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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCDN
(R445W +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GUncertain significance
NCDN
(F374L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GUncertain significance
NCDN
(R406H +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GUncertain significance
NCDN
(F477L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GUncertain significance
NCDN
(L26F +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GUncertain significance
NCDN
(G147S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
+1 more
GUncertain significance
NCDN
(P199S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GLikely benign
NCDN
(R56fs +1 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with infantile epileptic spasms
GLikely pathogenic
NCDN
(R70S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GUncertain significance
NCDN
(E314fs +1 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with infantile epileptic spasms
GLikely pathogenic
NCDN
(P635L +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia
+2 more
GLikely pathogenic
NCDN
(W481R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+1 more
GLikely pathogenic
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