"Revvity Omics, Revvity"[submitter] AND "NPR2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208359	NM_003995.4(NPR2):c.328C>T (p.Arg110Cys)	NPR2 (R110C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GConflicting classifications of pathogenicity
Select item 2434424	NM_003995.4(NPR2):c.421C>T (p.Arg141Cys)	NPR2 (R141C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689600	NM_003995.4(NPR2):c.663_664delinsAA (p.Arg222Ser)	NPR2 (R222S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2434421	NM_003995.4(NPR2):c.784C>A (p.Leu262Ile)	NPR2 (L262I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 914447	NM_003995.4(NPR2):c.952C>T (p.Arg318Trp)	NPR2 (R318W)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 2434422	NM_003995.4(NPR2):c.2375A>G (p.Glu792Gly)	NPR2 (E792G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418389	NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)	SPAG8, NPR2 (R989L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic

ClinVar