ClinVar for MedGen (Select 1800504) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064904	NM_001379210.1(SLC25A26):c.727C>T (p.Pro243Ser)	SLC25A26 (P140S +3 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 28	GUncertain significance
Select item 2637850	NM_001379210.1(SLC25A26):c.191-1G>T	SLC25A26	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 28	GLikely pathogenic
Select item 1703519	NM_001379210.1(SLC25A26):c.554G>A (p.Cys185Tyr)	SLC25A26 (C170Y +3 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 28	GUncertain significance
Select item 1703515	NM_001379210.1(SLC25A26):c.719G>T (p.Gly240Val)	SLC25A26 (G137V +3 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 28	GUncertain significance
Select item 1288427	NM_001379210.1(SLC25A26):c.*3C>A	SLC25A26	Single nucleotide variant (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency 28 +1 more	GBenign
Select item 683936	NM_001379210.1(SLC25A26):c.623C>T (p.Thr208Met)	SLC25A26 (T120M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 683906	NM_001379210.1(SLC25A26):c.498+13G>A	SLC25A26	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 683883	NM_001379210.1(SLC25A26):c.122G>A (p.Ser41Asn)	SLC25A26 (S41N)	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation deficiency 28 +1 more	GBenign
Select item 222009	NM_001379210.1(SLC25A26):c.33+1G>A	SLC25A26	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 222008	NM_001379210.1(SLC25A26):c.596C>T (p.Pro199Leu)	SLC25A26 (P199L +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 28	GPathogenic
Select item 222007	NM_001379210.1(SLC25A26):c.305C>T (p.Ala102Val)	SLC25A26 (A102V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 28	GPathogenic
Select item 222006	NM_001379210.1(SLC25A26):c.443T>G (p.Val148Gly)	SLC25A26 (V148G +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 28	GPathogenic