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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2B
(A133V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
KMT2B
(E373del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GBenign/Likely benign
KMT2B
(R616Q)
Single nucleotide variant
(missense variant)
Dystonia 28, childhood-onset
+1 more
GBenign/Likely benign
KMT2B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
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