ClinVar for MedGen (Select 1802316) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42198	NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)	SLC25A1 (R180fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 42197	NM_005984.5(SLC25A1):c.821C>T (p.Ala274Val)	SLC25A1 (A274V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 42196	NM_005984.5(SLC25A1):c.389G>A (p.Gly130Asp)	SLC25A1 (G130D +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 42195	NM_005984.5(SLC25A1):c.845G>A (p.Arg282His)	SLC25A1 (R282H +2 more)	Single nucleotide variant (missense variant +1 more)	D,L-2-hydroxyglutaric aciduria	GPathogenic
Select item 42194	NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)	SLC25A1 (R282C +2 more)	Single nucleotide variant (missense variant +1 more)	2-hydroxyglutaric aciduria +2 more	GPathogenic/Likely pathogenic
Select item 42193	NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly)	SLC25A1 (R282G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic

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