KEL — 122 ClinVar variants
All ClinVar germline KEL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
2 Pathogenic · 7 Benign · 14 Likely benign · 99 Uncertain significance
Full KEL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KEL p.Pro375Thr
Uncertain significance
Multiple submitters
vein of Galen aneurysm
-
KEL p.Ala311Asp
Uncertain significance
Single submitter
Vein of Galen arteriovenous malformations
- KEL p.Ala311Val Uncertain significance Single submitter
- KEL p.Ala384Thr Uncertain significance Single submitter
- KEL p.Ala423Ser Uncertain significance Single submitter
-
KEL p.Ala424Val
Uncertain significance
Single submitter
vein of Galen aneurysm
- KEL p.Ala430Asp Uncertain significance Single submitter
- KEL p.Ala430Val Uncertain significance Single submitter
- KEL p.Ala445Val Uncertain significance Single submitter
- KEL p.Ala491Gly Uncertain significance Single submitter
- KEL p.Ala645Glu Uncertain significance Single submitter
- KEL p.Ala645Ser Uncertain significance Single submitter
- KEL p.Arg180Cys Uncertain significance Single submitter
- KEL p.Arg385Leu Uncertain significance Single submitter
- KEL p.Arg393Gln Uncertain significance Single submitter
- KEL p.Arg436Gly Uncertain significance Single submitter
- KEL p.Arg447Gln Uncertain significance Single submitter
- KEL p.Arg513Gln Uncertain significance Single submitter
- KEL p.Arg86Trp Uncertain significance Single submitter
- KEL p.Asn255Ile Uncertain significance Single submitter
- KEL p.Asn461Ser Uncertain significance Single submitter
- KEL p.Asn496Ser Uncertain significance Single submitter
- KEL p.Asn540Ser Uncertain significance Single submitter
- KEL p.Asn724Ser Uncertain significance Single submitter
- KEL p.Asp315Asn Uncertain significance Single submitter
- KEL p.Asp689Tyr Uncertain significance Single submitter
- KEL p.Gln26Glu Uncertain significance Single submitter
- KEL p.Gln284His Uncertain significance Single submitter
- KEL p.Glu10Asp Uncertain significance Single submitter
- KEL p.Glu290Gln Uncertain significance Single submitter
- KEL p.Glu351Lys Uncertain significance Single submitter
- KEL p.Glu413Asp Uncertain significance Single submitter
- KEL p.Gly165Ala Uncertain significance Single submitter
- KEL p.His203Tyr Uncertain significance Single submitter
- KEL p.His219Gln Uncertain significance Single submitter
- KEL p.His219Pro Uncertain significance Single submitter
- KEL p.His657Tyr Uncertain significance Single submitter
- KEL p.His694Arg Uncertain significance Single submitter
- KEL p.Ile278Leu Uncertain significance Single submitter
- KEL p.Ile451Thr Uncertain significance Single submitter
- KEL p.Leu450Phe Uncertain significance Single submitter
- KEL p.Leu55Ser Uncertain significance Single submitter
- KEL p.Leu620Ser Uncertain significance Single submitter
- KEL p.Leu665Val Uncertain significance Single submitter
- KEL p.Lys112Glu Uncertain significance Single submitter
-
KEL p.Lys356Glu
Uncertain significance
Single submitter
Hartsfield-Bixler-Demyer syndrome
- KEL p.Lys612Arg Uncertain significance Single submitter
- KEL p.Met156Val Uncertain significance Single submitter
- KEL p.Met401Lys Uncertain significance Single submitter
- KEL p.Phe66Cys Uncertain significance Single submitter
- KEL p.Pro11Leu Uncertain significance Single submitter
- KEL p.Pro402Thr Uncertain significance Single submitter
- KEL p.Pro433Leu Uncertain significance Single submitter
- KEL p.Pro528Thr Uncertain significance Single submitter
- KEL p.Pro621Ser Uncertain significance Single submitter
- KEL p.Pro696Ser Uncertain significance Single submitter
- KEL p.Pro709Leu Uncertain significance Single submitter
- KEL p.Pro99His Uncertain significance Single submitter
- KEL p.Ser138Thr Uncertain significance Single submitter
- KEL p.Ser138Tyr Uncertain significance Single submitter
- KEL p.Ser199Asn Uncertain significance Single submitter
- KEL p.Ser437Asn Uncertain significance Single submitter
- KEL p.Ser577Asn Uncertain significance Single submitter
- KEL p.Ser650Cys Uncertain significance Single submitter
- KEL p.Ser727Gly Uncertain significance Single submitter
- KEL p.Thr158Ala Uncertain significance Single submitter
- KEL p.Thr252Ser Uncertain significance Single submitter
- KEL p.Thr372Asn Uncertain significance Single submitter
- KEL p.Thr421Met Uncertain significance Single submitter
- KEL p.Thr464Ala Uncertain significance Single submitter
- KEL p.Thr50Ile Uncertain significance Single submitter
- KEL p.Trp407Arg Uncertain significance Single submitter
- KEL p.Tyr588His Uncertain significance Single submitter
- KEL p.Tyr714Phe Uncertain significance Single submitter
- KEL p.Val411Met Uncertain significance Single submitter
- KEL p.Val477Leu Uncertain significance Single submitter
- KEL p.Val534Met Uncertain significance Single submitter
- KEL p.Val545Leu Uncertain significance Single submitter
-
KEL p.Leu196Val
Uncertain significance
No assertion criteria
Kell blood group system
Predictors split 19
The independent predictors disagree with each other — read with care.
- KEL p.Ala148Gly Uncertain significance Single submitter
- KEL p.Ala449Asp Uncertain significance Single submitter
- KEL p.Ala574Thr Uncertain significance Single submitter
- KEL p.Ala648Thr Uncertain significance Single submitter
- KEL p.Arg47Pro Uncertain significance Single submitter
- KEL p.Arg716Cys Uncertain significance Single submitter
- KEL p.Arg728Cys Uncertain significance Single submitter
- KEL p.Arg728Leu Uncertain significance Single submitter
- KEL p.Asn571Ser Uncertain significance Single submitter
- KEL p.Gly595Val Uncertain significance Single submitter
- KEL p.His581Gln Uncertain significance Single submitter
- KEL p.Ile161Thr Uncertain significance Single submitter
- KEL p.Leu442Val Uncertain significance Single submitter
- KEL p.Phe504Leu Uncertain significance Single submitter
- KEL p.Pro669Thr Uncertain significance Single submitter
- KEL p.Ser706Arg Uncertain significance Single submitter
- KEL p.Val48Glu Uncertain significance Single submitter
- KEL p.Val701Ala Uncertain significance Single submitter
- KEL p.Pro326Gln Uncertain significance No assertion criteria
All KEL variants
Pathogenic 2
- c.400+1G>A Single submitter Kell blood group system
- c.223+1G>C No assertion criteria KELL-NULL PHENOTYPE
Benign 7
- p.Arg516= Multiple submitters
- p.Leu597Pro Multiple submitters
- p.Phe324= Multiple submitters
- p.Thr193Met Single submitter
- c.1593-4A>T No assertion criteria KEL-related disorder
- p.Leu633= No assertion criteria KEL-related disorder
- p.Pro560= No assertion criteria KEL-related disorder
Likely benign 14
- p.Leu335= Multiple submitters
- c.1204-4A>G Single submitter
- p.Arg404His Single submitter
- p.Arg436Gln Single submitter
- p.Glu383Lys Single submitter
- p.Gly56Ser Single submitter
- p.His702= Single submitter
- p.Met301Val Single submitter
- p.Val336Met Single submitter
- p.Val539Ile Single submitter
- c.1703+5G>A No assertion criteria KEL-related disorder
- c.736-10C>T No assertion criteria KEL-related disorder
- p.Glu494Val No assertion criteria KEL-related disorder
- p.Thr421= No assertion criteria KEL-related disorder
Uncertain significance 99
- p.Pro375Thr Multiple submitters vein of Galen aneurysm ⚠
- p.Ala148Gly Single submitter ⚠
- p.Ala311Asp Single submitter Vein of Galen arteriovenous malformations ⚠
- p.Ala311Val Single submitter ⚠
- p.Ala384Thr Single submitter ⚠
- p.Ala423Ser Single submitter ⚠
- p.Ala424Val Single submitter vein of Galen aneurysm ⚠
- p.Ala430Asp Single submitter ⚠
- p.Ala430Val Single submitter ⚠
- p.Ala445Val Single submitter ⚠
- p.Ala449Asp Single submitter ⚠
- p.Ala491Gly Single submitter ⚠
- p.Ala574Thr Single submitter ⚠
- p.Ala645Glu Single submitter ⚠
- p.Ala645Ser Single submitter ⚠
- p.Ala648Thr Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg385Leu Single submitter ⚠
- p.Arg393Gln Single submitter ⚠
- p.Arg436Gly Single submitter ⚠
- p.Arg447Gln Single submitter ⚠
- p.Arg47Pro Single submitter ⚠
- p.Arg513Gln Single submitter ⚠
- p.Arg716Cys Single submitter ⚠
- p.Arg728Cys Single submitter ⚠
- p.Arg728Leu Single submitter ⚠
- p.Arg86Trp Single submitter ⚠
- p.Asn255Ile Single submitter ⚠
- p.Asn461Ser Single submitter ⚠
- p.Asn496Ser Single submitter ⚠
- p.Asn540Ser Single submitter ⚠
- p.Asn571Ser Single submitter ⚠
- p.Asn724Ser Single submitter ⚠
- p.Asp315Asn Single submitter ⚠
- p.Asp689Tyr Single submitter ⚠
- p.Gln26Glu Single submitter ⚠
- p.Gln284His Single submitter ⚠
- p.Glu10Asp Single submitter ⚠
- p.Glu290Gln Single submitter ⚠
- p.Glu351Lys Single submitter ⚠
- p.Glu413Asp Single submitter ⚠
- p.Gly165Ala Single submitter ⚠
- p.Gly595Val Single submitter ⚠
- p.His203Tyr Single submitter ⚠
- p.His219Gln Single submitter ⚠
- p.His219Pro Single submitter ⚠
- p.His581Gln Single submitter ⚠
- p.His657Tyr Single submitter ⚠
- p.His694Arg Single submitter ⚠
- p.Ile161Thr Single submitter ⚠
- p.Ile278Leu Single submitter ⚠
- p.Ile451Thr Single submitter ⚠
- p.Leu442Val Single submitter ⚠
- p.Leu450Phe Single submitter ⚠
- p.Leu55Ser Single submitter ⚠
- p.Leu620Ser Single submitter ⚠
- p.Leu665Val Single submitter ⚠
- p.Lys112Glu Single submitter ⚠
- p.Lys356Glu Single submitter Hartsfield-Bixler-Demyer syndrome ⚠
- p.Lys612Arg Single submitter ⚠
- p.Met156Val Single submitter ⚠
- p.Met401Lys Single submitter ⚠
- p.Phe504Leu Single submitter ⚠
- p.Phe66Cys Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro402Thr Single submitter ⚠
- p.Pro433Leu Single submitter ⚠
- p.Pro528Thr Single submitter ⚠
- p.Pro621Ser Single submitter ⚠
- p.Pro669Thr Single submitter ⚠
- p.Pro696Ser Single submitter ⚠
- p.Pro709Leu Single submitter ⚠
- p.Pro99His Single submitter ⚠
- p.Ser138Thr Single submitter ⚠
- p.Ser138Tyr Single submitter ⚠
- p.Ser199Asn Single submitter ⚠
- p.Ser437Asn Single submitter ⚠
- p.Ser544Ter Single submitter vein of Galen aneurysm
- p.Ser577Asn Single submitter ⚠
- p.Ser650Cys Single submitter ⚠
- p.Ser706Arg Single submitter ⚠
- p.Ser727Gly Single submitter ⚠
- p.Thr158Ala Single submitter ⚠
- p.Thr252Ser Single submitter ⚠
- p.Thr372Asn Single submitter ⚠
- p.Thr421Met Single submitter ⚠
- p.Thr464Ala Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Trp407Arg Single submitter ⚠
- p.Tyr588His Single submitter ⚠
- p.Tyr714Phe Single submitter ⚠
- p.Val411Met Single submitter ⚠
- p.Val477Leu Single submitter ⚠
- p.Val48Glu Single submitter ⚠
- p.Val534Met Single submitter ⚠
- p.Val545Leu Single submitter ⚠
- p.Val701Ala Single submitter ⚠
- p.Leu196Val No assertion criteria Kell blood group system ⚠
- p.Pro326Gln No assertion criteria ⚠