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Links from MedGen

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OGT
(T560I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(S500N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GLikely pathogenic
OGT
(T800S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
+1 more
GUncertain significance
OGT
(L37R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(R443G +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(D730N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(A942V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(R555Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(K898R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
Single nucleotide variant
(stop lost)
Intellectual disability, X-linked 106
GLikely pathogenic
OGT
(K1000R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
+2 more
GUncertain significance
OGT
(C189Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(A300V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(N888S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(Q824R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(E140D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(P869L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(R627C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
+1 more
GUncertain significance
OGT
(E329G +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GPathogenic
OGT
(A309T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GUncertain significance
OGT
(L244F +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GPathogenic
OGT
(N638Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GPathogenic
OGT
(T932I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
OGT
(R107C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
+1 more
GUncertain significance
OGT
(G103R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
+1 more
GConflicting classifications of pathogenicity
OGT
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 106
GPathogenic
OGT
(R284P +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GPathogenic
OGT
(L254F +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 106
GPathogenic
OGT
(A249T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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