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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLITRK2
(E210D)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 111
GUncertain significance
SLITRK2
(E829*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder, X-linked 111
GUncertain significance
SLITRK2
(E210K)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 111
+1 more
GConflicting classifications of pathogenicity
SLITRK2
(V511M)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 111
+1 more
GConflicting classifications of pathogenicity
SLITRK2
(T312A)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 111
+1 more
GPathogenic/Likely pathogenic
SLITRK2
(R426C)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 111
+1 more
GPathogenic/Likely pathogenic
SLITRK2
(P374R)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 111
+1 more
GPathogenic/Likely pathogenic
SLITRK2
(E461*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder, X-linked 111
+1 more
GPathogenic/Likely pathogenic
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