Total 28 pathogenic variants reported for Coxopodopatellar syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001321120.2(TBX4):c.743G>T (p.Gly248Val) SNV
Germline		 Chr17:61479921 Pathogenic Coxopodopatellar syndrome No Assertion Criteria Provided
 CA340707 rs_28938474

1 SubmittersRCV000008305
NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter) SNV
Germline		 Chr17:61456674 Pathogenic Coxopodopatellar syndrome No Assertion Criteria Provided
 CA340708 rs_104894648

1 SubmittersRCV000008306
NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) SNV
Germline		 Chr17:61483470 Pathogenic Coxopodopatellar syndrome No Assertion Criteria Provided
 CA340710 rs_28936696

2 SubmittersRCV000008307
NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg) SNV
Germline		 Chr17:61465872 Conflicting classifications of pathogenicity Coxopodopatellar syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8689795 rs_377571192

2 SubmittersRCV000367202RCV003168479
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) SNV
Germline		 Chr17:61467510 Pathogenic 6 conditions
Autosomal recessive amelia
Coxopodopatellar syndrome		 Criteria Provided
Single Submitter
 rs_1603251494

2 SubmittersRCV000991130RCV001251075RCV001251076
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) SNV
Germline		 Chr17:61482932 Pathogenic Coxopodopatellar syndrome
Pulmonary hypertension, primary, 1
Coxopodopatellar syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1603256040

3 SubmittersRCV000984862RCV001827123RCV002549631
NM_001321120.2(TBX4):c.792-1G>C SNV
Germline		 Chr17:61480089 Likely pathogenic Coxopodopatellar syndrome
Pulmonary hypertension, primary, 1		 Criteria Provided
Single Submitter
 rs_1603255224

2 SubmittersRCV000984863RCV001827124
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter) SNV
Germline		 Chr17:61465876 Pathogenic Autosomal recessive amelia
Coxopodopatellar syndrome
Abnormality of prenatal development or birth		 Criteria Provided
Single Submitter
 rs_1603251001

2 SubmittersRCV000993789RCV000993790RCV001814249
NM_001321120.2(TBX4):c.281+1G>T SNV
Germline		 Chr17:61457632 Pathogenic Coxopodopatellar syndrome Criteria Provided
Single Submitter
 rs_1555881112

1 SubmittersRCV000995662
NM_001321120.2(TBX4):c.399A>T (p.Lys133Asn) SNV
Germline		 Chr17:61465936 Conflicting classifications of pathogenicity Coxopodopatellar syndrome
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_147644451

3 SubmittersRCV001125402RCV002556715RCV003546635
NM_001321120.2(TBX4):c.791+11G>T SNV
Germline		 Chr17:61479980 Conflicting classifications of pathogenicity Coxopodopatellar syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_368363345

2 SubmittersRCV001127487RCV003769222
NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter) SNV
Unknown		 Chr17:61480277 Likely pathogenic Coxopodopatellar syndrome No Assertion Criteria Provided
 rs_2060654742

1 SubmittersRCV001261981
NM_001321120.2(TBX4):c.1021+1G>A SNV
Germline		 Chr17:61480320 Pathogenic/Likely pathogenic Condition: not provided
Pulmonary hypertension, primary, 1
Coxopodopatellar syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1428934331

3 SubmittersRCV001787601RCV001827592
NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter) SNV
Germline		 Chr17:61479959 Pathogenic Pulmonary hypertension, primary, 1
Coxopodopatellar syndrome		 Criteria Provided
Single Submitter
 rs_774711057

2 SubmittersRCV001829318RCV002074388
NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser) SNV
Germline		 Chr17:61465853 Likely pathogenic Pulmonary hypertension, primary, 1
Coxopodopatellar syndrome		 Criteria Provided
Single Submitter
 rs_200429513

1 SubmittersRCV001829352
NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp) SNV
Germline		 Chr17:61479926 Pathogenic Coxopodopatellar syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_2143860927

2 SubmittersRCV001829359RCV002034695
NM_001321120.2(TBX4):c.3G>A (p.Met1Ile) SNV
Germline		 Chr17:61456493 Likely pathogenic Coxopodopatellar syndrome Criteria Provided
Single Submitter
 rs_868469301

1 SubmittersRCV002249189
NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu) SNV
Unknown		 Chr17:61457621 Likely pathogenic Coxopodopatellar syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002795926
NM_001321120.2(TBX4):c.549+1G>A SNV
Germline		 Chr17:61467658 Pathogenic Coxopodopatellar syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003984957