Total 57 pathogenic variants reported for Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000095.3(COMP):c.1414G>T (p.Asp472Tyr) SNV
Germline		 Chr19:18786040 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome No Assertion Criteria Provided
 CA254700 rs_137852650

1 SubmittersRCV000009761
NM_000095.3(COMP):c.982T>C (p.Cys328Arg) SNV
Germline		 Chr19:18787644 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome No Assertion Criteria Provided
 CA254702 rs_137852653

1 SubmittersRCV000009766
NM_000095.3(COMP):c.1418A>G (p.Asp473Gly) SNV
Germline		 Chr19:18786036 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome No Assertion Criteria Provided
 CA120169 rs_28936669

1 SubmittersRCV000009769
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) SNV
Germline		 Chr19:18783125 Pathogenic/Likely pathogenic Pseudoachondroplasia, severe
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Condition: not provided
Multiple epiphyseal dysplasia type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120170 rs_137852655

4 SubmittersRCV000009772RCV000033890RCV002223755RCV003989283
NM_000095.3(COMP):c.1042T>C (p.Cys348Arg) SNV
Germline		 Chr19:18787584 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA254703 rs_137852656

2 SubmittersRCV000009773RCV003555993
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) SNV
Germline		 Chr19:18785056 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Carpal tunnel syndrome 2
Multiple epiphyseal dysplasia		 Criteria Provided
Single Submitter
 CA343860 rs_312262900

2 SubmittersRCV000033886RCV002496507RCV002054552
NM_000095.3(COMP):c.1754C>T (p.Thr585Met) SNV
Germline		 Chr19:18785056 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343861 rs_312262900

3 SubmittersRCV000033887RCV002054553RCV001388112
NM_000095.3(COMP):c.1760A>G (p.His587Arg) SNV
Germline		 Chr19:18785050 Pathogenic/Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343862 rs_312262901

3 SubmittersRCV000033888RCV000254993
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser) SNV
Germline		 Chr19:18783126 Pathogenic/Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343864 rs_312262904

3 SubmittersRCV000033889RCV001390635
NM_000095.3(COMP):c.763-6C>G SNV
Germline		 Chr19:18788520 Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10642487 rs_886054303

2 SubmittersRCV000291667RCV000346603RCV003765904
NM_000095.3(COMP):c.87C>T (p.Asp29=) SNV
Germline		 Chr19:18790928 Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9316835 rs_759794906

2 SubmittersRCV000272336RCV000366967RCV002523056
NM_000095.3(COMP):c.868-4C>T SNV
Germline		 Chr19:18788323 Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9316595 rs_529806631

3 SubmittersRCV000296158RCV000371849RCV000912964
NM_000095.3(COMP):c.1590C>A (p.Asp530Glu) SNV
Germline		 Chr19:18785751 Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1
Condition: not provided
COMP-related disorder		 Criteria Provided
Conflicting Classifications
 CA9316351 rs_759687021

3 SubmittersRCV000320583RCV000375163RCV002521199RCV003897750
NM_000095.3(COMP):c.867+11G>A SNV
Germline		 Chr19:18788399 Conflicting classifications of pathogenicity Condition: not provided
Multiple epiphyseal dysplasia type 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome		 Criteria Provided
Conflicting Classifications
 CA9316614 rs_776412620

2 SubmittersRCV002521200RCV000350020RCV000385885
NM_000095.3(COMP):c.218-7C>G SNV
Germline		 Chr19:18790121 Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
not specified
Condition: not provided
COMP-related disorder		 Criteria Provided
Conflicting Classifications
 CA9316788 rs_554031979

4 SubmittersRCV000287404RCV000342349RCV000508522RCV001521071RCV003957684
NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) SNV
Germline		 Chr19:18784299 Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9316214 rs_150534218

3 SubmittersRCV000312363RCV000394504RCV001850749RCV002521198
NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr) SNV
Germline		 Chr19:18787500 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1		 Criteria Provided
Single Submitter
 CA404887723 rs_1555791556

1 SubmittersRCV000505823
NM_000095.3(COMP):c.218-15C>A SNV
Germline		 Chr19:18790129 Conflicting classifications of pathogenicity Condition: not provided
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1		 Criteria Provided
Conflicting Classifications
 CA9316792 rs_542886784

3 SubmittersRCV000592194RCV001127818RCV001127817
NM_000095.3(COMP):c.1552G>C (p.Asp518His) SNV
Unknown		 Chr19:18785789 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_1359984033

1 SubmittersRCV000990188
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr) SNV
Germline		 Chr19:18786139 Pathogenic/Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_1601054002

2 SubmittersRCV000990189
NM_000095.3(COMP):c.950A>T (p.Asp317Val) SNV
Unknown		 Chr19:18788237 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_1601057057

1 SubmittersRCV000990190
NM_000095.3(COMP):c.818A>T (p.Asp273Val) SNV
Unknown		 Chr19:18788459 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_1601057491

1 SubmittersRCV000990191
NM_000095.3(COMP):c.1445A>T (p.Asp482Val) SNV
Germline		 Chr19:18786009 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_2055164276

1 SubmittersRCV001250922
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn) SNV
Germline		 Chr19:18786145 Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2055165476

3 SubmittersRCV001250923RCV002226751RCV001860606
NM_000095.3(COMP):c.1201G>C (p.Asp401His) SNV
Germline		 Chr19:18786585 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_2055169002

1 SubmittersRCV001250924
NM_000095.3(COMP):c.874T>C (p.Cys292Arg) SNV
Germline		 Chr19:18788313 Pathogenic/Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Condition: not provided
Multiple epiphyseal dysplasia type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2055184939

2 SubmittersRCV001250925RCV001383286RCV001805971
NM_000095.3(COMP):c.2213G>A (p.Arg738His) SNV
Germline		 Chr19:18783068 Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_766913050

2 SubmittersRCV001127555RCV001127556RCV001505858
NM_000095.3(COMP):c.1803T>C (p.Phe601=) SNV
Germline		 Chr19:18785007 Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_753120962

2 SubmittersRCV001124533RCV001124534RCV002556699
NM_000095.3(COMP):c.1200C>T (p.Gly400=) SNV
Germline		 Chr19:18786586 Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201063220

2 SubmittersRCV001125547RCV001127640RCV001856647
NM_000095.3(COMP):c.700C>T (p.Pro234Ser) SNV
Germline		 Chr19:18788654 Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_557483957

4 SubmittersRCV001124623RCV001124624RCV001300856RCV002249735
NM_000095.3(COMP):c.11A>C (p.Asp4Ala) SNV
Germline		 Chr19:18791259 Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Inborn genetic diseases
Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 rs_370458957

4 SubmittersRCV001122041RCV001122042RCV002558210RCV001856606RCV002276629
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) SNV
Germline		 Chr19:18786633 Pathogenic/Likely pathogenic Condition: not provided
Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia type 1
Carpal tunnel syndrome 2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1601054715

6 SubmittersRCV001269651RCV001810013RCV002069395RCV002504388
NM_000095.3(COMP):c.1210G>A (p.Gly404Arg) SNV
Unknown		 Chr19:18786576 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome No Assertion Criteria Provided
 rs_2055168912

1 SubmittersRCV001293718
NM_000095.3(COMP):c.811G>T (p.Asp271Tyr) SNV
Germline		 Chr19:18788466 Conflicting classifications of pathogenicity Condition: not provided
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome		 Criteria Provided
Conflicting Classifications
 rs_1131691835

2 SubmittersRCV001342121RCV002242312
NM_000095.3(COMP):c.1309G>T (p.Asp437Tyr) SNV
Germline		 Chr19:18786145 Conflicting classifications of pathogenicity Condition: not provided
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome		 Criteria Provided
Conflicting Classifications
 rs_2055165476

2 SubmittersRCV001364544RCV002242574
NM_000095.3(COMP):c.805G>A (p.Asp269Asn) SNV
Germline		 Chr19:18788472 Conflicting classifications of pathogenicity Condition: not provided
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome		 Criteria Provided
Conflicting Classifications
 rs_2145903436

3 SubmittersRCV001727082RCV003388609
NM_000095.3(COMP):c.925G>A (p.Gly309Arg) SNV
Germline		 Chr19:18788262 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2145903203

2 SubmittersRCV001806405RCV003560854
NM_000095.3(COMP):c.983G>T (p.Cys328Phe) SNV
Germline		 Chr19:18787643 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_2145902336

1 SubmittersRCV001806420
NM_000095.3(COMP):c.1394G>T (p.Gly465Val) SNV
Germline		 Chr19:18786060 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_2145900849

1 SubmittersRCV002227890
NM_000095.3(COMP):c.868G>T (p.Asp290Tyr) SNV
Germline		 Chr19:18788319 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome No Assertion Criteria Provided
 rs_2145903266

1 SubmittersRCV002227954
NM_000095.3(COMP):c.891C>A (p.Asn297Lys) SNV
Germline		 Chr19:18788296 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_2145903243

1 SubmittersRCV002238715
NM_000095.3(COMP):c.1051T>C (p.Cys351Arg) SNV
Germline		 Chr19:18787575 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_2145902239

1 SubmittersRCV002240139
NM_000095.3(COMP):c.1309G>C (p.Asp437His) SNV
Germline		 Chr19:18786145 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_2055165476

1 SubmittersRCV002240141
NM_000095.3(COMP):c.1521C>G (p.Asp507Glu) SNV
Germline		 Chr19:18785820 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter
 rs_2145900494

1 SubmittersRCV002238716
NM_000095.3(COMP):c.1545C>A (p.Asp515Glu) SNV
Germline		 Chr19:18785796 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306428
NM_000095.3(COMP):c.1045G>C (p.Asp349His) SNV
Germline		 Chr19:18787581 Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306432
NM_000095.3(COMP):c.1316A>G (p.Asp439Gly) SNV
Unknown		 Chr19:18786138 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003153166
NM_000095.3(COMP):c.1417G>C (p.Asp473His) SNV
Unknown		 Chr19:18786037 Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003234856
NM_000095.3(COMP):c.950A>G (p.Asp317Gly) SNV
Germline		 Chr19:18788237 Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003480544RCV003553996