ClinVar for MedGen (Select 412535) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285451	NM_005984.5(SLC25A1):c.578C>T (p.Ser193Leu)	SLC25A1 (S193L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1034233	NM_005984.5(SLC25A1):c.889T>C (p.Tyr297His)	SLC25A1 (Y297H +2 more)	Single nucleotide variant (missense variant +1 more)	2-hydroxyglutaric aciduria	GUncertain significance
Select item 1034232	NM_005984.5(SLC25A1):c.638A>G (p.Asn213Ser)	SLC25A1 (N220S +2 more)	Single nucleotide variant (missense variant +1 more)	2-hydroxyglutaric aciduria +1 more	GUncertain significance
Select item 1034231	NM_005984.5(SLC25A1):c.392C>T (p.Ala131Val)	SLC25A1 (A28V +2 more)	Single nucleotide variant (missense variant)	2-hydroxyglutaric aciduria	GUncertain significance
Select item 1030984	NM_005984.5(SLC25A1):c.928A>G (p.Thr310Ala)	SLC25A1 (T317A +2 more)	Single nucleotide variant (missense variant +1 more)	2-hydroxyglutaric aciduria	GUncertain significance
Select item 689643	NM_005984.5(SLC25A1):c.821+1G>A	SLC25A1	Single nucleotide variant (splice donor variant)	2-hydroxyglutaric aciduria	GPathogenic
Select item 42198	NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)	SLC25A1 (R180fs +2 more)	Deletion (frameshift variant +1 more)	D,L-2-hydroxyglutaric aciduria +2 more	GPathogenic/Likely pathogenic
Select item 42194	NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)	SLC25A1 (R282C +2 more)	Single nucleotide variant (missense variant +1 more)	D,L-2-hydroxyglutaric aciduria +2 more	GPathogenic/Likely pathogenic