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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK5RAP2
(Y1734C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CDK5RAP2
(R1558* +1 more)
Single nucleotide variant
(nonsense +1 more)
Microcephaly 3, primary, autosomal recessive
GPathogenic
CDK5RAP2
(L1312F +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
CDK5RAP2
(N1519S +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
GUncertain significance
CDK5RAP2
(S1446R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CDK5RAP2
(R1408C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CDK5RAP2
(Q1162R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CDK5RAP2
(N930Y)
Single nucleotide variant
(missense variant +2 more)
Microcephaly 3, primary, autosomal recessive
GUncertain significance
CDK5RAP2
(H763R)
Single nucleotide variant
(missense variant +2 more)
Microcephaly 3, primary, autosomal recessive
GUncertain significance
CDK5RAP2
(R427*)
Single nucleotide variant
(nonsense +1 more)
Microcephaly 3, primary, autosomal recessive
GPathogenic
CDK5RAP2
(V254A)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
GUncertain significance
CDK5RAP2
(N65K)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
GUncertain significance
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