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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTOR, MTOR-AS1
(I1614T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
MTOR, MTOR-AS1
(R1196Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MTOR, MTOR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
MTOR-related disorder
GLikely benign
MTOR, MTOR-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MTOR, MTOR-AS1
Duplication
(intron variant)
MTOR-related disorder
+1 more
GLikely benign
MTOR, MTOR-AS1
(M1119I +1 more)
Single nucleotide variant
(missense variant)
MTOR-related disorder
GUncertain significance
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