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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP135
(K608N)
Single nucleotide variant
(missense variant)
Microcephaly 8, primary, autosomal recessive
GUncertain significance
CEP135
(H661fs)
Microsatellite
(frameshift variant)
Microcephaly 8, primary, autosomal recessive
GLikely pathogenic
CEP135
(K1043fs)
Deletion
(frameshift variant)
Microcephaly 8, primary, autosomal recessive
GLikely pathogenic
CEP135
(N1040fs)
Deletion
(frameshift variant)
Microcephaly 8, primary, autosomal recessive
GPathogenic
CEP135
(E1034fs)
Deletion
(frameshift variant)
Microcephaly 8, primary, autosomal recessive
GLikely pathogenic
CEP135
(D192V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CEP135
(R77S)
Single nucleotide variant
(missense variant)
Microcephaly 8, primary, autosomal recessive
GUncertain significance
CEP135
(R1116*)
Single nucleotide variant
(nonsense)
Microcephaly 8, primary, autosomal recessive
GUncertain significance
CEP135
(K459fs)
Microsatellite
(frameshift variant)
Microcephaly 8, primary, autosomal recessive
GPathogenic
CEP135
(R955*)
Single nucleotide variant
(nonsense)
Microcephaly 8, primary, autosomal recessive
GPathogenic
CEP135
(R908*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CEP135
(R797C)
Single nucleotide variant
(missense variant)
Microcephaly 8, primary, autosomal recessive
GLikely benign
CEP135
Single nucleotide variant
(splice donor variant)
Microcephaly 8, primary, autosomal recessive
GLikely pathogenic
CEP135
(K1071*)
Single nucleotide variant
(nonsense)
Microcephaly 8, primary, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
CEP135
(M991V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CEP135
(R331S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CEP135
(N820D)
Single nucleotide variant
(missense variant)
Microcephaly 8, primary, autosomal recessive
GUncertain significance
CEP135
(R292*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CEP135
(L977fs)
Deletion
(frameshift variant)
Microcephaly 8, primary, autosomal recessive
GPathogenic
CEP135
Single nucleotide variant
(splice donor variant)
Microcephaly 8, primary, autosomal recessive
GPathogenic
CEP135
(V845A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CEP135
(V213A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
CEP135
(Q324fs)
Deletion
(frameshift variant)
Microcephaly 8, primary, autosomal recessive
GPathogenic
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