ClinVar for MedGen (Select 1713890) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367058	NM_030631.4(SLC25A21):c.43C>T (p.Arg15Trp)	SLC25A21, SLC25A21-AS1 (R15W)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial DNA depletion syndrome 18	GUncertain significance
Select item 1687162	NM_030631.4(SLC25A21):c.532C>T (p.Arg178Ter)	SLC25A21 (R178*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 18	GPathogenic
Select item 1332982	NM_030631.4(SLC25A21):c.71-21_71-20insC	SLC25A21	Insertion (intron variant)	not provided +1 more	GBenign
Select item 1332981	NM_030631.4(SLC25A21):c.270+15C>T	SLC25A21	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1332980	NM_030631.4(SLC25A21):c.441A>G (p.Gln147=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 827876	NM_030631.4(SLC25A21):c.695A>G (p.Lys232Arg)	SLC25A21 (K232R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 18	GPathogenic

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