"Fulgent Genetics, Fulgent Genetics"[submitter] AND "POLR3H"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562210	NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp)	ACO2, POLR3H (R684W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 214022	NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln)	ACO2, POLR3H (R684Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile cerebellar-retinal degeneration +3 more	GUncertain significance