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Items: 4

  • The following term was not found in ClinVar: Casearia.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL
(G138E +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
AGL
(R343W +3 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease type III
+2 more
GConflicting classifications of pathogenicity
AGL
(R675W +4 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease type III
GConflicting classifications of pathogenicity
SAMD9
(R459Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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