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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SALL1
(E317* +1 more)
Single nucleotide variant
(nonsense)
Townes syndrome
GPathogenic
SALL1
(L196fs +1 more)
Deletion
(frameshift variant)
Townes syndrome
GPathogenic