ClinVar for MedGen (Select 137898) - ClinVar

	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 1683500	NM_000287.4(PEX6):c.1680C>G (p.Pro560=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly +4 more	GUncertain significance
Select item 523471	NM_004366.6(CLCN2):c.740G>T (p.Gly247Val)	CLCN2 (G247V +1 more)	Single nucleotide variant (missense variant)	Bipolar affective disorder +3 more	GUncertain significance
Select item 21522	NM_015166.4(MLC1):c.178-10T>A	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1062	NM_018122.5(DARS2):c.492+2T>C	DARS2	Single nucleotide variant (splice donor variant)	Gait ataxia +15 more	GPathogenic
Select item 1057	NM_018122.5(DARS2):c.228-21_228-20delinsC	DARS2	Indel (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +14 more	GPathogenic

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