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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A
(R542Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Severe myoclonic epilepsy in infancy
+5 more
GConflicting classifications of pathogenicity
BTD
(Q436H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806659
(R474* +1 more)
Single nucleotide variant
(nonsense)
Medulloblastoma
+11 more
GPathogenic
PURA
(F271del)
Deletion
(inframe_deletion)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
+1 more
GPathogenic
KCNQ5, KCNQ5-DT
+1 more
(R3S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ACTL6B
(G343R)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
SET
(R44fs +3 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 58
+4 more
GPathogenic/Likely pathogenic
KMT2A
(R2656* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability
+2 more
GPathogenic
APOLD1, BCL2L14
+19 more
Copy number loss
Intellectual disability
GPathogenic
AP4S1
Microsatellite
(splice donor variant)
Neurodevelopmental disorder
+5 more
GPathogenic
PACS2
(E209K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
GRIN2A
Deletion
(nonsense)
Landau-Kleffner syndrome
+1 more
GConflicting classifications of pathogenicity
CHD3
(R1044W +1 more)
Single nucleotide variant
(missense variant)
Snijders Blok-Campeau syndrome
+1 more
GPathogenic/Likely pathogenic
SMAD4
(I500V)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+9 more
GPathogenic
CBS
(I278T +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+7 more
GPathogenic
DDX3X
(R125* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
ATP7A
(N1358S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MECP2
(R306C +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
MECP2
(R168* +2 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+8 more
GPathogenic
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