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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYRK1A
(Y104* +2 more)
Single nucleotide variant
(nonsense)
DYRK1A-related intellectual disability syndrome
+1 more
GPathogenic
DYRK1A
(Y205* +2 more)
Duplication
(nonsense)
DYRK1A-related intellectual disability syndrome
GPathogenic
DYRK1A
(P343fs +2 more)
Deletion
(frameshift variant)
DYRK1A-related intellectual disability syndrome
GPathogenic
DYRK1A
(P380fs +2 more)
Duplication
(frameshift variant)
DYRK1A-related intellectual disability syndrome
GLikely pathogenic
DYRK1A
(R467Q +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+2 more
GPathogenic/Likely pathogenic
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