ClinVar for MedGen (Select 42280) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802158	NM_018122.5(DARS2):c.[228-10C>A];[492+2T>C]			Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 1062	NM_018122.5(DARS2):c.492+2T>C	DARS2	Single nucleotide variant (splice donor variant)	Gait imbalance +15 more	GPathogenic
Select item 1057	NM_018122.5(DARS2):c.228-21_228-20delinsC	DARS2	Indel (intron variant)	not provided +14 more	GPathogenic

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