"GeneDx"[submitter] AND "LOC130064709"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 1304229	NM_025136.4(OPA3):c.59G>A (p.Ser20Asn)	LOC130064709, OPA3 (S20N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620409	NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)	OPA3, LOC130064709 (Q18*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3 +2 more	GPathogenic/Likely pathogenic
Select item 430549	NM_025136.4(OPA3):c.30G>T (p.Lys10Asn)	LOC130064709, OPA3 (K10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2946297	NM_025136.4(OPA3):c.7G>C (p.Val3Leu)	LOC130064709, OPA3 (V3L)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +2 more	GUncertain significance
Select item 138572	NM_025136.4(OPA3):c.-38A>G	LOC130064709, OPA3	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 329687	NM_025136.3(OPA3):c.-75G>A	LOC130064709, OPA3	Single nucleotide variant	3-Methylglutaconic aciduria type 3 +2 more	GBenign
Select item 329688	NM_025136.3(OPA3):c.-86G>A	LOC130064709, OPA3	Single nucleotide variant	3-Methylglutaconic aciduria type 3 +2 more	GBenign

ClinVar