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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3R5
(P853S +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PIK3R5
(G423S +3 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(R159H +1 more)
Single nucleotide variant
(missense variant)
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
(R157H)
Single nucleotide variant
(missense variant +1 more)
Ataxia with oculomotor apraxia type 3
GUncertain significance
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