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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA1
(R979fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GPathogenic/Likely pathogenic
LAMA1
(G4fs)
Deletion
(frameshift variant)
not provided
GPathogenic