NM_004273.4:c.533dup | Lebanon | NC_000010.11:g.72007564dup | Likely Pathogenic, Pathogenic | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48203dup; NM_004273.4:c.533dup; NP_004264.2:p.Ala179ArgfsTer141 | 769540174 | 432012 |
NM_004273.4:c.718A>T | Lebanon | NC_000010.11:g.72007749A>T | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48388A>T; NM_004273.4:c.718A>T; NP_004264.2:p.Lys240Ter | 1812783048 | |
NM_004273.5:c.1_1440del | Morocco | NC_000010.11:g.72005843_72008471del | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.46482_49110del; NM_004273.5:c.1_1440del | | |
NM_004273.5:c.1083_1090delinsCGGCA | Lebanon | NC_000010.11:g.72008114_72008121delinsCGGCA | | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48753_48760delinsCGGCA; NM_004273.5:c.1083_1090delinsCGGCA; NP_004264.2:p.Trp361_Gly364delinsCysGlySer | | |
NM_004273.5:c.1086delG | Lebanon | chr10:72008117 | Pathogenic | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48756delG; NM_004273.5:c.1086delG; NP_004264.2:p.Arg363fs | 1589509884 | 6045 |
NM_004273.5:c.1114G>A | Lebanon | NC_000010.11:g.72008145G>A | Pathogenic | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48784G>A; NM_004273.5:c.1114G>A; NP_004264.2:p.Glu372Lys | 267606734 | 6042 |
NM_004273.5:c.1148G>C | Lebanon | chr10:72008179 | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48818G>C; NM_004273.5:c.1148G>C; NP_004264.2:p.Arg383Pro | 531087608 | |
NM_004273.5:c.1285C>T | Lebanon | NC_000010.11:g.72008316C>T | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48955C>T; NM_004273.5:c.1285C>T; NP_004264.2:p.Arg429Cys | | |
NM_004273.5:c.141G>C | Lebanon | chr10:72007172 | | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.47811G>A; NM_004273.5:c.141G>C; NP_004264.2:p.Arg47Ser | 1564531780 | |
NM_004273.5:c.425G>T | Lebanon | chr10:72007456 | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48095G>T; NM_004273.5:c.425G>T; NP_004264.2:p.Arg142Leu | 898835385 | |
NM_004273.5:c.475T>A | Lebanon | NC_000010.11:g.72007506T>A | Likely Pathogenic, Uncertain Significance | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48145T>A; NM_004273.5:c.475T>A; NP_004264.2:p.Phe159Ile | 145538723 | 6049 |
NM_004273.5:c.481C>T | Lebanon | chr10:72007512 | Pathogenic | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48151C>T; NM_004273.5:c.481C>T; NP_004264.2:p.Leu161Phe | 267606733 | 6050 |
NM_004273.5:c.501C>A | Lebanon | chr10:72007532 | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48171C>G; NM_004273.5:c.501C>A; NP_004264.2:p.His167Gln | 760637097 | |
NM_004273.5:c.603C>A | Lebanon | chr10:72007634 | Pathogenic | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48273C>A; NM_004273.5:c.603C>A; NP_004264.2:p.Tyr201Ter | 121908619 | 6046 |
NM_004273.5:c.617_618inv | Lebanon | NC_000010.11:g.72007648_72007649inv | | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48287_48288inv; NM_004273.5:c.617_618inv; NP_004264.2:p.Phe206Ter | | |
NM_004273.5:c.620T>G | Lebanon | NC_000010.11:g.72007651T>G | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48290T>G; NM_004273.5:c.620T>G; NP_004264.2:p.Ile207Ser | | |
NM_004273.5:c.661C>T | Lebanon | chr10:72007692 | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48331C>T; NM_004273.5:c.661C>T; NP_004264.2:p.Arg221Cys | 746848315 | |
NM_004273.5:c.664C>T | Lebanon | chr10:72007695 | Pathogenic | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48334C>T; NM_004273.5:c.664C>T; NP_004264.2:p.Arg222Trp | 121908617 | 6043 |
NM_004273.5:c.665G>T | Saudi Arabia | NC_000010.11:g.72007696G>T | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48335G>T; NM_004273.5:c.665G>T; NP_004264.2:p.Arg222Leu | 1437776489 | |
NM_004273.5:c.675C>A | Lebanon | chr10:72007706 | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48345C>A; NM_004273.5:c.675C>A; NP_004264.2:p.Ser225Arg | 771098871 | |
NM_004273.5:c.758G>A | Lebanon | chr10:72007789 | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48428G>A; NM_004273.5:c.758G>A; NP_004264.2:p.Gly253Asp | 1564532372 | |
NM_004273.5:c.776T>C | Lebanon; Syria | chr10:72007807 | Pathogenic | Likely Pathogenic, Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48446T>C; NM_004273.5:c.776T>C; NP_004264.2:p.Leu259Pro | 121908616 | 6041 |
NM_004273.5:c.791G>A | Lebanon | chr10:72007822 | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48461G>A; NM_004273.5:c.791G>A; NP_004264.2:p.Cys264Tyr | 942951728 | |
NM_004273.5:c.911G>A | Oman | NC_000010.11:g.72007942G>A | Pathogenic, Uncertain Significance | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48581G>A; NM_004273.5:c.911G>A; NP_004264.2:p.Arg304Gln | 28937593 | 6040 |
NM_004273.5:c.920T>C | Lebanon | chr10:72007951 | Pathogenic | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48590T>C; NM_004273.5:c.920T>C; NP_004264.2:p.Leu307Pro | 121908618 | 6044 |
NM_004273.5:c.928C>T | Lebanon | chr10:72007959 | | Likely Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48598C>T; NM_004273.5:c.928C>T; NP_004264.2:p.Arg310Cys | 1215036898 | |
NM_004273.5:c.988C>T | Lebanon | chr10:72008019 | Pathogenic | Pathogenic | Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | NG_012635.1:g.48658C>T; NM_004273.5:c.988C>T; NP_004264.2:p.Gln330Ter | 267606732 | 6051 |