RAB27A — 333 ClinVar variants
All ClinVar germline RAB27A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
28 Pathogenic · 7 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 16 Conflicting · 29 Benign · 4 Benign/Likely benign · 89 Likely benign · 140 Uncertain significance
Full RAB27A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RAB27A p.Ala87Pro
Conflicting
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Ala87Val
Conflicting
Single submitter
autoinflammatory syndrome
-
RAB27A p.Arg187Gln
Conflicting
Single submitter
RAB27A-related disorder
-
RAB27A p.Arg82His
Conflicting
Single submitter
Inborn genetic diseases
-
RAB27A p.Gln140Glu
Conflicting
Single submitter
autoinflammatory syndrome
-
RAB27A p.Gln71His
Conflicting
Single submitter
Inborn genetic diseases
-
RAB27A p.Ile149Val
Conflicting
Single submitter
Inborn genetic diseases
-
RAB27A p.Leu70Pro
Conflicting
Single submitter
RAB27A-related disorder
-
RAB27A p.Thr207Met
Conflicting
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Thr41Ala
Conflicting
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Val198Ala
Conflicting
Single submitter
Griscelli syndrome type 2
Predictors lean, ClinVar uncertain 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RAB27A p.Ala152Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAB27A p.Ala205Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAB27A p.Ala92Val
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
RAB27A p.Arg184Gln
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Asn103Asp
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Asn166Ser
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Gly19Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAB27A p.Gly4Val
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Ile114Val
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Leu13Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAB27A p.Met119Val
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Met176Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAB27A p.Pro158Arg
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Pro58Ser
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
RAB27A p.Trp113Arg
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Tyr6Cys
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
RAB27A p.Val142Leu
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Ala14Asp
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Ala150Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Ala218Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- RAB27A p.Ala218Ser Uncertain significance Single submitter
-
RAB27A p.Ala218Thr
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Ala87Thr
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Arg111Ser
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Arg200Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Asn112Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Asn166Lys
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Asp17Asn
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Asp190Asn
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Asp31Asn
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Cys221Tyr
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Gln140His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Gln209His
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Glu212Asp
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Gly94Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Ile174Val
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Ile181Lys
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Leu177Phe
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Lys144Arg
Uncertain significance
Single submitter
Griscelli syndrome type 2
- RAB27A p.Lys33Arg Uncertain significance Single submitter
-
RAB27A p.Lys49Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Phe38Leu
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Phe46Ile
Uncertain significance
Single submitter
autoinflammatory syndrome
-
RAB27A p.Phe99Leu
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Pro58Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Ser106Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Ser115Asn
Uncertain significance
Single submitter
Griscelli syndrome type 2
- RAB27A p.Ser163Gly Uncertain significance Single submitter
-
RAB27A p.Ser83Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Thr102Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Thr23Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Thr85Met
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Thr86Ile
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Tyr122Phe
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Tyr29Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Val142Ala
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Val198Leu
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Val198Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Val199Ala
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Val199Glu
Uncertain significance
Single submitter
autoinflammatory syndrome
Predictors split 14
The independent predictors disagree with each other — read with care.
-
RAB27A p.Ala173Gly
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Arg187Trp
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
RAB27A p.Asp59His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAB27A p.Gly156Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAB27A p.Phe12Ser
Uncertain significance
Multiple submitters
Griscelli syndrome type 2
-
RAB27A p.Ala61Pro
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Asn103His
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Asp127Asn
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Asp91Glu
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Cys123Tyr
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Cys188Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAB27A p.Gly63Cys
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Ile128Thr
Uncertain significance
Single submitter
Griscelli syndrome type 2
-
RAB27A p.Ser115Arg
Likely pathogenic
No assertion criteria
Griscelli syndrome type 2
All RAB27A variants
Pathogenic 28
- c.239+1G>T Multiple submitters autoinflammatory syndrome
- p.Arg184Ter Multiple submitters autoinflammatory syndrome
- p.Asn112fs Multiple submitters Griscelli syndrome type 2
- p.Gln118Ter Multiple submitters Griscelli syndrome type 2
- p.Gln172fs Multiple submitters Griscelli syndrome type 2
- p.Pro126fs Multiple submitters Inborn genetic diseases
- p.Tyr6_Asp7delinsTer Multiple submitters Griscelli syndrome type 2
- c.240-2A>C Single submitter Griscelli syndrome type 2
- c.240-5_242del Single submitter Griscelli syndrome type 2
- c.467+1G>T Single submitter Griscelli syndrome type 2
- c.467+3_467+6del Single submitter Griscelli syndrome type 2
- p.Ala148fs Single submitter Griscelli syndrome type 2
- p.Arg50fs Single submitter Griscelli syndrome type 2
- p.Arg80Thr Single submitter Griscelli syndrome type 2
- p.Glu147Ter Single submitter Griscelli syndrome type 2
- p.Glu213fs Single submitter Griscelli syndrome type 2
- p.Leu84fs Single submitter Griscelli syndrome type 2
- p.Lys134Glu Single submitter Griscelli syndrome type 2
- p.Lys154Ter Single submitter Griscelli syndrome type 2
- p.Phe46Cys Single submitter Griscelli syndrome type 2
- p.Ser18fs Single submitter Griscelli syndrome type 2
- p.Tyr155Ter Single submitter Griscelli syndrome type 2
- c.467+5G>A No assertion criteria Griscelli syndrome type 2
- p.Ala152Pro No assertion criteria Griscelli syndrome type 2
- p.Arg200Ter No assertion criteria Griscelli syndrome type 2
- p.Glu196fs No assertion criteria RAB27A-related disorder
- p.Leu130Pro No assertion criteria Griscelli syndrome type 2
- p.Trp73Gly No assertion criteria Griscelli syndrome type 2
Pathogenic/Likely pathogenic 7
- c.467+1G>C Multiple submitters Griscelli syndrome type 2
- p.Ala76Val Multiple submitters RAB27A-related disorder
- p.Arg141fs Multiple submitters RAB27A-related disorder
- p.Arg82Cys Multiple submitters autoinflammatory syndrome
- p.Gln172Ter Multiple submitters Griscelli syndrome type 2
- p.Ile128fs Multiple submitters Griscelli syndrome type 2
- p.Lys134fs Multiple submitters autoinflammatory syndrome
Likely pathogenic 20
- c.240-47_240delinsTATTTCATACGAAATTTATA Multiple submitters Griscelli syndrome type 2
- p.Asp74His Multiple submitters Griscelli syndrome type 2
- p.Tyr159Cys Multiple submitters Griscelli syndrome type 2
- c.154del Single submitter Griscelli syndrome type 2
- c.239+3A>G Single submitter Griscelli syndrome type 2
- c.240-1_240del Single submitter RAB27A-related disorder
- p.Ala87Ser Single submitter Griscelli syndrome type 2
- p.Arg141_Val142delinsIle Single submitter autoinflammatory syndrome
- p.Gly19fs Single submitter RAB27A-related disorder
- p.Gly77Arg Single submitter Griscelli syndrome type 2
- p.His120fs Single submitter RAB27A-related disorder
- p.Ile170fs Single submitter Griscelli syndrome type 2
- p.Thr30fs Single submitter
- p.Thr41Pro Single submitter Griscelli syndrome type 2
- p.Tyr159His Single submitter Griscelli syndrome type 2
- p.Val143Ala Single submitter Griscelli syndrome type 2
- p.Val143Met Single submitter Griscelli syndrome type 2
- p.Ser106fs No assertion criteria Griscelli syndrome type 2
- p.Ser115Arg No assertion criteria Griscelli syndrome type 2 ⚠
- p.Trp73Arg No assertion criteria Griscelli syndrome type 2
Conflicting classifications of pathogenicity 16
- c.153+10A>G Single submitter autoinflammatory syndrome
- c.344-10A>G Single submitter Griscelli syndrome type 2
- p.Ala87Pro Single submitter Griscelli syndrome type 2 ⚠
- p.Ala87Val Single submitter autoinflammatory syndrome ⚠
- p.Arg187Gln Single submitter RAB27A-related disorder ⚠
- p.Arg82His Single submitter Inborn genetic diseases ⚠
- p.Gln140Glu Single submitter autoinflammatory syndrome ⚠
- p.Gln71His Single submitter Inborn genetic diseases ⚠
- p.Ile149Val Single submitter Inborn genetic diseases ⚠
- p.Leu151= Single submitter autoinflammatory syndrome
- p.Leu70Pro Single submitter RAB27A-related disorder ⚠
- p.Met1Thr Single submitter autoinflammatory syndrome
- p.Ser56= Single submitter Griscelli syndrome type 2
- p.Thr207Met Single submitter Griscelli syndrome type 2 ⚠
- p.Thr41Ala Single submitter Griscelli syndrome type 2 ⚠
- p.Val198Ala Single submitter Griscelli syndrome type 2 ⚠
Benign 29
- c.153+94G>A Multiple submitters
- c.154-40G>C Multiple submitters
- c.*1392A>C Multiple submitters Griscelli syndrome type 2
- c.*1418T>A Multiple submitters Griscelli syndrome type 2
- c.*1427G>A Multiple submitters Griscelli syndrome type 2
- c.*1594A>G Multiple submitters Griscelli syndrome type 2
- c.*1647T>G Multiple submitters Griscelli syndrome type 2
- c.*1662A>T Multiple submitters Griscelli syndrome type 2
- c.*1742A>G Multiple submitters Griscelli syndrome type 2
- c.*1926T>A Multiple submitters Griscelli syndrome type 2
- c.*1931T>C Multiple submitters Griscelli syndrome type 2
- c.*2007G>A Multiple submitters Griscelli syndrome type 2
- c.*2067C>G Multiple submitters Griscelli syndrome type 2
- c.*852C>T Multiple submitters Griscelli syndrome type 2
- c.*936C>A Multiple submitters Griscelli syndrome type 2
- c.*949A>G Multiple submitters Griscelli syndrome type 2
- c.154-245T>G Single submitter
- c.343+293G>A Single submitter
- c.344-183T>C Single submitter
- c.344-276G>A Single submitter
- c.468-256T>A Single submitter
- c.-142-5A>G Single submitter Griscelli syndrome type 2
- c.*1013T>C Single submitter Griscelli syndrome type 2
- c.*2349A>G Single submitter Griscelli syndrome type 2
- c.*387A>G Single submitter Griscelli syndrome type 2
- c.*472A>C Single submitter Griscelli syndrome type 2
- c.*731G>T Single submitter Griscelli syndrome type 2
- c.*842G>A Single submitter Griscelli syndrome type 2
- p.Asn133= Single submitter Griscelli syndrome type 2
Benign/Likely benign 4
- c.468-3C>T Multiple submitters autoinflammatory syndrome
- c.*14C>T Multiple submitters Griscelli syndrome type 2
- p.Ser56Asn Multiple submitters autoinflammatory syndrome
- p.Val198= Multiple submitters autoinflammatory syndrome
Likely benign 89
- c.240-21A>G Multiple submitters
- c.343+33A>G Multiple submitters
- c.468-4C>T Multiple submitters Griscelli syndrome type 2
- c.*2160A>G Multiple submitters Griscelli syndrome type 2
- c.*2216A>G Multiple submitters Griscelli syndrome type 2
- p.Ala55= Multiple submitters Griscelli syndrome type 2
- p.Ala92= Multiple submitters Griscelli syndrome type 2
- p.Ile114= Multiple submitters Griscelli syndrome type 2
- p.Leu117= Multiple submitters Griscelli syndrome type 2
- p.Ser135Asn Multiple submitters Inborn genetic diseases
- p.Val142= Multiple submitters
- c.153+12A>T Single submitter Griscelli syndrome type 2
- c.153+14C>A Single submitter Griscelli syndrome type 2
- c.153+20A>C Single submitter Griscelli syndrome type 2
- c.153+20A>G Single submitter Griscelli syndrome type 2
- c.154-6T>A Single submitter Griscelli syndrome type 2
- c.154-7G>A Single submitter Griscelli syndrome type 2
- c.154-7G>C Single submitter Griscelli syndrome type 2
- c.239+10C>G Single submitter Griscelli syndrome type 2
- c.239+15G>C Single submitter Griscelli syndrome type 2
- c.239+19T>C Single submitter Griscelli syndrome type 2
- c.239+19T>G Single submitter Griscelli syndrome type 2
- c.239+9T>A Single submitter Griscelli syndrome type 2
- c.239+9T>C Single submitter Griscelli syndrome type 2
- c.240-14T>A Single submitter Griscelli syndrome type 2
- c.240-15C>A Single submitter Griscelli syndrome type 2
- c.240-16G>A Single submitter Griscelli syndrome type 2
- c.240-17T>G Single submitter Griscelli syndrome type 2
- c.240-19T>A Single submitter Griscelli syndrome type 2
- c.240-5C>G Single submitter Griscelli syndrome type 2
- c.240-5C>T Single submitter Griscelli syndrome type 2
- c.240-6T>G Single submitter Griscelli syndrome type 2
- c.240-8G>A Single submitter Griscelli syndrome type 2
- c.240-9T>C Single submitter Griscelli syndrome type 2
- c.343+10A>G Single submitter Griscelli syndrome type 2
- c.343+11T>C Single submitter Griscelli syndrome type 2
- c.343+17C>T Single submitter Griscelli syndrome type 2
- c.344-10A>C Single submitter Griscelli syndrome type 2
- c.344-13C>G Single submitter Griscelli syndrome type 2
- c.344-18A>G Single submitter Griscelli syndrome type 2
- c.344-7T>C Single submitter Griscelli syndrome type 2
- c.468-12T>C Single submitter
- c.468-14T>C Single submitter Griscelli syndrome type 2
- c.468-16T>C Single submitter Griscelli syndrome type 2
- c.468-25_468-14del Single submitter Griscelli syndrome type 2
- c.468-7C>A Single submitter Griscelli syndrome type 2
- c.-142-65C>G Single submitter Griscelli syndrome type 2
- c.-142-86A>T Single submitter Griscelli syndrome type 2
- c.*132G>A Single submitter Griscelli syndrome type 2
- c.*1493T>A Single submitter Griscelli syndrome type 2
- c.*668A>G Single submitter Griscelli syndrome type 2
- c.*725C>T Single submitter Griscelli syndrome type 2
- p.Ala173= Single submitter Griscelli syndrome type 2
- p.Ala87= Single submitter Griscelli syndrome type 2
- p.Arg111= Single submitter Griscelli syndrome type 2
- p.Arg187= Single submitter Griscelli syndrome type 2
- p.Arg50= Single submitter Griscelli syndrome type 2
- p.Arg64= Single submitter Griscelli syndrome type 2
- p.Asn103= Single submitter Griscelli syndrome type 2
- p.Asn109= Single submitter Griscelli syndrome type 2
- p.Asp139= Single submitter Griscelli syndrome type 2
- p.Asp31= Single submitter Griscelli syndrome type 2
- p.Asp5= Single submitter Griscelli syndrome type 2
- p.Glu146= Single submitter Griscelli syndrome type 2
- p.Gly132= Single submitter Griscelli syndrome type 2
- p.Gly19= Single submitter Griscelli syndrome type 2
- p.Gly32= Single submitter Griscelli syndrome type 2
- p.Gly65= Single submitter Griscelli syndrome type 2
- p.His204= Single submitter Griscelli syndrome type 2
- p.Ile39= Single submitter Griscelli syndrome type 2
- p.Leu130= Single submitter Griscelli syndrome type 2
- p.Leu178= Single submitter Griscelli syndrome type 2
- p.Leu84= Single submitter Griscelli syndrome type 2
- p.Leu96= Single submitter Griscelli syndrome type 2
- p.Leu97= Single submitter Griscelli syndrome type 2
- p.Lys11= Single submitter Griscelli syndrome type 2
- p.Lys49= Single submitter Griscelli syndrome type 2
- p.Pro158= Single submitter Griscelli syndrome type 2
- p.Pro58= Single submitter Griscelli syndrome type 2
- p.Ser115= Single submitter Griscelli syndrome type 2
- p.Ser163= Single submitter Griscelli syndrome type 2
- p.Thr207= Single submitter Griscelli syndrome type 2
- p.Thr41= Single submitter Griscelli syndrome type 2
- p.Thr75= Single submitter Griscelli syndrome type 2
- p.Thr85= Single submitter Griscelli syndrome type 2
- p.Tyr29= Single submitter Griscelli syndrome type 2
- p.Tyr53= Single submitter Griscelli syndrome type 2
- p.Val199= Single submitter Griscelli syndrome type 2
- p.Val42= Single submitter Griscelli syndrome type 2
Uncertain significance 140
- c.-3A>C Multiple submitters autoinflammatory syndrome
- c.-93G>T Multiple submitters Griscelli syndrome type 2
- c.*1904A>T Multiple submitters Griscelli syndrome type 2
- c.*2415T>C Multiple submitters Griscelli syndrome type 2
- p.Ala152Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala173Gly Multiple submitters Griscelli syndrome type 2 ⚠
- p.Ala205Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala92Val Multiple submitters autoinflammatory syndrome ⚠
- p.Arg184Gln Multiple submitters Griscelli syndrome type 2 ⚠
- p.Arg187Trp Multiple submitters autoinflammatory syndrome ⚠
- p.Asn103Asp Multiple submitters Griscelli syndrome type 2 ⚠
- p.Asn166Ser Multiple submitters Griscelli syndrome type 2 ⚠
- p.Asp59His Multiple submitters Inborn genetic diseases ⚠
- p.Gly156Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly19Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly4Val Multiple submitters Griscelli syndrome type 2 ⚠
- p.Ile114Val Multiple submitters Griscelli syndrome type 2 ⚠
- p.Ile181Met Multiple submitters autoinflammatory syndrome
- p.Ile44Val Multiple submitters autoinflammatory syndrome
- p.Leu13Val Multiple submitters Inborn genetic diseases ⚠
- p.Met119Val Multiple submitters Griscelli syndrome type 2 ⚠
- p.Met176Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe12Ser Multiple submitters Griscelli syndrome type 2 ⚠
- p.Pro158Arg Multiple submitters Griscelli syndrome type 2 ⚠
- p.Pro58Ser Multiple submitters autoinflammatory syndrome ⚠
- p.Trp113Arg Multiple submitters Griscelli syndrome type 2 ⚠
- p.Tyr6Cys Multiple submitters autoinflammatory syndrome ⚠
- p.Val142Leu Multiple submitters Griscelli syndrome type 2 ⚠
- c.239+4T>G Single submitter Griscelli syndrome type 2
- c.239+5G>C Single submitter Griscelli syndrome type 2
- c.240-9T>G Single submitter Griscelli syndrome type 2
- c.343+3_343+6del Single submitter Griscelli syndrome type 2
- c.343+3A>G Single submitter Griscelli syndrome type 2
- c.343+6del Single submitter Griscelli syndrome type 2
- c.467+4A>T Single submitter Griscelli syndrome type 2
- c.-142-110G>A Single submitter Griscelli syndrome type 2
- c.-142-46A>G Single submitter Griscelli syndrome type 2
- c.-142-84C>T Single submitter Griscelli syndrome type 2
- c.-23+13A>G Single submitter Griscelli syndrome type 2
- c.-23+1G>A Single submitter
- c.-58A>G Single submitter Griscelli syndrome type 2
- c.*1110A>G Single submitter Griscelli syndrome type 2
- c.*1156T>G Single submitter Griscelli syndrome type 2
- c.*1170T>G Single submitter Griscelli syndrome type 2
- c.*1172T>C Single submitter Griscelli syndrome type 2
- c.*121A>G Single submitter Griscelli syndrome type 2
- c.*1296T>G Single submitter Griscelli syndrome type 2
- c.*131C>T Single submitter Griscelli syndrome type 2
- c.*1473T>C Single submitter Griscelli syndrome type 2
- c.*1485G>A Single submitter Griscelli syndrome type 2
- c.*1546T>C Single submitter Griscelli syndrome type 2
- c.*1598A>G Single submitter Griscelli syndrome type 2
- c.*162G>C Single submitter Griscelli syndrome type 2
- c.*1669A>G Single submitter Griscelli syndrome type 2
- c.*1672T>C Single submitter Griscelli syndrome type 2
- c.*1678T>A Single submitter Griscelli syndrome type 2
- c.*1842C>T Single submitter Griscelli syndrome type 2
- c.*1863C>G Single submitter Griscelli syndrome type 2
- c.*1863C>T Single submitter Griscelli syndrome type 2
- c.*1878T>C Single submitter Griscelli syndrome type 2
- c.*1915A>T Single submitter Griscelli syndrome type 2
- c.*1919A>T Single submitter Griscelli syndrome type 2
- c.*2031C>T Single submitter Griscelli syndrome type 2
- c.*2135C>A Single submitter Griscelli syndrome type 2
- c.*2334C>A Single submitter Griscelli syndrome type 2
- c.*2343G>C Single submitter Griscelli syndrome type 2
- c.*28A>G Single submitter Griscelli syndrome type 2
- c.*370T>C Single submitter Griscelli syndrome type 2
- c.*388G>C Single submitter Griscelli syndrome type 2
- c.*415C>T Single submitter Griscelli syndrome type 2
- c.*429C>T Single submitter Griscelli syndrome type 2
- c.*457A>G Single submitter Griscelli syndrome type 2
- c.*561A>T Single submitter Griscelli syndrome type 2
- c.*595G>T Single submitter Griscelli syndrome type 2
- c.*723C>T Single submitter Griscelli syndrome type 2
- c.*730T>C Single submitter Griscelli syndrome type 2
- c.*814G>A Single submitter Griscelli syndrome type 2
- c.*854A>G Single submitter Griscelli syndrome type 2
- c.*858G>A Single submitter Griscelli syndrome type 2
- c.*9G>A Single submitter Griscelli syndrome type 2
- p.Ala14Asp Single submitter Griscelli syndrome type 2 ⚠
- p.Ala150Thr Single submitter Inborn genetic diseases ⚠
- p.Ala218Glu Single submitter Inborn genetic diseases ⚠
- p.Ala218Ser Single submitter ⚠
- p.Ala218Thr Single submitter Griscelli syndrome type 2 ⚠
- p.Ala61Pro Single submitter Griscelli syndrome type 2 ⚠
- p.Ala87Thr Single submitter Griscelli syndrome type 2 ⚠
- p.Arg111Gly Single submitter Griscelli syndrome type 2
- p.Arg111Ser Single submitter Griscelli syndrome type 2 ⚠
- p.Arg200Gln Single submitter Inborn genetic diseases ⚠
- p.Asn103His Single submitter Griscelli syndrome type 2 ⚠
- p.Asn112Asp Single submitter Inborn genetic diseases ⚠
- p.Asn166Lys Single submitter Griscelli syndrome type 2 ⚠
- p.Asp127Asn Single submitter Griscelli syndrome type 2 ⚠
- p.Asp17Asn Single submitter Griscelli syndrome type 2 ⚠
- p.Asp190Asn Single submitter Griscelli syndrome type 2 ⚠
- p.Asp31Asn Single submitter Griscelli syndrome type 2 ⚠
- p.Asp91Glu Single submitter Griscelli syndrome type 2 ⚠
- p.Cys123Tyr Single submitter Griscelli syndrome type 2 ⚠
- p.Cys188Arg Single submitter Inborn genetic diseases ⚠
- p.Cys221Tyr Single submitter Griscelli syndrome type 2 ⚠
- p.Gln140His Single submitter Inborn genetic diseases ⚠
- p.Gln209His Single submitter Griscelli syndrome type 2 ⚠
- p.Glu147del Single submitter Griscelli syndrome type 2
- p.Glu212Asp Single submitter Griscelli syndrome type 2 ⚠
- p.Gly203= Single submitter autoinflammatory syndrome
- p.Gly32Arg Single submitter Griscelli syndrome type 2
- p.Gly63Cys Single submitter Griscelli syndrome type 2 ⚠
- p.Gly94Ser Single submitter Inborn genetic diseases ⚠
- p.Ile128Thr Single submitter Griscelli syndrome type 2 ⚠
- p.Ile174Val Single submitter Griscelli syndrome type 2 ⚠
- p.Ile181Lys Single submitter Griscelli syndrome type 2 ⚠
- p.Leu177Phe Single submitter Griscelli syndrome type 2 ⚠
- p.Lys144Arg Single submitter Griscelli syndrome type 2 ⚠
- p.Lys33Arg Single submitter ⚠
- p.Lys49Glu Single submitter Inborn genetic diseases ⚠
- p.Met1Ile Single submitter Griscelli syndrome type 2
- p.Phe12Val Single submitter Griscelli syndrome type 2
- p.Phe38Leu Single submitter Griscelli syndrome type 2 ⚠
- p.Phe46Ile Single submitter autoinflammatory syndrome ⚠
- p.Phe99Leu Single submitter Griscelli syndrome type 2 ⚠
- p.Pro58Gln Single submitter Inborn genetic diseases ⚠
- p.Ser106Asn Single submitter Inborn genetic diseases ⚠
- p.Ser115Asn Single submitter Griscelli syndrome type 2 ⚠
- p.Ser163Gly Single submitter ⚠
- p.Ser83Cys Single submitter Inborn genetic diseases ⚠
- p.Thr102Ile Single submitter Inborn genetic diseases ⚠
- p.Thr207fs Single submitter Griscelli syndrome type 2
- p.Thr23Ser Single submitter Inborn genetic diseases ⚠
- p.Thr85Met Single submitter Griscelli syndrome type 2 ⚠
- p.Thr86Ile Single submitter Griscelli syndrome type 2 ⚠
- p.Tyr122Phe Single submitter Griscelli syndrome type 2 ⚠
- p.Tyr29Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr6_Ile10del Single submitter Griscelli syndrome type 2
- p.Val142Ala Single submitter Griscelli syndrome type 2 ⚠
- p.Val198Leu Single submitter Griscelli syndrome type 2 ⚠
- p.Val198Met Single submitter Inborn genetic diseases ⚠
- p.Val199Ala Single submitter Griscelli syndrome type 2 ⚠
- p.Val199Glu Single submitter autoinflammatory syndrome ⚠
- p.Val51= Single submitter Griscelli syndrome type 2