"GeneDx"[submitter] AND "OPLAH"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
Select item 1165137	NM_017570.5(OPLAH):c.3027C>T (p.Ala1009=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency +1 more	GBenign
Select item 392467	NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys)	OPLAH (R924C)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +2 more	GUncertain significance
Select item 3343778	NM_017570.5(OPLAH):c.2476G>T (p.Gly826Cys)	OPLAH (G826C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 578462	NM_017570.5(OPLAH):c.2473G>A (p.Gly825Arg)	OPLAH (G825R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3343777	NM_017570.5(OPLAH):c.682A>G (p.Ile228Val)	OPLAH (I228V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504164	NM_017570.5(OPLAH):c.587+1G>C	OPLAH	Single nucleotide variant (splice donor variant)	not provided	GPathogenic

ClinVar