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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADD3
(L45I)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 3
GBenign
ADD3
(N29S +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 3
GPathogenic
ADD3
(N254S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADD3
(G380R +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADD3
(G367D +1 more)
Single nucleotide variant
(missense variant)
Cerebral palsy, spastic quadriplegic, 3
GPathogenic/Likely pathogenic
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