Sugi Variant

Sugi Variant/ELANE

ELANE — 814 ClinVar variants

All ClinVar germline ELANE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 399 flagged for review →

45 Pathogenic · 9 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 58 Conflicting · 33 Benign · 20 Benign/Likely benign · 201 Likely benign · 395 Uncertain significance

Full ELANE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 399

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 24

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 194

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 194

Predictors split 178

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 178

All ELANE variants

Pathogenic 45

  • c.597+1G>A Multiple submitters cyclic hematopoiesis
  • c.597+1G>C Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • c.597+5G>A Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Ala57Thr Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys151Tyr Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys223Ter Multiple submitters cyclic hematopoiesis
  • p.Gly203Arg Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly214Arg Multiple submitters cyclic hematopoiesis
  • p.Leu47Pro Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Met1Val Multiple submitters cyclic hematopoiesis
  • p.Ser126Leu Multiple submitters cyclic hematopoiesis ⚠
  • p.Ser46Phe Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • c.367-8C>A Single submitter cyclic hematopoiesis
  • c.597+1G>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.597+5del Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.597+5G>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.600_601dupGG Single submitter
  • p.Ala100_Val101insGlnValPheAla Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Arg103Pro Single submitter cyclic hematopoiesis
  • p.Arg182fs Single submitter
  • p.Asn113_Ile120del Single submitter
  • p.Asp230fs Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys151Phe Single submitter
  • p.Cys151Ser Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys187Ter Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys55Ser Single submitter
  • p.Cys55Tyr Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly192fs Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly85Arg Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.His213fs Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Ile60Thr Single submitter
  • p.Leu180fs Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Met154Arg Single submitter cyclic hematopoiesis
  • p.Met66Arg Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Pro139Arg Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Ser46Pro Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Trp241Ter Single submitter cyclic hematopoiesis
  • p.Val101Met Single submitter cyclic hematopoiesis
  • p.Ala127Asp No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Ala57Asp No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys71Arg No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly210Trp No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Leu227fs No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Tyr228Ter No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Val101Gly No assertion criteria neutropenia, severe congenital, 1, autosomal dominant

Pathogenic/Likely pathogenic 9

  • p.Ala57Val Multiple submitters
  • p.Ala61Val Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg220Gln Multiple submitters neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Arg81Pro Multiple submitters cyclic hematopoiesis
  • p.Cys71Phe Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Leu84Pro Multiple submitters ELANE-related disorder
  • p.Met1Ile Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Met1Thr Multiple submitters
  • p.Pro139Leu Multiple submitters cyclic hematopoiesis

Likely pathogenic 53

  • p.Arg103Leu Multiple submitters ELANE-related disorder ⚠
  • p.Val190= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • c.367-1G>A Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.367-1G>C Single submitter cyclic hematopoiesis
  • p.Ala153Asp Single submitter cyclic hematopoiesis
  • p.Ala153Pro Single submitter
  • p.Ala195fs Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Arg220Trp Single submitter cyclic hematopoiesis ⚠
  • p.Arg6Ter Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Asp201fs Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys208Gly Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys55Arg Single submitter cyclic hematopoiesis
  • p.Gln102Pro Single submitter
  • p.Gln97Pro Single submitter
  • p.Gly200fs Single submitter cyclic hematopoiesis
  • p.Gly203Ser Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly214Glu Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly214Val Single submitter
  • p.Gly221Ter Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly85Glu Single submitter
  • p.His53Arg Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.His53Asp Single submitter ELANE-related disorder
  • p.His53Gln Single submitter autoinflammatory syndrome
  • p.His53Leu Single submitter
  • p.His53Tyr Single submitter
  • p.Ile30Met Single submitter ⚠
  • p.Leu121Arg Single submitter cyclic hematopoiesis
  • p.Leu138Gln Single submitter neutropenia
  • p.Leu206Phe Single submitter cyclic hematopoiesis
  • p.Leu59Arg Single submitter
  • p.Phe43Leu Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Pro205Arg Single submitter
  • p.Ser202Phe Single submitter
  • p.Ser225Ter Single submitter autosomal dominant severe congenital neutropenia
  • p.Ser244fs Single submitter cyclic hematopoiesis
  • p.Ser46_Leu47del Single submitter
  • p.Ser46Tyr Single submitter
  • p.Trp241Cys Single submitter
  • p.Val31fs Single submitter autoinflammatory syndrome
  • p.Val45Leu Single submitter ELANE-related disorder
  • p.Val65Asp Single submitter
  • c.224+2_224+12del No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Ala153_Leu158del No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Ala69_Asn74del No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Arg143_Gly146del No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys223fs No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys71Trp No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly192_Gly196del No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly214fs No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Met1Leu No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Met66Lys No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Trp156_Gly157del No assertion criteria neutropenia, severe congenital, 1, autosomal dominant
  • p.Val197fs No assertion criteria ELANE-related disorder

Conflicting classifications of pathogenicity 58

  • c.366+7C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.366+9G>A Single submitter cyclic hematopoiesis
  • c.367-10_367-9dup Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.597+3A>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.598-1G>A Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.598-8C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.68-13G>A Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Ala166= Single submitter autoinflammatory syndrome
  • p.Ala166Thr Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Ala73Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala79Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala79Val Single submitter Inborn genetic diseases ⚠
  • p.Ala8Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala8Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala8Val Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Arg143Cys Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Arg143His Single submitter autoinflammatory syndrome ⚠
  • p.Arg144His Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Arg193Gln Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Arg248Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg258Gln Single submitter cyclic hematopoiesis ⚠
  • p.Arg35Gln Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Arg37Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn116Ser Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Asn173Ser Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Asn185= Single submitter autoinflammatory syndrome
  • p.Asn252= Single submitter autoinflammatory syndrome
  • p.Asn88Asp Single submitter cyclic hematopoiesis ⚠
  • p.Asp230Asn Single submitter Inborn genetic diseases ⚠
  • p.Gln122Ter Single submitter cyclic hematopoiesis
  • p.Gly164Arg Single submitter autoinflammatory syndrome ⚠
  • p.Gly210Arg Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Gly221Val Single submitter cyclic hematopoiesis ⚠
  • p.Gly33fs Single submitter cyclic hematopoiesis
  • p.His213Gln Single submitter cyclic hematopoiesis ⚠
  • p.His256= Single submitter Inborn genetic diseases
  • p.His87_Ser90dup Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Leu123Pro Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Leu158Val Single submitter cyclic hematopoiesis ⚠
  • p.Leu159Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu7Phe Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Leu89Phe Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Pro111= Single submitter cyclic hematopoiesis
  • p.Pro260Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro260Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro260Thr Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Ser126Trp Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Ser264Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser90Pro Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Thr175Met Single submitter autoinflammatory syndrome ⚠
  • p.Thr178Met Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Thr24Pro Single submitter Inborn genetic diseases ⚠
  • p.Tyr109= Single submitter Inborn genetic diseases
  • p.Val168Ile Single submitter Inborn genetic diseases ⚠
  • p.Val186= Single submitter
  • p.Val190Met Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Val197Ile Single submitter neutropenia, severe congenital, 1, autosomal dominant ⚠
  • p.Val31= Single submitter autoinflammatory syndrome

Benign 33

Benign/Likely benign 20

  • c.366+12C>A Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • c.367-8C>T Multiple submitters cyclic hematopoiesis
  • c.68-19G>A Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Ala57= Multiple submitters Inborn genetic diseases
  • p.Ala68= Multiple submitters Inborn genetic diseases
  • p.Asn124= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Asn132= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Asn209= Multiple submitters Inborn genetic diseases
  • p.Gly33= Multiple submitters cyclic hematopoiesis
  • p.Leu21= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Leu7= Multiple submitters cyclic hematopoiesis
  • p.Phe218= Multiple submitters cyclic hematopoiesis
  • p.Pro257Leu Multiple submitters cyclic hematopoiesis ⚠
  • p.Pro262Leu Multiple submitters cyclic hematopoiesis ⚠
  • p.Pro42= Multiple submitters cyclic hematopoiesis
  • p.Ser249Phe Multiple submitters cyclic hematopoiesis ⚠
  • p.Ser67= Multiple submitters Inborn genetic diseases
  • p.Thr58= Multiple submitters Inborn genetic diseases
  • p.Val101= Multiple submitters Inborn genetic diseases
  • p.Val219Ile Multiple submitters cyclic hematopoiesis ⚠

Likely benign 201

  • c.597+10C>G Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • c.597+20C>T Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Ala100= Multiple submitters Inborn genetic diseases
  • p.Ala127Val Multiple submitters cyclic hematopoiesis ⚠
  • p.Ala140= Multiple submitters Inborn genetic diseases
  • p.Ala195= Multiple submitters cyclic hematopoiesis
  • p.Ala216= Multiple submitters Inborn genetic diseases
  • p.Ala231= Multiple submitters cyclic hematopoiesis
  • p.Ala27= Multiple submitters Inborn genetic diseases
  • p.Ala36= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Ala73= Multiple submitters cyclic hematopoiesis
  • p.Ala79= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Ala8= Multiple submitters Inborn genetic diseases
  • p.Arg191= Multiple submitters Inborn genetic diseases
  • p.Arg34= Multiple submitters cyclic hematopoiesis
  • p.Arg81= Multiple submitters Inborn genetic diseases
  • p.Asn107= Multiple submitters cyclic hematopoiesis
  • p.Asn147= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Asn173= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys151= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys208= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Cys223= Multiple submitters Inborn genetic diseases
  • p.Cys55= Multiple submitters Inborn genetic diseases
  • p.Cys71= Multiple submitters Inborn genetic diseases
  • p.Gln150= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Gln237= Multiple submitters cyclic hematopoiesis
  • p.Gly125= Multiple submitters cyclic hematopoiesis
  • p.Gly164= Multiple submitters cyclic hematopoiesis
  • p.Gly200= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly32= Multiple submitters Inborn genetic diseases
  • p.Gly56= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.His213= Multiple submitters Inborn genetic diseases
  • p.His39= Multiple submitters Inborn genetic diseases
  • p.His87= Multiple submitters Inborn genetic diseases
  • p.Ile118= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Ile165= Multiple submitters Inborn genetic diseases
  • p.Leu115= Multiple submitters Inborn genetic diseases
  • p.Leu121= Multiple submitters cyclic hematopoiesis
  • p.Leu145= Multiple submitters Inborn genetic diseases
  • p.Leu152= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Leu172= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Leu180= Multiple submitters cyclic hematopoiesis
  • p.Leu211= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Leu3= Multiple submitters cyclic hematopoiesis
  • p.Phe105= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Pro139= Multiple submitters cyclic hematopoiesis
  • p.Pro253= Multiple submitters Inborn genetic diseases
  • p.Pro260= Multiple submitters Inborn genetic diseases
  • p.Pro262Ser Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Ser126= Multiple submitters Inborn genetic diseases
  • p.Ser167= Multiple submitters cyclic hematopoiesis
  • p.Ser179= Multiple submitters Inborn genetic diseases
  • p.Ser249= Multiple submitters Inborn genetic diseases
  • p.Ser90= Multiple submitters Inborn genetic diseases
  • p.Thr175= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Thr178= Multiple submitters Inborn genetic diseases
  • p.Thr188= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Thr266= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Val112= Multiple submitters neutropenia, severe congenital, 1, autosomal dominant
  • p.Val15= Multiple submitters Inborn genetic diseases
  • c.224+10C>A Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.224+10C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.224+11G>A Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.224+9C>G Single submitter cyclic hematopoiesis
  • c.224+9C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.225-16T>C Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.225-17C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.225-19G>A Single submitter cyclic hematopoiesis
  • c.225-20C>G Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.225-4G>A Single submitter cyclic hematopoiesis
  • c.225-6C>G Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.225-6C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.225-8C>G Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.225-8C>T Single submitter cyclic hematopoiesis
  • c.366+12C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.366+13G>C Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.366+17_366+21del Single submitter cyclic hematopoiesis
  • c.366+18G>A Single submitter cyclic hematopoiesis
  • c.366+18G>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.366+192G>T Single submitter
  • c.366+19G>T Single submitter cyclic hematopoiesis
  • c.366+299G>T Single submitter
  • c.366+8C>T Single submitter cyclic hematopoiesis
  • c.367-11C>T Single submitter cyclic hematopoiesis
  • c.367-12C>T Single submitter cyclic hematopoiesis
  • c.367-13C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.367-16G>A Single submitter
  • c.367-18C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.367-19T>C Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.367-7G>A Single submitter cyclic hematopoiesis
  • c.597+10C>A Single submitter cyclic hematopoiesis
  • c.597+13G>A Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.597+14G>A Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.597+17T>G Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.597+19C>G Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.598-17del Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.598-19A>G Single submitter cyclic hematopoiesis
  • c.598-4A>G Single submitter
  • c.598-5C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.67+20C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.67+7T>A Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.67+7T>C Single submitter cyclic hematopoiesis
  • c.68-145GATCCCGTGGGTTCCCGGTGGGG[3] Single submitter
  • c.68-14C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.68-16C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.68-20C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.68-5C>A Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.68-5C>T Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • c.-162C>T Single submitter
  • c.*15G>T Single submitter
  • p.Ala13= Single submitter Inborn genetic diseases
  • p.Ala136= Single submitter Inborn genetic diseases
  • p.Ala153= Single submitter Inborn genetic diseases
  • p.Ala166Pro Single submitter Inborn genetic diseases
  • p.Ala224= Single submitter Inborn genetic diseases
  • p.Ala233= Single submitter Inborn genetic diseases
  • p.Ala236= Single submitter Inborn genetic diseases
  • p.Ala25= Single submitter Inborn genetic diseases
  • p.Ala263= Single submitter cyclic hematopoiesis
  • p.Ala40= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Ala61= Single submitter Inborn genetic diseases
  • p.Ala69= Single submitter Inborn genetic diseases
  • p.Ala86= Single submitter cyclic hematopoiesis
  • p.Arg103= Single submitter Inborn genetic diseases
  • p.Arg182= Single submitter Inborn genetic diseases
  • p.Arg183= Single submitter Inborn genetic diseases
  • p.Arg248= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Arg34Trp Single submitter cyclic hematopoiesis ⚠
  • p.Arg37= Single submitter Inborn genetic diseases
  • p.Arg5= Single submitter Inborn genetic diseases
  • p.Arg50= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Arg6= Single submitter Inborn genetic diseases
  • p.Arg78= Single submitter Inborn genetic diseases
  • p.Arg96= Single submitter Inborn genetic diseases
  • p.Asn116Lys Single submitter Inborn genetic diseases
  • p.Asn76= Single submitter Inborn genetic diseases
  • p.Asn88= Single submitter Inborn genetic diseases
  • p.Asp117= Single submitter Inborn genetic diseases
  • p.Asp201= Single submitter Inborn genetic diseases
  • p.Asp243Asn Single submitter Inborn genetic diseases
  • p.Cys9= Single submitter Inborn genetic diseases
  • p.Gln134= Single submitter Inborn genetic diseases
  • p.Gln141= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Gln194Pro Single submitter Inborn genetic diseases
  • p.Gln247= Single submitter Inborn genetic diseases
  • p.Gln48= Single submitter Inborn genetic diseases
  • p.Gly108= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly142= Single submitter Inborn genetic diseases
  • p.Gly146= Single submitter Inborn genetic diseases
  • p.Gly148= Single submitter Inborn genetic diseases
  • p.Gly155= Single submitter Inborn genetic diseases
  • p.Gly157= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly192Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly196= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly200Trp Single submitter Inborn genetic diseases
  • p.Gly210= Single submitter
  • p.Gly22= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Gly226= Single submitter Inborn genetic diseases
  • p.Gly4= Single submitter Inborn genetic diseases
  • p.His70= Single submitter cyclic hematopoiesis
  • p.Ile104= Single submitter Inborn genetic diseases
  • p.Ile212= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Ile215= Single submitter Inborn genetic diseases
  • p.Ile242= Single submitter Inborn genetic diseases
  • p.Ile245= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Ile245Val Single submitter Inborn genetic diseases
  • p.Leu12= Single submitter cyclic hematopoiesis
  • p.Leu123= Single submitter Inborn genetic diseases
  • p.Leu145Val Single submitter Inborn genetic diseases
  • p.Leu159= Single submitter Inborn genetic diseases
  • p.Leu169= Single submitter Inborn genetic diseases
  • p.Leu189= Single submitter Inborn genetic diseases
  • p.Leu206= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Leu47= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Phe11= Single submitter Inborn genetic diseases
  • p.Phe54= Single submitter Inborn genetic diseases
  • p.Phe99= Single submitter Inborn genetic diseases
  • p.Pro17= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Pro229= Single submitter Inborn genetic diseases
  • p.Pro234= Single submitter Inborn genetic diseases
  • p.Pro262= Single submitter cyclic hematopoiesis
  • p.Pro38= Single submitter cyclic hematopoiesis
  • p.Pro62= Single submitter Inborn genetic diseases
  • p.Pro94= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Ser28= Single submitter Inborn genetic diseases
  • p.Ser46= Single submitter cyclic hematopoiesis
  • p.Thr128= Single submitter Inborn genetic diseases
  • p.Thr2= Single submitter Inborn genetic diseases
  • p.Thr24= Single submitter Inborn genetic diseases
  • p.Thr95= Single submitter Inborn genetic diseases
  • p.Tyr228= Single submitter Inborn genetic diseases
  • p.Val112Ile Single submitter Inborn genetic diseases
  • p.Val135= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Val168= Single submitter Inborn genetic diseases
  • p.Val219= Single submitter Inborn genetic diseases
  • p.Val219Ala Single submitter Inborn genetic diseases ⚠
  • p.Val45= Single submitter neutropenia, severe congenital, 1, autosomal dominant
  • p.Val45Ala Single submitter Inborn genetic diseases
  • p.Val72= Single submitter Inborn genetic diseases
  • p.Val77= Single submitter Inborn genetic diseases
  • c.-5C>T No assertion criteria ELANE-related disorder

Uncertain significance 395

Showing the top 300 by review status; the full set is in the sitemap.