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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT5
Single nucleotide variant
(synonymous variant +1 more)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
KAT5, RNASEH2C
(M375I +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
KAT5
(Q225H +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KAT5
(C223S +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
KAT5
(P142fs +1 more)
Deletion
(frameshift variant +1 more)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
KAT5
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
KAT5, RNASEH2C
(E372K +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
KAT5
Deletion
(splice donor variant)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
RNASEH2C, KAT5
(S413A +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GPathogenic
KAT5
(C369S +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GPathogenic
KAT5
(R53H +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GPathogenic
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