YARS2 Chromosome 12

Tyrosyl-tRNA synthetase 2

49 variants 49 Health Risk

Upload your DNA to see your personal genotypes for variants in YARS2.

What This Gene Does

This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

Gene Info

Gene Group

Aminoacyl tRNA synthetases, Class I

Locus Type

gene with protein product

Location

12p11.21

Ensembl

ENSG00000139131

Associated Conditions (6)

Myopathy

lactic acidosis

and sideroblastic anemia 2

YARS2-related disorder

Inborn genetic diseases

Mitochondrial disease

Key Variants

RS1018458052

Conflicting classifications of pathogenicity

Health Risk

RS137922867

Conflicting classifications of pathogenicity

Myopathy, lactic acidosis, and sideroblastic anemia 2

Health Risk

RS145906298

Conflicting classifications of pathogenicity

Myopathy, lactic acidosis, and sideroblastic anemia 2

Health Risk

RS147551647

Conflicting classifications of pathogenicity

Myopathy, lactic acidosis, and sideroblastic anemia 2

Health Risk

RS147630375

Conflicting classifications of pathogenicity

Myopathy, lactic acidosis, and sideroblastic anemia 2

Health Risk

RS148921993

Conflicting classifications of pathogenicity

Health Risk

RS149781186

Conflicting classifications of pathogenicity

Myopathy, lactic acidosis, and sideroblastic anemia 2

Health Risk

RS150304121

Conflicting classifications of pathogenicity

Myopathy, lactic acidosis, and sideroblastic anemia 2

Health Risk

RS190043383

Conflicting classifications of pathogenicity

Myopathy, lactic acidosis, and sideroblastic anemia 2

Health Risk

RS199885274

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS541554381

Conflicting classifications of pathogenicity

Myopathy, lactic acidosis, and sideroblastic anemia 2

Health Risk

RS555093151

Conflicting classifications of pathogenicity

Health Risk

All Variants (49)

RSID	Category	Clinical Significance	Conditions
RS1018458052	Health Risk	Conflicting classifications of pathogenicity	—
RS137922867	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS145906298	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS147551647	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS147630375	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS148921993	Health Risk	Conflicting classifications of pathogenicity	YARS2-related disorder, YARS2-related disorder
RS149781186	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS150304121	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS190043383	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS199885274	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS541554381	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS555093151	Health Risk	Conflicting classifications of pathogenicity	—
RS560972647	Health Risk	Conflicting classifications of pathogenicity	—
RS565102282	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS565781501	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS760072286	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS762813092	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS774325742	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS886049305	Health Risk	Conflicting classifications of pathogenicity	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS1085307738	Health Risk	Likely pathogenic	—
RS1955799198	Health Risk	Likely pathogenic	—
RS372098364	Health Risk	Likely pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS759320963	Health Risk	Likely pathogenic	—
RS779467403	Health Risk	Likely pathogenic	—
RS863224270	Health Risk	Likely pathogenic	—
RS863224271	Health Risk	Likely pathogenic	—
RS863224272	Health Risk	Likely pathogenic	—
RS863224273	Health Risk	Likely pathogenic	—
RS11539445	Health Risk	Pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS1159651127	Health Risk	Pathogenic	—
RS1215680080	Health Risk	Pathogenic	—
RS1365700579	Health Risk	Pathogenic	Mitochondrial disease, Mitochondrial disease
RS1555137047	Health Risk	Pathogenic	—
RS1955836490	Health Risk	Pathogenic	—
RS2541163218	Health Risk	Pathogenic	—
RS2541163589	Health Risk	Pathogenic	—
RS2541164176	Health Risk	Pathogenic	—
RS2541164317	Health Risk	Pathogenic	—
RS2541164598	Health Risk	Pathogenic	—
RS587777213	Health Risk	Pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS587777214	Health Risk	Pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS587777215	Health Risk	Pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS768344665	Health Risk	Pathogenic	—
RS770210023	Health Risk	Pathogenic	—
RS775256289	Health Risk	Pathogenic	Mitochondrial disease, Mitochondrial disease
RS797045077	Health Risk	Pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS267607180	Health Risk	Pathogenic/Likely pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS745595833	Health Risk	Pathogenic/Likely pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2
RS748941040	Health Risk	Pathogenic/Likely pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2