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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533671, TSEN54
Duplication
(inframe_insertion +1 more)
Pontoneocerebellar hypoplasia
+3 more
GConflicting classifications of pathogenicity
LOC112533671, TSEN54
Insertion
(inframe_insertion)
not provided
GUncertain significance
LOC112533671, TSEN54
(E2D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC112533671, TSEN54
(E4D)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 5
+5 more
GBenign
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