"Ambry Genetics"[submitter] AND "COQ8B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1897048	NM_024876.4(COQ8B):c.1579G>A (p.Ala527Thr)	COQ8B (A486T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 521659	NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter)	COQ8B (W520* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3268991	NM_024876.4(COQ8B):c.1435T>C (p.Cys479Arg)	COQ8B (C438R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 521658	NM_024876.4(COQ8B):c.1037T>G (p.Ile346Ser)	COQ8B (I346S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2043812	NM_024876.4(COQ8B):c.863G>A (p.Arg288His)	COQ8B (R288H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 91845	NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)	COQ8B (R178W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9 +2 more	GPathogenic/Likely pathogenic
Select item 1186821	NM_024876.4(COQ8B):c.298G>T (p.Val100Leu)	COQ8B (V100L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

ClinVar