"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DNA2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 429200	NM_001080449.3(DNA2):c.2697+13del	DNA2	Deletion (intron variant)	not provided +2 more	GBenign
Select item 257343	NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu)	DNA2 (F810L)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 8 +3 more	GBenign/Likely benign
Select item 385006	NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser)	DNA2 (N550S)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 8 +3 more	GBenign/Likely benign
Select item 516414	NM_001080449.3(DNA2):c.1057+19del	DNA2	Deletion (intron variant)	not provided +2 more	GBenign
Select item 381847	NM_001080449.3(DNA2):c.888G>A (p.Pro296=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 8 +3 more	GBenign/Likely benign
Select item 559218	NM_001080449.3(DNA2):c.720-4del	DNA2	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 382984	NM_001080449.3(DNA2):c.295T>C (p.Leu99=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	DNA2-related condition +4 more	GBenign/Likely benign

ClinVar