"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases U - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027410	NM_020745.4(AARS2):c.446G>A (p.Cys149Tyr)	AARS2, POLR1C (C149Y)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 1027411	NM_020745.4(AARS2):c.385A>C (p.Thr129Pro)	AARS2, POLR1C (T129P)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic