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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3R5
(A5T)
Single nucleotide variant
(missense variant +2 more)
Ataxia with oculomotor apraxia type 3
Gnot provided
PIK3R5
(R159H +1 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(V394del +3 more)
Microsatellite
(inframe_deletion)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(T465M +3 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(N398S +3 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
Single nucleotide variant
(intron variant)
Ataxia with oculomotor apraxia type 3
GBenign
PIK3R5
Single nucleotide variant
(intron variant)
Ataxia with oculomotor apraxia type 3
GBenign
PIK3R5
Single nucleotide variant
(intron variant)
Ataxia with oculomotor apraxia type 3
GBenign
PIK3R5
Single nucleotide variant
(intron variant)
Ataxia with oculomotor apraxia type 3
GBenign
PIK3R5
(R157H)
Single nucleotide variant
(missense variant +1 more)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(P403S +1 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(G423S +3 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PIK3R5
Single nucleotide variant
(intron variant)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
(P853S +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
(P629S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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