ECEL1 — 291 ClinVar variants
All ClinVar germline ECEL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →
30 Pathogenic · 3 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 15 Conflicting · 31 Benign · 7 Benign/Likely benign · 46 Likely benign · 131 Uncertain significance
Full ECEL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 146
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ECEL1 p.Arg395Gln
Pathogenic/Likely pathogenic
Multiple submitters
distal arthrogryposis type 5D
Predictors agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ECEL1 p.Arg110Gly
Conflicting
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg404Cys
Conflicting
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Arg500Gln
Conflicting
Single submitter
Inborn genetic diseases
- ECEL1 p.Arg702Leu Conflicting Single submitter
-
ECEL1 p.Cys123Arg
Conflicting
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Gly604Arg
Conflicting
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Gly607Ser
Conflicting
Single submitter
distal arthrogryposis type 5D
- ECEL1 p.Gly623Ala Conflicting Single submitter
-
ECEL1 p.Leu165Pro
Conflicting
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ser186Trp
Conflicting
Single submitter
distal arthrogryposis type 5D
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ECEL1 p.Arg642Gly
Uncertain significance
Multiple submitters
distal arthrogryposis type 5D
-
ECEL1 p.Gly171Ala
Uncertain significance
Multiple submitters
distal arthrogryposis type 5D
-
ECEL1 p.Gly209Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ECEL1 p.Pro34Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ECEL1 p.Pro567Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ECEL1 p.Ser44Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ECEL1 p.Val774Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ECEL1 p.Ala278Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ala305Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ala41Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ala42Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ala638Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ala638Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ala647Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ECEL1 p.Ala686Val Uncertain significance Single submitter
-
ECEL1 p.Ala769Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg102Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg254Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg332Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg447His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg544His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg544Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg645Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg743Met
Uncertain significance
Single submitter
arthrogryposis multiplex congenita
-
ECEL1 p.Asn571Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Asp253Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Asp330Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Asp594Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Asp619Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ECEL1 p.Cys187Arg Uncertain significance Single submitter
- ECEL1 p.Cys649Gly Uncertain significance Single submitter
-
ECEL1 p.Cys73Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Cys760Phe
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Cys772Arg
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Gln15Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gln318Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gln319Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gln599Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Glu159Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly169Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly197Asp
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Gly215Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly430Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly482Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly604Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly622Arg
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Gly623Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly671Glu
Uncertain significance
Single submitter
distal arthrogryposis type 5D
- ECEL1 p.Gly679Ser Uncertain significance Single submitter
-
ECEL1 p.Ile205Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ile477Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Leu331Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Leu33Gln
Uncertain significance
Single submitter
distal arthrogryposis type 5D
- ECEL1 p.Leu388Arg Uncertain significance Single submitter
- ECEL1 p.Leu670Pro Uncertain significance Single submitter
-
ECEL1 p.Leu680Arg
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Leu680Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Leu733Pro
Uncertain significance
Single submitter
ECEL1-related disorder
-
ECEL1 p.Lys502Asn
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Lys771Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Met294Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Met338Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Met766Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Phe126Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Phe37Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Pro34Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Pro3Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Pro513Leu
Uncertain significance
Single submitter
distal arthrogryposis
-
ECEL1 p.Ser256Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ser639Phe
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Thr46Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Thr46Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Thr669Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Thr734Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Trp490Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Trp690Cys
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Tyr11Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Tyr19His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Tyr400Ser
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Val385Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Val440Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Val67Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Val748Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 52
The independent predictors disagree with each other — read with care.
-
ECEL1 p.Arg756Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ECEL1 p.Asp620Asn Benign Multiple submitters
-
ECEL1 p.Ala109Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ala175Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ala182Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ala223Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ECEL1 p.Ala378Val Uncertain significance Single submitter
-
ECEL1 p.Ala42Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ala493Thr
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Arg191His
Likely benign
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg355Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg404His
Conflicting
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Arg418His
Likely pathogenic
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Arg439Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg484Cys
Uncertain significance
Single submitter
distal arthrogryposis
-
ECEL1 p.Arg484His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg544Cys
Uncertain significance
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Arg627Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg627His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg663Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ECEL1 p.Arg692Trp Uncertain significance Single submitter
-
ECEL1 p.Arg702Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg724Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Asp253Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Asp708Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Asp763Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Glu155Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Glu217Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Glu494Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Glu753Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly132Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly154Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly24Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly605Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly617Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Gly622Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ECEL1 p.His759Pro Uncertain significance Single submitter
-
ECEL1 p.Ile313Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Ile313Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Leu314Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Lys667Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Met382Ile
Conflicting
Single submitter
Inborn genetic diseases
- ECEL1 p.Met506Val Likely benign Single submitter
-
ECEL1 p.Phe68Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Pro34Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ECEL1 p.Ser240Arg Benign Single submitter
-
ECEL1 p.Thr343Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Thr636Met
Likely pathogenic
Single submitter
distal arthrogryposis type 5D
-
ECEL1 p.Tyr640Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Val20Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Val558Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ECEL1 p.Arg663Trp
Uncertain significance
No assertion criteria
ECEL1-related disorder
All ECEL1 variants
Pathogenic 30
- c.1685+1G>A Multiple submitters distal arthrogryposis type 5D
- c.966+1G>A Multiple submitters distal arthrogryposis type 5D
- p.Ala675Thr Multiple submitters distal arthrogryposis type 5D
- p.Arg333Ter Multiple submitters distal arthrogryposis type 5D
- p.Gly170fs Multiple submitters distal arthrogryposis type 5D
- p.Phe37fs Multiple submitters Inborn genetic diseases
- p.Trp490Ter Multiple submitters distal arthrogryposis type 5D
- p.Tyr239Ter Multiple submitters distal arthrogryposis type 5D
- c.1059+1G>A Single submitter distal arthrogryposis type 5D
- c.1185-2A>G Single submitter
- c.1506+1G>A Single submitter
- c.2151+1G>T Single submitter distal arthrogryposis type 5D
- c.2151+2T>A Single submitter distal arthrogryposis type 5D
- p.Cys23Ter Single submitter
- p.Gln348fs Single submitter distal arthrogryposis type 5D
- p.Gln568Ter Single submitter distal arthrogryposis type 5D
- p.Glu2Ter Single submitter
- p.Leu601fs Single submitter
- p.Trp690Ter Single submitter distal arthrogryposis type 5D
- p.Val558fs Single submitter distal arthrogryposis type 5D
- c.1184+3A>T No assertion criteria distal arthrogryposis type 5D
- c.1685+1G>T No assertion criteria distal arthrogryposis type 5D
- p.Arg418Ser No assertion criteria distal arthrogryposis type 5D
- p.Asn115_Ala118del No assertion criteria distal arthrogryposis type 5D
- p.Asp266fs No assertion criteria distal arthrogryposis type 5D
- p.Cys760Arg No assertion criteria distal arthrogryposis type 5D
- p.Gln383Ter No assertion criteria distal arthrogryposis type 5D
- p.Gly169fs No assertion criteria distal arthrogryposis type 5D
- p.Ser550Ter No assertion criteria distal arthrogryposis type 5D
- p.Tyr290Cys No assertion criteria distal arthrogryposis type 5D
Pathogenic/Likely pathogenic 3
- p.Arg395Gln Multiple submitters distal arthrogryposis type 5D ⚠
- p.Gln435Ter Multiple submitters distal arthrogryposis type 5D
- p.Gly27fs Multiple submitters distal arthrogryposis type 5D
Likely pathogenic 28
- p.Arg418Cys Multiple submitters distal arthrogryposis type 5D
- p.Gly511Ser Multiple submitters distal arthrogryposis type 5D
- p.Trp403Cys Multiple submitters distal arthrogryposis type 5D
- c.1184+1G>T Single submitter arthrogryposis
- c.1581+1G>A Single submitter distal arthrogryposis type 5D
- c.1686-2A>T Single submitter distal arthrogryposis type 5D
- c.1797-8G>A Single submitter distal arthrogryposis type 5D
- c.2151+2T>C Single submitter distal arthrogryposis type 5D
- c.2152-15C>A Single submitter distal arthrogryposis type 5D
- p.Arg418His Single submitter distal arthrogryposis type 5D ⚠
- p.Arg49_Ser50delinsPro Single submitter distal arthrogryposis type 5D
- p.Arg645Ter Single submitter distal arthrogryposis type 5D
- p.Gln279Ter Single submitter distal arthrogryposis type 5D
- p.Gln384Pro Single submitter distal arthrogryposis type 5D
- p.Glu13fs Single submitter distal arthrogryposis type 5D
- p.Gly133fs Single submitter distal arthrogryposis type 5D
- p.Gly197Ser Single submitter
- p.Gly93fs Single submitter
- p.Phe111fs Single submitter
- p.Phe457Val Single submitter distal arthrogryposis type 5D
- p.Pro595_Asp596del Single submitter distal arthrogryposis type 5D
- p.Thr636Met Single submitter distal arthrogryposis type 5D ⚠
- p.Trp134Ter Single submitter distal arthrogryposis type 5D
- p.Trp621Ter Single submitter distal arthrogryposis type 5D
- p.Tyr290Ter Single submitter distal arthrogryposis type 5D
- p.Tyr593Ter Single submitter distal arthrogryposis type 5D
- c.1990-3C>G No assertion criteria distal arthrogryposis type 5D
- p.Met1Val No assertion criteria distal arthrogryposis type 5D
Conflicting classifications of pathogenicity 15
- c.1507-9G>A Single submitter
- c.1990-6C>T Single submitter Inborn genetic diseases
- c.2229-7A>C Single submitter
- p.Arg110Gly Single submitter Inborn genetic diseases ⚠
- p.Arg404Cys Single submitter distal arthrogryposis type 5D ⚠
- p.Arg404His Single submitter distal arthrogryposis type 5D ⚠
- p.Arg500Gln Single submitter Inborn genetic diseases ⚠
- p.Arg702Leu Single submitter ⚠
- p.Cys123Arg Single submitter distal arthrogryposis type 5D ⚠
- p.Gly604Arg Single submitter distal arthrogryposis type 5D ⚠
- p.Gly607Ser Single submitter distal arthrogryposis type 5D ⚠
- p.Gly623Ala Single submitter ⚠
- p.Leu165Pro Single submitter Inborn genetic diseases ⚠
- p.Met382Ile Single submitter Inborn genetic diseases ⚠
- p.Ser186Trp Single submitter distal arthrogryposis type 5D ⚠
Benign 31
- c.1407+64C>T Multiple submitters
- c.1507-116C>A Multiple submitters
- c.1507-30G>C Multiple submitters distal arthrogryposis type 5D
- c.1796+263T>C Multiple submitters
- c.1796+277G>A Multiple submitters
- c.1797-103T>G Multiple submitters
- c.1797-10G>A Multiple submitters
- c.1864+37G>C Multiple submitters
- c.1989+142A>G Multiple submitters
- c.1990-161G>C Multiple submitters
- c.2152-64G>A Multiple submitters
- c.2152-64G>T Multiple submitters
- c.2229-29A>C Multiple submitters distal arthrogryposis type 5D
- c.786+30C>T Multiple submitters
- c.787-23G>C Multiple submitters distal arthrogryposis type 5D
- c.*135C>G Multiple submitters
- p.Asn665= Multiple submitters
- p.Asp492= Multiple submitters
- p.Asp620Asn Multiple submitters ⚠
- p.His328Tyr Multiple submitters distal arthrogryposis type 5D
- p.Thr248= Multiple submitters
- c.1407+159C>A Single submitter
- c.1686-5C>T Single submitter
- c.1865-42del Single submitter
- c.1989+169G>C Single submitter
- c.2056-16CT[2] Single submitter
- c.786+291G>A Single submitter
- c.-101-272C>T Single submitter
- p.Ser240Arg Single submitter ⚠
- p.Ser256= Single submitter
- p.Ser725= Single submitter
Benign/Likely benign 7
- c.967-7C>G Multiple submitters
- p.Arg137= Multiple submitters distal arthrogryposis type 5D
- p.Arg702Gln Multiple submitters
- p.Asp142Glu Multiple submitters
- p.Glu423Gln Multiple submitters
- p.Lys552= Multiple submitters
- p.Val17= Multiple submitters
Likely benign 46
- c.1059+57G>A Multiple submitters
- c.1185-95C>T Multiple submitters
- c.1506+6G>T Multiple submitters
- c.1797-87G>A Multiple submitters
- c.1990-84T>C Multiple submitters
- c.*67A>T Multiple submitters
- p.Arg355Gln Multiple submitters Inborn genetic diseases
- p.Leu473= Multiple submitters
- p.Leu52Pro Multiple submitters
- c.1507-60dup Single submitter
- c.1744+40G>A Single submitter
- c.787-91G>A Single submitter
- c.855+20G>C Single submitter
- c.-101-180G>T Single submitter
- c.-101-186del Single submitter
- c.-101-315A>G Single submitter
- p.Ala151= Single submitter
- p.Ala378= Single submitter
- p.Arg191His Single submitter Inborn genetic diseases ⚠
- p.Arg390His Single submitter
- p.Arg652His Single submitter Inborn genetic diseases
- p.Asn630= Single submitter
- p.Asp329Glu Single submitter
- p.Gln319Arg Single submitter Inborn genetic diseases
- p.Gln483= Single submitter
- p.Ile153= Single submitter
- p.Leu164= Single submitter
- p.Leu39= Single submitter
- p.Leu682= Single submitter
- p.Lys553= Single submitter
- p.Lys722= Single submitter
- p.Met506Val Single submitter ⚠
- p.Pro513= Single submitter
- p.Pro96= Single submitter
- p.Thr351= Single submitter
- p.Tyr593= Single submitter
- p.Tyr742= Single submitter
- c.2228+4T>A No assertion criteria ECEL1-related disorder
- p.Ala493= No assertion criteria ECEL1-related disorder
- p.Ala70= No assertion criteria ECEL1-related disorder
- p.Asp619= No assertion criteria ECEL1-related disorder
- p.Leu287= No assertion criteria ECEL1-related disorder
- p.Ser628= No assertion criteria ECEL1-related disorder
- p.Thr343= No assertion criteria ECEL1-related disorder
- p.Tyr618= No assertion criteria ECEL1-related disorder
- p.Val88= No assertion criteria ECEL1-related disorder
Uncertain significance 131
- p.Arg642Gly Multiple submitters distal arthrogryposis type 5D ⚠
- p.Arg756Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly171Ala Multiple submitters distal arthrogryposis type 5D ⚠
- p.Gly209Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro34Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro567Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser44Arg Multiple submitters Inborn genetic diseases ⚠
- p.Val774Met Multiple submitters Inborn genetic diseases ⚠
- c.1185-12C>G Single submitter
- c.1865-3C>G Single submitter distal arthrogryposis type 5D
- p.Ala109Val Single submitter Inborn genetic diseases ⚠
- p.Ala175Thr Single submitter Inborn genetic diseases ⚠
- p.Ala182Thr Single submitter Inborn genetic diseases ⚠
- p.Ala223Pro Single submitter Inborn genetic diseases ⚠
- p.Ala278Thr Single submitter Inborn genetic diseases ⚠
- p.Ala305Thr Single submitter Inborn genetic diseases ⚠
- p.Ala378Val Single submitter ⚠
- p.Ala41Ser Single submitter Inborn genetic diseases ⚠
- p.Ala42Glu Single submitter Inborn genetic diseases ⚠
- p.Ala42Val Single submitter Inborn genetic diseases ⚠
- p.Ala493Thr Single submitter distal arthrogryposis type 5D ⚠
- p.Ala638Ser Single submitter Inborn genetic diseases ⚠
- p.Ala638Thr Single submitter Inborn genetic diseases ⚠
- p.Ala647Thr Single submitter Inborn genetic diseases ⚠
- p.Ala686Val Single submitter ⚠
- p.Ala769Val Single submitter Inborn genetic diseases ⚠
- p.Arg102Leu Single submitter Inborn genetic diseases ⚠
- p.Arg254Lys Single submitter Inborn genetic diseases ⚠
- p.Arg332Gln Single submitter Inborn genetic diseases ⚠
- p.Arg355Trp Single submitter Inborn genetic diseases ⚠
- p.Arg439Trp Single submitter Inborn genetic diseases ⚠
- p.Arg447His Single submitter Inborn genetic diseases ⚠
- p.Arg484Cys Single submitter distal arthrogryposis ⚠
- p.Arg484His Single submitter Inborn genetic diseases ⚠
- p.Arg544Cys Single submitter distal arthrogryposis type 5D ⚠
- p.Arg544His Single submitter Inborn genetic diseases ⚠
- p.Arg544Leu Single submitter Inborn genetic diseases ⚠
- p.Arg627Cys Single submitter Inborn genetic diseases ⚠
- p.Arg627His Single submitter Inborn genetic diseases ⚠
- p.Arg645Gln Single submitter Inborn genetic diseases ⚠
- p.Arg663Gln Single submitter Inborn genetic diseases ⚠
- p.Arg692Trp Single submitter ⚠
- p.Arg702Trp Single submitter Inborn genetic diseases ⚠
- p.Arg724Gln Single submitter Inborn genetic diseases ⚠
- p.Arg743Met Single submitter arthrogryposis multiplex congenita ⚠
- p.Asn571Ser Single submitter Inborn genetic diseases ⚠
- p.Asp253Glu Single submitter Inborn genetic diseases ⚠
- p.Asp253Gly Single submitter Inborn genetic diseases ⚠
- p.Asp330Asn Single submitter Inborn genetic diseases ⚠
- p.Asp594Glu Single submitter Inborn genetic diseases ⚠
- p.Asp619Asn Single submitter Inborn genetic diseases ⚠
- p.Asp708Gly Single submitter Inborn genetic diseases ⚠
- p.Asp763Glu Single submitter Inborn genetic diseases ⚠
- p.Cys187Arg Single submitter ⚠
- p.Cys649Gly Single submitter ⚠
- p.Cys73Trp Single submitter Inborn genetic diseases ⚠
- p.Cys760Phe Single submitter distal arthrogryposis type 5D ⚠
- p.Cys772Arg Single submitter distal arthrogryposis type 5D ⚠
- p.Gln15Pro Single submitter Inborn genetic diseases ⚠
- p.Gln318Pro Single submitter Inborn genetic diseases ⚠
- p.Gln319Lys Single submitter Inborn genetic diseases ⚠
- p.Gln599Lys Single submitter Inborn genetic diseases ⚠
- p.Glu155Lys Single submitter Inborn genetic diseases ⚠
- p.Glu159Gln Single submitter Inborn genetic diseases ⚠
- p.Glu217Lys Single submitter Inborn genetic diseases ⚠
- p.Glu317= Single submitter
- p.Glu494Lys Single submitter Inborn genetic diseases ⚠
- p.Glu753Asp Single submitter Inborn genetic diseases ⚠
- p.Gly132Ser Single submitter Inborn genetic diseases ⚠
- p.Gly154Asp Single submitter Inborn genetic diseases ⚠
- p.Gly169Glu Single submitter Inborn genetic diseases ⚠
- p.Gly197Asp Single submitter distal arthrogryposis type 5D ⚠
- p.Gly215Ser Single submitter Inborn genetic diseases ⚠
- p.Gly24Cys Single submitter Inborn genetic diseases ⚠
- p.Gly430Val Single submitter Inborn genetic diseases ⚠
- p.Gly482Asp Single submitter Inborn genetic diseases ⚠
- p.Gly604Trp Single submitter Inborn genetic diseases ⚠
- p.Gly605Ser Single submitter Inborn genetic diseases ⚠
- p.Gly617Ala Single submitter Inborn genetic diseases ⚠
- p.Gly622Ala Single submitter Inborn genetic diseases ⚠
- p.Gly622Arg Single submitter distal arthrogryposis type 5D ⚠
- p.Gly623Cys Single submitter Inborn genetic diseases ⚠
- p.Gly671Glu Single submitter distal arthrogryposis type 5D ⚠
- p.Gly679Ser Single submitter ⚠
- p.His759Pro Single submitter ⚠
- p.Ile205Val Single submitter Inborn genetic diseases ⚠
- p.Ile313Met Single submitter Inborn genetic diseases ⚠
- p.Ile313Val Single submitter Inborn genetic diseases ⚠
- p.Ile477Val Single submitter Inborn genetic diseases ⚠
- p.Leu314Met Single submitter Inborn genetic diseases ⚠
- p.Leu331Ile Single submitter Inborn genetic diseases ⚠
- p.Leu33Gln Single submitter distal arthrogryposis type 5D ⚠
- p.Leu388Arg Single submitter ⚠
- p.Leu670Pro Single submitter ⚠
- p.Leu680Arg Single submitter distal arthrogryposis type 5D ⚠
- p.Leu680Pro Single submitter Inborn genetic diseases ⚠
- p.Leu733Pro Single submitter ECEL1-related disorder ⚠
- p.Lys502Asn Single submitter distal arthrogryposis type 5D ⚠
- p.Lys667Glu Single submitter Inborn genetic diseases ⚠
- p.Lys771Glu Single submitter Inborn genetic diseases ⚠
- p.Met294Leu Single submitter Inborn genetic diseases ⚠
- p.Met338Thr Single submitter Inborn genetic diseases ⚠
- p.Met766Thr Single submitter Inborn genetic diseases ⚠
- p.Phe126Leu Single submitter Inborn genetic diseases ⚠
- p.Phe37Cys Single submitter Inborn genetic diseases ⚠
- p.Phe68Leu Single submitter Inborn genetic diseases ⚠
- p.Pro34Arg Single submitter Inborn genetic diseases ⚠
- p.Pro34Thr Single submitter Inborn genetic diseases ⚠
- p.Pro3Ser Single submitter Inborn genetic diseases ⚠
- p.Pro513Leu Single submitter distal arthrogryposis ⚠
- p.Ser256Phe Single submitter Inborn genetic diseases ⚠
- p.Ser639Phe Single submitter distal arthrogryposis type 5D ⚠
- p.Thr343Met Single submitter Inborn genetic diseases ⚠
- p.Thr46Asn Single submitter Inborn genetic diseases ⚠
- p.Thr46Pro Single submitter Inborn genetic diseases ⚠
- p.Thr669Met Single submitter Inborn genetic diseases ⚠
- p.Thr734Ser Single submitter Inborn genetic diseases ⚠
- p.Trp490Gly Single submitter Inborn genetic diseases ⚠
- p.Trp690Cys Single submitter distal arthrogryposis type 5D ⚠
- p.Tyr11Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr19His Single submitter Inborn genetic diseases ⚠
- p.Tyr400Ser Single submitter distal arthrogryposis type 5D ⚠
- p.Tyr640Phe Single submitter Inborn genetic diseases ⚠
- p.Val20Met Single submitter Inborn genetic diseases ⚠
- p.Val385Met Single submitter Inborn genetic diseases ⚠
- p.Val440Phe Single submitter Inborn genetic diseases ⚠
- p.Val558Ala Single submitter Inborn genetic diseases ⚠
- p.Val67Leu Single submitter Inborn genetic diseases ⚠
- p.Val732= Single submitter
- p.Val748Leu Single submitter Inborn genetic diseases ⚠
- p.Arg663Trp No assertion criteria ECEL1-related disorder ⚠