"Ambry Genetics"[submitter] AND "CNOT2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1298550	NM_014515.7(CNOT2):c.95G>A (p.Gly32Glu)	CNOT2 (G32E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2209448	NM_014515.7(CNOT2):c.320C>T (p.Pro107Leu)	CNOT2 (P107L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510432	NM_014515.7(CNOT2):c.548G>A (p.Arg183Gln)	CNOT2 (R142Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1049790	NM_014515.7(CNOT2):c.710A>G (p.Asn237Ser)	CNOT2 (N237S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2233152	NM_014515.7(CNOT2):c.721G>A (p.Gly241Arg)	CNOT2 (G241R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321284	NM_014515.7(CNOT2):c.797C>G (p.Ala266Gly)	CNOT2 (A266G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322579	NM_014515.7(CNOT2):c.1148C>A (p.Thr383Lys)	CNOT2 (T383K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar