Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001015880.1(PAPSS2):c.143C>G (p.Thr48Arg) | 9060 | PAPSS2 | Pathogenic | 121908951 | RCV000007075; | N | MedGen:C2748515,OMIM:612847 | 10 | 89469068 | 89469068 | NM_001015880.1:c.143C>G | NP_001015880.1:p.Thr48Arg | NC_000010.10:g.89469068C>G | OMIM Allelic Variant:603005.0002 | C2748515 612847 Spondyloepimetaphyseal dysplasia, pakistani type | | |
NM_004670.3(PAPSS2):c.337dupG (p.Ala113Glyfs) | 9060 | PAPSS2 | Pathogenic | 606231241 | RCV000032842; | N | MedGen:C2748515,OMIM:612847 | 10 | 89473023 | 89473023 | NM_004670.3:c.337dupG | NP_004661.2:p.Ala113Glyfs | NC_000010.10:g.89473023dupG | OMIM Allelic Variant:603005.0004 | C2748515 612847 Spondyloepimetaphyseal dysplasia, pakistani type | | |
NM_004670.3(PAPSS2):c.477_480dupCGTA (p.Lys161Argfs) | 9060 | PAPSS2 | Pathogenic | 606231243 | RCV000032845; | N | MedGen:C2748515,OMIM:612847 | 10 | 89473896 | 89473899 | NM_004670.3:c.477_480dupCGTA | NP_004661.2:p.Lys161Argfs | NC_000010.10:g.89473896_89473899dupCGTA | OMIM Allelic Variant:603005.0007 | C2748515 612847 Spondyloepimetaphyseal dysplasia, pakistani type | | |
NM_004670.3(PAPSS2):c.616_634del19 (p.Val206Serfs) | 9060 | PAPSS2 | Pathogenic | 606231242 | RCV000032843; | N | MedGen:C2748515,OMIM:612847 | 10 | 89474597 | 89474615 | NM_004670.3:c.616_634del19 | NP_004661.2:p.Val206Serfs | NC_000010.10:g.89474597_89474615del19 | OMIM Allelic Variant:603005.0005 | C2748515 612847 Spondyloepimetaphyseal dysplasia, pakistani type | | |
NM_001015880.1(PAPSS2):c.639+1G>T | 9060 | PAPSS2 | Pathogenic | 794727710 | RCV000178816; | N | MedGen:C2748515,OMIM:612847 | 10 | 89474621 | 89474621 | NM_001015880.1:c.639+1G>T | | NC_000010.10:g.89474621G>T | - | C2748515 612847 Spondyloepimetaphyseal dysplasia, pakistani type | | |
NM_001015880.1(PAPSS2):c.661delA (p.Ile221Serfs) | 9060 | PAPSS2 | Pathogenic | 786200934 | RCV000032846; | N | MedGen:C2748515,OMIM:612847 | 10 | 89474763 | 89474763 | NM_001015880.1:c.661delA | NP_001015880.1:p.Ile221Serfs | NC_000010.10:g.89474763delA | OMIM Allelic Variant:603005.0008 | C2748515 612847 Spondyloepimetaphyseal dysplasia, pakistani type | | |
NM_001015880.1(PAPSS2):c.1000C>T (p.Arg334Ter) | 9060 | PAPSS2 | Pathogenic | 121908952 | RCV000007076; | N | MedGen:C2748515,OMIM:612847 | 10 | 89487160 | 89487160 | NM_001015880.1:c.1000C>T | NP_001015880.1:p.Arg334Ter | NC_000010.10:g.89487160C>T | OMIM Allelic Variant:603005.0003 | C2748515 612847 Spondyloepimetaphyseal dysplasia, pakistani type | | |
NM_001015880.1(PAPSS2):c.1309_1310delAG (p.Arg437Glyfs) | 9060 | PAPSS2 | Pathogenic | 786200933 | RCV000032844; | N | MedGen:C2748515,OMIM:612847 | 10 | 89503216 | 89503217 | NM_001015880.1:c.1309_1310delAG | NP_001015880.1:p.Arg437Glyfs | NC_000010.10:g.89503216_89503217delAG | OMIM Allelic Variant:603005.0006 | C2748515 612847 Spondyloepimetaphyseal dysplasia, pakistani type | | |
NM_001015880.1(PAPSS2):c.1439C>A (p.Ser480Ter) | 9060 | PAPSS2 | Pathogenic | 121908950 | RCV000007074; | N | MedGen:C2748515,OMIM:612847 | 10 | 89503346 | 89503346 | NM_001015880.1:c.1439C>A | NP_001015880.1:p.Ser480Ter | NC_000010.10:g.89503346C>A | OMIM Allelic Variant:603005.0001 | C2748515 612847 Spondyloepimetaphyseal dysplasia, pakistani type | | |
NM_001015880.1(PAPSS2):c.1662_1666delATTCC (p.Phe555Serfs) | 9060 | PAPSS2 | Likely pathogenic | 797045099 | RCV000190612; | N | MedGen:C2748515,OMIM:612847 | 10 | 89504929 | 89504933 | NM_001015880.1:c.1662_1666delATTCC | NP_001015880.1:p.Phe555Serfs | | - | C2748515 612847 Spondyloepimetaphyseal dysplasia, pakistani type | | |