Related gene-specific medical variations for Gene (Select 115286) - ClinVar - NCBI

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Items: 5

	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 2691394	NC_000003.11:g.(?_66119284)_(66429348_?)dup	LRIG1, SLC25A26	Duplication	not specified	GUncertain significance
Select item 2423906	NC_000003.11:g.(?_65762253)_(66313823_?)dup	MAGI1, SLC25A26	Duplication	not provided	GUncertain significance
Select item 1316778	NM_173471.4(SLC25A26):c.-150G>T	LOC129936986, SLC25A26	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 673257	NM_173471.4(SLC25A26):c.-352T>A	LOC129936985, SLC25A26	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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