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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAH
(E280K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
PI4KA
(T2022fs +2 more)
Deletion
(frameshift variant)
Spastic paraplegia 84, autosomal recessive
+1 more
GPathogenic
PI4KA
(R1991fs +2 more)
Deletion
(frameshift variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GPathogenic
PI4KA
(G1925E +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GPathogenic
PI4KA
(D1854N +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PI4KA
(A1198T +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GPathogenic
PI4KA
(Q1191* +2 more)
Single nucleotide variant
(nonsense)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GPathogenic
PI4KA
(E1152K +1 more)
Single nucleotide variant
(missense variant +1 more)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+1 more
GLikely pathogenic
PI4KA
(P854fs +1 more)
Duplication
(frameshift variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GPathogenic
PI4KA
(R796* +1 more)
Single nucleotide variant
(nonsense)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GPathogenic
PI4KA
(L777P +1 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GPathogenic
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