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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAG2
(C632S)
Single nucleotide variant
(missense variant)
Mullegama-Klein-Martinez syndrome
GUncertain significance
STAG2
(A638fs)
Deletion
(frameshift variant)
Mullegama-Klein-Martinez syndrome
GPathogenic