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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCNK
(R48Q)
Single nucleotide variant
(missense variant)
CCNK-related disorder
GUncertain significance
CCNK
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with hypertelorism and distinctive facies
+2 more
GBenign
CCDC85C, CCNK
Single nucleotide variant
(3 prime UTR variant +1 more)
CCNK-related disorder
GBenign
CCDC85C, CCNK
Single nucleotide variant
(3 prime UTR variant +1 more)
CCNK-related disorder
GLikely benign
CCDC85C, CCNK
Single nucleotide variant
(3 prime UTR variant +1 more)
CCNK-related disorder
GLikely benign
CCDC85C, CCNK
Single nucleotide variant
(3 prime UTR variant +1 more)
CCNK-related disorder
GLikely benign
CCDC85C, CCNK
(H476fs)
Deletion
(3 prime UTR variant +1 more)
CCNK-related disorder
GUncertain significance
CCDC85C, CCNK
Single nucleotide variant
(3 prime UTR variant +1 more)
CCNK-related disorder
GBenign
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