"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "COQ4"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380532	NM_016035.5(COQ4):c.357G>T (p.Pro119=)	COQ4 (R87L)	Single nucleotide variant (missense variant +1 more)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GLikely benign
Select item 488487	NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)	COQ4 (F146C)	Single nucleotide variant (missense variant +1 more)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1695266	NM_016035.5(COQ4):c.456A>T (p.Leu152=)	COQ4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 380493	NM_016035.5(COQ4):c.483G>C (p.Glu161Asp)	COQ4 (E161D)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 382106	NM_016035.5(COQ4):c.614G>A (p.Arg205Gln)	COQ4 (R205Q)	Single nucleotide variant (missense variant +1 more)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +2 more	GBenign
Select item 872093	NM_016035.5(COQ4):c.676G>A (p.Gly226Arg)	COQ4 (G226R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2579072	NM_016035.5(COQ4):c.779A>G (p.His260Arg)	COQ4 (H260R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance

ClinVar