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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEB, RIF1
(R8032* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nemaline myopathy 2
+6 more
GPathogenic/Likely pathogenic
LOC126806373, NEB
(R6515C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEB
Duplication
(intron variant)
Nemaline Myopathy, Recessive
+1 more
GBenign
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