VPS45 — 658 ClinVar variants

All ClinVar germline VPS45 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 184 flagged for review →

1 Pathogenic · 15 Likely pathogenic · 16 Conflicting · 30 Benign · 9 Benign/Likely benign · 379 Likely benign · 208 Uncertain significance

Full VPS45 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 184

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 agree, ClinVar conflicts 6

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

VPS45 p.Ala385Val Conflicting Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg218Cys Conflicting Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg386His Conflicting Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg481Lys Conflicting Single submitter
Inborn genetic diseases
VPS45 p.Pro253Leu Conflicting Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Tyr419His Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 140

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

VPS45 p.Ala567Val Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg148Gln Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg176Cys Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg205Cys Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg205His Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg345Trp Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Arg397Gln Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg411Gly Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Arg433Gln Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Arg54Cys Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Arg555Pro Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg565Gly Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Arg87Gln Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asn140Ser Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asp220His Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asp362Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Glu189Gly Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Gly21Asp Uncertain significance Multiple submitters
VPS45 p.Ile15Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Ile247Val Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Leu142Phe Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Lys104Asn Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Lys13Arg Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Lys296Asn Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Lys300Glu Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Lys67Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Met63Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Pro377Thr Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ser156Ala Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Thr163Ala Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val107Glu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Val191Ile Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val194Met Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val262Ala Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ala153Thr Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ala164Thr Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ala164Val Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ala184Pro Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Ala188Gly Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ala309Gly Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ala313Val Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ala385Ser Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Ala447Ser Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ala68Pro Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Arg176Pro Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg205Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Arg206Gln Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg251Lys Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Arg386Cys Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg523Cys Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Arg555Gln Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asn243Tyr Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Asn274Asp Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Asn274Ser Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asn286Ser Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asp28Gly Uncertain significance Single submitter
VPS45 p.Asp444Asn Uncertain significance Single submitter
VPS45 p.Asp56Gly Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asp80Gly Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Asp80Val Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Cys144Ser Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Gln154Leu Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Gln229His Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Gln58Arg Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Gln84Arg Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Glu396Lys Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Glu472Lys Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Glu48Gly Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Glu513Gly Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Glu545Gly Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Glu558Gln Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Glu61Ala Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Gly147Ser Uncertain significance Single submitter
VPS45 p.Gly161Arg Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.His471Arg Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.His476Arg Uncertain significance Single submitter
VPS45 p.His65Arg Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ile102Val Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ile44Val Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ile530Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Ile55Asn Uncertain significance Single submitter
VPS45 p.Leu179Pro Uncertain significance Single submitter
VPS45 p.Leu227Pro Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Leu357Met Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Leu403Pro Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Leu439Phe Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Leu86Pro Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Lys322Asn Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Lys378Arg Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Lys432Gln Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Lys443Glu Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Lys483Arg Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Lys90Arg Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Met22Val Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Met407Ile Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Met63Ile Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Pro20Ser Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Pro299Ala Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Pro488Arg Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Pro74Ser Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ser256Asn Uncertain significance Single submitter
VPS45 p.Ser441Ile Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Ser542Thr Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ser559Thr Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ser560Pro Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Thr159Ala Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Thr207Ala Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Thr494Ile Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Thr535Ile Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Trp230Cys Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Tyr199Ser Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Tyr39Asn Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Tyr512Cys Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Tyr81Cys Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Val132Gly Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Val328Leu Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val388Met Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val423Met Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val426Leu Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val506Ile Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val528Met Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asn539Lys Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asp217His Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asp293Tyr Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Glu316Lys Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Glu546Lys Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Gly455Val Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.His394Arg Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ile11Val Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ile62Met Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Leu482Pro Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Lys541Arg Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Lys67Thr Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Met174Ile Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Pro499Thr Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Thr196Ala Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val118Gly Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val24Leu Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val434Ile Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val547Ala Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome

Predictors split 38

The independent predictors disagree with each other — read with care.

VPS45 p.Ala392Thr Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ala445Gly Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Arg340Gln Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Cys172Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Leu240Val Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Leu25Ile Uncertain significance Multiple submitters
Inborn genetic diseases
VPS45 p.Ser57Tyr Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Thr75Ala Uncertain significance Multiple submitters
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val547Phe Uncertain significance Multiple submitters
VPS45 p.Ala309Val Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ala358Thr Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asn100Ser Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Asp151Gly Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Glu381Lys Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Gly254Ala Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.His135Arg Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Ile242Met Uncertain significance Single submitter
VPS45 p.Ile308Val Uncertain significance Single submitter
VPS45 p.Leu357Val Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Lys197Glu Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Lys64Asn Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Pro468Leu Likely pathogenic Single submitter
VPS45 p.Ser399Arg Conflicting Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Thr464Ala Uncertain significance Single submitter
VPS45 p.Thr473Asn Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Thr517Ile Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Tyr39Cys Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Tyr519Cys Conflicting Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val107Leu Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val107Met Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val118Ala Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Val118Ile Uncertain significance Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val209Phe Conflicting Single submitter
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val49Ala Uncertain significance Single submitter
Inborn genetic diseases
VPS45 p.Val79Met Uncertain significance Single submitter
VPS45 p.Glu16Gly Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val132Met Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome
VPS45 p.Val504Leu Uncertain significance No assertion criteria
congenital neutropenia-myelofibrosis-nephromegaly syndrome

All VPS45 variants

Pathogenic 1

p.Thr224Asn Multiple submitters severe congenital neutropenia

Likely pathogenic 15

p.Glu238Lys Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg420Ter Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg433Ter Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg60Ter Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile130fs Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu474fs Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Lys257fs Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Met235fs Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Pro299fs Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Pro468Leu Single submitter ⚠
p.Tyr10Ter Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Tyr129Ter Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Tyr391Ter Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Tyr419Ter Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Tyr91fs Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome

Conflicting classifications of pathogenicity 16

c.1371+5A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.369+8T>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala385Val Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg148Ter Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg218Cys Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg340Ter Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg386His Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg481Lys Single submitter Inborn genetic diseases ⚠
p.Asp409fs Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Lys296= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Pro253Leu Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ser399Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Tyr232fs Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Tyr419His Single submitter Inborn genetic diseases ⚠
p.Tyr519Cys Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val209Phe Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠

Benign 30

c.1104+54G>A Multiple submitters
c.1105-126A>G Multiple submitters
c.1105-95G>A Multiple submitters
c.1494-144T>G Multiple submitters
c.228+102G>A Multiple submitters
c.229-94C>T Multiple submitters
c.289+31G>A Multiple submitters
c.290-14C>T Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.369+130C>T Multiple submitters
c.369+29C>T Multiple submitters
c.370-123A>T Multiple submitters
c.576+120G>A Multiple submitters
c.576+153A>G Multiple submitters
c.687+125C>T Multiple submitters
c.687+77A>G Multiple submitters
c.688-120G>A Multiple submitters
c.688-35T>C Multiple submitters
p.Glu344= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1105-160G>C Single submitter
c.1372-336T>C Single submitter
c.1372-3del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.229-5dup Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.290-169del Single submitter
c.439-10dup Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.439-2del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.576+101del Single submitter
c.687+201G>A Single submitter
c.688-18del Single submitter
c.937-11del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.937-28C>T Single submitter

Benign/Likely benign 9

c.1371+9A>T Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1626-14A>C Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.290-10T>C Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.937-16G>A Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asp106= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Cys190= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile82Met Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Pro299= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ser42= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome

Likely benign 379

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

c.1104+17G>A Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1264-14C>G Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1371+18A>G Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1372-9C>T Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1494-17A>T Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1494-7A>G Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.576+18C>T Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.577-17T>C Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala234= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala313= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg433= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asp438= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gly19= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gly491= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile130= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Pro152= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Val446= Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1104+10A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1104+14G>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1104+19G>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1104+22_1104+28dup Single submitter
c.1104+7C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1104+8C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1105-10C>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1105-10C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1105-11T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1105-12_1105-9del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1105-12A>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1105-12A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1105-14C>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1105-15del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1105-5T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1263+10T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1263+11dup Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1263+11T>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1263+13C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1263+14A>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1263+16A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1263+17T>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1263+18T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1263+7A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1263+8G>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1264-13del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1264-14C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1264-9_1264-6del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1371+10TC[3] Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1371+11C>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1371+13C>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1371+14_1371+16del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1371+14C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1371+15T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1371+16C>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1371+16C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1371+9A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1372-10C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1372-20A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1372-4T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1372-6T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1372-7G>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1372-8del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1372-9_1372-8del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1372-9C>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1493+12A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1493+14G>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1493+18T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1494-14C>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1494-14C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1494-15del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1494-5T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1494-6T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1625+15T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1625+17A>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1625+19T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1625+20C>T Single submitter
c.1625+9_1625+10del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1626-17C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1626-18C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1626-4T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1626-4T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1626-5A>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1626-8C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.1626-8del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.228+12dup Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.228+17G>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.228+19_228+22dup Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.228+30C>T Single submitter
c.228+7C>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.228+7C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.228+8A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.228+9T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.229-10C>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.229-19C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.229-6T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.289+12_289+15del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.289+15T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.289+16C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.289+19T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.289+19T>G Single submitter
c.290-11_290-10del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.290-12C>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.290-12C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.290-13T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.290-18C>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.290-18C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.290-19C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.290-20C>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.369+10T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.369+20A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.369+7A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.369+9_369+10del Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.369+9A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.370-12C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.370-15G>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.370-18T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.370-9T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.438+13A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.438+14G>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.438+18T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.438+7A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.438+9G>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.439-14T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.439-6A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.439-6A>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.439-7C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.576+12C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.576+15A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.576+20T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.576+7C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.576+8A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.577-13C>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.577-13C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.577-4A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.577-5C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.577-6C>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.577-9C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.687+19G>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.687+20C>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.687+9C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.688-10C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.688-16A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.688-18T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.822+14A>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.822+16T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.822+18T>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.822+7G>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.822+9T>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.822+9T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.823-11C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.823-12T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.823-13T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.823-20T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.823-5C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.823-7T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.823-8T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.93+10C>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.93+13_93+14dup Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.93+14T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.93+16C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.93+17T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.93+18C>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.93+19A>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.936+11C>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.936+11C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.936+12A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.936+13T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.936+14G>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.936+15T>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.936+16A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.936+18A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.936+9A>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.937-10C>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.937-12T>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.937-7A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.937-8C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.94-11T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.94-16T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.94-18A>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.94-5T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.*76G>T Single submitter
p.Ala188= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala222= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala358= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala366= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala384= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala385= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala392= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala445= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala447= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala510= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala567= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala68= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg176= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg205= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg218= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg260= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg372= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg386= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg411= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg420= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg435= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg481= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg60= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg73= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg87= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asn100= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asn133= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asn149= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asn2= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asn228= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asn401= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asn485= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asn520= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asn78= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asp114= Single submitter
p.Asp221= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asp310= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asp497= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asp56= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Cys144= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Cys145= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Cys172= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Cys70= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gln116= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gln154= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gln302= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gln41= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gln451= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gln465= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gln467= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gln500= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gln9= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu112= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu115= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu121= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu124= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu16= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu198= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu200= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu203= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu208= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu238= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu261= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu316= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu337= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu53= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gly143= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gly147= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gly254= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gly284= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gly414= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gly455= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gly458= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Gly551= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.His135= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.His237= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.His331= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.His398= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.His476= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.His538= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.His553= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile11= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile175= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile215= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile255= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile370Val Single submitter Inborn genetic diseases
p.Ile448= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile503= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile62= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile82= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu110= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu136= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu155= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu179= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu201= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu212= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu216= Single submitter
p.Leu227= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu239= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu240= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu249= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu26= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu264= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu278= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu305= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu338= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu341= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu347= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu348= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu367= Single submitter
p.Leu374= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu390= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu393= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu406= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu422= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu45= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu453= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu456= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu470= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu486= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu532= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome

Uncertain significance 208

c.687+5A>G Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala392Thr Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ala445Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala567Val Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg148Gln Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg176Cys Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg205Cys Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg205His Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg260Gly Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg340Gln Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg345Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg397Gln Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg411Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg433Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg523Leu Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Arg54Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg555Pro Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg565Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg87Gln Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Asn140Ser Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Asp220His Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Asp362Val Multiple submitters Inborn genetic diseases ⚠
p.Cys172Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu189Gly Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Glu77Lys Multiple submitters Inborn genetic diseases
p.Gly21Asp Multiple submitters ⚠
p.Ile15Val Multiple submitters Inborn genetic diseases ⚠
p.Ile247Val Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Leu142Phe Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Leu240Val Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Leu25Ile Multiple submitters Inborn genetic diseases ⚠
p.Lys104Asn Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Lys13Arg Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Lys296Asn Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Lys300Glu Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Lys67Arg Multiple submitters Inborn genetic diseases ⚠
p.Met63Val Multiple submitters Inborn genetic diseases ⚠
p.Pro377Thr Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ser156Ala Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ser57Tyr Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Thr163Ala Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Thr75Ala Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val107Glu Multiple submitters Inborn genetic diseases ⚠
p.Val191Ile Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val194Met Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val262Ala Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val423Leu Multiple submitters congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Val547Phe Multiple submitters ⚠
c.370-16G>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.576+4T>C Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.576+6G>A Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.936+5A>G Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.-3G>T Single submitter
c.-4C>T Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.*4G>A Single submitter
p.Ala153Thr Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ala164Thr Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ala164Val Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ala184Pro Single submitter Inborn genetic diseases ⚠
p.Ala188Gly Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ala309Gly Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ala309Val Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ala313Val Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ala358Thr Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ala385Ser Single submitter Inborn genetic diseases ⚠
p.Ala447Ser Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ala515Thr Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ala68Pro Single submitter Inborn genetic diseases ⚠
p.Arg176Pro Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg205Leu Single submitter Inborn genetic diseases ⚠
p.Arg206Gln Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg251Lys Single submitter Inborn genetic diseases ⚠
p.Arg386Cys Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg523Cys Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Arg555Gln Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Asn100Ser Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Asn243Tyr Single submitter Inborn genetic diseases ⚠
p.Asn274Asp Single submitter Inborn genetic diseases ⚠
p.Asn274Ser Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Asn286Ser Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Asp151Gly Single submitter Inborn genetic diseases ⚠
p.Asp28Gly Single submitter ⚠
p.Asp444Asn Single submitter ⚠
p.Asp56Gly Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Asp80Gly Single submitter Inborn genetic diseases ⚠
p.Asp80Val Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Cys144Ser Single submitter Inborn genetic diseases ⚠
p.Gln154Leu Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Gln193= Single submitter
p.Gln229His Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Gln368Ter Single submitter
p.Gln58Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Gln84Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Glu381Lys Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Glu396Gln Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Glu396Lys Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Glu472Lys Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Glu48Gly Single submitter Inborn genetic diseases ⚠
p.Glu513Gly Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Glu545Gly Single submitter Inborn genetic diseases ⚠
p.Glu558Gln Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Glu61Ala Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Gly147Ser Single submitter ⚠
p.Gly161Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Gly254Ala Single submitter Inborn genetic diseases ⚠
p.Gly534Val Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.His135Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.His471Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.His476Arg Single submitter ⚠
p.His65Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ile102Val Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ile242Met Single submitter ⚠
p.Ile287Met Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile308Val Single submitter ⚠
p.Ile44Val Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ile530Thr Single submitter Inborn genetic diseases ⚠
p.Ile55Asn Single submitter ⚠
p.Leu179Pro Single submitter ⚠
p.Leu227Pro Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Leu259Phe Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu357Met Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Leu357Val Single submitter Inborn genetic diseases ⚠
p.Leu403Pro Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Leu439Phe Single submitter Inborn genetic diseases ⚠
p.Leu86Pro Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Lys197Glu Single submitter Inborn genetic diseases ⚠
p.Lys322Asn Single submitter Inborn genetic diseases ⚠
p.Lys378Arg Single submitter Inborn genetic diseases ⚠
p.Lys432Gln Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Lys443Glu Single submitter Inborn genetic diseases ⚠
p.Lys483Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Lys64Asn Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Lys76= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Lys90Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Met22Val Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Met407Ile Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Met63Ile Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Pro20Ser Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Pro299Ala Single submitter Inborn genetic diseases ⚠
p.Pro488Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Pro488fs Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Pro526Arg Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Pro74Ser Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ser256Asn Single submitter ⚠
p.Ser441Ile Single submitter Inborn genetic diseases ⚠
p.Ser542Thr Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ser559= Single submitter
p.Ser559Thr Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ser560Pro Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Thr159Ala Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Thr207Ala Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Thr31= Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Thr464Ala Single submitter ⚠
p.Thr473Asn Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Thr494Ile Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Thr517Ile Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Thr535Ile Single submitter Inborn genetic diseases ⚠
p.Trp230Cys Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Tyr199Ser Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Tyr39Asn Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Tyr39Cys Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Tyr512Cys Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Tyr81Cys Single submitter Inborn genetic diseases ⚠
p.Val101Met Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Val107Leu Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val107Met Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val118Ala Single submitter Inborn genetic diseases ⚠
p.Val118Ile Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val132Gly Single submitter Inborn genetic diseases ⚠
p.Val328Ile Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Val328Leu Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val388Met Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val423Met Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val426Leu Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val49Ala Single submitter Inborn genetic diseases ⚠
p.Val506Ile Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val528Met Single submitter congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val79Met Single submitter ⚠
c.289+8T>A No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome
c.*8G>C No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Asn539Lys No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Asp217His No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Asp293Tyr No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Glu16Gly No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Glu316Lys No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Glu546Lys No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Gly455Val No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.His394Arg No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ile11Val No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ile502= No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Ile62Met No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Leu290Val No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Leu482Pro No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Lys541Arg No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Lys67Thr No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Met174Ile No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Pro211= No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Pro499Thr No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Ser325= No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Thr196Ala No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Thr224= No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Tyr94= No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome
p.Val118Gly No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val132Met No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val24Leu No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val434Ile No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val504Leu No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠
p.Val547Ala No assertion criteria congenital neutropenia-myelofibrosis-nephromegaly syndrome ⚠