"GeneDx"[submitter] AND "OXR1"[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 3372527	NM_001198533.2(OXR1):c.221-21196A>G	LOC130000962, OXR1 (K10E)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2322758	NM_001198533.2(OXR1):c.625T>A (p.Phe209Ile)	OXR1 (F209I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2506877	NM_001198533.2(OXR1):c.959A>G (p.Asn320Ser)	OXR1 (N313S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573669	NM_001198533.2(OXR1):c.1329A>G (p.Ile443Met)	OXR1 (I436M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372526	NM_001198533.2(OXR1):c.1624+2dup	OXR1	Duplication (splice donor variant)	not provided	GUncertain significance

ClinVar