Total 79 pathogenic variants reported for Camptomelic dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000346.4(SOX9):c.583C>T (p.Gln195Ter) SNV
Germline
Chr17:72122870 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
rs_1480235826

2 SubmittersRCV000002612

NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter) SNV
Germline
Chr17:72124177 Pathogenic Campomelic dysplasia with autosomal sex reversal
Camptomelic dysplasia
Condition: not provided
Connective tissue disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA115583 rs_80338688

5 SubmittersRCV000002617RCV000020283RCV000321802RCV002276527

NM_000346.4(SOX9):c.517A>G (p.Lys173Glu) SNV
Germline
Chr17:72122804 Pathogenic Acampomelic campomelic dysplasia
Camptomelic dysplasia
Criteria Provided
Single Submitter
CA115585 rs_104894647

2 SubmittersRCV000002618RCV003497831

NM_000346.4(SOX9):c.462C>G (p.Phe154Leu) SNV
Germline
Chr17:72122749 Pathogenic Camptomelic dysplasia No Assertion Criteria Provided
CA252319 rs_137853129

1 SubmittersRCV000002623

NM_000346.4(SOX9):c.472G>A (p.Ala158Thr) SNV
Germline
Chr17:72122759 Pathogenic Campomelic dysplasia with autosomal sex reversal
Camptomelic dysplasia
Criteria Provided
Single Submitter
CA115588 rs_137853130

2 SubmittersRCV000002624RCV001851587

NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter) SNV
Germline
Chr17:72124177 Pathogenic Camptomelic dysplasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA341683 rs_80338688

3 SubmittersRCV000020282RCV000310390

NM_000346.4(SOX9):c.507C>G (p.His169Gln) SNV
Germline
Chr17:72122794 Conflicting classifications of pathogenicity Camptomelic dysplasia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10581490 rs_2229989

7 SubmittersRCV000224991RCV000278794RCV001266335

NM_000346.4(SOX9):c.918G>A (p.Val306=) SNV
Germline
Chr17:72123775 Conflicting classifications of pathogenicity Condition: not provided
SOX9-related disorder
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications
CA8739048 rs_367966473

3 SubmittersRCV000392851RCV003957481RCV003603048

NM_000346.4(SOX9):c.531G>A (p.Arg177=) SNV
Germline
Chr17:72122818 Conflicting classifications of pathogenicity Condition: not provided
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications
CA8738936 rs_144824678

4 SubmittersRCV000402339RCV002059225

NM_000346.4(SOX9):c.1029G>A (p.Pro343=) SNV
Germline
Chr17:72123886 Conflicting classifications of pathogenicity Condition: not provided
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications
CA8739078 rs_747054712

2 SubmittersRCV000261952RCV001497894

NM_000346.4(SOX9):c.914G>C (p.Gly305Ala) SNV
Germline
Chr17:72123771 Conflicting classifications of pathogenicity Inborn genetic diseases
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications
rs_143697828

2 SubmittersRCV002592195RCV002592194

NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter) SNV
Germline
Chr17:72124037 Pathogenic Condition: not provided
Camptomelic dysplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA16043058 rs_1057518216

4 SubmittersRCV000414443RCV000559431

NM_000346.4(SOX9):c.1427T>C (p.Met476Thr) SNV
Germline
Chr17:72124284 Likely pathogenic Camptomelic dysplasia No Assertion Criteria Provided
CA16043696 rs_1057518669

1 SubmittersRCV000415154

NM_000346.4(SOX9):c.527C>G (p.Pro176Arg) SNV
Germline
Chr17:72122814 Likely pathogenic Condition: not provided
Camptomelic dysplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA400866496 rs_1555629170

2 SubmittersRCV000520332RCV001378337

NM_000346.4(SOX9):c.252C>G (p.Tyr84Ter) SNV
Germline
Chr17:72121643 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
CA400865857 rs_1555629022

1 SubmittersRCV000531068

NM_000346.4(SOX9):c.349C>T (p.Gln117Ter) SNV
Germline
Chr17:72121740 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
CA400866075 rs_1555629037

1 SubmittersRCV000543112

NM_000346.4(SOX9):c.515A>G (p.Tyr172Cys) SNV
Germline
Chr17:72122802 Likely pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
CA400866467 rs_1555629158

1 SubmittersRCV000578438

NM_000346.4(SOX9):c.1372C>T (p.Gln458Ter) SNV
Germline
Chr17:72124229 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
CA400868308 rs_1555629443

1 SubmittersRCV000578277

NM_000346.4(SOX9):c.1018C>T (p.Gln340Ter) SNV
Germline
Chr17:72123875 Pathogenic/Likely pathogenic Condition: not provided
Camptomelic dysplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA400867544 rs_1339655148

2 SubmittersRCV000578794RCV002530370

NM_000346.4(SOX9):c.1212C>T (p.Pro404=) SNV
Germline
Chr17:72124069 Conflicting classifications of pathogenicity Condition: not provided
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications
CA8739123 rs_749575769

2 SubmittersRCV000592150RCV003497857

NM_000346.4(SOX9):c.15C>T (p.Asp5=) SNV
Germline
Chr17:72121406 Conflicting classifications of pathogenicity Condition: not provided
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications
CA501432365 rs_768210143

2 SubmittersRCV000595817RCV003603060

NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) SNV
Germline
Chr17:72122795 Pathogenic/Likely pathogenic Camptomelic dysplasia
Campomelic dysplasia with autosomal sex reversal
Condition: not provided
See cases
Criteria Provided
Multiple Submitters
No Conflicts
rs_866706988

5 SubmittersRCV000677668RCV000853284RCV003318624RCV004584402

NM_000346.4(SOX9):c.491A>C (p.Gln164Pro) SNV
Germline
Chr17:72122778 Pathogenic Camptomelic dysplasia No Assertion Criteria Provided
rs_1567910689

1 SubmittersRCV000754788

NM_000346.4(SOX9):c.957C>G (p.Tyr319Ter) SNV
Germline
Chr17:72123814 Pathogenic/Likely pathogenic Camptomelic dysplasia No Assertion Criteria Provided
rs_1324081394

2 SubmittersRCV000853396

NM_000346.4(SOX9):c.1177C>T (p.Gln393Ter) SNV
Germline
Chr17:72124034 Pathogenic/Likely pathogenic Camptomelic dysplasia No Assertion Criteria Provided
rs_1598176852

2 SubmittersRCV000853398

NM_000346.4(SOX9):c.1234C>T (p.Gln412Ter) SNV
Germline
Chr17:72124091 Pathogenic/Likely pathogenic Camptomelic dysplasia No Assertion Criteria Provided
rs_1341243329

2 SubmittersRCV000853397

NM_000346.4(SOX9):c.432-2A>T SNV
Germline
Chr17:72122717 Pathogenic Camptomelic dysplasia Criteria Provided
Multiple Submitters
No Conflicts
rs_1908139210

2 SubmittersRCV001219584

NM_000346.4(SOX9):c.503A>G (p.Asp168Gly) SNV
Unknown
Chr17:72122790 Likely pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
rs_1908142618

1 SubmittersRCV001249774

NM_000346.4(SOX9):c.508C>G (p.Pro170Ala) SNV
Germline
Chr17:72122795 Pathogenic/Likely pathogenic Condition: not provided
Camptomelic dysplasia
Criteria Provided
Multiple Submitters
No Conflicts
rs_866706988

4 SubmittersRCV001291597RCV001329809

NM_000346.4(SOX9):c.419G>A (p.Gly140Asp) SNV
Germline
Chr17:72121810 Likely pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
rs_2143241065

1 SubmittersRCV001378492

NM_000346.4(SOX9):c.529C>T (p.Arg177Trp) SNV
Germline
Chr17:72122816 Likely pathogenic Camptomelic dysplasia No Assertion Criteria Provided
rs_2143246033

1 SubmittersRCV001788518

NM_000346.4(SOX9):c.473C>T (p.Ala158Val) SNV
Germline
Chr17:72122760 Pathogenic/Likely pathogenic Condition: not provided
Camptomelic dysplasia
Criteria Provided
Multiple Submitters
No Conflicts
rs_2143245422

2 SubmittersRCV001552906RCV003497923

NM_000346.4(SOX9):c.1058C>A (p.Pro353Gln) SNV
Germline
Chr17:72123915 Conflicting classifications of pathogenicity Condition: not provided
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications
rs_762041707

2 SubmittersRCV001557260RCV002072095

NM_000346.4(SOX9):c.359G>T (p.Arg120Leu) SNV
Germline
Chr17:72121750 Conflicting classifications of pathogenicity Condition: not provided
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications
rs_2143240394

2 SubmittersRCV001596876RCV001866250

NM_000346.4(SOX9):c.337A>G (p.Met113Val) SNV
Germline
Chr17:72121728 Pathogenic Condition: not provided
Camptomelic dysplasia
Criteria Provided
Multiple Submitters
No Conflicts
rs_2143240089

2 SubmittersRCV001658995RCV003497930

NM_000346.4(SOX9):c.313G>T (p.Val105Phe) SNV
Germline
Chr17:72121704 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
rs_2143239754

1 SubmittersRCV001926346

NM_000346.4(SOX9):c.527C>T (p.Pro176Leu) SNV
Germline
Chr17:72122814 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
rs_1555629170

1 SubmittersRCV001960726

NM_000346.4(SOX9):c.508C>A (p.Pro170Thr) SNV
Germline
Chr17:72122795 Pathogenic/Likely pathogenic Camptomelic dysplasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_866706988

2 SubmittersRCV002030505RCV003442989

NM_000346.4(SOX9):c.339G>A (p.Met113Ile) SNV
Germline
Chr17:72121730 Likely pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
rs_2143240113

1 SubmittersRCV002029596

NM_000346.4(SOX9):c.686-2A>G SNV
Germline
Chr17:72123541 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
rs_2143250007

1 SubmittersRCV002086750

NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) SNV
Germline
Chr17:72123596 Conflicting classifications of pathogenicity Camptomelic dysplasia Criteria Provided
Conflicting Classifications
rs_566929141

2 SubmittersRCV002155006

NM_000346.4(SOX9):c.218T>C (p.Ile73Thr) SNV
Germline
Chr17:72121609 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
rs_2143238589

1 SubmittersRCV002272894

NM_000346.4(SOX9):c.517A>T (p.Lys173Ter) SNV
Germline
Chr17:72122804 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter
rs_104894647

1 SubmittersRCV002273153

NM_000346.4(SOX9):c.916G>T (p.Val306Leu) SNV
Germline
Chr17:72123773 Conflicting classifications of pathogenicity Connective tissue disorder
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications
rs_779386878

2 SubmittersRCV002278812RCV003603120

NM_000346.4(SOX9):c.432-2A>C SNV
Germline
Chr17:72122717 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003064487

NM_000346.4(SOX9):c.455G>C (p.Arg152Pro) SNV
Germline
Chr17:72122742 Pathogenic/Likely pathogenic Camptomelic dysplasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003041323RCV003128880

NM_000346.4(SOX9):c.16C>T (p.Pro6Ser) SNV
Germline
Chr17:72121407 Conflicting classifications of pathogenicity Camptomelic dysplasia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002627869RCV002627868

NM_000346.4(SOX9):c.337A>T (p.Met113Leu) SNV
Germline
Chr17:72121728 Likely pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002814459

NM_000346.4(SOX9):c.683C>A (p.Ser228Ter) SNV
Germline
Chr17:72122970 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002908089

NM_000346.4(SOX9):c.515A>T (p.Tyr172Phe) SNV
Germline
Chr17:72122802 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002918289

NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala) SNV
Germline
Chr17:72123956 Conflicting classifications of pathogenicity Inborn genetic diseases
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications

3 SubmittersRCV002979712RCV002994276

NM_000346.4(SOX9):c.685+2T>C SNV
Germline
Chr17:72122974 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003017271

NM_000346.4(SOX9):c.1081C>A (p.Gln361Lys) SNV
Germline
Chr17:72123938 Conflicting classifications of pathogenicity Inborn genetic diseases
Camptomelic dysplasia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002817512RCV003603138

NM_000346.4(SOX9):c.829G>T (p.Glu277Ter) SNV
Germline
Chr17:72123686 Likely pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003131563

NM_000346.4(SOX9):c.326T>C (p.Met109Thr) SNV
Unknown
Chr17:72121717 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003333600

NM_000346.4(SOX9):c.760C>T (p.Arg254Ter) SNV
Germline
Chr17:72123617 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003498203

NM_000346.4(SOX9):c.685+1G>A SNV
Germline
Chr17:72122973 Pathogenic Camptomelic dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003497337