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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCLO
(I4499V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCLO
(R3982H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PCLO
(Q2524L)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+2 more
GConflicting classifications of pathogenicity
PCLO
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 3
+2 more
GBenign/Likely benign
PCLO
(S1532N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
PCLO
(R104H)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+2 more
GUncertain significance
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