"Clinical Genetics, Academic Medical Center"[submitter] AND "MTOR"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 695429	NM_004958.4(MTOR):c.7455C>T (p.Asp2485=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1283039	NM_004958.4(MTOR):c.5812-19G>A	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257315	NM_004958.4(MTOR):c.5811+13G>A	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380311	NM_004958.4(MTOR):c.5553C>T (p.Ser1851=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GBenign
Select item 516654	NM_004958.4(MTOR):c.4731G>A (p.Ala1577=)	MTOR, MTOR-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 697627	NM_004958.4(MTOR):c.3630T>C (p.Asp1210=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1170840	NM_004958.4(MTOR):c.2997C>T (p.Asn999=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GBenign
Select item 696143	NM_004958.4(MTOR):c.2070G>A (p.Ala690=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 695657	NM_004958.4(MTOR):c.1830C>T (p.Phe610=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 516653	NM_004958.4(MTOR):c.1437T>C (p.Asp479=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GBenign
Select item 695385	NM_004958.4(MTOR):c.510G>C (p.Leu170=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign