C4748792[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1935073	NM_025152.3(NUBPL):c.201A>G (p.Lys67=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2434462	NM_025152.3(NUBPL):c.308T>A (p.Leu103Ter)	NUBPL (L103* +1 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 209179	NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro)	NUBPL (L104P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2434461	NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser)	NUBPL (N129S +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 2434463	NM_025152.3(NUBPL):c.514-19835C>A	NUBPL	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 50317	NM_025152.3(NUBPL):c.815-27T>C	NUBPL	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 21 +3 more	GConflicting classifications of pathogenicity

ClinVar