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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZEB2
(R921* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic
BTD
(Q436H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SYNE1
(L6254P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNQ3
(R230H +1 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 2
+4 more
GPathogenic/Likely pathogenic
STXBP1
(R367* +3 more)
Single nucleotide variant
(nonsense)
Cerebellar ataxia
+7 more
GPathogenic
ARF3
(D93N)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+17 more
GPathogenic/Likely pathogenic
HEXA
(Y427fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
CBS
(I278T +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+6 more
GPathogenic
SHANK3
(R1255fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+4 more
GPathogenic
DDX3X
(V327I +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 102
+2 more
GUncertain significance
MECP2
(R306C +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
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