"PreventionGenetics, part of Exact Sciences"[submitter] AND "POLR3H"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257429	NM_001018050.4(POLR3H):c.*2814A>G	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1481545	NM_001098.3(ACO2):c.1998C>T (p.Gly666=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2870327	NM_001098.3(ACO2):c.2052G>A (p.Arg684=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	ACO2-related disorder +1 more	GLikely benign
Select item 1596175	NM_001098.3(ACO2):c.2113C>T (p.Leu705=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 727506	NM_001098.3(ACO2):c.2278G>A (p.Glu760Lys)	ACO2, POLR3H (E760K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3061339	NM_001098.3(ACO2):c.2284C>T (p.Gln762Ter)	ACO2, POLR3H (Q762*)	Single nucleotide variant (3 prime UTR variant +1 more)	ACO2-related disorder	GUncertain significance
Select item 2167611	NM_001098.3(ACO2):c.2334G>C (p.Leu778=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign

ClinVar