Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000493.3(COL10A1):c.2011T>C (p.Ser671Pro) | -1 | - | Pathogenic | 111033552 | RCV000019029; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441268 | 116441268 | NM_000493.3:c.2011T>C | NP_000484.2:p.Ser671Pro | NC_000006.11:g.116441268A>G | OMIM Allelic Variant:120110.0014 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1953G>A (p.Trp651Ter) | -1 | - | Pathogenic | 111033547 | RCV000019025; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441326 | 116441326 | NM_000493.3:c.1953G>A | NP_000484.2:p.Trp651Ter | NC_000006.11:g.116441326C>T | OMIM Allelic Variant:120110.0010 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1951T>C (p.Trp651Arg) | -1 | - | Pathogenic | 111033549 | RCV000019026; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441328 | 116441328 | NM_000493.3:c.1951T>C | NP_000484.2:p.Trp651Arg | NC_000006.11:g.116441328A>G | OMIM Allelic Variant:120110.0011 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1896C>A (p.Tyr632Ter) | -1 | - | Pathogenic | 111033548 | RCV000019030; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441383 | 116441383 | NM_000493.3:c.1896C>A | NP_000484.2:p.Tyr632Ter | NC_000006.11:g.116441383G>T | OMIM Allelic Variant:120110.0015 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1884C>G (p.Tyr628Ter) | -1 | - | Pathogenic | 111033543 | RCV000019024; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441395 | 116441395 | NM_000493.3:c.1884C>G | NP_000484.2:p.Tyr628Ter | NC_000006.11:g.116441395G>C | OMIM Allelic Variant:120110.0009 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1841T>C (p.Leu614Pro) | -1 | - | Pathogenic | 111033545 | RCV000019018; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441438 | 116441438 | NM_000493.3:c.1841T>C | NP_000484.2:p.Leu614Pro | NC_000006.11:g.116441438A>G | OMIM Allelic Variant:120110.0003 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1832G>A (p.Trp611Ter) | -1 | - | Pathogenic | 111033556 | RCV000019034; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441447 | 116441447 | NM_000493.3:c.1832G>A | NP_000484.2:p.Trp611Ter | NC_000006.11:g.116441447C>T | OMIM Allelic Variant:120110.0019 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1798T>C (p.Ser600Pro) | -1 | - | Pathogenic | 111033555 | RCV000019033; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441481 | 116441481 | NM_000493.3:c.1798T>C | NP_000484.2:p.Ser600Pro | NC_000006.11:g.116441481A>G | OMIM Allelic Variant:120110.0018 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1792T>G (p.Tyr598Asp) | -1 | - | Pathogenic | 111033544 | RCV000019017; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441487 | 116441487 | NM_000493.3:c.1792T>G | NP_000484.2:p.Tyr598Asp | NC_000006.11:g.116441487A>C | OMIM Allelic Variant:120110.0002 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1790A>G (p.Tyr597Cys) | -1 | - | Pathogenic | 111033554 | RCV000019032; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441489 | 116441489 | NM_000493.3:c.1790A>G | NP_000484.2:p.Tyr597Cys | NC_000006.11:g.116441489T>C | OMIM Allelic Variant:120110.0017 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1784G>A (p.Gly595Glu) | -1 | - | Pathogenic | 111033553 | RCV000019031; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441495 | 116441495 | NM_000493.3:c.1784G>A | NP_000484.2:p.Gly595Glu | NC_000006.11:g.116441495C>T | OMIM Allelic Variant:120110.0016 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.1771T>C (p.Cys591Arg) | -1 | - | Pathogenic | 111033546 | RCV000019019; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116441508 | 116441508 | NM_000493.3:c.1771T>C | NP_000484.2:p.Cys591Arg | NC_000006.11:g.116441508A>G | OMIM Allelic Variant:120110.0004 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.53G>A (p.Gly18Glu) | -1 | - | Pathogenic | 111033551 | RCV000019028; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116446603 | 116446603 | NM_000493.3:c.53G>A | NP_000484.2:p.Gly18Glu | NC_000006.11:g.116446603C>T | OMIM Allelic Variant:120110.0013 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |
NM_000493.3(COL10A1):c.52G>A (p.Gly18Arg) | -1 | - | Pathogenic | 111033550 | RCV000019027; | N | MedGen:C0265289,OMIM:156500,ORPHA:174,SNOMED CT:29248006 | 6 | 116446604 | 116446604 | NM_000493.3:c.52G>A | NP_000484.2:p.Gly18Arg | NC_000006.11:g.116446604C>T | OMIM Allelic Variant:120110.0012 | C0265289 156500 Metaphyseal chondrodysplasia, Schmid type | | |