"Baylor Genetics"[submitter] AND "AARS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 320328	NM_001605.3(AARS1):c.2580G>A (p.Leu860=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 947453	NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg)	AARS1 (K762R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1333873	NM_001605.3(AARS1):c.1514C>T (p.Thr505Met)	AARS1 (T505M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 1032755	NM_001605.3(AARS1):c.1444G>T (p.Asp482Tyr)	AARS1 (D482Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 412288	NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)	AARS1 (N340S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 2441640	NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)	AARS1 (A78S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GUncertain significance
Select item 1029358	NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys)	AARS1 (Y25C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar