"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "COQ2"[gene - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384976	NM_001358921.2(COQ2):c.1044C>T (p.Val348=)	COQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 377741	NM_001358921.2(COQ2):c.651G>A (p.Ala217=)	COQ2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 379111	NM_001358921.2(COQ2):c.453T>C (p.Ala151=)	COQ2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 136973	NM_001358921.2(COQ2):c.437A>G (p.Asn146Ser)	COQ2 (N196S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 136972	NM_001358921.2(COQ2):c.424A>G (p.Thr142Ala)	COQ2 (T192A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1897906	NM_001358921.2(COQ2):c.333G>T (p.Met111Ile)	COQ2 (M111I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013492	NM_001358921.2(COQ2):c.246G>A (p.Lys82=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559292	NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)	COQ2, LOC112997540 (S107T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 260677	NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	Multiple system atrophy 1, susceptibility to +3 more	GBenign/Likely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic