Total 282 pathogenic variants reported for Asphyxiating thoracic dystrophy 3 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) SNV
Germline
Chr11:103177652 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA210494 rs_137853025

4 SubmittersRCV000006873RCV003586122

NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) SNV
Germline
Chr11:103304601 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA210496 rs_137853026

13 SubmittersRCV000006874RCV000516063RCV000726973RCV004766983

NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) SNV
Germline
Chr11:103220720 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Bowing of the long bones
Narrow chest
Fetal growth restriction
Short rib-polydactyly syndrome
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA210499 rs_137853027

22 SubmittersRCV000006876RCV000224348RCV000386710RCV000415231RCV000292391RCV003924807

NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) SNV
Germline
Chr11:103155476 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA210501 rs_137853028

3 SubmittersRCV000006877RCV003586123

NM_001377.3(DYNC2H1):c.10042G>T (p.Gly3348Ter) SNV
Germline
Chr11:103245374 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA210503 rs_137853029

1 SubmittersRCV000006878

NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) SNV
Germline
Chr11:103125197 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA210505 rs_137853030

7 SubmittersRCV000006879RCV001851709

NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) SNV
Germline
Chr11:103185032 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA210507 rs_137853031

7 SubmittersRCV000006880RCV000515877RCV000756059

NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) SNV
Germline
Chr11:103209933 Pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA210509 rs_137853032

5 SubmittersRCV000006881RCV002512856

NM_001377.3(DYNC2H1):c.5151+1G>T SNV
Germline
Chr11:103170291 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA210513 rs_431905499

1 SubmittersRCV000006883

NM_001377.3(DYNC2H1):c.4610A>G (p.Gln1537Arg) SNV
Germline
Chr11:103163146 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA210514 rs_137853033

1 SubmittersRCV000006884

NM_001377.3(DYNC2H1):c.7382G>T (p.Gly2461Val) SNV
Germline
Chr11:103189761 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA210516 rs_137853034

1 SubmittersRCV000006885

NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) SNV
Germline
Chr11:103177640 Likely pathogenic Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA210518 rs_137853035

3 SubmittersRCV000006886RCV000520054

NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) SNV
Germline
Chr11:103199373 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
CA210575 rs_397514635

4 SubmittersRCV000033158

NM_001377.3(DYNC2H1):c.7486C>T (p.Pro2496Ser) SNV
Germline
Chr11:103191565 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA210577 rs_397514636

1 SubmittersRCV000033159

NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) SNV
Germline
Chr11:103117852 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA210579 rs_397514637

5 SubmittersRCV000033160RCV000515863

NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) SNV
Germline
Chr11:103176255 Conflicting classifications of pathogenicity not specified
Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA233920 rs_150887098

8 SubmittersRCV000153167RCV000167971RCV000723911RCV000764930RCV003937422

NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) SNV
Germline
Chr11:103109607 Conflicting classifications of pathogenicity Condition: not provided
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA238657 rs_373977008

4 SubmittersRCV000173202RCV000260836RCV001094004RCV000316090

NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) SNV
Germline
Chr11:103153387 Conflicting classifications of pathogenicity Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Intellectual disability
not specified
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA242179 rs_200466720

8 SubmittersRCV000723955RCV001104213RCV001086230RCV001251985RCV001818424RCV003917636

NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) SNV
Germline
Chr11:103158741 Conflicting classifications of pathogenicity Condition: not provided
Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA242757 rs_371259464

3 SubmittersRCV000176722RCV000340322RCV000402861RCV001094032

NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) SNV
Germline
Chr11:103358285 Conflicting classifications of pathogenicity Condition: not provided
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA247890 rs_202216852

6 SubmittersRCV000180421RCV000342139RCV000380404RCV001308566RCV004816311

NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) SNV
Germline
Chr11:103435986 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3
not specified
Criteria Provided
Conflicting Classifications
CA247899 rs_761765709

7 SubmittersRCV000228783RCV000486569RCV001105946RCV004586603

NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) SNV
Germline
Chr11:103177728 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Type IV short rib polydactyly syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA337424 rs_200190291

10 SubmittersRCV000197773RCV001104104RCV000516059RCV000757203RCV003155119

NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) SNV
Germline
Chr11:103223030 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Condition: not provided
not specified
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA336633 rs_180787556

5 SubmittersRCV000196693RCV000340509RCV000756051RCV000324546RCV001093929

NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) SNV
Germline
Chr11:103236534 Conflicting classifications of pathogenicity not specified
Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA337070 rs_200342335

6 SubmittersRCV000413384RCV000756057RCV001104604RCV001086170RCV003927852

NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) SNV
Germline
Chr11:103323958 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
not specified
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA337431 rs_61737514

4 SubmittersRCV000197780RCV000613683RCV000285064RCV001093935

NM_001377.3(DYNC2H1):c.2702+1G>A SNV
Germline
Chr11:103143396 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
CA348357 rs_864622358

2 SubmittersRCV000204107RCV003330580

NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) SNV
Germline
Chr11:103155422 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Condition: not provided
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA349219 rs_201194631

8 SubmittersRCV000205052RCV000356294RCV001094012RCV001572773RCV002517378RCV004816356

NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) SNV
Germline
Chr11:103259930 Pathogenic/Likely pathogenic Inborn genetic diseases
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
DYNC2H1-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA358022 rs_200460601

6 SubmittersRCV000210575RCV000799119RCV001333710RCV001560184RCV004742333RCV004816358

NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) SNV
Germline
Chr11:103135727 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA382260189 rs_755883373

2 SubmittersRCV000490314RCV002517442

NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) SNV
Germline
Chr11:103155439 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
not specified
Condition: not provided
Clinodactyly of the 5th finger
Cough
Anomalous origin of coronary artery from the pulmonary artery
Asphyxiating thoracic dystrophy 3
Optic atrophy
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA6253373 rs_189806840

16 SubmittersRCV000231556RCV000406282RCV000726077RCV000735390RCV001106985RCV004816439RCV004816438

NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) SNV
Germline
Chr11:103173242 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
CA10582778 rs_754919042

2 SubmittersRCV000228263RCV003454712

NM_152773.5(DYNLT2B):c.317+4A>T SNV
Germline
Chr3:196306939 Pathogenic Asphyxiating thoracic dystrophy 3
Short-rib thoracic dysplasia 17 with or without polydactyly
Criteria Provided
Single Submitter
CA10588959 rs_886039815

1 SubmittersRCV000256484RCV004021043

NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg) SNV
Germline
Chr11:103155395 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
CA10588967 rs_886039812

1 SubmittersRCV000256416

NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter) SNV
Germline
Chr19:38407003 Likely pathogenic Asphyxiating thoracic dystrophy 3
Autism spectrum disorder
No Assertion Criteria Provided
CA9415017 rs_201037487

2 SubmittersRCV000256417RCV003313949

NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe) SNV
Germline
Chr11:103456289 Conflicting classifications of pathogenicity Condition: not provided
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA10603853 rs_886042136

3 SubmittersRCV000388017RCV001331563

NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) SNV
Germline
Chr11:103153376 Conflicting classifications of pathogenicity Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6253271 rs_191381310

7 SubmittersRCV000278291RCV000332147RCV000389075

NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His) SNV
Germline
Chr11:103156437 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6253416 rs_200635842

4 SubmittersRCV000276292RCV000333726RCV000725495RCV002059157

NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) SNV
Germline
Chr11:103209902 Conflicting classifications of pathogenicity Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6254466 rs_370627443

6 SubmittersRCV000725554RCV001082732RCV001107258

NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) SNV
Germline
Chr11:103121495 Conflicting classifications of pathogenicity not specified
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6252780 rs_202233363

7 SubmittersRCV000289184RCV000860672RCV001105762RCV001718586RCV003940047

NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu) SNV
Germline
Chr11:103479238 Conflicting classifications of pathogenicity Condition: not provided
Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Inborn genetic diseases
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6255711 rs_191971137

5 SubmittersRCV000259300RCV000322811RCV000377480RCV002522011RCV002059278

NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) SNV
Germline
Chr11:103170186 Conflicting classifications of pathogenicity not specified
Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6253683 rs_201563576

6 SubmittersRCV000334410RCV000726544RCV001088693RCV001332760RCV002522036RCV003967802

NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly) SNV
Germline
Chr11:103176358 Conflicting classifications of pathogenicity Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6253835 rs_201829296

5 SubmittersRCV000346343RCV001078803RCV001332762RCV002518147RCV004742371

NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) SNV
Germline
Chr11:103253441 Conflicting classifications of pathogenicity Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA6254910 rs_775615484

5 SubmittersRCV000268031RCV000544278RCV001107351RCV002518148RCV004816516

NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu) SNV
Germline
Chr11:103456351 Conflicting classifications of pathogenicity Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6255630 rs_142920070

6 SubmittersRCV000348431RCV001505716RCV003144196RCV002519356RCV004725149

NM_001377.3(DYNC2H1):c.195+7T>C SNV
Germline
Chr11:103109776 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
not specified
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6252404 rs_112718117

7 SubmittersRCV000294768RCV000417608RCV000389309RCV001094005RCV001573530

NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) SNV
Germline
Chr11:103113632 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA6252442 rs_377529350

4 SubmittersRCV000288024RCV000404648RCV003391062RCV004816539

NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) SNV
Germline
Chr11:103135533 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6252992 rs_373707570

4 SubmittersRCV000321465RCV000373741RCV000831514RCV001820882

NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=) SNV
Germline
Chr11:103155492 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
not specified
Jeune thoracic dystrophy
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6253380 rs_377584612

4 SubmittersRCV000298010RCV000355149RCV000601156RCV002056167RCV003950013

NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) SNV
Germline
Chr11:103168951 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6253662 rs_201863754

2 SubmittersRCV000324326RCV000376673

NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) SNV
Germline
Chr11:103173219 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA10629727 rs_886047564

2 SubmittersRCV000307675RCV000406056

NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) SNV
Germline
Chr11:103174138 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
not specified
Criteria Provided
Conflicting Classifications
CA6253806 rs_199541807

4 SubmittersRCV000260188RCV000354946RCV000506609

NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) SNV
Germline
Chr11:103176353 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Neonatal respiratory distress
Optic atrophy
Criteria Provided
Conflicting Classifications
CA6253833 rs_185504536

8 SubmittersRCV000345802RCV000381704RCV001093954RCV001526643RCV004816540

NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn) SNV
Germline
Chr11:103191541 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6254244 rs_201825699

3 SubmittersRCV000336961RCV000403491RCV002056168RCV000756056

NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val) SNV
Germline
Chr11:103203758 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6254426 rs_199503535

2 SubmittersRCV000280119RCV000379302

NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) SNV
Germline
Chr11:103243738 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA6254816 rs_200326353

4 SubmittersRCV000276087RCV000333523RCV001706449RCV004816543

NM_001377.3(DYNC2H1):c.12456+7C>T SNV
Germline
Chr11:103436039 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6255559 rs_372189534

2 SubmittersRCV000318716RCV000373322RCV003748221

NM_001377.3(DYNC2H1):c.12457-13T>C SNV
Germline
Chr11:103455173 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6255571 rs_537890566

2 SubmittersRCV000259895RCV000324456RCV002056171

NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=) SNV
Germline
Chr11:103455224 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6255588 rs_202199079

2 SubmittersRCV000339422RCV000384586RCV002520667

NM_001377.3(DYNC2H1):c.*211A>G SNV
Germline
Chr11:103479464 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA10629744 rs_148091830

1 SubmittersRCV000273036RCV000328084

NM_001377.3(DYNC2H1):c.366+10G>A SNV
Germline
Chr11:103113717 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6252466 rs_200257097

2 SubmittersRCV000303471RCV000358300

NM_001377.3(DYNC2H1):c.1000-7A>G SNV
Germline
Chr11:103120440 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA10633182 rs_745325616

2 SubmittersRCV000291064RCV000383108

NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) SNV
Germline
Chr11:103120939 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
not specified
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6252728 rs_142881106

7 SubmittersRCV000298665RCV000369703RCV000431766RCV000766586RCV001820881RCV003930276

NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=) SNV
Germline
Chr11:103122845 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6252806 rs_754192939

2 SubmittersRCV000329334RCV000362969RCV002522174

NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) SNV
Germline
Chr11:103154567 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6253314 rs_201043335

4 SubmittersRCV000292379RCV000349630RCV001093957RCV002281082

NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=) SNV
Germline
Chr11:103156645 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA10633191 rs_886047562

2 SubmittersRCV000328244RCV000385075RCV003586176

NM_001377.3(DYNC2H1):c.4127+10A>G SNV
Germline
Chr11:103156780 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6253466 rs_369188420

3 SubmittersRCV000282874RCV000379732RCV002520663

NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser) SNV
Germline
Chr11:103170946 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6253725 rs_370669724

2 SubmittersRCV000281964RCV000371817

NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=) SNV
Germline
Chr11:103171047 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6253735 rs_144553338

2 SubmittersRCV000336896RCV000392514RCV002522176

NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) SNV
Germline
Chr11:103173258 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6253777 rs_201953670

2 SubmittersRCV000362121RCV000402496

NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) SNV
Germline
Chr11:103188499 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6254172 rs_79832792

4 SubmittersRCV000300852RCV000391791RCV001706448RCV001094018

NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=) SNV
Germline
Chr11:103198006 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA10633204 rs_886047566

2 SubmittersRCV000272195RCV000362360

NM_001377.3(DYNC2H1):c.8311+10A>G SNV
Germline
Chr11:103203786 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6254430 rs_376842066

3 SubmittersRCV000316619RCV000375814RCV003957569

NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu) SNV
Germline
Chr11:103204875 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
not specified
Jeune thoracic dystrophy
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA6254448 rs_184910011

4 SubmittersRCV000296242RCV000390865RCV000507317RCV002056169RCV004816542

NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) SNV
Germline
Chr11:103245271 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6254837 rs_192003811

6 SubmittersRCV000269938RCV000380832RCV000756052RCV000727890

NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) SNV
Germline
Chr11:103283040 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6255083 rs_187451323

4 SubmittersRCV000295904RCV000343805RCV001093934RCV003957570

NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) SNV
Germline
Chr11:103303235 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
not specified
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6255184 rs_78599571

5 SubmittersRCV000289052RCV000599983RCV000381067RCV001093989RCV003930278

NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) SNV
Germline
Chr11:103399760 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
not specified
Criteria Provided
Conflicting Classifications
CA6255498 rs_115480556

4 SubmittersRCV000311028RCV000393092RCV000602673

NM_001377.3(DYNC2H1):c.1134+8A>G SNV
Germline
Chr11:103120589 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Condition: not provided
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6252684 rs_138290301

3 SubmittersRCV000281528RCV000406367RCV000734380RCV001093950

NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val) SNV
Germline
Chr11:103135853 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6253048 rs_201224700

4 SubmittersRCV000312587RCV000346432RCV003456390RCV002522175

NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) SNV
Germline
Chr11:103152201 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Jeune thoracic dystrophy
not specified
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6253238 rs_202082545

5 SubmittersRCV000260715RCV000371754RCV000605993RCV003615834

NM_001377.3(DYNC2H1):c.4611+14C>T SNV
Germline
Chr11:103163161 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6253594 rs_766124250

2 SubmittersRCV000312391RCV000364772

NM_001377.3(DYNC2H1):c.6139+7C>T SNV
Germline
Chr11:103177827 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6253900 rs_200749262

2 SubmittersRCV000291914RCV000346872

NM_001377.3(DYNC2H1):c.8833-3T>C SNV
Germline
Chr11:103219912 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6254552 rs_551227065

3 SubmittersRCV000316951RCV000353101RCV002272208

NM_001377.3(DYNC2H1):c.8946+10A>C SNV
Germline
Chr11:103220038 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
not specified
Criteria Provided
Conflicting Classifications
CA6254567 rs_550521675

3 SubmittersRCV000262812RCV000317928RCV001820883

NM_001377.3(DYNC2H1):c.9231+12G>A SNV
Germline
Chr11:103222165 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
not specified
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6254629 rs_369045696

4 SubmittersRCV000290173RCV000393602RCV000427164RCV003910104

NM_001377.3(DYNC2H1):c.10043-7T>A SNV
Germline
Chr11:103253278 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6254876 rs_376067770

5 SubmittersRCV000286468RCV000378511RCV000731907

NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met) SNV
Germline
Chr11:103283071 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Jeune thoracic dystrophy
not specified
Inborn genetic diseases
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6255093 rs_201852557

5 SubmittersRCV000365937RCV000404875RCV002056170RCV001820884RCV002520665RCV003977870

NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) SNV
Germline
Chr11:103316598 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6255349 rs_144624858

4 SubmittersRCV000277569RCV000369823RCV001705450

NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu) SNV
Germline
Chr11:103321232 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6255397 rs_757571550

3 SubmittersRCV000325509RCV000382475RCV004975425

NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) SNV
Germline
Chr11:103479194 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
not specified
Criteria Provided
Conflicting Classifications
CA6255705 rs_144717489

4 SubmittersRCV000267688RCV000353080RCV000440014

NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val) SNV
Germline
Chr11:103120454 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Inborn genetic diseases
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Intellectual disability
Criteria Provided
Conflicting Classifications
CA6252667 rs_182506343

5 SubmittersRCV000327096RCV000379403RCV002520661RCV001093949RCV003417982RCV001251986

NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) SNV
Germline
Chr11:103135924 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6253059 rs_375307767

3 SubmittersRCV000306769RCV000394066RCV001552582

NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) SNV
Germline
Chr11:103155417 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Short rib-polydactyly syndrome
not specified
Condition: not provided
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6253369 rs_118191062

6 SubmittersRCV000343361RCV000304894RCV000440654RCV001726098RCV001094011

NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) SNV
Germline
Chr11:103179193 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Intellectual disability
Criteria Provided
Conflicting Classifications
CA6253944 rs_201003494

4 SubmittersRCV000302504RCV000405505RCV001251984

NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=) SNV
Germline
Chr11:103184976 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Condition: not provided
DYNC2H1-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA6254002 rs_199675558

5 SubmittersRCV000263018RCV000299438RCV001401818RCV003391063RCV003930277RCV004816541

NM_001377.3(DYNC2H1):c.10021A>C (p.Arg3341=) SNV
Germline
Chr11:103245353 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA10637346 rs_886047573

2 SubmittersRCV000327276RCV000384151RCV003748220

NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=) SNV
Germline
Chr11:103253394 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA10637350 rs_886047574

2 SubmittersRCV000336349RCV000407390

NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=) SNV
Germline
Chr11:103311962 Conflicting classifications of pathogenicity Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6255319 rs_777253444

2 SubmittersRCV000305217RCV000392709RCV003765785

NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) SNV
Germline
Chr11:103253342 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Intellectual disability
Jeune thoracic dystrophy
not specified
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6254888 rs_759549373

6 SubmittersRCV000408613RCV001252223RCV001865253RCV003317202RCV004742408

NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) SNV
Germline
Chr11:103255530 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6254944 rs_771487311

7 SubmittersRCV000515875RCV000408623RCV000516064RCV001805030

NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) SNV
Germline
Chr11:103165911 Likely pathogenic Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16042810 rs_1043384862

5 SubmittersRCV000413597RCV000502405RCV003766152

NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) SNV
Germline
Chr11:103436015 Conflicting classifications of pathogenicity Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
not specified
Criteria Provided
Conflicting Classifications
CA6255552 rs_755441612

5 SubmittersRCV000428176RCV000704632RCV001291163RCV002307497

NM_001377.3(DYNC2H1):c.12622C>T (p.Leu4208=) SNV
Germline
Chr11:103456330 Conflicting classifications of pathogenicity not specified
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6255624 rs_752163457

3 SubmittersRCV000424319RCV001108173RCV003766316

NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) SNV
Germline
Chr11:103257731 Pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Single Submitter
CA16612953 rs_562139820

3 SubmittersRCV000459333RCV001291287

NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) SNV
Germline
Chr11:103177664 Pathogenic/Likely pathogenic Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA6253872 rs_552436294

6 SubmittersRCV000483501RCV000515935RCV001291051RCV003401520

NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) SNV
Germline
Chr11:103253440 Pathogenic Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16619091 rs_943680446

7 SubmittersRCV000486867RCV001253670RCV002526956

NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) SNV
Germline
Chr11:103198008 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6254332 rs_755505546

3 SubmittersRCV002269279RCV003766765

NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) SNV
Germline
Chr11:103129005 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA476608713 rs_1178331074

5 SubmittersRCV000500337RCV000515832RCV001764498

NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) SNV
Germline
Chr11:103173196 Conflicting classifications of pathogenicity not specified
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6253763 rs_200208000

5 SubmittersRCV000508350RCV000862552RCV001107079RCV004591452

NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) SNV
Germline
Chr11:103253384 Pathogenic/Likely pathogenic not specified
Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
CA6254891 rs_368631447

8 SubmittersRCV000508370RCV000984619RCV001269722RCV001291158

NM_018051.5(DYNC2I1):c.2284C>T (p.Arg762Ter) SNV
Germline
Chr7:158926213 Pathogenic Asphyxiating thoracic dystrophy 3
Short-rib thoracic dysplasia 8 with or without polydactyly
Criteria Provided
Single Submitter
CA370181387 rs_1456300819

3 SubmittersRCV001291413RCV004701585

NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) SNV
Germline
Chr7:158926234 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
See cases
DYNC2I1-related disorder
Short-rib thoracic dysplasia 8 with or without polydactyly
Criteria Provided
Conflicting Classifications
CA4594938 rs_193204571

5 SubmittersRCV000516105RCV001291411RCV003156100RCV003915443RCV002230998

NM_052844.4(DYNC2I2):c.1397A>C (p.Gln466Pro) SNV
Germline
Chr9:128633958 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA375108068 rs_1554770620

2 SubmittersRCV001291410

NM_052844.4(DYNC2I2):c.1060A>G (p.Thr354Ala) SNV
Germline
Chr9:128634843 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA375113381 rs_1554771066

2 SubmittersRCV001291409

NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro) SNV
Germline
Chr11:103109767 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382241467 rs_555339053

2 SubmittersRCV001291283

NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=) SNV
Germline
Chr11:103109769 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA227396086 rs_896105030

2 SubmittersRCV001291041

NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter) SNV
Germline
Chr11:103113668 Pathogenic Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA6252449 rs_755305630

4 SubmittersRCV001291292RCV002275047RCV003586192

NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) SNV
Germline
Chr11:103116573 Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Single Submitter
CA6252556 rs_771511132

3 SubmittersRCV000516133RCV001291052

NM_001377.3(DYNC2H1):c.767-2A>G SNV
Germline
Chr11:103117629 Pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Single Submitter
CA6252602 rs_762873763

3 SubmittersRCV001291050RCV003586191

NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter) SNV
Germline
Chr11:103120525 Pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Single Submitter
CA6252675 rs_764769351

3 SubmittersRCV001291040RCV001851415

NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) SNV
Germline
Chr11:103120982 Pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
CA6252736 rs_371011047

5 SubmittersRCV000516025RCV001353119

NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) SNV
Germline
Chr11:103135630 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
No Assertion Criteria Provided
CA382260043 rs_1555043520

2 SubmittersRCV000516111RCV001291043

NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) SNV
Germline
Chr11:103152248 Pathogenic/Likely pathogenic Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA6253248 rs_373335226

4 SubmittersRCV000521701RCV001291393RCV003748238

NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His) SNV
Germline
Chr11:103156490 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382274768 rs_1555050986

2 SubmittersRCV001291160

NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) SNV
Germline
Chr11:103158916 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA6253522 rs_745870321

7 SubmittersRCV000755107RCV001584228RCV001857883

NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) SNV
Germline
Chr11:103165985 Pathogenic Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227396060 rs_901629870

4 SubmittersRCV001092187RCV001291402RCV003766901

NM_001377.3(DYNC2H1):c.4820T>A (p.Ile1607Asn) SNV
Germline
Chr11:103168812 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382240297 rs_1555054771

2 SubmittersRCV001291291

NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys) SNV
Germline
Chr11:103168956 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382240734 rs_1461272672

2 SubmittersRCV001291401

NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn) SNV
Germline
Chr11:103177557 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6253859 rs_756556129

4 SubmittersRCV001291408RCV004591457RCV004701584

NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) SNV
Germline
Chr11:103177797 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
not specified
Criteria Provided
Conflicting Classifications
CA382246660 rs_1555057503

4 SubmittersRCV001291045RCV003748239RCV004526694

NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) SNV
Germline
Chr11:103184898 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6253989 rs_775426647

4 SubmittersRCV001291047RCV001857882

NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr) SNV
Germline
Chr11:103184963 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA6253998 rs_780855765

2 SubmittersRCV001291286

NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu) SNV
Germline
Chr11:103184980 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382248983 rs_1555060411

2 SubmittersRCV001291406

NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe) SNV
Germline
Chr11:103184992 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382249012 rs_1243999036

2 SubmittersRCV001291171

NM_001377.3(DYNC2H1):c.6634-2A>G SNV
Germline
Chr11:103186240 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382249799 rs_1555060940

2 SubmittersRCV001291399

NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg) SNV
Germline
Chr11:103186491 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382250812 rs_1555061228

2 SubmittersRCV001291403

NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) SNV
Germline
Chr11:103187356 Pathogenic/Likely pathogenic Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA6254108 rs_747348765

7 SubmittersRCV000521573RCV001291177RCV000754936RCV003419889

NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile) SNV
Germline
Chr11:103187558 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382252169 rs_1322884865

2 SubmittersRCV001291178

NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr) SNV
Germline
Chr11:103188624 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382252961 rs_1555062340

2 SubmittersRCV001291165

NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) SNV
Germline
Chr11:103189788 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA382253944 rs_1555062849

4 SubmittersRCV000634179RCV001291285RCV002281100

NM_001377.3(DYNC2H1):c.7438-2A>G SNV
Germline
Chr11:103191515 Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Single Submitter
CA382254014 rs_1555063811

3 SubmittersRCV001291279RCV003748237

NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) SNV
Germline
Chr11:103191520 Pathogenic Jeune thoracic dystrophy
not specified
Asphyxiating thoracic dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
CA6254239 rs_537704873

5 SubmittersRCV000515965RCV001000998RCV003989547

NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His) SNV
Germline
Chr11:103191604 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382254208 rs_1386343205

2 SubmittersRCV001291284

NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser) SNV
Germline
Chr11:103192133 Likely pathogenic Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Criteria Provided
Single Submitter
CA6254282 rs_762588952

3 SubmittersRCV001291179RCV003403207

NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) SNV
Germline
Chr11:103192150 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA382254374 rs_1350329646

9 SubmittersRCV000515993RCV001199059RCV001543510

NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser) SNV
Germline
Chr11:103192199 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382254514 rs_1555064376

2 SubmittersRCV001291398

NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) SNV
Germline
Chr11:103199354 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
not specified
Criteria Provided
Conflicting Classifications
CA6254362 rs_371214841

4 SubmittersRCV001291277RCV003748236RCV003230526

NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) SNV
Germline
Chr11:103199355 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6254363 rs_200614421

5 SubmittersRCV000515843RCV000860526RCV000991172

NM_001377.3(DYNC2H1):c.7967G>T (p.Arg2656Leu) SNV
Germline
Chr11:103199355 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA6254364 rs_200614421

2 SubmittersRCV001291166

NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp) SNV
Germline
Chr11:103199372 Likely pathogenic Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Single Submitter
CA227412235 rs_964711006

3 SubmittersRCV001291157RCV003324758

NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) SNV
Germline
Chr11:103199400 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
CA382256730 rs_1196317554

5 SubmittersRCV000515910RCV001541195RCV004701583

NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter) SNV
Germline
Chr11:103199438 Pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Single Submitter
CA6254376 rs_747857715

3 SubmittersRCV001291289RCV003748243

NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu) SNV
Germline
Chr11:103199458 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382256948 rs_1214801816

2 SubmittersRCV001291288

NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter) SNV
Germline
Chr11:103200102 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA6254391 rs_371940321

2 SubmittersRCV001291174

NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) SNV
Germline
Chr11:103215755 Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Single Submitter
CA382261264 rs_1555071484

3 SubmittersRCV001291172RCV001851416

NM_001377.3(DYNC2H1):c.9353+1G>A SNV
Germline
Chr11:103223087 Pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Criteria Provided
Single Submitter
CA6254660 rs_776407305

4 SubmittersRCV000516136RCV001291164RCV004742473

NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) SNV
Germline
Chr11:103234158 Pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Single Submitter
CA6254715 rs_373924400

3 SubmittersRCV001291397RCV002527447

NM_001377.3(DYNC2H1):c.9710-2A>G SNV
Germline
Chr11:103236428 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382242235 rs_1555077194

2 SubmittersRCV001291395

NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn) SNV
Germline
Chr11:103243717 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA6254811 rs_780600124

5 SubmittersRCV001291278RCV001269528RCV001857880

NM_001377.3(DYNC2H1):c.10042+2T>G SNV
Germline
Chr11:103245376 Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly
Asphyxiating thoracic dystrophy 3
Autosomal recessive polycystic kidney disease
Condition: not provided
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA382246199 rs_1261505725

5 SubmittersRCV000516017RCV001291173RCV001328199RCV003159657RCV001857881

NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) SNV
Germline
Chr11:103257719 Pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6255008 rs_181011657

7 SubmittersRCV000532727RCV000578494RCV002473030

NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter) SNV
Germline
Chr11:103257749 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA382251233 rs_1555082470

2 SubmittersRCV001291168

NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter) SNV
Germline
Chr11:103321132 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
CA227433804 rs_369658526

2 SubmittersRCV001291405

NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser) SNV
Germline
Chr11:103479135 Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Single Submitter
CA382290910 rs_1555143920

3 SubmittersRCV000515860RCV004820855

NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) SNV
Germline
Chr11:103479158 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6255695 rs_368654019

5 SubmittersRCV000515988RCV001291280RCV001597152

NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) SNV
Germline
Chr11:103253342 Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Single Submitter
CA382248031 rs_759549373

2 SubmittersRCV000578487RCV003586194

NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) SNV
Germline
Chr11:103321208 Conflicting classifications of pathogenicity Condition: not provided
Asphyxiating thoracic dystrophy 3
Intellectual disability
Jeune thoracic dystrophy
Inborn genetic diseases
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
CA6255393 rs_189100009

6 SubmittersRCV000595074RCV000764931RCV001251977RCV002065172RCV003160051RCV004742532

NM_001377.3(DYNC2H1):c.1662-3T>C SNV
Germline
Chr11:103125097 Conflicting classifications of pathogenicity Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA6252856 rs_548328948

3 SubmittersRCV000595541RCV001080633RCV001106877

NM_001377.3(DYNC2H1):c.12039+15A>G SNV
Germline
Chr11:103324005 Conflicting classifications of pathogenicity not specified
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
CA6255442 rs_184350782

3 SubmittersRCV000604425RCV001102880RCV002062975

NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=) SNV
Germline
Chr11:103158961 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6253528 rs_367841359

4 SubmittersRCV000860640RCV001104018RCV001697891

NM_001377.3(DYNC2H1):c.2574+1G>A SNV
Germline
Chr11:103135949 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1565329461

3 SubmittersRCV000754948RCV002227206RCV003319397

NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) SNV
Germline
Chr11:103287559 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_764926983

5 SubmittersRCV000754951RCV003221356RCV004723058

NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys) SNV
Germline
Chr11:103186442 Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
rs_1384888093

1 SubmittersRCV000755104

NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser) SNV
Germline
Chr11:103204849 Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
rs_1565394086

1 SubmittersRCV000755106

NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter) SNV
Germline
Chr11:103257740 Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
rs_1565438488

1 SubmittersRCV000755108

NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg) SNV
Unknown
Chr11:103243693 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_371932985

1 SubmittersRCV000853583

NM_001377.3(DYNC2H1):c.12831G>T (p.Arg4277Ser) SNV
Unknown
Chr11:103479160 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_372878677

1 SubmittersRCV000853584

NM_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=) SNV
Germline
Chr11:103173255 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_201305322

2 SubmittersRCV001107080RCV002062254

NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys) SNV
Germline
Chr11:103253290 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_149452352

4 SubmittersRCV001804002RCV002064430RCV003955567RCV004726707

NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=) SNV
Germline
Chr11:103188565 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
rs_371948128

2 SubmittersRCV000866049RCV001107820

NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His) SNV
Germline
Chr11:103257696 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_188113889

4 SubmittersRCV000867025RCV001102777RCV003319428

NM_001377.3(DYNC2H1):c.6894-5C>T SNV
Germline
Chr11:103187335 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_552793888

2 SubmittersRCV003145215RCV002536769

NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) SNV
Germline
Chr11:103191521 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
rs_781326398

4 SubmittersRCV000988630RCV003411929

NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) SNV
Germline
Chr11:103200147 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
rs_770800903

3 SubmittersRCV000995760RCV004726767RCV003396579

NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val) SNV
Germline
Chr11:103304650 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Condition: not provided
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
rs_760635983

3 SubmittersRCV000995761RCV001565020RCV003392723

NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu) SNV
Germline
Chr11:103184976 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_199675558

3 SubmittersRCV001803201RCV002068763RCV003160159

NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=) SNV
Germline
Chr11:103121026 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_190106816

2 SubmittersRCV001105760RCV002069741

NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=) SNV
Germline
Chr11:103135813 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_143172984

2 SubmittersRCV001107548RCV003748307

NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp) SNV
Germline
Chr11:103148606 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_772439717

5 SubmittersRCV001103934RCV001401390RCV003928704RCV004032100

NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=) SNV
Germline
Chr11:103168915 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_376188702

2 SubmittersRCV001104321RCV001444315

NM_001377.3(DYNC2H1):c.6372T>C (p.Ser2124=) SNV
Germline
Chr11:103181781 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_1386325793

2 SubmittersRCV001104105RCV003748304

NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser) SNV
Germline
Chr11:103186377 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_199897162

4 SubmittersRCV001104416RCV001358422RCV001248024RCV002558043

NM_001377.3(DYNC2H1):c.7085A>G (p.Asn2362Ser) SNV
Germline
Chr11:103187531 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1862122773

2 SubmittersRCV001107158RCV001311270

NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=) SNV
Germline
Chr11:103220667 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
rs_765905797

3 SubmittersRCV001107912RCV003748308RCV003906203

NM_001377.3(DYNC2H1):c.9384G>A (p.Arg3128=) SNV
Germline
Chr11:103231290 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_930832327

2 SubmittersRCV001102680RCV003586263

NM_001377.3(DYNC2H1):c.11139A>G (p.Leu3713=) SNV
Germline
Chr11:103303136 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_778092263

2 SubmittersRCV001105850RCV003748305

NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser) SNV
Germline
Chr11:103303182 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
Jeune thoracic dystrophy
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_199766341

6 SubmittersRCV001105851RCV003243479RCV002558060RCV004768861RCV004813768

NM_001377.3(DYNC2H1):c.11253C>T (p.His3751=) SNV
Germline
Chr11:103303250 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_760751244

2 SubmittersRCV001105852RCV002069744

NM_001377.3(DYNC2H1):c.11742A>G (p.Gln3914=) SNV
Germline
Chr11:103321045 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_769560873

2 SubmittersRCV001102878RCV003748303

NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=) SNV
Germline
Chr11:103323921 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder
Criteria Provided
Conflicting Classifications
rs_370818346

3 SubmittersRCV001102879RCV001472292RCV003898092

NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=) SNV
Germline
Chr11:103468633 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_371640317

2 SubmittersRCV001108175RCV002069767

NM_001377.3(DYNC2H1):c.2345+9T>C SNV
Germline
Chr11:103135643 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_772122634

2 SubmittersRCV001107547RCV003586265

NM_001377.3(DYNC2H1):c.2574+9C>T SNV
Germline
Chr11:103135957 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_777840832

2 SubmittersRCV001103931RCV003586264

NM_001377.3(DYNC2H1):c.5335-11T>G SNV
Germline
Chr11:103173071 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_181963253

3 SubmittersRCV001107078RCV002067789

NM_001377.3(DYNC2H1):c.7140+8A>G SNV
Germline
Chr11:103187594 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_768364364

2 SubmittersRCV001107159RCV003748306

NM_001377.3(DYNC2H1):c.9568-13C>G SNV
Germline
Chr11:103235659 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_189730787

3 SubmittersRCV001104602RCV002555026RCV004693617

NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn) SNV
Germline
Chr11:103113658 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_200485999

4 SubmittersRCV001281676RCV001586106RCV002069500RCV002537923

NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His) SNV
Germline
Chr11:103115228 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_199960819

4 SubmittersRCV001281675RCV001571880RCV002069499RCV002537922

NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser) SNV
Germline
Chr11:103114212 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_201510850

2 SubmittersRCV001286217RCV002542977

NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His) SNV
Germline
Chr11:103121480 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
not specified
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications
rs_201484896

3 SubmittersRCV001285028RCV001819977RCV002541768

NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) SNV
Germline
Chr11:103220687 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
rs_755871858

5 SubmittersRCV001285977RCV002462900RCV002537942RCV003246832RCV004699269

NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter) SNV
Germline
Chr11:103115210 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
rs_1223863177

1 SubmittersRCV001293394

NM_001377.3(DYNC2H1):c.3459-1G>A SNV
Germline
Chr11:103154694 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
rs_1860730801

1 SubmittersRCV001293391

NM_001377.3(DYNC2H1):c.9817C>T (p.Gln3273Ter) SNV
Germline
Chr11:103236537 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
rs_1322871899

1 SubmittersRCV001293390

NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter) SNV
Germline
Chr11:103170910 Pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_772321133

3 SubmittersRCV001332761RCV003748338RCV003322881

NM_194313.4(KIF24):c.1565A>G (p.Asn522Ser) SNV
Somatic
Chr9:34259656 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
rs_535585536

1 SubmittersRCV001581093

NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter) SNV
Germline
Chr11:103113585 Pathogenic/Likely pathogenic Condition: not provided
Asphyxiating thoracic dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
rs_1249901214

3 SubmittersRCV001596909RCV001780415

NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys) SNV
Germline
Chr11:103154479 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
rs_1860716899

1 SubmittersRCV001844335

NM_001377.3(DYNC2H1):c.9313C>T (p.Arg3105Ter) SNV
Germline
Chr11:103223046 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_777932973

1 SubmittersRCV001728050

NM_001377.3(DYNC2H1):c.4093C>T (p.Gln1365Ter) SNV
Germline
Chr11:103156736 Pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_2134896978

1 SubmittersRCV001783168

NM_001377.3(DYNC2H1):c.12238C>T (p.Gln4080Ter) SNV
Germline
Chr11:103399744 Pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_1942559934

1 SubmittersRCV001806293

NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) SNV
Germline
Chr11:103114235 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_755464335

2 SubmittersRCV001808203RCV001869583

NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys) SNV
Germline
Chr11:103235742 Pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided
rs_923729821

1 SubmittersRCV001849649

NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) SNV
Germline
Chr11:103203775 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
rs_1437320571

3 SubmittersRCV001982981RCV002307817

NM_001377.3(DYNC2H1):c.10606-14A>G SNV
Germline
Chr11:103259874 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_989023092

2 SubmittersRCV002227368RCV002243530

NM_001377.3(DYNC2H1):c.7972G>C (p.Gly2658Arg) SNV
Germline
Chr11:103199360 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_1268066804

1 SubmittersRCV002240133

NM_001377.3(DYNC2H1):c.11320G>A (p.Gly3774Arg) SNV
Germline
Chr11:103304658 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_2135399555

1 SubmittersRCV002238702

NM_001377.3(DYNC2H1):c.2T>C (p.Met1Thr) SNV
Germline
Chr11:103109576 Pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_2134667452

1 SubmittersRCV002238708

NM_001377.3(DYNC2H1):c.4429A>T (p.Lys1477Ter) SNV
Germline
Chr11:103160982 Pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_754944912

1 SubmittersRCV002240140

NM_001377.3(DYNC2H1):c.5559-1G>C SNV
Germline
Chr11:103174054 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_2134979684

1 SubmittersRCV002249034

NM_001377.3(DYNC2H1):c.12457-1G>C SNV
Germline
Chr11:103455185 Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_2135805319

2 SubmittersRCV002249036RCV003774707

NM_001377.3(DYNC2H1):c.3446G>A (p.Trp1149Ter) SNV
Germline
Chr11:103154594 Pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_2134885529

1 SubmittersRCV002269813

NM_001377.3(DYNC2H1):c.6023T>C (p.Met2008Thr) SNV
Germline
Chr11:103177704 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter
rs_2134994767

1 SubmittersRCV002273030

NM_001377.3(DYNC2H1):c.6464G>A (p.Trp2155Ter) SNV
Germline
Chr11:103181873 Pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter

1 SubmittersRCV002286445

NM_001377.3(DYNC2H1):c.9440+4A>G SNV
Germline
Chr11:103231350 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter

1 SubmittersRCV003230298

NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter) SNV
Germline
Chr11:103455191 Pathogenic Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002467157RCV003485786RCV003775495

NM_001376.5(DYNC1H1):c.6208G>A (p.Val2070Ile) SNV
Germline
Chr14:102010073 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002611298RCV003992709

NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter) SNV
Germline
Chr11:103158768 Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003144847RCV003778834

NM_001377.3(DYNC2H1):c.747G>A (p.Leu249=) SNV
Germline
Chr11:103116695 Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003146902RCV003586385

NM_001377.3(DYNC2H1):c.7547C>G (p.Ser2516Ter) SNV
Unknown
Chr11:103192103 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter

1 SubmittersRCV003314336

NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His) SNV
Germline
Chr11:103158917 Conflicting classifications of pathogenicity not specified
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications

3 SubmittersRCV003317788RCV003586408RCV004796799

NM_001377.3(DYNC2H1):c.7276C>T (p.Arg2426Cys) SNV
Germline
Chr11:103188632 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter

1 SubmittersRCV003319575

NM_001377.3(DYNC2H1):c.6477G>A (p.Gln2159=) SNV
Germline
Chr11:103181886 Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided

1 SubmittersRCV003328075

NM_001377.3(DYNC2H1):c.6439G>T (p.Asp2147Tyr) SNV
Germline
Chr11:103181848 Likely pathogenic Asphyxiating thoracic dystrophy 3 No Assertion Criteria Provided

1 SubmittersRCV003328091

NM_001377.3(DYNC2H1):c.3302+1G>T SNV
Germline
Chr11:103153509 Likely pathogenic Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003587687RCV005001400

NM_001377.3(DYNC2H1):c.6035C>T (p.Ala2012Val) SNV
Germline
Chr11:103177716 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter

1 SubmittersRCV003988753

NM_001377.3(DYNC2H1):c.962C>T (p.Pro321Leu) SNV
Germline
Chr11:103117826 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter

1 SubmittersRCV004018024

NM_001377.3(DYNC2H1):c.12481C>T (p.Gln4161Ter) SNV
Germline
Chr11:103455210 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter

1 SubmittersRCV004720711

NM_001377.3(DYNC2H1):c.11022+2T>C SNV
Germline
Chr11:103286388 Likely pathogenic Asphyxiating thoracic dystrophy 3 Criteria Provided
Single Submitter

1 SubmittersRCV004783368