Total 46 pathogenic variants reported for Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) SNV
Germline		 Chr2:27313031 Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Mitochondrial DNA depletion syndrome
Charcot-Marie-Tooth disease, axonal, type 2EE		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341380 rs_121909721

8 SubmittersRCV000017543RCV000712314RCV002509162RCV003466861
NM_002437.5(MPV17):c.498C>A (p.Asn166Lys) SNV
Germline		 Chr2:27309945 Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) No Assertion Criteria Provided
 CA341381 rs_121909722

1 SubmittersRCV000017544
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) SNV
Germline		 Chr2:27313032 Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341382 rs_121909723

8 SubmittersRCV000017545RCV000264441RCV003227464RCV003473105
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) SNV
Germline		 Chr2:27312510 Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341383 rs_121909724

4 SubmittersRCV000017547RCV001851891RCV003466862
NM_002437.5(MPV17):c.186+2T>C SNV
Germline		 Chr2:27312992 Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE		 Criteria Provided
Multiple Submitters
No Conflicts
 CA319928 rs_147952488

5 SubmittersRCV000031903RCV000195573RCV003466880
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) SNV
Germline		 Chr2:27312753 Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MPV17-related mitochondrial DNA maintenance defect
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342971 rs_267607261

5 SubmittersRCV000031904RCV000735226RCV003227465RCV001385322RCV003460535
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) SNV
Germline		 Chr2:27312576 Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
MPV17-related disorder
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA322609 rs_267607258

15 SubmittersRCV000031911RCV000198122RCV000312148RCV000768420RCV002504849RCV003478980
NM_002437.5(MPV17):c.509C>T (p.Ser170Phe) SNV
Germline		 Chr2:27309934 Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342985 rs_267607260

2 SubmittersRCV000031914RCV003556092
NM_002437.5(MPV17):c.27G>T (p.Arg9=) SNV
Germline		 Chr2:27322491 Conflicting classifications of pathogenicity not specified
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome
Condition: not provided
MPV17-related disorder		 Criteria Provided
Conflicting Classifications
 CA201614 rs_35244252

6 SubmittersRCV000175725RCV000313755RCV000363815RCV000903706RCV004539630
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) SNV
Germline		 Chr2:27313059 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE		 Criteria Provided
Conflicting Classifications
 CA323686 rs_863224072

6 SubmittersRCV000855709RCV000734836RCV003468889
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) SNV
Germline		 Chr2:27312720 Conflicting classifications of pathogenicity not specified
Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MPV17-related disorder		 Criteria Provided
Conflicting Classifications
 CA1575619 rs_35759430

6 SubmittersRCV000319816RCV000766772RCV001142397RCV004543028
NM_002437.5(MPV17):c.61C>G (p.Leu21Val) SNV
Germline		 Chr2:27322457 Conflicting classifications of pathogenicity Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MPV17-related disorder		 Criteria Provided
Conflicting Classifications
 CA1575719 rs_200504529

4 SubmittersRCV000352417RCV001271668RCV004543039
NM_002437.5(MPV17):c.164T>C (p.Val55Ala) SNV
Germline		 Chr2:27313016 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome
Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		 Criteria Provided
Conflicting Classifications
 CA1575657 rs_575558175

3 SubmittersRCV000348274RCV000405655RCV001499817RCV003227480
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) SNV
Germline		 Chr2:27312768 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Mitochondrial DNA depletion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1575632 rs_375401970

12 SubmittersRCV000439109RCV000855706RCV003470380RCV003227483RCV003401418
NM_002437.5(MPV17):c.*12T>G SNV
Germline		 Chr2:27309900 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1575457 rs_201202659

2 SubmittersRCV001142392RCV001712274
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) SNV
Germline		 Chr2:27311899 Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16617524 rs_886044113

4 SubmittersRCV000485587RCV000625516RCV003470524
NM_002437.5(MPV17):c.408+1G>A SNV
Germline		 Chr2:27312213 Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1575532 rs_749361266

5 SubmittersRCV000479349RCV000763082RCV004568213
NM_002437.5(MPV17):c.375G>A (p.Arg125=) SNV
Germline		 Chr2:27312494 Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16617525 rs_1064793178

4 SubmittersRCV000480121RCV000761497
NM_002437.5(MPV17):c.376-1G>A SNV
Germline		 Chr2:27312247 Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Criteria Provided
Single Submitter
 CA346207630 rs_1423840146

1 SubmittersRCV000625520
NM_002437.5(MPV17):c.376-2A>C SNV
Germline		 Chr2:27312248 Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346207633 rs_113055360

3 SubmittersRCV000625519RCV003727787RCV004568340
NM_002437.5(MPV17):c.297T>A (p.Cys99Ter) SNV
Germline		 Chr2:27312572 Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Criteria Provided
Multiple Submitters
No Conflicts
 CA346208235 rs_1553383467

2 SubmittersRCV000625517
NM_002437.5(MPV17):c.275A>G (p.Asp92Gly) SNV
Germline		 Chr2:27312684 Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Criteria Provided
Multiple Submitters
No Conflicts
 CA346208452 rs_1057524366

2 SubmittersRCV000625514
NM_002437.5(MPV17):c.156G>A (p.Leu52=) SNV
Germline		 Chr2:27313024 Conflicting classifications of pathogenicity Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)		 Criteria Provided
Conflicting Classifications
 rs_142493907

3 SubmittersRCV000730371RCV001276352
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) SNV
Germline		 Chr2:27313058 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2EE
Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_140992482

13 SubmittersRCV000768421RCV000792530RCV002279731RCV003226382RCV003227501
NM_002437.5(MPV17):c.279+1G>T SNV
Germline		 Chr2:27312679 Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Criteria Provided
Multiple Submitters
No Conflicts
 rs_1572543564

2 SubmittersRCV000853234
NM_002437.5(MPV17):c.408T>G (p.Tyr136Ter) SNV
Unknown		 Chr2:27312214 Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Criteria Provided
Single Submitter
 rs_1572542511

1 SubmittersRCV000855711
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) SNV
Germline		 Chr2:27312681 Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_200938111

6 SubmittersRCV000855704RCV002272375
NM_002437.5(MPV17):c.130C>T (p.Gln44Ter) SNV
Unknown		 Chr2:27313050 Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Criteria Provided
Single Submitter
 rs_772370243

1 SubmittersRCV000855708
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro) SNV
Germline		 Chr2:27313073 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Criteria Provided
Conflicting Classifications
 rs_762327729

2 SubmittersRCV000855707
NM_002437.5(MPV17):c.67G>C (p.Ala23Pro) SNV
Unknown		 Chr2:27322451 Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Criteria Provided
Single Submitter
 rs_1572555080

1 SubmittersRCV000855703
NM_002437.5(MPV17):c.390C>G (p.Ala130=) SNV
Germline		 Chr2:27312232 Conflicting classifications of pathogenicity Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		 Criteria Provided
Conflicting Classifications
 rs_760281019

3 SubmittersRCV000877399RCV001142395RCV003227504
NM_002437.5(MPV17):c.277C>T (p.Gln93Ter) SNV
Unknown		 Chr2:27312682 Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Criteria Provided
Single Submitter
 rs_1679496794

1 SubmittersRCV001268962
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter) SNV
Germline		 Chr2:27311932 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, type 2EE		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_763400903

3 SubmittersRCV001376805RCV002499772RCV003469619
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) SNV
Germline		 Chr2:27312217 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_774833271

3 SubmittersRCV001825317RCV002473304
NM_002437.5(MPV17):c.263A>T (p.Lys88Met) SNV
Germline		 Chr2:27312696 Conflicting classifications of pathogenicity Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)		 Criteria Provided
Conflicting Classifications
 rs_756530281

3 SubmittersRCV002037482RCV004546675
NM_002437.5(MPV17):c.503A>G (p.Tyr168Cys) SNV
Germline		 Chr2:27309940 Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Criteria Provided
Single Submitter

1 SubmittersRCV003882754