"3billion"[submitter] AND "PTH1R"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64399	NM_000316.3(PTH1R):c.316C>T (p.Arg106Cys)	PTH1R (R106C)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GLikely benign
Select item 1050981	NM_000316.3(PTH1R):c.1645G>A (p.Glu549Lys)	PTH1R (E549K)	Single nucleotide variant (missense variant)	Eiken syndrome +4 more	GConflicting classifications of pathogenicity