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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YIF1B
(P250fs +4 more)
Indel
(frameshift variant +1 more)
not provided
GUncertain significance
YIF1B
(S176R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YIF1B
(E200* +4 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
YIF1B
(A159E +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YIF1B
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
DPF1, DYRK1B
+105 more
Copy number gain
See cases
GPathogenic
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