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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYRK1A
(R205* +2 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic
DYRK1A
Single nucleotide variant
(splice acceptor variant)
DYRK1A-related intellectual disability syndrome
GLikely pathogenic
DYRK1A
(S619fs +2 more)
Indel
(frameshift variant +1 more)
DYRK1A-related intellectual disability syndrome
GPathogenic
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