"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MTOR"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1599387	NM_004958.4(MTOR):c.6810+12G>A	MTOR	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +2 more	GBenign/Likely benign
Select item 408296	NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile)	MTOR (V1885I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1484219	NM_004958.4(MTOR):c.4570+5A>G	MTOR	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1809681	NM_004958.4(MTOR):c.2751_2752del (p.Ser918fs)	MTOR (S502fs +1 more)	Deletion (frameshift variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 414894	NM_004958.4(MTOR):c.2649+9C>T	MTOR	Single nucleotide variant (intron variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GBenign/Likely benign
Select item 1028831	NM_004958.4(MTOR):c.2579A>T (p.Lys860Met)	MTOR (K444M +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GUncertain significance
Select item 1063287	NM_004958.4(MTOR):c.2331+6A>G	MTOR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1047242	NM_004958.4(MTOR):c.2045G>A (p.Arg682His)	MTOR (R266H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 408307	NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser)	MTOR (N382S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 699072	NM_004958.4(MTOR):c.348C>T (p.Pro116=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GBenign/Likely benign