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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TIA1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
TIA1
(N357S +11 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
+3 more
GConflicting classifications of pathogenicity
TIA1
Deletion
(intron variant)
Welander distal myopathy
+1 more
GBenign
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