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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPRED2
(R60* +1 more)
Single nucleotide variant
(nonsense)
Noonan syndrome
+1 more
GPathogenic
SPRED2
(L100P +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SPRED2
(L378fs +1 more)
Deletion
(frameshift variant)
Noonan syndrome
GPathogenic
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