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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED13L
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MED13L
(L1762fs)
Deletion
(frameshift variant)
not provided
GPathogenic
MED13L
(P1289L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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