Total 69 pathogenic variants reported for Hypertrophic osteoarthropathy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000860.6(HPGD):c.418G>C (p.Ala140Pro) SNV
Germline		 Chr4:174508699 Pathogenic Cranioosteoarthropathy
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119153 rs_121434480

3 SubmittersRCV000008379RCV000144084RCV001781205
NM_005630.3(SLCO2A1):c.97-1G>A SNV
Germline		 Chr3:133979619 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354621448 rs_1559943990

1 SubmittersRCV000023104
NM_005630.3(SLCO2A1):c.764G>A (p.Gly255Glu) SNV
Germline		 Chr3:133951305 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA129009 rs_387906806

2 SubmittersRCV000023105RCV005089304
NM_005630.3(SLCO2A1):c.754C>T (p.Arg252Ter) SNV
Germline		 Chr3:133951315 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA130094 rs_370769816

1 SubmittersRCV003642868
NM_005630.3(SLCO2A1):c.1259G>T (p.Cys420Phe) SNV
Germline		 Chr3:133947292 Pathogenic/Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130096 rs_387907295

3 SubmittersRCV000030780RCV002223177
NM_005630.3(SLCO2A1):c.253A>T (p.Ile85Phe) SNV
Germline		 Chr3:133973807 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA130097 rs_387907296

1 SubmittersRCV000030781
NM_005630.3(SLCO2A1):c.310G>T (p.Gly104Ter) SNV
Germline		 Chr3:133973750 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Hypertrophic osteoarthropathy, primary, autosomal dominant
Condition: not provided		 Criteria Provided
Single Submitter
 CA130098 rs_387907297

2 SubmittersRCV000030782RCV001527661RCV002513277
NM_000860.6(HPGD):c.1A>T (p.Met1Leu) SNV
Germline		 Chr4:174522451 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA170750 rs_577045722

2 SubmittersRCV000144085RCV003727619
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter) SNV
Germline		 Chr3:133935781 Pathogenic/Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Hypertrophic osteoarthropathy, primary, autosomal dominant
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2626315 rs_776813259

4 SubmittersRCV000490280RCV001527663RCV002517444
NM_005630.3(SLCO2A1):c.940+1G>A SNV
Germline		 Chr3:133948892 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2626630 rs_765249238

3 SubmittersRCV000490351RCV001389437
NM_000860.6(HPGD):c.78G>A (p.Leu26=) SNV
Germline		 Chr4:174522374 Conflicting classifications of pathogenicity Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Isolated congenital digital clubbing
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3142415 rs_750817164

2 SubmittersRCV000310890RCV000395849RCV002520229
NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg) SNV
Germline		 Chr3:133953723 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Hypertrophic osteoarthropathy, primary, autosomal dominant
Condition: not provided		 Criteria Provided
Single Submitter
 CA2626753 rs_774795340

3 SubmittersRCV000505666RCV001527659RCV002527331
NM_000860.6(HPGD):c.446C>G (p.Pro149Arg) SNV
Germline		 Chr4:174495600 Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 No Assertion Criteria Provided
 CA358812384 rs_375335006

1 SubmittersRCV000735693
NM_005630.3(SLCO2A1):c.484C>G (p.Pro162Ala) SNV
Germline		 Chr3:133955107 Conflicting classifications of pathogenicity Condition: not provided
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2		 Criteria Provided
Conflicting Classifications
 CA2626811 rs_140769111

2 SubmittersRCV000902042RCV001335307
NM_000860.6(HPGD):c.606A>G (p.Gln202=) SNV
Germline		 Chr4:174493207 Conflicting classifications of pathogenicity Condition: not provided
Isolated congenital digital clubbing
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
HPGD-related disorder		 Criteria Provided
Conflicting Classifications
 CA3142210 rs_374385011

3 SubmittersRCV000980305RCV001147670RCV001147671RCV004543658
NM_005630.3(SLCO2A1):c.1106-1G>C SNV
Germline		 Chr3:133947446 Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354616759 rs_1576428882

1 SubmittersRCV001029822
NM_000860.6(HPGD):c.*41A>G SNV
Germline		 Chr4:174491915 Conflicting classifications of pathogenicity Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Isolated congenital digital clubbing
Isolated congenital digital clubbing
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1		 Criteria Provided
Conflicting Classifications
 CA3142155 rs_201828747

2 SubmittersRCV001146769RCV001144805RCV004726902
NM_005630.3(SLCO2A1):c.290G>A (p.Arg97His) SNV
Unknown		 Chr3:133973770 Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 Criteria Provided
Single Submitter
 CA354620397 rs_1376989560

1 SubmittersRCV001198034
NM_000860.6(HPGD):c.34G>A (p.Gly12Ser) SNV
Germline		 Chr4:174522418 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 No Assertion Criteria Provided
 CA358813582 rs_1736201319

1 SubmittersRCV001250391
NM_000860.6(HPGD):c.313C>T (p.Gln105Ter) SNV
Germline		 Chr4:174517982 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Criteria Provided
Single Submitter
 CA358812945 rs_751774080

2 SubmittersRCV001250392
NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg) SNV
Germline		 Chr3:133955044 Pathogenic/Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2626798 rs_774038272

5 SubmittersRCV001255886RCV001879945
NM_005630.3(SLCO2A1):c.861+2T>C SNV
Germline		 Chr3:133951206 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal dominant
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2		 No Assertion Criteria Provided
 CA354617304 rs_2108043577

1 SubmittersRCV001527660RCV003642961
NM_005630.3(SLCO2A1):c.302T>G (p.Ile101Ser) SNV
Germline		 Chr3:133973758 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal dominant No Assertion Criteria Provided
 CA354620377 rs_765824772

1 SubmittersRCV001527662
NM_005630.3(SLCO2A1):c.621C>A (p.Tyr207Ter) SNV
Germline		 Chr3:133954970 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354618034 rs_778081416

1 SubmittersRCV001527664
NM_005630.3(SLCO2A1):c.1660G>A (p.Gly554Arg) SNV
Germline		 Chr3:133938459 Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Hypertrophic osteoarthropathy, primary, autosomal dominant
Condition: not provided		 Criteria Provided
Single Submitter
 CA354615555 rs_1177054873

2 SubmittersRCV001527666RCV001527665RCV003558833
NM_005630.3(SLCO2A1):c.1814+1G>A SNV
Germline		 Chr3:133935773 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354615215 rs_2108035368

1 SubmittersRCV001527667
NM_005630.3(SLCO2A1):c.614C>T (p.Pro205Leu) SNV
Germline		 Chr3:133954977 Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354618047 rs_2108045784

1 SubmittersRCV001533515
NM_005630.3(SLCO2A1):c.529C>T (p.Gln177Ter) SNV
Germline		 Chr3:133955062 Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354618224 rs_2108045848

1 SubmittersRCV001533516
NM_005630.3(SLCO2A1):c.1624C>T (p.Arg542Cys) SNV
Germline		 Chr3:133942606 Conflicting classifications of pathogenicity Condition: not provided
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2		 Criteria Provided
Conflicting Classifications
 CA2626403 rs_566240756

4 SubmittersRCV001973193RCV003642982
NM_005630.3(SLCO2A1):c.1106G>A (p.Gly369Asp) SNV
Germline		 Chr3:133947445 Pathogenic Condition: not provided
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2		 Criteria Provided
Single Submitter
 CA2626556 rs_200316980

2 SubmittersRCV001998798RCV003642983
NM_005630.3(SLCO2A1):c.904G>C (p.Ala302Pro) SNV
Germline		 Chr3:133948929 Conflicting classifications of pathogenicity Condition: not provided
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2		 Criteria Provided
Conflicting Classifications
 CA2626634 rs_142480645

3 SubmittersRCV002030634RCV004720353
NM_005630.3(SLCO2A1):c.310G>A (p.Gly104Arg) SNV
Germline		 Chr3:133973750 Likely pathogenic Condition: not provided
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2		 Criteria Provided
Single Submitter
 CA2626869 rs_387907297

2 SubmittersRCV002042148RCV003642981
NM_005630.3(SLCO2A1):c.133C>T (p.Gln45Ter) SNV
Germline		 Chr3:133979582 Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 Criteria Provided
Single Submitter
 CA354621368 rs_1576444504

1 SubmittersRCV002052072
NM_000860.6(HPGD):c.498+1G>A SNV
Germline		 Chr4:174495547 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 No Assertion Criteria Provided
 CA358812278 rs_2477840776

1 SubmittersRCV002287551
NM_000860.6(HPGD):c.38C>A (p.Ala13Glu) SNV
Germline		 Chr4:174522414 Conflicting classifications of pathogenicity Condition: not provided
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1		 Criteria Provided
Conflicting Classifications
 CA358813574 rs_2477966287

2 SubmittersRCV002942331RCV003312066
NM_000860.6(HPGD):c.662+2T>A SNV
Germline		 Chr4:174493149 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Criteria Provided
Single Submitter
 CA358811901 rs_1579268244

1 SubmittersRCV003223600
NM_005630.3(SLCO2A1):c.421G>T (p.Glu141Ter) SNV
Germline		 Chr3:133955170 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354618469 rs_148547180

1 SubmittersRCV003643500
NM_005630.3(SLCO2A1):c.1106-1G>A SNV
Germline		 Chr3:133947446 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354616760 rs_1576428882

1 SubmittersRCV003643501
NM_005630.3(SLCO2A1):c.178G>A (p.Glu60Lys) SNV
Germline		 Chr3:133979537 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354621269 rs_1406040264

1 SubmittersRCV003643502
NM_005630.3(SLCO2A1):c.759G>A (p.Trp253Ter) SNV
Germline		 Chr3:133951310 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354617518 rs_2472460701

1 SubmittersRCV003643503
NM_005630.3(SLCO2A1):c.440G>A (p.Trp147Ter) SNV
Germline		 Chr3:133955151 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 Criteria Provided
Single Submitter
 CA2626817 rs_745477350

2 SubmittersRCV003643504
NM_005630.3(SLCO2A1):c.1095C>A (p.Asn365Lys) SNV
Germline		 Chr3:133948546 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354616791 rs_1300597092

1 SubmittersRCV003643505
NM_005630.3(SLCO2A1):c.1668G>C (p.Gln556His) SNV
Germline		 Chr3:133938451 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354615539 rs_1933329681

1 SubmittersRCV003643507
NM_005630.3(SLCO2A1):c.763G>A (p.Gly255Arg) SNV
Germline		 Chr3:133951306 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354617508 rs_2472460697

1 SubmittersRCV003643508
NM_005630.3(SLCO2A1):c.1461+1G>C SNV
Germline		 Chr3:133945094 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354615993 rs_2530970295

1 SubmittersRCV003643510
NM_005630.3(SLCO2A1):c.1372G>T (p.Val458Phe) SNV
Germline		 Chr3:133945184 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 No Assertion Criteria Provided
 CA354616187 rs_892909504

1 SubmittersRCV003643511
NM_000860.6(HPGD):c.324+5G>A SNV
Germline		 Chr4:174517966 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Criteria Provided
Single Submitter

2 SubmittersRCV004787165
NM_000860.6(HPGD):c.189C>A (p.Cys63Ter) SNV
Germline		 Chr4:174521972 Pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 No Assertion Criteria Provided

1 SubmittersRCV004790118
NM_005630.3(SLCO2A1):c.1016C>T (p.Ser339Phe) SNV
Germline		 Chr3:133948625 Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 Criteria Provided
Single Submitter

1 SubmittersRCV004813497
NM_000860.6(HPGD):c.421+1G>T SNV
Germline		 Chr4:174508695 Pathogenic Condition: not provided
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005189884RCV005358254
NM_005630.3(SLCO2A1):c.763G>T (p.Gly255Ter) SNV
Germline		 Chr3:133951306 Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal dominant
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2		 Criteria Provided
Single Submitter

1 SubmittersRCV005356819
NM_000860.6(HPGD):c.453T>G (p.Tyr151Ter) SNV
Germline		 Chr4:174495593 Likely pathogenic Isolated congenital digital clubbing
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005398071
NM_005630.3(SLCO2A1):c.669C>G (p.Tyr223Ter) SNV
Germline		 Chr3:133953718 Likely pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Hypertrophic osteoarthropathy, primary, autosomal dominant		 Criteria Provided
Single Submitter

1 SubmittersRCV005393906