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  • The following term was not found in ClinVar: uncinia.
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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHB
(C196Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
SDHC
(R15*)
Single nucleotide variant
(nonsense +3 more)
Gastrointestinal stromal tumor
+4 more
GPathogenic
ACP5
(Y278del)
Deletion
(inframe_deletion)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(Q223*)
Single nucleotide variant
(nonsense)
Spondyloenchondrodysplasia with immune dysregulation
GPathogenic
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