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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEPDC5
(Y163C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NEXMIF
(R218*)
Single nucleotide variant
(nonsense)
Continuous spike and waves during slow sleep
+2 more
GPathogenic
KCNQ2
(P777S +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
TUBA1A
(A174V +1 more)
Single nucleotide variant
(missense variant)
Continuous spike and waves during slow sleep
+5 more
GConflicting classifications of pathogenicity
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