"PTH1R-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 345577	NM_000316.3(PTH1R):c.128G>A (p.Arg43His)	PTH1R (R43H)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type +5 more	GBenign/Likely benign
Select item 3031337	NM_000316.3(PTH1R):c.816C>G (p.Ala272=)	PTH1R	Single nucleotide variant (synonymous variant)	PTH1R-related disorder	GLikely benign
Select item 345592	NM_000316.3(PTH1R):c.1050-3dup	PTH1R	Duplication (intron variant)	Metaphyseal chondrodysplasia +7 more	GConflicting classifications of pathogenicity
Select item 1669148	NM_000316.3(PTH1R):c.1117-8T>C	PTH1R	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1374780	NM_000316.3(PTH1R):c.1348T>C (p.Phe450Leu)	PTH1R (F450L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1395519	NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys)	PTH1R (E465K)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type +3 more	GUncertain significance
Select item 1169929	NM_000316.3(PTH1R):c.1710C>T (p.Gly570=)	PTH1R	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 2631091	NM_000316.3(PTH1R):c.1747G>A (p.Ala583Thr)	PTH1R (A583T)	Single nucleotide variant (missense variant)	PTH1R-related disorder	GUncertain significance

ClinVar