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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NSF, LRRC37A2
(A430V)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
LRRC37A2, GOSR2
(T8fs)
Duplication
(frameshift variant +2 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
GOSR2, LRRC37A2
(G144W +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic
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