LPIN2 — 1015 ClinVar variants
All ClinVar germline LPIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 332 flagged for review →
22 Pathogenic · 6 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 57 Conflicting · 68 Benign · 31 Benign/Likely benign · 360 Likely benign · 451 Uncertain significance
Full LPIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 332
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LPIN2 p.Ala173Thr
Conflicting
Single submitter
autoinflammatory syndrome
-
LPIN2 p.Ala331Ser
Conflicting
Single submitter
autoinflammatory syndrome
-
LPIN2 p.Ala367Thr
Conflicting
Single submitter
Majeed syndrome
-
LPIN2 p.Ala370Val
Conflicting
Single submitter
Inborn genetic diseases
-
LPIN2 p.Arg736His
Conflicting
Single submitter
Majeed syndrome
-
LPIN2 p.Asp891Asn
Conflicting
Single submitter
autoinflammatory syndrome
-
LPIN2 p.Cys874Phe
Conflicting
Single submitter
autoinflammatory syndrome
-
LPIN2 p.Gly630Ser
Conflicting
Single submitter
autoinflammatory syndrome
-
LPIN2 p.Leu141Ser
Conflicting
Single submitter
Inborn genetic diseases
-
LPIN2 p.Pro149Leu
Conflicting
Single submitter
autoinflammatory syndrome
-
LPIN2 p.Pro378Ser
Conflicting
Single submitter
Inborn genetic diseases
-
LPIN2 p.Ser125Leu
Conflicting
Single submitter
Inborn genetic diseases
-
LPIN2 p.Ser42Thr
Conflicting
Single submitter
Majeed syndrome
-
LPIN2 p.Thr233Asn
Conflicting
Single submitter
Majeed syndrome
Predictors lean, ClinVar uncertain 289
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 289
-
LPIN2 p.Ala193Val
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ala195Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Ala252Val
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ala315Val
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ala372Val
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ala416Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Ala450Thr
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ala595Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Ala773Thr
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ala799Val
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Arg280Gln
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Arg299Gln
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Arg557Cys
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Arg671Cys
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Arg760Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Asn201Asp
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Asn724Ser
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Asp188Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Asp401His
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Asp653Asn
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Asp742Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Asp75Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Asp885Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Gln44Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Gln803His
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Glu211Gln
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Glu259Asp
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Glu351Gln
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Glu544Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Glu97Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Gly126Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Gly410Arg
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Gly428Ser
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Gly475Arg
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Gly481Ala
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.His220Arg
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.His220Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.His496Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.His629Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Ile118Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Ile69Thr
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ile794Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Leu256Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Leu438Phe
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Leu459Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Leu627Pro
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Leu856Arg
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Lys167Asn
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Lys191Arg
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Lys781Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Lys795Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Met358Ile
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Phe498Leu
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Phe52Val
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Pro121Ser
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Pro349Arg
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Pro373Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Pro378Leu
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Pro385Leu
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Pro539Arg
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Pro582Leu
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Pro594Leu
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Pro599Leu
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Pro800Leu
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Pro873Thr
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Pro875Leu
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ser166Gly
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ser303Arg
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Ser357Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Ser384Leu
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ser425Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Ser574Thr
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Ser605Leu
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Thr120Asn
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Thr130Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Thr233Ile
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Thr234Ile
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Thr26Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Thr320Ile
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Thr669Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Tyr19Cys
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Tyr728Cys
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Tyr819Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Val185Met
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Val382Ile
Uncertain significance
Multiple submitters
Majeed syndrome
-
LPIN2 p.Ala173Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Ala175Pro
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ala193Thr
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ala195Gly
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ala288Val
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ala361Val
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ala379Thr
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ala380Val
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ala522Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Ala595Ser
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ala647Val
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ala807Val
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ala871Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Ala871Val
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Arg197Gln
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Arg257Gly
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Arg517Cys
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Arg51Trp
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Arg671His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Arg745His
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Arg812Cys
Uncertain significance
Single submitter
Majeed syndrome
- LPIN2 p.Arg812His Uncertain significance Single submitter
-
LPIN2 p.Arg842Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Arg884Gln
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Asn295Ile
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Asn516Ser
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Asn792Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- LPIN2 p.Asp112Tyr Uncertain significance Single submitter
-
LPIN2 p.Asp117Ala
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Asp182Gly
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Asp182His
Uncertain significance
Single submitter
Inborn genetic diseases
- LPIN2 p.Asp282Gly Uncertain significance Single submitter
-
LPIN2 p.Asp338His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Asp383Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Asp401Glu
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Asp453Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Asp586Asn
Uncertain significance
Single submitter
autoinflammatory syndrome
-
LPIN2 p.Asp653Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- LPIN2 p.Asp689Val Uncertain significance Single submitter
-
LPIN2 p.Asp815Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- LPIN2 p.Asp82Asn Uncertain significance Single submitter
-
LPIN2 p.Asp893Gly
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Asp894Gly
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Cys181Tyr
Uncertain significance
Single submitter
Majeed syndrome
- LPIN2 p.Cys240Arg Uncertain significance Single submitter
-
LPIN2 p.Cys45Gly
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Cys874Tyr
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Gln354Arg
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Gln354His
Uncertain significance
Single submitter
Inborn genetic diseases
- LPIN2 p.Gln38Pro Uncertain significance Single submitter
-
LPIN2 p.Gln431Lys
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Gln532His
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Gln611Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Gln803Leu
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Glu178Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Glu208Lys
Uncertain significance
Single submitter
Majeed syndrome
- LPIN2 p.Glu248Gln Uncertain significance Single submitter
-
LPIN2 p.Glu312Gln
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Glu457Lys
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Glu576Lys
Uncertain significance
Single submitter
autoinflammatory syndrome
-
LPIN2 p.Glu614Lys
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Glu780Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Glu858Gly
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Glu85Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Gly192Glu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 28
The independent predictors disagree with each other — read with care.
-
LPIN2 p.Arg760Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Asp644Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Ile505Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Lys387Glu
Benign/Likely benign
Multiple submitters
autoinflammatory syndrome
-
LPIN2 p.Pro886Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LPIN2 p.Ser187Phe Uncertain significance Multiple submitters
-
LPIN2 p.Thr456Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Tyr817Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPIN2 p.Asn752Ser
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Gln24Arg
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Glu497Lys
Conflicting
Single submitter
Majeed syndrome
-
LPIN2 p.Gly448Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.His721Tyr
Conflicting
Single submitter
Majeed syndrome
-
LPIN2 p.Ile662Thr
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Leu473Ile
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Leu504Phe
Conflicting
Single submitter
autoinflammatory syndrome
-
LPIN2 p.Leu531Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- LPIN2 p.Phe730Leu Uncertain significance Single submitter
-
LPIN2 p.Phe786Leu
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Phe861Leu
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Phe872Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPIN2 p.Pro502Ala
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Pro508Ser
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Pro886Ala
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Ser555Cys
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Val659Met
Uncertain significance
Single submitter
Majeed syndrome
-
LPIN2 p.Val74Met
Uncertain significance
Single submitter
autoinflammatory syndrome
-
LPIN2 p.Val860Ala
Uncertain significance
Single submitter
Majeed syndrome
All LPIN2 variants
Pathogenic 22
- p.Arg157Ter Multiple submitters Majeed syndrome
- p.Ser46fs Multiple submitters Majeed syndrome
- c.2327+1G>C Single submitter Majeed syndrome
- p.Arg159Ter Single submitter Majeed syndrome
- p.Arg562Ter Single submitter Majeed syndrome
- p.Arg564fs Single submitter Majeed syndrome
- p.Asn833Ter Single submitter Majeed syndrome
- p.Gln532Ter Single submitter
- p.Glu259fs Single submitter
- p.Glu615Ter Single submitter Majeed syndrome
- p.Lys387fs Single submitter Majeed syndrome
- p.Lys709Ter Single submitter Majeed syndrome
- p.Phe147fs Single submitter Majeed syndrome
- p.Pro230fs Single submitter Majeed syndrome
- p.Pro348fs Single submitter Majeed syndrome
- p.Ser610fs Single submitter Majeed syndrome
- p.Ser642fs Single submitter Majeed syndrome
- p.Thr180_Cys181insTer Single submitter Majeed syndrome
- p.Thr233fs Single submitter Majeed syndrome
- p.Trp558Ter Single submitter Majeed syndrome
- p.Val325fs Single submitter Majeed syndrome
- p.Val658_Val659insTer Single submitter Majeed syndrome
Pathogenic/Likely pathogenic 6
- p.Arg197Ter Multiple submitters Majeed syndrome
- p.Arg280Ter Multiple submitters Majeed syndrome
- p.Arg517His Multiple submitters Majeed syndrome ⚠
- p.Asp402fs Multiple submitters autoinflammatory syndrome
- p.Lys781fs Multiple submitters LPIN2-related disorders
- p.Ser734Leu Multiple submitters autoinflammatory syndrome
Likely pathogenic 20
- c.1269-2A>G Multiple submitters Majeed syndrome
- c.1451_1456+6del Multiple submitters Majeed syndrome
- c.698+1G>A Multiple submitters Majeed syndrome
- c.699-2A>G Multiple submitters LPIN2-related disorders
- c.1168+1G>C Single submitter Majeed syndrome
- c.1794-2_1821del Single submitter Majeed syndrome
- c.1938+1G>A Single submitter Majeed syndrome
- c.2086_2087+39del Single submitter Majeed syndrome
- c.2443-2A>G Single submitter Majeed syndrome
- c.2546+1G>C Single submitter LPIN2-related disorders
- c.288+2T>G Single submitter Majeed syndrome
- c.289-1G>T Single submitter Majeed syndrome
- c.698+1del Single submitter Majeed syndrome
- c.699-1G>T Single submitter Majeed syndrome
- c.822+2T>G Single submitter Majeed syndrome
- p.Cys322fs Single submitter LPIN2-related disorders
- p.Ser386Ter Single submitter Majeed syndrome
- p.Ser60fs Single submitter LPIN2-related disorders
- p.Thr624fs Single submitter Majeed syndrome
- p.Val64fs Single submitter LPIN2-related disorders
Conflicting classifications of pathogenicity 57
- c.1168+6C>T Single submitter autoinflammatory syndrome
- c.1169-3C>T Single submitter autoinflammatory syndrome
- c.1268+6G>A Single submitter Majeed syndrome
- c.1456+4C>G Single submitter Majeed syndrome
- c.1621-7T>G Single submitter Majeed syndrome
- c.2088-10_2088-8del Single submitter Majeed syndrome
- c.2174+10C>T Single submitter Majeed syndrome
- c.2327+10C>T Single submitter Majeed syndrome
- c.2328-13A>T Single submitter Majeed syndrome
- c.2442+3_2442+6del Single submitter Majeed syndrome
- c.2443-9C>T Single submitter autoinflammatory syndrome
- c.590+8T>G Single submitter Majeed syndrome
- c.-10+1381T>C Single submitter Majeed syndrome
- c.*358G>A Single submitter autoinflammatory syndrome
- c.*438C>T Single submitter Majeed syndrome
- c.*90C>T Single submitter Majeed syndrome
- p.Ala172= Single submitter Majeed syndrome
- p.Ala173Thr Single submitter autoinflammatory syndrome ⚠
- p.Ala252= Single submitter Majeed syndrome
- p.Ala331Ser Single submitter autoinflammatory syndrome ⚠
- p.Ala367Thr Single submitter Majeed syndrome ⚠
- p.Ala370Val Single submitter Inborn genetic diseases ⚠
- p.Ala737= Single submitter Majeed syndrome
- p.Arg286= Single submitter autoinflammatory syndrome
- p.Arg736His Single submitter Majeed syndrome ⚠
- p.Asp465= Single submitter Majeed syndrome
- p.Asp468= Single submitter Majeed syndrome
- p.Asp815= Single submitter autoinflammatory syndrome
- p.Asp891Asn Single submitter autoinflammatory syndrome ⚠
- p.Cys874Phe Single submitter autoinflammatory syndrome ⚠
- p.Glu497Lys Single submitter Majeed syndrome ⚠
- p.Gly630Ser Single submitter autoinflammatory syndrome ⚠
- p.Gly692= Single submitter autoinflammatory syndrome
- p.Gly845= Single submitter Majeed syndrome
- p.His721Tyr Single submitter Majeed syndrome ⚠
- p.Leu141Ser Single submitter Inborn genetic diseases ⚠
- p.Leu18= Single submitter autoinflammatory syndrome
- p.Leu504Phe Single submitter autoinflammatory syndrome ⚠
- p.Leu641= Single submitter autoinflammatory syndrome
- p.Leu678= Single submitter autoinflammatory syndrome
- p.Leu707= Single submitter Majeed syndrome
- p.Leu791= Single submitter Majeed syndrome
- p.Leu856= Single submitter autoinflammatory syndrome
- p.Leu892= Single submitter autoinflammatory syndrome
- p.Lys696= Single submitter Inborn genetic diseases
- p.Pro149Leu Single submitter autoinflammatory syndrome ⚠
- p.Pro378= Single submitter autoinflammatory syndrome
- p.Pro378Ser Single submitter Inborn genetic diseases ⚠
- p.Pro572= Single submitter Majeed syndrome
- p.Pro599= Single submitter Majeed syndrome
- p.Pro875= Single submitter autoinflammatory syndrome
- p.Pro886= Single submitter autoinflammatory syndrome
- p.Ser125Leu Single submitter Inborn genetic diseases ⚠
- p.Ser42Thr Single submitter Majeed syndrome ⚠
- p.Ser449= Single submitter autoinflammatory syndrome
- p.Ser870= Single submitter autoinflammatory syndrome
- p.Thr233Asn Single submitter Majeed syndrome ⚠
Benign 68
- c.1168+40T>C Multiple submitters
- c.1168+44T>C Multiple submitters Majeed syndrome
- c.1169-88C>G Multiple submitters
- c.1456+29A>G Multiple submitters Majeed syndrome
- c.1620+208A>G Multiple submitters
- c.2327+66G>A Multiple submitters
- c.2328-132A>G Multiple submitters
- c.2442+87A>G Multiple submitters
- c.2443-276G>A Multiple submitters
- c.2546+51T>A Multiple submitters
- c.2547-47C>T Multiple submitters
- c.289-95_289-94del Multiple submitters
- c.590+6A>G Multiple submitters autoinflammatory syndrome
- c.591-79G>C Multiple submitters
- c.-10+1342C>G Multiple submitters Majeed syndrome
- c.-10+1343C>G Multiple submitters Majeed syndrome
- c.*1052T>C Multiple submitters Majeed syndrome
- c.*1502G>A Multiple submitters Majeed syndrome
- c.*2493C>G Multiple submitters Majeed syndrome
- c.*2934C>T Multiple submitters Majeed syndrome
- c.*3068A>T Multiple submitters Majeed syndrome
- c.*3139A>G Multiple submitters Majeed syndrome
- c.*557G>A Multiple submitters Majeed syndrome
- c.*657A>C Multiple submitters Majeed syndrome
- c.*685T>A Multiple submitters Majeed syndrome
- c.1168+146_1168+147del Single submitter
- c.1168+147del Single submitter
- c.1168+290C>T Single submitter
- c.1168+331A>G Single submitter
- c.1268+152C>T Single submitter
- c.1269-249C>T Single submitter
- c.1457-10del Single submitter Majeed syndrome
- c.1457-98_1457-96del Single submitter
- c.1711-220C>A Single submitter
- c.1793+170del Single submitter
- c.1793+242G>A Single submitter
- c.1793+259C>T Single submitter
- c.1793+260A>G Single submitter
- c.1794-140A>G Single submitter
- c.192+122dup Single submitter
- c.192+209A>G Single submitter
- c.193-288_193-286del Single submitter
- c.2175-253A>G Single submitter
- c.2328-6dup Single submitter Majeed syndrome
- c.2443-38C>A Single submitter
- c.288+63G>A Single submitter
- c.289-94del Single submitter
- c.590+127T>C Single submitter
- c.823-112C>T Single submitter
- c.823-203G>A Single submitter
- c.-10+1498C>T Single submitter
- c.-10+1522A>G Single submitter
- c.-9-128_-9-123del Single submitter
- c.-9-186A>T Single submitter
- c.+3C>T Single submitter
- c.*1082G>A Single submitter Majeed syndrome
- c.*1622T>C Single submitter Majeed syndrome
- c.*1691A>G Single submitter Majeed syndrome
- c.*2241T>C Single submitter Majeed syndrome
- c.*2822C>T Single submitter Majeed syndrome
- c.*2923C>T Single submitter Majeed syndrome
- c.*2946G>A Single submitter Majeed syndrome
- c.*3015T>C Single submitter Majeed syndrome
- c.*637G>A Single submitter Majeed syndrome
- c.*699A>G Single submitter Majeed syndrome
- c.*723A>G Single submitter Majeed syndrome
- c.*797T>G Single submitter Majeed syndrome
- c.*950A>C Single submitter Majeed syndrome
Benign/Likely benign 31
- c.1168+11G>C Multiple submitters Majeed syndrome
- c.1169-7del Multiple submitters autoinflammatory syndrome
- c.1169-7dup Multiple submitters Majeed syndrome
- c.1793+17C>T Multiple submitters Majeed syndrome
- c.1794-9G>A Multiple submitters Majeed syndrome
- c.2088-11C>T Multiple submitters Majeed syndrome
- c.2174+17_2174+18insAT Multiple submitters Majeed syndrome
- c.2327+11G>A Multiple submitters Majeed syndrome
- c.2547-11C>T Multiple submitters Majeed syndrome
- c.289-16C>T Multiple submitters Majeed syndrome
- c.698+20_698+22del Multiple submitters Majeed syndrome
- c.699-13_699-12dup Multiple submitters Majeed syndrome
- c.-10+1313C>T Multiple submitters Majeed syndrome
- c.*3C>T Multiple submitters Majeed syndrome
- c.*501T>C Multiple submitters Majeed syndrome
- c.*99C>T Multiple submitters Majeed syndrome
- p.Ala741= Multiple submitters autoinflammatory syndrome
- p.Asp40= Multiple submitters autoinflammatory syndrome
- p.Glu601Lys Multiple submitters autoinflammatory syndrome
- p.His49= Multiple submitters autoinflammatory syndrome
- p.Lys387Glu Multiple submitters autoinflammatory syndrome ⚠
- p.Pro348Leu Multiple submitters autoinflammatory syndrome
- p.Pro623Ser Multiple submitters autoinflammatory syndrome
- p.Pro626Ser Multiple submitters autoinflammatory syndrome
- p.Ser203Phe Multiple submitters autoinflammatory syndrome
- p.Ser337= Multiple submitters Majeed syndrome
- p.Ser574= Multiple submitters Majeed syndrome
- p.Ser579Pro Multiple submitters autoinflammatory syndrome
- p.Ser605= Multiple submitters autoinflammatory syndrome
- p.Ser772= Multiple submitters Majeed syndrome
- p.Thr265= Multiple submitters Majeed syndrome
Likely benign 360
Showing the top 300 by review status; the full set is in the sitemap.
- c.1268+13T>C Multiple submitters Majeed syndrome
- c.1268+16T>C Multiple submitters Majeed syndrome
- c.1457-21_1457-18del Multiple submitters Majeed syndrome
- c.1621-15G>A Multiple submitters Majeed syndrome
- c.1710+16G>A Multiple submitters Majeed syndrome
- c.1711-15A>C Multiple submitters Majeed syndrome
- c.1793+23G>A Multiple submitters
- c.1793+98G>A Multiple submitters
- c.1939-14T>C Multiple submitters Majeed syndrome
- c.1939-5A>G Multiple submitters Majeed syndrome
- c.2088-10G>A Multiple submitters Majeed syndrome
- c.2088-66C>G Multiple submitters
- c.2088-7T>G Multiple submitters Majeed syndrome
- c.2327+14A>G Multiple submitters Majeed syndrome
- c.2327+9C>A Multiple submitters Majeed syndrome
- c.2327+9C>T Multiple submitters Majeed syndrome
- c.2328-15_2328-10del Multiple submitters Majeed syndrome
- c.2328-20T>C Multiple submitters Majeed syndrome
- c.2442+129C>T Multiple submitters
- c.2443-14A>G Multiple submitters Majeed syndrome
- c.2443-4G>A Multiple submitters Majeed syndrome
- c.2546+145T>C Multiple submitters
- c.288+19C>T Multiple submitters Majeed syndrome
- c.288+54C>T Multiple submitters
- c.591-19T>G Multiple submitters Majeed syndrome
- c.591-20C>G Multiple submitters Majeed syndrome
- c.699-24C>T Multiple submitters
- c.822+171A>T Multiple submitters
- c.-9-94A>T Multiple submitters
- p.Ala196= Multiple submitters Majeed syndrome
- p.Ala370= Multiple submitters Majeed syndrome
- p.Ala452= Multiple submitters Majeed syndrome
- p.Ala595= Multiple submitters Majeed syndrome
- p.Ala600= Multiple submitters Majeed syndrome
- p.Arg671= Multiple submitters Majeed syndrome
- p.Arg828= Multiple submitters Majeed syndrome
- p.Asn366= Multiple submitters Majeed syndrome
- p.Asp607= Multiple submitters Majeed syndrome
- p.Cys474= Multiple submitters Majeed syndrome
- p.Gly184= Multiple submitters Majeed syndrome
- p.His629= Multiple submitters Majeed syndrome
- p.His652= Multiple submitters Majeed syndrome
- p.Phe809= Multiple submitters Majeed syndrome
- p.Phe861= Multiple submitters autoinflammatory syndrome
- p.Pro385= Multiple submitters Majeed syndrome
- p.Pro427= Multiple submitters Majeed syndrome
- p.Pro444= Multiple submitters Majeed syndrome
- p.Pro594= Multiple submitters Majeed syndrome
- p.Ser187= Multiple submitters Majeed syndrome
- p.Ser374= Multiple submitters Majeed syndrome
- p.Ser443= Multiple submitters Majeed syndrome
- p.Ser454= Multiple submitters Majeed syndrome
- p.Ser604= Multiple submitters Majeed syndrome
- p.Ser697= Multiple submitters Majeed syndrome
- p.Thr831= Multiple submitters Majeed syndrome
- p.Tyr495= Multiple submitters Majeed syndrome
- p.Val342= Multiple submitters Majeed syndrome
- c.1168+10del Single submitter Majeed syndrome
- c.1168+11_1168+14del Single submitter Majeed syndrome
- c.1168+120_1168+121del Single submitter
- c.1168+120C>T Single submitter
- c.1168+14T>C Single submitter Majeed syndrome
- c.1168+7G>A Single submitter Majeed syndrome
- c.1169-20C>G Single submitter Majeed syndrome
- c.1169-4del Single submitter Majeed syndrome
- c.1169-7T>G Single submitter Majeed syndrome
- c.1169-8_1169-6dup Single submitter
- c.1169-8_1169-7del Single submitter
- c.1169-8T>C Single submitter Majeed syndrome
- c.1268+11C>T Single submitter Majeed syndrome
- c.1268+154C>T Single submitter
- c.1268+224G>A Single submitter
- c.1268+7T>C Single submitter Majeed syndrome
- c.1268+9G>A Single submitter Majeed syndrome
- c.1269-18C>G Single submitter Majeed syndrome
- c.1269-8G>A Single submitter Majeed syndrome
- c.1456+12G>A Single submitter Majeed syndrome
- c.1456+15T>G Single submitter Majeed syndrome
- c.1456+170A>G Single submitter
- c.1456+8G>T Single submitter Majeed syndrome
- c.1457-10T>C Single submitter Majeed syndrome
- c.1457-20ATT[2] Single submitter Majeed syndrome
- c.1457-267dup Single submitter
- c.1550+11C>G Single submitter Majeed syndrome
- c.1550+11C>T Single submitter
- c.1550+14C>G Single submitter Majeed syndrome
- c.1550+8C>T Single submitter Majeed syndrome
- c.1551-5C>G Single submitter Majeed syndrome
- c.1620+13A>G Single submitter Majeed syndrome
- c.1620+16del Single submitter Majeed syndrome
- c.1620+8G>A Single submitter Majeed syndrome
- c.1620+8G>C Single submitter Majeed syndrome
- c.1621-16G>A Single submitter Majeed syndrome
- c.1621-18C>G Single submitter
- c.1621-203_1621-193dup Single submitter
- c.1621-4T>G Single submitter Majeed syndrome
- c.1621-5_1621-4insCAC Single submitter Majeed syndrome
- c.1621-5T>C Single submitter Majeed syndrome
- c.1621-9T>G Single submitter Majeed syndrome
- c.1710+15G>C Single submitter Majeed syndrome
- c.1710+19A>G Single submitter Majeed syndrome
- c.1710+218G>A Single submitter
- c.1710+7G>A Single submitter Majeed syndrome
- c.1710+7G>C Single submitter Majeed syndrome
- c.1710+8A>T Single submitter Majeed syndrome
- c.1710+9C>A Single submitter Majeed syndrome
- c.1711-11T>C Single submitter Majeed syndrome
- c.1711-16C>T Single submitter Majeed syndrome
- c.1711-97A>C Single submitter
- c.1711-9C>G Single submitter Majeed syndrome
- c.1793+10C>T Single submitter Majeed syndrome
- c.1793+15C>T Single submitter Majeed syndrome
- c.1793+18T>C Single submitter Majeed syndrome
- c.1793+268C>T Single submitter
- c.1793+270A>T Single submitter
- c.1794-11A>T Single submitter Majeed syndrome
- c.1794-12A>C Single submitter Majeed syndrome
- c.1794-12A>G Single submitter Majeed syndrome
- c.1794-14C>T Single submitter Majeed syndrome
- c.1794-5A>T Single submitter Majeed syndrome
- c.192+10C>G Single submitter Majeed syndrome
- c.192+12C>G Single submitter
- c.192+16G>T Single submitter Majeed syndrome
- c.193-14dup Single submitter Majeed syndrome
- c.193-14T>G Single submitter Majeed syndrome
- c.193-18A>T Single submitter Majeed syndrome
- c.193-228G>A Single submitter
- c.193-7C>T Single submitter Majeed syndrome
- c.193-93G>C Single submitter
- c.193-9C>A Single submitter Majeed syndrome
- c.193-9C>T Single submitter
- c.1938+10G>A Single submitter Majeed syndrome
- c.1938+11C>T Single submitter Majeed syndrome
- c.1938+15A>G Single submitter Majeed syndrome
- c.1938+16T>C Single submitter Majeed syndrome
- c.1938+17_1938+18del Single submitter Majeed syndrome
- c.1939-159T>C Single submitter
- c.1939-15dup Single submitter Majeed syndrome
- c.1939-16T>C Single submitter
- c.1939-19T>G Single submitter Majeed syndrome
- c.1939-2del Single submitter Majeed syndrome
- c.2087+10A>G Single submitter Majeed syndrome
- c.2087+18G>C Single submitter Majeed syndrome
- c.2087+9A>C Single submitter
- c.2087+9A>G Single submitter Majeed syndrome
- c.2088-10dup Single submitter Majeed syndrome
- c.2088-13A>G Single submitter Majeed syndrome
- c.2088-229G>A Single submitter
- c.2088-8C>A Single submitter Majeed syndrome
- c.2088-9T>C Single submitter Majeed syndrome
- c.2174+11T>A Single submitter Majeed syndrome
- c.2174+12C>T Single submitter Majeed syndrome
- c.2174+14C>T Single submitter Majeed syndrome
- c.2174+17C>T Single submitter Majeed syndrome
- c.2174+18G>A Single submitter Majeed syndrome
- c.2174+218_2174+219del Single submitter
- c.2174+8C>T Single submitter Majeed syndrome
- c.2175-12G>C Single submitter Majeed syndrome
- c.2175-12G>T Single submitter Majeed syndrome
- c.2175-13T>C Single submitter Majeed syndrome
- c.2175-14G>T Single submitter Majeed syndrome
- c.2175-163G>T Single submitter
- c.2175-299T>C Single submitter
- c.2175-7C>T Single submitter Majeed syndrome
- c.2328-6T>A Single submitter Majeed syndrome
- c.2442+11C>A Single submitter Majeed syndrome
- c.2442+12C>T Single submitter Majeed syndrome
- c.2442+13T>C Single submitter Majeed syndrome
- c.2442+14G>C Single submitter Majeed syndrome
- c.2442+19C>G Single submitter Majeed syndrome
- c.2442+20T>C Single submitter Majeed syndrome
- c.2442+8T>C Single submitter Majeed syndrome
- c.2442+8T>G Single submitter Majeed syndrome
- c.2443-22C>T Single submitter
- c.2546+10T>A Single submitter Majeed syndrome
- c.2546+10T>C Single submitter Majeed syndrome
- c.2546+13T>C Single submitter Majeed syndrome
- c.2546+14C>T Single submitter Majeed syndrome
- c.2546+16G>C Single submitter Majeed syndrome
- c.2547-14A>G Single submitter Majeed syndrome
- c.2547-15C>T Single submitter Majeed syndrome
- c.2547-16C>T Single submitter Majeed syndrome
- c.2547-19dup Single submitter Majeed syndrome
- c.2547-5_2547-4del Single submitter Majeed syndrome
- c.288+10C>T Single submitter Majeed syndrome
- c.288+13G>C Single submitter Majeed syndrome
- c.289-12A>G Single submitter Majeed syndrome
- c.289-18T>C Single submitter Majeed syndrome
- c.289-20C>T Single submitter Majeed syndrome
- c.289-6_289-4del Single submitter Majeed syndrome
- c.289-6C>T Single submitter Majeed syndrome
- c.289-96_289-94del Single submitter
- c.590+10_590+11del Single submitter Majeed syndrome
- c.590+11C>T Single submitter Majeed syndrome
- c.590+7C>T Single submitter Majeed syndrome
- c.590+8TC[3] Single submitter Majeed syndrome
- c.590+9C>A Single submitter Majeed syndrome
- c.590+9C>G Single submitter Majeed syndrome
- c.591-11C>T Single submitter Majeed syndrome
- c.591-12T>C Single submitter Majeed syndrome
- c.698+13G>T Single submitter Majeed syndrome
- c.698+14A>G Single submitter Majeed syndrome
- c.698+15A>G Single submitter Majeed syndrome
- c.698+19dup Single submitter
- c.699-19_699-16del Single submitter Majeed syndrome
- c.699-23GT[2] Single submitter Majeed syndrome
- c.822+18C>T Single submitter Majeed syndrome
- c.822+20T>C Single submitter Majeed syndrome
- c.822+304A>G Single submitter
- c.822+5T>C Single submitter
- c.822+8G>A Single submitter Majeed syndrome
- c.823-15A>G Single submitter Majeed syndrome
- c.-4A>G Single submitter
- c.*1077C>G Single submitter Majeed syndrome
- c.*1147A>G Single submitter Majeed syndrome
- c.*1179G>A Single submitter Majeed syndrome
- c.*12_*15del Single submitter
- c.*151G>A Single submitter Majeed syndrome
- c.*1586G>A Single submitter Majeed syndrome
- c.*158G>A Single submitter Majeed syndrome
- c.*2076C>A Single submitter Majeed syndrome
- c.*2103G>A Single submitter Majeed syndrome
- c.*2390C>T Single submitter Majeed syndrome
- c.*2553G>A Single submitter Majeed syndrome
- c.*850G>A Single submitter Majeed syndrome
- p.Ala202= Single submitter Majeed syndrome
- p.Ala239= Single submitter Majeed syndrome
- p.Ala372= Single submitter Majeed syndrome
- p.Ala451= Single submitter Majeed syndrome
- p.Ala499= Single submitter Majeed syndrome
- p.Ala524= Single submitter Majeed syndrome
- p.Ala717= Single submitter Majeed syndrome
- p.Ala799= Single submitter Majeed syndrome
- p.Arg158= Single submitter Majeed syndrome
- p.Arg257= Single submitter Majeed syndrome
- p.Arg280= Single submitter Majeed syndrome
- p.Arg299= Single submitter Majeed syndrome
- p.Asn509= Single submitter Majeed syndrome
- p.Asn70= Single submitter Majeed syndrome
- p.Asn83= Single submitter Majeed syndrome
- p.Asp225= Single submitter Majeed syndrome
- p.Asp453= Single submitter Majeed syndrome
- p.Asp586= Single submitter Majeed syndrome
- p.Asp620= Single submitter Majeed syndrome
- p.Asp885= Single submitter
- p.Asp894= Single submitter Majeed syndrome
- p.Cys827= Single submitter Majeed syndrome
- p.Gln194= Single submitter Majeed syndrome
- p.Gln237= Single submitter Majeed syndrome
- p.Gln24= Single submitter Majeed syndrome
- p.Gln354= Single submitter Majeed syndrome
- p.Gln38= Single submitter Majeed syndrome
- p.Gln396= Single submitter Majeed syndrome
- p.Glu144= Single submitter Majeed syndrome
- p.Glu170= Single submitter Majeed syndrome
- p.Glu170Asp Single submitter Inborn genetic diseases
- p.Glu232= Single submitter Majeed syndrome
- p.Glu375= Single submitter Majeed syndrome
- p.Glu780= Single submitter Majeed syndrome
- p.Glu889= Single submitter Majeed syndrome
- p.Glu91= Single submitter
- p.Gly29= Single submitter Majeed syndrome
- p.Gly440= Single submitter Majeed syndrome
- p.Gly609= Single submitter Majeed syndrome
- p.Gly654= Single submitter Majeed syndrome
- p.Gly701= Single submitter Majeed syndrome
- p.Gly708= Single submitter Majeed syndrome
- p.Gly727= Single submitter Majeed syndrome
- p.Gly739= Single submitter Majeed syndrome
- p.Gly761= Single submitter Majeed syndrome
- p.Gly9= Single submitter Majeed syndrome
- p.His139= Single submitter Majeed syndrome
- p.His496= Single submitter Majeed syndrome
- p.Ile137= Single submitter Majeed syndrome
- p.Ile34= Single submitter Majeed syndrome
- p.Ile528= Single submitter Majeed syndrome
- p.Ile662= Single submitter Majeed syndrome
- p.Ile685= Single submitter Majeed syndrome
- p.Ile723= Single submitter
- p.Ile738= Single submitter Majeed syndrome
- p.Ile887= Single submitter Majeed syndrome
- p.Leu346= Single submitter Majeed syndrome
- p.Leu418= Single submitter Majeed syndrome
- p.Leu438= Single submitter Majeed syndrome
- p.Leu471= Single submitter Majeed syndrome
- p.Leu473= Single submitter Majeed syndrome
- p.Leu531= Single submitter Majeed syndrome
- p.Leu571= Single submitter Majeed syndrome
- p.Leu627= Single submitter Majeed syndrome
- p.Leu651= Single submitter Majeed syndrome
- p.Leu7= Single submitter Majeed syndrome
- p.Leu700= Single submitter Majeed syndrome
- p.Leu763= Single submitter Majeed syndrome
- p.Lys168= Single submitter Majeed syndrome
- p.Lys20= Single submitter Majeed syndrome
- p.Lys381= Single submitter Majeed syndrome
- p.Lys592= Single submitter Majeed syndrome
- p.Lys718= Single submitter
- p.Lys866= Single submitter Majeed syndrome
- p.Lys98= Single submitter
Uncertain significance 451
Showing the top 300 by review status; the full set is in the sitemap.
- c.1168+4A>G Multiple submitters Majeed syndrome
- c.1456+5G>T Multiple submitters Majeed syndrome
- c.1711-3C>T Multiple submitters Majeed syndrome
- c.192+3G>A Multiple submitters Majeed syndrome
- c.2547-1G>A Multiple submitters Majeed syndrome
- p.Ala193Val Multiple submitters Majeed syndrome ⚠
- p.Ala195Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala252Val Multiple submitters Majeed syndrome ⚠
- p.Ala315Val Multiple submitters Majeed syndrome ⚠
- p.Ala372Val Multiple submitters Majeed syndrome ⚠
- p.Ala416Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala450Thr Multiple submitters Majeed syndrome ⚠
- p.Ala595Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala773Thr Multiple submitters Majeed syndrome ⚠
- p.Ala799Val Multiple submitters Majeed syndrome ⚠
- p.Arg280Gln Multiple submitters Majeed syndrome ⚠
- p.Arg299Gln Multiple submitters Majeed syndrome ⚠
- p.Arg557Cys Multiple submitters Majeed syndrome ⚠
- p.Arg671Cys Multiple submitters autoinflammatory syndrome ⚠
- p.Arg760Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg760Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg884Ter Multiple submitters Majeed syndrome
- p.Asn201Asp Multiple submitters Majeed syndrome ⚠
- p.Asn724Ser Multiple submitters autoinflammatory syndrome ⚠
- p.Asp188Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp401His Multiple submitters Majeed syndrome ⚠
- p.Asp644Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp653Asn Multiple submitters Majeed syndrome ⚠
- p.Asp742Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp75Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp885Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln44Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln803His Multiple submitters Majeed syndrome ⚠
- p.Glu211Gln Multiple submitters Majeed syndrome ⚠
- p.Glu259Asp Multiple submitters Majeed syndrome ⚠
- p.Glu351Gln Multiple submitters Majeed syndrome ⚠
- p.Glu479Lys Multiple submitters autoinflammatory syndrome
- p.Glu544Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu97Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly126Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly410Arg Multiple submitters Majeed syndrome ⚠
- p.Gly428Ser Multiple submitters autoinflammatory syndrome ⚠
- p.Gly475Arg Multiple submitters Majeed syndrome ⚠
- p.Gly481Ala Multiple submitters autoinflammatory syndrome ⚠
- p.His220Arg Multiple submitters Majeed syndrome ⚠
- p.His220Asn Multiple submitters Inborn genetic diseases ⚠
- p.His220del Multiple submitters Majeed syndrome
- p.His496Arg Multiple submitters Inborn genetic diseases ⚠
- p.His629Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile118Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile505Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile69Thr Multiple submitters Majeed syndrome ⚠
- p.Ile794Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu256Ile Multiple submitters Inborn genetic diseases ⚠
- p.Leu438Phe Multiple submitters Majeed syndrome ⚠
- p.Leu459Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu627Pro Multiple submitters Majeed syndrome ⚠
- p.Leu856Arg Multiple submitters Majeed syndrome ⚠
- p.Lys167Asn Multiple submitters autoinflammatory syndrome ⚠
- p.Lys191Arg Multiple submitters autoinflammatory syndrome ⚠
- p.Lys781Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys795Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met358Ile Multiple submitters Majeed syndrome ⚠
- p.Phe498Leu Multiple submitters Majeed syndrome ⚠
- p.Phe52Val Multiple submitters Majeed syndrome ⚠
- p.Pro121Ser Multiple submitters Majeed syndrome ⚠
- p.Pro349Arg Multiple submitters Majeed syndrome ⚠
- p.Pro373Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro378Leu Multiple submitters Majeed syndrome ⚠
- p.Pro385Leu Multiple submitters Majeed syndrome ⚠
- p.Pro400Leu Multiple submitters Majeed syndrome
- p.Pro539Arg Multiple submitters Majeed syndrome ⚠
- p.Pro582Leu Multiple submitters autoinflammatory syndrome ⚠
- p.Pro594Leu Multiple submitters Majeed syndrome ⚠
- p.Pro599Leu Multiple submitters Majeed syndrome ⚠
- p.Pro800Leu Multiple submitters Majeed syndrome ⚠
- p.Pro873Thr Multiple submitters Majeed syndrome ⚠
- p.Pro875Leu Multiple submitters Majeed syndrome ⚠
- p.Pro886Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser166Gly Multiple submitters Majeed syndrome ⚠
- p.Ser187Phe Multiple submitters ⚠
- p.Ser303Arg Multiple submitters autoinflammatory syndrome ⚠
- p.Ser357Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser384Leu Multiple submitters Majeed syndrome ⚠
- p.Ser425Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser574Thr Multiple submitters autoinflammatory syndrome ⚠
- p.Ser605Leu Multiple submitters Majeed syndrome ⚠
- p.Thr120Asn Multiple submitters autoinflammatory syndrome ⚠
- p.Thr130Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr233Ile Multiple submitters autoinflammatory syndrome ⚠
- p.Thr234Ile Multiple submitters Majeed syndrome ⚠
- p.Thr26Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr320Ile Multiple submitters Majeed syndrome ⚠
- p.Thr456Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr633del Multiple submitters Majeed syndrome
- p.Thr669Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr19Cys Multiple submitters Majeed syndrome ⚠
- p.Tyr728Cys Multiple submitters Majeed syndrome ⚠
- p.Tyr817Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr819Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val185Met Multiple submitters autoinflammatory syndrome ⚠
- p.Val382Ile Multiple submitters Majeed syndrome ⚠
- p.Val447Met Multiple submitters Majeed syndrome
- c.1456+5G>A Single submitter Majeed syndrome
- c.1710+3A>G Single submitter Majeed syndrome
- c.1938+4A>G Single submitter Majeed syndrome
- c.2327+4C>T Single submitter Majeed syndrome
- c.2327+6T>A Single submitter Majeed syndrome
- c.2327+7C>T Single submitter autoinflammatory syndrome
- c.2547-13A>G Single submitter Majeed syndrome
- c.590+5dup Single submitter Majeed syndrome
- c.699-8C>G Single submitter autoinflammatory syndrome
- c.-10+1170G>A Single submitter Majeed syndrome
- c.-10+1187C>T Single submitter Majeed syndrome
- c.-10+1206A>T Single submitter Majeed syndrome
- c.-10+1219C>T Single submitter Majeed syndrome
- c.-10+1254G>A Single submitter Majeed syndrome
- c.-10+1256G>A Single submitter Majeed syndrome
- c.-10+1349A>G Single submitter Majeed syndrome
- c.-10+1354A>G Single submitter Majeed syndrome
- c.*100G>A Single submitter Majeed syndrome
- c.*1021G>A Single submitter Majeed syndrome
- c.*1026C>T Single submitter Majeed syndrome
- c.*1027G>A Single submitter Majeed syndrome
- c.*1104C>T Single submitter Majeed syndrome
- c.*1126G>A Single submitter Majeed syndrome
- c.*1146T>C Single submitter Majeed syndrome
- c.*1157T>C Single submitter Majeed syndrome
- c.*1199G>A Single submitter Majeed syndrome
- c.*1220G>A Single submitter Majeed syndrome
- c.*1239C>T Single submitter Majeed syndrome
- c.*1417C>T Single submitter Majeed syndrome
- c.*1418G>A Single submitter Majeed syndrome
- c.*1443G>A Single submitter Majeed syndrome
- c.*1462A>G Single submitter Majeed syndrome
- c.*1473T>G Single submitter Majeed syndrome
- c.*1494G>A Single submitter Majeed syndrome
- c.*1497C>T Single submitter Majeed syndrome
- c.*1504T>C Single submitter Majeed syndrome
- c.*1514G>A Single submitter Majeed syndrome
- c.*1514G>C Single submitter Majeed syndrome
- c.*1559A>G Single submitter Majeed syndrome
- c.*155G>C Single submitter Majeed syndrome
- c.*167C>T Single submitter Majeed syndrome
- c.*1742A>G Single submitter Majeed syndrome
- c.*1810A>G Single submitter Majeed syndrome
- c.*1827G>A Single submitter Majeed syndrome
- c.*1874C>G Single submitter Majeed syndrome
- c.*217G>T Single submitter Majeed syndrome
- c.*2216C>A Single submitter Majeed syndrome
- c.*2391G>A Single submitter Majeed syndrome
- c.*2412C>T Single submitter Majeed syndrome
- c.*2417C>T Single submitter Majeed syndrome
- c.*251C>T Single submitter Majeed syndrome
- c.*252G>A Single submitter Majeed syndrome
- c.*2557G>A Single submitter Majeed syndrome
- c.*2605G>A Single submitter Majeed syndrome
- c.*2710A>G Single submitter Majeed syndrome
- c.*271T>G Single submitter Majeed syndrome
- c.*2724A>G Single submitter Majeed syndrome
- c.*2759A>C Single submitter Majeed syndrome
- c.*275C>G Single submitter Majeed syndrome
- c.*2787C>G Single submitter Majeed syndrome
- c.*2830C>T Single submitter Majeed syndrome
- c.*2866A>C Single submitter Majeed syndrome
- c.*2999C>A Single submitter Majeed syndrome
- c.*3217A>G Single submitter Majeed syndrome
- c.*3280C>T Single submitter Majeed syndrome
- c.*362T>C Single submitter Majeed syndrome
- c.*448C>T Single submitter Majeed syndrome
- c.*477C>T Single submitter Majeed syndrome
- c.*493G>A Single submitter Majeed syndrome
- c.*493G>C Single submitter Majeed syndrome
- c.*506C>T Single submitter Majeed syndrome
- c.*507T>C Single submitter Majeed syndrome
- c.*517G>A Single submitter Majeed syndrome
- c.*520T>C Single submitter Majeed syndrome
- c.*5G>A Single submitter autoinflammatory syndrome
- c.*660A>G Single submitter Majeed syndrome
- c.*666C>T Single submitter Majeed syndrome
- c.*725G>A Single submitter Majeed syndrome
- c.*767A>G Single submitter Majeed syndrome
- c.*772G>A Single submitter Majeed syndrome
- c.*773C>T Single submitter Majeed syndrome
- c.*778C>T Single submitter Majeed syndrome
- c.*792G>C Single submitter Majeed syndrome
- c.*796T>C Single submitter Majeed syndrome
- c.*804G>A Single submitter Majeed syndrome
- c.*805C>G Single submitter Majeed syndrome
- c.*805C>T Single submitter Majeed syndrome
- c.*806C>T Single submitter Majeed syndrome
- c.*810G>A Single submitter Majeed syndrome
- c.*813A>C Single submitter Majeed syndrome
- c.*823G>A Single submitter Majeed syndrome
- c.*828T>G Single submitter Majeed syndrome
- c.*833G>A Single submitter Majeed syndrome
- c.*834G>A Single submitter Majeed syndrome
- c.*84A>G Single submitter Majeed syndrome
- c.*855A>G Single submitter Majeed syndrome
- c.*897T>G Single submitter Majeed syndrome
- c.*903T>A Single submitter Majeed syndrome
- c.*934G>C Single submitter Majeed syndrome
- c.*945G>A Single submitter Majeed syndrome
- c.*984T>C Single submitter Majeed syndrome
- p.Ala173Ser Single submitter Inborn genetic diseases ⚠
- p.Ala175Pro Single submitter Majeed syndrome ⚠
- p.Ala193Thr Single submitter Majeed syndrome ⚠
- p.Ala195Gly Single submitter Majeed syndrome ⚠
- p.Ala288Val Single submitter Majeed syndrome ⚠
- p.Ala361Val Single submitter Majeed syndrome ⚠
- p.Ala379Thr Single submitter Majeed syndrome ⚠
- p.Ala380Val Single submitter Majeed syndrome ⚠
- p.Ala522Ser Single submitter Inborn genetic diseases ⚠
- p.Ala595Ser Single submitter Majeed syndrome ⚠
- p.Ala647Val Single submitter Majeed syndrome ⚠
- p.Ala807Val Single submitter Majeed syndrome ⚠
- p.Ala871Thr Single submitter Inborn genetic diseases ⚠
- p.Ala871Val Single submitter Majeed syndrome ⚠
- p.Arg197Gln Single submitter Majeed syndrome ⚠
- p.Arg257Gly Single submitter Majeed syndrome ⚠
- p.Arg299Trp Single submitter Majeed syndrome
- p.Arg517Cys Single submitter Majeed syndrome ⚠
- p.Arg51Trp Single submitter Majeed syndrome ⚠
- p.Arg671His Single submitter Inborn genetic diseases ⚠
- p.Arg745His Single submitter Majeed syndrome ⚠
- p.Arg760Gly Single submitter Majeed syndrome
- p.Arg812Cys Single submitter Majeed syndrome ⚠
- p.Arg812His Single submitter ⚠
- p.Arg842Gly Single submitter Inborn genetic diseases ⚠
- p.Arg884Gln Single submitter Majeed syndrome ⚠
- p.Asn295Ile Single submitter Majeed syndrome ⚠
- p.Asn516Ser Single submitter Majeed syndrome ⚠
- p.Asn752Ser Single submitter Majeed syndrome ⚠
- p.Asn792Lys Single submitter Inborn genetic diseases ⚠
- p.Asn846Thr Single submitter Majeed syndrome
- p.Asp112Tyr Single submitter ⚠
- p.Asp117Ala Single submitter Majeed syndrome ⚠
- p.Asp182Gly Single submitter Majeed syndrome ⚠
- p.Asp182His Single submitter Inborn genetic diseases ⚠
- p.Asp282Gly Single submitter ⚠
- p.Asp338His Single submitter Inborn genetic diseases ⚠
- p.Asp383Glu Single submitter Inborn genetic diseases ⚠
- p.Asp401Glu Single submitter Majeed syndrome ⚠
- p.Asp453Gly Single submitter Inborn genetic diseases ⚠
- p.Asp586Asn Single submitter autoinflammatory syndrome ⚠
- p.Asp653Glu Single submitter Inborn genetic diseases ⚠
- p.Asp683Asn Single submitter Inborn genetic diseases
- p.Asp689Val Single submitter ⚠
- p.Asp815Asn Single submitter Inborn genetic diseases ⚠
- p.Asp82Asn Single submitter ⚠
- p.Asp893Gly Single submitter Majeed syndrome ⚠
- p.Asp894Gly Single submitter Majeed syndrome ⚠
- p.Cys181Tyr Single submitter Majeed syndrome ⚠
- p.Cys240Arg Single submitter ⚠
- p.Cys45Gly Single submitter Majeed syndrome ⚠
- p.Cys672= Single submitter Majeed syndrome
- p.Cys874Tyr Single submitter Majeed syndrome ⚠
- p.Gln24Arg Single submitter Majeed syndrome ⚠
- p.Gln354Arg Single submitter Majeed syndrome ⚠
- p.Gln354His Single submitter Inborn genetic diseases ⚠
- p.Gln38Pro Single submitter ⚠
- p.Gln431Lys Single submitter Majeed syndrome ⚠
- p.Gln532His Single submitter Majeed syndrome ⚠
- p.Gln611Lys Single submitter Inborn genetic diseases ⚠
- p.Gln803Leu Single submitter Majeed syndrome ⚠
- p.Gln821= Single submitter autoinflammatory syndrome
- p.Glu178Gly Single submitter Inborn genetic diseases ⚠
- p.Glu208del Single submitter Majeed syndrome
- p.Glu208Lys Single submitter Majeed syndrome ⚠
- p.Glu248Gln Single submitter ⚠
- p.Glu312Gln Single submitter Majeed syndrome ⚠
- p.Glu457Lys Single submitter Majeed syndrome ⚠
- p.Glu576Lys Single submitter autoinflammatory syndrome ⚠
- p.Glu614Lys Single submitter Majeed syndrome ⚠
- p.Glu780Gly Single submitter Inborn genetic diseases ⚠
- p.Glu858Gly Single submitter Majeed syndrome ⚠
- p.Glu85Ala Single submitter Inborn genetic diseases ⚠
- p.Glu867Ter Single submitter Majeed syndrome
- p.Glu876= Single submitter autoinflammatory syndrome
- p.Gly192Glu Single submitter Inborn genetic diseases ⚠
- p.Gly268Arg Single submitter Majeed syndrome
- p.Gly333Arg Single submitter Majeed syndrome ⚠
- p.Gly390Ala Single submitter Majeed syndrome ⚠
- p.Gly410Asp Single submitter Majeed syndrome ⚠
- p.Gly410Val Single submitter Majeed syndrome ⚠
- p.Gly448Arg Single submitter Inborn genetic diseases ⚠
- p.Gly476= Single submitter autoinflammatory syndrome
- p.Gly481Val Single submitter Inborn genetic diseases ⚠
- p.Gly596Ser Single submitter Majeed syndrome ⚠
- p.Gly746Asp Single submitter Majeed syndrome ⚠
- p.Gly755= Single submitter Majeed syndrome
- p.Gly810Arg Single submitter Majeed syndrome ⚠
- p.Gly81Ser Single submitter Majeed syndrome ⚠
- p.Gly836Ser Single submitter autoinflammatory syndrome ⚠
- p.Gly9Glu Single submitter Majeed syndrome ⚠
- p.His261Asp Single submitter
- p.His283Tyr Single submitter Majeed syndrome ⚠
- p.His363Tyr Single submitter Inborn genetic diseases ⚠
- p.His392Gln Single submitter Majeed syndrome ⚠
- p.His49Arg Single submitter ⚠