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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKL5, RS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CDKL5, RS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CDKL5, RS1
Single nucleotide variant
(synonymous variant +1 more)
RS1-related condition
+1 more
GConflicting classifications of pathogenicity
CDKL5, RS1
(R956H)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 2
+3 more
GBenign/Likely benign
CDKL5, RS1
Single nucleotide variant
(synonymous variant +1 more)
History of neurodevelopmental disorder
+4 more
GBenign
CDKL5, RS1
(V999M)
Single nucleotide variant
(missense variant +1 more)
History of neurodevelopmental disorder
+5 more
GBenign
CDKL5, RS1
Single nucleotide variant
(synonymous variant +1 more)
CDKL5 disorder
GBenign
CDKL5, RS1
(A1011T)
Single nucleotide variant
(missense variant +1 more)
CDKL5 disorder
GLikely benign
CDKL5, RS1
(A1025V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDKL5, RS1
Single nucleotide variant
(synonymous variant +1 more)
CDKL5 disorder
GBenign
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