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Links from MedGen

Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PI4KA
(P1259A +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(R1295C +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GLikely pathogenic
PI4KA
(R1919* +2 more)
Single nucleotide variant
(nonsense)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GLikely pathogenic
PI4KA
(W1185R +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(A1466T +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(P1675A +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+1 more
GUncertain significance
PI4KA
(S450R +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GLikely pathogenic
PI4KA
(T1603fs +2 more)
Deletion
(frameshift variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GLikely pathogenic
PI4KA
(Q659K +1 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(Q1923E +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(M911V +1 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(I304N)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(A1015T +1 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+1 more
GUncertain significance
PI4KA
Single nucleotide variant
(splice acceptor variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GPathogenic
PI4KA
(P1961S +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+1 more
GLikely pathogenic
PI4KA
(Q1191* +2 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
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
(R268H)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(T2022fs +2 more)
Deletion
(frameshift variant)
Spastic paraplegia 84, autosomal recessive
+1 more
GPathogenic
PI4KA
(A1198T +2 more)
Single nucleotide variant
(missense variant)
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
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PI4KA
Single nucleotide variant
(synonymous variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+1 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+1 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+2 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PI4KA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+1 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+1 more
GBenign
PI4KA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PI4KA
Duplication
(intron variant)
not provided
+2 more
GBenign
PI4KA
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PI4KA
Single nucleotide variant
(synonymous variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+2 more
GBenign
PI4KA
(S1092* +1 more)
Single nucleotide variant
(nonsense)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GPathogenic
PI4KA
(S873F +1 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(M167I)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(N359S +1 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(R774fs +1 more)
Deletion
(frameshift variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GLikely pathogenic
PI4KA
(F1851S +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
(D1807N +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance
PI4KA
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PI4KA
Single nucleotide variant
(synonymous variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+1 more
GConflicting classifications of pathogenicity
PI4KA
Single nucleotide variant
(synonymous variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+1 more
GConflicting classifications of pathogenicity
PI4KA
(D1866N +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
+3 more
GUncertain significance
PI4KA
(D1854N +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PI4KA
(R796* +1 more)
Single nucleotide variant
(nonsense)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GPathogenic
PAH
(Y386C)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(E280K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
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