"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ENTPD5"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1674753	NM_182476.3(COQ6):c.366C>T (p.Asp122=)	ENTPD5, COQ6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2644364	NM_182476.3(COQ6):c.591C>T (p.Ser197=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 788803	NM_182476.3(COQ6):c.613-5T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2644365	NM_182476.3(COQ6):c.741C>T (p.Ala247=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1591624	NM_182476.3(COQ6):c.1002C>T (p.Ser334=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 214232	NM_182476.3(COQ6):c.1184C>T (p.Thr395Met)	COQ6, ENTPD5 (T370M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign

ClinVar