C4310740[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521730	NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter)	TRIO (Q768*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 449111	NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)	TRIO (R1078W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +5 more	GConflicting classifications of pathogenicity
Select item 830227	NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln)	TRIO (R1078Q)	Single nucleotide variant (missense variant +1 more)	TRIO-related disorder +3 more	GPathogenic/Likely pathogenic
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 830228	NM_007118.4(TRIO):c.3895G>A (p.Glu1299Lys)	TRIO (E1299K)	Single nucleotide variant (missense variant +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 545083	NM_007118.4(TRIO):c.4406A>G (p.His1469Arg)	TRIO (H1469R)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic