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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED13L
(H1453P)
Single nucleotide variant
(missense variant)
Rare genetic intellectual disability
GLikely pathogenic
MED13L
(A778V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED13L
(R388fs)
Deletion
(frameshift variant)
Rare genetic intellectual disability
GLikely pathogenic
MED13L
(S330fs)
Deletion
(frameshift variant)
Rare genetic intellectual disability
GLikely pathogenic
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