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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSHB
(Q24* +1 more)
Single nucleotide variant
(nonsense)
TSHB-related condition
+2 more
GPathogenic/Likely pathogenic
TSHB
(C125fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic