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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2D
(R3656C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
KMT2D
(P998A)
Single nucleotide variant
(missense variant)
Kabuki syndrome
+1 more
GConflicting classifications of pathogenicity