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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2E
(S102fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
+1 more
GPathogenic
KMT2E
(E369fs)
Duplication
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(P728fs)
Insertion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(H1740fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
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