C4225361[trait identifier] AND "Simons Lab, The University of Queensla - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 808067	NM_001605.3(AARS1):c.1997T>C (p.Val666Ala)	AARS1 (V666A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1036988	NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser)	AARS1 (G581S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1164094	NM_001605.3(AARS1):c.1574G>A (p.Cys525Tyr)	AARS1 (C525Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GLikely pathogenic
Select item 665504	NM_001605.3(AARS1):c.778A>G (p.Thr260Ala)	AARS1 (T260A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29 +1 more	GConflicting classifications of pathogenicity
Select item 1164093	NM_001605.3(AARS1):c.562_563inv (p.Ser188Leu)	AARS1 (S188L)	Inversion (missense variant)	Developmental and epileptic encephalopathy, 29	GPathogenic
Select item 1164091	NM_001605.3(AARS1):c.296A>G (p.Glu99Gly)	AARS1 (E99G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GPathogenic

ClinVar