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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTR
(P1173L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
SETD1B
(E509fs)
Deletion
(frameshift variant)
Epilepsy
GLikely pathogenic