Total 68 pathogenic variants reported for Spondyloepiphyseal dysplasia with congenital joint dislocations 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) SNV
Germline		 Chr10:72007942 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations No Assertion Criteria Provided
 CA253724 rs_28937593

2 SubmittersRCV000006412
NM_004273.5(CHST3):c.776T>C (p.Leu259Pro) SNV
Germline		 Chr10:72007807 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA253725 rs_121908616

2 SubmittersRCV000006413
NM_004273.5(CHST3):c.1114G>A (p.Glu372Lys) SNV
Germline		 Chr10:72008145 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations No Assertion Criteria Provided
 CA253726 rs_267606734

1 SubmittersRCV000006414
NM_004273.5(CHST3):c.664C>T (p.Arg222Trp) SNV
Germline		 Chr10:72007695 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations No Assertion Criteria Provided
 CA253727 rs_121908617

1 SubmittersRCV000006415
NM_004273.5(CHST3):c.920T>C (p.Leu307Pro) SNV
Germline		 Chr10:72007951 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations No Assertion Criteria Provided
 CA253728 rs_121908618

1 SubmittersRCV000006416
NM_004273.5(CHST3):c.603C>A (p.Tyr201Ter) SNV
Germline		 Chr10:72007634 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations No Assertion Criteria Provided
 CA253729 rs_121908619

1 SubmittersRCV000006418
NM_004273.5(CHST3):c.857T>C (p.Leu286Pro) SNV
Germline		 Chr10:72007888 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations No Assertion Criteria Provided
 CA253731 rs_121908620

1 SubmittersRCV000006419
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) SNV
Germline		 Chr10:72007506 Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253735 rs_145538723

3 SubmittersRCV000006421RCV001596932
NM_004273.5(CHST3):c.481C>T (p.Leu161Phe) SNV
Germline		 Chr10:72007512 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations No Assertion Criteria Provided
 CA253737 rs_267606733

1 SubmittersRCV000006422
NM_004273.5(CHST3):c.988C>T (p.Gln330Ter) SNV
Germline		 Chr10:72008019 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations No Assertion Criteria Provided
 CA253739 rs_267606732

1 SubmittersRCV000006423
NM_004273.5(CHST3):c.1063G>A (p.Gly355Arg) SNV
Germline		 Chr10:72008094 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations No Assertion Criteria Provided
 CA10576051 rs_747171013

1 SubmittersRCV000210956
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) SNV
Germline		 Chr10:72008034 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5548196 rs_150466838

3 SubmittersRCV000327919RCV001564255RCV002520628
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) SNV
Germline		 Chr10:72007379 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5548068 rs_144885813

2 SubmittersRCV000301857RCV004021480
NM_004273.5(CHST3):c.518C>T (p.Ser173Phe) SNV
Germline		 Chr10:72007549 Conflicting classifications of pathogenicity Condition: not provided
Spondyloepiphyseal dysplasia with congenital joint dislocations		 Criteria Provided
Conflicting Classifications
 CA5548110 rs_751961615

2 SubmittersRCV000514565RCV001857872
NM_004273.5(CHST3):c.904G>C (p.Asp302His) SNV
Germline		 Chr10:72007935 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377147897 rs_1316347883

1 SubmittersRCV000550153
NM_004273.5(CHST3):c.491C>T (p.Pro164Leu) SNV
Germline		 Chr10:72007522 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377144138 rs_771866012

1 SubmittersRCV000528005
NM_004273.5(CHST3):c.1312C>T (p.Gln438Ter) SNV
Germline		 Chr10:72008343 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377152551 rs_1416783446

2 SubmittersRCV000626195
NM_004273.5(CHST3):c.1135C>T (p.Leu379=) SNV
Germline		 Chr10:72008166 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Conflicting Classifications
 CA5548207 rs_564028722

2 SubmittersRCV000887580
NM_004273.5(CHST3):c.423G>A (p.Thr141=) SNV
Germline		 Chr10:72007454 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3-related disorder		 Criteria Provided
Conflicting Classifications
 CA5548092 rs_376107245

3 SubmittersRCV001105846RCV003913086
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser) SNV
Germline		 Chr10:72007534 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377144212 rs_1589509307

2 SubmittersRCV001028033
NM_004273.5(CHST3):c.195C>T (p.Thr65=) SNV
Germline		 Chr10:72007226 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Conflicting Classifications
 CA5548039 rs_759935618

2 SubmittersRCV001105845
NM_004273.5(CHST3):c.540C>T (p.Asn180=) SNV
Germline		 Chr10:72007571 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Conflicting Classifications
 CA5548120 rs_748812857

2 SubmittersRCV001108082
NM_004273.5(CHST3):c.1044C>G (p.Ile348Met) SNV
Germline		 Chr10:72008075 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations
not specified		 Criteria Provided
Conflicting Classifications
 CA5548199 rs_3740128

3 SubmittersRCV001108083RCV003490076
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) SNV
Germline		 Chr10:72008411 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5548244 rs_369055984

4 SubmittersRCV001102870RCV003938446RCV006650650
NM_004273.5(CHST3):c.688G>T (p.Glu230Ter) SNV
Germline		 Chr10:72007719 Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377145893 rs_774599785

2 SubmittersRCV001213781RCV001597255
NM_004273.5(CHST3):c.334G>T (p.Glu112Ter) SNV
Germline		 Chr10:72007365 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377143415 rs_751470049

1 SubmittersRCV001342483
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys) SNV
Germline		 Chr10:72007719 Conflicting classifications of pathogenicity Condition: not provided
Spondyloepiphyseal dysplasia with congenital joint dislocations		 Criteria Provided
Conflicting Classifications
 CA5548147 rs_774599785

3 SubmittersRCV001772472RCV002227541
NM_004273.5(CHST3):c.1165G>C (p.Ala389Pro) SNV
Germline		 Chr10:72008196 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377151486 rs_1003539672

1 SubmittersRCV001806424
NM_004273.5(CHST3):c.757G>A (p.Gly253Ser) SNV
Germline		 Chr10:72007788 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA5548159 rs_200988207

1 SubmittersRCV001889907
NM_004273.5(CHST3):c.430G>A (p.Gly144Ser) SNV
Germline		 Chr10:72007461 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Conflicting Classifications
 CA377143763 rs_1360950889

2 SubmittersRCV002002649
NM_004273.5(CHST3):c.271C>T (p.Gln91Ter) SNV
Germline		 Chr10:72007302 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA5548050 rs_756133268

1 SubmittersRCV001985149
NM_004273.5(CHST3):c.500A>G (p.His167Arg) SNV
Germline		 Chr10:72007531 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377144190 rs_2131774841

1 SubmittersRCV002227900
NM_004273.5(CHST3):c.768C>G (p.Asn256Lys) SNV
Germline		 Chr10:72007799 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377146609 rs_1416637363

1 SubmittersRCV002227910
NM_004273.5(CHST3):c.141-1G>C SNV
Germline		 Chr10:72007171 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377141802 rs_2131773933

1 SubmittersRCV002249362
NM_004273.5(CHST3):c.424C>T (p.Arg142Cys) SNV
Germline		 Chr10:72007455 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377143747 rs_1378815381

1 SubmittersRCV002272806
NM_004273.5(CHST3):c.1332C>G (p.Cys444Trp) SNV
Germline		 Chr10:72008363 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377152767 rs_1216480002

1 SubmittersRCV002274275
NM_004273.5(CHST3):c.661C>T (p.Arg221Cys) SNV
Germline		 Chr10:72007692 Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5548142 rs_746848315

3 SubmittersRCV003062276RCV003234217
NM_004273.5(CHST3):c.83T>A (p.Leu28Ter) SNV
Germline		 Chr10:72005925 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377140764 rs_2494763949

1 SubmittersRCV003002771
NM_004273.5(CHST3):c.431G>A (p.Gly144Asp) SNV
Germline		 Chr10:72007462 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA209479084 rs_865931042

1 SubmittersRCV003111526
NM_004273.5(CHST3):c.857T>A (p.Leu286Gln) SNV
Germline		 Chr10:72007888 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377147343 rs_121908620

1 SubmittersRCV003983771
NM_004273.5(CHST3):c.911G>C (p.Arg304Pro) SNV
Germline		 Chr10:72007942 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter
 CA377147959 rs_28937593

1 SubmittersRCV003990081
NM_004273.5(CHST3):c.718A>T (p.Lys240Ter) SNV
Germline		 Chr10:72007749 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter

1 SubmittersRCV005200808
NM_004273.5(CHST3):c.1114G>T (p.Glu372Ter) SNV
Germline		 Chr10:72008145 Likely pathogenic Larsen-like syndrome, B3GAT3 type
Spondyloepiphyseal dysplasia with congenital joint dislocations		 Criteria Provided
Single Submitter

1 SubmittersRCV005360366
NM_004273.5(CHST3):c.1358A>G (p.Tyr453Cys) SNV
Germline		 Chr10:72008389 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations No Assertion Criteria Provided

1 SubmittersRCV005629724
NM_004273.5(CHST3):c.400C>T (p.His134Tyr) SNV
Germline		 Chr10:72007431 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter

1 SubmittersRCV005630230
NC_012920.1(MT-TV):m.1621A>C SNV
Germline		 ChrMT:1621 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter

1 SubmittersRCV005861967
NM_004273.5(CHST3):c.862G>T (p.Glu288Ter) SNV
Germline		 Chr10:72007893 Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter

1 SubmittersRCV005884503
NM_004273.5(CHST3):c.802G>T (p.Glu268Ter) SNV
Germline		 Chr10:72007833 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations Criteria Provided
Single Submitter

1 SubmittersRCV006504998