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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SALL4
(R905* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SALL4
(H888R +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GPathogenic
SALL4
(T760I)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
Gnot provided
SALL4
(K597R)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
Gnot provided
SALL4
(V181M)
Single nucleotide variant
(missense variant)
SALL4-related condition
+2 more
GConflicting classifications of pathogenicity
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