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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NAA15
(L789V +1 more)
Single nucleotide variant
(missense variant)
Syndromic intellectual disability
GUncertain significance
KMT2C
(M3306I)
Single nucleotide variant
(missense variant)
Syndromic intellectual disability
GUncertain significance
KMT2C
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RAI1
(L201fs)
Deletion
(frameshift variant)
Syndromic intellectual disability
GLikely pathogenic
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