C5193016[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365130	NM_001003722.2(GLE1):c.-45T>C	GLE1	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 365131	NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)	GLE1 (D18E)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GConflicting classifications of pathogenicity