Total 85 pathogenic variants reported for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_018122.5(DARS2):c.787C>T (p.Arg263Ter) SNV
Germline		 Chr1:173838206 Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251677 rs_121918206

6 SubmittersRCV000001114RCV002512634
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) SNV
Germline		 Chr1:173838207 Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251679 rs_121918207

6 SubmittersRCV000001115RCV002243611
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) SNV
Germline		 Chr1:173831593 Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided
See cases
DARS2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339866 rs_121918208

12 SubmittersRCV000001116RCV000676393RCV002254674RCV003934791
NM_018122.5(DARS2):c.492+2T>C SNV
Germline		 Chr1:173831632 Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided
Gait ataxia
Gait imbalance
Dysmetria
10 conditions
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2LL		 Criteria Provided
Multiple Submitters
No Conflicts
 CA208387 rs_142433332

22 SubmittersRCV000001117RCV000255444RCV000415333RCV000626946RCV002512635RCV005887151RCV006455044
NM_018122.5(DARS2):c.133A>G (p.Ser45Gly) SNV
Germline		 Chr1:173826692 Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome No Assertion Criteria Provided
 CA251680 rs_121918209

1 SubmittersRCV000001118
NM_018122.5(DARS2):c.536G>A (p.Arg179His) SNV
Germline		 Chr1:173833419 Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251681 rs_121918210

7 SubmittersRCV000001119RCV001268501
NM_018122.5(DARS2):c.228-22T>A SNV
Germline		 Chr1:173828311 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter
 CA891843256 rs_1557853625

2 SubmittersRCV000023847
NM_018122.5(DARS2):c.127+1G>A SNV
Germline		 Chr1:173825357 Conflicting classifications of pathogenicity Inborn genetic diseases
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA358265 rs_869312918

2 SubmittersRCV000210734RCV005252814
NM_018122.5(DARS2):c.549G>A (p.Met183Ile) SNV
Germline		 Chr1:173833432 Conflicting classifications of pathogenicity Inborn genetic diseases
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA358035 rs_869312930

2 SubmittersRCV000210580RCV005252815
NM_018122.5(DARS2):c.1750+11T>C SNV
Germline		 Chr1:173856752 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1250508 rs_535671373

2 SubmittersRCV000307251RCV002519413
NM_018122.5(DARS2):c.1758C>T (p.Asp586=) SNV
Germline		 Chr1:173857525 Conflicting classifications of pathogenicity Condition: not provided
DARS2-related disorder
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA1250520 rs_371048800

5 SubmittersRCV000896274RCV003940094RCV000364586
NM_018122.5(DARS2):c.567G>A (p.Leu189=) SNV
Germline		 Chr1:173833450 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
not specified
Condition: not provided
DARS2-related disorder		 Criteria Provided
Conflicting Classifications
 CA1250165 rs_547708828

4 SubmittersRCV000391838RCV000421034RCV002519412RCV004757196
NM_018122.5(DARS2):c.1558A>C (p.Lys520Gln) SNV
Germline		 Chr1:173853562 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1250439 rs_201876507

3 SubmittersRCV000313004RCV001850499RCV003243056
NM_018122.5(DARS2):c.261T>C (p.Asp87=) SNV
Germline		 Chr1:173828366 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1250080 rs_182096636

4 SubmittersRCV000388121RCV000935848
NM_018122.5(DARS2):c.1182T>C (p.His394=) SNV
Germline		 Chr1:173845282 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1250335 rs_569842479

2 SubmittersRCV000405361RCV005055841
NM_018122.5(DARS2):c.1355T>G (p.Leu452Ter) SNV
Germline		 Chr1:173853359 Likely pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603486 rs_1057524364

2 SubmittersRCV000436360RCV005252894
NM_018122.5(DARS2):c.128-4A>T SNV
Germline		 Chr1:173826683 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Thymoma
Familial cancer of breast
Clear cell carcinoma of kidney
Pancreatic adenocarcinoma
Malignant tumor of urinary bladder
not specified		 Criteria Provided
Conflicting Classifications
 CA1250010 rs_769597479

7 SubmittersRCV000881319RCV001099404RCV005900826RCV005900822RCV005900824RCV005900825RCV005900823RCV006447150
NM_018122.5(DARS2):c.505C>T (p.Leu169Phe) SNV
Germline		 Chr1:173833388 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA16617024 rs_1064794825

3 SubmittersRCV000485720RCV005252913
NM_018122.5(DARS2):c.1501C>T (p.His501Tyr) SNV
Germline		 Chr1:173853505 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA16617025 rs_1064793097

2 SubmittersRCV000483129RCV005252903
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val) SNV
Germline		 Chr1:173857529 Pathogenic/Likely pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA32784502 rs_972404343

7 SubmittersRCV000489689RCV001662476
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn) SNV
Germline		 Chr1:173828364 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Conflicting Classifications
 CA343756941 rs_1209550754

3 SubmittersRCV000709931
NM_018122.5(DARS2):c.188G>A (p.Gly63Asp) SNV
Germline		 Chr1:173826747 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA1250022 rs_114714497

4 SubmittersRCV000522971RCV003989551
NM_018122.5(DARS2):c.396+2T>G SNV
Germline		 Chr1:173830763 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1250113 rs_759123043

7 SubmittersRCV000522142RCV000763274RCV002527573
NM_018122.5(DARS2):c.20T>A (p.Leu7Ter) SNV
Germline		 Chr1:173825249 Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter
 CA343754835 rs_1553200766

1 SubmittersRCV000626171
NM_018122.5(DARS2):c.223C>T (p.Arg75Ter) SNV
Germline		 Chr1:173826782 Pathogenic/Likely pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343756088 rs_1557852998

3 SubmittersRCV000733376RCV005253104
NM_018122.5(DARS2):c.563G>A (p.Arg188Gln) SNV
Germline		 Chr1:173833446 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Conflicting Classifications
 CA1250163 rs_182811621

3 SubmittersRCV000856596
NM_018122.5(DARS2):c.228-17C>G SNV
Germline		 Chr1:173828316 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1250058 rs_754752982

2 SubmittersRCV000986463RCV003769293
NM_018122.5(DARS2):c.493-1G>C SNV
Germline		 Chr1:173833375 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1250153 rs_771905691

4 SubmittersRCV001095703RCV002252316
NM_018122.5(DARS2):c.228-13C>G SNV
Germline		 Chr1:173828320 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided
Thymoma		 Criteria Provided
Conflicting Classifications
 CA1250068 rs_549430098

3 SubmittersRCV001099405RCV002556014RCV005913671
NM_018122.5(DARS2):c.228-10C>G SNV
Germline		 Chr1:173828323 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided
Uterine corpus endometrial carcinoma
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA1250075 rs_201817953

4 SubmittersRCV001099406RCV001732042RCV005913673RCV005913672
NM_018122.5(DARS2):c.228-10C>T SNV
Germline		 Chr1:173828323 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1009247847 rs_201817953

2 SubmittersRCV001099407RCV002558002
NM_018122.5(DARS2):c.416T>C (p.Ile139Thr) SNV
Germline		 Chr1:173831554 Conflicting classifications of pathogenicity Spastic ataxia
Mitochondrial disease
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA343759024 rs_1279409996

3 SubmittersRCV001647157RCV005361534RCV005253803
NM_018122.5(DARS2):c.228-16C>G SNV
Germline		 Chr1:173828317 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA1250061 rs_778731200

4 SubmittersRCV001528703RCV005253851
NM_018122.5(DARS2):c.228-16C>A SNV
Germline		 Chr1:173828317 Pathogenic/Likely pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1250060 rs_778731200

6 SubmittersRCV001540255RCV002246416
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly) SNV
Germline		 Chr1:173826731 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Inborn genetic diseases
Mitochondrial disease		 Criteria Provided
Conflicting Classifications
 CA1250017 rs_375700548

9 SubmittersRCV002568303RCV001548762RCV005320823RCV005361657
NM_018122.5(DARS2):c.742C>T (p.Gln248Ter) SNV
Germline		 Chr1:173837018 Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343762080 rs_772489337

3 SubmittersRCV001548761RCV001587467
NM_018122.5(DARS2):c.228-15C>A SNV
Germline		 Chr1:173828318 Pathogenic/Likely pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1250062 rs_200392167

2 SubmittersRCV001564279RCV005253862
NM_018122.5(DARS2):c.562C>T (p.Arg188Ter) SNV
Germline		 Chr1:173833445 Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1250162 rs_751929342

4 SubmittersRCV001663401RCV005094871
NM_018122.5(DARS2):c.452C>A (p.Ala151Asp) SNV
Germline		 Chr1:173831590 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome No Assertion Criteria Provided
 CA343759229 rs_2102639360

1 SubmittersRCV001838824
NM_018122.5(DARS2):c.785C>T (p.Ala262Val) SNV
Germline		 Chr1:173838204 Likely pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343762282 rs_1281179187

2 SubmittersRCV001757203RCV005253882
NM_018122.5(DARS2):c.128-1G>T SNV
Unknown		 Chr1:173826686 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter
 CA343755440 rs_267598175

1 SubmittersRCV001780608
NM_018122.5(DARS2):c.749T>C (p.Leu250Pro) SNV
Germline		 Chr1:173837025 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA32773050 rs_778283912

3 SubmittersRCV001905299RCV005253911
NM_018122.5(DARS2):c.760G>A (p.Gly254Ser) SNV
Germline		 Chr1:173837036 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA1250225 rs_766714463

2 SubmittersRCV002035468RCV005253960
NM_018122.5(DARS2):c.1452C>G (p.Phe484Leu) SNV
Germline		 Chr1:173853456 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA1250425 rs_181672516

2 SubmittersRCV002226162RCV005254031
NM_018122.5(DARS2):c.1702C>T (p.Leu568Phe) SNV
Germline		 Chr1:173856693 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome No Assertion Criteria Provided
 CA343767440 rs_2525938825

1 SubmittersRCV002281618
NM_018122.5(DARS2):c.397-2A>G SNV
Germline		 Chr1:173831533 Pathogenic/Likely pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343758879 rs_1229799153

3 SubmittersRCV002306094RCV005254056
NM_018122.5(DARS2):c.535C>T (p.Arg179Cys) SNV
Germline		 Chr1:173833418 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA1250161 rs_758486944

2 SubmittersRCV003089408RCV005254701
NM_018122.5(DARS2):c.173G>A (p.Arg58His) SNV
Germline		 Chr1:173826732 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA1250018 rs_773592266

3 SubmittersRCV002591927RCV003161906RCV005254708
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter) SNV
Germline		 Chr1:173838215 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1250241 rs_149035108

5 SubmittersRCV002634321RCV002648220RCV003341525
NM_018122.5(DARS2):c.294G>T (p.Glu98Asp) SNV
Germline		 Chr1:173828399 Pathogenic/Likely pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343757191 rs_746924883

2 SubmittersRCV002613181RCV005254115
NM_018122.5(DARS2):c.1441G>A (p.Val481Met) SNV
Germline		 Chr1:173853445 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Conflicting Classifications
 CA1250423 rs_748312411

2 SubmittersRCV003152935
NM_018122.5(DARS2):c.823C>T (p.Gln275Ter) SNV
Germline		 Chr1:173838242 Pathogenic/Likely pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1250252 rs_753732596

2 SubmittersRCV003326765RCV005254767
NM_018122.5(DARS2):c.382G>C (p.Gly128Arg) SNV
Germline		 Chr1:173830747 Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA343758682 rs_2525846742

2 SubmittersRCV005254791RCV003443312
NM_018122.5(DARS2):c.1440G>A (p.Trp480Ter) SNV
Germline		 Chr1:173853444 Likely pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA32783107 rs_139747670

2 SubmittersRCV003481646RCV005254812
NM_018122.5(DARS2):c.1552G>T (p.Glu518Ter) SNV
Germline		 Chr1:173853556 Pathogenic Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343766721 rs_780089971

2 SubmittersRCV003724769RCV005871278
NM_018122.5(DARS2):c.228-21T>C SNV
Germline		 Chr1:173828312 Conflicting classifications of pathogenicity Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		 Criteria Provided
Conflicting Classifications
 CA1250052 rs_528772984

2 SubmittersRCV003820996RCV004699139
NM_018122.5(DARS2):c.294+2T>A SNV
Germline		 Chr1:173828401 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005004769
NM_018122.5(DARS2):c.1A>C (p.Met1Leu) SNV
Germline		 Chr1:173825230 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255275
NM_018122.5(DARS2):c.90C>A (p.Tyr30Ter) SNV
Germline		 Chr1:173825319 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255276
NM_018122.5(DARS2):c.228-15C>G SNV
Germline		 Chr1:173828318 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255278
NM_018122.5(DARS2):c.228-11C>G SNV
Germline		 Chr1:173828322 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255279
NM_018122.5(DARS2):c.258C>T (p.Phe86=) SNV
Germline		 Chr1:173828363 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255280
NM_018122.5(DARS2):c.492+1G>A SNV
Germline		 Chr1:173831631 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255282
NM_018122.5(DARS2):c.492+2T>A SNV
Germline		 Chr1:173831632 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255283
NM_018122.5(DARS2):c.492+2T>G SNV
Germline		 Chr1:173831632 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255284
NM_018122.5(DARS2):c.550C>A (p.Gln184Lys) SNV
Germline		 Chr1:173833433 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255285
NM_018122.5(DARS2):c.1619C>G (p.Ser540Ter) SNV
Germline		 Chr1:173853850 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255298
NM_018122.5(DARS2):c.521G>A (p.Arg174His) SNV
Germline		 Chr1:173833404 Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005415335