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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029785	NM_003995.4(NPR2):c.2463G>A (p.Gln821=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 1032171	NM_003995.4(NPR2):c.3078+16G>T	NPR2, SPAG8	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GConflicting classifications of pathogenicity
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic

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