"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "OTUD5"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2660489	NM_001136157.2(OTUD5):c.1689A>G (p.Pro563=)	OTUD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660490	NM_001136157.2(OTUD5):c.1185G>A (p.Glu395=)	OTUD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660491	NM_001136157.2(OTUD5):c.582C>T (p.Ala194=)	OTUD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2359989	NM_001136157.2(OTUD5):c.314G>C (p.Gly105Ala)	LOC130068266, OTUD5 (G105A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 871498	NM_001136157.2(OTUD5):c.59C>A (p.Pro20Gln)	OTUD5 (P20Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2524659	NM_001136157.2(OTUD5):c.58C>A (p.Pro20Thr)	OTUD5 (P20T)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance

ClinVar