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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A1
(R330*)
Single nucleotide variant
(nonsense)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GPathogenic
POGZ
(M332fs +4 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+5 more
GPathogenic
SCN2A
(G1355fs)
Deletion
(frameshift variant)
intellectual deficiency
GLikely pathogenic
SATB2
(K400E)
Single nucleotide variant
(missense variant)
intellectual deficiency
GUncertain significance
KLF7
(D264N +2 more)
Single nucleotide variant
(synonymous variant +2 more)
Neurodevelopmental disorder
+3 more
GPathogenic/Likely pathogenic
MEF2C
(T51I)
Single nucleotide variant
(missense variant)
Epilepsy
+1 more
GUncertain significance
ARID1B
(D2121fs +4 more)
Deletion
(frameshift variant)
dysmorphy
+1 more
GLikely pathogenic
CDK5RAP2
(R591Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KMT2A
(R1101*)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
+2 more
GPathogenic/Likely pathogenic
CACNA1C
(L614P +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
+2 more
GConflicting classifications of pathogenicity
GRIN2B
(M706V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely pathogenic
GRIN2B
(I695T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GRIN2B
(V558I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+3 more
GPathogenic/Likely pathogenic
STRADA
(S264R +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
ASXL3
(Y662*)
Single nucleotide variant
(nonsense)
Language retardation
+1 more
GLikely pathogenic
SMARCA4
(R1443Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ADNP
(R225*)
Single nucleotide variant
(nonsense)
Global developmental delay
+1 more
GPathogenic/Likely pathogenic
EP300
(A695fs +1 more)
Duplication
(frameshift variant)
intellectual deficiency
+1 more
GLikely pathogenic
DLG3
(S490N +2 more)
Single nucleotide variant
(missense variant)
Epilepsy
+1 more
GUncertain significance
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