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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTOR
(H262Y)
Single nucleotide variant
(missense variant +1 more)
Overgrowth syndrome
GUncertain significance
PIK3R1
(L210P +3 more)
Single nucleotide variant
(missense variant)
Overgrowth syndrome
GPathogenic
MTOR
(F1472L +1 more)
Single nucleotide variant
(missense variant)
Overgrowth syndrome
GLikely pathogenic
PIK3R2
(R559C)
Single nucleotide variant
(missense variant +1 more)
Overgrowth syndrome
GUncertain significance
PIK3R1
Deletion
(inframe_deletion)
Overgrowth syndrome
GLikely pathogenic
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