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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CENPE
(L296fs)
Deletion
(frameshift variant)
Microcephaly 13, primary, autosomal recessive
GLikely pathogenic
CENPE
(E468fs)
Microsatellite
(frameshift variant)
Microcephaly 13, primary, autosomal recessive
GLikely pathogenic
CENPE
(L892fs +1 more)
Duplication
(frameshift variant)
Microcephaly 13, primary, autosomal recessive
GUncertain significance
CENPE
(N1140S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 13, primary, autosomal recessive
+1 more
GUncertain significance
CENPE
(E2152K +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 13, primary, autosomal recessive
GUncertain significance
CENPE
(A27V)
Single nucleotide variant
(missense variant)
Microcephaly 13, primary, autosomal recessive
GUncertain significance
CENPE
(T1969M +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 13, primary, autosomal recessive
+1 more
GBenign
CENPE
Single nucleotide variant
(synonymous variant)
Microcephaly 13, primary, autosomal recessive
+1 more
GBenign
CENPE
Single nucleotide variant
(synonymous variant)
Microcephaly 13, primary, autosomal recessive
+1 more
GBenign
CENPE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CENPE
(S2275N +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 13, primary, autosomal recessive
GUncertain significance
CENPE
(E1679K +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 13, primary, autosomal recessive
GUncertain significance
CENPE
Single nucleotide variant
(intron variant)
Microcephaly 13, primary, autosomal recessive
GUncertain significance
CENPE
Single nucleotide variant
(splice acceptor variant)
Microcephaly 13, primary, autosomal recessive
GLikely pathogenic
CENPE
(H102Y)
Single nucleotide variant
(missense variant)
Microcephaly 13, primary, autosomal recessive
+2 more
GUncertain significance
CENPE
(K1355E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CENPE
(D933N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
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