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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIK1
(R385*)
Single nucleotide variant
(nonsense)
Language disorder
+1 more
GLikely pathogenic
OTUD7A
(L233F)
Single nucleotide variant
(missense variant)
Language disorder
+3 more
GPathogenic
ADCY5
(R217fs)
Deletion
(frameshift variant)
Parkinsonian disorder
+2 more
GUncertain significance
KMT2A
(R878Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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