A total 86 pathogenic variants reported in gene phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) SNV
Germline		 Chr6:5369001 Pathogenic Combined oxidative phosphorylation defect type 14
Global developmental delay
Mitochondrial encephalomyopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130596 rs_397514610

8 SubmittersRCV000033044RCV000162158RCV000497519
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) SNV
Germline		 Chr6:5545261 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA130597 rs_397514611

2 SubmittersRCV000033045
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) SNV
Germline		 Chr6:5613275 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA130598 rs_397514612

2 SubmittersRCV000033046
NM_006567.5(FARS2):c.101C>T (p.Ser34Leu) SNV
Germline		 Chr6:5368671 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA324244 rs_148568494

2 SubmittersRCV000541416RCV003480548
NM_006567.5(FARS2):c.403C>G (p.His135Asp) SNV
Germline		 Chr6:5368973 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA321889 rs_1554169353

1 SubmittersRCV000714939
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) SNV
Germline		 Chr6:5369076 Conflicting classifications of pathogenicity Condition: not provided
Combined oxidative phosphorylation defect type 14
FARS2-related disorder		 Criteria Provided
Conflicting Classifications
 CA324892 rs_146356199

6 SubmittersRCV000200335RCV000557427RCV003937732
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) SNV
Germline		 Chr6:5404596 Conflicting classifications of pathogenicity Condition: not provided
Combined oxidative phosphorylation defect type 14		 Criteria Provided
Conflicting Classifications
 CA320775 rs_202060864

5 SubmittersRCV000196357RCV000650594
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) SNV
Germline		 Chr6:5613185 Pathogenic/Likely pathogenic Condition: not provided
Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
Inborn genetic diseases
See cases
FARS2-related disorder
Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77		 Criteria Provided
Multiple Submitters
No Conflicts
 CA325392 rs_751459058

15 SubmittersRCV000200808RCV000525331RCV000578164RCV000622524RCV003156085RCV004751360RCV005396583
NM_006567.5(FARS2):c.1220C>T (p.Thr407Met) SNV
Germline		 Chr6:5771293 Conflicting classifications of pathogenicity Condition: not provided
Combined oxidative phosphorylation defect type 14		 Criteria Provided
Conflicting Classifications
 CA322703 rs_372054960

2 SubmittersRCV000198201RCV000691495
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) SNV
Germline		 Chr6:5771328 Pathogenic/Likely pathogenic Condition: not provided
Hereditary spastic paraplegia 77
Combined oxidative phosphorylation defect type 14		 Criteria Provided
Multiple Submitters
No Conflicts
 CA321645 rs_775690041

4 SubmittersRCV000197201RCV000578139RCV001378476
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) SNV
Germline		 Chr6:5545248 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA10586222 rs_764427452

2 SubmittersRCV000239485
NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr) SNV
Germline		 Chr6:5368994 Pathogenic Hereditary spastic paraplegia 77 Criteria Provided
Single Submitter
 CA10586223 rs_145555213

3 SubmittersRCV000239526
NM_006567.5(FARS2):c.646C>T (p.Gln216Ter) SNV
Germline		 Chr6:5404575 Pathogenic Condition: not provided
Combined oxidative phosphorylation defect type 14
FARS2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16605065 rs_1057523346

3 SubmittersRCV000418107RCV001389847RCV003418132
NM_006567.5(FARS2):c.1256G>A (p.Arg419His) SNV
Germline		 Chr6:5771329 Pathogenic/Likely pathogenic Condition: not provided
Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3623926 rs_202183509

5 SubmittersRCV000493622RCV001250393RCV002509414RCV003156098
NM_006567.5(FARS2):c.344A>G (p.Asn115Ser) SNV
Germline		 Chr6:5368914 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3623630 rs_200731335

2 SubmittersRCV000557742RCV004619340
NM_006567.5(FARS2):c.407C>A (p.Pro136His) SNV
Germline		 Chr6:5368977 Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14
Condition: not provided
Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
FARS2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3623639 rs_199863563

7 SubmittersRCV000542910RCV001545144RCV005398839RCV005056163
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) SNV
Germline		 Chr6:5369067 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
Combined oxidative phosphorylation defect type 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3623658 rs_538791135

4 SubmittersRCV000546306RCV002483484RCV003222035
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) SNV
Germline		 Chr6:5404605 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
FARS2-related disorder		 Criteria Provided
Conflicting Classifications
 CA3623711 rs_201991648

3 SubmittersRCV000549295RCV003935503
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter) SNV
Germline		 Chr6:5545194 Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14
Condition: not provided
FARS2-related disorder
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3623835 rs_148620369

6 SubmittersRCV000527357RCV000598985RCV004579555RCV005861133
NM_006567.5(FARS2):c.461C>T (p.Ala154Val) SNV
Germline		 Chr6:5369031 Conflicting classifications of pathogenicity Hereditary spastic paraplegia 77
Combined oxidative phosphorylation defect type 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3623648 rs_749588235

5 SubmittersRCV000578201RCV001246829RCV005639156
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) SNV
Germline		 Chr6:5368762 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362734751 rs_1554169280

1 SubmittersRCV000578287
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser) SNV
Germline		 Chr6:5613266 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362736964 rs_1407198979

1 SubmittersRCV000578458
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter) SNV
Germline		 Chr6:5431069 Pathogenic Inborn genetic diseases
Combined oxidative phosphorylation defect type 14		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3623761 rs_761709212

2 SubmittersRCV000624131RCV001225070
NM_006567.5(FARS2):c.21G>T (p.Arg7Ser) SNV
Germline		 Chr6:5368591 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3623580 rs_764390927

2 SubmittersRCV000693164RCV003144520
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) SNV
Germline		 Chr6:5368823 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14 Criteria Provided
Conflicting Classifications
 CA3623614 rs_770035560

2 SubmittersRCV000714938
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly) SNV
Germline		 Chr6:5369027 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14 Criteria Provided
Conflicting Classifications
 CA362735325 rs_1561990337

2 SubmittersRCV000714940
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) SNV
Germline		 Chr6:5369037 Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3623651 rs_146988468

4 SubmittersRCV000714948RCV003326510
NM_006567.5(FARS2):c.476A>C (p.His159Pro) SNV
Germline		 Chr6:5369046 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77		 Criteria Provided
Conflicting Classifications
 CA362735365 rs_1561990390

1 SubmittersRCV000714919RCV000714941
NM_006567.5(FARS2):c.530T>A (p.Val177Asp) SNV
Germline		 Chr6:5369100 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362735475 rs_1561990552

1 SubmittersRCV000714942
NM_006567.5(FARS2):c.905-1G>A SNV
Germline		 Chr6:5545179 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362736375 rs_1298860043

1 SubmittersRCV000714949
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) SNV
Germline		 Chr6:5545200 Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA362736415 rs_746746116

4 SubmittersRCV000714943RCV001092144
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) SNV
Germline		 Chr6:5613259 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14 Criteria Provided
Conflicting Classifications
 CA362736951 rs_770597592

2 SubmittersRCV000714944
NM_006567.5(FARS2):c.261G>A (p.Trp87Ter) SNV
Germline		 Chr6:5368831 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362734896 rs_1229314240

1 SubmittersRCV000807810
NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln) SNV
Germline		 Chr6:5545332 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
Inborn genetic diseases
FARS2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3623859 rs_762302341

5 SubmittersRCV000793798RCV001329582RCV003258971RCV004751704RCV004794456
NM_006567.5(FARS2):c.1280A>G (p.Gln427Arg) SNV
Germline		 Chr6:5771353 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3623935 rs_778281728

3 SubmittersRCV000945681RCV001585876
NM_006567.5(FARS2):c.267C>G (p.Ile89Met) SNV
Germline		 Chr6:5368837 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3623616 rs_143959504

3 SubmittersRCV001060389RCV002553881RCV005250131
NM_006567.5(FARS2):c.1001G>A (p.Cys334Tyr) SNV
Germline		 Chr6:5545276 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3623850 rs_745888157

3 SubmittersRCV001042969RCV001578008RCV006367566
NM_006567.5(FARS2):c.1129G>A (p.Ala377Thr) SNV
Germline		 Chr6:5613232 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3623893 rs_145186610

2 SubmittersRCV001056496RCV004977947
NM_006567.5(FARS2):c.625A>G (p.Ile209Val) SNV
Germline		 Chr6:5404554 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA134315042 rs_764360302

2 SubmittersRCV001229561RCV003284087
NM_006567.5(FARS2):c.1051A>C (p.Lys351Gln) SNV
Germline		 Chr6:5545326 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3623858 rs_748818657

2 SubmittersRCV001225688RCV003313195
NM_006567.5(FARS2):c.886C>T (p.Gln296Ter) SNV
Germline		 Chr6:5431154 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362736292 rs_1414534588

1 SubmittersRCV001240651
NM_006567.5(FARS2):c.251A>C (p.His84Pro) SNV
Germline		 Chr6:5368821 Pathogenic Combined oxidative phosphorylation defect type 14 No Assertion Criteria Provided
 CA362734878 rs_1758844499

1 SubmittersRCV001250396
NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe) SNV
Germline		 Chr6:5613216 Pathogenic Combined oxidative phosphorylation defect type 14 No Assertion Criteria Provided
 CA362736853 rs_1204079767

1 SubmittersRCV001250395
NM_006567.5(FARS2):c.3G>T (p.Met1Ile) SNV
Germline		 Chr6:5368573 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362734348 rs_2127642660

1 SubmittersRCV001378498
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter) SNV
Germline		 Chr6:5368868 Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA362734986 rs_1428625375

3 SubmittersRCV001380811RCV003246964RCV005622113
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter) SNV
Germline		 Chr6:5613259 Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14
FARS2-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3623896 rs_770597592

3 SubmittersRCV001386898RCV004550098RCV004728703
NM_006567.5(FARS2):c.424G>A (p.Asp142Asn) SNV
Germline		 Chr6:5368994 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA3623644 rs_145555213

1 SubmittersRCV002027885
NM_006567.5(FARS2):c.1013G>A (p.Arg338His) SNV
Germline		 Chr6:5545288 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3623853 rs_746837108

2 SubmittersRCV001936818RCV003313253
NM_006567.5(FARS2):c.955C>T (p.Leu319=) SNV
Germline		 Chr6:5545230 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3623843 rs_772822506

2 SubmittersRCV001955610RCV003490963
NM_006567.5(FARS2):c.425A>G (p.Asp142Gly) SNV
Germline		 Chr6:5368995 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362735254 rs_2127643852

1 SubmittersRCV001989047
NM_006567.5(FARS2):c.999G>A (p.Trp333Ter) SNV
Germline		 Chr6:5545274 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA134331276 rs_753467517

1 SubmittersRCV002047179
NM_006567.5(FARS2):c.1256G>T (p.Arg419Leu) SNV
Germline		 Chr6:5771329 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA3623927 rs_202183509

1 SubmittersRCV001986491
NM_006567.5(FARS2):c.589G>A (p.Val197Met) SNV
Germline		 Chr6:5369159 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14
not specified		 Criteria Provided
Conflicting Classifications
 CA3623681 rs_149605576

2 SubmittersRCV002027348RCV004782861
NM_006567.5(FARS2):c.929G>A (p.Trp310Ter) SNV
Germline		 Chr6:5545204 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA134331269 rs_933237458

1 SubmittersRCV002659096
NM_006567.5(FARS2):c.1244G>A (p.Arg415His) SNV
Germline		 Chr6:5771317 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA134356520 rs_144758353

1 SubmittersRCV002971085
NM_006567.5(FARS2):c.613-2A>G SNV
Germline		 Chr6:5404540 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362735669 rs_1761439785

1 SubmittersRCV002982845
NM_006567.5(FARS2):c.178C>T (p.Gln60Ter) SNV
Germline		 Chr6:5368748 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362734717 rs_1187765069

1 SubmittersRCV003031498
NM_006567.5(FARS2):c.1110G>A (p.Trp370Ter) SNV
Germline		 Chr6:5613213 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362736844 rs_1341083602

1 SubmittersRCV003044795
NM_006567.5(FARS2):c.11C>G (p.Ser4Ter) SNV
Germline		 Chr6:5368581 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA362734360 rs_1758826622

1 SubmittersRCV003653811
NM_006567.5(FARS2):c.925G>C (p.Gly309Arg) SNV
Germline		 Chr6:5545200 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter
 CA3623838 rs_746746116

1 SubmittersRCV003654079
NM_006567.5(FARS2):c.1A>G (p.Met1Val) SNV
Germline		 Chr6:5368571 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter

1 SubmittersRCV005139696
NM_006567.5(FARS2):c.772+2T>A SNV
Germline		 Chr6:5404703 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter

1 SubmittersRCV005202222
NM_006567.5(FARS2):c.541G>A (p.Asp181Asn) SNV
Germline		 Chr6:5369111 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter

1 SubmittersRCV005233234
NM_006567.5(FARS2):c.904+1G>T SNV
Germline		 Chr6:5431173 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005629116
NM_006567.5(FARS2):c.1128C>G (p.Tyr376Ter) SNV
Germline		 Chr6:5613231 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter

1 SubmittersRCV006524479
NM_006567.5(FARS2):c.271G>T (p.Glu91Ter) SNV
Germline		 Chr6:5368841 Pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter

1 SubmittersRCV006530031
NM_006567.5(FARS2):c.1205T>C (p.Phe402Ser) SNV
Germline		 Chr6:5613308 Likely pathogenic Combined oxidative phosphorylation defect type 14 Criteria Provided
Single Submitter

1 SubmittersRCV006544155