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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP55
(D8Y)
Single nucleotide variant
(missense variant)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
GUncertain significance
CEP55
(V127I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CEP55
Single nucleotide variant
(intron variant)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
GBenign
CEP55
(H378L)
Single nucleotide variant
(missense variant)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
+1 more
GBenign
FOXP3
Single nucleotide variant
(splice acceptor variant)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
GLikely pathogenic
CEP55
(H458R)
Single nucleotide variant
(missense variant)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
GUncertain significance
CEP55
(R64*)
Single nucleotide variant
(nonsense)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
GLikely pathogenic
CEP55
(P426R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CEP55
Single nucleotide variant
(intron variant)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
GPathogenic
CEP55
(Y269*)
Single nucleotide variant
(nonsense)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
GPathogenic
CEP55
(E24K)
Single nucleotide variant
(missense variant)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
GUncertain significance
CEP55
(I172fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CEP55
(R86*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic
CEP55
(S425*)
Single nucleotide variant
(nonsense)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
GPathogenic
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