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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIO
(R217*)
Single nucleotide variant
(nonsense +1 more)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
GPathogenic
TRIO
(N1080I)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
GPathogenic
TRIO
(D1251fs)
Deletion
(frameshift variant +1 more)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
GPathogenic
TRIO
(W1376*)
Single nucleotide variant
(nonsense +1 more)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
GPathogenic
TRIO
(R1428Q)
Single nucleotide variant
(missense variant +1 more)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
+2 more
GPathogenic
TRIO
(P1461T)
Single nucleotide variant
(missense variant +1 more)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
GPathogenic
TRIO
(Q1489fs)
Deletion
(frameshift variant +1 more)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
GPathogenic
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