"Blueprint Genetics"[submitter] AND "NPR2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224310	NM_003995.4(NPR2):c.154G>A (p.Ala52Thr)	NPR2 (A52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224364	NM_003995.4(NPR2):c.673_680dup (p.Gly228fs)	NPR2 (G228fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1224426	NM_003995.4(NPR2):c.895C>T (p.Arg299Ter)	NPR2 (R299*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1224385	NM_003995.4(NPR2):c.922G>C (p.Glu308Gln)	NPR2 (E308Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283086	NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln)	NPR2 (R776Q +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GConflicting classifications of pathogenicity
Select item 1224427	NM_003995.4(NPR2):c.2411G>A (p.Arg804His)	NPR2 (R804H +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 873127	NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)	NPR2, SPAG8 (T907M +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature with nonspecific skeletal abnormalities +3 more	GPathogenic/Likely pathogenic

ClinVar