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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2A
(P2515fs +2 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(R2699* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic