"PreventionGenetics, part of Exact Sciences"[submitter] AND "COQ4"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 786827	NM_016035.5(COQ4):c.81C>G (p.Leu27=)	COQ4	Single nucleotide variant (synonymous variant)	COQ4-related disorder +1 more	GLikely benign
Select item 3048439	NM_016035.5(COQ4):c.198C>A (p.Arg66=)	COQ4	Single nucleotide variant (synonymous variant)	COQ4-related disorder	GLikely benign
Select item 568408	NM_016035.5(COQ4):c.402C>T (p.Asn134=)	COQ4	Single nucleotide variant (3 prime UTR variant +1 more)	COQ4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 379740	NM_016035.5(COQ4):c.402+1G>C	COQ4	Single nucleotide variant (splice donor variant)	COQ4-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 542774	NM_016035.5(COQ4):c.580A>G (p.Met194Val)	COQ4 (M194V)	Single nucleotide variant (missense variant +1 more)	COQ4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 382106	NM_016035.5(COQ4):c.614G>A (p.Arg205Gln)	COQ4 (R205Q)	Single nucleotide variant (missense variant +1 more)	COQ4-related disorder +2 more	GBenign
Select item 1566576	NM_016035.5(COQ4):c.660A>T (p.Pro220=)	COQ4	Single nucleotide variant (3 prime UTR variant +1 more)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GLikely benign
Select item 189201	NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)	COQ4 (R240C)	Single nucleotide variant (3 prime UTR variant +1 more)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +4 more	GPathogenic/Likely pathogenic