C4310737[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 728658	NM_021927.3(GUF1):c.514C>G (p.Gln172Glu)	GUF1 (Q172E)	Single nucleotide variant (5 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 40 +1 more	GConflicting classifications of pathogenicity
Select item 2057871	NM_021927.3(GUF1):c.1250T>A (p.Leu417Gln)	GUF1 (L417Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 40 +2 more	GConflicting classifications of pathogenicity