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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAOK1
(R435*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic/Likely pathogenic
NSD2
(E1099K)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+14 more
GConflicting classifications of pathogenicity
GNS
(P532A)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
+22 more
GUncertain significance
DPYD
Single nucleotide variant
(splice donor variant)
tegafur response - Toxicity
+3 more
Gdrug response
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