Total 27 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		rs_1601164378	1 SubmittersRCV000017279 RCV000017280
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)	SNV Germline	Chr20:58909737	Pathogenic	Pseudopseudohypoparathyroidism Condition: not provided Inborn genetic diseases Pseudohypoparathyroidism type I A	Criteria Provided Multiple Submitters No Conflicts	CA214672	rs_137854535	9 SubmittersRCV000017306 RCV000595336 RCV001265731 RCV001731308
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 SubmittersRCV000017323 RCV000017322 RCV002243646
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	SNV Germline	Chr20:58891760	Pathogenic	Pseudohypoparathyroidism Pseudopseudohypoparathyroidism Inborn genetic diseases Pseudopseudohypoparathyroidism 8 conditions Condition: not provided GNAS-related disorder Pseudohypoparathyroidism type I A	Criteria Provided Multiple Submitters No Conflicts	CA250351	rs_797045046	9 SubmittersRCV000191090 RCV001265981 RCV002051824 RCV002503750 RCV003556238 RCV004530088 RCV004786518
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 SubmittersRCV000496133 RCV003313085
NM_000516.7(GNAS):c.432+1G>A	SNV Germline	Chr20:58903792	Pathogenic	Pseudopseudohypoparathyroidism Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA409450720	rs_1555889131	6 SubmittersRCV000515760 RCV000623168 RCV001857879
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg)	SNV Germline	Chr20:58909718	Likely pathogenic	Pseudopseudohypoparathyroidism	Criteria Provided Single Submitter		rs_1272546759	1 SubmittersRCV000754872
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn)	SNV Germline	Chr20:58903573	Likely pathogenic	Pseudopseudohypoparathyroidism	Criteria Provided Single Submitter		rs_1569015549	1 SubmittersRCV000785915
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	SNV Germline	Chr20:58909552	Pathogenic/Likely pathogenic	Pseudohypoparathyroidism Condition: not provided 8 conditions Pseudohypoparathyroidism type I A Inborn genetic diseases Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type I A Pseudohypoparathyroidism type 1B Pseudopseudohypoparathyroidism GNAS-related disorder Pseudopseudohypoparathyroidism	Criteria Provided Multiple Submitters No Conflicts		rs_1601162438	11 SubmittersRCV001007922 RCV001269956 RCV002497329 RCV002283517 RCV002549273 RCV003336225 RCV004536045 RCV004761863
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala)	SNV Unknown	Chr20:58903723	Likely pathogenic	Pseudopseudohypoparathyroidism	Criteria Provided Single Submitter		rs_2146183586	1 SubmittersRCV001730120
NM_000516.7(GNAS):c.1039-1G>A	SNV Germline	Chr20:58910682	Likely pathogenic	Pseudopseudohypoparathyroidism	Criteria Provided Single Submitter		rs_2146304851	1 SubmittersRCV002251256
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)	SNV Germline	Chr20:58853972	Conflicting classifications of pathogenicity	Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type I A Pseudopseudohypoparathyroidism GNAS-related disorder Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV002468462 RCV004545328 RCV004546733
NM_000516.7(GNAS):c.320T>G (p.Val107Gly)	SNV Unknown	Chr20:58903679	Likely pathogenic	Pseudopseudohypoparathyroidism	Criteria Provided Single Submitter			1 SubmittersRCV003455836
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter)	SNV Germline	Chr20:58840140	Likely pathogenic	Pseudopseudohypoparathyroidism	Criteria Provided Single Submitter			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