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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBXAS1
(D141E +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
TBXAS1
(L289V +4 more)
Single nucleotide variant
(missense variant)
Ghosal hematodiaphyseal dysplasia
+2 more
GBenign
TBXAS1
(R345Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBXAS1
(G406W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
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