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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK5RAP2
(Q1555H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
CDK5RAP2
(V1540L +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary Microcephaly, Recessive
+3 more
GBenign
CDK5RAP2
(E1516G +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
Gnot provided
CDK5RAP2
(S1368F +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
Gnot provided
CDK5RAP2
Single nucleotide variant
(intron variant)
Microcephaly 3, primary, autosomal recessive
GPathogenic
CDK5RAP2
(N1330I +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
Gnot provided
CDK5RAP2
(R1045T +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary Microcephaly, Recessive
+2 more
GBenign/Likely benign
CDK5RAP2
(G1022E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
CDK5RAP2
(G867R)
Single nucleotide variant
(missense variant +2 more)
Microcephaly 3, primary, autosomal recessive
Gnot provided
CDK5RAP2
(L571P)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
CDK5RAP2
(E289Q)
Single nucleotide variant
(missense variant +1 more)
Primary Microcephaly, Recessive
+3 more
GBenign
CDK5RAP2
(S255L)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
GUncertain significance
CDK5RAP2
(A190V)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
Gnot provided
CDK5RAP2
(A183P)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
GUncertain significance
CDK5RAP2
(F182L)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
Gnot provided
CDK5RAP2
(A137S)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
Gnot provided
CDK5RAP2
(Y82*)
Single nucleotide variant
(nonsense +1 more)
Microcephaly 3, primary, autosomal recessive
GPathogenic
CDK5RAP2
(D31N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Microcephaly 3, primary, autosomal recessive
Gnot provided
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