C1842237[trait identifier] AND "ARUP Laboratories, Molecular Genetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297149	NM_003680.4(YARS1):c.1374G>A (p.Pro458=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2153923	NM_003680.4(YARS1):c.1042+20G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GLikely benign
Select item 215506	NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr)	YARS1 (A339T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 391219	NM_003680.4(YARS1):c.1008G>A (p.Leu336=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 464876	NM_003680.4(YARS1):c.483G>C (p.Leu161=)	YARS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 618497	NM_003680.4(YARS1):c.298G>A (p.Val100Met)	YARS1 (V100M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297162	NM_003680.4(YARS1):c.60G>A (p.Glu20=)	YARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

ClinVar