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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBL1XR1
(V337I +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(Q58fs)
Deletion
(frameshift variant +1 more)
Pierpont syndrome
GLikely pathogenic