Total 763 pathogenic variants reported for Ellis-van Creveld syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) SNV
Germline
Chr4:5640789 Pathogenic Ellis-van Creveld syndrome
Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA116164 rs_137852924

12 SubmittersRCV000003550RCV000516144RCV000578498RCV000763528

NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) SNV
Germline
Chr4:5628590 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA116167 rs_137852925

5 SubmittersRCV000003551RCV001228211RCV004719615

NM_147127.5(EVC2):c.848T>G (p.Ile283Arg) SNV
Germline
Chr4:5681282 Pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA116170 rs_137852926

1 SubmittersRCV000003552

NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) SNV
Germline
Chr4:5576247 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA116172 rs_137852927

8 SubmittersRCV000003553RCV000799858RCV001265673RCV005054132

NM_153717.3(EVC):c.1886+5G>T SNV
Germline
Chr4:5793722 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Criteria Provided
Multiple Submitters
No Conflicts
CA212828 rs_794726665

9 SubmittersRCV000005666RCV001851677RCV000438781RCV000516013

NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) SNV
Germline
Chr4:5808274 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA117414 rs_121908424

4 SubmittersRCV000005667RCV001045109

NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) SNV
Germline
Chr4:5748226 Pathogenic Ellis-van Creveld syndrome
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA117416 rs_121908425

13 SubmittersRCV000005668RCV000255270RCV000516113RCV000807465

NM_153717.3(EVC):c.919T>C (p.Ser307Pro) SNV
Germline
Chr4:5745321 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA117420 rs_121908426

6 SubmittersRCV000005672RCV001383029RCV005259981

NM_147127.5(EVC2):c.707-2A>G SNV
Germline
Chr4:5685481 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356147107 rs_1302074641

2 SubmittersRCV000023641RCV005222701

NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) SNV
Germline
Chr4:5618531 Pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA213036 rs_146538906

3 SubmittersRCV000023642RCV001852025

NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) SNV
Germline
Chr4:5562978 Pathogenic Curry-Hall syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356146508 rs_1577093161

2 SubmittersRCV000088667RCV003764801

NM_147127.5(EVC2):c.18C>T (p.Ser6=) SNV
Germline
Chr4:5708496 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA239034 rs_556910528

5 SubmittersRCV000173575RCV001080231

NM_153717.3(EVC):c.8G>C (p.Arg3Pro) SNV
Germline
Chr4:5711388 Conflicting classifications of pathogenicity not specified
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA239040 rs_756852655

11 SubmittersRCV000173582RCV000724435RCV001153146RCV001085964RCV003975261RCV002516592

NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) SNV
Germline
Chr4:5640620 Conflicting classifications of pathogenicity not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
EVC2-related disorder
Criteria Provided
Conflicting Classifications
CA200770 rs_141287105

10 SubmittersRCV000173922RCV000680149RCV000755525RCV001572957RCV003965251

NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) SNV
Germline
Chr4:5793657 Conflicting classifications of pathogenicity not specified
Ellis-van Creveld syndrome
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA240165 rs_41269557

11 SubmittersRCV000174617RCV000268280RCV000724535RCV001080715RCV003907562RCV002516635

NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) SNV
Germline
Chr4:5622775 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA201188 rs_751356206

6 SubmittersRCV000174810RCV000763526RCV000724018

NM_147127.5(EVC2):c.2244C>T (p.Thr748=) SNV
Germline
Chr4:5622794 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder
Criteria Provided
Conflicting Classifications
CA240396 rs_146588335

4 SubmittersRCV000724347RCV001082948RCV003947477

NM_147127.5(EVC2):c.2301G>A (p.Gly767=) SNV
Germline
Chr4:5622737 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA240398 rs_374178504

2 SubmittersRCV000174812RCV002054060

NM_153717.3(EVC):c.1928G>A (p.Arg643His) SNV
Germline
Chr4:5797063 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA240400 rs_144906677

3 SubmittersRCV000174813RCV002517680RCV004020071

NM_153717.3(EVC):c.2322G>C (p.Ala774=) SNV
Germline
Chr4:5801967 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA240795 rs_150373930

8 SubmittersRCV000175107RCV001081648RCV001153680RCV004751333

NM_153717.3(EVC):c.2305-6C>T SNV
Germline
Chr4:5801944 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified
Criteria Provided
Conflicting Classifications
CA240797 rs_781705295

3 SubmittersRCV000175108RCV001079265RCV003398888

NM_153717.3(EVC):c.569G>T (p.Arg190Leu) SNV
Germline
Chr4:5731609 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
Criteria Provided
Conflicting Classifications
CA245489 rs_113002470

7 SubmittersRCV000178396RCV001563967RCV001157455RCV002517731RCV002515263RCV004782288

NM_153717.3(EVC):c.469C>G (p.Pro157Ala) SNV
Germline
Chr4:5731509 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA202846 rs_146729456

13 SubmittersRCV000341901RCV000878090RCV001354236RCV000178397RCV002517732

NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) SNV
Germline
Chr4:5576371 Pathogenic Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA10575839 rs_886037764

3 SubmittersRCV000257943RCV001781609

NM_147127.5(EVC2):c.2029C>A (p.Arg677=) SNV
Germline
Chr4:5625766 Conflicting classifications of pathogenicity Condition: not provided
not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder
Criteria Provided
Conflicting Classifications
CA2834861 rs_73198165

8 SubmittersRCV000224436RCV000345805RCV001082655RCV001154618RCV003937874

NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) SNV
Germline
Chr4:5562938 Conflicting classifications of pathogenicity not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2834174 rs_201651890

4 SubmittersRCV000251614RCV000267298RCV000917722

NM_153717.3(EVC):c.2298C>T (p.Asp766=) SNV
Germline
Chr4:5798786 Conflicting classifications of pathogenicity not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2836433 rs_140546984

4 SubmittersRCV000250676RCV001153679RCV000886490RCV001722365

NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) SNV
Germline
Chr4:5622562 Pathogenic Condition: not provided
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2834715 rs_548681312

4 SubmittersRCV000393643RCV000672927RCV001040343

NM_147127.5(EVC2):c.1823G>A (p.Arg608His) SNV
Germline
Chr4:5628622 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Condition: not provided
Type IV short rib polydactyly syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder
Criteria Provided
Conflicting Classifications
CA2834927 rs_145693546

10 SubmittersRCV000340148RCV000386025RCV000515816RCV001085529RCV004751415

NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe) SNV
Germline
Chr4:5615493 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2834591 rs_762404021

3 SubmittersRCV000263029RCV005213247

NM_153717.3(EVC):c.550G>A (p.Asp184Asn) SNV
Germline
Chr4:5731590 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
EVC-related disorder
not specified
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2835734 rs_41269549

14 SubmittersRCV000334802RCV003930073RCV003479090RCV000725205RCV001083825

NM_153717.3(EVC):c.1653G>A (p.Pro551=) SNV
Germline
Chr4:5783641 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2836213 rs_151293705

3 SubmittersRCV000725216RCV001085528

NM_153717.3(EVC):c.1892C>T (p.Thr631Met) SNV
Germline
Chr4:5797027 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2836311 rs_139481521

4 SubmittersRCV000343430RCV001828192RCV001327716

NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) SNV
Germline
Chr4:5756339 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2836151 rs_141896077

3 SubmittersRCV000260082RCV001828193RCV001303664

NM_153717.3(EVC):c.2449+10C>A SNV
Germline
Chr4:5802104 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2836504 rs_758387379

2 SubmittersRCV000369705RCV001086991

NM_147127.5(EVC2):c.1471-6C>T SNV
Germline
Chr4:5632038 Conflicting classifications of pathogenicity not specified
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2835035 rs_115466792

5 SubmittersRCV000337976RCV000950917RCV004721325

NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) SNV
Germline
Chr4:5752839 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2836010 rs_145645536

3 SubmittersRCV000345171RCV002519135RCV005549934

NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) SNV
Germline
Chr4:5801995 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified
Criteria Provided
Conflicting Classifications
CA2836474 rs_149537641

5 SubmittersRCV000304958RCV000327256RCV001859601RCV003488498

NM_147127.5(EVC2):c.2517A>G (p.Ser839=) SNV
Germline
Chr4:5618667 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2834677 rs_756424912

2 SubmittersRCV000286666RCV001088663

NM_153717.3(EVC):c.1349C>T (p.Ala450Val) SNV
Germline
Chr4:5753818 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2836076 rs_749008952

3 SubmittersRCV000306837RCV002518980

NM_147127.5(EVC2):c.126C>T (p.Leu42=) SNV
Germline
Chr4:5708388 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2835554 rs_781009014

2 SubmittersRCV000295874RCV001085651

NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) SNV
Germline
Chr4:5689333 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2835410 rs_145758016

5 SubmittersRCV000384115RCV002480041RCV004720251

NM_147127.5(EVC2):c.2340C>T (p.His780=) SNV
Germline
Chr4:5622698 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2834750 rs_150691722

3 SubmittersRCV000364333RCV001085051RCV001155336

NM_153717.3(EVC):c.89C>T (p.Pro30Leu) SNV
Germline
Chr4:5711469 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA10606907 rs_886044558

9 SubmittersRCV000398177RCV000536411RCV001153149RCV003479096RCV003977813

NM_147127.5(EVC2):c.3659+2T>C SNV
Germline
Chr4:5565256 Pathogenic/Likely pathogenic Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA2834238 rs_200300612

7 SubmittersRCV000521259RCV000665483RCV000695869RCV003922532

NM_147127.5(EVC2):c.3272+7C>T SNV
Germline
Chr4:5576233 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2834396 rs_201048030

3 SubmittersRCV000388698RCV000878616RCV001812887

NM_147127.5(EVC2):c.2829+9A>C SNV
Germline
Chr4:5615413 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2834570 rs_370232376

2 SubmittersRCV000271152RCV000946261

NM_147127.5(EVC2):c.1498C>A (p.Arg500=) SNV
Germline
Chr4:5632005 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2835029 rs_148248777

2 SubmittersRCV000297151RCV000980610

NM_147127.5(EVC2):c.446G>A (p.Arg149His) SNV
Germline
Chr4:5694339 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2835466 rs_202198132

4 SubmittersRCV000392759RCV001812895RCV005213265RCV004021963

NM_153717.3(EVC):c.105C>A (p.Gly35=) SNV
Germline
Chr4:5711485 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2835569 rs_745558003

4 SubmittersRCV000290874RCV000884781RCV001310825

NM_153717.3(EVC):c.612C>T (p.Cys204=) SNV
Germline
Chr4:5731652 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2835743 rs_553634958

2 SubmittersRCV000313721RCV000878681

NM_153717.3(EVC):c.934G>A (p.Asp312Asn) SNV
Germline
Chr4:5745336 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
not specified
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA2835913 rs_115275195

9 SubmittersRCV000327158RCV000507948RCV000945501RCV001796743RCV003902349

NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) SNV
Germline
Chr4:5753931 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2836107 rs_146232611

3 SubmittersRCV000276458RCV002520258RCV004021967

NM_153717.3(EVC):c.1818A>C (p.Thr606=) SNV
Germline
Chr4:5793649 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified
Criteria Provided
Conflicting Classifications
CA2836276 rs_202093497

4 SubmittersRCV000271821RCV000831517RCV001086649RCV004525921

NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) SNV
Germline
Chr4:5798766 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836431 rs_200479973

2 SubmittersRCV000386103RCV001055789

NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) SNV
Germline
Chr4:5810425 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA2836717 rs_35926225

5 SubmittersRCV000327257RCV000951965RCV001591010RCV004751489

NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) SNV
Germline
Chr4:5576338 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2834424 rs_555652075

2 SubmittersRCV000335220RCV000939676

NM_147127.5(EVC2):c.2667C>T (p.Phe889=) SNV
Germline
Chr4:5618517 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2834635 rs_201173415

2 SubmittersRCV000332340RCV000977285

NM_153717.3(EVC):c.442T>C (p.Leu148=) SNV
Germline
Chr4:5731482 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA2835702 rs_139931919

5 SubmittersRCV000289304RCV000951716RCV001653677RCV003932422

NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) SNV
Germline
Chr4:5798764 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
EVC-related disorder
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2836430 rs_201776972

7 SubmittersRCV000331568RCV000971701RCV003278784RCV003950234RCV005055917RCV004710996

NM_153717.3(EVC):c.2391C>T (p.Ile797=) SNV
Germline
Chr4:5802036 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836481 rs_202236029

2 SubmittersRCV000332985RCV001450677

NM_153717.3(EVC):c.2449+12C>G SNV
Germline
Chr4:5802106 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836505 rs_751678723

2 SubmittersRCV000285710RCV002057939

NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) SNV
Germline
Chr4:5810988 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836768 rs_749142395

2 SubmittersRCV000348991RCV005398478

NM_147127.5(EVC2):c.2706+13T>C SNV
Germline
Chr4:5618465 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2834619 rs_200000369

2 SubmittersRCV000274778RCV002061245

NM_147127.5(EVC2):c.*90C>T SNV
Germline
Chr4:5562758 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10621275 rs_115810595

2 SubmittersRCV000302500RCV001795967

NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) SNV
Germline
Chr4:5584816 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2834538 rs_145786485

3 SubmittersRCV000363469RCV002520248RCV002520247

NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) SNV
Germline
Chr4:5618540 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2834641 rs_190540235

3 SubmittersRCV000389188RCV000966668RCV004619270

NM_147127.5(EVC2):c.1886+11A>G SNV
Germline
Chr4:5628548 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2834910 rs_61218140

2 SubmittersRCV000289649RCV002057932

NM_153717.3(EVC):c.802-12C>T SNV
Germline
Chr4:5745192 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2835881 rs_61514191

3 SubmittersRCV000315095RCV002057936RCV001564892

NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) SNV
Germline
Chr4:5753838 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
Condition: not provided
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA2836082 rs_141859946

11 SubmittersRCV000356036RCV000542079RCV000609966RCV001573985RCV003902350

NM_147127.5(EVC2):c.615G>A (p.Leu205=) SNV
Germline
Chr4:5689248 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder
Criteria Provided
Conflicting Classifications
CA2835385 rs_140864640

3 SubmittersRCV000400850RCV000889252RCV003970007

NM_153717.3(EVC):c.1528G>A (p.Val510Ile) SNV
Germline
Chr4:5756327 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
EVC-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2836147 rs_143971158

9 SubmittersRCV000378158RCV000613661RCV001080199RCV001573028RCV003902351RCV003168537

NM_153717.3(EVC):c.982C>T (p.Leu328Phe) SNV
Germline
Chr4:5748190 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified
Criteria Provided
Conflicting Classifications
CA2835953 rs_199916502

5 SubmittersRCV001569130RCV000673224RCV000894732RCV005418091

NM_153717.3(EVC):c.1797G>A (p.Ala599=) SNV
Germline
Chr4:5793628 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836271 rs_199875230

2 SubmittersRCV000270802RCV000952178

NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) SNV
Germline
Chr4:5783684 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA2836229 rs_144943762

5 SubmittersRCV000400680RCV000972015RCV003993937RCV004751488

NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) SNV
Germline
Chr4:5793683 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836282 rs_777024713

2 SubmittersRCV000373289RCV002057938

NM_153717.3(EVC):c.1956C>T (p.Arg652=) SNV
Germline
Chr4:5797091 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836329 rs_535012160

2 SubmittersRCV000399954RCV001480990

NM_153717.3(EVC):c.2102C>T (p.Ala701Val) SNV
Germline
Chr4:5798590 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA2836389 rs_571809727

4 SubmittersRCV000305465RCV002520260RCV002523472RCV004800391

NM_153717.3(EVC):c.1722C>T (p.Arg574=) SNV
Germline
Chr4:5783710 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836235 rs_144637923

2 SubmittersRCV000400477RCV001455551

NM_153717.3(EVC):c.1878C>T (p.Leu626=) SNV
Germline
Chr4:5793709 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836289 rs_375743004

2 SubmittersRCV000307909RCV000909716

NM_153717.3(EVC):c.2562-3C>T SNV
Germline
Chr4:5808198 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2836612 rs_375960614

4 SubmittersRCV000311201RCV000951863RCV003992281RCV005434859

NM_153717.3(EVC):c.2961G>A (p.Lys987=) SNV
Germline
Chr4:5811019 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836776 rs_138808610

2 SubmittersRCV000295131RCV000966565

NM_153717.3(EVC):c.802-1G>C SNV
Unknown
Chr4:5745203 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA16040958 rs_150814290

1 SubmittersRCV000409380

NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) SNV
Germline
Chr4:5697612 Pathogenic/Likely pathogenic Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16042489 rs_965707319

4 SubmittersRCV000414626RCV000670598RCV001861425

NM_153717.3(EVC):c.2712C>T (p.Ser904=) SNV
Germline
Chr4:5809541 Conflicting classifications of pathogenicity not specified
Ellis-van Creveld syndrome
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2836667 rs_146829332

4 SubmittersRCV000419813RCV001157954RCV003114563RCV000945584

NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) SNV
Germline
Chr4:5665633 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2835239 rs_201083070

3 SubmittersRCV001079719RCV000756099

NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) SNV
Germline
Chr4:5584783 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2834530 rs_145425340

3 SubmittersRCV000765771RCV000489134

NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu) SNV
Germline
Chr4:5568457 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
EVC2-related disorder
Criteria Provided
Conflicting Classifications
CA2834284 rs_144511301

4 SubmittersRCV000497426RCV002524091RCV004619306RCV004751571

NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) SNV
Germline
Chr4:5689218 Pathogenic not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2835380 rs_779857359

2 SubmittersRCV000505905RCV001857266

NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) SNV
Germline
Chr4:5810377 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA91728088 rs_896581899

3 SubmittersRCV000513812RCV000674041RCV001215786

NM_147127.5(EVC2):c.3360+1G>A SNV
Germline
Chr4:5574684 Pathogenic Jeune thoracic dystrophy
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356150501 rs_1553815019

5 SubmittersRCV000516027RCV000673627RCV003766905

NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) SNV
Germline
Chr4:5576391 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Type IV short rib polydactyly syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA2834441 rs_376133710

7 SubmittersRCV003987575RCV000516007RCV001228575RCV003979919

NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) SNV
Germline
Chr4:5631795 Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly
Type IV short rib polydactyly syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2834978 rs_769864196

9 SubmittersRCV000515819RCV000516102RCV000666197RCV001245243RCV001574376

NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) SNV
Germline
Chr4:5689244 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA2835384 rs_761707323

6 SubmittersRCV000516039RCV000667862RCV001388085RCV003915444

NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) SNV
Germline
Chr4:5729369 Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA91718338 rs_748523193

5 SubmittersRCV000516149RCV000665849RCV001045278

NM_153717.3(EVC):c.1500G>A (p.Met500Ile) SNV
Germline
Chr4:5756299 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
Condition: not provided
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA2836142 rs_149898884

9 SubmittersRCV000673759RCV000878646RCV004782417RCV003159658RCV003905290

NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) SNV
Germline
Chr4:5783656 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356160943 rs_765269619

4 SubmittersRCV000516024RCV003766903

NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter) SNV
Germline
Chr4:5618532 Pathogenic/Likely pathogenic Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA91696925 rs_981099037

2 SubmittersRCV000523403RCV002525122

NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) SNV
Germline
Chr4:5798652 Pathogenic/Likely pathogenic Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356145068 rs_1553891936

3 SubmittersRCV000522119RCV000674284RCV001050511

NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) SNV
Germline
Chr3:180642072 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Ellis-van Creveld syndrome
Primary ciliary dyskinesia 14
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2715872 rs_201780665

5 SubmittersRCV000552448RCV000754965RCV001289545RCV002223222

NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) SNV
Germline
Chr4:5783672 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2836221 rs_751772225

2 SubmittersRCV001383173RCV001811028

NM_153717.3(EVC):c.617G>A (p.Ser206Asn) SNV
Germline
Chr4:5731657 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA91720320 rs_1017946059

4 SubmittersRCV000548054RCV000673804

NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) SNV
Germline
Chr4:5665607 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
Ellis-van Creveld syndrome
Condition: not provided
EVC2-related disorder
Criteria Provided
Conflicting Classifications
CA2835223 rs_150367317

6 SubmittersRCV000550439RCV000734269RCV001151786RCV001567553RCV004751586

NM_153717.3(EVC):c.2894+3A>G SNV
Germline
Chr4:5810453 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
EVC-associated disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA549409031 rs_1424976594

7 SubmittersRCV000578283RCV001049990RCV004696952RCV005621974

NM_153717.3(EVC):c.1315+8G>A SNV
Germline
Chr4:5753060 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2836054 rs_550411377

3 SubmittersRCV000593614RCV001088560RCV001273621

NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) SNV
Germline
Chr4:5691321 Conflicting classifications of pathogenicity not specified
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder
Criteria Provided
Conflicting Classifications
CA2835440 rs_143388379

5 SubmittersRCV000595037RCV000757233RCV001083331RCV003945392

NM_153717.3(EVC):c.1041G>A (p.Thr347=) SNV
Germline
Chr4:5748249 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2835967 rs_148418233

3 SubmittersRCV000596370RCV001083089RCV001271200

NM_153717.3(EVC):c.1315+7C>T SNV
Germline
Chr4:5753059 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA658796417 rs_1252318929

2 SubmittersRCV000596511RCV002062049

NM_153717.3(EVC):c.1851C>G (p.Arg617=) SNV
Germline
Chr4:5793682 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA438203943 rs_967986192

2 SubmittersRCV000594161RCV001089164

NM_147127.5(EVC2):c.129C>T (p.Gly43=) SNV
Germline
Chr4:5708385 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA438206085 rs_985034372

2 SubmittersRCV000593229RCV001361751

NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) SNV
Germline
Chr4:5797075 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA2836326 rs_35401386

5 SubmittersRCV000597585RCV001084491RCV003952980RCV003994039

NM_153717.3(EVC):c.93C>G (p.Ala31=) SNV
Germline
Chr4:5711473 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA91734939 rs_866226288

4 SubmittersRCV000594456RCV001426483RCV001834897RCV003945414

NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) SNV
Germline
Chr4:5640815 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2835127 rs_367655073

3 SubmittersRCV000594247RCV001086905

NM_153717.3(EVC):c.384G>T (p.Arg128=) SNV
Germline
Chr4:5729390 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA438204026 rs_1553865346

1 SubmittersRCV000625587

NM_153717.3(EVC):c.1770C>T (p.Asp590=) SNV
Germline
Chr4:5783758 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA2836242 rs_141755737

3 SubmittersRCV000733930RCV001088218RCV003953128

NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) SNV
Germline
Chr4:5798724 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA356145434 rs_1446547358

3 SubmittersRCV000637036RCV004547793

NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) SNV
Germline
Chr4:5562916 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2834168 rs_771435248

3 SubmittersRCV000658467RCV001080173RCV004972838

NM_147127.5(EVC2):c.2350A>G (p.Met784Val) SNV
Germline
Chr4:5622688 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2834746 rs_202191109

3 SubmittersRCV000658466RCV001082525RCV002534289

NM_153717.3(EVC):c.928C>G (p.Leu310Val) SNV
Germline
Chr4:5745330 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
Criteria Provided
Conflicting Classifications
CA2835909 rs_145300726

5 SubmittersRCV000657891RCV000665471RCV000689940RCV003317322

NM_147127.5(EVC2):c.3058-2A>G SNV
Unknown
Chr4:5576456 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA2834456 rs_760066386

1 SubmittersRCV000672616

NM_147127.5(EVC2):c.2047-2A>G SNV
Germline
Chr4:5622993 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356145635 rs_1553833239

3 SubmittersRCV000666009RCV000763527

NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) SNV
Germline
Chr4:5663228 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA356141997 rs_767072839

5 SubmittersRCV000665096RCV001213406RCV001328649RCV004719927

NM_147127.5(EVC2):c.817-2A>G SNV
Germline
Chr4:5681315 Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356145830 rs_1553849894

2 SubmittersRCV000671955RCV005027814

NM_153717.3(EVC):c.364C>T (p.Pro122Ser) SNV
Germline
Chr4:5729370 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA356142130 rs_1407007311

3 SubmittersRCV000672061RCV000998211RCV005240440

NM_153717.3(EVC):c.384+5G>C SNV
Germline
Chr4:5729395 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
EVC-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA658821193 rs_1553865348

3 SubmittersRCV000666115RCV003424269RCV003432721

NM_153717.3(EVC):c.703-1G>A SNV
Unknown
Chr4:5741715 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356147212 rs_1485152854

1 SubmittersRCV000668921

NM_153717.3(EVC):c.801+2T>G SNV
Unknown
Chr4:5741816 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356147860 rs_1553871866

1 SubmittersRCV000674181

NM_153717.3(EVC):c.939+1G>C SNV
Unknown
Chr4:5745342 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356150227 rs_1553873138

1 SubmittersRCV000669809

NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) SNV
Germline
Chr4:5622554 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2834712 rs_770918273

3 SubmittersRCV000668731RCV001042997

NM_147127.5(EVC2):c.2046+1G>T SNV
Germline
Chr4:5625748 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA2834855 rs_762947212

2 SubmittersRCV000669462RCV001048959

NM_147127.5(EVC2):c.1471-1G>C SNV
Unknown
Chr4:5632033 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356149757 rs_1553837446

1 SubmittersRCV000674937

NM_147127.5(EVC2):c.3660-2A>G SNV
Unknown
Chr4:5563117 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356147452 rs_1553811863

1 SubmittersRCV000669912

NM_147127.5(EVC2):c.3057+1G>A SNV
Unknown
Chr4:5584622 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356153620 rs_1307502841

1 SubmittersRCV000668916

NM_147127.5(EVC2):c.451-2A>G SNV
Germline
Chr4:5691335 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356150072 rs_1553851870

3 SubmittersRCV000670244RCV001045528

NM_147127.5(EVC2):c.450+2T>C SNV
Germline
Chr4:5694333 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2835462 rs_781096099

3 SubmittersRCV000670299RCV000806029

NM_147127.5(EVC2):c.2830-1G>A SNV
Unknown
Chr4:5584851 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356155239 rs_1553818428

1 SubmittersRCV000672263

NM_147127.5(EVC2):c.450+1G>A SNV
Unknown
Chr4:5694334 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356150235 rs_1447633595

1 SubmittersRCV000672674

NM_147127.5(EVC2):c.2707-1G>T SNV
Germline
Chr4:5615545 Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356142460 rs_749251178

2 SubmittersRCV000673407RCV002532148

NM_147127.5(EVC2):c.229-2A>G SNV
Germline
Chr4:5697649 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2835539 rs_769799880

3 SubmittersRCV000668452RCV001213458

NM_147127.5(EVC2):c.1711-1G>A SNV
Germline
Chr4:5628735 Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356147958 rs_1553836169

2 SubmittersRCV000670927RCV001855549

NM_153717.3(EVC):c.1777-2A>G SNV
Germline
Chr4:5793606 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA91716930 rs_909612975

5 SubmittersRCV000666935RCV001229451RCV003432723

NM_153717.3(EVC):c.1777-1G>A SNV
Germline
Chr4:5793607 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356141472 rs_1262933856

5 SubmittersRCV000670126RCV001038169

NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) SNV
Germline
Chr4:5793644 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356141623 rs_1553889992

2 SubmittersRCV000671523

NM_153717.3(EVC):c.2098-1G>A SNV
Germline
Chr4:5798585 Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA2836388 rs_773019082

2 SubmittersRCV000670543RCV002531254

NM_153717.3(EVC):c.2304+2T>C SNV
Germline
Chr4:5798794 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356145705 rs_1553892090

4 SubmittersRCV000667205RCV000734396RCV002532061

NM_153717.3(EVC):c.2449+1G>A SNV
Germline
Chr4:5802095 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA356147221 rs_1553893423

4 SubmittersRCV000666355RCV001378311

NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) SNV
Germline
Chr4:5565319 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356148103 rs_1305301849

2 SubmittersRCV000669199RCV001216770

NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) SNV
Germline
Chr4:5685417 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356146825 rs_1553850677

2 SubmittersRCV000668603RCV001214748

NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val) SNV
Germline
Chr4:5576378 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2834437 rs_750108569

3 SubmittersRCV000671919RCV005223112RCV003159150

NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) SNV
Germline
Chr4:5618564 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2834648 rs_760382778

4 SubmittersRCV000670205RCV000702796RCV001560317

NM_153717.3(EVC):c.2782+1G>T SNV
Germline
Chr4:5809612 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA91727431 rs_1007534611

6 SubmittersRCV000672556RCV001213995

NM_147127.5(EVC2):c.2046+1G>C SNV
Germline
Chr4:5625748 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356145834 rs_762947212

2 SubmittersRCV000670218RCV003767983

NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) SNV
Germline
Chr4:5625766 Pathogenic Ellis-van Creveld syndrome
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2834862 rs_73198165

4 SubmittersRCV000665358RCV001784231RCV001382204

NM_147127.5(EVC2):c.1887-1G>A SNV
Unknown
Chr4:5625909 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356146300 rs_1490912913

1 SubmittersRCV000674180

NM_153717.3(EVC):c.2T>A (p.Met1Lys) SNV
Germline
Chr4:5711382 Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356156114 rs_1553857801

3 SubmittersRCV000674216RCV001378366

NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) SNV
Germline
Chr4:5665578 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA2835213 rs_763363403

4 SubmittersRCV000665893RCV001207757RCV003420174

NM_153717.3(EVC):c.134G>A (p.Trp45Ter) SNV
Germline
Chr4:5711514 Likely pathogenic Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA356156636 rs_1553857995

2 SubmittersRCV000674011RCV003144475

NM_147127.5(EVC2):c.816+2T>C SNV
Germline
Chr4:5685368 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356146666 rs_1294715119

2 SubmittersRCV000667487RCV001861758

NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) SNV
Germline
Chr4:5685441 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356146902 rs_1236566474

3 SubmittersRCV000667298RCV001236351

NM_147127.5(EVC2):c.229-1G>T SNV
Germline
Chr4:5697648 Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356152397 rs_1214848359

4 SubmittersRCV000671776RCV001222326

NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) SNV
Germline
Chr4:5708381 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356154675 rs_1477102573

3 SubmittersRCV000666395RCV001390829

NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) SNV
Germline
Chr4:5783666 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2836220 rs_764397417

5 SubmittersRCV000668673RCV001047674

NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) SNV
Germline
Chr4:5793699 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA356141848 rs_1373632260

4 SubmittersRCV000668661RCV001333014RCV001855505

NM_153717.3(EVC):c.2097+1G>T SNV
Germline
Chr4:5797233 Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356144103 rs_1553891368

2 SubmittersRCV000672868RCV002531324

NM_153717.3(EVC):c.301-1G>A SNV
Germline
Chr4:5729306 Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356141814 rs_1363547577

3 SubmittersRCV000672542RCV003767997

NM_153717.3(EVC):c.702+1G>A SNV
Unknown
Chr4:5733436 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356144291 rs_1553867138

1 SubmittersRCV000669260

NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) SNV
Germline
Chr4:5748268 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2835971 rs_779915989

3 SubmittersRCV000667721RCV001855487

NM_153717.3(EVC):c.1564-2A>G SNV
Unknown
Chr4:5783550 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356160500 rs_1553886849

1 SubmittersRCV000673971

NM_153717.3(EVC):c.2561+1G>A SNV
Germline
Chr4:5804842 Pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356149957 rs_1553894457

2 SubmittersRCV000665984

NM_153717.3(EVC):c.2688+1G>C SNV
Germline
Chr4:5808328 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356151348 rs_1553895776

2 SubmittersRCV000669817RCV003767978

NM_153717.3(EVC):c.175-9G>A SNV
Germline
Chr4:5719239 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2835583 rs_753317536

4 SubmittersRCV000754968RCV002275101RCV002531369

NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) SNV
Germline
Chr4:5694444 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA2835494 rs_748820015

1 SubmittersRCV000704338

NM_147127.5(EVC2):c.1470+3A>T SNV
Germline
Chr4:5640511 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2835058 rs_370769794

4 SubmittersRCV000695901RCV002233301

NM_147127.5(EVC2):c.2304G>C (p.Val768=) SNV
Germline
Chr4:5622734 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2834755 rs_139936564

3 SubmittersRCV000728033RCV001082511

NM_147127.5(EVC2):c.765C>T (p.Asn255=) SNV
Germline
Chr4:5685421 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2835309 rs_139129327

3 SubmittersRCV000728037RCV001085162

NM_153717.3(EVC):c.1203C>T (p.Ser401=) SNV
Germline
Chr4:5752940 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA91741841 rs_867155796

2 SubmittersRCV000728911RCV002067091

NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) SNV
Germline
Chr4:5568533 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2834310 rs_201460514

4 SubmittersRCV000756098RCV001146052RCV001083090

NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) SNV
Germline
Chr4:5797098 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836332 rs_149344570

5 SubmittersRCV000757227RCV002533804RCV005240532RCV001085326

NM_153717.3(EVC):c.918C>A (p.Tyr306Ter) SNV
Germline
Chr4:5745320 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356150181 rs_1560323242

1 SubmittersRCV001856175

NM_153717.3(EVC):c.1489C>T (p.Gln497Ter) SNV
Germline
Chr4:5756288 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356157434 rs_1460597472

1 SubmittersRCV003768448

NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) SNV
Germline
Chr4:5576307 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA2834418 rs_144167138

1 SubmittersRCV000801826

NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) SNV
Germline
Chr4:5622670 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356144588 rs_1577170055

2 SubmittersRCV000815558

NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) SNV
Germline
Chr4:5622946 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2834808 rs_781623802

2 SubmittersRCV000812864RCV003736910

NM_153717.3(EVC):c.1321G>A (p.Val441Ile) SNV
Germline
Chr4:5753790 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Condition: not provided
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA2836070 rs_202150959

7 SubmittersRCV000822582RCV001271202RCV001811506RCV004029108RCV004526036

NM_153717.3(EVC):c.2562-2A>G SNV
Germline
Chr4:5808199 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356150319 rs_1293098417

1 SubmittersRCV000800691

NM_147127.5(EVC2):c.2830-1G>T SNV
Germline
Chr4:5584851 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356155234 rs_1553818428

1 SubmittersRCV000818984

NM_147127.5(EVC2):c.707-2A>C SNV
Germline
Chr4:5685481 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356147105 rs_1302074641

1 SubmittersRCV000809734

NM_153717.3(EVC):c.2707A>G (p.Ile903Val) SNV
Germline
Chr4:5809536 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2836664 rs_143678893

4 SubmittersRCV000878661RCV001271213RCV001731968

NM_147127.5(EVC2):c.1005+3G>A SNV
Germline
Chr4:5665512 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2835202 rs_141371552

2 SubmittersRCV000878610RCV002267036

NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) SNV
Germline
Chr4:5568570 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder
Criteria Provided
Conflicting Classifications
CA2834314 rs_200609501

3 SubmittersRCV000951170RCV001148848RCV003960625

NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) SNV
Germline
Chr4:5568590 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2834322 rs_144532809

4 SubmittersRCV000951820RCV001148849RCV001000459RCV003438621

NM_147127.5(EVC2):c.1452G>A (p.Leu484=) SNV
Germline
Chr4:5640532 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2835065 rs_137884710

5 SubmittersRCV000951680RCV001001892RCV001155560RCV001565167

NM_147127.5(EVC2):c.903G>T (p.Gly301=) SNV
Germline
Chr4:5665617 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2835228 rs_745889694

2 SubmittersRCV001151788RCV000945687

NM_147127.5(EVC2):c.328T>C (p.Phe110Leu) SNV
Germline
Chr4:5694457 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2835497 rs_150444745

3 SubmittersRCV000951184RCV004751831RCV004973197

NM_153717.3(EVC):c.589G>T (p.Ala197Ser) SNV
Germline
Chr4:5731629 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA2835741 rs_115507440

6 SubmittersRCV000950901RCV001276227RCV001811546RCV004029812RCV005418930

NM_153717.3(EVC):c.717T>A (p.Ile239=) SNV
Germline
Chr4:5741730 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA2835831 rs_372312182

4 SubmittersRCV000945337RCV001152194RCV003970640

NM_153717.3(EVC):c.1612C>G (p.Leu538Val) SNV
Germline
Chr4:5783600 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2836200 rs_147772724

2 SubmittersRCV000945590RCV002548230

NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) SNV
Germline
Chr4:5797176 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2836356 rs_201877358

3 SubmittersRCV001271208RCV000945579RCV005411617

NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) SNV
Germline
Chr4:5640776 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2835119 rs_202093384

7 SubmittersRCV000884780RCV001595054RCV004973139

NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) SNV
Germline
Chr4:5568458 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2834285 rs_762696562

2 SubmittersRCV000908907RCV001146051

NM_153717.3(EVC):c.2805G>A (p.Arg935=) SNV
Germline
Chr4:5810361 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2836703 rs_143631233

3 SubmittersRCV000908573RCV001152500

NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) SNV
Germline
Chr4:5622728 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2834753 rs_572056540

3 SubmittersRCV000911221RCV003145235

NM_147127.5(EVC2):c.1998G>A (p.Lys666=) SNV
Germline
Chr4:5625797 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2834868 rs_201835379

2 SubmittersRCV000926618RCV001154619

NM_147127.5(EVC2):c.1083C>T (p.Asn361=) SNV
Germline
Chr4:5663169 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2835158 rs_142231129

2 SubmittersRCV000921763RCV001157247

NM_153717.3(EVC):c.1242C>T (p.Ser414=) SNV
Germline
Chr4:5752979 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2836035 rs_769206763

3 SubmittersRCV000911342RCV001152300

NM_153717.3(EVC):c.2624A>T (p.His875Leu) SNV
Germline
Chr4:5808263 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA2836625 rs_200403160

3 SubmittersRCV000922006RCV001271212

NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) SNV
Germline
Chr4:5574730 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA91696618 rs_1006097259

2 SubmittersRCV001148852RCV001501911

NM_153717.3(EVC):c.758C>G (p.Ser253Ter) SNV
Germline
Chr4:5741771 Pathogenic Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2835837 rs_762795511

2 SubmittersRCV000991073RCV005411627

NM_153717.3(EVC):c.940-150T>C SNV
Germline
Chr4:5747998 Conflicting classifications of pathogenicity not specified
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA91735329 rs_576076928

4 SubmittersRCV001002557RCV001272633RCV001427903

NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) SNV
Germline
Chr4:5576372 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA91698031 rs_200560762

1 SubmittersRCV001049244

NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter) SNV
Germline
Chr4:5618645 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356143598 rs_1715453232

1 SubmittersRCV001048066

NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) SNV
Germline
Chr4:5622640 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356144522 rs_1282621867

1 SubmittersRCV001060270

NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) SNV
Germline
Chr4:5631897 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356148890 rs_1284395468

1 SubmittersRCV001052472

NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) SNV
Germline
Chr4:5689195 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA356148297 rs_999964757

2 SubmittersRCV001055590RCV003413868

NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) SNV
Germline
Chr4:5783705 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA356161234 rs_1373148885

3 SubmittersRCV001044889RCV001832427RCV002552569

NM_153717.3(EVC):c.2014C>T (p.Gln672Ter) SNV
Germline
Chr4:5797149 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA2836347 rs_774949132

1 SubmittersRCV001041122

NM_153717.3(EVC):c.2446C>T (p.Gln816Ter) SNV
Germline
Chr4:5802091 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA91720619 rs_374752679

1 SubmittersRCV001035927

NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) SNV
Germline
Chr4:5809560 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2836670 rs_767400887

7 SubmittersRCV001054953RCV001169863RCV001729784

NM_147127.5(EVC2):c.3361-2A>G SNV
Germline
Chr4:5568642 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA91691516 rs_1036371676

1 SubmittersRCV001052250

NM_153717.3(EVC):c.1886+1G>C SNV
Germline
Chr4:5793718 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA2836290 rs_753679094

1 SubmittersRCV001068092

NM_153717.3(EVC):c.617+1G>A SNV
Germline
Chr4:5731658 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356143499 rs_1726841476

2 SubmittersRCV001048504RCV005614484

NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu) SNV
Germline
Chr4:5574756 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2834370 rs_150215092

2 SubmittersRCV001148854RCV003246729

NM_147127.5(EVC2):c.2707-9C>G SNV
Germline
Chr4:5615553 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2834604 rs_772234395

2 SubmittersRCV001146169RCV001490629

NM_147127.5(EVC2):c.1122G>A (p.Gly374=) SNV
Germline
Chr4:5663130 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2835148 rs_780172151

2 SubmittersRCV001157246RCV001493148

NM_147127.5(EVC2):c.597C>T (p.Asn199=) SNV
Germline
Chr4:5689266 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA438204968 rs_1003816966

3 SubmittersRCV001155659RCV003769746RCV004694985

NM_153717.3(EVC):c.1074C>T (p.Cys358=) SNV
Germline
Chr4:5748282 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA91735769 rs_921573510

2 SubmittersRCV001157778RCV001400163

NM_147127.5(EVC2):c.706+13C>T SNV
Germline
Chr4:5689144 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2835363 rs_371526145

2 SubmittersRCV001153034RCV002070863

NM_147127.5(EVC2):c.284-10T>G SNV
Germline
Chr4:5694511 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA1139658426 rs_1192584069

2 SubmittersRCV001157337RCV002070937

NM_153717.3(EVC):c.2782+15C>G SNV
Germline
Chr4:5809626 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA2836686 rs_373862588

2 SubmittersRCV001152499RCV003769730

NM_153717.3(EVC):c.2450-1G>A SNV
Germline
Chr4:5804729 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356148851 rs_1715585498

1 SubmittersRCV001175204

NM_153717.3(EVC):c.612C>A (p.Cys204Ter) SNV
Germline
Chr4:5731652 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356143450 rs_553634958

1 SubmittersRCV001222961

NM_153717.3(EVC):c.2146C>T (p.Gln716Ter) SNV
Germline
Chr4:5798634 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356144993 rs_1714412021

1 SubmittersRCV001223333

NM_153717.3(EVC):c.829C>T (p.Gln277Ter) SNV
Germline
Chr4:5745231 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356149102 rs_1251648799

1 SubmittersRCV001204407

NM_153717.3(EVC):c.1864C>T (p.Arg622Ter) SNV
Germline
Chr4:5793695 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA090952 rs_1329006994

2 SubmittersRCV001201711RCV001828620

NM_147127.5(EVC2):c.519+2T>C SNV
Germline
Chr4:5691263 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356149723 rs_1721102486

1 SubmittersRCV001206918

NM_153717.3(EVC):c.1886+2T>G SNV
Germline
Chr4:5793719 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356141964 rs_1713228964

1 SubmittersRCV001211362

NM_153717.3(EVC):c.703-1G>C SNV
Germline
Chr4:5741715 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356147215 rs_1485152854

1 SubmittersRCV001214558

NM_153717.3(EVC):c.939+1G>A SNV
Germline
Chr4:5745342 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356150225 rs_1553873138

2 SubmittersRCV001223287RCV001833932

NM_153717.3(EVC):c.2098-2A>G SNV
Germline
Chr4:5798584 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356144733 rs_1714398710

1 SubmittersRCV001223607

NM_147127.5(EVC2):c.644G>A (p.Trp215Ter) SNV
Germline
Chr4:5689219 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356148345 rs_1720937470

1 SubmittersRCV001235949

NM_153717.3(EVC):c.973C>T (p.Gln325Ter) SNV
Germline
Chr4:5748181 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356151137 rs_1729654379

1 SubmittersRCV001243415

NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter) SNV
Germline
Chr4:5584847 Pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356155189 rs_1301855639

2 SubmittersRCV001267667RCV001386726

NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter) SNV
Germline
Chr4:5622555 Pathogenic Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356144345 rs_1715768907

2 SubmittersRCV001812320RCV001871668

NM_153717.3(EVC):c.1465-1G>A SNV
Germline
Chr4:5756263 Likely pathogenic Curry-Hall syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356157308 rs_1731156302

2 SubmittersRCV001293691RCV005225361

NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter) SNV
Germline
Chr4:5563024 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356147040 rs_769520928

1 SubmittersRCV001304603

NM_153717.3(EVC):c.107C>G (p.Ala36Gly) SNV
Germline
Chr4:5711487 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
EVC-related disorder
Inborn genetic diseases
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Conflicting Classifications
CA356156557 rs_1219807707

4 SubmittersRCV001830172RCV003973195RCV004036164RCV001300483

NM_147127.5(EVC2):c.2706+1G>A SNV
Germline
Chr4:5618477 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356142837 rs_2108833043

1 SubmittersRCV001377221

NM_147127.5(EVC2):c.1710+2T>C SNV
Germline
Chr4:5631791 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356148424 rs_2108851273

1 SubmittersRCV001379523

NM_147127.5(EVC2):c.816+2T>A SNV
Germline
Chr4:5685368 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356146665 rs_1294715119

1 SubmittersRCV001379931

NM_153717.3(EVC):c.175-2A>G SNV
Germline
Chr4:5719246 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2835585 rs_767186464

4 SubmittersRCV001377982RCV004809578RCV003325231

NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter) SNV
Germline
Chr4:5584783 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356154792 rs_145425340

1 SubmittersRCV001383513

NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) SNV
Germline
Chr4:5625828 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356146018 rs_1367694162

2 SubmittersRCV001386071

NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter) SNV
Germline
Chr4:5640574 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356151412 rs_2108863739

1 SubmittersRCV001389734

NM_147127.5(EVC2):c.253A>T (p.Lys85Ter) SNV
Germline
Chr4:5697623 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356152203 rs_2151739558

1 SubmittersRCV001390304

NM_147127.5(EVC2):c.104C>G (p.Ser35Ter) SNV
Germline
Chr4:5708410 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356155193 rs_2151750076

1 SubmittersRCV001389765

NM_153717.3(EVC):c.539C>A (p.Ser180Ter) SNV
Germline
Chr4:5731579 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356142922 rs_762136199

1 SubmittersRCV001382945

NM_153717.3(EVC):c.1021C>T (p.Gln341Ter) SNV
Germline
Chr4:5748229 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356151483 rs_1729663828

1 SubmittersRCV001385786

NM_153717.3(EVC):c.1228G>T (p.Glu410Ter) SNV
Germline
Chr4:5752965 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356153804 rs_2152076522

1 SubmittersRCV001385913

NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) SNV
Germline
Chr4:5804825 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356149820 rs_561852174

2 SubmittersRCV001387037

NM_153717.3(EVC):c.2098-1G>C SNV
Germline
Chr4:5798585 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356144737 rs_773019082

1 SubmittersRCV001580698

NM_153717.3(EVC):c.2519C>T (p.Thr840Met) SNV
Germline
Chr4:5804799 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2836555 rs_143464806

4 SubmittersRCV001752388RCV002544096RCV005225479RCV004040230

NM_153717.3(EVC):c.1327C>T (p.Arg443Ter) SNV
Germline
Chr4:5753796 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356155705 rs_1730760070

2 SubmittersRCV001806404RCV002541450

NM_153717.3(EVC):c.77C>T (p.Ala26Val) SNV
Germline
Chr4:5711457 Conflicting classifications of pathogenicity Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA91734916 rs_1035520087

3 SubmittersRCV001843623RCV002543272RCV005552434

NM_147127.5(EVC2):c.1710+1G>A SNV
Germline
Chr4:5631792 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356148433 rs_2108851279

1 SubmittersRCV001959620

NM_153717.3(EVC):c.940-150T>G SNV
Germline
Chr4:5747998 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC-related disorder
Criteria Provided
Single Submitter
CA1435489302 rs_576076928

2 SubmittersRCV002031272RCV004752132

NM_153717.3(EVC):c.721A>T (p.Lys241Ter) SNV
Germline
Chr4:5741734 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356147328 rs_2152000498

1 SubmittersRCV001993000

NM_153717.3(EVC):c.788C>G (p.Ser263Ter) SNV
Germline
Chr4:5741801 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356147768 rs_2152001027

1 SubmittersRCV001899273

NM_153717.3(EVC):c.2488G>T (p.Glu830Ter) SNV
Germline
Chr4:5804768 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356149320 rs_2152375194

1 SubmittersRCV001892851

NM_147127.5(EVC2):c.1470+1G>C SNV
Germline
Chr4:5640513 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356151133 rs_1577194652

1 SubmittersRCV001990716

NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter) SNV
Germline
Chr4:5565262 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA2834239 rs_369739594

1 SubmittersRCV001889169

NM_147127.5(EVC2):c.2046+1G>A SNV
Germline
Chr4:5625748 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA2834856 rs_762947212

1 SubmittersRCV001991637

NM_153717.3(EVC):c.1168C>T (p.Gln390Ter) SNV
Germline
Chr4:5752905 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA356153527 rs_1560340266

2 SubmittersRCV001941809RCV003395319

NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) SNV
Germline
Chr4:5798620 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2836399 rs_373726507

3 SubmittersRCV001964191RCV002571287

NM_153717.3(EVC):c.1324C>T (p.Gln442Ter) SNV
Germline
Chr4:5753793 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA2836072 rs_753152908

1 SubmittersRCV001917509

NM_147127.5(EVC2):c.551G>A (p.Arg184His) SNV
Germline
Chr4:5689312 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2835403 rs_771841841

3 SubmittersRCV001900427RCV005564965RCV005242116

NM_147127.5(EVC2):c.816+1G>T SNV
Germline
Chr4:5685369 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356146667 rs_1355905411

2 SubmittersRCV002019716

NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter) SNV
Germline
Chr4:5615522 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356142407 rs_2108829049

1 SubmittersRCV001884555

NM_147127.5(EVC2):c.802C>T (p.Gln268Ter) SNV
Germline
Chr4:5685384 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356146711 rs_2151728030

1 SubmittersRCV001959706

NM_147127.5(EVC2):c.870+1G>A SNV
Germline
Chr4:5681259 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356145713 rs_2151724043

1 SubmittersRCV002019155

NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) SNV
Germline
Chr4:5797213 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356144059 rs_1714132239

2 SubmittersRCV002037849RCV002307806

NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) SNV
Germline
Chr4:5625899 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2834888 rs_779707723

2 SubmittersRCV002002395

NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter) SNV
Germline
Chr4:5640654 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2835092 rs_372215987

2 SubmittersRCV002037810RCV005238108

NM_153717.3(EVC):c.25A>T (p.Lys9Ter) SNV
Germline
Chr4:5711405 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356156232 rs_1425513399

1 SubmittersRCV002007593

NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter) SNV
Germline
Chr4:5622850 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356145123 rs_2108839112

2 SubmittersRCV001960740RCV005242138

NM_147127.5(EVC2):c.3273-2A>C SNV
Germline
Chr4:5574774 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356151050 rs_2108777040

1 SubmittersRCV002009459

NM_153717.3(EVC):c.1687G>T (p.Glu563Ter) SNV
Germline
Chr4:5783675 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356161063 rs_539010490

1 SubmittersRCV001941596

NM_147127.5(EVC2):c.820A>T (p.Arg274Ter) SNV
Germline
Chr4:5681310 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356145815 rs_2151724149

1 SubmittersRCV001950069

NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter) SNV
Germline
Chr4:5640681 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356151793 rs_1369020144

1 SubmittersRCV001946943

NM_147127.5(EVC2):c.706+2T>C SNV
Germline
Chr4:5689155 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356148208 rs_1360260333

2 SubmittersRCV002030119

NM_147127.5(EVC2):c.986A>G (p.Asn329Ser) SNV
Germline
Chr4:5665534 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2835206 rs_368314615

2 SubmittersRCV001912974RCV004041789

NM_147127.5(EVC2):c.832A>T (p.Lys278Ter) SNV
Germline
Chr4:5681298 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356145791 rs_942590430

1 SubmittersRCV001936430

NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) SNV
Germline
Chr4:5708397 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356154768 rs_2151750059

2 SubmittersRCV001946640

NM_153717.3(EVC):c.1501C>T (p.Gln501Ter) SNV
Germline
Chr4:5756300 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356157481 rs_373088008

1 SubmittersRCV001956415

NM_147127.5(EVC2):c.3508G>A (p.Ala1170Thr) SNV
Germline
Chr4:5568493 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2834297 rs_748514374

2 SubmittersRCV002051351RCV005564928

NM_147127.5(EVC2):c.116G>A (p.Trp39Ter) SNV
Germline
Chr4:5708398 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356154776 rs_1345487794

1 SubmittersRCV001951340

NM_153717.3(EVC):c.2698C>T (p.Gln900Ter) SNV
Germline
Chr4:5809527 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356152608 rs_1039706882

1 SubmittersRCV001883666

NM_147127.5(EVC2):c.2829+1G>A SNV
Germline
Chr4:5615421 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA2834572 rs_752255602

1 SubmittersRCV002010308

NM_153717.3(EVC):c.286A>T (p.Lys96Ter) SNV
Germline
Chr4:5719359 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356158372 rs_2151842550

1 SubmittersRCV001985091

NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter) SNV
Germline
Chr4:5584657 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356153760 rs_60809236

1 SubmittersRCV001949568

NM_153717.3(EVC):c.174+1G>T SNV
Germline
Chr4:5711555 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356156775 rs_2151768710

1 SubmittersRCV001956567

NM_153717.3(EVC):c.1886+5G>A SNV
Germline
Chr4:5793722 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA549403915 rs_794726665

2 SubmittersRCV001958682RCV003225211

NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter) SNV
Germline
Chr4:5631974 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356149425 rs_2108851695

1 SubmittersRCV001951546

NM_147127.5(EVC2):c.655G>T (p.Gly219Ter) SNV
Germline
Chr4:5689208 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA2835378 rs_745404766

1 SubmittersRCV001895069

NM_147127.5(EVC2):c.380T>A (p.Leu127Ter) SNV
Germline
Chr4:5694405 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356150448 rs_2151736638

1 SubmittersRCV002240134

NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter) SNV
Unknown
Chr4:5584637 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356153691 rs_2475235098

1 SubmittersRCV002309656

NM_147127.5(EVC2):c.316A>T (p.Lys106Ter) SNV
Unknown
Chr4:5694469 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356150779 rs_2474100970

1 SubmittersRCV002309770

NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter) SNV
Unknown
Chr4:5615514 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356142395 rs_2475350575

1 SubmittersRCV002309819

NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter) SNV
Unknown
Chr4:5584802 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356154936 rs_868183689

1 SubmittersRCV002309836

NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter) SNV
Unknown
Chr4:5615487 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356142334 rs_2475350406

1 SubmittersRCV002309841

NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter) SNV
Unknown
Chr4:5640671 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356151747 rs_2475438200

1 SubmittersRCV002309870

NM_153717.3(EVC):c.2191G>T (p.Glu731Ter) SNV
Germline
Chr4:5798679 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356145185 rs_2474424607

2 SubmittersRCV003099152RCV002309081

NM_153717.3(EVC):c.857C>A (p.Ser286Ter) SNV
Unknown
Chr4:5745259 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356149360 rs_139263450

1 SubmittersRCV002309231

NM_153717.3(EVC):c.2026G>T (p.Glu676Ter) SNV
Unknown
Chr4:5797161 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356143950 rs_367968708

1 SubmittersRCV002306859

NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter) SNV
Unknown
Chr4:5568466 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356149020 rs_2475182808

1 SubmittersRCV002306910

NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter) SNV
Unknown
Chr4:5640798 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356152455 rs_2108864342

1 SubmittersRCV002306988

NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter) SNV
Unknown
Chr4:5625899 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356146256 rs_779707723

1 SubmittersRCV002307013

NM_153717.3(EVC):c.2041G>T (p.Glu681Ter) SNV
Unknown
Chr4:5797176 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356143978 rs_201877358

1 SubmittersRCV002307035

NM_153717.3(EVC):c.636T>A (p.Cys212Ter) SNV
Unknown
Chr4:5733369 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356144149 rs_2151945944

1 SubmittersRCV002307157

NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter) SNV
Unknown
Chr4:5625790 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356145923 rs_2475385703

1 SubmittersRCV002307278

NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter) SNV
Unknown
Chr4:5584829 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356155097 rs_1383783171

1 SubmittersRCV002310089

NM_153717.3(EVC):c.1290G>A (p.Trp430Ter) SNV
Unknown
Chr4:5753027 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356154417 rs_2475386875

1 SubmittersRCV002310181

NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter) SNV
Unknown
Chr4:5663240 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356142048 rs_2475506558

1 SubmittersRCV002310500

NM_147127.5(EVC2):c.1497G>A (p.Leu499=) SNV
Germline
Chr4:5632006 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2835030 rs_111779557

2 SubmittersRCV003062555RCV005256881

NM_153717.3(EVC):c.91G>A (p.Ala31Thr) SNV
Germline
Chr4:5711471 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA91734938 rs_952757087

3 SubmittersRCV003041207RCV003062640RCV005255739

NM_147127.5(EVC2):c.3102G>T (p.Gln1034His) SNV
Germline
Chr4:5576410 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2834445 rs_377393052

2 SubmittersRCV003087481RCV004071911

NM_153717.3(EVC):c.2029C>T (p.Gln677Ter) SNV
Germline
Chr4:5797164 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356143956 rs_2474384588

1 SubmittersRCV003090305

NM_153717.3(EVC):c.2079G>A (p.Trp693Ter) SNV
Germline
Chr4:5797214 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356144062 rs_1344124533

1 SubmittersRCV002598826

NM_153717.3(EVC):c.700A>G (p.Met234Val) SNV
Germline
Chr4:5733433 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
Criteria Provided
Conflicting Classifications
CA2835800 rs_758352741

2 SubmittersRCV002591578RCV005434010

NM_153717.3(EVC):c.154C>T (p.Arg52Cys) SNV
Germline
Chr4:5711534 Conflicting classifications of pathogenicity Inborn genetic diseases
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA91734974 rs_932851648

2 SubmittersRCV002637792RCV002637793

NM_153717.3(EVC):c.2497A>G (p.Asn833Asp) SNV
Germline
Chr4:5804777 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2836547 rs_754135892

2 SubmittersRCV002634031RCV005333547

NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter) SNV
Germline
Chr4:5622673 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356144596 rs_765883164

1 SubmittersRCV002664334

NM_153717.3(EVC):c.1098+1G>A SNV
Germline
Chr4:5748307 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356152083 rs_1729681346

1 SubmittersRCV002651800

NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter) SNV
Germline
Chr4:5618504 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356142976 rs_2475360211

1 SubmittersRCV002593970

NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter) SNV
Germline
Chr4:5622970 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356145546 rs_1715829691

1 SubmittersRCV002631782

NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter) SNV
Germline
Chr4:5576261 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA2834404 rs_755880828

1 SubmittersRCV002666750

NM_147127.5(EVC2):c.662G>A (p.Arg221Lys) SNV
Germline
Chr4:5689201 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA356148310 rs_1720934756

2 SubmittersRCV002734834RCV005552755

NM_153717.3(EVC):c.2686C>T (p.Gln896Ter) SNV
Germline
Chr4:5808325 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356151328 rs_1326731095

1 SubmittersRCV002775656

NM_153717.3(EVC):c.1099-1G>A SNV
Germline
Chr4:5752835 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356153234 rs_2475378269

1 SubmittersRCV002838926

NM_153717.3(EVC):c.1099-2A>C SNV
Germline
Chr4:5752834 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356153231 rs_1553875596

1 SubmittersRCV002830096

NM_147127.5(EVC2):c.450+2T>G SNV
Germline
Chr4:5694333 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356150231 rs_781096099

1 SubmittersRCV002885119

NM_153717.3(EVC):c.385-1G>A SNV
Germline
Chr4:5731424 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356142468 rs_2474666866

1 SubmittersRCV002875515

NM_153717.3(EVC):c.1887-2A>T SNV
Germline
Chr4:5797020 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356143631 rs_2474380998

1 SubmittersRCV002875563

NM_153717.3(EVC):c.802-2A>G SNV
Germline
Chr4:5745202 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356148807 rs_2475056620

1 SubmittersRCV002876450

NM_153717.3(EVC):c.1776+2T>C SNV
Germline
Chr4:5783766 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356161598 rs_1577564571

1 SubmittersRCV002876169

NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter) SNV
Germline
Chr4:5622982 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356145591 rs_2475376941

1 SubmittersRCV002871509

NM_153717.3(EVC):c.2258G>A (p.Arg753Gln) SNV
Germline
Chr4:5798746 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA2836427 rs_146739019

3 SubmittersRCV002885950RCV002885949RCV005406535

NM_153717.3(EVC):c.736G>T (p.Asp246Tyr) SNV
Germline
Chr4:5741749 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2835835 rs_144029167

2 SubmittersRCV002899994RCV004065998

NM_147127.5(EVC2):c.519+2T>G SNV
Germline
Chr4:5691263 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356149720 rs_1721102486

1 SubmittersRCV002908238

NM_153717.3(EVC):c.1659G>C (p.Glu553Asp) SNV
Germline
Chr4:5783647 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Criteria Provided
Conflicting Classifications
CA2836216 rs_150425919

2 SubmittersRCV002900269RCV003395533

NM_153717.3(EVC):c.230C>T (p.Ser77Leu) SNV
Germline
Chr4:5719303 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2835605 rs_766938849

2 SubmittersRCV002913247RCV004066116

NM_153717.3(EVC):c.1207G>A (p.Gly403Ser) SNV
Germline
Chr4:5752944 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2836033 rs_183114391

2 SubmittersRCV002953371RCV004763486

NM_153717.3(EVC):c.1495C>G (p.Leu499Val) SNV
Germline
Chr4:5756294 Conflicting classifications of pathogenicity Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified
Criteria Provided
Conflicting Classifications
CA2836141 rs_139157869

2 SubmittersRCV002958723RCV005239564

NM_153717.3(EVC):c.2T>C (p.Met1Thr) SNV
Germline
Chr4:5711382 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356156115 rs_1553857801

1 SubmittersRCV002954055

NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter) SNV
Germline
Chr4:5584837 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356155148 rs_2475236718

1 SubmittersRCV002934077

NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter) SNV
Germline
Chr4:5640643 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356151640 rs_186349183

2 SubmittersRCV002971639

NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter) SNV
Germline
Chr4:5622628 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356144493 rs_2475374019

1 SubmittersRCV002976184

NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter) SNV
Germline
Chr4:5628654 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356147706 rs_1716303868

1 SubmittersRCV002972228

NM_153717.3(EVC):c.157C>T (p.Gln53Ter) SNV
Germline
Chr4:5711537 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356156711 rs_2474198889

1 SubmittersRCV003010421

NM_153717.3(EVC):c.1657G>T (p.Glu553Ter) SNV
Germline
Chr4:5783645 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356160885 rs_770649751

1 SubmittersRCV003018999

NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter) SNV
Germline
Chr4:5802024 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356146735 rs_2474507123

1 SubmittersRCV003006205

NM_153717.3(EVC):c.617+2T>A SNV
Germline
Chr4:5731659 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356143507 rs_2474673801

1 SubmittersRCV003038851

NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter) SNV
Germline
Chr4:5584787 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2834531 rs_779407729

2 SubmittersRCV003026355

NM_147127.5(EVC2):c.519+1G>A SNV
Germline
Chr4:5691264 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356149737 rs_1339651649

1 SubmittersRCV003029096

NM_153717.3(EVC):c.1084G>T (p.Glu362Ter) SNV
Germline
Chr4:5748292 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356151927 rs_1560329339

1 SubmittersRCV003029107

NM_147127.5(EVC2):c.703C>T (p.Gln235Ter) SNV
Germline
Chr4:5689160 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356148223 rs_1421156255

1 SubmittersRCV003043403

NM_153717.3(EVC):c.1A>G (p.Met1Val) SNV
Germline
Chr4:5711381 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356156110 rs_1324604027

1 SubmittersRCV003055156

NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter) SNV
Germline
Chr4:5783560 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356160525 rs_1735952327

1 SubmittersRCV003052019

NM_147127.5(EVC2):c.3558-2A>G SNV
Germline
Chr4:5565361 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356148205 rs_1319211611

1 SubmittersRCV003059631

NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter) SNV
Germline
Chr4:5584691 Pathogenic/Likely pathogenic Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356153971 rs_2475235455

2 SubmittersRCV003236248RCV005029950

NM_153717.3(EVC):c.801+1G>T SNV
Germline
Chr4:5741815 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356147859 rs_1447653524

4 SubmittersRCV003322662RCV004572927RCV003777326

NM_147127.5(EVC2):c.1987G>T (p.Glu663Ter) SNV
Germline
Chr4:5625808 Pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided
CA356145965 rs_2475385815

1 SubmittersRCV003330360

NM_153717.3(EVC):c.618-2A>G SNV
Germline
Chr4:5733349 Pathogenic EVC-related disorder
Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356144108 rs_1443064804

2 SubmittersRCV003419047RCV003778311

NM_147127.5(EVC2):c.3558G>A (p.Arg1186=) SNV
Germline
Chr4:5565359 Conflicting classifications of pathogenicity Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications
CA438203186 rs_1331241591

2 SubmittersRCV003439224RCV005216099

NM_153717.3(EVC):c.653T>G (p.Leu218Ter) SNV
Germline
Chr4:5733386 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356144187 rs_2474717066

2 SubmittersRCV003784600RCV004796845

NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter) SNV
Germline
Chr4:5618486 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356142883 rs_1715435004

1 SubmittersRCV003781028

NM_147127.5(EVC2):c.3272+1G>T SNV
Germline
Chr4:5576239 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356151780 rs_2475207726

1 SubmittersRCV003790103

NM_153717.3(EVC):c.2662G>T (p.Glu888Ter) SNV
Germline
Chr4:5808301 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356151124 rs_2474656314

1 SubmittersRCV003795604

NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter) SNV
Germline
Chr4:5584799 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA91704247 rs_1043590599

2 SubmittersRCV003789311

NM_153717.3(EVC):c.14G>T (p.Gly5Val) SNV
Germline
Chr4:5711394 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA91734829 rs_939779373

2 SubmittersRCV003787034RCV005325824

NM_153717.3(EVC):c.1A>C (p.Met1Leu) SNV
Germline
Chr4:5711381 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356156107 rs_1324604027

1 SubmittersRCV003798259

NM_147127.5(EVC2):c.3058-1G>C SNV
Germline
Chr4:5576455 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356152885 rs_1722942071

1 SubmittersRCV003792070

NM_147127.5(EVC2):c.2501+1G>T SNV
Germline
Chr4:5622536 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356144300 rs_2475373423

1 SubmittersRCV003794670

NM_147127.5(EVC2):c.1470+2T>C SNV
Germline
Chr4:5640512 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356151119 rs_2475436920

1 SubmittersRCV003807937

NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter) SNV
Germline
Chr4:5622658 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356144563 rs_2475374238

1 SubmittersRCV003808108

NM_153717.3(EVC):c.1777-2A>C SNV
Germline
Chr4:5793606 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356141466 rs_909612975

1 SubmittersRCV003806451

NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter) SNV
Germline
Chr4:5563041 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356147124 rs_2475166040

1 SubmittersRCV003806960

NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe) SNV
Germline
Chr4:5631963 Conflicting classifications of pathogenicity Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2835016 rs_757570584

3 SubmittersRCV003790947RCV004593462RCV004801399

NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter) SNV
Germline
Chr4:5618651 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA2834675 rs_576455064

1 SubmittersRCV003791042

NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter) SNV
Germline
Chr4:5631984 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356149489 rs_2475407665

1 SubmittersRCV003805456

NM_153717.3(EVC):c.801+2T>C SNV
Germline
Chr4:5741816 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356147864 rs_1553871866

1 SubmittersRCV003805954

NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter) SNV
Germline
Chr4:5618552 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356143265 rs_2475360496

1 SubmittersRCV003805997

NM_147127.5(EVC2):c.557G>A (p.Trp186Ter) SNV
Germline
Chr4:5689306 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356148635 rs_2475591669

1 SubmittersRCV003803905

NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter) SNV
Germline
Chr4:5802027 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356146754 rs_1276815916

1 SubmittersRCV003798870

NM_153717.3(EVC):c.2688+2T>G SNV
Germline
Chr4:5808329 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356151360 rs_1577664431

1 SubmittersRCV003799137

NM_147127.5(EVC2):c.817-1G>T SNV
Germline
Chr4:5681314 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356145825 rs_2475566241

1 SubmittersRCV003802900

NM_147127.5(EVC2):c.2829+2T>C SNV
Germline
Chr4:5615420 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356142182 rs_2475350092

1 SubmittersRCV003803222

NM_147127.5(EVC2):c.2707-1G>A SNV
Germline
Chr4:5615545 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356142461 rs_749251178

1 SubmittersRCV003803359

NM_153717.3(EVC):c.248C>G (p.Ser83Ter) SNV
Germline
Chr4:5719321 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356158278 rs_886059495

1 SubmittersRCV003808564

NM_153717.3(EVC):c.2167C>T (p.Gln723Ter) SNV
Germline
Chr4:5798655 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356145085 rs_2474424005

1 SubmittersRCV003809074

NM_147127.5(EVC2):c.1005+1G>A SNV
Germline
Chr4:5665514 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356142756 rs_2475514671

1 SubmittersRCV003807153

NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter) SNV
Germline
Chr4:5663120 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356141487 rs_184703595

1 SubmittersRCV003809356

NM_153717.3(EVC):c.300+1G>T SNV
Germline
Chr4:5719374 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356158433 rs_2474376997

1 SubmittersRCV003804575

NM_147127.5(EVC2):c.520-2A>T SNV
Germline
Chr4:5689345 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356148797 rs_2475591881

1 SubmittersRCV003804614

NM_153717.3(EVC):c.958C>T (p.Gln320Ter) SNV
Germline
Chr4:5748166 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356151068 rs_2475159965

1 SubmittersRCV003813527

NM_153717.3(EVC):c.2449+2T>C SNV
Germline
Chr4:5802096 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356147234 rs_2474508727

1 SubmittersRCV003815726

NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter) SNV
Germline
Chr4:5625754 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356145847 rs_2475385307

2 SubmittersRCV003810072

NM_153717.3(EVC):c.2097+1G>A SNV
Germline
Chr4:5797233 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356144101 rs_1553891368

1 SubmittersRCV003813319

NM_147127.5(EVC2):c.1146-2A>T SNV
Germline
Chr4:5640840 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356152989 rs_1717279590

1 SubmittersRCV003813321

NM_147127.5(EVC2):c.790C>T (p.Gln264Ter) SNV
Germline
Chr4:5685396 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA2835303 rs_760459672

1 SubmittersRCV003812840

NM_153717.3(EVC):c.613G>T (p.Glu205Ter) SNV
Germline
Chr4:5731653 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356143467 rs_775555999

1 SubmittersRCV003812849

NM_147127.5(EVC2):c.450+1G>C SNV
Germline
Chr4:5694334 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356150234 rs_1447633595

1 SubmittersRCV003812861

NM_147127.5(EVC2):c.3058-1G>T SNV
Germline
Chr4:5576455 Likely pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356152883 rs_1722942071

1 SubmittersRCV003812978

NM_147127.5(EVC2):c.2829+2T>G SNV
Germline
Chr4:5615420 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter
CA356142181 rs_2475350092

1 SubmittersRCV003807251

NM_153717.3(EVC):c.1462G>T (p.Glu488Ter) SNV
Germline
Chr4:5753931 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter
CA356156405 rs_146232611

1 SubmittersRCV003818126

NM_153717.3(EVC):c.1363C>T (p.Gln455Ter) SNV
Germline
Chr4:5753832 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter
CA356155854 rs_1730766213

1 SubmittersRCV003990160

NM_147127.5(EVC2):c.1397T>C (p.Met466Thr) SNV
Germline
Chr4:5640587 Conflicting classifications of pathogenicity Inborn genetic diseases
Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004622791RCV005216278

NM_147127.5(EVC2):c.2335G>T (p.Glu779Ter) SNV
Germline
Chr4:5622703 Pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004797162

NM_147127.5(EVC2):c.2047-1G>T SNV
Germline
Chr4:5622992 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004799122

NM_147127.5(EVC2):c.1828C>T (p.Gln610Ter) SNV
Germline
Chr4:5628617 Pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004821218

NM_147127.5(EVC2):c.3286C>T (p.Gln1096Ter) SNV
Germline
Chr4:5574759 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027357

NM_147127.5(EVC2):c.2974C>T (p.Gln992Ter) SNV
Germline
Chr4:5584706 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005039156

NM_147127.5(EVC2):c.2710C>T (p.Gln904Ter) SNV
Germline
Chr4:5615541 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027359

NM_147127.5(EVC2):c.2707-2A>G SNV
Germline
Chr4:5615546 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027360

NM_147127.5(EVC2):c.2501+2T>G SNV
Germline
Chr4:5622535 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027362

NM_147127.5(EVC2):c.2320C>T (p.Gln774Ter) SNV
Germline
Chr4:5622718 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027365

NM_147127.5(EVC2):c.1522G>T (p.Glu508Ter) SNV
Germline
Chr4:5631981 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027367

NM_147127.5(EVC2):c.1145+2T>G SNV
Germline
Chr4:5663105 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027370

NM_147127.5(EVC2):c.870+2T>C SNV
Germline
Chr4:5681258 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005039158

NM_147127.5(EVC2):c.558G>A (p.Trp186Ter) SNV
Germline
Chr4:5689305 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005039159

NM_147127.5(EVC2):c.469G>T (p.Glu157Ter) SNV
Germline
Chr4:5691315 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005039160

NM_147127.5(EVC2):c.228+2T>G SNV
Germline
Chr4:5708284 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027373

NM_147127.5(EVC2):c.35G>A (p.Trp12Ter) SNV
Germline
Chr4:5708479 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027374

NM_147127.5(EVC2):c.3G>C (p.Met1Ile) SNV
Germline
Chr4:5708511 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005039162

NM_153717.3(EVC):c.220C>T (p.Gln74Ter) SNV
Germline
Chr4:5719293 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005039164

NM_153717.3(EVC):c.384+1G>T SNV
Germline
Chr4:5729391 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027376

NM_153717.3(EVC):c.618-1G>A SNV
Germline
Chr4:5733350 Pathogenic/Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005027380

NM_153717.3(EVC):c.1316-7A>G SNV
Germline
Chr4:5753778 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027383

NM_153717.3(EVC):c.1981C>T (p.Gln661Ter) SNV
Germline
Chr4:5797116 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005027402

NM_153717.3(EVC):c.2695G>T (p.Glu899Ter) SNV
Germline
Chr4:5809524 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005039173

NM_153717.3(EVC):c.2098G>T (p.Glu700Ter) SNV
Germline
Chr4:5798586 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005219736

NM_147127.5(EVC2):c.3575G>A (p.Trp1192Ter) SNV
Germline
Chr4:5565342 Pathogenic Ellis-van Creveld syndrome
Curry-Hall syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005212829

NM_147127.5(EVC2):c.2938G>T (p.Glu980Ter) SNV
Germline
Chr4:5584742 Pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005226332

NM_153717.3(EVC):c.918C>G (p.Tyr306Ter) SNV
Germline
Chr4:5745320 Likely pathogenic Curry-Hall syndrome
Ellis-van Creveld syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005398238

NM_153717.3(EVC):c.496C>T (p.Gln166Ter) SNV
Germline
Chr4:5731536 Likely pathogenic Ellis-van Creveld syndrome No Assertion Criteria Provided

1 SubmittersRCV005619397

NM_153717.3(EVC):c.2188C>T (p.Gln730Ter) SNV
Germline
Chr4:5798676 Likely pathogenic Ellis-van Creveld syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005623653