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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SALL1
(R1054* +1 more)
Single nucleotide variant
(nonsense)
Townes syndrome
+1 more
GPathogenic/Likely pathogenic
SALL1
(R276* +1 more)
Single nucleotide variant
(nonsense)
Townes syndrome
+2 more
GPathogenic