIN1 | Likely benign | -1 | RCV002971858; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825823 | 127825823 | | | | - | | |
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu) | 274 | BIN1 | Uncertain significance | 776075897 | RCV001037966; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825824 | 127825824 | | | 2:g.127825824G>A | - | | |
NM_139343.3(BIN1):c.520-3C>A | 274 | BIN1 | Uncertain significance | 1455432609 | RCV002040700; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825834 | 127825834 | | | 127825834 | - | | |
NM_139343.3(BIN1):c.520-6C>T | 274 | BIN1 | Likely benign | 367953762 | RCV001426018; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825837 | 127825837 | | | 127825837 | - | | |
NM_139343.3(BIN1):c.520-8C>T | 274 | BIN1 | Likely benign | 769133774 | RCV002145491; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825839 | 127825839 | | | 127825839 | - | | |
NM_139343.3(BIN1):c.520-9C>G | 274 | BIN1 | Likely benign | 1685399315 | RCV001317919; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825840 | 127825840 | | | 127825840 | - | | |
NM_139343.3(BIN1):c.520-13C>T | 274 | BIN1 | Likely benign | -1 | RCV002598152; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825844 | 127825844 | | | NC_000002.11:g.127825844G>A | - | | |
NM_139343.3(BIN1):c.520-16G>T | 274 | BIN1 | Likely benign | 766300039 | RCV002108640; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127825847 | 127825847 | | | 127825847 | - | | |
NM_139343.3(BIN1):c.519+15C>T | 274 | BIN1 | Likely benign | -1 | RCV002667313; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826485 | 127826485 | | | NC_000002.11:g.127826485G>A | - | | |
NM_139343.3(BIN1):c.519+6G>T | 274 | BIN1 | Uncertain significance | -1 | RCV003108823; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826494 | 127826494 | | | NC_000002.11:g.127826494C>A | - | | |
NM_139343.3(BIN1):c.519+4A>G | 274 | BIN1 | Uncertain significance | 1429919147 | RCV000697627; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826496 | 127826496 | | | NC_000002.11:g.127826496T>C | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.493AAG[1] (p.Lys166del) | 274 | BIN1 | Uncertain significance | 775374523 | RCV001893583; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826521 | 127826523 | | | 127826520 | - | | |
NM_139343.3(BIN1):c.486T>C (p.Thr162=) | 274 | BIN1 | Benign/Likely benign | 1060743 | RCV000145343|RCV000349850; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826533 | 127826533 | | | 2:g.127826533A>G | ClinGen:CA171401 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.478C>T (p.Leu160Phe) | 274 | BIN1 | Uncertain significance | 1685511003 | RCV001242608|RCV002564035; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MeSH:D030342,MedGen:C0950123 | 2 | 127826541 | 127826541 | | | 2:g.127826541G>A | - | | |
NM_139343.3(BIN1):c.472G>A (p.Glu158Lys) | 274 | BIN1 | Uncertain significance | 764377144 | RCV000636907; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826547 | 127826547 | | | NC_000002.11:g.127826547C>T | ClinGen:CA1857470 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.471C>T (p.Tyr157=) | 274 | BIN1 | Likely benign | 138885327 | RCV000606200|RCV000874522; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826548 | 127826548 | | | 2:g.127826548G>A | ClinGen:CA1857471 | CN169374 not specified; | |
NM_139343.3(BIN1):c.469T>C (p.Tyr157His) | 274 | BIN1 | Uncertain significance | 1553466026 | RCV000545195|RCV001770423; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN517202 | 2 | 127826550 | 127826550 | | | NC_000002.11:g.127826550A>G | ClinGen:CA348367773 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 267606681 | RCV000008798; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826558 | 127826558 | | | 2:g.127826558C>T | OMIM:601248.0004,ClinGen:CA119462 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.460C>T (p.Arg154Trp) | 274 | BIN1 | Uncertain significance | 761914168 | RCV000811248; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826559 | 127826559 | | | 2:g.127826559G>A | - | | |
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn) | 274 | BIN1 | Pathogenic | 121909274 | RCV000008796; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826568 | 127826568 | | | 2:g.127826568C>T | ClinGen:CA119459,UniProtKB:O00499#VAR_037426,OMIM:601248.0002 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.450C>T (p.Tyr150=) | 274 | BIN1 | Likely benign | 550177667 | RCV001475442|RCV003434261; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127826569 | 127826569 | | | 127826569 | - | | |
NM_139343.3(BIN1):c.438G>A (p.Lys146=) | 274 | BIN1 | Likely benign | 760028920 | RCV001450668; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826581 | 127826581 | | | 2:g.127826581C>T | - | | |
NM_139343.3(BIN1):c.434G>A (p.Arg145His) | 274 | BIN1 | Uncertain significance | 1219115067 | RCV001208067; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826585 | 127826585 | | | 2:g.127826585C>T | - | | |
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) | 274 | BIN1 | Likely pathogenic | 1249621033 | RCV000754844; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826586 | 127826586 | | | NC_000002.11:g.127826586G>A | OMIM:601248.0006 | | |
NM_139343.3(BIN1):c.430_432del (p.Gly144del) | 274 | BIN1 | Uncertain significance | 1685516331 | RCV001229874; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826587 | 127826589 | | | 2:g.127826587_127826589del | - | | |
NM_139343.3(BIN1):c.432G>A (p.Gly144=) | 274 | BIN1 | Likely benign | 758913903 | RCV002123566; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826587 | 127826587 | | | 127826587 | - | | |
NM_139343.3(BIN1):c.432G>T (p.Gly144=) | 274 | BIN1 | Likely benign | -1 | RCV002717249; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826587 | 127826587 | | | | - | | |
NM_139343.3(BIN1):c.430G>A (p.Gly144Arg) | 274 | BIN1 | Uncertain significance | 1685516968 | RCV001314744; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826589 | 127826589 | | | 127826589 | - | | |
NM_139343.3(BIN1):c.418A>C (p.Ile140Leu) | 274 | BIN1 | Uncertain significance | 1407049344 | RCV001242127; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826601 | 127826601 | | | 2:g.127826601T>G | - | | |
NM_139343.3(BIN1):c.412-4C>T | 274 | BIN1 | Likely benign | -1 | RCV003089389; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826611 | 127826611 | | | NC_000002.11:g.127826611G>A | - | | |
NM_139343.3(BIN1):c.412-11G>C | 274 | BIN1 | Likely benign | 2105059266 | RCV002195801; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826618 | 127826618 | | | 127826618 | - | | |
NM_139343.3(BIN1):c.412-15C>T | 274 | BIN1 | Likely benign | -1 | RCV002600747; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826622 | 127826622 | | | NC_000002.11:g.127826622G>A | - | | |
NM_139343.3(BIN1):c.412-25T>C | 274 | BIN1 | Benign | 67327804 | RCV000837704|RCV001554067; | N | MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127826632 | 127826632 | | | 2:g.127826632A>G | - | | |
NM_139343.3(BIN1):c.411+15T>G | 274 | BIN1 | Likely benign | -1 | RCV003036445; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827556 | 127827556 | | | NC_000002.11:g.127827556A>C | - | | |
NM_139343.3(BIN1):c.411+5G>C | 274 | BIN1 | Uncertain significance | -1 | RCV002604493; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827566 | 127827566 | | | NC_000002.11:g.127827566C>G | - | | |
NM_139343.3(BIN1):c.411+1G>T | 274 | BIN1 | Uncertain significance | -1 | RCV002846702; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827570 | 127827570 | | | NC_000002.11:g.127827570C>A | - | | |
NM_139343.3(BIN1):c.405C>T (p.Asp135=) | 274 | BIN1 | Likely benign | 956631103 | RCV002540001; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827577 | 127827577 | | | 2:g.127827577G>A | - | | |
NM_139343.3(BIN1):c.403G>A (p.Asp135Asn) | 274 | BIN1 | Uncertain significance | -1 | RCV002602175|RCV002617362; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MeSH:D030342,MedGen:C0950123 | 2 | 127827579 | 127827579 | | | NC_000002.11:g.127827579C>T | - | | |
NM_139343.3(BIN1):c.402C>T (p.Pro134=) | 274 | BIN1 | Likely benign | 144136512 | RCV000245446|RCV000877189|RCV001722355; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127827580 | 127827580 | | | 2:g.127827580G>A | ClinGen:CA1857494 | CN169374 not specified; | |
NM_139343.3(BIN1):c.399C>T (p.Phe133=) | 274 | BIN1 | Likely benign | 755303195 | RCV002209498; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827583 | 127827583 | | | 127827583 | - | | |
NM_139343.3(BIN1):c.393C>T (p.Gly131=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 1455926606 | RCV000695525|RCV003437399; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127827589 | 127827589 | | | 2:g.127827589G>A | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.385T>C (p.Tyr129His) | 274 | BIN1 | Uncertain significance | 2105069995 | RCV002031138; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827597 | 127827597 | | | 127827597 | - | | |
NM_139343.3(BIN1):c.384G>A (p.Thr128=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 61748158 | RCV000403883|RCV000610549; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN169374 | 2 | 127827598 | 127827598 | | | NC_000002.11:g.127827598C>T | ClinGen:CA1857497 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.382_383dup (p.Tyr129fs) | 274 | BIN1 | Uncertain significance | 761813363 | RCV000687106; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827598 | 127827599 | | | NC_000002.11:g.127827599GT[3] | - | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.376A>G (p.Met126Val) | 274 | BIN1 | Uncertain significance | -1 | RCV003143794; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827606 | 127827606 | | | NC_000002.11:g.127827606T>C | - | | |
NM_139343.3(BIN1):c.366G>A (p.Ala122=) | 274 | BIN1 | Likely benign | -1 | RCV002766257; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827616 | 127827616 | | | | - | | |
NM_139343.3(BIN1):c.345C>T (p.His115=) | 274 | BIN1 | Likely benign | -1 | RCV002637779; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827637 | 127827637 | | | | - | | |
NM_139343.3(BIN1):c.330G>A (p.Leu110=) | 274 | BIN1 | Uncertain significance | 746946704 | RCV000314987; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827652 | 127827652 | | | NC_000002.11:g.127827652C>T | ClinGen:CA1857504 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.330G>C (p.Leu110=) | 274 | BIN1 | Likely benign | 746946704 | RCV002196927; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827652 | 127827652 | | | 127827652 | - | | |
NM_139343.3(BIN1):c.329T>A (p.Leu110Gln) | 274 | BIN1 | Uncertain significance | 2105070437 | RCV002018222; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827653 | 127827653 | | | 127827653 | - | | |
NM_139343.3(BIN1):c.327G>A (p.Leu109=) | 274 | BIN1 | Likely benign | 920170949 | RCV001436786; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827655 | 127827655 | | | 127827655 | - | | |
NM_139343.3(BIN1):c.322G>A (p.Asp108Asn) | 274 | BIN1 | Uncertain significance | 532260569 | RCV001928983; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827660 | 127827660 | | | 127827660 | - | | |
NM_139343.3(BIN1):c.321C>T (p.Asn107=) | 274 | BIN1 | Likely benign | 529323298 | RCV002175912; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827661 | 127827661 | | | 127827661 | - | | |
NM_139343.3(BIN1):c.316-11G>T | 274 | BIN1 | Likely benign | -1 | RCV002953346; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827677 | 127827677 | | | NC_000002.11:g.127827677C>A | - | | |
NM_139343.3(BIN1):c.316-19G>A | 274 | BIN1 | Benign/Likely benign | 369840788 | RCV000253636|RCV002058402; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127827685 | 127827685 | | | 2:g.127827685C>T | ClinGen:CA1857508 | CN169374 not specified; | |
NM_139343.3(BIN1):c.315+7A>C | 274 | BIN1 | Likely benign | 1573647825 | RCV000982826; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828122 | 127828122 | | | 2:g.127828122T>G | - | | |
NM_139343.3(BIN1):c.315+3G>C | 274 | BIN1 | Uncertain significance | 764821578 | RCV001202482; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828126 | 127828126 | | | 2:g.127828126C>G | - | | |
NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu) | 274 | BIN1 | Uncertain significance | -1 | RCV002745767; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828130 | 127828131 | | | NC_000002.11:g.127828130_127828131delinsAA | - | | |
NM_139343.3(BIN1):c.313G>A (p.Glu105Lys) | 274 | BIN1 | Uncertain significance | 1685745258 | RCV001215101; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828131 | 127828131 | | | 2:g.127828131C>T | - | | |
NM_139343.3(BIN1):c.310G>A (p.Ala104Thr) | 274 | BIN1 | Uncertain significance | 754932468 | RCV001369553; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828134 | 127828134 | | | 127828134 | - | | |
NM_139343.3(BIN1):c.309C>T (p.Ile103=) | 274 | BIN1 | Likely benign | 151288388 | RCV001452849; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828135 | 127828135 | | | 127828135 | - | | |
NM_139343.3(BIN1):c.286G>A (p.Gly96Ser) | 274 | BIN1 | Uncertain significance | 769724273 | RCV000819262; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828158 | 127828158 | | | 2:g.127828158C>T | - | | |
NM_139343.3(BIN1):c.285C>T (p.Pro95=) | 274 | BIN1 | Likely benign | 377467117 | RCV001405026; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828159 | 127828159 | | | 2:g.127828159G>A | - | | |
NM_139343.3(BIN1):c.285C>A (p.Pro95=) | 274 | BIN1 | Likely benign | 377467117 | RCV000877502; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828159 | 127828159 | | | 2:g.127828159G>T | - | | |
NM_139343.3(BIN1):c.279T>C (p.Asp93=) | 274 | BIN1 | Likely benign | 770994335 | RCV000542004; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828165 | 127828165 | | | NC_000002.11:g.127828165A>G | ClinGen:CA1857529 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu) | 274 | BIN1 | Uncertain significance | 770994335 | RCV001238014|RCV001760256; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN517202 | 2 | 127828165 | 127828165 | | | 2:g.127828165A>T | - | | |
NM_139343.3(BIN1):c.277G>T (p.Asp93Tyr) | 274 | BIN1 | Uncertain significance | 774273606 | RCV001315537; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828167 | 127828167 | | | 127828167 | - | | |
NM_139343.3(BIN1):c.277G>A (p.Asp93Asn) | 274 | BIN1 | Uncertain significance | 774273606 | RCV001327887; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828167 | 127828167 | | | 127828167 | - | | |
NM_139343.3(BIN1):c.276C>T (p.Pro92=) | 274 | BIN1 | Likely benign | 1013293394 | RCV000876825; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828168 | 127828168 | | | 2:g.127828168G>A | - | | |
NM_139343.3(BIN1):c.259C>T (p.Gln87Ter) | 274 | BIN1 | Uncertain significance | 2105075896 | RCV002015089; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828185 | 127828185 | | | 127828185 | - | | |
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg) | 274 | BIN1 | Uncertain significance | -1 | RCV003143790; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828205 | 127828205 | | | NC_000002.11:g.127828205T>C | - | | |
NM_139343.3(BIN1):c.236C>T (p.Ser79Phe) | 274 | BIN1 | Uncertain significance | 1377099769 | RCV001966428; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828208 | 127828208 | | | 127828208 | - | | |
NM_139343.3(BIN1):c.229G>A (p.Glu77Lys) | 274 | BIN1 | Uncertain significance | 1685759135 | RCV001245547; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828215 | 127828215 | | | 2:g.127828215C>T | - | | |
NM_139343.3(BIN1):c.228C>T (p.His76=) | 274 | BIN1 | Likely benign | 754621895 | RCV002075367; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828216 | 127828216 | | | 127828216 | - | | |
NM_139343.3(BIN1):c.224T>C (p.Met75Thr) | 274 | BIN1 | Uncertain significance | 1024658796 | RCV001350205; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828220 | 127828220 | | | 127828220 | - | | |
NM_139343.3(BIN1):c.222C>T (p.Ala74=) | 274 | BIN1 | Likely benign | 2105076332 | RCV002091522; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828222 | 127828222 | | | 127828222 | - | | |
NM_139343.3(BIN1):c.221-8C>T | 274 | BIN1 | Likely benign | 750040017 | RCV000636903; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828231 | 127828231 | | | 2:g.127828231G>A | ClinGen:CA1857536 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.220+15_220+21del | 274 | BIN1 | Likely benign | -1 | RCV003022335; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828317 | 127828323 | | | NC_000002.11:g.127828320_127828326del | - | | |
NM_139343.3(BIN1):c.220+19G>A | 274 | BIN1 | Likely benign | 775915004 | RCV002143557; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828319 | 127828319 | | | 127828319 | - | | |
NM_139343.3(BIN1):c.220+18C>T | 274 | BIN1 | Likely benign | 761189061 | RCV002194360; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828320 | 127828320 | | | 127828320 | - | | |
NM_139343.3(BIN1):c.220+4G>A | 274 | BIN1 | Uncertain significance | -1 | RCV003112938; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828334 | 127828334 | | | NC_000002.11:g.127828334C>T | - | | |
NM_139343.3(BIN1):c.213C>T (p.Ser71=) | 274 | BIN1 | Likely benign | 560078675 | RCV000636913; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828345 | 127828345 | | | NC_000002.11:g.127828345G>A | ClinGen:CA1857556 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.193C>A (p.Leu65Ile) | 274 | BIN1 | Uncertain significance | 2105078067 | RCV001889098; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828365 | 127828365 | | | 127828365 | - | | |
NM_139343.3(BIN1):c.179G>A (p.Arg60Gln) | 274 | BIN1 | Uncertain significance | 1558835946 | RCV001872341; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828379 | 127828379 | | | 127828379 | - | | |
NM_139343.3(BIN1):c.173G>T (p.Gly58Val) | 274 | BIN1 | Uncertain significance | 1282156307 | RCV000794378; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828385 | 127828385 | | | 2:g.127828385C>A | - | | |
NM_139343.3(BIN1):c.168G>A (p.Thr56=) | 274 | BIN1 | Uncertain significance | 528828320 | RCV001068838; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828390 | 127828390 | | | 2:g.127828390C>T | - | | |
NM_139343.3(BIN1):c.167C>T (p.Thr56Met) | 274 | BIN1 | Uncertain significance | -1 | RCV002587322|RCV002600183; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828391 | 127828391 | | | NC_000002.11:g.127828391G>A | - | | |
NM_139343.3(BIN1):c.166-13C>T | 274 | BIN1 | Likely benign | 1182776886 | RCV002075805; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828405 | 127828405 | | | 127828405 | - | | |
NM_139343.3(BIN1):c.166-16G>T | 274 | BIN1 | Likely benign | -1 | RCV002885724; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127828408 | 127828408 | | | NC_000002.11:g.127828408C>A | - | | |
NC_000002.11:g.(?_127834182)_(127864519_?)dup | 274 | BIN1 | Uncertain significance | -1 | RCV003123121; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834182 | 127864519 | | | | - | | |
NM_139343.3(BIN1):c.165+13G>A | 274 | BIN1 | Likely benign | 2105143217 | RCV002086160; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834189 | 127834189 | | | 127834189 | - | | |
NM_139343.3(BIN1):c.165+6T>C | 274 | BIN1 | Uncertain significance | 763931802 | RCV001038656; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834196 | 127834196 | | | 2:g.127834196A>G | - | | |
NM_139343.3(BIN1):c.165+1G>A | 274 | BIN1 | Uncertain significance | -1 | RCV002843121; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834201 | 127834201 | | | NC_000002.11:g.127834201C>T | - | | |
NM_139343.3(BIN1):c.155A>G (p.Asn52Ser) | 274 | BIN1 | Uncertain significance | 369549551 | RCV002009891; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834212 | 127834212 | | | 127834212 | - | | |
NM_139343.3(BIN1):c.142G>A (p.Val48Ile) | 274 | BIN1 | Uncertain significance | -1 | RCV002647324; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834225 | 127834225 | | | NC_000002.11:g.127834225C>T | - | | |
NM_139343.3(BIN1):c.141C>T (p.Cys47=) | 274 | BIN1 | Likely benign | 747090652 | RCV001464393; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834226 | 127834226 | | | 127834226 | - | | |
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn) | 274 | BIN1 | Pathogenic | 121909273 | RCV000008795; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834262 | 127834262 | | | 2:g.127834262C>A | ClinGen:CA119458,UniProtKB:O00499#VAR_037425,OMIM:601248.0001 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.85-5G>A | 274 | BIN1 | Uncertain significance | 371593265 | RCV000636906; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834287 | 127834287 | | | 2:g.127834287C>T | ClinGen:CA1857595 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.85-6C>T | 274 | BIN1 | Likely benign | 200855894 | RCV000636919; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834288 | 127834288 | | | NC_000002.11:g.127834288G>A | ClinGen:CA1857596 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.85-14C>T | 274 | BIN1 | Likely benign | 1191884719 | RCV002113905; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834296 | 127834296 | | | 127834296 | - | | |
NM_139343.3(BIN1):c.85-18C>G | 274 | BIN1 | Likely benign | 953081488 | RCV002102096; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127834300 | 127834300 | | | 127834300 | - | | |
NM_139343.3(BIN1):c.84+4287G>T | 274 | BIN1 | Benign | 755639 | RCV002121095; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127860149 | 127860149 | | | 127860149 | - | | |
NC_000002.11:g.(?_127864416)_(127864519_?)dup | 274 | BIN1 | Uncertain significance | -1 | RCV001919175; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864416 | 127864519 | | | -1 | - | | |
NM_139343.3(BIN1):c.84+19dup | 274 | BIN1 | Likely benign | 751236360 | RCV002161396; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864416 | 127864417 | | | 127864416 | - | | |
NM_139343.3(BIN1):c.84+16C>G | 274 | BIN1 | Likely benign | -1 | RCV002595522; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864420 | 127864420 | | | NC_000002.11:g.127864420G>C | - | | |
NM_139343.3(BIN1):c.84+14A>T | 274 | BIN1 | Uncertain significance | 2105378351 | RCV001979500; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864422 | 127864422 | | | 127864422 | - | | |
NM_139343.3(BIN1):c.84+11C>T | 274 | BIN1 | Likely benign | -1 | RCV002610001; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864425 | 127864425 | | | NC_000002.11:g.127864425G>A | - | | |
NC_000002.12:g.(?_127106850)_(127106953_?)dup | 274 | BIN1 | Uncertain significance | -1 | RCV001033904; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864426 | 127864529 | | | -1 | - | | |
NM_139343.3(BIN1):c.84+10C>A | 274 | BIN1 | Likely benign | -1 | RCV002871252; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864426 | 127864426 | | | NC_000002.11:g.127864426G>T | - | | |
NM_139343.3(BIN1):c.84+9G>A | 274 | BIN1 | Uncertain significance | 762680903 | RCV000334262; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864427 | 127864427 | | | NC_000002.11:g.127864427C>T | ClinGen:CA1857621 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.84+6C>A | 274 | BIN1 | Uncertain significance | -1 | RCV002900109; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864430 | 127864430 | | | NC_000002.11:g.127864430G>T | - | | |
NM_139343.3(BIN1):c.84+1G>A | 274 | BIN1 | Uncertain significance | 1364583460 | RCV001373656; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864435 | 127864435 | | | 127864435 | - | | |
NM_139343.3(BIN1):c.84G>C (p.Lys28Asn) | 274 | BIN1 | Uncertain significance | 1681229622 | RCV001348078; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864436 | 127864436 | | | 127864436 | - | | |
NM_139343.3(BIN1):c.72C>T (p.Arg24=) | 274 | BIN1 | Likely benign | 1681233008 | RCV001215969; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864448 | 127864448 | | | 2:g.127864448G>A | - | | |
NM_139343.3(BIN1):c.70C>G (p.Arg24Gly) | 274 | BIN1 | Uncertain significance | 2105378684 | RCV001912322; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864450 | 127864450 | | | 127864450 | - | | |
NM_139343.3(BIN1):c.61A>C (p.Lys21Gln) | 274 | BIN1 | Uncertain significance | -1 | RCV002999532; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864459 | 127864459 | | | NC_000002.11:g.127864459T>G | - | | |
NM_139343.3(BIN1):c.57G>C (p.Gln19His) | 274 | BIN1 | Uncertain significance | 142657993 | RCV001986782; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864463 | 127864463 | | | 127864463 | - | | |
NM_139343.3(BIN1):c.55C>G (p.Gln19Glu) | 274 | BIN1 | Uncertain significance | 2105378861 | RCV002007731; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864465 | 127864465 | | | 127864465 | - | | |
NM_139343.3(BIN1):c.52G>A (p.Val18Met) | 274 | BIN1 | Uncertain significance | 566597765 | RCV001071070|RCV001760053; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127864468 | 127864468 | | | 2:g.127864468C>T | - | | |
NM_139343.3(BIN1):c.51C>G (p.Asn17Lys) | 274 | BIN1 | Uncertain significance | 2105378914 | RCV001895160; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864469 | 127864469 | | | 127864469 | - | | |
NM_139343.3(BIN1):c.30G>A (p.Thr10=) | 274 | BIN1 | Conflicting interpretations of pathogenicity | 35535012 | RCV000145342|RCV000724179; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127864490 | 127864490 | | | 2:g.127864490C>T | ClinGen:CA171399 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.29C>A (p.Thr10Lys) | 274 | BIN1 | Uncertain significance | 1681237812 | RCV001327643; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864491 | 127864491 | | | 127864491 | - | | |
NM_139343.3(BIN1):c.29C>T (p.Thr10Met) | 274 | BIN1 | Uncertain significance | -1 | RCV002700241; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864491 | 127864491 | | | NC_000002.11:g.127864491G>A | - | | |
NM_139343.3(BIN1):c.27G>A (p.Val9=) | 274 | BIN1 | Likely benign | -1 | RCV003055064; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864493 | 127864493 | | | | - | | |
NM_139343.3(BIN1):c.9G>C (p.Glu3Asp) | 274 | BIN1 | Uncertain significance | 558639756 | RCV000559491; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864511 | 127864511 | | | NC_000002.11:g.127864511C>G | ClinGen:CA1857627 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.5C>T (p.Ala2Val) | 274 | BIN1 | Uncertain significance | -1 | RCV002810413; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864515 | 127864515 | | | NC_000002.11:g.127864515G>A | - | | |
NM_139343.3(BIN1):c.-27C>T | 274 | BIN1 | Benign | 11554586 | RCV000252497|RCV000299689; | N | MedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864546 | 127864546 | | | 2:g.127864546G>A | ClinGen:CA1857630 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.-62G>A | 274 | BIN1 | Uncertain significance | 886054836 | RCV000356829; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864581 | 127864581 | | | NC_000002.11:g.127864581C>T | ClinGen:CA10610724 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.-105G>T | 274 | BIN1 | Uncertain significance | 575072529 | RCV001136348; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864624 | 127864624 | | | 2:g.127864624C>A | - | | |
NM_139343.3(BIN1):c.-105G>C | 274 | BIN1 | Uncertain significance | 575072529 | RCV001136349; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864624 | 127864624 | | | 2:g.127864624C>G | - | | |
NM_139343.3(BIN1):c.-114del | 274 | BIN1 | Uncertain significance | 886054837 | RCV000264305; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864633 | 127864633 | | | NC_000002.11:g.127864634del | ClinGen:CA10612174 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.-146C>G | 274 | BIN1 | Uncertain significance | 1462553382 | RCV001136350; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864665 | 127864665 | | | 2:g.127864665G>C | - | | |
NM_139343.3(BIN1):c.-163T>C | 274 | BIN1 | Uncertain significance | 560690864 | RCV000303136; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864682 | 127864682 | | | NC_000002.11:g.127864682A>G | ClinGen:CA10610725 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.-177_-174dup | 274 | BIN1 | Uncertain significance | 886054838 | RCV000360110; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864692 | 127864693 | | | NC_000002.11:g.127864696_127864699dup | ClinGen:CA10612175 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.-192G>A | 274 | BIN1 | Uncertain significance | 886054839 | RCV000267839; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864711 | 127864711 | | | NC_000002.11:g.127864711C>T | ClinGen:CA10612185 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.3(BIN1):c.-197C>A | 274 | BIN1 | Uncertain significance | 886054840 | RCV000325664; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864716 | 127864716 | | | NC_000002.11:g.127864716G>T | ClinGen:CA10610727 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.2(BIN1):c.-214T>G | 274 | BIN1 | Uncertain significance | 886054841 | RCV000382584; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864733 | 127864733 | | | NC_000002.11:g.127864733A>C | ClinGen:CA10612188 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.2(BIN1):c.-272G>A | 274 | BIN1 | Uncertain significance | 886054842 | RCV000271831; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864791 | 127864791 | | | NC_000002.11:g.127864791C>T | ClinGen:CA10612069 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.2(BIN1):c.-314G>C | 274 | BIN1 | Uncertain significance | 531361957 | RCV000329240; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864833 | 127864833 | | | NC_000002.11:g.127864833C>G | ClinGen:CA10612076 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.2(BIN1):c.-366C>A | 274 | BIN1 | Uncertain significance | 886054843 | RCV000385865; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186 | 2 | 127864885 | 127864885 | | | NC_000002.11:g.127864885G>T | ClinGen:CA10610729 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NM_139343.2(BIN1):c.-389T>A | 274 | BIN1 | Benign/Likely benign | 56827597 | RCV000336665|RCV001618681; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900 | 2 | 127864908 | 127864908 | | | 2:g.127864908A>T | ClinGen:CA10654605 | C0410204 255200 Autosomal recessive centronuclear myopathy; | |
NC_000002.11:g.(?_127806102)_(128432598_?)del | -1 | BIN1;CYP27C1;ERCC3;GPR17;IWS1;LIMS2;MAP3K2;MYO7B;P | Uncertain significance | -1 | RCV001916346|RCV001928002; | N | MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801 | 2 | 127806102 | 128432598 | | | -1 | - | | |
NM_001267550.2(TTN):c.34930+2T>C | 7273 | TTN | Uncertain significance | 749252830 | RCV000597258|RCV001050674|RCV001535718; | N | MedGen:CN517202|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, | 2 | 179537132 | 179537132 | | | 2:g.179537132A>G | ClinGen:CA1997937 | C1858763 604145 Dilated cardiomyopathy 1G; | |