Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000451.3(SHOX):c.304G>T (p.Glu102Ter) | 6473 | SHOX | Pathogenic | 137852558 | RCV000010559; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | Y | 545379 | 545379 | NM_000451.3:c.304G>T | NP_000442.1:p.Glu102Ter | NC_000023.10:g.595379G>T | OMIM Allelic Variant:312865.0011 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.394C>G (p.Leu132Val) | 6473 | SHOX | Pathogenic | 137852554 | RCV000010551; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | Y | 545469 | 545469 | NM_000451.3:c.394C>G | NP_000442.1:p.Leu132Val | NC_000023.10:g.595469C>G | OMIM Allelic Variant:312865.0004 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.458G>T (p.Arg153Leu) | 6473 | SHOX | Pathogenic | 137852555 | RCV000010552; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | Y | 545533 | 545533 | NM_000451.3:c.458G>T | NP_000442.1:p.Arg153Leu | NC_000023.10:g.595533G>T | OMIM Allelic Variant:312865.0005 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.502C>T (p.Arg168Trp) | 6473 | SHOX | Pathogenic | 137852557 | RCV000010556; RCV000010555; | N | MedGen:C0265309,OMIM:127300,ORPHA:240; MedGen:C0432230,OMIM:249700,ORPHA:2632,SNOMED CT:38494008 | Y | 551571 | 551571 | NM_000451.3:c.502C>T | NP_000442.1:p.Arg168Trp | NC_000023.10:g.601571C>T | OMIM Allelic Variant:312865.0008 | C0432230 249700 Langer mesomelic dysplasia syndrome; C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.508G>C (p.Ala170Pro) | 6473 | SHOX | Pathogenic | 397514461 | RCV000022887; RCV000022888; | N | MedGen:C0265309,OMIM:127300,ORPHA:240; MedGen:C0432230,OMIM:249700,ORPHA:2632,SNOMED CT:38494008 | Y | 551577 | 551577 | NM_000451.3:c.508G>C | NP_000442.1:p.Ala170Pro | NC_000024.9:g.551577G>C | OMIM Allelic Variant:312865.0014 | C0432230 249700 Langer mesomelic dysplasia syndrome; C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.509C>A (p.Ala170Asp) | 6473 | SHOX | Pathogenic | 397514462 | RCV000022889; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | Y | 551578 | 551578 | NM_000451.3:c.509C>A | NP_000442.1:p.Ala170Asp | NC_000023.10:g.601578C>A | OMIM Allelic Variant:312865.0015 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.517C>T (p.Arg173Cys) | 6473 | SHOX | Pathogenic | 137852556 | RCV000010554; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | Y | 551586 | 551586 | NM_000451.3:c.517C>T | NP_000442.1:p.Arg173Cys | NC_000023.10:g.601586C>T | OMIM Allelic Variant:312865.0007 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.597C>G (p.Tyr199Ter) | 6473 | SHOX | Pathogenic | 137852553 | RCV000010548; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | Y | 551786 | 551786 | NM_000451.3:c.597C>G | NP_000442.1:p.Tyr199Ter | NC_000023.10:g.601786C>G | OMIM Allelic Variant:312865.0002 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.877T>C (p.Ter293Arg) | 6473 | SHOX | Pathogenic | 137852559 | RCV000010560; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | Y | 555369 | 555369 | NM_000451.3:c.877T>C | NP_000442.1:p.Ter293Arg | NC_000023.10:g.605369T>C | OMIM Allelic Variant:312865.0012 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.304G>T (p.Glu102Ter) | 6473 | SHOX | Pathogenic | 137852558 | RCV000010559; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | X | 595379 | 595379 | NM_000451.3:c.304G>T | NP_000442.1:p.Glu102Ter | NC_000023.10:g.595379G>T | OMIM Allelic Variant:312865.0011 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.394C>G (p.Leu132Val) | 6473 | SHOX | Pathogenic | 137852554 | RCV000010551; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | X | 595469 | 595469 | NM_000451.3:c.394C>G | NP_000442.1:p.Leu132Val | NC_000023.10:g.595469C>G | OMIM Allelic Variant:312865.0004 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.458G>T (p.Arg153Leu) | 6473 | SHOX | Pathogenic | 137852555 | RCV000010552; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | X | 595533 | 595533 | NM_000451.3:c.458G>T | NP_000442.1:p.Arg153Leu | NC_000023.10:g.595533G>T | OMIM Allelic Variant:312865.0005 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.502C>T (p.Arg168Trp) | 6473 | SHOX | Pathogenic | 137852557 | RCV000010556; RCV000010555; | N | MedGen:C0265309,OMIM:127300,ORPHA:240; MedGen:C0432230,OMIM:249700,ORPHA:2632,SNOMED CT:38494008 | X | 601571 | 601571 | NM_000451.3:c.502C>T | NP_000442.1:p.Arg168Trp | NC_000023.10:g.601571C>T | OMIM Allelic Variant:312865.0008 | C0432230 249700 Langer mesomelic dysplasia syndrome; C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.508G>C (p.Ala170Pro) | 6473 | SHOX | Pathogenic | 397514461 | RCV000022887; RCV000022888; | N | MedGen:C0265309,OMIM:127300,ORPHA:240; MedGen:C0432230,OMIM:249700,ORPHA:2632,SNOMED CT:38494008 | X | 601577 | 601577 | NM_000451.3:c.508G>C | NP_000442.1:p.Ala170Pro | NC_000024.9:g.551577G>C | OMIM Allelic Variant:312865.0014 | C0432230 249700 Langer mesomelic dysplasia syndrome; C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.509C>A (p.Ala170Asp) | 6473 | SHOX | Pathogenic | 397514462 | RCV000022889; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | X | 601578 | 601578 | NM_000451.3:c.509C>A | NP_000442.1:p.Ala170Asp | NC_000023.10:g.601578C>A | OMIM Allelic Variant:312865.0015 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.517C>T (p.Arg173Cys) | 6473 | SHOX | Pathogenic | 137852556 | RCV000010554; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | X | 601586 | 601586 | NM_000451.3:c.517C>T | NP_000442.1:p.Arg173Cys | NC_000023.10:g.601586C>T | OMIM Allelic Variant:312865.0007 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.597C>G (p.Tyr199Ter) | 6473 | SHOX | Pathogenic | 137852553 | RCV000010548; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | X | 601786 | 601786 | NM_000451.3:c.597C>G | NP_000442.1:p.Tyr199Ter | NC_000023.10:g.601786C>G | OMIM Allelic Variant:312865.0002 | C0265309 127300 Leri Weill dyschondrosteosis | | |
NM_000451.3(SHOX):c.877T>C (p.Ter293Arg) | 6473 | SHOX | Pathogenic | 137852559 | RCV000010560; | N | MedGen:C0265309,OMIM:127300,ORPHA:240 | X | 605369 | 605369 | NM_000451.3:c.877T>C | NP_000442.1:p.Ter293Arg | NC_000023.10:g.605369T>C | OMIM Allelic Variant:312865.0012 | C0265309 127300 Leri Weill dyschondrosteosis | | |