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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOG
(R87P)
Single nucleotide variant
(missense variant)
NOG-related disorder
+1 more
GUncertain significance
NOG
(G92E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOG
Single nucleotide variant
(synonymous variant)
NOG-related disorder
GLikely benign
NOG
(W150*)
Single nucleotide variant
(nonsense)
NOG-related disorder
GLikely pathogenic
NOG
(R167C)
Single nucleotide variant
(missense variant)
NOG-related disorder
GLikely pathogenic
NOG
(E188fs)
Duplication
(frameshift variant)
NOG-related disorder
GLikely pathogenic
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