Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_002381.4(MATN3):c.656C>A (p.Ala219Asp) | 4148 | MATN3 | Pathogenic | 28939677 | RCV000007979; | N | MedGen:C1846843,OMIM:607078,ORPHA:93311 | 2 | 20205639 | 20205639 | NM_002381.4:c.656C>A | NP_002372.1:p.Ala219Asp | NC_000002.11:g.20205639G>T | OMIM Allelic Variant:602109.0004 | C1846843 607078 Multiple epiphyseal dysplasia 5 | | |
NM_002381.4(MATN3):c.581T>A (p.Val194Asp) | 4148 | MATN3 | Pathogenic | 104893645 | RCV000007976; | N | MedGen:C1846843,OMIM:607078,ORPHA:93311 | 2 | 20205714 | 20205714 | NM_002381.4:c.581T>A | NP_002372.1:p.Val194Asp | NC_000002.11:g.20205714A>T | OMIM Allelic Variant:602109.0001 | C1846843 607078 Multiple epiphyseal dysplasia 5 | | |
NM_002381.4(MATN3):c.382G>C (p.Ala128Pro) | 4148 | MATN3 | Pathogenic | 104893641 | RCV000007982; | N | MedGen:C1846843,OMIM:607078,ORPHA:93311 | 2 | 20205913 | 20205913 | NM_002381.4:c.382G>C | NP_002372.1:p.Ala128Pro | NC_000002.11:g.20205913C>G | OMIM Allelic Variant:602109.0007 | C1846843 607078 Multiple epiphyseal dysplasia 5 | | |
NM_002381.4(MATN3):c.361C>T (p.Arg121Trp) | 4148 | MATN3 | Pathogenic | 104893637 | RCV000007977; | N | MedGen:C1846843,OMIM:607078,ORPHA:93311 | 2 | 20205934 | 20205934 | NM_002381.4:c.361C>T | NP_002372.1:p.Arg121Trp | NC_000002.11:g.20205934G>A | OMIM Allelic Variant:602109.0002 | C1846843 607078 Multiple epiphyseal dysplasia 5 | | |
NM_002381.4(MATN3):c.359C>T (p.Thr120Met) | 4148 | MATN3 | Pathogenic | 397515546 | RCV000055878; | N | MedGen:C1846843,OMIM:607078,ORPHA:93311 | 2 | 20205936 | 20205936 | NM_002381.4:c.359C>T | NP_002372.1:p.Thr120Met | NC_000002.11:g.20205936G>A | - | C1846843 607078 Multiple epiphyseal dysplasia 5 | | |
NM_002381.4(MATN3):c.209G>A (p.Arg70His) | 4148 | MATN3 | Pathogenic | 104893640 | RCV000007981; RCV000055877; | N | MedGen:C1846843,OMIM:607078,ORPHA:93311; MedGen:CN043640,OMIM:602109 | 2 | 20212184 | 20212184 | NM_002381.4:c.209G>A | NP_002372.1:p.Arg70His | NC_000002.11:g.20212184C>T | OMIM Allelic Variant:602109.0006 | C1846843 607078 Multiple epiphyseal dysplasia 5; CN043640 602109 Multiple Epiphyseal Dysplasia, Dominant | | |