"Revvity Omics, Revvity"[submitter] AND "GLE1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324481	NM_001003722.2(GLE1):c.428del (p.Gly143fs)	GLE1 (G143fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1324480	NM_001003722.2(GLE1):c.451C>T (p.Gln151Ter)	GLE1 (Q151*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 913605	NM_001003722.2(GLE1):c.1109C>T (p.Pro370Leu)	GLE1 (P370L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2432143	NM_001003722.2(GLE1):c.1211T>C (p.Phe404Ser)	GLE1 (F404S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6463	NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)	GLE1, LOC101929270 (R569H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324479	NM_001003722.2(GLE1):c.1964+2T>C	GLE1, LOC101929270 (Y656H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic

ClinVar