Total 42 pathogenic variants reported for Acrodysostosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) SNV
Germline		 Chr17:68530405 Pathogenic Acrodysostosis 1 with or without hormone resistance
Condition: not provided
Carney complex, type 1
Pigmented nodular adrenocortical disease, primary, 1
Acrodysostosis 1 with or without hormone resistance
Carney complex
PRKAR1A-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA128739 rs_387906692

12 SubmittersRCV000022791RCV000760318RCV001852002RCV001824573RCV003398560
NM_002734.5(PRKAR1A):c.1004G>C (p.Arg335Pro) SNV
Germline		 Chr17:68530307 Pathogenic Acrodysostosis 1 with or without hormone resistance No Assertion Criteria Provided
 CA128749 rs_387906694

1 SubmittersRCV000022793
NM_002734.5(PRKAR1A):c.980T>C (p.Ile327Thr) SNV
Germline		 Chr17:68530283 Pathogenic Acrodysostosis 1 with or without hormone resistance No Assertion Criteria Provided
 CA128754 rs_387906695

1 SubmittersRCV000022794
NM_001104631.2(PDE4D):c.673C>A (p.Pro225Thr) SNV
Germline		 Chr5:59193511 Pathogenic Acrodysostosis 2 with or without hormone resistance No Assertion Criteria Provided
 CA128846 rs_397514464

1 SubmittersRCV000022935
NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser) SNV
Germline		 Chr5:59193507 Pathogenic Acrodysostosis 2 with or without hormone resistance No Assertion Criteria Provided
 CA128848 rs_397514465

1 SubmittersRCV000022936
NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala) SNV
Germline		 Chr5:59215856 Pathogenic Acrodysostosis 2 with or without hormone resistance No Assertion Criteria Provided
 CA128850 rs_397514466

1 SubmittersRCV000022937
NM_001104631.2(PDE4D):c.1759A>C (p.Thr587Pro) SNV
Germline		 Chr5:58976421 Pathogenic Acrodysostosis 2 with or without hormone resistance No Assertion Criteria Provided
 CA128852 rs_397514467

1 SubmittersRCV000022938
NM_001104631.2(PDE4D):c.682C>G (p.Gln228Glu) SNV
Germline		 Chr5:59193502 Pathogenic Acrodysostosis 2 with or without hormone resistance
Condition: not provided		 Criteria Provided
Single Submitter
 CA128854 rs_397514468

2 SubmittersRCV000022939RCV003556069
NM_001104631.2(PDE4D):c.1952A>C (p.Glu651Ala) SNV
Germline		 Chr5:58975718 Pathogenic Acrodysostosis 2 with or without hormone resistance No Assertion Criteria Provided
 CA128856 rs_387906744

1 SubmittersRCV000022940
NM_001104631.2(PDE4D):c.2018G>A (p.Gly673Asp) SNV
Germline		 Chr5:58975076 Pathogenic Acrodysostosis 2 with or without hormone resistance No Assertion Criteria Provided
 CA128858 rs_397514469

1 SubmittersRCV000022941
NM_001104631.2(PDE4D):c.911C>T (p.Ala304Val) SNV
Germline		 Chr5:59038869 Pathogenic Acrodysostosis 2 with or without hormone resistance No Assertion Criteria Provided
 CA130730 rs_397515433

1 SubmittersRCV000033154
NM_001104631.2(PDE4D):c.677T>G (p.Phe226Cys) SNV
Germline		 Chr5:59193507 Pathogenic Acrodysostosis 2 with or without hormone resistance No Assertion Criteria Provided
 CA150719 rs_397514465

1 SubmittersRCV000087310
NM_001104631.2(PDE4D):c.2033T>C (p.Ile678Thr) SNV
Germline		 Chr5:58975061 Pathogenic Acrodysostosis 2 with or without hormone resistance
Condition: not provided		 Criteria Provided
Single Submitter
 CA150721 rs_587777188

2 SubmittersRCV000087311RCV001854509
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) SNV
Germline		 Chr17:68522799 Conflicting classifications of pathogenicity Acrodysostosis 1 with or without hormone resistance
Hereditary cancer-predisposing syndrome
not specified
Carney complex, type 1
PRKAR1A-related disorder		 Criteria Provided
Conflicting Classifications
 CA8729195 rs_200069356

9 SubmittersRCV000384218RCV000561393RCV000588205RCV000990054RCV003947769
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter) SNV
Germline		 Chr17:68515445 Pathogenic Condition: not provided
Carney complex, type 1
PRKAR1A-related disorder
Acrodysostosis 1 with or without hormone resistance		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603402 rs_886041228

4 SubmittersRCV000265264RCV000558438RCV003409393RCV003469209
NM_001104631.2(PDE4D):c.*2747G>A SNV
Germline		 Chr5:58971917 Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10620614 rs_557226166

2 SubmittersRCV000385859RCV003430914
NM_001104631.2(PDE4D):c.*2100C>T SNV
Germline		 Chr5:58972564 Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10620616 rs_577109679

2 SubmittersRCV000390235RCV003422341
NM_001104631.2(PDE4D):c.1542G>C (p.Leu514=) SNV
Germline		 Chr5:58988503 Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3276056 rs_375617990

2 SubmittersRCV000400169RCV000888326
NM_001104631.2(PDE4D):c.125C>A (p.Pro42Gln) SNV
Germline		 Chr5:59893498 Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance
Condition: not provided
Inborn genetic diseases
PDE4D-related disorder		 Criteria Provided
Conflicting Classifications
 CA3276684 rs_372946517

5 SubmittersRCV000388985RCV000903518RCV002523528RCV003932456
NM_001104631.2(PDE4D):c.2259C>T (p.Gly753=) SNV
Germline		 Chr5:58974835 Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10625040 rs_538879121

2 SubmittersRCV000292756RCV003766035
NM_002734.5(PRKAR1A):c.-16C>A SNV
Germline		 Chr17:68512539 Conflicting classifications of pathogenicity Carney complex, type 1
Acrodysostosis 1 with or without hormone resistance
PRKAR1A-related disorder		 Criteria Provided
Conflicting Classifications
 CA10649935 rs_886053305

2 SubmittersRCV000311693RCV000396986RCV003922376
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val) SNV
Germline		 Chr17:68515502 Conflicting classifications of pathogenicity Acrodysostosis 1 with or without hormone resistance
Carney complex, type 1
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA8729158 rs_377513504

4 SubmittersRCV000323950RCV000541002RCV001017120RCV001280560
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=) SNV
Germline		 Chr17:68522887 Conflicting classifications of pathogenicity Acrodysostosis 1 with or without hormone resistance
Hereditary cancer-predisposing syndrome
Carney complex, type 1		 Criteria Provided
Conflicting Classifications
 CA8729207 rs_746113372

4 SubmittersRCV000345213RCV000565004RCV000645615
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) SNV
Germline		 Chr17:68530327 Conflicting classifications of pathogenicity Carney complex, type 1
Hereditary cancer-predisposing syndrome
Pigmented nodular adrenocortical disease, primary, 1
Carney complex, type 1
Familial atrial myxoma
Acrodysostosis 1 with or without hormone resistance
Condition: not provided
Acrodysostosis 1 with or without hormone resistance		 Criteria Provided
Conflicting Classifications
 CA8729456 rs_146383819

5 SubmittersRCV000459769RCV002379427RCV002489020RCV003159123RCV003463870
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met) SNV
Germline		 Chr17:68524954 Conflicting classifications of pathogenicity Condition: not provided
Carney complex, type 1
Hereditary cancer-predisposing syndrome
not specified
Acrodysostosis 1 with or without hormone resistance		 Criteria Provided
Conflicting Classifications
 CA8729298 rs_199801675

5 SubmittersRCV000493890RCV000692010RCV001024136RCV001731718RCV004568623
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) SNV
Germline		 Chr17:68530306 Likely pathogenic Acrodysostosis 1 with or without hormone resistance
Carney complex, type 1
Pigmented nodular adrenocortical disease, primary, 1
Acrodysostosis 1 with or without hormone resistance
Familial atrial myxoma
Condition: not provided
Carney complex, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA400754491 rs_1555815121

4 SubmittersRCV000497832RCV000763414RCV001544784RCV002524110
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) SNV
Germline		 Chr5:58976418 Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA359814822 rs_1554033934

4 SubmittersRCV000504451RCV000585454
NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn) SNV
Germline		 Chr17:68525800 Conflicting classifications of pathogenicity Carney complex, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Acrodysostosis 1 with or without hormone resistance
PRKAR1A-related disorder		 Criteria Provided
Conflicting Classifications
 CA8729323 rs_755798109

5 SubmittersRCV000528487RCV001024732RCV002223869RCV003459245RCV003419970
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His) SNV
Germline		 Chr17:68530328 Conflicting classifications of pathogenicity Carney complex, type 1
Hereditary cancer-predisposing syndrome
Carney complex, type 1
Acrodysostosis 1 with or without hormone resistance
Pigmented nodular adrenocortical disease, primary, 1
Familial atrial myxoma
Acrodysostosis 1 with or without hormone resistance		 Criteria Provided
Conflicting Classifications
 CA8729457 rs_760033566

4 SubmittersRCV000645594RCV002386079RCV002483863RCV004568431
NM_002734.5(PRKAR1A):c.620A>G (p.Tyr207Cys) SNV
Germline		 Chr17:68525824 Likely pathogenic Acrodysostosis 1 with or without hormone resistance No Assertion Criteria Provided
 rs_1600486197

1 SubmittersRCV000791348
NM_001104631.2(PDE4D):c.240C>G (p.Pro80=) SNV
Germline		 Chr5:59893383 Conflicting classifications of pathogenicity Condition: not provided
Acrodysostosis 2 with or without hormone resistance		 Criteria Provided
Conflicting Classifications
 rs_1345148257

2 SubmittersRCV000910487RCV001152152
NM_002734.5(PRKAR1A):c.-11C>T SNV
Germline		 Chr17:68512544 Conflicting classifications of pathogenicity Carney complex, type 1
Acrodysostosis 1 with or without hormone resistance
PRKAR1A-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1021510770

3 SubmittersRCV001034319RCV001126458RCV003898039
NM_002734.5(PRKAR1A):c.770-8T>G SNV
Germline		 Chr17:68528862 Conflicting classifications of pathogenicity Carney complex, type 1
Acrodysostosis 1 with or without hormone resistance
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_182841147

3 SubmittersRCV001128620RCV001128619RCV002256686
NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr) SNV
Germline		 Chr5:59180622 Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_749222606

3 SubmittersRCV001152150RCV004032799RCV003737004
NM_001104631.2(PDE4D):c.1189-4C>G SNV
Germline		 Chr5:58990906 Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_748827625

2 SubmittersRCV001157621RCV002559514
NM_001104631.2(PDE4D):c.569C>T (p.Ser190Phe) SNV
Unknown		 Chr5:59215855 Likely pathogenic Acrodysostosis 2 with or without hormone resistance Criteria Provided
Single Submitter
 rs_1751144333

1 SubmittersRCV001262446
NM_001104631.2(PDE4D):c.2051A>G (p.Glu684Gly) SNV
Unknown		 Chr5:58975043 Likely pathogenic Acrodysostosis 2 with or without hormone resistance Criteria Provided
Single Submitter
 rs_1743358464

1 SubmittersRCV001270704
NM_002734.5(PRKAR1A):c.549+20A>G SNV
Germline		 Chr17:68524978 Conflicting classifications of pathogenicity Carney complex, type 1
Familial atrial myxoma
Pigmented nodular adrenocortical disease, primary, 1
Carney complex, type 1
Acrodysostosis 1 with or without hormone resistance		 Criteria Provided
Conflicting Classifications
 rs_981055703

2 SubmittersRCV001955073RCV002503662
NM_001104631.2(PDE4D):c.998T>C (p.Ile333Thr) SNV
Unknown		 Chr5:58993389 Pathogenic Acrodysostosis 2 with or without hormone resistance Criteria Provided
Single Submitter

1 SubmittersRCV003153219