WDR45 — 445 ClinVar variants
All ClinVar germline WDR45 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
85 Pathogenic · 14 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 26 Conflicting · 14 Benign · 16 Benign/Likely benign · 122 Likely benign · 124 Uncertain significance
Full WDR45 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
WDR45 p.Ala175Val
Conflicting
Single submitter
Inborn genetic diseases
-
WDR45 p.Ala254Thr
Conflicting
Single submitter
Inborn genetic diseases
-
WDR45 p.Arg133Gln
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg232Cys
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg86Trp
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Asn321Ser
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Asp130Ala
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Cys310Tyr
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Gly146Arg Conflicting Single submitter
-
WDR45 p.Gly214Asp
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.His262Pro
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Ile188Asn
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Leu95Val
Conflicting
Single submitter
Inborn genetic diseases
-
WDR45 p.Thr316Ser
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Tyr351His
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Val328Ile
Conflicting
Single submitter
Inborn genetic diseases
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
WDR45 c.827+2dup
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
Predictors lean, ClinVar uncertain 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
WDR45 p.Ala276Thr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Ala85Val
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg111Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg111His
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Leu150Val
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Pro144Leu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Ser153Arg
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Val108Met
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Ala298Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg122His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg232Leu
Uncertain significance
Single submitter
intellectual disability
-
WDR45 p.Arg270His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Asn131Ser
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Asn319Ile Uncertain significance Single submitter
-
WDR45 p.Asp130Glu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Asp173Asn
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Asp83Tyr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Cys327Trp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Cys355Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Gln202His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Gln223His Uncertain significance Single submitter
-
WDR45 p.Gln294Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Gly330Arg
Uncertain significance
Single submitter
migraine, familial hemiplegic, 1
-
WDR45 p.Gly330Glu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Gly341Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.His112Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.His112Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.His247Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Ile195Arg Uncertain significance Single submitter
-
WDR45 p.Ile195Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Leu106Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Leu135Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Leu169Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Leu252Phe Uncertain significance Single submitter
-
WDR45 p.Leu252Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Lys134Glu Uncertain significance Single submitter
-
WDR45 p.Lys258Thr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Lys318Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Lys89Asn
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Met110Thr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Met286Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Phe101Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Phe161Ser
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Phe220Leu Uncertain significance Single submitter
-
WDR45 p.Ser168Cys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Ser193Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Ser211Phe
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Ser249Ala Uncertain significance Single submitter
- WDR45 p.Ser249Tyr Uncertain significance Single submitter
- WDR45 p.Thr187Met Uncertain significance Single submitter
- WDR45 p.Thr222Lys Uncertain significance Single submitter
- WDR45 p.Val105Met Uncertain significance Single submitter
- WDR45 p.Val198Met Uncertain significance Single submitter
-
WDR45 p.Val320Ile
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Val323Asp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
Predictors split 43
The independent predictors disagree with each other — read with care.
-
WDR45 p.Ala196Gly
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg122Gly
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg279His
Likely benign
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg314Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Asp248Asn
Likely benign
Multiple submitters
Inborn genetic diseases
-
WDR45 p.Asp257Asn
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Asp349Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WDR45 p.Gly288Val
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Val118Met
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Val280Met
Benign/Likely benign
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Val350Met
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Ala276Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Ala304Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Ala347Ser
Likely benign
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg109Cys
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg109His
Conflicting
Single submitter
Inborn genetic diseases
- WDR45 p.Arg141Gly Uncertain significance Single submitter
-
WDR45 p.Arg233Gln
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Arg273His Uncertain significance Single submitter
-
WDR45 p.Arg274His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg279Cys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg279Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Arg86Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Asn344Asp
Likely pathogenic
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Asp236Glu
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Asp359Tyr Uncertain significance Single submitter
-
WDR45 p.Cys327Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Glu346Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
WDR45 p.Gly288Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Gly313Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Gly313Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.His333Gln
Uncertain significance
Single submitter
WDR45-related disorder
- WDR45 p.Ile117Leu Likely benign Single submitter
-
WDR45 p.Leu97Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Lys114Met
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Lys282Met
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Phe128Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
WDR45 p.Ser193Cys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Thr235Ile
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Val125Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
-
WDR45 p.Val172Met
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 5
- WDR45 p.Val291Met Uncertain significance Single submitter
-
WDR45 p.Val328Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All WDR45 variants
Pathogenic 85
- c.340_341+2del Multiple submitters
- c.437-2A>G Multiple submitters neurodegeneration with brain iron accumulation 5
- c.516+1G>A Multiple submitters neurodegeneration with brain iron accumulation 5
- c.726-1G>A Multiple submitters neurodegeneration with brain iron accumulation 5
- c.726-2A>G Multiple submitters neurodegeneration with brain iron accumulation 5
- c.827+1G>A Multiple submitters neurodegeneration with brain iron accumulation 5
- c.827+1G>C Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Arg233Ter Multiple submitters Inborn genetic diseases
- p.Asn201fs Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Gln170Ter Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Gln202Ter Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Gln223fs Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Gln289Ter Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Ile195fs Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Lys318fs Multiple submitters WDR45-related disorder
- p.Tyr124fs Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Tyr290Ter Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Tyr335fs Multiple submitters neurodegeneration with brain iron accumulation 5
- c.236-21A>G Single submitter neurodegeneration with brain iron accumulation 5
- c.341+5G>A Single submitter
- c.342-2A>C Single submitter neurodegeneration with brain iron accumulation 5
- c.436+2T>C Single submitter
- c.436+2T>G Single submitter
- c.437-2A>C Single submitter neurodegeneration with brain iron accumulation 5
- c.516+1del Single submitter neurodegeneration with brain iron accumulation 5
- c.516+1G>T Single submitter neurodegeneration with brain iron accumulation 5
- c.516+2T>C Single submitter
- c.516+5G>T Single submitter neurodegeneration with brain iron accumulation 5
- c.517-2A>G Single submitter neurodegeneration with brain iron accumulation 5
- c.725+2T>A Single submitter neurodegeneration with brain iron accumulation 5
- c.827+2_827+3del Single submitter neurodegeneration with brain iron accumulation 5
- c.827+5G>T Single submitter neurodegeneration with brain iron accumulation 5
- c.828-1G>C Single submitter
- c.828-3C>A Single submitter neurodegeneration with brain iron accumulation 5
- p.Ala298fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Arg111fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Arg314fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Asp257fs Single submitter
- p.Asp292fs Single submitter
- p.Cys308fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Cys327Ter Single submitter neurodegeneration with brain iron accumulation 5
- p.Gln192Ter Single submitter
- p.Gln202fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Gln223Ter Single submitter neurodegeneration with brain iron accumulation 5
- p.Gln289fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Gln294fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Glu137Ter Single submitter neurodegeneration with brain iron accumulation 5
- p.Glu346fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Glu346Ter Single submitter neurodegeneration with brain iron accumulation 5
- p.Glu98Ter Single submitter intellectual disability
- p.Gly163fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Gly204Asp Single submitter neurodegeneration with brain iron accumulation 5
- p.Gly313fs Single submitter neurodegeneration with brain iron accumulation 5
- p.His164fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Ile115_Val116insTer Single submitter neurodegeneration with brain iron accumulation 5
- p.Ile188fs Single submitter WDR45-related disorder
- p.Ile263fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu200fs Single submitter WDR45-related disorder
- p.Leu266fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu97Pro Single submitter WDR45-related disorder
- p.Lys103Ter Single submitter
- p.Lys225Ter Single submitter neurodegeneration with brain iron accumulation 5
- p.Lys227fs Single submitter
- p.Lys267fs Single submitter
- p.Phe264fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Phe332fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Phe337fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Pro162fs Single submitter
- p.Pro303fs Single submitter
- p.Pro339fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Ser153fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Ser168fs Single submitter
- p.Ser183fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Ser209Ter Single submitter neurodegeneration with brain iron accumulation 5
- p.Thr177fs Single submitter
- p.Thr205_Val206insTer Single submitter
- p.Trp295Ter Single submitter
- p.Trp82fs Single submitter
- p.Tyr335Ter Single submitter neurodegeneration with brain iron accumulation 5
- p.Val207fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Val302fs Single submitter neurodegeneration with brain iron accumulation 5
- c.437-4_437-2delinsT No assertion criteria neurodegeneration with brain iron accumulation 5
- p.Gln212Ter No assertion criteria neurodegeneration with brain iron accumulation 5
- p.Leu147fs No assertion criteria neurodegeneration with brain iron accumulation 5
- p.Leu171fs No assertion criteria neurodegeneration with brain iron accumulation 5
Pathogenic/Likely pathogenic 14
- c.342-2A>G Multiple submitters neurodegeneration with brain iron accumulation 5
- c.342-3C>G Multiple submitters neurodegeneration with brain iron accumulation 5
- c.437-1G>A Multiple submitters neurodegeneration with brain iron accumulation 5
- c.516+1_516+3del Multiple submitters WDR45-related disorder
- c.827+1G>T Multiple submitters neurodegeneration with brain iron accumulation 5
- c.827+5G>C Multiple submitters neurodegeneration with brain iron accumulation 5
- c.973+1G>A Multiple submitters neurodegeneration with brain iron accumulation 5
- c.974-1G>A Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Arg133Ter Multiple submitters X-linked cerebral-cerebellar-coloboma syndrome syndrome
- p.Arg232His Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Gly167Glu Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Phe136fs Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Ser250del Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Val323fs Multiple submitters WDR45-related disorder
Likely pathogenic 44
- p.Glu137_Phe138del Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Gly234Asp Multiple submitters neurodegeneration with brain iron accumulation 5
- c.236-1G>A Single submitter WDR45-related disorder
- c.332_341+41del Single submitter neurodegeneration with brain iron accumulation 5
- c.341+2T>A Single submitter
- c.436+1G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.437-2A>T Single submitter neurodegeneration with brain iron accumulation 5
- c.437-3T>G Single submitter neurodegeneration with brain iron accumulation 5
- c.516+5G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.725+1G>T Single submitter neurodegeneration with brain iron accumulation 5
- c.726-17_726-6del Single submitter neurodegeneration with brain iron accumulation 5
- c.827+3G>C Single submitter
- c.827+5G>A Single submitter
- c.828-2A>C Single submitter neurodegeneration with brain iron accumulation 5
- c.828-2A>G Single submitter neurodegeneration with brain iron accumulation 5
- c.973+1_973+3del Single submitter neurodegeneration with brain iron accumulation 5
- c.973+5_973+10del Single submitter Inborn genetic diseases
- c.974-2A>G Single submitter neurodegeneration with brain iron accumulation 5
- p.Arg233Leu Single submitter neurodegeneration with brain iron accumulation 5
- p.Asn344Asp Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Asn344fs Single submitter
- p.Asp221fs Single submitter WDR45-related disorder
- p.Cys166fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Cys310Arg Single submitter neurodegeneration with brain iron accumulation 5
- p.Cys343fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Gly146Glu Single submitter neurodegeneration with brain iron accumulation 5
- p.Gly163Ter Single submitter
- p.Gly167Arg Single submitter neurodegeneration with brain iron accumulation 5
- p.Gly214Arg Single submitter Inborn genetic diseases
- p.Gly214Val Single submitter neurodegeneration with brain iron accumulation 5
- p.Ile117fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Ile188Ser Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu159Pro Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu219_Phe220insTer Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu231Pro Single submitter
- p.Lys103fs Single submitter WDR45-related disorder
- p.Lys225fs Single submitter WDR45-related disorder
- p.Ser127del Single submitter neurodegeneration with brain iron accumulation 5
- p.Thr102del Single submitter neurodegeneration with brain iron accumulation 5
- p.Trp82Ser Single submitter
- p.Val350fs Single submitter neurodegeneration with brain iron accumulation 5
- c.236-1G>T No assertion criteria optic atrophy 2
- c.341+4A>C No assertion criteria neurodegeneration with brain iron accumulation 5
- p.Val336_Phe337insVal No assertion criteria neurodegeneration with brain iron accumulation 5
Conflicting classifications of pathogenicity 26
- c.341+16A>T Single submitter neurodegeneration with brain iron accumulation 5
- c.436+5G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.436+5G>C Single submitter neurodegeneration with brain iron accumulation 5
- c.827+2dup Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Ala175Val Single submitter Inborn genetic diseases ⚠
- p.Ala254Thr Single submitter Inborn genetic diseases ⚠
- p.Arg109Cys Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg109His Single submitter Inborn genetic diseases ⚠
- p.Arg133Gln Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg232Cys Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg233Gln Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg86Trp Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Asn321Ser Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Asp130Ala Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Asp236Glu Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Cys310Tyr Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Gly146Arg Single submitter ⚠
- p.Gly214Asp Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.His262Pro Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Ile188Asn Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Leu95Val Single submitter Inborn genetic diseases ⚠
- p.Thr316Ser Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Tyr290= Single submitter neurodegeneration with brain iron accumulation 5
- p.Tyr351His Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Val172= Single submitter WDR45-related disorder
- p.Val328Ile Single submitter Inborn genetic diseases ⚠
Benign 14
- c.436+141C>G Multiple submitters
- c.436+199G>C Multiple submitters
- c.437-19C>G Single submitter neurodegeneration with brain iron accumulation 5
- c.974-10C>A Single submitter neurodegeneration with brain iron accumulation 5
- c.974-14C>A Single submitter neurodegeneration with brain iron accumulation 5
- c.974-14C>G Single submitter neurodegeneration with brain iron accumulation 5
- c.974-15dup Single submitter neurodegeneration with brain iron accumulation 5
- c.-367-184_-367-175dup Single submitter
- c.-385G>C Single submitter
- p.Asp83= Single submitter neurodegeneration with brain iron accumulation 5
- p.Cys327= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ile115= Single submitter neurodegeneration with brain iron accumulation 5
- p.Thr235Ala Single submitter neurodegeneration with brain iron accumulation 5
- p.Tyr351= Single submitter neurodegeneration with brain iron accumulation 5
Benign/Likely benign 16
- c.236-18C>T Multiple submitters neurodegeneration with brain iron accumulation 5
- c.436+10C>T Multiple submitters neurodegeneration with brain iron accumulation 5
- c.436+7G>A Multiple submitters neurodegeneration with brain iron accumulation 5
- c.827+12del Multiple submitters neurodegeneration with brain iron accumulation 5
- c.974-4C>A Multiple submitters neurodegeneration with brain iron accumulation 5
- c.974-9del Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Arg86Gln Multiple submitters Inborn genetic diseases
- p.Asn189Ser Multiple submitters Inborn genetic diseases
- p.Asn315Thr Multiple submitters Inborn genetic diseases
- p.Asp113Asn Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Asp84Asn Multiple submitters Inborn genetic diseases
- p.Ile117= Multiple submitters Inborn genetic diseases
- p.Ile188= Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Pro162Leu Multiple submitters Inborn genetic diseases
- p.Ser275= Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Val280Met Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
Likely benign 122
- c.341+18C>T Multiple submitters neurodegeneration with brain iron accumulation 5
- c.437-10C>T Multiple submitters neurodegeneration with brain iron accumulation 5
- c.516+8G>A Multiple submitters neurodegeneration with brain iron accumulation 5
- c.827+12C>T Multiple submitters neurodegeneration with brain iron accumulation 5
- c.827+19C>T Multiple submitters neurodegeneration with brain iron accumulation 5
- c.974-10C>G Multiple submitters neurodegeneration with brain iron accumulation 5
- c.-140G>A Multiple submitters
- c.*19T>A Multiple submitters
- p.Ala85= Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Arg279His Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg314His Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Asn189= Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Asp248Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys253= Multiple submitters Inborn genetic diseases
- p.Cys310= Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Lys94= Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Phe312= Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Ser107= Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Ser176Asn Multiple submitters Inborn genetic diseases
- p.Val206= Multiple submitters neurodegeneration with brain iron accumulation 5
- c.236-14C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.236-15C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.236-7C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.341+15G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.341+18C>G Single submitter neurodegeneration with brain iron accumulation 5
- c.341+19G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.342-11G>C Single submitter
- c.342-15G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.342-18G>C Single submitter neurodegeneration with brain iron accumulation 5
- c.342-6C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.342-8A>G Single submitter neurodegeneration with brain iron accumulation 5
- c.436+13A>C Single submitter neurodegeneration with brain iron accumulation 5
- c.436+14G>T Single submitter neurodegeneration with brain iron accumulation 5
- c.436+18C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.436+20C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.437-16C>G Single submitter neurodegeneration with brain iron accumulation 5
- c.437-18C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.437-19C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.437-36C>T Single submitter
- c.437-4C>G Single submitter neurodegeneration with brain iron accumulation 5
- c.437-5C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.516+16G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.516+17A>T Single submitter neurodegeneration with brain iron accumulation 5
- c.516+7C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.517-14C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.517-17C>A Single submitter neurodegeneration with brain iron accumulation 5
- c.517-6C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.517-8T>G Single submitter neurodegeneration with brain iron accumulation 5
- c.725+10G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.725+11G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.725+20G>A Single submitter
- c.726-12T>C Single submitter neurodegeneration with brain iron accumulation 5
- c.726-8T>C Single submitter neurodegeneration with brain iron accumulation 5
- c.827+10C>G Single submitter
- c.827+16C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.827+8C>A Single submitter neurodegeneration with brain iron accumulation 5
- c.828-15C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.828-6C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.828-9T>C Single submitter neurodegeneration with brain iron accumulation 5
- c.974-11C>G Single submitter neurodegeneration with brain iron accumulation 5
- c.974-13C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.974-14C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.974-15C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.974-16A>C Single submitter neurodegeneration with brain iron accumulation 5
- c.974-4C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.974-5C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.974-7C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.-372T>C Single submitter
- c.-467A>G Single submitter
- c.-50GAAA[1] Single submitter
- p.Ala208= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ala298= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ala311= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ala347Ser Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg111= Single submitter neurodegeneration with brain iron accumulation 5
- p.Arg141Gln Single submitter neurodegeneration with brain iron accumulation 5
- p.Arg270Ser Single submitter
- p.Arg279= Single submitter neurodegeneration with brain iron accumulation 5
- p.Arg86= Single submitter neurodegeneration with brain iron accumulation 5
- p.Asn319= Single submitter neurodegeneration with brain iron accumulation 5
- p.Asp130= Single submitter neurodegeneration with brain iron accumulation 5
- p.Asp130Asn Single submitter neurodegeneration with brain iron accumulation 5
- p.Asp173= Single submitter intellectual disability
- p.Asp349= Single submitter neurodegeneration with brain iron accumulation 5
- p.Asp359= Single submitter
- p.Glu87= Single submitter neurodegeneration with brain iron accumulation 5
- p.Gly88= Single submitter
- p.His112= Single submitter neurodegeneration with brain iron accumulation 5
- p.His262= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ile117Leu Single submitter ⚠
- p.Ile326= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ile354= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ile81= Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu147= Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu150= Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu169= Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu200= Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu216= Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu80= Single submitter neurodegeneration with brain iron accumulation 5
- p.Leu95= Single submitter neurodegeneration with brain iron accumulation 5
- p.Lys134= Single submitter neurodegeneration with brain iron accumulation 5
- p.Lys318= Single submitter neurodegeneration with brain iron accumulation 5
- p.Met110Val Single submitter neurodegeneration with brain iron accumulation 5
- p.Phe245= Single submitter neurodegeneration with brain iron accumulation 5
- p.Pro129= Single submitter neurodegeneration with brain iron accumulation 5
- p.Pro162= Single submitter neurodegeneration with brain iron accumulation 5
- p.Pro339= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ser182= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ser209= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ser249= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ser317= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ser317Phe Single submitter neurodegeneration with brain iron accumulation 5
- p.Ser322= Single submitter neurodegeneration with brain iron accumulation 5
- p.Thr187= Single submitter neurodegeneration with brain iron accumulation 5
- p.Thr222= Single submitter neurodegeneration with brain iron accumulation 5
- p.Thr301= Single submitter neurodegeneration with brain iron accumulation 5
- p.Tyr126= Single submitter
- p.Tyr241= Single submitter neurodegeneration with brain iron accumulation 5
- p.Val116Met Single submitter neurodegeneration with brain iron accumulation 5
- p.Val207= Single submitter neurodegeneration with brain iron accumulation 5
- p.Val229= Single submitter neurodegeneration with brain iron accumulation 5
- p.Val328Leu Single submitter neurodegeneration with brain iron accumulation 5
Uncertain significance 124
- c.437-27A>C Multiple submitters
- c.437-6C>G Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Ala196Gly Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Ala276Thr Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Ala85Val Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg111Cys Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg111His Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg122Gly Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg314Cys Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Asp257Asn Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Asp349Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gly288Val Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Leu147Phe Multiple submitters Inborn genetic diseases
- p.Leu150Val Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Pro144Leu Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Ser153Arg Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Ser249Asp Multiple submitters neurodegeneration with brain iron accumulation 5
- p.Val108Met Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Val118Met Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- p.Val350Met Multiple submitters neurodegeneration with brain iron accumulation 5 ⚠
- c.236-12C>G Single submitter neurodegeneration with brain iron accumulation 5
- c.341+23T>C Single submitter neurodegeneration with brain iron accumulation 5
- c.436+3G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.437-6C>A Single submitter neurodegeneration with brain iron accumulation 5
- c.516+26G>A Single submitter neurodegeneration with brain iron accumulation 5
- c.516+3G>C Single submitter neurodegeneration with brain iron accumulation 5
- c.725+12G>T Single submitter neurodegeneration with brain iron accumulation 5
- c.725+5_725+32del Single submitter neurodegeneration with brain iron accumulation 5
- c.725+6C>T Single submitter neurodegeneration with brain iron accumulation 5
- c.973+5G>A Single submitter
- c.973+6T>C Single submitter neurodegeneration with brain iron accumulation 5
- c.974-3C>G Single submitter
- p.Ala276= Single submitter neurodegeneration with brain iron accumulation 5
- p.Ala276Pro Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Ala298Val Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Ala304Val Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Ala347fs Single submitter
- p.Arg122Cys Single submitter neurodegeneration with brain iron accumulation 5
- p.Arg122His Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg141Gly Single submitter ⚠
- p.Arg232Leu Single submitter intellectual disability ⚠
- p.Arg270His Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg273His Single submitter ⚠
- p.Arg274His Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg279Cys Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg279Leu Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Arg86Leu Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Asn131Ser Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Asn319Ile Single submitter ⚠
- p.Asp130Glu Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Asp173Asn Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Asp359del Single submitter neurodegeneration with brain iron accumulation 5
- p.Asp359Tyr Single submitter ⚠
- p.Asp83Tyr Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Cys327Gly Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Cys327Trp Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Cys355fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Cys355Gly Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Gln202His Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Gln223His Single submitter ⚠
- p.Gln294Arg Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Glu346Lys Single submitter Inborn genetic diseases ⚠
- p.Gly167Asp Single submitter Inborn genetic diseases
- p.Gly288Arg Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Gly313Arg Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Gly313Ser Single submitter neurodegeneration with brain iron accumulation 5
- p.Gly313Val Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Gly330_Thr331insGly Single submitter
- p.Gly330Arg Single submitter migraine, familial hemiplegic, 1 ⚠
- p.Gly330Glu Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Gly341Arg Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.His112Arg Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.His112Gln Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.His164Tyr Single submitter
- p.His247= Single submitter neurodegeneration with brain iron accumulation 5
- p.His247Gln Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.His333Gln Single submitter WDR45-related disorder ⚠
- p.Ile195Arg Single submitter ⚠
- p.Ile195Val Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Ile324del Single submitter
- p.Leu106Pro Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Leu135Val Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Leu169Pro Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Leu252Phe Single submitter ⚠
- p.Leu252Pro Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Leu97Arg Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Lys114Met Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Lys134Glu Single submitter ⚠
- p.Lys258_His262del Single submitter neurodegeneration with brain iron accumulation 5
- p.Lys258Thr Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Lys282= Single submitter neurodegeneration with brain iron accumulation 5
- p.Lys282Met Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Lys318Gln Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Lys89Asn Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Met110Thr Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Met286Val Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Phe101Leu Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Phe128Leu Single submitter Inborn genetic diseases ⚠
- p.Phe161Ser Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Phe220Leu Single submitter ⚠
- p.Ser168Cys Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Ser193Arg Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Ser193Cys Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Ser211Phe Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Ser249Ala Single submitter ⚠
- p.Ser249Tyr Single submitter ⚠
- p.Thr187Met Single submitter ⚠
- p.Thr205= Single submitter
- p.Thr222Lys Single submitter ⚠
- p.Thr235Ile Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Thr260_His262del Single submitter
- p.Thr260fs Single submitter neurodegeneration with brain iron accumulation 5
- p.Thr301Ser Single submitter neurodegeneration with brain iron accumulation 5
- p.Thr338Ala Single submitter neurodegeneration with brain iron accumulation 5
- p.Val105Met Single submitter ⚠
- p.Val125Leu Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Val172Met Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Val198Met Single submitter ⚠
- p.Val291Met Single submitter ⚠
- p.Val320_Asn321del Single submitter neurodegeneration with brain iron accumulation 5
- p.Val320Ile Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Val323Asp Single submitter neurodegeneration with brain iron accumulation 5 ⚠
- p.Val328Ala Single submitter Inborn genetic diseases ⚠
- c.973+5G>C No assertion criteria WDR45-related disorder