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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLG4
(R540* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DLG4
Single nucleotide variant
(splice acceptor variant)
Intellectual developmental disorder 62
GLikely pathogenic
DLG4, LOC126862479
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADVL, DLG4
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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