Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001011658.3(TRAPPC2):c.271_275delCAAGA (p.Gln91Argfs) | -1 | - | Pathogenic | 587776751 | RCV000128610; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13734172 | 13734176 | NM_001011658.3:c.271_275delCAAGA | NP_001011658.1:p.Gln91Argfs | | OMIM Allelic Variant:300202.0004,OMIM Allelic Variant:300202.0005 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001011658.3(TRAPPC2):c.248T>C (p.Phe83Ser) | -1 | - | Pathogenic | 104894948 | RCV000012269; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13734199 | 13734199 | NM_001011658.3:c.248T>C | NP_001011658.1:p.Phe83Ser | NC_000023.10:g.13734199A>G | OMIM Allelic Variant:300202.0007 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001011658.3(TRAPPC2):c.239-11_239-9delAAT | -1 | - | Pathogenic | 587777330 | RCV000114971; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13734217 | 13734219 | NM_001011658.3:c.239-11_239-9delAAT | | | OMIM Allelic Variant:300202.0012 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001011658.3(TRAPPC2):c.238+4T>C | -1 | - | Pathogenic | 587776753 | RCV000012272; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13734649 | 13734649 | NM_001011658.3:c.238+4T>C | | X:g.13734649A>G | OMIM Allelic Variant:300202.0010 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001011658.3(TRAPPC2):c.191_192delTG (p.Val64Glyfs) | -1 | - | Pathogenic | 587776749 | RCV000012264; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13734699 | 13734700 | NM_001011658.3:c.191_192delTG | NP_001011658.1:p.Val64Glyfs | | OMIM Allelic Variant:300202.0002 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001011658.3(TRAPPC2):c.157_158delAT (p.Met53Valfs) | -1 | - | Pathogenic | 587776750 | RCV000012265; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13734733 | 13734734 | NM_001011658.3:c.157_158delAT | NP_001011658.1:p.Met53Valfs | | OMIM Allelic Variant:300202.0003 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001011658.3(TRAPPC2):c.93+5G>A | -1 | - | Pathogenic | 587776752 | RCV000012268; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13737985 | 13737985 | NM_001011658.3:c.93+5G>A | | X:g.13737985C>T | OMIM Allelic Variant:300202.0006 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001011658.3(TRAPPC2):c.53_54delTT (p.Phe18Terfs) | -1 | - | Pathogenic | 587776748 | RCV000012263; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13738029 | 13738030 | NM_001011658.3:c.53_54delTT | NP_001011658.1:p.Phe18Terfs | | OMIM Allelic Variant:300202.0001 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001128835.2(TRAPPC2):c.12G>A (p.Trp4Ter) | -1 | - | Likely pathogenic | 746032983 | RCV000194298; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13752240 | 13752240 | NM_001128835.2:c.12G>A | NP_001122307.2:p.Trp4Ter | NC_000023.10:g.13752240C>T | - | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001011658.3(TRAPPC2):c.391C>T (p.Gln131Ter) | 6399 | TRAPPC2 | Pathogenic | 122460156 | RCV000012270; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13732558 | 13732558 | NM_001011658.3:c.391C>T | NP_001011658.1:p.Gln131Ter | NC_000023.10:g.13732558G>A | OMIM Allelic Variant:300202.0008 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001011658.3(TRAPPC2):c.387delA (p.Val130Phefs) | 6399 | TRAPPC2 | Pathogenic | 587776754 | RCV000012273; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13732562 | 13732562 | NM_001011658.3:c.387delA | NP_001011658.1:p.Val130Phefs | | OMIM Allelic Variant:300202.0011 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |
NM_001011658.3(TRAPPC2):c.329C>A (p.Ser110Ter) | 6399 | TRAPPC2 | Pathogenic | 104894949 | RCV000012271; | N | MedGen:C0220776,OMIM:313400,SNOMED CT:51952004 | X | 13732620 | 13732620 | NM_001011658.3:c.329C>A | NP_001011658.1:p.Ser110Ter | NC_000023.10:g.13732620G>T | OMIM Allelic Variant:300202.0009 | C0220776 313400 Spondyloepiphyseal dysplasia tarda | | |