C4310740[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 253082	NM_007118.4(TRIO):c.649A>T (p.Arg217Ter)	TRIO (R217*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 253086	NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile)	TRIO (N1080I)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	GPathogenic
Select item 253081	NM_007118.4(TRIO):c.3752del (p.Asp1251fs)	TRIO (D1251fs)	Deletion (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 253080	NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter)	TRIO (W1376*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 253084	NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)	TRIO (R1428Q)	Single nucleotide variant (missense variant +1 more)	TRIO-related disorder +2 more	GPathogenic
Select item 253085	NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr)	TRIO (P1461T)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 253083	NM_007118.4(TRIO):c.4466del (p.Gln1489fs)	TRIO (Q1489fs)	Deletion (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic