Total 80 pathogenic variants reported for Fetal akinesia deformation sequence 3 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) SNV
Germline		 Chr4:3485607 Pathogenic Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251739 rs_118203995

5 SubmittersRCV000001341RCV001851535RCV001781161RCV004566668RCV005024984
NM_173660.5(DOK7):c.455G>A (p.Trp152Ter) SNV
Germline		 Chr4:3476465 Likely pathogenic Fetal akinesia deformation sequence 3 No Assertion Criteria Provided
 CA91532427 rs_150376433

1 SubmittersRCV001795816
NM_173660.5(DOK7):c.513C>T (p.Gly171=) SNV
Germline		 Chr4:3476523 Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome
Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2829017 rs_775583136

5 SubmittersRCV000679965RCV005034033RCV003470614RCV002282177RCV000493977RCV001036855
NM_173660.5(DOK7):c.331+1G>T SNV
Germline		 Chr4:3473637 Pathogenic Congenital myasthenic syndrome 10
Condition: not provided
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome
DOK7-related disorder
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356113804 rs_1349476281

8 SubmittersRCV000001343RCV000520261RCV000767366RCV003479149RCV003403229RCV003766941
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) SNV
Germline		 Chr4:3493493 Conflicting classifications of pathogenicity Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3		 Criteria Provided
Conflicting Classifications
 CA2829557 rs_184556570

7 SubmittersRCV000531626RCV001086530RCV004024008RCV005357588RCV002491019
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) SNV
Germline		 Chr4:3476447 Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2828996 rs_770987150

3 SubmittersRCV001228448RCV000679963RCV005056424RCV002290973RCV003465547
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) SNV
Germline		 Chr4:3476491 Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10
Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome		 Criteria Provided
Conflicting Classifications
 CA2829010 rs_758131044

6 SubmittersRCV000679964RCV001784303RCV000797959RCV003459654RCV004579559
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) SNV
Germline		 Chr4:3476524 Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1
Condition: not provided
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2829019 rs_768892432

5 SubmittersRCV000679966RCV001269756RCV003459655RCV004768550RCV001390615RCV004760698
NM_173660.5(DOK7):c.193C>T (p.Leu65=) SNV
Germline		 Chr4:3473498 Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1		 Criteria Provided
Conflicting Classifications
 CA2828904 rs_546630800

2 SubmittersRCV002480442RCV001071236
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) SNV
Germline		 Chr4:3476490 Pathogenic Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided
Fetal akinesia deformation sequence 3
DOK7-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356114414 rs_550024569

4 SubmittersRCV001222325RCV001780148RCV003462755RCV004753239
NM_173660.5(DOK7):c.415G>C (p.Val139Leu) SNV
Germline		 Chr4:3476425 Likely pathogenic Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356114281 rs_571769859

3 SubmittersRCV001213559RCV003469358RCV005057105
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg) SNV
Germline		 Chr4:3476506 Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2829014 rs_781227659

4 SubmittersRCV001212330RCV003469353RCV004690017RCV005411677
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr) SNV
Germline		 Chr4:3493304 Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3		 Criteria Provided
Conflicting Classifications
 CA2829462 rs_753026831

3 SubmittersRCV001246102RCV003145485RCV004727043
NM_173660.5(DOK7):c.653-1G>C SNV
Germline		 Chr4:3489676 Likely pathogenic Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3		 Criteria Provided
Single Submitter
 rs_1449351306

1 SubmittersRCV005027329
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro) SNV
Germline		 Chr4:3492905 Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA356116347 rs_150415034

3 SubmittersRCV001352321RCV001824956RCV005330744
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter) SNV
Germline		 Chr4:3493253 Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356117660 rs_1728650830

2 SubmittersRCV001387589RCV003469734
NM_173660.5(DOK7):c.332-1G>A SNV
Germline		 Chr4:3476341 Likely pathogenic Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356114061 rs_1490214819

2 SubmittersRCV002037309RCV003464158
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser) SNV
Germline		 Chr4:3493313 Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3		 Criteria Provided
Conflicting Classifications
 CA91557425 rs_748946433

2 SubmittersRCV002042295RCV004728856
NM_173660.5(DOK7):c.414C>T (p.Leu138=) SNV
Germline		 Chr4:3476424 Likely pathogenic Condition: not provided
Fetal akinesia deformation sequence 3
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2828993 rs_771995943

4 SubmittersRCV002281329RCV003471305RCV003774920RCV003331339
NM_173660.5(DOK7):c.68G>A (p.Trp23Ter) SNV
Germline		 Chr4:3463519 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA356112083 rs_2109312461

1 SubmittersRCV003232996
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter) SNV
Germline		 Chr4:3476461 Likely pathogenic Congenital myasthenic syndrome
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome 10		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2829001 rs_763262694

3 SubmittersRCV002470160RCV003475390RCV003340496
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser) SNV
Germline		 Chr4:3476389 Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome
Congenital myasthenic syndrome 10		 Criteria Provided
Conflicting Classifications
 CA2828984 rs_763494431

4 SubmittersRCV002876544RCV004571404RCV004765582RCV005409895
NM_173660.5(DOK7):c.332-1G>C SNV
Germline		 Chr4:3476341 Likely pathogenic Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356114063 rs_1490214819

3 SubmittersRCV003144810RCV003778833RCV004577034
NM_173660.5(DOK7):c.746C>G (p.Ser249Ter) SNV
Unknown		 Chr4:3489770 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA356115701 rs_1286718786

1 SubmittersRCV003475586
NM_173660.5(DOK7):c.976C>T (p.Gln326Ter) SNV
Unknown		 Chr4:3492962 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA356116569 rs_2475111580

1 SubmittersRCV003466212
NM_173660.5(DOK7):c.872C>G (p.Ser291Ter) SNV
Unknown		 Chr4:3492858 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA356116176 rs_2475110434

1 SubmittersRCV003466216
NM_173660.5(DOK7):c.1185C>G (p.Tyr395Ter) SNV
Unknown		 Chr4:3493171 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA356117513 rs_6850908

1 SubmittersRCV003459984
NM_173660.5(DOK7):c.1164C>A (p.Cys388Ter) SNV
Unknown		 Chr4:3493150 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA356117476 rs_763619811

1 SubmittersRCV003466217
NM_173660.5(DOK7):c.851G>A (p.Trp284Ter) SNV
Unknown		 Chr4:3492837 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA356116084 rs_2475110217

1 SubmittersRCV003475587
NM_173660.5(DOK7):c.1417G>T (p.Glu473Ter) SNV
Unknown		 Chr4:3493403 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA356117923 rs_1359635065

1 SubmittersRCV003466223
NM_173660.5(DOK7):c.682G>T (p.Glu228Ter) SNV
Unknown		 Chr4:3489706 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA356115398 rs_768526890

1 SubmittersRCV003466225
NM_173660.5(DOK7):c.884C>G (p.Ser295Ter) SNV
Unknown		 Chr4:3492870 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA356116220 rs_2475110558

1 SubmittersRCV003466226
NM_173660.5(DOK7):c.944C>G (p.Ser315Ter) SNV
Unknown		 Chr4:3492930 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 CA91556508 rs_898501852

1 SubmittersRCV003466227
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter) SNV
Germline		 Chr4:3493222 Pathogenic Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356117608 rs_556834250

2 SubmittersRCV003781026RCV004573305
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter) SNV
Germline		 Chr4:3493364 Pathogenic Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356117858 rs_1355424790

2 SubmittersRCV003781027RCV004573306
NM_173660.5(DOK7):c.886C>T (p.Gln296Ter) SNV
Germline		 Chr4:3492872 Likely pathogenic Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1460112018

2 SubmittersRCV005023577RCV004575831
NM_173660.5(DOK7):c.653-3C>G SNV
Unknown		 Chr4:3489674 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 rs_767745850

1 SubmittersRCV004575833
NM_173660.5(DOK7):c.685G>T (p.Glu229Ter) SNV
Unknown		 Chr4:3489709 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 rs_768915955

1 SubmittersRCV004575837
NM_173660.5(DOK7):c.1424G>A (p.Trp475Ter) SNV
Unknown		 Chr4:3493410 Likely pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 rs_2475117449

1 SubmittersRCV004575839
NM_173660.5(DOK7):c.773-2A>G SNV
Unknown		 Chr4:3492757 Pathogenic Fetal akinesia deformation sequence 3 Criteria Provided
Single Submitter
 rs_1229979805

1 SubmittersRCV004575840