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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDC25C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
BRD8, CDC23
+29 more
Deletion
STING-associated vasculopathy with onset in infancy
GUncertain significance
ANKHD1, ANKHD1-EIF4EBP3
+53 more
Duplication
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GUncertain significance
HSPA9, IGIP
+116 more
Duplication
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GUncertain significance
ARAP3, CCDC69
+385 more
Deletion
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
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