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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3R2
(H698P)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
+2 more
GUncertain significance
Inversion
Prominent forehead
+9 more
GUncertain significance
MLH1
(N64S)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+9 more
GConflicting classifications of pathogenicity
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