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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUDT2
(E137del)
Microsatellite
(inframe_deletion)
Intellectual developmental disorder with or without peripheral neuropathy
GUncertain significance
NUDT2
(E58D)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with or without peripheral neuropathy
GLikely pathogenic
NUDT2
(R12*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with or without peripheral neuropathy
GLikely pathogenic
NUDT2
(A63fs)
Deletion
(frameshift variant)
NUDT2-associated condition
+3 more
GPathogenic/Likely pathogenic
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