"Revvity Omics, Revvity"[submitter] AND "MTOR"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 862510	NM_004958.4(MTOR):c.6871G>A (p.Val2291Ile)	MTOR (V2291I)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1054057	NM_004958.4(MTOR):c.6169A>G (p.Met2057Val)	MTOR (M1641V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 853299	NM_004958.4(MTOR):c.5060A>G (p.His1687Arg)	MTOR (H1687R)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2433828	NM_004958.4(MTOR):c.3074G>C (p.Ser1025Thr)	MTOR (S1025T +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2433825	NM_004958.4(MTOR):c.2295C>A (p.Pro765=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2689468	NM_004958.4(MTOR):c.2110G>A (p.Val704Met)	MTOR (V288M +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2433826	NM_004958.4(MTOR):c.2083G>T (p.Ala695Ser)	MTOR (A279S +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2433827	NM_004958.4(MTOR):c.1559T>C (p.Val520Ala)	MTOR (V104A +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1391138	NM_004958.4(MTOR):c.920G>C (p.Gly307Ala)	MTOR (G307A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2433824	NM_004958.4(MTOR):c.729G>T (p.Lys243Asn)	MTOR (K243N)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance