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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055387, NRL
(L130F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LOC130055387, NRL
(C219fs +1 more)
Deletion
(frameshift variant)
NRL-related disorder
+3 more
GConflicting classifications of pathogenicity
NRL, LOC130055387
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
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