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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSEN54
(S93P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TSEN54
(Q246*)
Single nucleotide variant
(nonsense)
Pontocerebellar hypoplasia type 5
+1 more
GPathogenic/Likely pathogenic
TSEN54
(A307S)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 5
+14 more
GPathogenic/Likely pathogenic
TSEN54
(Q343*)
Single nucleotide variant
(nonsense)
Pontocerebellar hypoplasia type 4
GPathogenic
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