Total 9 pathogenic variants reported for Progressive osseous heteroplasia

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.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 SubmittersRCV000850178 RCV005054277
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