Total 38 pathogenic variants reported for Pseudopseudohypoparathyroidism 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000516.7(GNAS):c.839+1G>C SNV
Germline		 Chr20:58909805 Pathogenic Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism		 No Assertion Criteria Provided
 CA409452846 rs_1601164378

1 SubmittersRCV000017279RCV000017280
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) SNV
Germline		 Chr20:58909737 Conflicting classifications of pathogenicity Pseudopseudohypoparathyroidism
Condition: not provided
Inborn genetic diseases
Pseudohypoparathyroidism type I A
GNAS-related disorder		 Criteria Provided
Conflicting Classifications
 CA214672 rs_137854535

10 SubmittersRCV000017306RCV000595336RCV001265731RCV001731308RCV005867765
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) SNV
Germline		 Chr20:58903703 Pathogenic/Likely pathogenic Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126104 rs_137854539

4 SubmittersRCV000017323RCV000017322RCV002243646
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) SNV
Germline		 Chr20:58891760 Pathogenic Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism
Inborn genetic diseases
Pseudopseudohypoparathyroidism
8 conditions
Condition: not provided
GNAS-related disorder
Pseudohypoparathyroidism type I A
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA250351 rs_797045046

10 SubmittersRCV000191090RCV001265981RCV002051824RCV002503750RCV003556238RCV004530088RCV004786518RCV006436695
NM_080425.4(GNAS):c.475G>A (p.Glu159Lys) SNV
Germline		 Chr20:58853740 Conflicting classifications of pathogenicity Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA409455990 rs_1135401777

2 SubmittersRCV000496133RCV003313085
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
Acrodysostosis 1 with or without hormone resistance
Pigmented nodular adrenocortical disease, primary, 1
Familial atrial myxoma
Condition: not provided
Carney complex, type 1
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA400754491 rs_1555815121

5 SubmittersRCV000497832RCV000763414RCV001544784RCV002524110RCV005646775
NM_000516.7(GNAS):c.432+1G>A SNV
Germline		 Chr20:58903792 Pathogenic Pseudopseudohypoparathyroidism
Inborn genetic diseases
Condition: not provided
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA409450720 rs_1555889131

7 SubmittersRCV000515760RCV000623168RCV001857879RCV005901103
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) SNV
Germline		 Chr20:58909718 Conflicting classifications of pathogenicity Pseudopseudohypoparathyroidism
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA409452512 rs_1272546759

2 SubmittersRCV000754872RCV005092169
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) SNV
Germline		 Chr20:58903573 Likely pathogenic Pseudopseudohypoparathyroidism Criteria Provided
Single Submitter
 CA409450310 rs_1569015549

1 SubmittersRCV000785915
NM_002734.5(PRKAR1A):c.178-3C>T SNV
Germline		 Chr17:68522753 Conflicting classifications of pathogenicity Carney complex, type 1
Hereditary cancer-predisposing syndrome
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis		 Criteria Provided
Conflicting Classifications
 CA8729190 rs_745980273

3 SubmittersRCV000794736RCV001013169RCV006440118
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg) SNV
Germline		 Chr20:58891863 Conflicting classifications of pathogenicity Pseudohypoparathyroidism
Pseudohypoparathyroidism type I A
Pseudohypoparathyroidism type 1B
Progressive osseous heteroplasia
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism type 1C		 Criteria Provided
Conflicting Classifications
 CA409449096 rs_1600976255

2 SubmittersRCV000850178RCV005054277
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) SNV
Germline		 Chr20:58909552 Pathogenic/Likely pathogenic Pseudohypoparathyroidism
Condition: not provided
Pseudohypoparathyroidism type I A
8 conditions
Inborn genetic diseases
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type I A
GNAS-related disorder
Pseudopseudohypoparathyroidism		 Criteria Provided
Multiple Submitters
No Conflicts
 CA409452326 rs_1601162438

12 SubmittersRCV001007922RCV001269956RCV002283517RCV002497329RCV002549273RCV003336225RCV004536045RCV004761863
NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg) SNV
Germline		 Chr20:58910701 Pathogenic/Likely pathogenic Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism type I A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA409453718 rs_2146305127

2 SubmittersRCV005866981RCV001732173
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) SNV
Germline		 Chr20:58909206 Conflicting classifications of pathogenicity Condition: not provided
GNAS-related disorder
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis		 Criteria Provided
Conflicting Classifications
 CA409452044 rs_2091273769

4 SubmittersRCV001596612RCV004528525RCV006276097
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala) SNV
Unknown		 Chr20:58903723 Likely pathogenic Pseudopseudohypoparathyroidism Criteria Provided
Single Submitter
 CA409450464 rs_2146183586

1 SubmittersRCV001730120
NM_000516.7(GNAS):c.1039-1G>A SNV
Germline		 Chr20:58910682 Likely pathogenic Pseudopseudohypoparathyroidism Criteria Provided
Single Submitter
 CA409453673 rs_2146304851

1 SubmittersRCV002251256
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly) SNV
Germline		 Chr20:58853972 Conflicting classifications of pathogenicity Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism type I A
Condition: not provided
GNAS-related disorder		 Criteria Provided
Conflicting Classifications
 CA9926525 rs_201290965

3 SubmittersRCV002468462RCV004546733RCV004545328
NM_000516.7(GNAS):c.308T>C (p.Ile103Thr) SNV
Germline		 Chr20:58903581 Pathogenic/Likely pathogenic Condition: not provided
Pseudohypoparathyroidism type I A
Inborn genetic diseases
Pseudopseudohypoparathyroidism		 Criteria Provided
Multiple Submitters
No Conflicts
 CA409450330 rs_2146178784

5 SubmittersRCV003050559RCV004786809RCV005844160RCV005930327
NM_000516.7(GNAS):c.320T>G (p.Val107Gly) SNV
Unknown		 Chr20:58903679 Likely pathogenic Pseudopseudohypoparathyroidism Criteria Provided
Single Submitter
 CA409450366 rs_2146182293

1 SubmittersRCV003455836
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter) SNV
Germline		 Chr20:58840140 Likely pathogenic Pseudopseudohypoparathyroidism Criteria Provided
Single Submitter
 rs_2085661524

1 SubmittersRCV004577195
NM_000516.7(GNAS):c.124C>G (p.Arg42Gly) SNV
Germline		 Chr20:58891850 Likely pathogenic Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis Criteria Provided
Single Submitter

1 SubmittersRCV004783154
NM_001104631.2(PDE4D):c.671C>T (p.Thr224Ile) SNV
Germline		 Chr5:59193513 Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005407464RCV005646789
NM_000516.7(GNAS):c.1173C>G (p.Tyr391Ter) SNV
Unknown		 Chr20:58910817 Likely pathogenic Pseudohypoparathyroidism type 1C
Progressive osseous heteroplasia
Pseudohypoparathyroidism type I A
Pseudohypoparathyroidism type 1B
Pseudopseudohypoparathyroidism		 Criteria Provided
Single Submitter

1 SubmittersRCV005604899