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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYRK1A
(R231* +2 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
DYRK1A
(R263* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
DYRK1A
(S346F +2 more)
Single nucleotide variant
(missense variant)
DYRK1A-related intellectual disability syndrome
GLikely pathogenic
DYRK1A
Single nucleotide variant
(intron variant)
DYRK1A-related intellectual disability syndrome
GUncertain significance
DYRK1A
Single nucleotide variant
(splice acceptor variant)
DYRK1A-related intellectual disability syndrome
GPathogenic
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