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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF462
(V518fs)
Deletion
(frameshift variant)
Weiss-kruszka syndrome
GPathogenic
ZNF462, LOC340512
(E1532G +1 more)
Single nucleotide variant
(missense variant)
Weiss-kruszka syndrome
GUncertain significance