Total 157 pathogenic variants reported for Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) SNV
Germline
Chr3:158646896 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA210484 rs_119470018

6 SubmittersRCV000004377RCV000657878

NM_024996.7(GFM1):c.139C>T (p.Arg47Ter) SNV
Germline
Chr3:158645686 Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA210485 rs_119470019

6 SubmittersRCV000004378RCV001207728

NM_024996.7(GFM1):c.1487T>G (p.Met496Arg) SNV
Germline
Chr3:158665443 Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 No Assertion Criteria Provided
CA210487 rs_119470020

1 SubmittersRCV000004379

NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) SNV
Germline
Chr3:158652154 Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Combined oxidative phosphorylation deficiency
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA210569 rs_139430866

11 SubmittersRCV000023564RCV000800330RCV000851197RCV003156063

NM_024996.7(GFM1):c.-38C>T SNV
Germline
Chr3:158644597 Conflicting classifications of pathogenicity not specified
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GFM1-related disorder
Criteria Provided
Conflicting Classifications
CA291068 rs_377352238

3 SubmittersRCV000125229RCV000389427RCV003925243

NM_024996.7(GFM1):c.3G>A (p.Met1Ile) SNV
Germline
Chr3:158644637 Pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Single Submitter
CA321080 rs_863224030

2 SubmittersRCV000196656RCV001273487

NM_024996.7(GFM1):c.235-14G>A SNV
Germline
Chr3:158646151 Conflicting classifications of pathogenicity not specified
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA322880 rs_201304690

3 SubmittersRCV000198372RCV000307563RCV002054327

NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) SNV
Germline
Chr3:158649090 Conflicting classifications of pathogenicity Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Conflicting Classifications
CA323024 rs_191462023

6 SubmittersRCV000198516RCV000764473

NM_024996.7(GFM1):c.688G>A (p.Gly230Ser) SNV
Germline
Chr3:158649156 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GFM1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA324294 rs_774456344

5 SubmittersRCV000199744RCV003330568RCV003417713

NM_024996.7(GFM1):c.690-5C>G SNV
Germline
Chr3:158652091 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Ovarian serous cystadenocarcinoma
Cervical cancer
Malignant tumor of esophagus
Familial pancreatic carcinoma
Gastric cancer
Lymphoma
Criteria Provided
Conflicting Classifications
CA321899 rs_201685981

7 SubmittersRCV000197431RCV000415998RCV001001208RCV005893502RCV005893498RCV005893497RCV005893499RCV005893500RCV005893501

NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) SNV
Germline
Chr3:158652106 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA323089 rs_863224032

4 SubmittersRCV000198570RCV000995549

NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) SNV
Germline
Chr3:158690264 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA321516 rs_201408725

9 SubmittersRCV000197077RCV000763507

NM_024996.7(GFM1):c.373G>A (p.Val125Met) SNV
Germline
Chr3:158646748 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
GFM1-related disorder
Criteria Provided
Conflicting Classifications
CA2682322 rs_200923387

5 SubmittersRCV000362292RCV000942298RCV004748738

NM_024996.7(GFM1):c.1324-15T>A SNV
Germline
Chr3:158662613 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
not specified
Condition: not provided
Familial pancreatic carcinoma
Criteria Provided
Conflicting Classifications
CA2682612 rs_375168014

4 SubmittersRCV000286924RCV000424127RCV002057852RCV005897627

NM_024996.7(GFM1):c.897C>T (p.Ser299=) SNV
Germline
Chr3:158653366 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2682451 rs_763546447

2 SubmittersRCV000280136RCV001453939

NM_024996.7(GFM1):c.56C>T (p.Ala19Val) SNV
Germline
Chr3:158644690 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
GFM1-related disorder
Criteria Provided
Conflicting Classifications
CA2682193 rs_567086019

5 SubmittersRCV000337390RCV000943185RCV003950210

NM_024996.7(GFM1):c.234+12C>T SNV
Germline
Chr3:158645793 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2682258 rs_372189223

2 SubmittersRCV000398325RCV002057851

NM_024996.7(GFM1):c.1083+3A>G SNV
Germline
Chr3:158654634 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2682500 rs_187690169

4 SubmittersRCV000341073RCV001636960RCV002523249

NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) SNV
Germline
Chr3:158662647 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
GFM1-related disorder
Criteria Provided
Conflicting Classifications
CA2682618 rs_146951325

5 SubmittersRCV000341858RCV000911472RCV003957777

NM_024996.7(GFM1):c.1831C>T (p.Leu611=) SNV
Germline
Chr3:158684590 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2683004 rs_190393538

3 SubmittersRCV000312996RCV001521349

NM_024996.7(GFM1):c.987C>A (p.Leu329=) SNV
Germline
Chr3:158653456 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2682465 rs_531887279

2 SubmittersRCV000376033RCV000933080

NM_024996.7(GFM1):c.1032C>T (p.Asn344=) SNV
Germline
Chr3:158654580 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2682491 rs_373952002

6 SubmittersRCV000281525RCV000429176RCV000952513

NM_024996.7(GFM1):c.2190C>T (p.Asp730=) SNV
Germline
Chr3:158691401 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2683128 rs_149049400

4 SubmittersRCV000275898RCV000913641

NM_024996.7(GFM1):c.1494A>G (p.Glu498=) SNV
Germline
Chr3:158665450 Conflicting classifications of pathogenicity Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Conflicting Classifications
CA2682670 rs_149454742

4 SubmittersRCV000897890RCV001148119

NM_024996.7(GFM1):c.689+908G>A SNV
Germline
Chr3:158650065 Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency
Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2682393 rs_751069628

5 SubmittersRCV000851196RCV001377165RCV003465353

NM_024996.7(GFM1):c.395A>C (p.Glu132Ala) SNV
Germline
Chr3:158646770 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355175789 rs_1553847587

1 SubmittersRCV000625929

NM_024996.7(GFM1):c.193C>A (p.Arg65=) SNV
Germline
Chr3:158645740 Conflicting classifications of pathogenicity Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Conflicting Classifications
CA2682243 rs_62286651

4 SubmittersRCV000676467RCV001148014

NM_024996.7(GFM1):c.1910-1G>A SNV
Germline
Chr3:158690162 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA355182232 rs_1462851267

2 SubmittersRCV000779396RCV005841628

NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter) SNV
Unknown
Chr2:223963907 Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA350809025 rs_1574796091

1 SubmittersRCV000791065

NM_024996.7(GFM1):c.193C>T (p.Arg65Ter) SNV
Germline
Chr3:158645740 Pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2682244 rs_62286651

2 SubmittersRCV000798054RCV003467367

NM_024996.7(GFM1):c.667A>G (p.Ile223Val) SNV
Germline
Chr3:158649135 Conflicting classifications of pathogenicity Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GFM1-related disorder
Criteria Provided
Conflicting Classifications
CA2682381 rs_143446452

4 SubmittersRCV000918367RCV001272459RCV003960371

NM_024996.7(GFM1):c.1305C>G (p.Ala435=) SNV
Germline
Chr3:158660957 Conflicting classifications of pathogenicity Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Conflicting Classifications
CA2682589 rs_141368418

3 SubmittersRCV000941272RCV001147221

NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) SNV
Germline
Chr3:158684581 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2683001 rs_762576741

4 SubmittersRCV000987349RCV002550600

NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) SNV
Germline
Chr3:158645647 Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2682224 rs_766234016

4 SubmittersRCV001002683RCV002549188

NM_024996.7(GFM1):c.248A>T (p.Asp83Val) SNV
Germline
Chr3:158646178 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA355175447 rs_1576721522

3 SubmittersRCV001002680RCV003769390RCV004702570

NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg) SNV
Germline
Chr3:158666331 Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355178541 rs_1576757241

1 SubmittersRCV001002682

NM_024996.7(GFM1):c.1571C>T (p.Ala524Val) SNV
Germline
Chr3:158666356 Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA2682701 rs_143031224

1 SubmittersRCV001002684

NM_024996.7(GFM1):c.661C>T (p.Arg221Ter) SNV
Germline
Chr3:158649129 Pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2682378 rs_780762234

2 SubmittersRCV001067025RCV003462600

NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter) SNV
Germline
Chr3:158690261 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355182558 rs_1402362655

5 SubmittersRCV001067859RCV003387961

NM_024996.7(GFM1):c.952C>T (p.Pro318Ser) SNV
Germline
Chr3:158653421 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
not specified
Criteria Provided
Conflicting Classifications
CA355177168 rs_1722463582

2 SubmittersRCV001089485RCV004702633

NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn) SNV
Germline
Chr3:158658956 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA86505734 rs_1023544297

2 SubmittersRCV001147219RCV005572478

NM_024996.7(GFM1):c.324C>A (p.Tyr108Ter) SNV
Germline
Chr3:158646254 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355175613 rs_1391874523

2 SubmittersRCV001204850RCV004570433

NM_024996.7(GFM1):c.1601+1G>A SNV
Germline
Chr3:158666387 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2682708 rs_748116978

2 SubmittersRCV001210116RCV003462703

NM_024996.7(GFM1):c.1221+20G>A SNV
Germline
Chr3:158659079 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA436483930 rs_1412836196

2 SubmittersRCV001329385RCV003727981

NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter) SNV
Unknown
Chr3:158662628 Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355178041 rs_757691557

1 SubmittersRCV001329386

NM_024996.7(GFM1):c.81+1G>A SNV
Germline
Chr3:158644716 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355175071 rs_1262218849

4 SubmittersRCV001378369RCV001831352

NM_024996.7(GFM1):c.573-1G>C SNV
Germline
Chr3:158649040 Conflicting classifications of pathogenicity Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Leigh syndrome
Criteria Provided
Conflicting Classifications
CA355176176 rs_2108009356

6 SubmittersRCV001379654RCV001831371RCV005361584

NM_024996.7(GFM1):c.999-1G>A SNV
Germline
Chr3:158654546 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355177283 rs_757524798

4 SubmittersRCV001377804RCV001836383

NM_024996.7(GFM1):c.1910-2A>T SNV
Germline
Chr3:158690161 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355182231 rs_867885977

4 SubmittersRCV001377756RCV001826130

NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter) SNV
Germline
Chr3:158658928 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2682535 rs_775919783

3 SubmittersRCV001389333RCV003463027

NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter) SNV
Germline
Chr3:158666361 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA86513895 rs_1004779078

4 SubmittersRCV001381644RCV001831380

NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln) SNV
Germline
Chr3:158684582 Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2683002 rs_541171482

3 SubmittersRCV001449604RCV001865913

NM_024996.7(GFM1):c.409G>A (p.Val137Met) SNV
Germline
Chr3:158646784 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA2682326 rs_767325554

2 SubmittersRCV001449659

NM_024996.7(GFM1):c.1383C>T (p.Asn461=) SNV
Germline
Chr3:158665339 Conflicting classifications of pathogenicity Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Conflicting Classifications
CA2682646 rs_774976760

2 SubmittersRCV001480040RCV001563842

NM_024996.7(GFM1):c.344A>G (p.Asn115Ser) SNV
Germline
Chr3:158646274 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Inborn genetic diseases
Thymoma
Criteria Provided
Conflicting Classifications
CA2682299 rs_779253646

4 SubmittersRCV001563841RCV002072149RCV002568428RCV005917504

NM_024996.7(GFM1):c.2143A>G (p.Met715Val) SNV
Germline
Chr3:158691354 Conflicting classifications of pathogenicity Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Conflicting Classifications
CA2683119 rs_147620098

3 SubmittersRCV001665161RCV001827557

NM_024996.7(GFM1):c.1764+2T>C SNV
Germline
Chr3:158682159 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355181314 rs_1725442904

1 SubmittersRCV003989093

NM_024996.7(GFM1):c.69G>A (p.Trp23Ter) SNV
Germline
Chr3:158644703 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2682196 rs_763344414

2 SubmittersRCV001941657RCV003464295

NM_024996.7(GFM1):c.689+1G>A SNV
Germline
Chr3:158649158 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355176439 rs_1449057162

2 SubmittersRCV002029942RCV003464159

NM_024996.7(GFM1):c.850C>T (p.Arg284Ter) SNV
Germline
Chr3:158653319 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2682447 rs_771890880

3 SubmittersRCV002000204RCV003471142

NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter) SNV
Germline
Chr3:158684641 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA86528431 rs_889180452

2 SubmittersRCV002000104RCV003471141

NM_024996.7(GFM1):c.910A>G (p.Lys304Glu) SNV
Germline
Chr3:158653379 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA86500938 rs_760266828

2 SubmittersRCV002044178RCV005023284

NM_024996.7(GFM1):c.532C>T (p.Arg178Ter) SNV
Germline
Chr3:158646907 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355176077 rs_1721865059

2 SubmittersRCV001942340RCV003464305

NM_024996.7(GFM1):c.1765-2A>G SNV
Germline
Chr3:158684522 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA355181826 rs_2108102423

2 SubmittersRCV003471216RCV001973042

NM_024996.7(GFM1):c.1642C>T (p.Gln548Ter) SNV
Germline
Chr3:158682035 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355181033 rs_1214047183

2 SubmittersRCV001951507RCV004571752

NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter) SNV
Germline
Chr3:158659024 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355177710 rs_1332636394

2 SubmittersRCV001963289RCV003464329

NM_024996.7(GFM1):c.1380+1G>T SNV
Germline
Chr3:158662685 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355178159 rs_1456835520

2 SubmittersRCV002024883RCV005025666

NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg) SNV
Germline
Chr3:158691378 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA2683123 rs_750287727

1 SubmittersRCV003233002

NM_024996.7(GFM1):c.1380+2T>G SNV
Germline
Chr3:158662686 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Malignant tumor of urinary bladder
Criteria Provided
Multiple Submitters
No Conflicts
CA2682628 rs_760290078

3 SubmittersRCV003063372RCV003459734RCV005930384

NM_024996.7(GFM1):c.368-2A>G SNV
Germline
Chr3:158646741 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355175724 rs_1416173655

2 SubmittersRCV003065787RCV003465945

NM_024996.7(GFM1):c.307C>T (p.Gln103Ter) SNV
Germline
Chr3:158646237 Pathogenic/Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355175578 rs_756718556

2 SubmittersRCV002756445RCV005027946

NM_024996.7(GFM1):c.1380+1G>A SNV
Germline
Chr3:158662685 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355178157 rs_1456835520

2 SubmittersRCV003061825RCV005028135

NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter) SNV
Germline
Chr3:158665472 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Multiple Submitters
No Conflicts
CA355178464 rs_2108051038

2 SubmittersRCV003461687

NM_024996.7(GFM1):c.367+1G>A SNV
Unknown
Chr3:158646298 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355175718 rs_2473938802

1 SubmittersRCV003461688

NM_024996.7(GFM1):c.787C>T (p.Gln263Ter) SNV
Germline
Chr3:158652193 Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA355176801 rs_2473961042

2 SubmittersRCV003468267RCV003699108

NM_024996.7(GFM1):c.1909+2T>A SNV
Unknown
Chr3:158684670 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355182227 rs_1725682836

1 SubmittersRCV003461691

NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter) SNV
Unknown
Chr3:158652111 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355176624 rs_201360324

1 SubmittersRCV003461692

NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro) SNV
Germline
Chr3:158659031 Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
not specified
Criteria Provided
Conflicting Classifications
CA355177723 rs_2473986037

3 SubmittersRCV003468269RCV004587497

NM_024996.7(GFM1):c.573-2A>G SNV
Unknown
Chr3:158649039 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA86497806 rs_529233762

1 SubmittersRCV003461694

NM_024996.7(GFM1):c.368-2A>C SNV
Unknown
Chr3:158646741 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355175723 rs_1416173655

1 SubmittersRCV003468271

NM_024996.7(GFM1):c.929T>G (p.Leu310Ter) SNV
Unknown
Chr3:158653398 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355177119 rs_2473966537

1 SubmittersRCV003461699

NM_024996.7(GFM1):c.1381-1G>C SNV
Unknown
Chr3:158665336 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355178166 rs_1263302192

1 SubmittersRCV003468272

NM_024996.7(GFM1):c.999-1G>C SNV
Unknown
Chr3:158654546 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA2682487 rs_757524798

1 SubmittersRCV003468275

NM_024996.7(GFM1):c.725T>G (p.Leu242Ter) SNV
Germline
Chr3:158652131 Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA355176671 rs_2473960497

2 SubmittersRCV003461702RCV003661061

NM_024996.7(GFM1):c.527T>A (p.Leu176Ter) SNV
Unknown
Chr3:158646902 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355176064 rs_1314096195

1 SubmittersRCV003461704

NM_024996.7(GFM1):c.689+2T>C SNV
Unknown
Chr3:158649159 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355176444 rs_2473949734

1 SubmittersRCV003468277

NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter) SNV
Unknown
Chr3:158646254 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
CA355175614 rs_1391874523

1 SubmittersRCV003461706

NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter) SNV
Germline
Chr3:158690234 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Multiple Submitters
No Conflicts
CA355182450 rs_2473064367

2 SubmittersRCV003468280

NM_024996.7(GFM1):c.2070+1G>A SNV
Germline
Chr3:158690324 Likely pathogenic Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA355182812 rs_200697129

2 SubmittersRCV003558302RCV004574120

NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter) SNV
Unknown
Chr3:158666333 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
rs_2474011501

1 SubmittersRCV004576681

NM_024996.7(GFM1):c.2097T>G (p.Tyr699Ter) SNV
Unknown
Chr3:158691165 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
rs_955729561

1 SubmittersRCV004576683

NM_024996.7(GFM1):c.1083+1G>C SNV
Unknown
Chr3:158654632 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
rs_768006278

1 SubmittersRCV004576684

NM_024996.7(GFM1):c.2125-1G>A SNV
Unknown
Chr3:158691335 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter
rs_1437640913

1 SubmittersRCV004576685

NM_024996.7(GFM1):c.1084-2A>G SNV
Germline
Chr3:158658920 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005031317

NM_024996.7(GFM1):c.1324-2A>G SNV
Germline
Chr3:158662626 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005031318

NM_024996.7(GFM1):c.1380+1G>C SNV
Germline
Chr3:158662685 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005031319

NM_024996.7(GFM1):c.998+1G>T SNV
Germline
Chr3:158653468 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 No Assertion Criteria Provided

1 SubmittersRCV005615948

NM_024996.7(GFM1):c.1727C>G (p.Ser576Ter) SNV
Germline
Chr3:158682120 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 No Assertion Criteria Provided

1 SubmittersRCV005615949

NM_024996.7(GFM1):c.70C>T (p.Gln24Ter) SNV
Germline
Chr3:158644704 Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 No Assertion Criteria Provided

1 SubmittersRCV005615972