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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861936, NIN
(N1709S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NIN
(V1135I)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
LOC130055602, NIN
(Q656*)
Single nucleotide variant
(nonsense)
Seckel syndrome 7
GLikely pathogenic
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