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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF335
(H1296fs)
Microsatellite
(frameshift variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(R1092W)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(S915fs)
Microsatellite
(frameshift variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GPathogenic/Likely pathogenic
ZNF335
(R481G)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+2 more
GUncertain significance
ZNF335
(R286Q)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GConflicting classifications of pathogenicity
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