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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF5, PRKAR1B
(G150R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
DNAAF5
(L479fs)
Microsatellite
(frameshift variant +1 more)
not provided
GLikely pathogenic
DNAAF5
(T669I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAAF5
(D697N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNAAF5
(G818R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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