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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A1-AS1, SLC6A1
(Y140C +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
+1 more
GPathogenic/Likely pathogenic
SLC6A1
(G112V +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely pathogenic
SLC6A1
(F116del +2 more)
Microsatellite
(inframe_deletion)
Intellectual disability
+2 more
GPathogenic/Likely pathogenic
SLC6A1
(Q356* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability
+1 more
GPathogenic
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