C5394205[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978212	NM_007118.4(TRIO):c.3224C>T (p.Thr1075Ile)	TRIO (T1075I)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	GLikely pathogenic
Select item 830226	NM_007118.4(TRIO):c.3232C>G (p.Arg1078Gly)	TRIO (R1078G)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	GPathogenic
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 978213	NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu)	TRIO (P1461L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GPathogenic/Likely pathogenic

ClinVar