"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DARS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1322189	NM_018122.5(DARS2):c.128-1G>T	DARS2	Single nucleotide variant (splice acceptor variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GLikely pathogenic
Select item 418156	NM_018122.5(DARS2):c.228-10dup	DARS2	Duplication (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GBenign/Likely benign
Select item 449386	NM_018122.5(DARS2):c.396+2T>G	DARS2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1062	NM_018122.5(DARS2):c.492+2T>C	DARS2	Single nucleotide variant (splice donor variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +15 more	GPathogenic
Select item 137065	NM_018122.5(DARS2):c.663+8T>C	DARS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 137066	NM_018122.5(DARS2):c.1642C>A (p.Leu548Met)	DARS2 (L548M +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GBenign/Likely benign

ClinVar