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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNKSR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CNKSR2
Single nucleotide variant
(intron variant)
CNKSR2-related disorder
GLikely benign
CNKSR2
Single nucleotide variant
(synonymous variant)
CNKSR2-related disorder
GLikely benign
CNKSR2
Single nucleotide variant
(synonymous variant)
CNKSR2-related disorder
GLikely benign
CNKSR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CNKSR2
(E807del +3 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+1 more
GBenign/Likely benign
CNKSR2
(G816R +3 more)
Single nucleotide variant
(missense variant)
CNKSR2-related disorder
GUncertain significance
CNKSR2
(T1004A +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, syndromic, Houge type
+1 more
GUncertain significance
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