"Baylor Genetics"[submitter] AND "DARS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033469	NM_018122.5(DARS2):c.57A>C (p.Arg19Ser)	DARS2 (R19S)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 3237491	NM_018122.5(DARS2):c.65C>T (p.Thr22Ile)	DARS2 (T22I)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 1188834	NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	DARS2 (R58G)	Single nucleotide variant (missense variant)	not provided +1 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 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic

ClinVar