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Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TXLNA, UBXN11
+1145 more
Copy number gain
See cases
GPathogenic
ARTN, ATP6V0B
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
AGO1, AGO3
+70 more
Copy number loss
See cases
GLikely pathogenic
NCDN
(L26F +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GUncertain significance
NCDN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NCDN
(I51L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCDN
(R56fs +1 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with infantile epileptic spasms
GLikely pathogenic
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCDN
(R70S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GUncertain significance
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCDN
(R87Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCDN
(R123P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCDN
(R123Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(R131C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(G147S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
+1 more
GUncertain significance
NCDN
(G172S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(E215G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(P199S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GLikely benign
NCDN
(V204M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCDN
(V204L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(S226C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCDN
(R242W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(K283R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(R270H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCDN
(G293S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(T308M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NCDN
(T310M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(E314fs +1 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with infantile epileptic spasms
GLikely pathogenic
NCDN
(T318S +1 more)
Single nucleotide variant
(missense variant)
NCDN-related condition
GUncertain significance
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCDN
(A357S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
(E416Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+2 more
GLikely pathogenic
NCDN
(T433I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NCDN
(P435R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
Single nucleotide variant
(synonymous variant)
NCDN-related condition
GLikely benign
NCDN
(R445W +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GUncertain significance
NCDN
(R461Q +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia
+2 more
GLikely pathogenic
NCDN
(I463M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(F477L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with infantile epileptic spasms
GUncertain significance
NCDN
(W481R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+1 more
GLikely pathogenic
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCDN
(Q543E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
NCDN
(R593W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
(G597S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCDN
(P624L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCDN
(P635L +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia
+2 more
GLikely pathogenic
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCDN
(A657T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCDN
(N660S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NCDN
(T696M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NCDN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADPRS, AGO1
+32 more
Copy number loss
not provided
GPathogenic
ADPRS, AGO1
+12 more
Copy number gain
not specified
GUncertain significance
AGO1, AGO3
+7 more
Copy number loss
not specified
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
DLGAP3, GJA4
+13 more
Copy number gain
not provided
GUncertain significance
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
YARS1, ZBTB8A
+41 more
Copy number loss
not provided
GPathogenic
CLSPN, COL8A2
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
NID1, NIPAL3
+2014 more
Copy number gain
See cases
GPathogenic
ADPRS, AGO1
+31 more
Copy number loss
See cases
GPathogenic
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