| COMP, 3-BP DEL, 1139GAC |
deletion |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000029149] |
Chr19:19p13.1 |
pathogenic |
| NM_000095.3(COMP):c.1375_1377del (p.Ser459del) |
deletion |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009763] |
Chr19:18786077..18786079 [GRCh38]
Chr19:18896887..18896889 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| COMP, 3-BP DEL, 1430GAC |
deletion |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009764] |
Chr19:19p13.1 |
pathogenic |
| NM_000095.3(COMP):c.1405GAC[7] (p.Asp472_Asp473dup) |
microsatellite |
COMP-related disorder [RCV004730840]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009770] |
Chr19:18786034..18786035 [GRCh38]
Chr19:18896844..18896845 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.917_976-68del |
deletion |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009774] |
Chr19:18787718..18788270 [GRCh38]
Chr19:18898527..18899079 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.2223dup (p.Asn742fs) |
duplication |
Multiple epiphyseal dysplasia type 1 [RCV000009775] |
Chr19:18783057..18783058 [GRCh38]
Chr19:18893867..18893868 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1195G>A (p.Asp399Asn) |
single nucleotide variant |
not provided [RCV000521517] |
Chr19:18786591 [GRCh38]
Chr19:18897401 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1255-26G>A |
single nucleotide variant |
not provided [RCV000519681] |
Chr19:18786317 [GRCh38]
Chr19:18897127 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1414G>T (p.Asp472Tyr) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009761] |
Chr19:18786040 [GRCh38]
Chr19:18896850 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1403G>A (p.Cys468Tyr) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009762]|not provided [RCV002512949]|not specified [RCV002247283] |
Chr19:18786051 [GRCh38]
Chr19:18896861 [GRCh37]
Chr19:19p13.11 |
pathogenic|uncertain significance |
| NM_000095.3(COMP):c.1024G>T (p.Asp342Tyr) |
single nucleotide variant |
Epiphyseal dysplasia, multiple, 1, severe [RCV000009765] |
Chr19:18787602 [GRCh38]
Chr19:18898411 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.982T>C (p.Cys328Arg) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009766] |
Chr19:18787644 [GRCh38]
Chr19:18898453 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) |
single nucleotide variant |
Multiple epiphyseal dysplasia [RCV002054430]|Multiple epiphyseal dysplasia type 1 [RCV000009767]|not provided [RCV001851774] |
Chr19:18785772 [GRCh38]
Chr19:18896582 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic|not provided |
| NM_000095.3(COMP):c.1358A>G (p.Asn453Ser) |
single nucleotide variant |
Epiphyseal dysplasia, multiple, 1, severe [RCV000009768] |
Chr19:18786096 [GRCh38]
Chr19:18896906 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1418A>G (p.Asp473Gly) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009769] |
Chr19:18786036 [GRCh38]
Chr19:18896846 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) |
microsatellite |
Multiple epiphyseal dysplasia [RCV002054431]|Multiple epiphyseal dysplasia type 1 [RCV000009771]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033881]|not provided [RCV001090556] |
Chr19:18786034..18786035 [GRCh38]
Chr19:18896844..18896845 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic|not provided |
| NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV003989283]|Pseudoachondroplasia, severe [RCV000009772]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033890]|not provided [RCV002223755] |
Chr19:18783125 [GRCh38]
Chr19:18893935 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic|not provided |
| NM_000095.3(COMP):c.1042T>C (p.Cys348Arg) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009773]|not provided [RCV003555993] |
Chr19:18787584 [GRCh38]
Chr19:18898393 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) |
single nucleotide variant |
Carpal tunnel syndrome 2 [RCV001289465]|Multiple epiphyseal dysplasia [RCV002054432]|Multiple epiphyseal dysplasia type 1 [RCV000009776]|not provided [RCV001268837] |
Chr19:18783129 [GRCh38]
Chr19:18893939 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic|not provided |
| NM_000095.3(COMP):c.1156A>G (p.Asn386Asp) |
single nucleotide variant |
Connective tissue disorder [RCV002277115]|Multiple epiphyseal dysplasia type 1 [RCV000055747]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033879]|not provided [RCV001523353]|not specified [RCV000242913] |
Chr19:18786630 [GRCh38]
Chr19:18897440 [GRCh37]
Chr19:19p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del) |
microsatellite |
Multiple epiphyseal dysplasia type 1 [RCV001332185]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033880]|not provided [RCV000486037] |
Chr19:18786035..18786037 [GRCh38]
Chr19:18896845..18896847 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.1586C>T (p.Thr529Ile) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033882]|not provided [RCV000489545] |
Chr19:18785755 [GRCh38]
Chr19:18896565 [GRCh37]
Chr19:19p13.11 |
pathogenic|uncertain significance|not provided |
| NM_000095.3(COMP):c.1747G>A (p.Glu583Lys) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033884] |
Chr19:18785063 [GRCh38]
Chr19:18895873 [GRCh37]
Chr19:19p13.11 |
pathogenic|not provided |
| NM_000095.3(COMP):c.1754C>A (p.Thr585Lys) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033885] |
Chr19:18785056 [GRCh38]
Chr19:18895866 [GRCh37]
Chr19:19p13.11 |
pathogenic|not provided |
| NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) |
single nucleotide variant |
Multiple epiphyseal dysplasia [RCV002054552]|Multiple epiphyseal dysplasia type 1 [RCV002496507]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033886] |
Chr19:18785056 [GRCh38]
Chr19:18895866 [GRCh37]
Chr19:19p13.11 |
pathogenic|not provided |
| NM_000095.3(COMP):c.1754C>T (p.Thr585Met) |
single nucleotide variant |
COMP-related disorder [RCV004754281]|Multiple epiphyseal dysplasia [RCV002054553]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033887]|not provided [RCV001388112] |
Chr19:18785056 [GRCh38]
Chr19:18895866 [GRCh37]
Chr19:19p13.11 |
pathogenic|not provided |
| NM_000095.3(COMP):c.1760A>G (p.His587Arg) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033888]|not provided [RCV000254993] |
Chr19:18785050 [GRCh38]
Chr19:18895860 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic|not provided |
| NM_000095.3(COMP):c.2155G>A (p.Gly719Ser) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033889]|not provided [RCV001390635] |
Chr19:18783126 [GRCh38]
Chr19:18893936 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic|not provided |
| GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 |
copy number gain |
See cases [RCV000050635] |
Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11 |
pathogenic |
| GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 |
copy number gain |
See cases [RCV000052912] |
Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11 |
pathogenic |
| NM_000095.3(COMP):c.1156_1158del (p.Asn386del) |
deletion |
Multiple epiphyseal dysplasia [RCV002054893] |
Chr19:18786628..18786630 [GRCh38]
Chr19:18897438..18897440 [GRCh37]
Chr19:19p13.11 |
pathogenic|not provided |
| NM_000095.3(COMP):c.1665C>A (p.Asn555Lys) |
single nucleotide variant |
Multiple epiphyseal dysplasia [RCV002054894] |
Chr19:18785676 [GRCh38]
Chr19:18896486 [GRCh37]
Chr19:19p13.11 |
pathogenic|not provided |
| NM_000095.3(COMP):c.1813G>A (p.Asp605Asn) |
single nucleotide variant |
Multiple epiphyseal dysplasia [RCV002054895] |
Chr19:18784997 [GRCh38]
Chr19:18895807 [GRCh37]
Chr19:19p13.11 |
pathogenic|not provided |
| NM_000095.3(COMP):c.2042C>G (p.Ser681Cys) |
single nucleotide variant |
Multiple epiphyseal dysplasia [RCV002054896] |
Chr19:18784236 [GRCh38]
Chr19:18895046 [GRCh37]
Chr19:19p13.11 |
pathogenic|not provided |
| NM_000095.3(COMP):c.2153G>C (p.Arg718Pro) |
single nucleotide variant |
Multiple epiphyseal dysplasia [RCV002054897]|not provided [RCV002513728] |
Chr19:18783128 [GRCh38]
Chr19:18893938 [GRCh37]
Chr19:19p13.11 |
pathogenic|not provided |
| NM_000095.3(COMP):c.2262G>A (p.Leu754=) |
single nucleotide variant |
not provided [RCV000911517]|not specified [RCV000175389] |
Chr19:18782927 [GRCh38]
Chr19:18893737 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.511G>A (p.Ala171Thr) |
single nucleotide variant |
Connective tissue disorder [RCV002277410]|Multiple epiphyseal dysplasia type 1 [RCV000354091]|Multiple epiphyseal dysplasia type 1 [RCV002485172]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000259246]|not provided [RCV000881662]|not specified [RCV000178711] |
Chr19:18789177 [GRCh38]
Chr19:18899986 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.1568A>G (p.Asn523Ser) |
single nucleotide variant |
not provided [RCV001303493] |
Chr19:18785773 [GRCh38]
Chr19:18896583 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 |
copy number gain |
See cases [RCV000133888] |
Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31 |
pathogenic |
| GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 |
copy number gain |
See cases [RCV000136696] |
Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12 |
pathogenic|likely pathogenic |
| NM_000095.2:c.1679A>G |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033883] |
Chr19:19p13.1 |
pathogenic |
| NM_000095.3(COMP):c.1279_1291del (p.Gly427fs) |
deletion |
not provided [RCV000224737] |
Chr19:18786255..18786267 [GRCh38]
Chr19:18897065..18897077 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1737C>T (p.Gly579=) |
single nucleotide variant |
not provided [RCV000757128] |
Chr19:18785073 [GRCh38]
Chr19:18895883 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1675G>A (p.Glu559Lys) |
single nucleotide variant |
not provided [RCV000755982] |
Chr19:18785540 [GRCh38]
Chr19:18896350 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1829A>G (p.Tyr610Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV000622479]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV004556063] |
Chr19:18784981 [GRCh38]
Chr19:18895791 [GRCh37]
Chr19:19p13.11 |
likely pathogenic|uncertain significance |
| NM_000095.3(COMP):c.1502G>A (p.Gly501Asp) |
single nucleotide variant |
not provided [RCV000520014] |
Chr19:18785839 [GRCh38]
Chr19:18896649 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.2228-40T>C |
single nucleotide variant |
not provided [RCV001682953]|not specified [RCV000243520] |
Chr19:18783001 [GRCh38]
Chr19:18893811 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.*1G>C |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000266934]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000322017]|not provided [RCV001610552]|not specified [RCV000250953] |
Chr19:18782914 [GRCh38]
Chr19:18893724 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.762+12C>A |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000397614]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000306627]|not provided [RCV002055024]|not specified [RCV000243837] |
Chr19:18788580 [GRCh38]
Chr19:18899389 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.1755G>T (p.Thr585=) |
single nucleotide variant |
not specified [RCV000241607] |
Chr19:18785055 [GRCh38]
Chr19:18895865 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1915-45C>T |
single nucleotide variant |
not provided [RCV001640462]|not specified [RCV000246572] |
Chr19:18784408 [GRCh38]
Chr19:18895218 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.218-14C>T |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000395471]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000283361]|not provided [RCV001589229]|not specified [RCV000251511] |
Chr19:18790128 [GRCh38]
Chr19:18900937 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.2267A>G (p.Gln756Arg) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000376728]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000282272]|not provided [RCV001521405]|not specified [RCV000246867] |
Chr19:18782922 [GRCh38]
Chr19:18893732 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.165+41G>C |
single nucleotide variant |
not provided [RCV004717101]|not specified [RCV000247898] |
Chr19:18790809 [GRCh38]
Chr19:18901618 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1755G>A (p.Thr585=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000308597]|Multiple epiphyseal dysplasia type 1 [RCV002494695]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000363252]|not provided [RCV001517626]|not specified [RCV000252866] |
Chr19:18785055 [GRCh38]
Chr19:18895865 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.588G>A (p.Val196=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000302932]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000357759] |
Chr19:18788854 [GRCh38]
Chr19:18899663 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.87C>T (p.Asp29=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000272336]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000366967]|not provided [RCV002523056] |
Chr19:18790928 [GRCh38]
Chr19:18901737 [GRCh37]
Chr19:19p13.11 |
benign|uncertain significance |
| NM_000095.3(COMP):c.410T>C (p.Phe137Ser) |
single nucleotide variant |
Connective tissue disorder [RCV002278507]|Multiple epiphyseal dysplasia type 1 [RCV000330560]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000275499]|not provided [RCV001435909] |
Chr19:18789278 [GRCh38]
Chr19:18900087 [GRCh37]
Chr19:19p13.11 |
benign|likely benign|uncertain significance |
| NM_000095.3(COMP):c.868-4C>T |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000371849]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000296158]|not provided [RCV000912964] |
Chr19:18788323 [GRCh38]
Chr19:18899132 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.1993C>A (p.Arg665=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000278977]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000352592] |
Chr19:18784285 [GRCh38]
Chr19:18895095 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.195G>A (p.Thr65=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000299030]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000353836]|not provided [RCV001515595] |
Chr19:18790584 [GRCh38]
Chr19:18901393 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.-9G>T |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000268665]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000323795] |
Chr19:18791278 [GRCh38]
Chr19:18902087 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.*92G>A |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000365546]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000270982]|not provided [RCV001558753] |
Chr19:18782823 [GRCh38]
Chr19:18893633 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002521198]|Multiple epiphyseal dysplasia type 1 [RCV000394504]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000312363]|not provided [RCV001850749] |
Chr19:18784299 [GRCh38]
Chr19:18895109 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.*15A>G |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000325933]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000380566]|not provided [RCV004717233] |
Chr19:18782900 [GRCh38]
Chr19:18893710 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.1222G>C (p.Asp408His) |
single nucleotide variant |
not provided [RCV000344582] |
Chr19:18786564 [GRCh38]
Chr19:18897374 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.954_955delinsTT (p.Asp319Tyr) |
indel |
not provided [RCV000346244] |
Chr19:18788232..18788233 [GRCh38]
Chr19:18899041..18899042 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.279C>A (p.Pro93=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000381801]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000327159]|not provided [RCV000883104] |
Chr19:18790053 [GRCh38]
Chr19:18900862 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.1590C>A (p.Asp530Glu) |
single nucleotide variant |
COMP-related disorder [RCV003897750]|Multiple epiphyseal dysplasia type 1 [RCV000375163]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000320583]|not provided [RCV002521199] |
Chr19:18785751 [GRCh38]
Chr19:18896561 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.*111A>G |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000329311]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000274258] |
Chr19:18782804 [GRCh38]
Chr19:18893614 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1110G>A (p.Ala370=) |
single nucleotide variant |
not provided [RCV000387736] |
Chr19:18787516 [GRCh38]
Chr19:18898325 [GRCh37]
Chr19:19p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000095.3(COMP):c.218-7C>G |
single nucleotide variant |
COMP-related disorder [RCV003957684]|Multiple epiphyseal dysplasia type 1 [RCV000287404]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000342349]|not provided [RCV001521071]|not specified [RCV000508522] |
Chr19:18790121 [GRCh38]
Chr19:18900930 [GRCh37]
Chr19:19p13.11 |
benign|likely benign|uncertain significance |
| NM_000095.3(COMP):c.875G>T (p.Cys292Phe) |
single nucleotide variant |
not provided [RCV000346176] |
Chr19:18788312 [GRCh38]
Chr19:18899121 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.468G>T (p.Pro156=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000369222]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000333202]|not provided [RCV000960985] |
Chr19:18789220 [GRCh38]
Chr19:18900029 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.2227+8G>A |
single nucleotide variant |
Connective tissue disorder [RCV002278506]|Multiple epiphyseal dysplasia type 1 [RCV000373360]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000337323]|not provided [RCV000513897] |
Chr19:18783046 [GRCh38]
Chr19:18893856 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.366C>T (p.Gly122=) |
single nucleotide variant |
not provided [RCV000362277] |
Chr19:18789966 [GRCh38]
Chr19:18900775 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.218-14C>G |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000395468]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000338447] |
Chr19:18790128 [GRCh38]
Chr19:18900937 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.566A>G (p.His189Arg) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000263010]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000299405] |
Chr19:18788876 [GRCh38]
Chr19:18899685 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1668+13T>A |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000360258]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000265518]|not provided [RCV001590966] |
Chr19:18785660 [GRCh38]
Chr19:18896470 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.867+11G>A |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000350020]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000385885]|not provided [RCV002521200] |
Chr19:18788399 [GRCh38]
Chr19:18899208 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.1668+13T>G |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000268733]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000305183]|not provided [RCV001812863] |
Chr19:18785660 [GRCh38]
Chr19:18896470 [GRCh37]
Chr19:19p13.11 |
benign|uncertain significance |
| NM_000095.3(COMP):c.525G>C (p.Lys175Asn) |
single nucleotide variant |
not provided [RCV000489487] |
Chr19:18789163 [GRCh38]
Chr19:18899972 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) |
single nucleotide variant |
Multiple epiphyseal dysplasia [RCV002069395]|Multiple epiphyseal dysplasia type 1 [RCV001810013]|Multiple epiphyseal dysplasia type 1 [RCV002504388]|not provided [RCV001269651] |
Chr19:18786633 [GRCh38]
Chr19:18897443 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic|not provided |
| NM_000095.3(COMP):c.763-6C>G |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000291667]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000346603]|not provided [RCV003765904] |
Chr19:18788520 [GRCh38]
Chr19:18899329 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.165+9C>A |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000400676]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000314180] |
Chr19:18790841 [GRCh38]
Chr19:18901650 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.2(COMP):c.*155G>C |
single nucleotide variant |
Multiple Epiphyseal Dysplasia, Dominant [RCV000319369]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000376384] |
Chr19:18782760 [GRCh38]
Chr19:18893570 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1836C>G (p.Val612=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000401733]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000348383] |
Chr19:18784974 [GRCh38]
Chr19:18895784 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.69G>A (p.Gln23=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000327520]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000363474] |
Chr19:18791201 [GRCh38]
Chr19:18902010 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.620G>A (p.Gly207Asp) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000342765]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000399990] |
Chr19:18788734 [GRCh38]
Chr19:18899543 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.377C>T (p.Thr126Ile) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000385033]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000290716] |
Chr19:18789955 [GRCh38]
Chr19:18900764 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.218-15C>A |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001127817]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127818]|not provided [RCV000592194] |
Chr19:18790129 [GRCh38]
Chr19:18900938 [GRCh37]
Chr19:19p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000095.3(COMP):c.956A>T (p.Asp319Val) |
single nucleotide variant |
not specified [RCV000414567] |
Chr19:18788231 [GRCh38]
Chr19:18899040 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 |
copy number gain |
not provided [RCV000752593] |
Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11 |
pathogenic |
| NM_000095.3(COMP):c.869A>G (p.Asp290Gly) |
single nucleotide variant |
not provided [RCV000730702] |
Chr19:18788318 [GRCh38]
Chr19:18899127 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.763-8T>C |
single nucleotide variant |
not provided [RCV000734377] |
Chr19:18788522 [GRCh38]
Chr19:18899331 [GRCh37]
Chr19:19p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000095.3(COMP):c.1488C>A (p.Asp496Glu) |
single nucleotide variant |
COMP-related disorder [RCV003955473]|not provided [RCV000974651]|not specified [RCV000733956] |
Chr19:18785966 [GRCh38]
Chr19:18896776 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.1981G>A (p.Glu661Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004027059]|not provided [RCV000733347] |
Chr19:18784297 [GRCh38]
Chr19:18895107 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.867+15A>G |
single nucleotide variant |
not specified [RCV000438537] |
Chr19:18788395 [GRCh38]
Chr19:18899204 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1222G>A (p.Asp408Asn) |
single nucleotide variant |
not provided [RCV000423351] |
Chr19:18786564 [GRCh38]
Chr19:18897374 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1112G>A (p.Cys371Tyr) |
single nucleotide variant |
not provided [RCV000433591] |
Chr19:18787514 [GRCh38]
Chr19:18898323 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| GRCh37/hg19 19p13.11(chr19:18136482-19087534)x3 |
copy number gain |
See cases [RCV000449006] |
Chr19:18136482..19087534 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1533C>G (p.Asp511Glu) |
single nucleotide variant |
not provided [RCV000483120] |
Chr19:18785808 [GRCh38]
Chr19:18896618 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.1021_1026del (p.Glu341_Asp342del) |
deletion |
not provided [RCV000486008] |
Chr19:18787600..18787605 [GRCh38]
Chr19:18898409..18898414 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.1569C>A (p.Asn523Lys) |
single nucleotide variant |
not provided [RCV000498353] |
Chr19:18785772 [GRCh38]
Chr19:18896582 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000095.3(COMP):c.1322A>G (p.His441Arg) |
single nucleotide variant |
not provided [RCV000493700] |
Chr19:18786132 [GRCh38]
Chr19:18896942 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.811G>C (p.Asp271His) |
single nucleotide variant |
not provided [RCV000493984] |
Chr19:18788466 [GRCh38]
Chr19:18899275 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000505823] |
Chr19:18787500 [GRCh38]
Chr19:18898309 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.975+10C>T |
single nucleotide variant |
not specified [RCV000506702] |
Chr19:18788202 [GRCh38]
Chr19:18899011 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1148A>G (p.Gln383Arg) |
single nucleotide variant |
not provided [RCV001857263]|not specified [RCV000507241] |
Chr19:18786638 [GRCh38]
Chr19:18897448 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1247C>T (p.Pro416Leu) |
single nucleotide variant |
not provided [RCV000507629] |
Chr19:18786539 [GRCh38]
Chr19:18897349 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.762+1G>A |
single nucleotide variant |
not provided [RCV000493304] |
Chr19:18788591 [GRCh38]
Chr19:18899400 [GRCh37]
Chr19:19p13.11 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000095.3(COMP):c.1489+2T>A |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000494706] |
Chr19:18785963 [GRCh38]
Chr19:18896773 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1334G>A (p.Arg445Gln) |
single nucleotide variant |
not provided [RCV000519951] |
Chr19:18786120 [GRCh38]
Chr19:18896930 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
| NM_000095.3(COMP):c.2032G>A (p.Asp678Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003251552] |
Chr19:18784246 [GRCh38]
Chr19:18895056 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| NM_000095.3(COMP):c.1518C>A (p.Asp506Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003292252] |
Chr19:18785823 [GRCh38]
Chr19:18896633 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2226T>C (p.Asn742=) |
single nucleotide variant |
not provided [RCV000597168] |
Chr19:18783055 [GRCh38]
Chr19:18893865 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.951C>A (p.Asp317Glu) |
single nucleotide variant |
not provided [RCV001572833] |
Chr19:18788236 [GRCh38]
Chr19:18899045 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| NM_000095.3(COMP):c.1315G>A (p.Asp439Asn) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000853301] |
Chr19:18786139 [GRCh38]
Chr19:18896949 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1265A>C (p.Asp422Ala) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000761229] |
Chr19:18786281 [GRCh38]
Chr19:18897091 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.950A>T (p.Asp317Val) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000990190] |
Chr19:18788237 [GRCh38]
Chr19:18899046 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.2150T>G (p.Met717Arg) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000786925] |
Chr19:18783131 [GRCh38]
Chr19:18893941 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.976-216G>A |
single nucleotide variant |
not provided [RCV001708551] |
Chr19:18787866 [GRCh38]
Chr19:18898675 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.976-244_976-223del |
deletion |
not provided [RCV001575383] |
Chr19:18787873..18787894 [GRCh38]
Chr19:18898682..18898703 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1872G>A (p.Ala624=) |
single nucleotide variant |
not provided [RCV000914614] |
Chr19:18784938 [GRCh38]
Chr19:18895748 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.399C>A (p.Ala133=) |
single nucleotide variant |
not provided [RCV000921770] |
Chr19:18789289 [GRCh38]
Chr19:18900098 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1518C>T (p.Asp506=) |
single nucleotide variant |
not provided [RCV000983343] |
Chr19:18785823 [GRCh38]
Chr19:18896633 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del) |
microsatellite |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000995525]|not provided [RCV001597240] |
Chr19:18786081..18786083 [GRCh38]
Chr19:18896891..18896893 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000995526] |
Chr19:18786633 [GRCh38]
Chr19:18897443 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1642G>C (p.Asp548His) |
single nucleotide variant |
not provided [RCV001046138] |
Chr19:18785699 [GRCh38]
Chr19:18896509 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.1740G>A (p.Val580=) |
single nucleotide variant |
not provided [RCV000888365] |
Chr19:18785070 [GRCh38]
Chr19:18895880 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1506C>T (p.Asp502=) |
single nucleotide variant |
not provided [RCV000904109] |
Chr19:18785835 [GRCh38]
Chr19:18896645 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2152C>A (p.Arg718=) |
single nucleotide variant |
Connective tissue disorder [RCV002279653]|Multiple epiphyseal dysplasia type 1 [RCV001127558]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127557]|not provided [RCV000948474] |
Chr19:18783129 [GRCh38]
Chr19:18893939 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.79+7C>G |
single nucleotide variant |
not provided [RCV000909214] |
Chr19:18791184 [GRCh38]
Chr19:18901993 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.441G>C (p.Pro147=) |
single nucleotide variant |
not provided [RCV000895948] |
Chr19:18789247 [GRCh38]
Chr19:18900056 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.390+6C>T |
single nucleotide variant |
not provided [RCV000996826] |
Chr19:18789936 [GRCh38]
Chr19:18900745 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1552G>C (p.Asp518His) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000990188] |
Chr19:18785789 [GRCh38]
Chr19:18896599 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.818A>T (p.Asp273Val) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000990191] |
Chr19:18788459 [GRCh38]
Chr19:18899268 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.360C>T (p.Gly120=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001123638]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123639]|not provided [RCV000897029] |
Chr19:18789972 [GRCh38]
Chr19:18900781 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.984C>G (p.Cys328Trp) |
single nucleotide variant |
not provided [RCV000996825] |
Chr19:18787642 [GRCh38]
Chr19:18898451 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000990189] |
Chr19:18786139 [GRCh38]
Chr19:18896949 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.361_364dup (p.Gly122fs) |
duplication |
COMP-related disorder [RCV004545810] |
Chr19:18789967..18789968 [GRCh38]
Chr19:18900776..18900777 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1593C>G (p.Phe531Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003290959] |
Chr19:18785748 [GRCh38]
Chr19:18896558 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.700C>T (p.Pro234Ser) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001124624]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124623]|not provided [RCV001300856]|not specified [RCV002249735] |
Chr19:18788654 [GRCh38]
Chr19:18899463 [GRCh37]
Chr19:19p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000095.3(COMP):c.643G>C (p.Gly215Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004032257]|Multiple epiphyseal dysplasia type 1 [RCV001124626]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124625]|not provided [RCV001882411] |
Chr19:18788711 [GRCh38]
Chr19:18899520 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2213G>A (p.Arg738His) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001127555]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127556]|not provided [RCV001505858] |
Chr19:18783068 [GRCh38]
Chr19:18893878 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.-15C>T |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001124811]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124812] |
Chr19:18791284 [GRCh38]
Chr19:18902093 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.381C>T (p.Asp127=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001127718]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127717] |
Chr19:18789951 [GRCh38]
Chr19:18900760 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1621C>G (p.Pro541Ala) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001125544]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125543] |
Chr19:18785720 [GRCh38]
Chr19:18896530 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1200C>T (p.Gly400=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001127640]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125547]|not provided [RCV001856647] |
Chr19:18786586 [GRCh38]
Chr19:18897396 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NC_000019.10:g.18782619C>G |
single nucleotide variant |
not provided [RCV001571740] |
Chr19:18782619 [GRCh38]
Chr19:18893429 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.976-224_976-223del |
deletion |
not provided [RCV001547767] |
Chr19:18787873..18787874 [GRCh38]
Chr19:18898682..18898683 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.390+4C>G |
single nucleotide variant |
not provided [RCV003106769] |
Chr19:18789938 [GRCh38]
Chr19:18900747 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1393G>A (p.Gly465Ser) |
single nucleotide variant |
not provided [RCV001597461] |
Chr19:18786061 [GRCh38]
Chr19:18896871 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.604-2A>C |
single nucleotide variant |
not provided [RCV001562488] |
Chr19:18788752 [GRCh38]
Chr19:18899561 [GRCh37]
Chr19:19p13.11 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000095.3(COMP):c.976-236_976-223del |
deletion |
not provided [RCV001562645] |
Chr19:18787873..18787886 [GRCh38]
Chr19:18898682..18898695 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2087+98C>T |
single nucleotide variant |
not provided [RCV001673436] |
Chr19:18784093 [GRCh38]
Chr19:18894903 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.994C>A (p.Arg332=) |
single nucleotide variant |
not provided [RCV000909736] |
Chr19:18787632 [GRCh38]
Chr19:18898441 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1248G>A (p.Pro416=) |
single nucleotide variant |
not provided [RCV000907739] |
Chr19:18786538 [GRCh38]
Chr19:18897348 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1490-5C>T |
single nucleotide variant |
not provided [RCV000940401] |
Chr19:18785856 [GRCh38]
Chr19:18896666 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.887C>G (p.Pro296Arg) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000853323] |
Chr19:18788300 [GRCh38]
Chr19:18899109 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.763T>C (p.Cys255Arg) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV000853330]|not provided [RCV001597221] |
Chr19:18788514 [GRCh38]
Chr19:18899323 [GRCh37]
Chr19:19p13.11 |
likely pathogenic|uncertain significance |
| NM_000095.3(COMP):c.141C>T (p.Asp47=) |
single nucleotide variant |
not provided [RCV000980310] |
Chr19:18790874 [GRCh38]
Chr19:18901683 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1404C>T (p.Cys468=) |
single nucleotide variant |
not provided [RCV000975996] |
Chr19:18786050 [GRCh38]
Chr19:18896860 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1830C>T (p.Tyr610=) |
single nucleotide variant |
not provided [RCV000969318] |
Chr19:18784980 [GRCh38]
Chr19:18895790 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.2014C>T (p.Arg672Ter) |
single nucleotide variant |
COMP-related disorder [RCV004528391]|not provided [RCV003106124] |
Chr19:18784264 [GRCh38]
Chr19:18895074 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.217+15G>A |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001127819]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127820] |
Chr19:18790547 [GRCh38]
Chr19:18901356 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1894G>A (p.Glu632Lys) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001123441]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123440]|not provided [RCV002556666] |
Chr19:18784916 [GRCh38]
Chr19:18895726 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.831_851del (p.Asp277_Pro283del) |
deletion |
not provided [RCV001090558] |
Chr19:18788426..18788446 [GRCh38]
Chr19:18899235..18899255 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.2272T>C (p.Ter758Gln) |
single nucleotide variant |
COMP-related disorder [RCV004528390] |
Chr19:18782917 [GRCh38]
Chr19:18893727 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1956C>T (p.Asn652=) |
single nucleotide variant |
Connective tissue disorder [RCV002279667]|Multiple epiphyseal dysplasia type 1 [RCV001123439]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123438]|not provided [RCV000957928] |
Chr19:18784322 [GRCh38]
Chr19:18895132 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.1255-5C>T |
single nucleotide variant |
COMP-related disorder [RCV003977992]|not provided [RCV000913838] |
Chr19:18786296 [GRCh38]
Chr19:18897106 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.391-168C>G |
single nucleotide variant |
not provided [RCV001621544] |
Chr19:18789465 [GRCh38]
Chr19:18900274 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.391-254C>T |
single nucleotide variant |
not provided [RCV001595545] |
Chr19:18789551 [GRCh38]
Chr19:18900360 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.529-26G>A |
single nucleotide variant |
not provided [RCV001558877] |
Chr19:18788939 [GRCh38]
Chr19:18899748 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1255-79G>A |
single nucleotide variant |
not provided [RCV001560089] |
Chr19:18786370 [GRCh38]
Chr19:18897180 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.528+76T>C |
single nucleotide variant |
not provided [RCV001596174] |
Chr19:18789084 [GRCh38]
Chr19:18899893 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1526A>G (p.Asp509Gly) |
single nucleotide variant |
not provided [RCV003327823] |
Chr19:18785815 [GRCh38]
Chr19:18896625 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1A>G (p.Met1Val) |
single nucleotide variant |
Carpal tunnel syndrome 2 [RCV001543623] |
Chr19:18791269 [GRCh38]
Chr19:18902078 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.391-181G>A |
single nucleotide variant |
not provided [RCV001687417] |
Chr19:18789478 [GRCh38]
Chr19:18900287 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.390+269C>A |
single nucleotide variant |
not provided [RCV001565273] |
Chr19:18789673 [GRCh38]
Chr19:18900482 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1136-68dup |
duplication |
not provided [RCV001676666] |
Chr19:18786716..18786717 [GRCh38]
Chr19:18897526..18897527 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.345C>G (p.Pro115=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001123640]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123641] |
Chr19:18789987 [GRCh38]
Chr19:18900796 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2088-4T>C |
single nucleotide variant |
not specified [RCV001001302] |
Chr19:18783197 [GRCh38]
Chr19:18894007 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1000_1014del (p.Pro334_Asn338del) |
deletion |
not specified [RCV001001307] |
Chr19:18787612..18787626 [GRCh38]
Chr19:18898421..18898435 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1803T>C (p.Phe601=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001124534]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124533]|not provided [RCV002556699] |
Chr19:18785007 [GRCh38]
Chr19:18895817 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.218-14C>A |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001125717]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125716] |
Chr19:18790128 [GRCh38]
Chr19:18900937 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.876C>A (p.Cys292Ter) |
single nucleotide variant |
COMP-related disorder [RCV004528392] |
Chr19:18788311 [GRCh38]
Chr19:18899120 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.862C>A (p.Arg288Ser) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001123543]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123542]|not provided [RCV003688907] |
Chr19:18788415 [GRCh38]
Chr19:18899224 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.11A>C (p.Asp4Ala) |
single nucleotide variant |
Connective tissue disorder [RCV002276629]|Inborn genetic diseases [RCV002558210]|Multiple epiphyseal dysplasia type 1 [RCV001122041]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001122042]|not provided [RCV001856606] |
Chr19:18791259 [GRCh38]
Chr19:18902068 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.1318G>C (p.Gly440Arg) |
single nucleotide variant |
not provided [RCV001869425]|not specified [RCV001001082] |
Chr19:18786136 [GRCh38]
Chr19:18896946 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.437G>A (p.Ser146Asn) |
single nucleotide variant |
not specified [RCV001001200] |
Chr19:18789251 [GRCh38]
Chr19:18900060 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1136-127_1136-114del |
deletion |
not provided [RCV001647913] |
Chr19:18786764..18786777 [GRCh38]
Chr19:18897573..18897586 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1136-119_1136-114del |
deletion |
not provided [RCV001710973] |
Chr19:18786764..18786769 [GRCh38]
Chr19:18897573..18897578 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1718-185G>C |
single nucleotide variant |
not provided [RCV001710692] |
Chr19:18785277 [GRCh38]
Chr19:18896087 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1915-197C>T |
single nucleotide variant |
not provided [RCV001710524] |
Chr19:18784560 [GRCh38]
Chr19:18895370 [GRCh37]
Chr19:19p13.11 |
benign |
| NC_000019.10:g.18791576TG[12] |
microsatellite |
not provided [RCV001681991] |
Chr19:18791576..18791577 [GRCh38]
Chr19:18902385..18902386 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1718-143G>T |
single nucleotide variant |
not provided [RCV001669344] |
Chr19:18785235 [GRCh38]
Chr19:18896045 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.595A>G (p.Asn199Asp) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001706901] |
Chr19:18788847 [GRCh38]
Chr19:18899656 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1563G>A (p.Pro521=) |
single nucleotide variant |
COMP-related disorder [RCV003900829]|not provided [RCV001596845] |
Chr19:18785778 [GRCh38]
Chr19:18896588 [GRCh37]
Chr19:19p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000095.3(COMP):c.1475A>C (p.Gln492Pro) |
single nucleotide variant |
not provided [RCV001596866] |
Chr19:18785979 [GRCh38]
Chr19:18896789 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1915-96C>T |
single nucleotide variant |
not provided [RCV001588165] |
Chr19:18784459 [GRCh38]
Chr19:18895269 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.976-219_976-218dup |
duplication |
not provided [RCV001691750] |
Chr19:18787866..18787867 [GRCh38]
Chr19:18898675..18898676 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.*61G>A |
single nucleotide variant |
not provided [RCV001645469] |
Chr19:18782854 [GRCh38]
Chr19:18893664 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.391-41G>A |
single nucleotide variant |
not provided [RCV001693856] |
Chr19:18789338 [GRCh38]
Chr19:18900147 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.934T>C (p.Cys312Arg) |
single nucleotide variant |
not provided [RCV001090557] |
Chr19:18788253 [GRCh38]
Chr19:18899062 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.850G>A (p.Glu284Lys) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001123545]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123544]|not provided [RCV002556668] |
Chr19:18788427 [GRCh38]
Chr19:18899236 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.327G>T (p.Ala109=) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001123643]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123642] |
Chr19:18790005 [GRCh38]
Chr19:18900814 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.314C>A (p.Thr105Lys) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001123645]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123644] |
Chr19:18790018 [GRCh38]
Chr19:18900827 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1406A>T (p.Asp469Val) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001125546]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125545] |
Chr19:18786048 [GRCh38]
Chr19:18896858 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.924C>T (p.Ile308=) |
single nucleotide variant |
COMP-related disorder [RCV003945841]|Multiple epiphyseal dysplasia type 1 [RCV001127641]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127642] |
Chr19:18788263 [GRCh38]
Chr19:18899072 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.235C>A (p.Arg79Ser) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001124709]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124710] |
Chr19:18790097 [GRCh38]
Chr19:18900906 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.218-6C>G |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001124711]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124712]|not provided [RCV001520031] |
Chr19:18790120 [GRCh38]
Chr19:18900929 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.582C>G (p.Asn194Lys) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001125637]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125636] |
Chr19:18788860 [GRCh38]
Chr19:18899669 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.218-13C>A |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001125715]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125714] |
Chr19:18790127 [GRCh38]
Chr19:18900936 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.874T>C (p.Cys292Arg) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001805971]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250925]|not provided [RCV001383286] |
Chr19:18788313 [GRCh38]
Chr19:18899122 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic|association |
| NM_000095.3(COMP):c.1309G>A (p.Asp437Asn) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV002226751]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250923]|not provided [RCV001860606] |
Chr19:18786145 [GRCh38]
Chr19:18896955 [GRCh37]
Chr19:19p13.11 |
likely pathogenic|uncertain significance |
| NM_000095.3(COMP):c.1445A>T (p.Asp482Val) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250922] |
Chr19:18786009 [GRCh38]
Chr19:18896819 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1201G>C (p.Asp401His) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250924] |
Chr19:18786585 [GRCh38]
Chr19:18897395 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del) |
deletion |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250926] |
Chr19:18786033..18786038 [GRCh38]
Chr19:18896843..18896848 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1020C>G (p.Asp340Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004608332] |
Chr19:18787606 [GRCh38]
Chr19:18898415 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2020G>A (p.Val674Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004608333] |
Chr19:18784258 [GRCh38]
Chr19:18895068 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.976-240_976-223del |
deletion |
not provided [RCV001642041] |
Chr19:18787873..18787890 [GRCh38]
Chr19:18898682..18898699 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1135+305C>T |
single nucleotide variant |
not provided [RCV001565129] |
Chr19:18787186 [GRCh38]
Chr19:18897995 [GRCh37]
Chr19:19p13.11 |
likely benign |
| GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 |
copy number gain |
not provided [RCV001259370] |
Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12 |
pathogenic |
| NM_000095.3(COMP):c.79+102C>T |
single nucleotide variant |
not provided [RCV001812351] |
Chr19:18791089 [GRCh38]
Chr19:18901898 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1545C>G (p.Asp515Glu) |
single nucleotide variant |
not provided [RCV001307787] |
Chr19:18785796 [GRCh38]
Chr19:18896606 [GRCh37]
Chr19:19p13.11 |
pathogenic|uncertain significance |
| NM_000095.3(COMP):c.1210G>A (p.Gly404Arg) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001293718] |
Chr19:18786576 [GRCh38]
Chr19:18897386 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1255-2A>T |
single nucleotide variant |
not provided [RCV001351875] |
Chr19:18786293 [GRCh38]
Chr19:18897103 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2012C>A (p.Pro671Gln) |
single nucleotide variant |
not provided [RCV001340754] |
Chr19:18784266 [GRCh38]
Chr19:18895076 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1160G>T (p.Cys387Phe) |
single nucleotide variant |
not provided [RCV001315590] |
Chr19:18786626 [GRCh38]
Chr19:18897436 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1136-114del |
deletion |
not provided [RCV001537115] |
Chr19:18786764 [GRCh38]
Chr19:18897573 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1454G>A (p.Arg485His) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001280839] |
Chr19:18786000 [GRCh38]
Chr19:18896810 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.197T>A (p.Val66Glu) |
single nucleotide variant |
Carpal tunnel syndrome 2 [RCV001289466] |
Chr19:18790582 [GRCh38]
Chr19:18901391 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.875G>A (p.Cys292Tyr) |
single nucleotide variant |
not provided [RCV001351276] |
Chr19:18788312 [GRCh38]
Chr19:18899121 [GRCh37]
Chr19:19p13.11 |
likely pathogenic|uncertain significance |
| NM_000095.3(COMP):c.832G>A (p.Glu278Lys) |
single nucleotide variant |
not provided [RCV001360483] |
Chr19:18788445 [GRCh38]
Chr19:18899254 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.811G>T (p.Asp271Tyr) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002242312]|not provided [RCV001342121] |
Chr19:18788466 [GRCh38]
Chr19:18899275 [GRCh37]
Chr19:19p13.11 |
pathogenic|uncertain significance |
| NM_000095.3(COMP):c.1044C>A (p.Cys348Ter) |
single nucleotide variant |
not provided [RCV001321839] |
Chr19:18787582 [GRCh38]
Chr19:18898391 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1072G>T (p.Asp358Tyr) |
single nucleotide variant |
not provided [RCV001323017] |
Chr19:18787554 [GRCh38]
Chr19:18898363 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1032G>A (p.Trp344Ter) |
single nucleotide variant |
not provided [RCV001360936] |
Chr19:18787594 [GRCh38]
Chr19:18898403 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1403G>C (p.Cys468Ser) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001270873] |
Chr19:18786051 [GRCh38]
Chr19:18896861 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1201G>A (p.Asp401Asn) |
single nucleotide variant |
not provided [RCV001269548] |
Chr19:18786585 [GRCh38]
Chr19:18897395 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.307A>G (p.Ile103Val) |
single nucleotide variant |
not provided [RCV001300334] |
Chr19:18790025 [GRCh38]
Chr19:18900834 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.320G>A (p.Ser107Asn) |
single nucleotide variant |
not provided [RCV001340935] |
Chr19:18790012 [GRCh38]
Chr19:18900821 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1883G>C (p.Arg628Pro) |
single nucleotide variant |
not provided [RCV001356068] |
Chr19:18784927 [GRCh38]
Chr19:18895737 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1532A>T (p.Asp511Val) |
single nucleotide variant |
not provided [RCV001341269] |
Chr19:18785809 [GRCh38]
Chr19:18896619 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1247C>A (p.Pro416Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003263954]|not provided [RCV001322321] |
Chr19:18786539 [GRCh38]
Chr19:18897349 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1954A>G (p.Asn652Asp) |
single nucleotide variant |
not provided [RCV001342957] |
Chr19:18784324 [GRCh38]
Chr19:18895134 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.396C>G (p.Asn132Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003169832]|not provided [RCV001364433] |
Chr19:18789292 [GRCh38]
Chr19:18900101 [GRCh37]
Chr19:19p13.11 |
benign|uncertain significance |
| NM_000095.3(COMP):c.2228-3C>T |
single nucleotide variant |
not provided [RCV001315336] |
Chr19:18782964 [GRCh38]
Chr19:18893774 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1309G>T (p.Asp437Tyr) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002242574]|not provided [RCV001364544] |
Chr19:18786145 [GRCh38]
Chr19:18896955 [GRCh37]
Chr19:19p13.11 |
pathogenic|uncertain significance |
| NM_000095.3(COMP):c.1993C>T (p.Arg665Trp) |
single nucleotide variant |
not provided [RCV001337523] |
Chr19:18784285 [GRCh38]
Chr19:18895095 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.975+2T>G |
single nucleotide variant |
Multiple epiphyseal dysplasia 1 [RCV001334220] |
Chr19:18788210 [GRCh38]
Chr19:18899019 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1435G>C (p.Asp479His) |
single nucleotide variant |
not provided [RCV001367108] |
Chr19:18786019 [GRCh38]
Chr19:18896829 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.905A>G (p.Asp302Gly) |
single nucleotide variant |
not provided [RCV001327159] |
Chr19:18788282 [GRCh38]
Chr19:18899091 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.968A>G (p.Asn323Ser) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001354542]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001357397]|not provided [RCV001751693] |
Chr19:18788219 [GRCh38]
Chr19:18899028 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2187G>A (p.Gln729=) |
single nucleotide variant |
not provided [RCV001308035] |
Chr19:18783094 [GRCh38]
Chr19:18893904 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.796T>C (p.Cys266Arg) |
single nucleotide variant |
not provided [RCV001365622] |
Chr19:18788481 [GRCh38]
Chr19:18899290 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.867+5G>A |
single nucleotide variant |
not provided [RCV001304107] |
Chr19:18788405 [GRCh38]
Chr19:18899214 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.279C>G (p.Pro93=) |
single nucleotide variant |
not provided [RCV001394303] |
Chr19:18790053 [GRCh38]
Chr19:18900862 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1526A>T (p.Asp509Val) |
single nucleotide variant |
not provided [RCV001388113] |
Chr19:18785815 [GRCh38]
Chr19:18896625 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1414G>C (p.Asp472His) |
single nucleotide variant |
not provided [RCV001388114] |
Chr19:18786040 [GRCh38]
Chr19:18896850 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1318G>A (p.Gly440Arg) |
single nucleotide variant |
not provided [RCV001388115] |
Chr19:18786136 [GRCh38]
Chr19:18896946 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.795C>A (p.Leu265=) |
single nucleotide variant |
not provided [RCV001504342] |
Chr19:18788482 [GRCh38]
Chr19:18899291 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1317C>G (p.Asp439Glu) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV003232336]|not provided [RCV001377132] |
Chr19:18786137 [GRCh38]
Chr19:18896947 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1988A>T (p.Gln663Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002555158]|not provided [RCV001429888] |
Chr19:18784290 [GRCh38]
Chr19:18895100 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.2263C>T (p.Arg755Trp) |
single nucleotide variant |
not provided [RCV001401954] |
Chr19:18782926 [GRCh38]
Chr19:18893736 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1359C>G (p.Asn453Lys) |
single nucleotide variant |
not provided [RCV001377898] |
Chr19:18786095 [GRCh38]
Chr19:18896905 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.1189G>C (p.Asp397His) |
single nucleotide variant |
not provided [RCV001379385] |
Chr19:18786597 [GRCh38]
Chr19:18897407 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.976-228_976-223del |
deletion |
not provided [RCV001545724] |
Chr19:18787873..18787878 [GRCh38]
Chr19:18898682..18898687 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1304A>T (p.Asp435Val) |
single nucleotide variant |
not provided [RCV001597481] |
Chr19:18786242 [GRCh38]
Chr19:18897052 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1811A>G (p.Gln604Arg) |
single nucleotide variant |
not provided [RCV001597508] |
Chr19:18784999 [GRCh38]
Chr19:18895809 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.391-129T>A |
single nucleotide variant |
not provided [RCV001709155] |
Chr19:18789426 [GRCh38]
Chr19:18900235 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1136-118_1136-114del |
deletion |
not provided [RCV001681791] |
Chr19:18786764..18786768 [GRCh38]
Chr19:18897573..18897577 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.975+235C>G |
single nucleotide variant |
not provided [RCV001609243] |
Chr19:18787977 [GRCh38]
Chr19:18898786 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.976-223_976-222dup |
duplication |
not provided [RCV001691563] |
Chr19:18787870..18787871 [GRCh38]
Chr19:18898679..18898680 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.604-8C>G |
single nucleotide variant |
not provided [RCV001522045] |
Chr19:18788758 [GRCh38]
Chr19:18899567 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1136-142_1136-140dup |
duplication |
not provided [RCV001611811] |
Chr19:18786763..18786764 [GRCh38]
Chr19:18897572..18897573 [GRCh37]
Chr19:19p13.11 |
benign |
| NC_000019.10:g.18791576TG[14] |
microsatellite |
not provided [RCV001650399] |
Chr19:18791575..18791576 [GRCh38]
Chr19:18902384..18902385 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.391-71G>C |
single nucleotide variant |
not provided [RCV001590644] |
Chr19:18789368 [GRCh38]
Chr19:18900177 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1059C>T (p.Ser353=) |
single nucleotide variant |
not provided [RCV001469497] |
Chr19:18787567 [GRCh38]
Chr19:18898376 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1190A>T (p.Asp397Val) |
single nucleotide variant |
not provided [RCV001378665] |
Chr19:18786596 [GRCh38]
Chr19:18897406 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1467C>A (p.Asn489Lys) |
single nucleotide variant |
not provided [RCV001378429] |
Chr19:18785987 [GRCh38]
Chr19:18896797 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.1444G>A (p.Asp482Asn) |
single nucleotide variant |
not provided [RCV001379384] |
Chr19:18786010 [GRCh38]
Chr19:18896820 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1127A>T (p.Asp376Val) |
single nucleotide variant |
not provided [RCV001379386] |
Chr19:18787499 [GRCh38]
Chr19:18898308 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.949G>A (p.Asp317Asn) |
single nucleotide variant |
not provided [RCV001379387] |
Chr19:18788238 [GRCh38]
Chr19:18899047 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.1394G>T (p.Gly465Val) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002227890] |
Chr19:18786060 [GRCh38]
Chr19:18896870 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.2170dup (p.Val724fs) |
duplication |
Multiple epiphyseal dysplasia type 1 [RCV002238714] |
Chr19:18783110..18783111 [GRCh38]
Chr19:18893920..18893921 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.886C>T (p.Pro296Ser) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV002238717] |
Chr19:18788301 [GRCh38]
Chr19:18899110 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1367A>C (p.Gln456Pro) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV002238718] |
Chr19:18786087 [GRCh38]
Chr19:18896897 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.805G>A (p.Asp269Asn) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV003388609]|not provided [RCV001727082] |
Chr19:18788472 [GRCh38]
Chr19:18899281 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000095.3(COMP):c.1228T>G (p.Cys410Gly) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001730047] |
Chr19:18786558 [GRCh38]
Chr19:18897368 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.746G>T (p.Gly249Val) |
single nucleotide variant |
not provided [RCV002245129] |
Chr19:18788608 [GRCh38]
Chr19:18899417 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.891C>A (p.Asn297Lys) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002238715] |
Chr19:18788296 [GRCh38]
Chr19:18899105 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1521C>G (p.Asp507Glu) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002238716] |
Chr19:18785820 [GRCh38]
Chr19:18896630 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1471G>A (p.Gly491Ser) |
single nucleotide variant |
not provided [RCV001761433] |
Chr19:18785983 [GRCh38]
Chr19:18896793 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1136-1_1144del |
deletion |
not provided [RCV001780860] |
Chr19:18786642..18786651 [GRCh38]
Chr19:18897452..18897461 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1051T>C (p.Cys351Arg) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002240139] |
Chr19:18787575 [GRCh38]
Chr19:18898384 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1309G>C (p.Asp437His) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002240141] |
Chr19:18786145 [GRCh38]
Chr19:18896955 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1501G>A (p.Gly501Ser) |
single nucleotide variant |
Multiple epiphyseal dysplasia [RCV001787703]|Multiple epiphyseal dysplasia type 1 [RCV002236174]|not provided [RCV003546716] |
Chr19:18785840 [GRCh38]
Chr19:18896650 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.974A>T (p.Lys325Met) |
single nucleotide variant |
not provided [RCV001756752] |
Chr19:18788213 [GRCh38]
Chr19:18899022 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1403G>T (p.Cys468Phe) |
single nucleotide variant |
Abnormality of the skeletal system [RCV001814443] |
Chr19:18786051 [GRCh38]
Chr19:18896861 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.314C>T (p.Thr105Met) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001809006] |
Chr19:18790018 [GRCh38]
Chr19:18900827 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.925G>A (p.Gly309Arg) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001806405]|not provided [RCV003560854] |
Chr19:18788262 [GRCh38]
Chr19:18899071 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.983G>T (p.Cys328Phe) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001806420] |
Chr19:18787643 [GRCh38]
Chr19:18898452 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.976G>A (p.Asp326Asn) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001806396]|not provided [RCV002542418] |
Chr19:18787650 [GRCh38]
Chr19:18898459 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.817G>C (p.Asp273His) |
single nucleotide variant |
not provided [RCV001915174] |
Chr19:18788460 [GRCh38]
Chr19:18899269 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1201G>T (p.Asp401Tyr) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV001823667] |
Chr19:18786585 [GRCh38]
Chr19:18897395 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1382A>C (p.His461Pro) |
single nucleotide variant |
not provided [RCV001928281] |
Chr19:18786072 [GRCh38]
Chr19:18896882 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.798_799del (p.Cys266fs) |
microsatellite |
not provided [RCV001873081] |
Chr19:18788478..18788479 [GRCh38]
Chr19:18899287..18899288 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.895G>A (p.Gly299Arg) |
single nucleotide variant |
not provided [RCV001875035] |
Chr19:18788292 [GRCh38]
Chr19:18899101 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.762+5G>C |
single nucleotide variant |
not provided [RCV001930129] |
Chr19:18788587 [GRCh38]
Chr19:18899396 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1468C>A (p.Pro490Thr) |
single nucleotide variant |
not provided [RCV002025115] |
Chr19:18785986 [GRCh38]
Chr19:18896796 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.218-6C>A |
single nucleotide variant |
COMP-related disorder [RCV003976244]|not provided [RCV001874628] |
Chr19:18790120 [GRCh38]
Chr19:18900929 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.2065C>T (p.Arg689Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004039158]|not provided [RCV001891252] |
Chr19:18784213 [GRCh38]
Chr19:18895023 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1442G>A (p.Arg481Gln) |
single nucleotide variant |
not provided [RCV002004072] |
Chr19:18786012 [GRCh38]
Chr19:18896822 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.477C>G (p.Ser159Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002579615]|not provided [RCV002005614] |
Chr19:18789211 [GRCh38]
Chr19:18900020 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1666C>T (p.Gln556Ter) |
single nucleotide variant |
not provided [RCV002004179] |
Chr19:18785675 [GRCh38]
Chr19:18896485 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1319G>A (p.Gly440Glu) |
single nucleotide variant |
COMP-related disorder [RCV004754813]|not provided [RCV001984983] |
Chr19:18786135 [GRCh38]
Chr19:18896945 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1229G>A (p.Cys410Tyr) |
single nucleotide variant |
not provided [RCV001892653] |
Chr19:18786557 [GRCh38]
Chr19:18897367 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.806A>C (p.Asp269Ala) |
single nucleotide variant |
not provided [RCV002006097] |
Chr19:18788471 [GRCh38]
Chr19:18899280 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1311_1316del (p.437DG[1]) |
deletion |
not provided [RCV001984279] |
Chr19:18786138..18786143 [GRCh38]
Chr19:18896948..18896953 [GRCh37]
Chr19:19p13.11 |
likely pathogenic|uncertain significance |
| NM_000095.3(COMP):c.2242G>A (p.Asp748Asn) |
single nucleotide variant |
not provided [RCV001890701] |
Chr19:18782947 [GRCh38]
Chr19:18893757 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1228T>C (p.Cys410Arg) |
single nucleotide variant |
not provided [RCV002022844] |
Chr19:18786558 [GRCh38]
Chr19:18897368 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.555G>C (p.Glu185Asp) |
single nucleotide variant |
not provided [RCV002020655] |
Chr19:18788887 [GRCh38]
Chr19:18899696 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1126G>C (p.Asp376His) |
single nucleotide variant |
not provided [RCV001945476] |
Chr19:18787500 [GRCh38]
Chr19:18898309 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1469C>G (p.Pro490Arg) |
single nucleotide variant |
not provided [RCV002004327] |
Chr19:18785985 [GRCh38]
Chr19:18896795 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1096_1097insATGCGT (p.Gly366delinsAspAlaCys) |
insertion |
not provided [RCV002024488] |
Chr19:18787529..18787530 [GRCh38]
Chr19:18898338..18898339 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1279G>A (p.Gly427Arg) |
single nucleotide variant |
not provided [RCV001986315] |
Chr19:18786267 [GRCh38]
Chr19:18897077 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1111T>C (p.Cys371Arg) |
single nucleotide variant |
not provided [RCV001966990] |
Chr19:18787515 [GRCh38]
Chr19:18898324 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.955G>A (p.Asp319Asn) |
single nucleotide variant |
not provided [RCV002023198] |
Chr19:18788232 [GRCh38]
Chr19:18899041 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1429G>A (p.Val477Ile) |
single nucleotide variant |
not provided [RCV002023754] |
Chr19:18786025 [GRCh38]
Chr19:18896835 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1249G>T (p.Asp417Tyr) |
single nucleotide variant |
not provided [RCV001871244] |
Chr19:18786537 [GRCh38]
Chr19:18897347 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.905A>T (p.Asp302Val) |
single nucleotide variant |
not provided [RCV001927808] |
Chr19:18788282 [GRCh38]
Chr19:18899091 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NC_000019.9:g.(?_18893725)_(18902078_?)dup |
duplication |
not provided [RCV001909641] |
Chr19:18893725..18902078 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.705C>T (p.Ser235=) |
single nucleotide variant |
not provided [RCV001889900] |
Chr19:18788649 [GRCh38]
Chr19:18899458 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1957G>A (p.Ala653Thr) |
single nucleotide variant |
not provided [RCV002020593] |
Chr19:18784321 [GRCh38]
Chr19:18895131 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.658G>C (p.Gly220Arg) |
single nucleotide variant |
not provided [RCV002000788] |
Chr19:18788696 [GRCh38]
Chr19:18899505 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2219G>A (p.Arg740His) |
single nucleotide variant |
not provided [RCV001888582] |
Chr19:18783062 [GRCh38]
Chr19:18893872 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1336G>C (p.Asp446His) |
single nucleotide variant |
not provided [RCV001996426] |
Chr19:18786118 [GRCh38]
Chr19:18896928 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.887C>T (p.Pro296Leu) |
single nucleotide variant |
not provided [RCV001975876] |
Chr19:18788300 [GRCh38]
Chr19:18899109 [GRCh37]
Chr19:19p13.11 |
likely pathogenic|uncertain significance |
| NM_000095.3(COMP):c.1068C>G (p.Asn356Lys) |
single nucleotide variant |
not provided [RCV002001422] |
Chr19:18787558 [GRCh38]
Chr19:18898367 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1882C>T (p.Arg628Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004044244]|not provided [RCV001923995] |
Chr19:18784928 [GRCh38]
Chr19:18895738 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1132G>A (p.Asp378Asn) |
single nucleotide variant |
COMP-related disorder [RCV004754819]|not provided [RCV001942221] |
Chr19:18787494 [GRCh38]
Chr19:18898303 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.1196A>T (p.Asp399Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002550465]|not provided [RCV002028021] |
Chr19:18786590 [GRCh38]
Chr19:18897400 [GRCh37]
Chr19:19p13.11 |
pathogenic|uncertain significance |
| NM_000095.3(COMP):c.499G>T (p.Gly167Trp) |
single nucleotide variant |
not provided [RCV002051372] |
Chr19:18789189 [GRCh38]
Chr19:18899998 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1331C>G (p.Ser444Cys) |
single nucleotide variant |
Connective tissue disorder [RCV002276979]|Inborn genetic diseases [RCV002642039]|not provided [RCV001996175] |
Chr19:18786123 [GRCh38]
Chr19:18896933 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NC_000019.9:g.(?_18893725)_(19312528_?)del |
deletion |
Progressive myoclonic epilepsy type 8 [RCV001955725] |
Chr19:18893725..19312528 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.592A>T (p.Ile198Phe) |
single nucleotide variant |
not provided [RCV002033376] |
Chr19:18788850 [GRCh38]
Chr19:18899659 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1043G>A (p.Cys348Tyr) |
single nucleotide variant |
not provided [RCV001974324] |
Chr19:18787583 [GRCh38]
Chr19:18898392 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1280G>A (p.Gly427Glu) |
single nucleotide variant |
not provided [RCV001953820] |
Chr19:18786266 [GRCh38]
Chr19:18897076 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.397_398del (p.Ala133fs) |
deletion |
not provided [RCV002026522] |
Chr19:18789290..18789291 [GRCh38]
Chr19:18900099..18900100 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1265A>G (p.Asp422Gly) |
single nucleotide variant |
not provided [RCV001898903] |
Chr19:18786281 [GRCh38]
Chr19:18897091 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.390+5G>A |
single nucleotide variant |
not provided [RCV002047874] |
Chr19:18789937 [GRCh38]
Chr19:18900746 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1153_1155del (p.Asp385del) |
deletion |
not provided [RCV002014149] |
Chr19:18786631..18786633 [GRCh38]
Chr19:18897441..18897443 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.2092C>T (p.Arg698Ter) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV003138042]|not provided [RCV002014278] |
Chr19:18783189 [GRCh38]
Chr19:18893999 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.806A>G (p.Asp269Gly) |
single nucleotide variant |
not provided [RCV001901791] |
Chr19:18788471 [GRCh38]
Chr19:18899280 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.358G>T (p.Gly120Cys) |
single nucleotide variant |
not provided [RCV001880401] |
Chr19:18789974 [GRCh38]
Chr19:18900783 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2245T>C (p.Tyr749His) |
single nucleotide variant |
not provided [RCV001960920] |
Chr19:18782944 [GRCh38]
Chr19:18893754 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1871C>T (p.Ala624Val) |
single nucleotide variant |
not provided [RCV001939116] |
Chr19:18784939 [GRCh38]
Chr19:18895749 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1496G>T (p.Gly499Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003247068]|not provided [RCV001902025] |
Chr19:18785845 [GRCh38]
Chr19:18896655 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1240A>C (p.Ser414Arg) |
single nucleotide variant |
not provided [RCV001961538] |
Chr19:18786546 [GRCh38]
Chr19:18897356 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1268A>C (p.His423Pro) |
single nucleotide variant |
not provided [RCV002033852] |
Chr19:18786278 [GRCh38]
Chr19:18897088 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.760G>A (p.Val254Met) |
single nucleotide variant |
not provided [RCV002016625] |
Chr19:18788594 [GRCh38]
Chr19:18899403 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1553A>G (p.Asp518Gly) |
single nucleotide variant |
not provided [RCV001864873] |
Chr19:18785788 [GRCh38]
Chr19:18896598 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1113C>G (p.Cys371Trp) |
single nucleotide variant |
not provided [RCV002014848] |
Chr19:18787513 [GRCh38]
Chr19:18898322 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1870G>A (p.Ala624Thr) |
single nucleotide variant |
not provided [RCV001915977] |
Chr19:18784940 [GRCh38]
Chr19:18895750 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.762+12C>T |
single nucleotide variant |
not provided [RCV001937607] |
Chr19:18788580 [GRCh38]
Chr19:18899389 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1581_1586del (p.Leu528_Thr529del) |
deletion |
not provided [RCV002046288] |
Chr19:18785755..18785760 [GRCh38]
Chr19:18896565..18896570 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.228G>T (p.Gln76His) |
single nucleotide variant |
not provided [RCV001935812] |
Chr19:18790104 [GRCh38]
Chr19:18900913 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1520A>G (p.Asp507Gly) |
single nucleotide variant |
not provided [RCV001900238] |
Chr19:18785821 [GRCh38]
Chr19:18896631 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1136G>A (p.Arg379Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003289182]|not provided [RCV001882024] |
Chr19:18786650 [GRCh38]
Chr19:18897460 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1441C>T (p.Arg481Trp) |
single nucleotide variant |
not provided [RCV001999275] |
Chr19:18786013 [GRCh38]
Chr19:18896823 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1045G>A (p.Asp349Asn) |
single nucleotide variant |
not provided [RCV001933821] |
Chr19:18787581 [GRCh38]
Chr19:18898390 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1579A>G (p.Thr527Ala) |
single nucleotide variant |
not provided [RCV002033868] |
Chr19:18785762 [GRCh38]
Chr19:18896572 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1404C>G (p.Cys468Trp) |
single nucleotide variant |
not provided [RCV001998503] |
Chr19:18786050 [GRCh38]
Chr19:18896860 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1632C>A (p.Asp544Glu) |
single nucleotide variant |
not provided [RCV001998184] |
Chr19:18785709 [GRCh38]
Chr19:18896519 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.167T>C (p.Val56Ala) |
single nucleotide variant |
not provided [RCV002031481] |
Chr19:18790612 [GRCh38]
Chr19:18901421 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1634C>T (p.Ala545Val) |
single nucleotide variant |
not provided [RCV002019346] |
Chr19:18785707 [GRCh38]
Chr19:18896517 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1924T>A (p.Ser642Thr) |
single nucleotide variant |
not provided [RCV001886055] |
Chr19:18784354 [GRCh38]
Chr19:18895164 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.929A>T (p.Asp310Val) |
single nucleotide variant |
not provided [RCV001877281] |
Chr19:18788258 [GRCh38]
Chr19:18899067 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del) |
microsatellite |
Multiple epiphyseal dysplasia type 1 [RCV002290796]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002259406]|not provided [RCV001901762] |
Chr19:18787504..18787506 [GRCh38]
Chr19:18898313..18898315 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.2155G>T (p.Gly719Cys) |
single nucleotide variant |
not provided [RCV001996039] |
Chr19:18783126 [GRCh38]
Chr19:18893936 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1691T>C (p.Met564Thr) |
single nucleotide variant |
not provided [RCV001877419] |
Chr19:18785524 [GRCh38]
Chr19:18896334 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1021G>A (p.Glu341Lys) |
single nucleotide variant |
not provided [RCV001974091] |
Chr19:18787605 [GRCh38]
Chr19:18898414 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.684C>G (p.Phe228Leu) |
single nucleotide variant |
not provided [RCV001976930] |
Chr19:18788670 [GRCh38]
Chr19:18899479 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1279G>C (p.Gly427Arg) |
single nucleotide variant |
not provided [RCV002017145] |
Chr19:18786267 [GRCh38]
Chr19:18897077 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1503C>T (p.Gly501=) |
single nucleotide variant |
not provided [RCV002012099] |
Chr19:18785838 [GRCh38]
Chr19:18896648 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.58G>A (p.Gly20Arg) |
single nucleotide variant |
not provided [RCV001899562] |
Chr19:18791212 [GRCh38]
Chr19:18902021 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1239G>A (p.Lys413=) |
single nucleotide variant |
not provided [RCV002209407] |
Chr19:18786547 [GRCh38]
Chr19:18897357 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.390+18C>G |
single nucleotide variant |
not provided [RCV002089580] |
Chr19:18789924 [GRCh38]
Chr19:18900733 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.219G>C (p.Gly73=) |
single nucleotide variant |
not provided [RCV002191072] |
Chr19:18790113 [GRCh38]
Chr19:18900922 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1481A>G (p.Asp494Gly) |
single nucleotide variant |
not provided [RCV002224622] |
Chr19:18785973 [GRCh38]
Chr19:18896783 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2228-20C>T |
single nucleotide variant |
not provided [RCV002092251] |
Chr19:18782981 [GRCh38]
Chr19:18893791 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2087+11C>T |
single nucleotide variant |
not provided [RCV002109736] |
Chr19:18784180 [GRCh38]
Chr19:18894990 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2228-19G>A |
single nucleotide variant |
not provided [RCV002128323] |
Chr19:18782980 [GRCh38]
Chr19:18893790 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.949G>T (p.Asp317Tyr) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV002249014] |
Chr19:18788238 [GRCh38]
Chr19:18899047 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.2166G>C (p.Leu722=) |
single nucleotide variant |
not provided [RCV002207765] |
Chr19:18783115 [GRCh38]
Chr19:18893925 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1254+18T>C |
single nucleotide variant |
not provided [RCV002110826] |
Chr19:18786514 [GRCh38]
Chr19:18897324 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.165+19G>A |
single nucleotide variant |
not provided [RCV002191419] |
Chr19:18790831 [GRCh38]
Chr19:18901640 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2082C>T (p.Tyr694=) |
single nucleotide variant |
not provided [RCV002187879] |
Chr19:18784196 [GRCh38]
Chr19:18895006 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.412C>G (p.Pro138Ala) |
single nucleotide variant |
not provided [RCV002092174] |
Chr19:18789276 [GRCh38]
Chr19:18900085 [GRCh37]
Chr19:19p13.11 |
benign|conflicting interpretations of pathogenicity |
| NM_000095.3(COMP):c.218-5C>G |
single nucleotide variant |
not provided [RCV002104481] |
Chr19:18790119 [GRCh38]
Chr19:18900928 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.500G>A (p.Gly167Glu) |
single nucleotide variant |
Multiple epiphyseal dysplasia [RCV002210944] |
Chr19:18789188 [GRCh38]
Chr19:18899997 [GRCh37]
Chr19:19p13.11 |
not provided |
| NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del) |
deletion |
Multiple epiphyseal dysplasia [RCV002210947] |
Chr19:18787522..18787527 [GRCh38]
Chr19:18898331..18898336 [GRCh37]
Chr19:19p13.11 |
not provided |
| NM_000095.3(COMP):c.166-16C>T |
single nucleotide variant |
not provided [RCV002131184] |
Chr19:18790629 [GRCh38]
Chr19:18901438 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.255G>A (p.Val85=) |
single nucleotide variant |
not provided [RCV002173237] |
Chr19:18790077 [GRCh38]
Chr19:18900886 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1581G>A (p.Thr527=) |
single nucleotide variant |
Connective tissue disorder [RCV002277006]|not provided [RCV002195312] |
Chr19:18785760 [GRCh38]
Chr19:18896570 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.2133G>A (p.Val711=) |
single nucleotide variant |
not provided [RCV002116358] |
Chr19:18783148 [GRCh38]
Chr19:18893958 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2034C>T (p.Asp678=) |
single nucleotide variant |
not provided [RCV002167576] |
Chr19:18784244 [GRCh38]
Chr19:18895054 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1668+20G>T |
single nucleotide variant |
not provided [RCV002115907] |
Chr19:18785653 [GRCh38]
Chr19:18896463 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.576C>G (p.Val192=) |
single nucleotide variant |
not provided [RCV002173419] |
Chr19:18788866 [GRCh38]
Chr19:18899675 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1489+7C>G |
single nucleotide variant |
not provided [RCV002176987] |
Chr19:18785958 [GRCh38]
Chr19:18896768 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.36C>T (p.Thr12=) |
single nucleotide variant |
not provided [RCV002175398] |
Chr19:18791234 [GRCh38]
Chr19:18902043 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2227+18G>A |
single nucleotide variant |
not provided [RCV002218131] |
Chr19:18783036 [GRCh38]
Chr19:18893846 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1680C>A (p.Ile560=) |
single nucleotide variant |
not provided [RCV002135643] |
Chr19:18785535 [GRCh38]
Chr19:18896345 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1126G>A (p.Asp376Asn) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV002221407] |
Chr19:18787500 [GRCh38]
Chr19:18898309 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1938C>T (p.Pro646=) |
single nucleotide variant |
not provided [RCV002217475] |
Chr19:18784340 [GRCh38]
Chr19:18895150 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.528+12G>T |
single nucleotide variant |
not provided [RCV002118957] |
Chr19:18789148 [GRCh38]
Chr19:18899957 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.868-16C>T |
single nucleotide variant |
not provided [RCV002104198] |
Chr19:18788335 [GRCh38]
Chr19:18899144 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.918T>C (p.Asp306=) |
single nucleotide variant |
not provided [RCV002175838] |
Chr19:18788269 [GRCh38]
Chr19:18899078 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.382G>A (p.Val128Ile) |
single nucleotide variant |
Connective tissue disorder [RCV002276997]|not provided [RCV002154868] |
Chr19:18789950 [GRCh38]
Chr19:18900759 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.1669-20_1669-18del |
microsatellite |
not provided [RCV002219617] |
Chr19:18785564..18785566 [GRCh38]
Chr19:18896374..18896376 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.604-12_604-4dup |
duplication |
not provided [RCV003115893] |
Chr19:18788753..18788754 [GRCh38]
Chr19:18899562..18899563 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NC_000019.9:g.(?_17927663)_(19312528_?)dup |
duplication |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116292] |
Chr19:17927663..19312528 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.142G>T (p.Val48Leu) |
single nucleotide variant |
not provided [RCV003117915] |
Chr19:18790873 [GRCh38]
Chr19:18901682 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.936C>A (p.Cys312Ter) |
single nucleotide variant |
not provided [RCV003123153] |
Chr19:18788251 [GRCh38]
Chr19:18899060 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1682T>C (p.Val561Ala) |
single nucleotide variant |
not provided [RCV003327760] |
Chr19:18785533 [GRCh38]
Chr19:18896343 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.111A>C (p.Glu37Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004608329] |
Chr19:18790904 [GRCh38]
Chr19:18901713 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.227A>G (p.Gln76Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004608331] |
Chr19:18790105 [GRCh38]
Chr19:18900914 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.856C>G (p.Gln286Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004608334] |
Chr19:18788421 [GRCh38]
Chr19:18899230 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.868G>T (p.Asp290Tyr) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002227954] |
Chr19:18788319 [GRCh38]
Chr19:18899128 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1316A>G (p.Asp439Gly) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV003153166] |
Chr19:18786138 [GRCh38]
Chr19:18896948 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.166-15A>G |
single nucleotide variant |
not provided [RCV003666172] |
Chr19:18790628 [GRCh38]
Chr19:18901437 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1417G>C (p.Asp473His) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV003234856] |
Chr19:18786037 [GRCh38]
Chr19:18896847 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.529-2A>T |
single nucleotide variant |
See cases [RCV002275377] |
Chr19:18788915 [GRCh38]
Chr19:18899724 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1978A>G (p.Thr660Ala) |
single nucleotide variant |
not provided [RCV002273620] |
Chr19:18784300 [GRCh38]
Chr19:18895110 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1521C>A (p.Asp507Glu) |
single nucleotide variant |
Connective tissue disorder [RCV002278709] |
Chr19:18785820 [GRCh38]
Chr19:18896630 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.768C>A (p.Ala256=) |
single nucleotide variant |
Connective tissue disorder [RCV002278712] |
Chr19:18788509 [GRCh38]
Chr19:18899318 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2048G>A (p.Arg683His) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV002269814] |
Chr19:18784230 [GRCh38]
Chr19:18895040 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.781_782inv (p.Gly261Pro) |
inversion |
not provided [RCV002276066] |
Chr19:18788495..18788496 [GRCh38]
Chr19:18899304..18899305 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.217+4A>G |
single nucleotide variant |
Connective tissue disorder [RCV002278711] |
Chr19:18790558 [GRCh38]
Chr19:18901367 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1665C>G (p.Asn555Lys) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV002288301]|not provided [RCV003097765] |
Chr19:18785676 [GRCh38]
Chr19:18896486 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.2077G>T (p.Gly693Cys) |
single nucleotide variant |
not provided [RCV003234281] |
Chr19:18784201 [GRCh38]
Chr19:18895011 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2078dup (p.Tyr694fs) |
duplication |
not provided [RCV002837843] |
Chr19:18784199..18784200 [GRCh38]
Chr19:18895009..18895010 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1045G>C (p.Asp349His) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002306432] |
Chr19:18787581 [GRCh38]
Chr19:18898390 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.762+13G>T |
single nucleotide variant |
not specified [RCV002308603] |
Chr19:18788579 [GRCh38]
Chr19:18899388 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1545C>A (p.Asp515Glu) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002306428] |
Chr19:18785796 [GRCh38]
Chr19:18896606 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1775C>G (p.Thr592Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002901547] |
Chr19:18785035 [GRCh38]
Chr19:18895845 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.440C>T (p.Pro147Leu) |
single nucleotide variant |
not provided [RCV002842083] |
Chr19:18789248 [GRCh38]
Chr19:18900057 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2208C>A (p.Asn736Lys) |
single nucleotide variant |
not provided [RCV003013585] |
Chr19:18783073 [GRCh38]
Chr19:18893883 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.794T>C (p.Leu265Pro) |
single nucleotide variant |
not provided [RCV003032708] |
Chr19:18788483 [GRCh38]
Chr19:18899292 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1490G>T (p.Arg497Met) |
single nucleotide variant |
not provided [RCV002995395] |
Chr19:18785851 [GRCh38]
Chr19:18896661 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1417G>A (p.Asp473Asn) |
single nucleotide variant |
not provided [RCV002511927] |
Chr19:18786037 [GRCh38]
Chr19:18896847 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.646G>T (p.Asp216Tyr) |
single nucleotide variant |
not provided [RCV002614130] |
Chr19:18788708 [GRCh38]
Chr19:18899517 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1054C>T (p.Arg352Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002729109]|not provided [RCV003777692] |
Chr19:18787572 [GRCh38]
Chr19:18898381 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.927A>T (p.Gly309=) |
single nucleotide variant |
not provided [RCV002838303] |
Chr19:18788260 [GRCh38]
Chr19:18899069 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1200C>G (p.Gly400=) |
single nucleotide variant |
not provided [RCV002839233] |
Chr19:18786586 [GRCh38]
Chr19:18897396 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1494C>T (p.Asp498=) |
single nucleotide variant |
not provided [RCV002731407] |
Chr19:18785847 [GRCh38]
Chr19:18896657 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1677G>A (p.Glu559=) |
single nucleotide variant |
not provided [RCV002616140] |
Chr19:18785538 [GRCh38]
Chr19:18896348 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.1758C>T (p.Phe586=) |
single nucleotide variant |
not provided [RCV002996826] |
Chr19:18785052 [GRCh38]
Chr19:18895862 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1793G>A (p.Gly598Asp) |
single nucleotide variant |
not provided [RCV002927989] |
Chr19:18785017 [GRCh38]
Chr19:18895827 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.684C>T (p.Phe228=) |
single nucleotide variant |
not provided [RCV002593388] |
Chr19:18788670 [GRCh38]
Chr19:18899479 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.988C>G (p.Leu330Val) |
single nucleotide variant |
not provided [RCV002571140] |
Chr19:18787638 [GRCh38]
Chr19:18898447 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1483G>A (p.Ala495Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002738101] |
Chr19:18785971 [GRCh38]
Chr19:18896781 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1527T>A (p.Asp509Glu) |
single nucleotide variant |
not provided [RCV002825553] |
Chr19:18785814 [GRCh38]
Chr19:18896624 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1255-2A>G |
single nucleotide variant |
not provided [RCV003003323] |
Chr19:18786293 [GRCh38]
Chr19:18897103 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.391-14C>A |
single nucleotide variant |
not provided [RCV002569560] |
Chr19:18789311 [GRCh38]
Chr19:18900120 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1617G>A (p.Leu539=) |
single nucleotide variant |
not provided [RCV002572197] |
Chr19:18785724 [GRCh38]
Chr19:18896534 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.79+13A>G |
single nucleotide variant |
not provided [RCV002800400] |
Chr19:18791178 [GRCh38]
Chr19:18901987 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.289T>C (p.Phe97Leu) |
single nucleotide variant |
not provided [RCV002820437] |
Chr19:18790043 [GRCh38]
Chr19:18900852 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1738G>C (p.Val580Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002950261] |
Chr19:18785072 [GRCh38]
Chr19:18895882 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1979_1980del (p.Thr660fs) |
microsatellite |
not provided [RCV003054168] |
Chr19:18784298..18784299 [GRCh38]
Chr19:18895108..18895109 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1453C>G (p.Arg485Gly) |
single nucleotide variant |
not provided [RCV002736226] |
Chr19:18786001 [GRCh38]
Chr19:18896811 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1358A>C (p.Asn453Thr) |
single nucleotide variant |
not provided [RCV002820681] |
Chr19:18786096 [GRCh38]
Chr19:18896906 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1123_1128del (p.Ile375_Asp376del) |
deletion |
not provided [RCV003020597] |
Chr19:18787498..18787503 [GRCh38]
Chr19:18898307..18898312 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1258G>T (p.Asp420Tyr) |
single nucleotide variant |
not provided [RCV002866455] |
Chr19:18786288 [GRCh38]
Chr19:18897098 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1770G>A (p.Thr590=) |
single nucleotide variant |
not provided [RCV003002256] |
Chr19:18785040 [GRCh38]
Chr19:18895850 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.920G>C (p.Gly307Ala) |
single nucleotide variant |
not provided [RCV002780245] |
Chr19:18788267 [GRCh38]
Chr19:18899076 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2122G>A (p.Asp708Asn) |
single nucleotide variant |
not provided [RCV002636704] |
Chr19:18783159 [GRCh38]
Chr19:18893969 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1164T>A (p.Pro388=) |
single nucleotide variant |
not provided [RCV002823818] |
Chr19:18786622 [GRCh38]
Chr19:18897432 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.867+17C>A |
single nucleotide variant |
not provided [RCV002761215] |
Chr19:18788393 [GRCh38]
Chr19:18899202 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1217C>T (p.Ala406Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002761820] |
Chr19:18786569 [GRCh38]
Chr19:18897379 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1898C>T (p.Pro633Leu) |
single nucleotide variant |
not provided [RCV003019332] |
Chr19:18784912 [GRCh38]
Chr19:18895722 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.498G>C (p.Val166=) |
single nucleotide variant |
not provided [RCV003057146] |
Chr19:18789190 [GRCh38]
Chr19:18899999 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.71G>A (p.Ser24Asn) |
single nucleotide variant |
not provided [RCV002597356] |
Chr19:18791199 [GRCh38]
Chr19:18902008 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2227+13C>T |
single nucleotide variant |
not provided [RCV002667794] |
Chr19:18783041 [GRCh38]
Chr19:18893851 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2088-2_2088-1del |
deletion |
not provided [RCV002575725] |
Chr19:18783194..18783195 [GRCh38]
Chr19:18894004..18894005 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.818A>G (p.Asp273Gly) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV002790043] |
Chr19:18788459 [GRCh38]
Chr19:18899268 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.54G>T (p.Ala18=) |
single nucleotide variant |
not provided [RCV002958800] |
Chr19:18791216 [GRCh38]
Chr19:18902025 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.166-9C>G |
single nucleotide variant |
not provided [RCV003059331] |
Chr19:18790622 [GRCh38]
Chr19:18901431 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.268C>G (p.His90Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002712505] |
Chr19:18790064 [GRCh38]
Chr19:18900873 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2089G>A (p.Val697Met) |
single nucleotide variant |
not provided [RCV003056078] |
Chr19:18783192 [GRCh38]
Chr19:18894002 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1464T>C (p.Pro488=) |
single nucleotide variant |
not provided [RCV002663574] |
Chr19:18785990 [GRCh38]
Chr19:18896800 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2090T>C (p.Val697Ala) |
single nucleotide variant |
not provided [RCV002574930] |
Chr19:18783191 [GRCh38]
Chr19:18894001 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.528G>T (p.Gln176His) |
single nucleotide variant |
not provided [RCV002626948] |
Chr19:18789160 [GRCh38]
Chr19:18899969 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1233C>G (p.Pro411=) |
single nucleotide variant |
not provided [RCV002602828] |
Chr19:18786553 [GRCh38]
Chr19:18897363 [GRCh37]
Chr19:19p13.11 |
benign |
| NM_000095.3(COMP):c.503T>C (p.Leu168Pro) |
single nucleotide variant |
not provided [RCV003065308] |
Chr19:18789185 [GRCh38]
Chr19:18899994 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.704G>A (p.Ser235Asn) |
single nucleotide variant |
not provided [RCV003031823] |
Chr19:18788650 [GRCh38]
Chr19:18899459 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.955del (p.Asp319fs) |
deletion |
not provided [RCV003031922] |
Chr19:18788232 [GRCh38]
Chr19:18899041 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.992T>C (p.Val331Ala) |
single nucleotide variant |
not provided [RCV002720649] |
Chr19:18787634 [GRCh38]
Chr19:18898443 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1136-14G>A |
single nucleotide variant |
not provided [RCV002630352] |
Chr19:18786664 [GRCh38]
Chr19:18897474 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2232C>A (p.Thr744=) |
single nucleotide variant |
not provided [RCV002811093] |
Chr19:18782957 [GRCh38]
Chr19:18893767 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1511G>A (p.Cys504Tyr) |
single nucleotide variant |
not provided [RCV003064568] |
Chr19:18785830 [GRCh38]
Chr19:18896640 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1255-18G>A |
single nucleotide variant |
not provided [RCV002576546] |
Chr19:18786309 [GRCh38]
Chr19:18897119 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2047C>T (p.Arg683Cys) |
single nucleotide variant |
not provided [RCV002577297] |
Chr19:18784231 [GRCh38]
Chr19:18895041 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.811G>A (p.Asp271Asn) |
single nucleotide variant |
not provided [RCV003028409] |
Chr19:18788466 [GRCh38]
Chr19:18899275 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1052G>A (p.Cys351Tyr) |
single nucleotide variant |
not provided [RCV003064570] |
Chr19:18787574 [GRCh38]
Chr19:18898383 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.958G>A (p.Gly320Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002718150] |
Chr19:18788229 [GRCh38]
Chr19:18899038 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1969A>G (p.Thr657Ala) |
single nucleotide variant |
not provided [RCV003048536] |
Chr19:18784309 [GRCh38]
Chr19:18895119 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.768C>G (p.Ala256=) |
single nucleotide variant |
not provided [RCV002580356] |
Chr19:18788509 [GRCh38]
Chr19:18899318 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.303C>G (p.Ala101=) |
single nucleotide variant |
not provided [RCV003046860] |
Chr19:18790029 [GRCh38]
Chr19:18900838 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.471G>T (p.Gly157=) |
single nucleotide variant |
not provided [RCV002602156] |
Chr19:18789217 [GRCh38]
Chr19:18900026 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.786C>G (p.Asn262Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002965335] |
Chr19:18788491 [GRCh38]
Chr19:18899300 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.889_890del (p.Asn297fs) |
deletion |
not provided [RCV002720072] |
Chr19:18788297..18788298 [GRCh38]
Chr19:18899106..18899107 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.489C>T (p.His163=) |
single nucleotide variant |
not provided [RCV003086744] |
Chr19:18789199 [GRCh38]
Chr19:18900008 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1049A>C (p.Asn350Thr) |
single nucleotide variant |
not provided [RCV003026553] |
Chr19:18787577 [GRCh38]
Chr19:18898386 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.920G>A (p.Gly307Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002831576] |
Chr19:18788267 [GRCh38]
Chr19:18899076 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1372G>T (p.Asp458Tyr) |
single nucleotide variant |
not provided [RCV003064569] |
Chr19:18786082 [GRCh38]
Chr19:18896892 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1104C>A (p.Gly368=) |
single nucleotide variant |
not provided [RCV002630596] |
Chr19:18787522 [GRCh38]
Chr19:18898331 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1962G>A (p.Leu654=) |
single nucleotide variant |
not provided [RCV002581673] |
Chr19:18784316 [GRCh38]
Chr19:18895126 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1863T>C (p.Tyr621=) |
single nucleotide variant |
not provided [RCV002722128] |
Chr19:18784947 [GRCh38]
Chr19:18895757 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.780C>G (p.Ala260=) |
single nucleotide variant |
not provided [RCV002721811] |
Chr19:18788497 [GRCh38]
Chr19:18899306 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1552G>A (p.Asp518Asn) |
single nucleotide variant |
not provided [RCV003050532] |
Chr19:18785789 [GRCh38]
Chr19:18896599 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.201G>A (p.Met67Ile) |
single nucleotide variant |
not provided [RCV002582424] |
Chr19:18790578 [GRCh38]
Chr19:18901387 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.218-9C>T |
single nucleotide variant |
not provided [RCV002721489] |
Chr19:18790123 [GRCh38]
Chr19:18900932 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1952G>A (p.Arg651Gln) |
single nucleotide variant |
not provided [RCV002608754] |
Chr19:18784326 [GRCh38]
Chr19:18895136 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.356C>T (p.Thr119Met) |
single nucleotide variant |
not provided [RCV002608812] |
Chr19:18789976 [GRCh38]
Chr19:18900785 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2212C>T (p.Arg738Cys) |
single nucleotide variant |
not provided [RCV002586302] |
Chr19:18783069 [GRCh38]
Chr19:18893879 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1893C>T (p.Ala631=) |
single nucleotide variant |
not provided [RCV002586675] |
Chr19:18784917 [GRCh38]
Chr19:18895727 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.112C>T (p.Leu38=) |
single nucleotide variant |
not provided [RCV002589204] |
Chr19:18790903 [GRCh38]
Chr19:18901712 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1423G>A (p.Asp475Asn) |
single nucleotide variant |
not provided [RCV003050533] |
Chr19:18786031 [GRCh38]
Chr19:18896841 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.868G>A (p.Asp290Asn) |
single nucleotide variant |
not provided [RCV003050534] |
Chr19:18788319 [GRCh38]
Chr19:18899128 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1850T>C (p.Met617Thr) |
single nucleotide variant |
not provided [RCV002610311] |
Chr19:18784960 [GRCh38]
Chr19:18895770 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.452G>A (p.Cys151Tyr) |
single nucleotide variant |
not provided [RCV003145856] |
Chr19:18789236 [GRCh38]
Chr19:18900045 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1888G>A (p.Val630Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003214682] |
Chr19:18784922 [GRCh38]
Chr19:18895732 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1527_1529del (p.Asp509_Ala510delinsGlu) |
deletion |
not provided [RCV003222977] |
Chr19:18785812..18785814 [GRCh38]
Chr19:18896622..18896624 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.983G>A (p.Cys328Tyr) |
single nucleotide variant |
not provided [RCV003145857] |
Chr19:18787643 [GRCh38]
Chr19:18898452 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1285_1286dup (p.Cys430fs) |
duplication |
Multiple epiphyseal dysplasia type 1 [RCV003142306] |
Chr19:18786259..18786260 [GRCh38]
Chr19:18897069..18897070 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1097G>A (p.Gly366Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003208868] |
Chr19:18787529 [GRCh38]
Chr19:18898338 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.644G>A (p.Gly215Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003200709]|not provided [RCV003779720] |
Chr19:18788710 [GRCh38]
Chr19:18899519 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1280G>C (p.Gly427Ala) |
single nucleotide variant |
not provided [RCV003325689] |
Chr19:18786266 [GRCh38]
Chr19:18897076 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.414C>G (p.Pro138=) |
single nucleotide variant |
not provided [RCV003569791] |
Chr19:18789274 [GRCh38]
Chr19:18900083 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1069_1070delinsTT (p.Asp357Phe) |
indel |
not provided [RCV003543695] |
Chr19:18787556..18787557 [GRCh38]
Chr19:18898365..18898366 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1723A>T (p.Thr575Ser) |
single nucleotide variant |
not provided [RCV003571406] |
Chr19:18785087 [GRCh38]
Chr19:18895897 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1014C>T (p.Asn338=) |
single nucleotide variant |
not provided [RCV003873256] |
Chr19:18787612 [GRCh38]
Chr19:18898421 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.950A>G (p.Asp317Gly) |
single nucleotide variant |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV003480544]|not provided [RCV003553996] |
Chr19:18788237 [GRCh38]
Chr19:18899046 [GRCh37]
Chr19:19p13.11 |
likely pathogenic|uncertain significance |
| NM_000095.3(COMP):c.75G>T (p.Pro25=) |
single nucleotide variant |
not provided [RCV003570685] |
Chr19:18791195 [GRCh38]
Chr19:18902004 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2230A>T (p.Thr744Ser) |
single nucleotide variant |
not provided [RCV003874711]|not specified [RCV004587579] |
Chr19:18782959 [GRCh38]
Chr19:18893769 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.948C>T (p.Ala316=) |
single nucleotide variant |
not provided [RCV003874719] |
Chr19:18788239 [GRCh38]
Chr19:18899048 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.529-5C>T |
single nucleotide variant |
not provided [RCV003875213] |
Chr19:18788918 [GRCh38]
Chr19:18899727 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1317C>A (p.Asp439Glu) |
single nucleotide variant |
COMP-related disorder [RCV003404620] |
Chr19:18786137 [GRCh38]
Chr19:18896947 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1967A>G (p.His656Arg) |
single nucleotide variant |
not provided [RCV003691342] |
Chr19:18784311 [GRCh38]
Chr19:18895121 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1718-4C>T |
single nucleotide variant |
not provided [RCV003423459] |
Chr19:18785096 [GRCh38]
Chr19:18895906 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1384G>T (p.Asp462Tyr) |
single nucleotide variant |
COMP-related disorder [RCV003397724] |
Chr19:18786070 [GRCh38]
Chr19:18896880 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1124T>C (p.Ile375Thr) |
single nucleotide variant |
not provided [RCV003415155] |
Chr19:18787502 [GRCh38]
Chr19:18898311 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.403C>T (p.Pro135Ser) |
single nucleotide variant |
not provided [RCV003827772] |
Chr19:18789285 [GRCh38]
Chr19:18900094 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.192C>T (p.Asn64=) |
single nucleotide variant |
not provided [RCV003694216] |
Chr19:18790587 [GRCh38]
Chr19:18901396 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1590C>T (p.Asp530=) |
single nucleotide variant |
not provided [RCV003576392] |
Chr19:18785751 [GRCh38]
Chr19:18896561 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.975+13C>A |
single nucleotide variant |
not provided [RCV003881889] |
Chr19:18788199 [GRCh38]
Chr19:18899008 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1310A>T (p.Asp437Val) |
single nucleotide variant |
not provided [RCV003686945] |
Chr19:18786144 [GRCh38]
Chr19:18896954 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.258G>A (p.Arg86=) |
single nucleotide variant |
not provided [RCV003716686] |
Chr19:18790074 [GRCh38]
Chr19:18900883 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1123_1134del (p.Ile375_Asp378del) |
deletion |
not provided [RCV003690084] |
Chr19:18787492..18787503 [GRCh38]
Chr19:18898301..18898312 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1135+20G>T |
single nucleotide variant |
not provided [RCV003830308] |
Chr19:18787471 [GRCh38]
Chr19:18898280 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1436A>T (p.Asp479Val) |
single nucleotide variant |
not provided [RCV003578208] |
Chr19:18786018 [GRCh38]
Chr19:18896828 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.805G>C (p.Asp269His) |
single nucleotide variant |
not provided [RCV003715959] |
Chr19:18788472 [GRCh38]
Chr19:18899281 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1153G>C (p.Asp385His) |
single nucleotide variant |
not provided [RCV003546353] |
Chr19:18786633 [GRCh38]
Chr19:18897443 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1982_1983del (p.Glu661fs) |
microsatellite |
not provided [RCV003882503] |
Chr19:18784295..18784296 [GRCh38]
Chr19:18895105..18895106 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1982A>G (p.Glu661Gly) |
single nucleotide variant |
not provided [RCV003713600] |
Chr19:18784296 [GRCh38]
Chr19:18895106 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.257G>A (p.Arg86Gln) |
single nucleotide variant |
not provided [RCV003690399] |
Chr19:18790075 [GRCh38]
Chr19:18900884 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2048G>T (p.Arg683Leu) |
single nucleotide variant |
not specified [RCV003494232] |
Chr19:18784230 [GRCh38]
Chr19:18895040 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1914G>C (p.Lys638Asn) |
single nucleotide variant |
not provided [RCV003574592] |
Chr19:18784896 [GRCh38]
Chr19:18895706 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1929C>T (p.Ser643=) |
single nucleotide variant |
not provided [RCV003716597] |
Chr19:18784349 [GRCh38]
Chr19:18895159 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.238A>G (p.Thr80Ala) |
single nucleotide variant |
not provided [RCV003544877] |
Chr19:18790094 [GRCh38]
Chr19:18900903 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.114G>T (p.Leu38=) |
single nucleotide variant |
not provided [RCV003575445] |
Chr19:18790901 [GRCh38]
Chr19:18901710 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1254+19C>T |
single nucleotide variant |
not provided [RCV003881797] |
Chr19:18786513 [GRCh38]
Chr19:18897323 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1877C>T (p.Pro626Leu) |
single nucleotide variant |
not provided [RCV003715474] |
Chr19:18784933 [GRCh38]
Chr19:18895743 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1718-18C>G |
single nucleotide variant |
not provided [RCV003850171] |
Chr19:18785110 [GRCh38]
Chr19:18895920 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.391-3C>T |
single nucleotide variant |
not provided [RCV003664363] |
Chr19:18789300 [GRCh38]
Chr19:18900109 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.180G>T (p.Thr60=) |
single nucleotide variant |
not provided [RCV003699806] |
Chr19:18790599 [GRCh38]
Chr19:18901408 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.261C>T (p.Pro87=) |
single nucleotide variant |
not provided [RCV003664459] |
Chr19:18790071 [GRCh38]
Chr19:18900880 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1373A>G (p.Asp458Gly) |
single nucleotide variant |
not provided [RCV003550146] |
Chr19:18786081 [GRCh38]
Chr19:18896891 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.79+19C>T |
single nucleotide variant |
not provided [RCV003697404] |
Chr19:18791172 [GRCh38]
Chr19:18901981 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.594C>T (p.Ile198=) |
single nucleotide variant |
not provided [RCV003559612] |
Chr19:18788848 [GRCh38]
Chr19:18899657 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.603+14G>A |
single nucleotide variant |
not provided [RCV003811257] |
Chr19:18788825 [GRCh38]
Chr19:18899634 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.686G>A (p.Cys229Tyr) |
single nucleotide variant |
COMP-related disorder [RCV003909125]|not provided [RCV003726801] |
Chr19:18788668 [GRCh38]
Chr19:18899477 [GRCh37]
Chr19:19p13.11 |
benign|likely benign |
| NM_000095.3(COMP):c.886C>G (p.Pro296Ala) |
single nucleotide variant |
not provided [RCV003831964] |
Chr19:18788301 [GRCh38]
Chr19:18899110 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2264G>A (p.Arg755Gln) |
single nucleotide variant |
not provided [RCV003856765] |
Chr19:18782925 [GRCh38]
Chr19:18893735 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1420_1425dup (p.Asp475_Gly476insAsnAsp) |
duplication |
not provided [RCV003560100] |
Chr19:18786028..18786029 [GRCh38]
Chr19:18896838..18896839 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1141C>G (p.Arg381Gly) |
single nucleotide variant |
not provided [RCV003726182] |
Chr19:18786645 [GRCh38]
Chr19:18897455 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1413C>T (p.Asp471=) |
single nucleotide variant |
not provided [RCV003561612] |
Chr19:18786041 [GRCh38]
Chr19:18896851 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1854G>C (p.Glu618Asp) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV004006237] |
Chr19:18784956 [GRCh38]
Chr19:18895766 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.341G>C (p.Cys114Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004437769] |
Chr19:18789991 [GRCh38]
Chr19:18900800 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.679C>A (p.Arg227Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004437771] |
Chr19:18788675 [GRCh38]
Chr19:18899484 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1476GGA[1] (p.Glu493del) |
microsatellite |
not provided [RCV003856042] |
Chr19:18785973..18785975 [GRCh38]
Chr19:18896783..18896785 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.867+20G>C |
single nucleotide variant |
not provided [RCV003813920] |
Chr19:18788390 [GRCh38]
Chr19:18899199 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.165+17C>T |
single nucleotide variant |
not provided [RCV003815903] |
Chr19:18790833 [GRCh38]
Chr19:18901642 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.142G>A (p.Val48Met) |
single nucleotide variant |
not provided [RCV003838831] |
Chr19:18790873 [GRCh38]
Chr19:18901682 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.374G>A (p.Cys125Tyr) |
single nucleotide variant |
not provided [RCV003669889] |
Chr19:18789958 [GRCh38]
Chr19:18900767 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1220G>A (p.Cys407Tyr) |
single nucleotide variant |
not provided [RCV003560101] |
Chr19:18786566 [GRCh38]
Chr19:18897376 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1760A>T (p.His587Leu) |
single nucleotide variant |
not provided [RCV003557912] |
Chr19:18785050 [GRCh38]
Chr19:18895860 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.827C>G (p.Pro276Arg) |
single nucleotide variant |
not provided [RCV003560103] |
Chr19:18788450 [GRCh38]
Chr19:18899259 [GRCh37]
Chr19:19p13.11 |
pathogenic|likely pathogenic |
| NM_000095.3(COMP):c.537G>A (p.Thr179=) |
single nucleotide variant |
not provided [RCV003855310] |
Chr19:18788905 [GRCh38]
Chr19:18899714 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1308-18C>T |
single nucleotide variant |
not provided [RCV003814421] |
Chr19:18786164 [GRCh38]
Chr19:18896974 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1136-17C>T |
single nucleotide variant |
not provided [RCV003697570] |
Chr19:18786667 [GRCh38]
Chr19:18897477 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1989G>C (p.Gln663His) |
single nucleotide variant |
not provided [RCV003725535] |
Chr19:18784289 [GRCh38]
Chr19:18895099 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1731C>T (p.Phe577=) |
single nucleotide variant |
not provided [RCV003840253] |
Chr19:18785079 [GRCh38]
Chr19:18895889 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1951C>T (p.Arg651Trp) |
single nucleotide variant |
not provided [RCV003671537] |
Chr19:18784327 [GRCh38]
Chr19:18895137 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.80-5C>T |
single nucleotide variant |
not provided [RCV003671622] |
Chr19:18790940 [GRCh38]
Chr19:18901749 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.731T>C (p.Val244Ala) |
single nucleotide variant |
not provided [RCV003549453] |
Chr19:18788623 [GRCh38]
Chr19:18899432 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2048G>C (p.Arg683Pro) |
single nucleotide variant |
not provided [RCV003672294] |
Chr19:18784230 [GRCh38]
Chr19:18895040 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.739C>A (p.Arg247Ser) |
single nucleotide variant |
not provided [RCV003816603] |
Chr19:18788615 [GRCh38]
Chr19:18899424 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1470C>G (p.Pro490=) |
single nucleotide variant |
not provided [RCV003724886] |
Chr19:18785984 [GRCh38]
Chr19:18896794 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2073A>G (p.Gln691=) |
single nucleotide variant |
not provided [RCV003701924] |
Chr19:18784205 [GRCh38]
Chr19:18895015 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1544A>G (p.Asp515Gly) |
single nucleotide variant |
not provided [RCV003560098] |
Chr19:18785797 [GRCh38]
Chr19:18896607 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.2130C>T (p.Asn710=) |
single nucleotide variant |
not provided [RCV003837846] |
Chr19:18783151 [GRCh38]
Chr19:18893961 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1519G>A (p.Asp507Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004614467]|not provided [RCV003560099] |
Chr19:18785822 [GRCh38]
Chr19:18896632 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.495C>T (p.Gly165=) |
single nucleotide variant |
not provided [RCV003811514] |
Chr19:18789193 [GRCh38]
Chr19:18900002 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2019C>T (p.Asn673=) |
single nucleotide variant |
not provided [RCV003816275] |
Chr19:18784259 [GRCh38]
Chr19:18895069 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.848C>G (p.Pro283Arg) |
single nucleotide variant |
not provided [RCV003668724] |
Chr19:18788429 [GRCh38]
Chr19:18899238 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1100G>A (p.Arg367Gln) |
single nucleotide variant |
not provided [RCV003702227] |
Chr19:18787526 [GRCh38]
Chr19:18898335 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1489+8G>A |
single nucleotide variant |
not provided [RCV003841343] |
Chr19:18785957 [GRCh38]
Chr19:18896767 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1149G>A (p.Gln383=) |
single nucleotide variant |
not provided [RCV003819023] |
Chr19:18786637 [GRCh38]
Chr19:18897447 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.688C>T (p.Pro230Ser) |
single nucleotide variant |
not provided [RCV003710978] |
Chr19:18788666 [GRCh38]
Chr19:18899475 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1632C>G (p.Asp544Glu) |
single nucleotide variant |
not provided [RCV003857740] |
Chr19:18785709 [GRCh38]
Chr19:18896519 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1127A>G (p.Asp376Gly) |
single nucleotide variant |
not provided [RCV003704271] |
Chr19:18787499 [GRCh38]
Chr19:18898308 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1031G>C (p.Trp344Ser) |
single nucleotide variant |
not provided [RCV003708243] |
Chr19:18787595 [GRCh38]
Chr19:18898404 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1142G>A (p.Arg381His) |
single nucleotide variant |
not provided [RCV003734958] |
Chr19:18786644 [GRCh38]
Chr19:18897454 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1402T>C (p.Cys468Arg) |
single nucleotide variant |
not provided [RCV003704673] |
Chr19:18786052 [GRCh38]
Chr19:18896862 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1384G>A (p.Asp462Asn) |
single nucleotide variant |
not provided [RCV003822304] |
Chr19:18786070 [GRCh38]
Chr19:18896880 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2228-12C>T |
single nucleotide variant |
not provided [RCV003682566] |
Chr19:18782973 [GRCh38]
Chr19:18893783 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1668+20G>C |
single nucleotide variant |
not provided [RCV003867109] |
Chr19:18785653 [GRCh38]
Chr19:18896463 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.339C>G (p.Pro113=) |
single nucleotide variant |
not provided [RCV003870515] |
Chr19:18789993 [GRCh38]
Chr19:18900802 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.474C>T (p.Tyr158=) |
single nucleotide variant |
not provided [RCV003674533] |
Chr19:18789214 [GRCh38]
Chr19:18900023 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1649A>G (p.Asn550Ser) |
single nucleotide variant |
not provided [RCV003684234] |
Chr19:18785692 [GRCh38]
Chr19:18896502 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1363G>A (p.Ala455Thr) |
single nucleotide variant |
not provided [RCV003867426] |
Chr19:18786091 [GRCh38]
Chr19:18896901 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1939G>A (p.Gly647Arg) |
single nucleotide variant |
not provided [RCV003818339] |
Chr19:18784339 [GRCh38]
Chr19:18895149 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.218-4G>T |
single nucleotide variant |
not provided [RCV003847677]|not specified [RCV004690489] |
Chr19:18790118 [GRCh38]
Chr19:18900927 [GRCh37]
Chr19:19p13.11 |
likely benign|uncertain significance |
| NM_000095.3(COMP):c.831C>G (p.Asp277Glu) |
single nucleotide variant |
not provided [RCV003841052] |
Chr19:18788446 [GRCh38]
Chr19:18899255 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.132G>A (p.Ala44=) |
single nucleotide variant |
not provided [RCV003719923] |
Chr19:18790883 [GRCh38]
Chr19:18901692 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1104C>T (p.Gly368=) |
single nucleotide variant |
not provided [RCV003823498] |
Chr19:18787522 [GRCh38]
Chr19:18898331 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1254G>T (p.Gln418His) |
single nucleotide variant |
not provided [RCV003720501] |
Chr19:18786532 [GRCh38]
Chr19:18897342 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1451G>T (p.Cys484Phe) |
single nucleotide variant |
not provided [RCV003718978] |
Chr19:18786003 [GRCh38]
Chr19:18896813 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.769G>A (p.Val257Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004614563]|not provided [RCV003867244] |
Chr19:18788508 [GRCh38]
Chr19:18899317 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.529-27_529-4del |
deletion |
not provided [RCV003867346] |
Chr19:18788917..18788940 [GRCh38]
Chr19:18899726..18899749 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1256C>T (p.Ala419Val) |
single nucleotide variant |
not provided [RCV003711930] |
Chr19:18786290 [GRCh38]
Chr19:18897100 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1167G>T (p.Arg389Ser) |
single nucleotide variant |
not provided [RCV003721420] |
Chr19:18786619 [GRCh38]
Chr19:18897429 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1491G>A (p.Arg497=) |
single nucleotide variant |
not provided [RCV003870008] |
Chr19:18785850 [GRCh38]
Chr19:18896660 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1055G>A (p.Arg352Gln) |
single nucleotide variant |
not provided [RCV003821355] |
Chr19:18787571 [GRCh38]
Chr19:18898380 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1065G>A (p.Lys355=) |
single nucleotide variant |
not provided [RCV003823502] |
Chr19:18787561 [GRCh38]
Chr19:18898370 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.315G>A (p.Thr105=) |
single nucleotide variant |
not provided [RCV003684577] |
Chr19:18790017 [GRCh38]
Chr19:18900826 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1828dup (p.Tyr610fs) |
duplication |
not provided [RCV003711810] |
Chr19:18784981..18784982 [GRCh38]
Chr19:18895791..18895792 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1342T>G (p.Cys448Gly) |
single nucleotide variant |
not provided [RCV003567706] |
Chr19:18786112 [GRCh38]
Chr19:18896922 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.842G>A (p.Arg281His) |
single nucleotide variant |
not provided [RCV003542692] |
Chr19:18788435 [GRCh38]
Chr19:18899244 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1211G>A (p.Gly404Glu) |
single nucleotide variant |
not provided [RCV003550412] |
Chr19:18786575 [GRCh38]
Chr19:18897385 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2047C>G (p.Arg683Gly) |
single nucleotide variant |
not provided [RCV003861032] |
Chr19:18784231 [GRCh38]
Chr19:18895041 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.832G>C (p.Glu278Gln) |
single nucleotide variant |
not provided [RCV003729771] |
Chr19:18788445 [GRCh38]
Chr19:18899254 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.867+13G>A |
single nucleotide variant |
not provided [RCV003727413] |
Chr19:18788397 [GRCh38]
Chr19:18899206 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.2227+7C>T |
single nucleotide variant |
not provided [RCV003727372] |
Chr19:18783047 [GRCh38]
Chr19:18893857 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.654G>T (p.Ala218=) |
single nucleotide variant |
not provided [RCV003820323] |
Chr19:18788700 [GRCh38]
Chr19:18899509 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1560_1573del (p.Cys520_Glu525delinsTer) |
deletion |
not provided [RCV003562908] |
Chr19:18785768..18785781 [GRCh38]
Chr19:18896578..18896591 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1775C>T (p.Thr592Met) |
single nucleotide variant |
not provided [RCV003718607] |
Chr19:18785035 [GRCh38]
Chr19:18895845 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1072G>C (p.Asp358His) |
single nucleotide variant |
Inborn genetic diseases [RCV004437761] |
Chr19:18787554 [GRCh38]
Chr19:18898363 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1142G>T (p.Arg381Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004437762] |
Chr19:18786644 [GRCh38]
Chr19:18897454 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1586C>A (p.Thr529Asn) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV003990350] |
Chr19:18785755 [GRCh38]
Chr19:18896565 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.1619A>T (p.Asp540Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004437766] |
Chr19:18785722 [GRCh38]
Chr19:18896532 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1771G>A (p.Val591Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004437768] |
Chr19:18785039 [GRCh38]
Chr19:18895849 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1587C>T (p.Thr529=) |
single nucleotide variant |
COMP-related disorder [RCV003924154] |
Chr19:18785754 [GRCh38]
Chr19:18896564 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1303G>C (p.Asp435His) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV004006238] |
Chr19:18786243 [GRCh38]
Chr19:18897053 [GRCh37]
Chr19:19p13.11 |
likely pathogenic |
| NM_000095.3(COMP):c.964C>T (p.Pro322Ser) |
single nucleotide variant |
COMP-related disorder [RCV003914528] |
Chr19:18788223 [GRCh38]
Chr19:18899032 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1411G>C (p.Asp471His) |
single nucleotide variant |
COMP-related disorder [RCV003894158] |
Chr19:18786043 [GRCh38]
Chr19:18896853 [GRCh37]
Chr19:19p13.11 |
likely pathogenic|uncertain significance |
| NM_000095.3(COMP):c.1334G>C (p.Arg445Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004437764] |
Chr19:18786120 [GRCh38]
Chr19:18896930 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1555G>A (p.Val519Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004437765] |
Chr19:18785786 [GRCh38]
Chr19:18896596 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.412C>T (p.Pro138Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004437770] |
Chr19:18789276 [GRCh38]
Chr19:18900085 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1246C>T (p.Pro416Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004437763] |
Chr19:18786540 [GRCh38]
Chr19:18897350 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.2151G>T (p.Met717Ile) |
single nucleotide variant |
COMP-related disorder [RCV004755531] |
Chr19:18783130 [GRCh38]
Chr19:18893940 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1359del (p.Asn453fs) |
deletion |
Multiple epiphyseal dysplasia type 1 [RCV004720412] |
Chr19:18786095 [GRCh38]
Chr19:18896905 [GRCh37]
Chr19:19p13.11 |
pathogenic |
| NM_000095.3(COMP):c.1213G>A (p.Asp405Asn) |
single nucleotide variant |
Multiple epiphyseal dysplasia type 1 [RCV003991346] |
Chr19:18786573 [GRCh38]
Chr19:18897383 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.1490-1G>C |
single nucleotide variant |
not provided [RCV004768351] |
Chr19:18785852 [GRCh38]
Chr19:18896662 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.517del (p.Ala173fs) |
deletion |
not provided [RCV004772212] |
Chr19:18789171 [GRCh38]
Chr19:18899980 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
| NM_000095.3(COMP):c.48C>T (p.Leu16=) |
single nucleotide variant |
COMP-related disorder [RCV004755268] |
Chr19:18791222 [GRCh38]
Chr19:18902031 [GRCh37]
Chr19:19p13.11 |
likely benign |
| NM_000095.3(COMP):c.1820C>G (p.Ser607Cys) |
single nucleotide variant |
COMP-related disorder [RCV004732231] |
Chr19:18784990 [GRCh38]
Chr19:18895800 [GRCh37]
Chr19:19p13.11 |
uncertain significance |
