CRELD1 — 220 ClinVar variants
All ClinVar germline CRELD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →
11 Pathogenic · 4 Likely pathogenic · 10 Conflicting · 23 Benign · 7 Benign/Likely benign · 48 Likely benign · 117 Uncertain significance
Full CRELD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 100
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.
-
CRELD1 p.Gly196Val
Pathogenic
No assertion criteria
ventricular septal defect 1
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CRELD1 p.Arg107His
Conflicting
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Arg220Gln
Conflicting
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Cys192Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
CRELD1 p.Cys262Arg
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CRELD1 p.Cys221Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRELD1 p.Cys292Arg
Uncertain significance
Multiple submitters
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Gly164Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRELD1 p.Gly167Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRELD1 p.Gly283Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRELD1 p.Pro286Arg
Uncertain significance
Multiple submitters
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Ser212Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRELD1 p.Ala145Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CRELD1 p.Ala352Val Uncertain significance Single submitter
- CRELD1 p.Arg329Pro Uncertain significance Single submitter
-
CRELD1 p.Arg420Lys
Uncertain significance
Single submitter
congenital heart disease
-
CRELD1 p.Arg89Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Arg89His
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
- CRELD1 p.Asn323Lys Uncertain significance Single submitter
-
CRELD1 p.Asp305Asn
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
- CRELD1 p.Cys105Tyr Uncertain significance Single submitter
- CRELD1 p.Cys218Tyr Uncertain significance Single submitter
- CRELD1 p.Cys281Ser Uncertain significance Single submitter
-
CRELD1 p.Cys343Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CRELD1 p.Cys46Gly Uncertain significance Single submitter
- CRELD1 p.Glu248Lys Uncertain significance Single submitter
-
CRELD1 p.Glu334Lys
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
- CRELD1 p.Glu357Asp Uncertain significance Single submitter
-
CRELD1 p.Glu414Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Gly149Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CRELD1 p.Gly267Ala Uncertain significance Single submitter
- CRELD1 p.Gly283Ala Uncertain significance Single submitter
- CRELD1 p.Gly326Ser Uncertain significance Single submitter
-
CRELD1 p.Gly327Ser
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Gly71Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Ile27Ser
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Ile348Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Ile394Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Ile394Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CRELD1 p.Leu304Pro Uncertain significance Single submitter
-
CRELD1 p.Leu366Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Lys242Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Lys242Asn
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
- CRELD1 p.Lys345Gln Uncertain significance Single submitter
-
CRELD1 p.Phe393Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Phe56Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CRELD1 p.Phe68Ser Uncertain significance Single submitter
-
CRELD1 p.Pro154Ser
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Pro3Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Pro5Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Ser136Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Trp133Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Trp28Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CRELD1 p.Trp28Gly Uncertain significance Single submitter
-
CRELD1 p.Tyr269Cys
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
- CRELD1 p.Tyr328Cys Uncertain significance Single submitter
-
CRELD1 p.Val313Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Gly179Arg
Uncertain significance
No assertion criteria
CRELD1-related disorder
Predictors split 42
The independent predictors disagree with each other — read with care.
-
CRELD1 p.Ala206Thr
Benign/Likely benign
Multiple submitters
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Arg107Cys
Uncertain significance
Multiple submitters
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Arg175Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRELD1 p.Arg329Cys
Likely benign
Multiple submitters
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Asn72Ser
Uncertain significance
Multiple submitters
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Glu78Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRELD1 p.Gly188Arg
Uncertain significance
Multiple submitters
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Lys418Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRELD1 p.Pro128Arg
Benign
Multiple submitters
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Pro40Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRELD1 p.Ser32Phe
Uncertain significance
Multiple submitters
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Ala398Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Arg204His
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Arg408Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Asn205Asp
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
- CRELD1 p.Asp259Glu Uncertain significance Single submitter
-
CRELD1 p.Asp386Asn
Conflicting
Single submitter
Inborn genetic diseases
-
CRELD1 p.Glu104Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CRELD1 p.Glu325Lys Uncertain significance Single submitter
-
CRELD1 p.Glu346Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Glu362Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Glu78Asp
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Gly157Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Gly158Glu
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Gly16Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Gly189Ser
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Gly96Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Ile246Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Lys233Asn
Conflicting
Single submitter
Inborn genetic diseases
-
CRELD1 p.Lys302Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Met282Ile
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Met369Val
Uncertain significance
Single submitter
Jeffries-Lakhani neurodevelopmental syndrome
-
CRELD1 p.Phe389Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CRELD1 p.Phe416Leu Uncertain significance Single submitter
-
CRELD1 p.Pro144Ala
Uncertain significance
Single submitter
atrioventricular septal defect, susceptibility to, 2
-
CRELD1 p.Pro144Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Pro39Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Pro40Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRELD1 p.Thr380Met
Uncertain significance
Single submitter
Jeffries-Lakhani neurodevelopmental syndrome
-
CRELD1 p.Arg288Leu
Pathogenic
No assertion criteria
congenital heart defects, multiple types, 4
-
CRELD1 p.Leu115Met
Uncertain significance
No assertion criteria
CRELD1-related disorder
-
CRELD1 p.Ser112Ile
Uncertain significance
No assertion criteria
CRELD1-related disorder
All CRELD1 variants
Pathogenic 11
- c.1048+417_1048+418del Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Arg175Ter Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Asp66fs Single submitter
- p.Asp85fs Single submitter
- p.Glu225fs Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Ile64fs Single submitter Jeffries-Lakhani neurodevelopmental syndrome
- p.Trp133Ter Single submitter
- c.1049-401C>A No assertion criteria ventricular septal defect 1
- p.Arg288Leu No assertion criteria congenital heart defects, multiple types, 4 ⚠
- p.Gly196Val No assertion criteria ventricular septal defect 1 ⚠
- p.Trp75Arg No assertion criteria congenital heart defects, multiple types, 4
Likely pathogenic 4
- c.460+1G>A Multiple submitters Inborn genetic diseases
- c.913+1G>A Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Ala275fs Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Cys321fs Single submitter
Conflicting classifications of pathogenicity 10
- p.Arg107His Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Arg220Gln Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Arg220Ter Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Asp386Asn Single submitter Inborn genetic diseases ⚠
- p.Cys192Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys262Arg Single submitter Inborn genetic diseases ⚠
- p.Gln320fs Single submitter Jeffries-Lakhani neurodevelopmental syndrome
- p.Glu266fs Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Gly189fs Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Lys233Asn Single submitter Inborn genetic diseases ⚠
Benign 23
- c.1048+258T>C Multiple submitters
- c.1049-376T>C Multiple submitters atrioventricular septal defect, susceptibility to, 2
- c.1049-393C>T Multiple submitters atrioventricular septal defect, susceptibility to, 2
- c.257+263C>T Multiple submitters
- c.369-39A>G Multiple submitters
- c.461-89A>G Multiple submitters
- c.-19-244T>C Multiple submitters
- c.-19-86G>T Multiple submitters
- p.Gln368= Multiple submitters
- p.Leu304= Multiple submitters atrioventricular septal defect, susceptibility to, 2
- p.Met13= Multiple submitters atrioventricular septal defect, susceptibility to, 2
- p.Met13Val Multiple submitters atrioventricular septal defect, susceptibility to, 2
- p.Pro128Arg Multiple submitters atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Pro315= Multiple submitters atrioventricular septal defect, susceptibility to, 2
- c.1048+14C>T Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-270C>T Single submitter atrioventricular septal defect, susceptibility to, 2
- c.257+10T>G Single submitter atrioventricular septal defect, susceptibility to, 2
- c.461-217A>G Single submitter
- c.461-88AGGGAG[6] Single submitter
- c.637+20G>A Single submitter atrioventricular septal defect, susceptibility to, 2
- c.733+16G>A Single submitter atrioventricular septal defect, susceptibility to, 2
- c.-52C>T Single submitter
- p.Gly326= Single submitter atrioventricular septal defect, susceptibility to, 2
Benign/Likely benign 7
- c.1049-299C>G Multiple submitters atrioventricular septal defect, susceptibility to, 2
- c.1049-352C>T Multiple submitters atrioventricular septal defect, susceptibility to, 2
- c.258-13C>A Multiple submitters atrioventricular septal defect, susceptibility to, 2
- p.Ala206Thr Multiple submitters atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Ile417Val Multiple submitters
- p.Pro31= Multiple submitters atrioventricular septal defect, susceptibility to, 2
- p.Tyr166= Multiple submitters atrioventricular septal defect, susceptibility to, 2
Likely benign 48
- c.1049-316T>C Multiple submitters
- c.369-3C>T Multiple submitters atrioventricular septal defect, susceptibility to, 2
- p.Arg329Cys Multiple submitters atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Glu308= Multiple submitters atrioventricular septal defect, susceptibility to, 2
- p.Glu340Lys Multiple submitters atrioventricular septal defect, susceptibility to, 2
- p.Thr311Ile Multiple submitters atrioventricular septal defect, susceptibility to, 2
- p.Thr88= Multiple submitters atrioventricular septal defect, susceptibility to, 2
- c.1048+15G>A Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1048+369T>C Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1048+380G>A Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1048+388T>G Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-259C>G Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-282G>C Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-317C>T Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-324C>T Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-405T>G Single submitter atrioventricular septal defect, susceptibility to, 2
- c.174+11C>T Single submitter atrioventricular septal defect, susceptibility to, 2
- c.175-18C>T Single submitter atrioventricular septal defect, susceptibility to, 2
- c.175-19A>G Single submitter atrioventricular septal defect, susceptibility to, 2
- c.257+14G>T Single submitter atrioventricular septal defect, susceptibility to, 2
- c.258-6G>A Single submitter
- c.258-7C>T Single submitter atrioventricular septal defect, susceptibility to, 2
- c.368+7G>A Single submitter atrioventricular septal defect, susceptibility to, 2
- c.733+9G>A Single submitter atrioventricular septal defect, susceptibility to, 2
- c.914-9C>T Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Ala185= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Ala398= Single submitter
- p.Ala74= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Asn22= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Cys152= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Cys163= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Glu104= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Glu248= Single submitter
- p.Gly96= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Leu130= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Leu238= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Lys276= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Lys337= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Phe103= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Phe200= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Pro11= Single submitter
- p.Pro144= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Ser212= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Ser222= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Ser406= Single submitter
- p.Thr147= Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Tyr187= Single submitter
- p.Glu360= No assertion criteria CRELD1-related disorder
Uncertain significance 117
- c.1049-283C>T Multiple submitters atrioventricular septal defect, susceptibility to, 2
- c.1049-289G>A Multiple submitters atrioventricular septal defect, susceptibility to, 2
- c.1049-376T>G Multiple submitters tetralogy of fallot
- c.1049-401C>T Multiple submitters atrioventricular septal defect, susceptibility to, 2
- p.Arg107Cys Multiple submitters atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Arg175Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn72Ser Multiple submitters atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Cys221Arg Multiple submitters Inborn genetic diseases ⚠
- p.Cys292Arg Multiple submitters atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Glu78Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly164Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly167Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly188Arg Multiple submitters atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Gly283Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys418Glu Multiple submitters Inborn genetic diseases ⚠
- p.Pro286Arg Multiple submitters atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Pro40Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser212Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser32Phe Multiple submitters atrioventricular septal defect, susceptibility to, 2 ⚠
- c.1049-323G>A Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-346del Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-364G>C Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-368C>G Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-389A>G Single submitter atrioventricular septal defect, susceptibility to, 2
- c.1049-418G>A Single submitter atrioventricular septal defect, susceptibility to, 2
- c.174+5G>A Single submitter
- c.257+1G>A Single submitter
- c.733+2T>A Single submitter
- c.817+4A>G Single submitter atrioventricular septal defect, susceptibility to, 2
- c.913+5G>A Single submitter
- c.913+84G>A Single submitter atrioventricular septal defect, susceptibility to, 2
- c.914-2A>C Single submitter
- c.*184G>A Single submitter
- c.*5G>A Single submitter
- p.Ala145Thr Single submitter Inborn genetic diseases ⚠
- p.Ala352Val Single submitter ⚠
- p.Ala377fs Single submitter Jeffries-Lakhani neurodevelopmental syndrome
- p.Ala398Val Single submitter Inborn genetic diseases ⚠
- p.Arg204His Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Arg329Pro Single submitter ⚠
- p.Arg408Cys Single submitter Inborn genetic diseases ⚠
- p.Arg420Lys Single submitter congenital heart disease ⚠
- p.Arg89Cys Single submitter Inborn genetic diseases ⚠
- p.Arg89His Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Asn205Asp Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Asn323Lys Single submitter ⚠
- p.Asp259Glu Single submitter ⚠
- p.Asp305Asn Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Cys105Tyr Single submitter ⚠
- p.Cys218Tyr Single submitter ⚠
- p.Cys281Ser Single submitter ⚠
- p.Cys343Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys46Gly Single submitter ⚠
- p.Glu104Lys Single submitter Inborn genetic diseases ⚠
- p.Glu248Lys Single submitter ⚠
- p.Glu312fs Single submitter atrioventricular septal defect, susceptibility to, 2
- p.Glu325Lys Single submitter ⚠
- p.Glu334Lys Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Glu346Gly Single submitter Inborn genetic diseases ⚠
- p.Glu357Asp Single submitter ⚠
- p.Glu362Lys Single submitter Inborn genetic diseases ⚠
- p.Glu414Asp Single submitter Inborn genetic diseases ⚠
- p.Glu78Asp Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Gly149Arg Single submitter Inborn genetic diseases ⚠
- p.Gly157Glu Single submitter Inborn genetic diseases ⚠
- p.Gly158Glu Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Gly16Asp Single submitter Inborn genetic diseases ⚠
- p.Gly189Ser Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Gly267Ala Single submitter ⚠
- p.Gly283Ala Single submitter ⚠
- p.Gly326Ser Single submitter ⚠
- p.Gly327Ser Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Gly71Glu Single submitter Inborn genetic diseases ⚠
- p.Gly96Asp Single submitter Inborn genetic diseases ⚠
- p.Ile246Met Single submitter Inborn genetic diseases ⚠
- p.Ile27Ser Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Ile348Leu Single submitter Inborn genetic diseases ⚠
- p.Ile394Met Single submitter Inborn genetic diseases ⚠
- p.Ile394Thr Single submitter Inborn genetic diseases ⚠
- p.Ile417del Single submitter
- p.Leu304Pro Single submitter ⚠
- p.Leu366Gln Single submitter Inborn genetic diseases ⚠
- p.Lys242Arg Single submitter Inborn genetic diseases ⚠
- p.Lys242Asn Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Lys302Asn Single submitter Inborn genetic diseases ⚠
- p.Lys345Gln Single submitter ⚠
- p.Met282Ile Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Met369Val Single submitter Jeffries-Lakhani neurodevelopmental syndrome ⚠
- p.Phe389Ile Single submitter Inborn genetic diseases ⚠
- p.Phe393Ser Single submitter Inborn genetic diseases ⚠
- p.Phe416Leu Single submitter ⚠
- p.Phe56Val Single submitter Inborn genetic diseases ⚠
- p.Phe68Ser Single submitter ⚠
- p.Pro144Ala Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Pro144Ser Single submitter Inborn genetic diseases ⚠
- p.Pro154Ser Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Pro39Ser Single submitter Inborn genetic diseases ⚠
- p.Pro3Leu Single submitter Inborn genetic diseases ⚠
- p.Pro40Leu Single submitter Inborn genetic diseases ⚠
- p.Pro5Thr Single submitter Inborn genetic diseases ⚠
- p.Ser136Leu Single submitter Inborn genetic diseases ⚠
- p.Thr324= Single submitter
- p.Thr380Met Single submitter Jeffries-Lakhani neurodevelopmental syndrome ⚠
- p.Trp119Ter Single submitter
- p.Trp133Cys Single submitter Inborn genetic diseases ⚠
- p.Trp28Cys Single submitter Inborn genetic diseases ⚠
- p.Trp28Gly Single submitter ⚠
- p.Trp4Ter Single submitter
- p.Tyr269Cys Single submitter atrioventricular septal defect, susceptibility to, 2 ⚠
- p.Tyr328Cys Single submitter ⚠
- p.Val313Ala Single submitter Inborn genetic diseases ⚠
- p.Val365del Single submitter
- c.1049-343G>C No assertion criteria CRELD1-related disorder
- c.1049-419C>A No assertion criteria CRELD1-related disorder
- p.Gly179Arg No assertion criteria CRELD1-related disorder ⚠
- p.Leu115Met No assertion criteria CRELD1-related disorder ⚠
- p.Ser112Ile No assertion criteria CRELD1-related disorder ⚠