"Illumina Laboratory Services, Illumina"[submitter] AND "BOLA3"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337054	NM_212552.3(BOLA3):c.*190G>A	BOLA3, TET3	Single nucleotide variant (3 prime UTR variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 898379	NM_212552.3(BOLA3):c.*134T>C	BOLA3, TET3	Single nucleotide variant (3 prime UTR variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 337055	NM_212552.3(BOLA3):c.*31T>C	BOLA3 (L89S)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 214170	NM_212552.3(BOLA3):c.319C>T (p.Arg107Cys)	BOLA3 (R107C +1 more)	Single nucleotide variant (missense variant)	BOLA3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 390067	NM_212552.3(BOLA3):c.258+9A>C	BOLA3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337056	NM_212552.3(BOLA3):c.256C>G (p.Gln86Glu)	BOLA3 (Q86E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 337057	NM_212552.3(BOLA3):c.181G>A (p.Ala61Thr)	BOLA3 (A61T)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 337058	NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln)	BOLA3 (R46Q)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 895391	NM_212552.3(BOLA3):c.21C>T (p.Ala7=)	BOLA3	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 895392	NM_212552.3(BOLA3):c.19G>A (p.Ala7Thr)	BOLA3 (A7T)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 337059	NM_212552.3(BOLA3):c.-8G>A	BOLA3	Single nucleotide variant (5 prime UTR variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 337060	NM_212552.3(BOLA3):c.-35C>T	BOLA3	Single nucleotide variant (5 prime UTR variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance