"Illumina Laboratory Services, Illumina"[submitter] AND "TRIO"[gene] - ClinVar - NCBI

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Items: 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989370	NM_007118.4(TRIO):c.1897C>G (p.Gln633Glu)	TRIO (Q633E)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1328546	NM_007118.4(TRIO):c.2105C>T (p.Ser702Leu)	TRIO (S702L)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 873492	NM_007118.4(TRIO):c.2891C>T (p.Ala964Val)	TRIO (A964V)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 989371	NM_007118.4(TRIO):c.7080G>C (p.Gln2360His)	TRIO (Q2360H)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 989372	NM_007118.4(TRIO):c.7595C>T (p.Ala2532Val)	TRIO (A2532V)	Single nucleotide variant (missense variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 989373	NM_007118.4(TRIO):c.8834C>T (p.Thr2945Met)	TRIO (T2945M)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance