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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARP7, MIR302CHG
(R279fs +2 more)
Duplication
(frameshift variant)
Microcephalic primordial dwarfism, Alazami type
+1 more
GPathogenic
LARP7, MIR302CHG
(S272* +4 more)
Duplication
(nonsense)
Microcephalic primordial dwarfism, Alazami type
GPathogenic
LARP7, MIR302CHG
(K363fs +4 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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