A total 74 pathogenic variants reported in gene endothelin converting enzyme like 1 (ECEL1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004826.4(ECEL1):c.1252C>A (p.Arg418Ser) SNV
Germline		 Chr2:232484156 Pathogenic Distal arthrogryposis type 5D No Assertion Criteria Provided
 CA130332 rs_587776919

1 SubmittersRCV000032686
NM_004826.4(ECEL1):c.1184+3A>T SNV
Germline		 Chr2:232484469 Pathogenic Distal arthrogryposis type 5D No Assertion Criteria Provided
 CA130333 rs_587776920

1 SubmittersRCV000032687
NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys) SNV
Germline		 Chr2:232484156 Likely pathogenic Distal arthrogryposis type 5D
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130334 rs_587776919

3 SubmittersRCV000032688RCV004589526
NM_004826.4(ECEL1):c.2278T>C (p.Cys760Arg) SNV
Germline		 Chr2:232480203 Pathogenic Distal arthrogryposis type 5D No Assertion Criteria Provided
 CA150590 rs_587777129

1 SubmittersRCV000087050
NM_004826.4(ECEL1):c.1649C>G (p.Ser550Ter) SNV
Germline		 Chr2:232482887 Pathogenic Distal arthrogryposis type 5D No Assertion Criteria Provided
 CA150591 rs_587777130

1 SubmittersRCV000087051
NM_004826.4(ECEL1):c.1685+1G>T SNV
Germline		 Chr2:232482850 Pathogenic Distal arthrogryposis type 5D No Assertion Criteria Provided
 CA150593 rs_587777131

1 SubmittersRCV000087052
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) SNV
Germline		 Chr2:232481123 Pathogenic Distal arthrogryposis type 5D
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA174029 rs_606231471

4 SubmittersRCV000148953RCV001588999
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) SNV
Germline		 Chr2:232484198 Conflicting classifications of pathogenicity Condition: not provided
Distal arthrogryposis type 5D		 Criteria Provided
Conflicting Classifications
 CA236127 rs_532757890

6 SubmittersRCV000171336RCV000502956
NM_004826.4(ECEL1):c.2229-7A>C SNV
Germline		 Chr2:232480259 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA209718 rs_368488157

2 SubmittersRCV000195113RCV000893886
NM_004826.4(ECEL1):c.1507-9G>A SNV
Germline		 Chr2:232483188 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA205695 rs_797045548

2 SubmittersRCV000192697RCV003221845
NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter) SNV
Germline		 Chr2:232484863 Pathogenic Distal arthrogryposis type 5D
Condition: not provided
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA206144 rs_370167241

6 SubmittersRCV000192968RCV000478078RCV002252045
NM_004826.4(ECEL1):c.1184G>A (p.Arg395Gln) SNV
Germline		 Chr2:232484472 Pathogenic/Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Multiple Submitters
No Conflicts
 CA10581434 rs_765430577

2 SubmittersRCV000224050
NM_004826.4(ECEL1):c.869A>G (p.Tyr290Cys) SNV
Germline		 Chr2:232485078 Pathogenic Distal arthrogryposis type 5D No Assertion Criteria Provided
 CA10581435 rs_878853117

1 SubmittersRCV001260455
NM_004826.4(ECEL1):c.4G>T (p.Glu2Ter) SNV
Germline		 Chr2:232486650 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA16042394 rs_1057518181

1 SubmittersRCV000414469
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) SNV
Germline		 Chr2:232483452 Pathogenic Distal arthrogryposis type 5D
Condition: not provided
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2167284 rs_149459910

11 SubmittersRCV000414781RCV000627254RCV002252117
NM_004826.4(ECEL1):c.1797-8G>A SNV
Germline		 Chr2:232481857 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA645372378 rs_1553566820

1 SubmittersRCV000500782
NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys) SNV
Germline		 Chr2:232484199 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Multiple Submitters
No Conflicts
 CA351000020 rs_1553567411

2 SubmittersRCV000499873
NM_004826.4(ECEL1):c.2151+2T>A SNV
Germline		 Chr2:232480716 Pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA350996470 rs_762979130

1 SubmittersRCV000578278
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro) SNV
Germline		 Chr2:232486160 Conflicting classifications of pathogenicity Inborn genetic diseases
Arthrogryposis multiplex congenita
Distal arthrogryposis type 5D
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2167588 rs_765305996

5 SubmittersRCV000623280RCV000787365RCV001809702RCV001756022
NM_004826.4(ECEL1):c.1A>G (p.Met1Val) SNV
Germline		 Chr2:232486653 Likely pathogenic Distal arthrogryposis type 5D No Assertion Criteria Provided
 CA351005036 rs_1356994386

1 SubmittersRCV000722104
NM_004826.4(ECEL1):c.1990-3C>G SNV
Germline		 Chr2:232481159 Likely pathogenic Distal arthrogryposis type 5D No Assertion Criteria Provided
 CA431791237 rs_1229171141

1 SubmittersRCV000735426
NM_004826.4(ECEL1):c.2105G>T (p.Arg702Leu) SNV
Germline		 Chr2:232480764 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA2166944 rs_117012322

3 SubmittersRCV000762326
NM_004826.4(ECEL1):c.328C>G (p.Arg110Gly) SNV
Germline		 Chr2:232486326 Conflicting classifications of pathogenicity Condition: not provided
ECEL1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2167620 rs_202167077

4 SubmittersRCV000880762RCV003920517RCV004973134
NM_004826.4(ECEL1):c.155T>C (p.Leu52Pro) SNV
Germline		 Chr2:232486499 Conflicting classifications of pathogenicity Condition: not provided
ECEL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2167634 rs_564717204

4 SubmittersRCV000879058RCV003908381
NM_004826.4(ECEL1):c.1499G>A (p.Arg500Gln) SNV
Germline		 Chr2:232483423 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2167278 rs_151119841

3 SubmittersRCV000934949RCV002542295
NM_004826.4(ECEL1):c.1990-6C>T SNV
Germline		 Chr2:232481162 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
ECEL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2166997 rs_180767588

3 SubmittersRCV000929771RCV001266731RCV004756115
NM_004826.4(ECEL1):c.1147C>T (p.Gln383Ter) SNV
Germline		 Chr2:232484509 Pathogenic Distal arthrogryposis type 5D No Assertion Criteria Provided
 CA351001102 rs_1190799930

1 SubmittersRCV001007828
NM_004826.4(ECEL1):c.1581+1G>A SNV
Germline		 Chr2:232483104 Pathogenic Distal arthrogryposis type 5D No Assertion Criteria Provided
 CA350998866 rs_1575076514

1 SubmittersRCV001007826
NM_004826.4(ECEL1):c.1506+1G>A SNV
Germline		 Chr2:232483415 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA350999279 rs_1690636140

1 SubmittersRCV001171825
NM_004826.4(ECEL1):c.2151+1G>T SNV
Germline		 Chr2:232480717 Pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA350996471 rs_1421294063

1 SubmittersRCV001354049
NM_004826.4(ECEL1):c.1868G>C (p.Gly623Ala) SNV
Germline		 Chr2:232481627 Conflicting classifications of pathogenicity Condition: not provided
ECEL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2167047 rs_138272112

3 SubmittersRCV001499722RCV003948462
NM_004826.4(ECEL1):c.1185-2A>G SNV
Germline		 Chr2:232484225 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA351000095 rs_2106185000

1 SubmittersRCV001658834
NM_004826.4(ECEL1):c.870C>A (p.Tyr290Ter) SNV
Germline		 Chr2:232485077 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA351002080 rs_1281396824

1 SubmittersRCV002226924
NM_004826.4(ECEL1):c.1211G>A (p.Arg404His) SNV
Germline		 Chr2:232484197 Conflicting classifications of pathogenicity Distal arthrogryposis type 5D
See cases		 Criteria Provided
Conflicting Classifications
 CA2167362 rs_751317107

2 SubmittersRCV002249924RCV002252780
NM_004826.4(ECEL1):c.557C>G (p.Ser186Trp) SNV
Germline		 Chr2:232486097 Pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA351003175 rs_1176131791

1 SubmittersRCV002249926
NM_004826.4(ECEL1):c.2069G>A (p.Trp690Ter) SNV
Germline		 Chr2:232480800 Pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA350996645 rs_2469636612

1 SubmittersRCV002466866
NM_004826.4(ECEL1):c.1907C>T (p.Thr636Met) SNV
Germline		 Chr2:232481588 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA2167037 rs_146580059

1 SubmittersRCV002471964
NM_004826.4(ECEL1):c.2151+2T>C SNV
Germline		 Chr2:232480716 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA2166933 rs_762979130

1 SubmittersRCV002470324
NM_004826.4(ECEL1):c.1531G>A (p.Gly511Ser) SNV
Germline		 Chr2:232483155 Likely pathogenic Distal arthrogryposis type 5D
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350999067 rs_1174232828

3 SubmittersRCV002470360RCV005235663
NM_004826.4(ECEL1):c.1146G>A (p.Met382Ile) SNV
Germline		 Chr2:232484510 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2167393 rs_140675806

2 SubmittersRCV003069045RCV003081557
NM_004826.4(ECEL1):c.1369T>G (p.Phe457Val) SNV
Germline		 Chr2:232484039 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA2167326 rs_778750904

1 SubmittersRCV002790039
NM_004826.4(ECEL1):c.1779C>G (p.Tyr593Ter) SNV
Germline		 Chr2:232482435 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA350997788 rs_552489480

1 SubmittersRCV003120268
NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg) SNV
Germline		 Chr2:232486287 Conflicting classifications of pathogenicity Distal arthrogryposis type 5D Criteria Provided
Conflicting Classifications
 CA351004163 rs_2469652231

2 SubmittersRCV003146998
NM_004826.4(ECEL1):c.1253G>A (p.Arg418His) SNV
Germline		 Chr2:232484155 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA2167354 rs_371924008

1 SubmittersRCV003224953
NM_004826.4(ECEL1):c.1151A>C (p.Gln384Pro) SNV
Germline		 Chr2:232484505 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA351001085 rs_1690668690

1 SubmittersRCV003234944
NM_004826.4(ECEL1):c.1059+1G>A SNV
Germline		 Chr2:232484800 Pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA351001400 rs_1361564818

1 SubmittersRCV003234949
NM_004826.4(ECEL1):c.1685+1G>A SNV
Germline		 Chr2:232482850 Pathogenic Distal arthrogryposis type 5D
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350998398 rs_587777131

2 SubmittersRCV003234955RCV004725696
NM_004826.4(ECEL1):c.1702C>T (p.Gln568Ter) SNV
Unknown		 Chr2:232482592 Pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter
 CA350998243 rs_1400906735

1 SubmittersRCV003314280
NM_004826.4(ECEL1):c.1819G>A (p.Gly607Ser) SNV
Germline		 Chr2:232481827 Conflicting classifications of pathogenicity Distal arthrogryposis type 5D
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004759442RCV004720159
NM_004826.4(ECEL1):c.1686-2A>T SNV
Germline		 Chr2:232482610 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter

1 SubmittersRCV004720566
NM_004826.4(ECEL1):c.589G>A (p.Gly197Ser) SNV
Germline		 Chr2:232486065 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004721883
NM_004826.4(ECEL1):c.69C>A (p.Cys23Ter) SNV
Germline		 Chr2:232486585 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004722189
NM_004826.4(ECEL1):c.1862G>A (p.Trp621Ter) SNV
Germline		 Chr2:232481784 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter

1 SubmittersRCV004775654
NM_004826.4(ECEL1):c.1184+1G>T SNV
Germline		 Chr2:232484471 Likely pathogenic Arthrogryposis Criteria Provided
Single Submitter

1 SubmittersRCV004799092
NM_004826.4(ECEL1):c.402G>A (p.Trp134Ter) SNV
Germline		 Chr2:232486252 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter

1 SubmittersRCV004821347
NM_004826.4(ECEL1):c.966+1G>A SNV
Germline		 Chr2:232484980 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005245149
NM_004826.4(ECEL1):c.1469G>A (p.Trp490Ter) SNV
Germline		 Chr2:232483453 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005244788
NM_004826.4(ECEL1):c.1303C>T (p.Gln435Ter) SNV
Germline		 Chr2:232484105 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter

1 SubmittersRCV005365659
NM_004826.4(ECEL1):c.1933C>T (p.Arg645Ter) SNV
Germline		 Chr2:232481562 Likely pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter

1 SubmittersRCV005430832