ClinVar for MedGen (Select 468432) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 647673	NM_002047.4(GARS1):c.668A>G (p.Gln223Arg)	GARS1 (Q169R +1 more)	Single nucleotide variant (missense variant)	GARS1-related neuropathies +1 more	GUncertain significance
Select item 220645	NM_002047.4(GARS1):c.1751T>A (p.Ile584Asn)	GARS1 (I584N +1 more)	Single nucleotide variant (missense variant)	GARS-Associated Axonal Neuropathy +2 more	GUncertain significance