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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SORD
(A253fs)
Deletion
(frameshift variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
SORD
(N317fs)
Deletion
(frameshift variant +1 more)
not specified
GUncertain significance
SORD
(G341*)
Single nucleotide variant
(nonsense +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
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