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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF335
(E1263*)
Single nucleotide variant
(nonsense)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GPathogenic
ZNF335
(S915fs)
Microsatellite
(frameshift variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GPathogenic/Likely pathogenic