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

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Items: 17

	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)	not provided +1 more	GLikely benign
Select item 2672511	NM_014515.7(CNOT2):c.145A>G (p.Met49Val)	CNOT2 (M29V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 3146605	NM_014515.7(CNOT2):c.158G>A (p.Arg53Gln)	CNOT2 (R33Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3146606	NM_014515.7(CNOT2):c.253C>G (p.Pro85Ala)	CNOT2 (P65A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209448	NM_014515.7(CNOT2):c.320C>T (p.Pro107Leu)	CNOT2 (P107L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268205	NM_014515.7(CNOT2):c.328G>A (p.Val110Ile)	CNOT2 (V110I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268208	NM_014515.7(CNOT2):c.446T>C (p.Ile149Thr)	CNOT2 (I108T +4 more)	Single nucleotide variant (missense variant +2 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 3146607	NM_014515.7(CNOT2):c.683C>A (p.Ser228Ter)	CNOT2 (S187* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
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 3268207	NM_014515.7(CNOT2):c.711C>G (p.Asn237Lys)	CNOT2 (N196K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233152	NM_014515.7(CNOT2):c.721G>A (p.Gly241Arg)	CNOT2 (G241R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3146608	NM_014515.7(CNOT2):c.750C>A (p.Asn250Lys)	CNOT2 (N230K +5 more)	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 +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3146609	NM_014515.7(CNOT2):c.928T>G (p.Ser310Ala)	CNOT2 (S290A +5 more)	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 +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268206	NM_014515.7(CNOT2):c.1343A>G (p.Tyr448Cys)	CNOT2 (Y434C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance