C2750090[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8466	NM_001605.3(AARS1):c.986G>A (p.Arg329His)	AARS1 (R329H)	Single nucleotide variant	Charcot-Marie-Tooth disease type 2 +3 more	GPathogenic/Likely pathogenic
Select item 2584743	NM_001605.3(AARS1):c.479+1G>T	AARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2N	GLikely pathogenic