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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3R1
(E489K +3 more)
Single nucleotide variant
(missense variant)
SHORT syndrome
GPathogenic
PIK3R1
(I539del +3 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
GLikely pathogenic
PIK3R1
(R631Q +3 more)
Single nucleotide variant
(missense variant)
SHORT syndrome
Gnot provided
PIK3R1
(N273fs +3 more)
Deletion
(frameshift variant)
SHORT syndrome
Gnot provided
PIK3R1
(R349fs +3 more)
Duplication
(frameshift variant)
SHORT syndrome
GPathogenic
PIK3R1
(R649W +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
PIK3R1
(Y657* +3 more)
Single nucleotide variant
(nonsense)
SHORT syndrome
Gnot provided
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