Related gene-specific medical variations for Gene (Select 79934) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336632	NM_024876.4(COQ8B):c.566G>A (p.Trp189Ter)	COQ8B (W148* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GLikely pathogenic
Select item 3242714	NC_000019.9:g.(?_41211231)_(41217328_?)del	COQ8B	Deletion	not provided	GLikely pathogenic
Select item 3242713	NC_000019.9:g.(?_41205952)_(41211372_?)dup	COQ8B	Duplication	not provided	GLikely pathogenic
Select item 2688856	NM_024876.4(COQ8B):c.1459G>T (p.Ala487Ser)	COQ8B (A446S +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GUncertain significance

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