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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK5RAP2
(S1613N +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CDK5RAP2
(R1481* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CDK5RAP2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CDK5RAP2
(Q356*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
CDK5RAP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary Microcephaly, Recessive
+3 more
GBenign
CDK5RAP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary Microcephaly, Recessive
+3 more
GBenign
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