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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIO
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
TRIO
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
+2 more
GBenign/Likely benign
TRIO
Deletion
(inframe_indel)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
+2 more
GBenign/Likely benign
LOC126807323, TRIO
(R2707Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TRIO
(V3060I)
Single nucleotide variant
(missense variant +1 more)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
+2 more
GBenign/Likely benign
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