"Revvity Omics, Revvity"[submitter] AND "DNA2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440890	NM_001080449.3(DNA2):c.3084G>T (p.Lys1028Asn)	DNA2 (K1028N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 807407	NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu)	DNA2 (S640L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy +1 more	GLikely pathogenic
Select item 1417057	NM_001080449.3(DNA2):c.1687G>A (p.Asp563Asn)	DNA2 (D563N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2440891	NM_001080449.3(DNA2):c.1388A>G (p.Asn463Ser)	DNA2 (N463S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1324261	NM_001080449.3(DNA2):c.1220+2T>C	DNA2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2440892	NM_001080449.3(DNA2):c.731dup (p.Asn244fs)	DNA2 (N244fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 41477	NM_001080449.3(DNA2):c.593G>A (p.Arg198His)	DNA2 (R198H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1322749	NM_001080449.3(DNA2):c.258-1G>T	DNA2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance

ClinVar