RANBP2 — 1382 ClinVar variants
All ClinVar germline RANBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 659 flagged for review →
1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 64 Conflicting · 33 Benign · 53 Benign/Likely benign · 352 Likely benign · 874 Uncertain significance
Full RANBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 659
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
RANBP2 p.Thr585Met
Pathogenic/Likely pathogenic
Multiple submitters
RANBP2-related disorder
-
RANBP2 p.Thr653Ile
Likely pathogenic
Single submitter
RANBP2-related disorder
-
RANBP2 p.Pro1750Arg
Likely pathogenic
No assertion criteria
familial acute necrotizing encephalopathy
Predictors agree, ClinVar conflicts 55
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RANBP2 p.Ala1319Pro
Conflicting
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala1541Pro Conflicting Single submitter
-
RANBP2 p.Ala573Gly
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg1934His
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg198His
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg2144Gln
Conflicting
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Arg229Gln Conflicting Single submitter
-
RANBP2 p.Asn1403Asp
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Asn306Ser
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Asn834Lys
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Asp234Glu
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Asp2584Gly
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Gln1503Leu
Conflicting
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Gln1637Arg Conflicting Single submitter
-
RANBP2 p.Glu695Ala
Conflicting
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Glu703Lys Conflicting Single submitter
-
RANBP2 p.Glu744Gln
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Gly1984Ser
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Gly2205Arg
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Gly2347Arg
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Gly940Cys
Conflicting
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.His1154Arg Conflicting Single submitter
-
RANBP2 p.His1154Leu
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.His466Gln
Conflicting
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ile1814Val Conflicting Single submitter
-
RANBP2 p.Ile409Val
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ile652Val
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Leu1076Val
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Lys1121Asn
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Lys2033Arg
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Lys370Glu
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Phe2597Ser
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Pro1057Leu
Conflicting
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Pro2215Ala Conflicting Single submitter
- RANBP2 p.Pro2247Ser Conflicting Single submitter
-
RANBP2 p.Pro2505Thr
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Pro985Leu
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ser1117Leu
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ser1140Leu
Conflicting
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ser1328Asn Conflicting Single submitter
-
RANBP2 p.Ser1942Ile
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ser2447Phe
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr1517Ala
Conflicting
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Thr1954Ala Conflicting Single submitter
-
RANBP2 p.Thr2602Met
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr2656Ala
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr2821Pro
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr653Ala
Conflicting
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Tyr31Cys Conflicting Single submitter
-
RANBP2 p.Val1312Ile
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Val2243Ala
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Val2488Ala
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Val3116Ile
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Val424Ile
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Val548Ala
Conflicting
Single submitter
familial acute necrotizing encephalopathy
Predictors lean, ClinVar uncertain 557
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 557
-
RANBP2 p.Ala2564Ser
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala3072Val
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala836Val
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg1096Gln
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg1407Gln
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg176Cys
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg3079Gln
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg310Gln
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg428Gln
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Asn560Ser
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Asn747Lys
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Asn965Ser
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Asp1129Glu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Asp1999Val
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Asp2631Ala
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Asp397Gly
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Asp658Asn
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Asp755Asn
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Cys1372Gly
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Cys1730Tyr
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
- RANBP2 p.Cys206Phe Uncertain significance Multiple submitters
-
RANBP2 p.Cys348Phe
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Gln1050Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
- RANBP2 p.Gln1405Glu Uncertain significance Multiple submitters
-
RANBP2 p.Gln1689Arg
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Gln1857Arg
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Gln498Glu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Gln968His
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Glu1659Gly
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Glu672Ala
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Gly1929Asp
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Gly2886Arg
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Gly3074Ser
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Gly766Arg
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.His1162Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.His651Gln
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ile406Val
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ile656Thr
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ile999Met
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ile999Val
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Leu589Val
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Leu612Phe
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Lys115Arg
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Lys1911Glu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Lys2622Gln
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Lys2730Asn
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Lys2730Gln
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Met1661Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Met291Val
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Phe1658Val
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Phe2790Tyr
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Phe654Tyr
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Pro1011Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Pro1467Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Pro1505Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Pro1892Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
- RANBP2 p.Pro1966Ser Uncertain significance Multiple submitters
-
RANBP2 p.Ser1303Thr
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ser2454Ala
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ser2566Asn
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ser2804Ile
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ser3053Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ser635Thr
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr1393Ala
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr1650Ile
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr1742Ala
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr249Ala
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr249Ile
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr51Ala
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr951Met
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Thr998Ala
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Trp1610Cys
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Val1348Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Val1432Ile
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
- RANBP2 p.Val3052Leu Uncertain significance Multiple submitters
-
RANBP2 p.Val411Ile
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Val742Ile
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
- RANBP2 p.Ala1150Thr Uncertain significance Single submitter
-
RANBP2 p.Ala1307Val
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala1315Val
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala1391Asp Uncertain significance Single submitter
- RANBP2 p.Ala1501Val Uncertain significance Single submitter
- RANBP2 p.Ala1541Val Uncertain significance Single submitter
- RANBP2 p.Ala1621Val Uncertain significance Single submitter
-
RANBP2 p.Ala1700Gly
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala1741Asp Uncertain significance Single submitter
- RANBP2 p.Ala1770Val Uncertain significance Single submitter
-
RANBP2 p.Ala1806Thr
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala1990Thr Uncertain significance Single submitter
-
RANBP2 p.Ala2204Ser
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala2233Gly Uncertain significance Single submitter
-
RANBP2 p.Ala2233Val
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala2282Ser
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala2491Gly Uncertain significance Single submitter
-
RANBP2 p.Ala2491Pro
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala2507Val Uncertain significance Single submitter
-
RANBP2 p.Ala2642Thr
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala2873Val Uncertain significance Single submitter
- RANBP2 p.Ala2878Val Uncertain significance Single submitter
-
RANBP2 p.Ala3015Ser
Uncertain significance
Single submitter
RANBP2-related disorder
-
RANBP2 p.Ala311Thr
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala347Ser Uncertain significance Single submitter
- RANBP2 p.Ala377Thr Uncertain significance Single submitter
- RANBP2 p.Ala388Thr Uncertain significance Single submitter
-
RANBP2 p.Ala564Thr
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala573Thr
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala640Thr
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala650Gly
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala650Ser
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala650Thr
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala655Gly
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala659Ser
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala670Thr
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala6Val Uncertain significance Single submitter
-
RANBP2 p.Ala836Glu
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ala988Asp Uncertain significance Single submitter
- RANBP2 p.Ala988Ser Uncertain significance Single submitter
- RANBP2 p.Ala994Thr Uncertain significance Single submitter
- RANBP2 p.Arg1126Gln Uncertain significance Single submitter
- RANBP2 p.Arg1126Gly Uncertain significance Single submitter
-
RANBP2 p.Arg1127Gln
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Arg1214Cys Uncertain significance Single submitter
- RANBP2 p.Arg176His Uncertain significance Single submitter
-
RANBP2 p.Arg1934Cys
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Arg2305Lys Uncertain significance Single submitter
-
RANBP2 p.Arg2455Leu
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Arg2455Trp Uncertain significance Single submitter
- RANBP2 p.Arg256Ile Uncertain significance Single submitter
- RANBP2 p.Arg2663Thr Uncertain significance Single submitter
- RANBP2 p.Arg3091Trp Uncertain significance Single submitter
- RANBP2 p.Arg3214Gln Uncertain significance Single submitter
- RANBP2 p.Arg3215Lys Uncertain significance Single submitter
-
RANBP2 p.Arg363His
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg412Gln
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Arg527Gly Uncertain significance Single submitter
-
RANBP2 p.Arg596Gln
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Arg689Lys
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Asn1062Asp Uncertain significance Single submitter
- RANBP2 p.Asn1114His Uncertain significance Single submitter
- RANBP2 p.Asn1122Tyr Uncertain significance Single submitter
- RANBP2 p.Asn1151His Uncertain significance Single submitter
-
RANBP2 p.Asn1218Ser
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Asn1317Ser Uncertain significance Single submitter
- RANBP2 p.Asn1440Ser Uncertain significance Single submitter
-
RANBP2 p.Asn1619Ser
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Asn204Ser Uncertain significance Single submitter
- RANBP2 p.Asn2214Ser Uncertain significance Single submitter
- RANBP2 p.Asn2702Ser Uncertain significance Single submitter
-
RANBP2 p.Asn2874Ser
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Asn2967Lys Uncertain significance Single submitter
Predictors split 44
The independent predictors disagree with each other — read with care.
-
RANBP2 p.Asp1043Glu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Gly586Cys
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ile2910Thr
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Met291Ile
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Phe2658Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Phe934Leu
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Tyr598His
Uncertain significance
Multiple submitters
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala2104Val
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala2648Val
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ala655Thr
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Arg23Pro Uncertain significance Single submitter
- RANBP2 p.Arg2945Gln Uncertain significance Single submitter
-
RANBP2 p.Arg58Met
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Asn1040Ile Uncertain significance Single submitter
- RANBP2 p.Asn3162Lys Uncertain significance Single submitter
- RANBP2 p.Asp2179Tyr Uncertain significance Single submitter
- RANBP2 p.Asp2818Gly Uncertain significance Single submitter
-
RANBP2 p.Gly432Arg
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Gly900Asp
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Ile100Thr Uncertain significance Single submitter
-
RANBP2 p.Ile1230Ser
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ile2167Val
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ile622Asn
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Leu2147Val
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Lys1297Asn Uncertain significance Single submitter
- RANBP2 p.Lys2178Asn Uncertain significance Single submitter
-
RANBP2 p.Lys99Asn
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Met357Thr
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Phe1194Leu
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Phe125Cys
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Phe1662Leu Uncertain significance Single submitter
- RANBP2 p.Phe1841Leu Uncertain significance Single submitter
- RANBP2 p.Phe2753Leu Uncertain significance Single submitter
-
RANBP2 p.Phe3068Leu
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Phe3085Leu
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Phe3184Leu Uncertain significance Single submitter
-
RANBP2 p.Phe324Leu
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Phe376Leu Uncertain significance Single submitter
-
RANBP2 p.Pro2154Arg
Conflicting
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Pro572Ser
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Pro625Ser
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
-
RANBP2 p.Ser2050Arg
Uncertain significance
Single submitter
familial acute necrotizing encephalopathy
- RANBP2 p.Val742Ala Uncertain significance Single submitter
-
RANBP2 p.Lys690Asn
Likely pathogenic
No assertion criteria
familial acute necrotizing encephalopathy
All RANBP2 variants
Pathogenic/Likely pathogenic 1
- p.Thr585Met Multiple submitters RANBP2-related disorder ⚠
Likely pathogenic 5
- p.Gly1042Asp Single submitter
- p.Ser1942fs Single submitter familial acute necrotizing encephalopathy
- p.Thr653Ile Single submitter RANBP2-related disorder ⚠
- p.Lys690Asn No assertion criteria familial acute necrotizing encephalopathy ⚠
- p.Pro1750Arg No assertion criteria familial acute necrotizing encephalopathy ⚠
Conflicting classifications of pathogenicity 64
- c.783-6T>C Single submitter familial acute necrotizing encephalopathy
- p.Ala1319Pro Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala1541Pro Single submitter ⚠
- p.Ala573Gly Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg1934His Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg198His Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg2144Gln Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg229Gln Single submitter ⚠
- p.Asn1403Asp Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn306Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn834Lys Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asp234Glu Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asp2584Gly Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asp7Ala Single submitter familial acute necrotizing encephalopathy
- p.Gln1439His Single submitter familial acute necrotizing encephalopathy
- p.Gln1503Leu Single submitter familial acute necrotizing encephalopathy ⚠
- p.Gln1637Arg Single submitter ⚠
- p.Glu695Ala Single submitter familial acute necrotizing encephalopathy ⚠
- p.Glu703Lys Single submitter ⚠
- p.Glu744Gln Single submitter familial acute necrotizing encephalopathy ⚠
- p.Gly1481Glu Single submitter familial acute necrotizing encephalopathy
- p.Gly1667Arg Single submitter familial acute necrotizing encephalopathy
- p.Gly1984Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Gly2205Arg Single submitter familial acute necrotizing encephalopathy ⚠
- p.Gly2347Arg Single submitter familial acute necrotizing encephalopathy ⚠
- p.Gly940Cys Single submitter familial acute necrotizing encephalopathy ⚠
- p.His1154Arg Single submitter ⚠
- p.His1154Leu Single submitter familial acute necrotizing encephalopathy ⚠
- p.His187Arg Single submitter familial acute necrotizing encephalopathy
- p.His466Gln Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ile1814Val Single submitter ⚠
- p.Ile409Val Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ile652Val Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ile656Val Single submitter familial acute necrotizing encephalopathy
- p.Leu1076Val Single submitter familial acute necrotizing encephalopathy ⚠
- p.Lys1121Asn Single submitter familial acute necrotizing encephalopathy ⚠
- p.Lys2033Arg Single submitter familial acute necrotizing encephalopathy ⚠
- p.Lys370Glu Single submitter familial acute necrotizing encephalopathy ⚠
- p.Phe1194Leu Single submitter familial acute necrotizing encephalopathy ⚠
- p.Phe2597Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Pro1057Leu Single submitter familial acute necrotizing encephalopathy ⚠
- p.Pro2154Arg Single submitter familial acute necrotizing encephalopathy ⚠
- p.Pro2215Ala Single submitter ⚠
- p.Pro2247Ser Single submitter ⚠
- p.Pro2505Thr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Pro985Leu Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ser1117Leu Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ser1140Leu Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ser1328Asn Single submitter ⚠
- p.Ser1942Ile Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ser2447Phe Single submitter familial acute necrotizing encephalopathy ⚠
- p.Thr1517Ala Single submitter familial acute necrotizing encephalopathy ⚠
- p.Thr1954Ala Single submitter ⚠
- p.Thr2602Met Single submitter familial acute necrotizing encephalopathy ⚠
- p.Thr2656Ala Single submitter familial acute necrotizing encephalopathy ⚠
- p.Thr2821Pro Single submitter familial acute necrotizing encephalopathy ⚠
- p.Thr653Ala Single submitter familial acute necrotizing encephalopathy ⚠
- p.Tyr31Cys Single submitter ⚠
- p.Val1312Ile Single submitter familial acute necrotizing encephalopathy ⚠
- p.Val2243Ala Single submitter familial acute necrotizing encephalopathy ⚠
- p.Val2488Ala Single submitter familial acute necrotizing encephalopathy ⚠
- p.Val3116Ile Single submitter familial acute necrotizing encephalopathy ⚠
- p.Val424Ile Single submitter familial acute necrotizing encephalopathy ⚠
- p.Val548Ala Single submitter familial acute necrotizing encephalopathy ⚠
Benign 33
- c.1064-13A>T Multiple submitters familial acute necrotizing encephalopathy
- c.1456-7A>G Multiple submitters familial acute necrotizing encephalopathy
- c.405+17T>G Multiple submitters familial acute necrotizing encephalopathy
- c.637-18G>A Multiple submitters familial acute necrotizing encephalopathy
- c.72+11C>G Multiple submitters familial acute necrotizing encephalopathy
- c.7849+4A>G Multiple submitters familial acute necrotizing encephalopathy
- c.8600-14G>T Multiple submitters familial acute necrotizing encephalopathy
- c.-45C>T Multiple submitters
- p.Ala1199= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala994= Multiple submitters familial acute necrotizing encephalopathy
- p.Asp853Glu Multiple submitters familial acute necrotizing encephalopathy
- p.Gln1054_Pro1055delinsHisSer Multiple submitters familial acute necrotizing encephalopathy
- p.Glu2751= Multiple submitters familial acute necrotizing encephalopathy
- p.Gly1481= Multiple submitters familial acute necrotizing encephalopathy
- p.Gly3195= Multiple submitters familial acute necrotizing encephalopathy
- p.Gly854= Multiple submitters familial acute necrotizing encephalopathy
- p.His777Arg Multiple submitters familial acute necrotizing encephalopathy
- p.Ile2585Thr Multiple submitters familial acute necrotizing encephalopathy
- p.Leu272Phe Multiple submitters familial acute necrotizing encephalopathy
- p.Met243Thr Multiple submitters familial acute necrotizing encephalopathy
- p.Pro1137= Multiple submitters familial acute necrotizing encephalopathy
- p.Pro780Leu Multiple submitters familial acute necrotizing encephalopathy
- p.Pro985= Multiple submitters familial acute necrotizing encephalopathy
- p.Ser725Gly Multiple submitters familial acute necrotizing encephalopathy
- p.Ser850= Multiple submitters familial acute necrotizing encephalopathy
- p.Val1789= Multiple submitters familial acute necrotizing encephalopathy
- c.1756-3del Single submitter familial acute necrotizing encephalopathy
- c.2202+14T>G Single submitter familial acute necrotizing encephalopathy
- c.7849+936G>T Single submitter
- p.Glu580= Single submitter familial acute necrotizing encephalopathy
- p.Lys1085Gln Single submitter familial acute necrotizing encephalopathy
- p.Thr2492Pro Single submitter familial acute necrotizing encephalopathy
- p.Tyr917= Single submitter familial acute necrotizing encephalopathy
Benign/Likely benign 53
- c.1274-14T>A Multiple submitters familial acute necrotizing encephalopathy
- c.1632-16T>C Multiple submitters familial acute necrotizing encephalopathy
- c.1755+15A>G Multiple submitters familial acute necrotizing encephalopathy
- c.2056-19A>G Multiple submitters familial acute necrotizing encephalopathy
- c.2383-3dup Multiple submitters familial acute necrotizing encephalopathy
- c.2467-11dup Multiple submitters familial acute necrotizing encephalopathy
- c.73-6T>A Multiple submitters familial acute necrotizing encephalopathy
- c.7850-6T>G Multiple submitters familial acute necrotizing encephalopathy
- c.8599+16G>A Multiple submitters familial acute necrotizing encephalopathy
- c.9035-4C>T Multiple submitters familial acute necrotizing encephalopathy
- c.9369+4G>A Multiple submitters familial acute necrotizing encephalopathy
- p.Ala1739= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala2203= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala2204= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala3072= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala640= Multiple submitters familial acute necrotizing encephalopathy
- p.Arg363Cys Multiple submitters familial acute necrotizing encephalopathy
- p.Arg802Gln Multiple submitters familial acute necrotizing encephalopathy
- p.Arg840= Multiple submitters familial acute necrotizing encephalopathy
- p.Asn2068Ser Multiple submitters familial acute necrotizing encephalopathy
- p.Asn2557Asp Multiple submitters familial acute necrotizing encephalopathy
- p.Asn2557Ser Multiple submitters familial acute necrotizing encephalopathy
- p.Asn75Lys Multiple submitters familial acute necrotizing encephalopathy
- p.Asp1167= Multiple submitters familial acute necrotizing encephalopathy
- p.Gln1054His Multiple submitters familial acute necrotizing encephalopathy
- p.Gln1609Leu Multiple submitters familial acute necrotizing encephalopathy
- p.Gln967= Multiple submitters familial acute necrotizing encephalopathy
- p.Gly1587Val Multiple submitters familial acute necrotizing encephalopathy
- p.Gly2891Ser Multiple submitters familial acute necrotizing encephalopathy
- p.Ile2803Val Multiple submitters familial acute necrotizing encephalopathy
- p.Leu1510= Multiple submitters familial acute necrotizing encephalopathy
- p.Leu278= Multiple submitters familial acute necrotizing encephalopathy
- p.Lys1769= Multiple submitters familial acute necrotizing encephalopathy
- p.Lys2621= Multiple submitters familial acute necrotizing encephalopathy
- p.Phe1204= Multiple submitters familial acute necrotizing encephalopathy
- p.Pro1011= Multiple submitters familial acute necrotizing encephalopathy
- p.Pro1055Ser Multiple submitters familial acute necrotizing encephalopathy
- p.Pro512= Multiple submitters familial acute necrotizing encephalopathy
- p.Pro738Ser Multiple submitters familial acute necrotizing encephalopathy
- p.Pro780= Multiple submitters familial acute necrotizing encephalopathy
- p.Pro918= Multiple submitters familial acute necrotizing encephalopathy
- p.Pro924Leu Multiple submitters
- p.Ser1981Thr Multiple submitters familial acute necrotizing encephalopathy
- p.Ser403= Multiple submitters familial acute necrotizing encephalopathy
- p.Ser748Leu Multiple submitters familial acute necrotizing encephalopathy
- p.Thr1576Ser Multiple submitters familial acute necrotizing encephalopathy
- p.Thr2090= Multiple submitters familial acute necrotizing encephalopathy
- p.Thr2221= Multiple submitters familial acute necrotizing encephalopathy
- p.Thr2391Ser Multiple submitters familial acute necrotizing encephalopathy
- p.Thr2500Ile Multiple submitters familial acute necrotizing encephalopathy
- p.Val548= Multiple submitters familial acute necrotizing encephalopathy
- p.Val80Ile Multiple submitters familial acute necrotizing encephalopathy
- p.Val875= Multiple submitters familial acute necrotizing encephalopathy
Likely benign 352
Showing the top 300 by review status; the full set is in the sitemap.
- c.1063+8dup Multiple submitters familial acute necrotizing encephalopathy
- c.1274-13A>T Multiple submitters familial acute necrotizing encephalopathy
- c.1917+9G>A Multiple submitters familial acute necrotizing encephalopathy
- c.1918-10G>A Multiple submitters familial acute necrotizing encephalopathy
- c.1918-11TG[2] Multiple submitters familial acute necrotizing encephalopathy
- c.2202+17T>C Multiple submitters familial acute necrotizing encephalopathy
- c.636+16T>C Multiple submitters familial acute necrotizing encephalopathy
- c.7849+20_7849+25del Multiple submitters familial acute necrotizing encephalopathy
- c.8020+10T>C Multiple submitters familial acute necrotizing encephalopathy
- c.8021-7T>C Multiple submitters familial acute necrotizing encephalopathy
- c.-41G>T Multiple submitters familial acute necrotizing encephalopathy
- p.Ala114= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala122= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala1315= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala1444Val Multiple submitters familial acute necrotizing encephalopathy
- p.Ala1500Pro Multiple submitters familial acute necrotizing encephalopathy
- p.Ala1512Ser Multiple submitters familial acute necrotizing encephalopathy
- p.Ala1680= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala2890= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala475= Multiple submitters familial acute necrotizing encephalopathy
- p.Ala771= Multiple submitters familial acute necrotizing encephalopathy
- p.Arg1126Trp Multiple submitters familial acute necrotizing encephalopathy
- p.Arg428= Multiple submitters familial acute necrotizing encephalopathy
- p.Asn1854Ser Multiple submitters familial acute necrotizing encephalopathy
- p.Asn2394= Multiple submitters familial acute necrotizing encephalopathy
- p.Asn547= Multiple submitters familial acute necrotizing encephalopathy
- p.Asn965= Multiple submitters familial acute necrotizing encephalopathy
- p.Asp164= Multiple submitters familial acute necrotizing encephalopathy
- p.Asp2584Glu Multiple submitters
- p.Asp3073= Multiple submitters familial acute necrotizing encephalopathy
- p.Asp637= Multiple submitters familial acute necrotizing encephalopathy
- p.Gln2871= Multiple submitters familial acute necrotizing encephalopathy
- p.Glu1725= Multiple submitters familial acute necrotizing encephalopathy
- p.Glu1957= Multiple submitters familial acute necrotizing encephalopathy
- p.Glu202= Multiple submitters familial acute necrotizing encephalopathy
- p.Glu580Lys Multiple submitters familial acute necrotizing encephalopathy
- p.Gly2692Asp Multiple submitters familial acute necrotizing encephalopathy
- p.Gly3134= Multiple submitters familial acute necrotizing encephalopathy
- p.Gly900= Multiple submitters familial acute necrotizing encephalopathy
- p.His466= Multiple submitters familial acute necrotizing encephalopathy
- p.Ile2011= Multiple submitters familial acute necrotizing encephalopathy
- p.Ile2585= Multiple submitters familial acute necrotizing encephalopathy
- p.Ile599Met Multiple submitters familial acute necrotizing encephalopathy
- p.Ile719= Multiple submitters familial acute necrotizing encephalopathy
- p.Leu2057= Multiple submitters familial acute necrotizing encephalopathy
- p.Leu2131= Multiple submitters familial acute necrotizing encephalopathy
- p.Leu562= Multiple submitters familial acute necrotizing encephalopathy
- p.Phe2677= Multiple submitters familial acute necrotizing encephalopathy
- p.Phe2790Leu Multiple submitters familial acute necrotizing encephalopathy
- p.Pro1505= Multiple submitters familial acute necrotizing encephalopathy
- p.Pro2097= Multiple submitters familial acute necrotizing encephalopathy
- p.Pro611= Multiple submitters familial acute necrotizing encephalopathy
- p.Ser1993= Multiple submitters familial acute necrotizing encephalopathy
- p.Ser2539= Multiple submitters familial acute necrotizing encephalopathy
- p.Thr2092= Multiple submitters familial acute necrotizing encephalopathy
- p.Thr2492Ala Multiple submitters familial acute necrotizing encephalopathy
- p.Thr3081= Multiple submitters familial acute necrotizing encephalopathy
- p.Thr375Ser Multiple submitters
- p.Thr714= Multiple submitters familial acute necrotizing encephalopathy
- p.Thr779= Multiple submitters familial acute necrotizing encephalopathy
- p.Tyr2227Cys Multiple submitters familial acute necrotizing encephalopathy
- p.Tyr2342= Multiple submitters familial acute necrotizing encephalopathy
- p.Val2040= Multiple submitters familial acute necrotizing encephalopathy
- p.Val2488= Multiple submitters familial acute necrotizing encephalopathy
- p.Val548Leu Multiple submitters familial acute necrotizing encephalopathy
- c.1063+17A>G Single submitter familial acute necrotizing encephalopathy
- c.1064-16T>G Single submitter
- c.1064-18_1064-14del Single submitter
- c.1064-4dup Single submitter
- c.1273+9T>C Single submitter familial acute necrotizing encephalopathy
- c.140+17A>G Single submitter
- c.140+9A>T Single submitter familial acute necrotizing encephalopathy
- c.141-20G>A Single submitter
- c.1455+10G>T Single submitter
- c.1632-9A>G Single submitter familial acute necrotizing encephalopathy
- c.1632-9A>T Single submitter familial acute necrotizing encephalopathy
- c.1755+10A>G Single submitter familial acute necrotizing encephalopathy
- c.1755+12A>C Single submitter familial acute necrotizing encephalopathy
- c.1755+12A>T Single submitter familial acute necrotizing encephalopathy
- c.1755+12dup Single submitter familial acute necrotizing encephalopathy
- c.1755+17A>T Single submitter familial acute necrotizing encephalopathy
- c.1755+8T>G Single submitter familial acute necrotizing encephalopathy
- c.1756-10del Single submitter familial acute necrotizing encephalopathy
- c.1756-10T>C Single submitter familial acute necrotizing encephalopathy
- c.1756-15A>C Single submitter familial acute necrotizing encephalopathy
- c.1756-7T>G Single submitter familial acute necrotizing encephalopathy
- c.1917+13del Single submitter familial acute necrotizing encephalopathy
- c.1917+15T>A Single submitter familial acute necrotizing encephalopathy
- c.1917+16T>C Single submitter familial acute necrotizing encephalopathy
- c.1918-12C>G Single submitter familial acute necrotizing encephalopathy
- c.1918-12C>T Single submitter familial acute necrotizing encephalopathy
- c.1918-13T>C Single submitter familial acute necrotizing encephalopathy
- c.1918-16dup Single submitter familial acute necrotizing encephalopathy
- c.1918-17C>T Single submitter familial acute necrotizing encephalopathy
- c.1918-17del Single submitter familial acute necrotizing encephalopathy
- c.1918-6G>T Single submitter familial acute necrotizing encephalopathy
- c.1918-7del Single submitter familial acute necrotizing encephalopathy
- c.1918-7T>C Single submitter familial acute necrotizing encephalopathy
- c.2055+13A>G Single submitter familial acute necrotizing encephalopathy
- c.2055+19T>G Single submitter familial acute necrotizing encephalopathy
- c.2055+7A>G Single submitter familial acute necrotizing encephalopathy
- c.2055+8G>A Single submitter familial acute necrotizing encephalopathy
- c.2055+8G>C Single submitter
- c.2056-10A>G Single submitter familial acute necrotizing encephalopathy
- c.2056-4A>T Single submitter familial acute necrotizing encephalopathy
- c.2203-8A>G Single submitter familial acute necrotizing encephalopathy
- c.2383-13T>C Single submitter familial acute necrotizing encephalopathy
- c.2466+17C>T Single submitter
- c.2467-5A>C Single submitter familial acute necrotizing encephalopathy
- c.252+19A>G Single submitter
- c.2698-4T>C Single submitter familial acute necrotizing encephalopathy
- c.405+10_405+13del Single submitter
- c.72+13C>G Single submitter
- c.72+5G>A Single submitter familial acute necrotizing encephalopathy
- c.782+17A>G Single submitter
- c.782+3A>G Single submitter
- c.783-7A>G Single submitter familial acute necrotizing encephalopathy
- c.7850-15dup Single submitter
- c.7850-7G>C Single submitter
- c.8020+10_8020+11del Single submitter familial acute necrotizing encephalopathy
- c.8020+10T>G Single submitter familial acute necrotizing encephalopathy
- c.8020+20A>C Single submitter
- c.8020+7C>T Single submitter familial acute necrotizing encephalopathy
- c.8020+9T>A Single submitter
- c.8113+12G>A Single submitter
- c.8114-10G>C Single submitter familial acute necrotizing encephalopathy
- c.8292+8C>A Single submitter familial acute necrotizing encephalopathy
- c.8293-10C>T Single submitter
- c.8293-6_8293-5del Single submitter familial acute necrotizing encephalopathy
- c.8497+8_8497+10del Single submitter familial acute necrotizing encephalopathy
- c.8498-5G>A Single submitter familial acute necrotizing encephalopathy
- c.8599+23_8599+24del Single submitter
- c.8600-17C>A Single submitter
- c.8600-6C>T Single submitter familial acute necrotizing encephalopathy
- c.8761-12C>T Single submitter
- c.8761-4A>G Single submitter familial acute necrotizing encephalopathy
- c.8761-7A>G Single submitter familial acute necrotizing encephalopathy
- c.9369+19A>G Single submitter
- c.9369+20T>C Single submitter
- c.9369+8T>C Single submitter familial acute necrotizing encephalopathy
- c.975+13C>T Single submitter
- c.975+15T>C Single submitter
- c.-50C>T Single submitter
- p.Ala1307= Single submitter
- p.Ala1349= Single submitter familial acute necrotizing encephalopathy
- p.Ala1444= Single submitter
- p.Ala1541= Single submitter
- p.Ala1849= Single submitter
- p.Ala2104= Single submitter
- p.Ala2489= Single submitter
- p.Ala2534= Single submitter familial acute necrotizing encephalopathy
- p.Ala2878= Single submitter
- p.Ala317= Single submitter familial acute necrotizing encephalopathy
- p.Ala534= Single submitter familial acute necrotizing encephalopathy
- p.Ala564= Single submitter familial acute necrotizing encephalopathy
- p.Ala579= Single submitter familial acute necrotizing encephalopathy
- p.Ala79= Single submitter
- p.Ala836= Single submitter familial acute necrotizing encephalopathy
- p.Ala943= Single submitter familial acute necrotizing encephalopathy
- p.Arg1198= Single submitter familial acute necrotizing encephalopathy
- p.Arg2055= Single submitter familial acute necrotizing encephalopathy
- p.Arg2942= Single submitter
- p.Arg2953= Single submitter familial acute necrotizing encephalopathy
- p.Arg3023= Single submitter familial acute necrotizing encephalopathy
- p.Arg454= Single submitter
- p.Arg454Gln Single submitter familial acute necrotizing encephalopathy
- p.Arg552= Single submitter familial acute necrotizing encephalopathy
- p.Arg601= Single submitter familial acute necrotizing encephalopathy
- p.Arg802= Single submitter familial acute necrotizing encephalopathy
- p.Asn1153Ser Single submitter
- p.Asn1678= Single submitter familial acute necrotizing encephalopathy
- p.Asn2094= Single submitter familial acute necrotizing encephalopathy
- p.Asn2557= Single submitter
- p.Asn2702= Single submitter familial acute necrotizing encephalopathy
- p.Asn306= Single submitter
- p.Asn3168= Single submitter familial acute necrotizing encephalopathy
- p.Asn341= Single submitter
- p.Asn590= Single submitter familial acute necrotizing encephalopathy
- p.Asn663= Single submitter familial acute necrotizing encephalopathy
- p.Asn75= Single submitter familial acute necrotizing encephalopathy
- p.Asp108= Single submitter familial acute necrotizing encephalopathy
- p.Asp1129= Single submitter familial acute necrotizing encephalopathy
- p.Asp1831Glu Single submitter
- p.Asp1965= Single submitter
- p.Asp2114= Single submitter familial acute necrotizing encephalopathy
- p.Asp2408= Single submitter
- p.Asp2665= Single submitter familial acute necrotizing encephalopathy
- p.Asp3145= Single submitter familial acute necrotizing encephalopathy
- p.Asp627= Single submitter familial acute necrotizing encephalopathy
- p.Asp649= Single submitter familial acute necrotizing encephalopathy
- p.Asp697= Single submitter
- p.Asp716= Single submitter familial acute necrotizing encephalopathy
- p.Cys1749Tyr Single submitter
- p.Gln1491= Single submitter familial acute necrotizing encephalopathy
- p.Gln1696= Single submitter familial acute necrotizing encephalopathy
- p.Gln1727= Single submitter
- p.Gln209= Single submitter familial acute necrotizing encephalopathy
- p.Gln2754= Single submitter familial acute necrotizing encephalopathy
- p.Gln3136= Single submitter familial acute necrotizing encephalopathy
- p.Gln571= Single submitter familial acute necrotizing encephalopathy
- p.Gln816= Single submitter familial acute necrotizing encephalopathy
- p.Gln879= Single submitter familial acute necrotizing encephalopathy
- p.Glu1210= Single submitter familial acute necrotizing encephalopathy
- p.Glu1384= Single submitter familial acute necrotizing encephalopathy
- p.Glu1666= Single submitter familial acute necrotizing encephalopathy
- p.Glu2444= Single submitter familial acute necrotizing encephalopathy
- p.Glu2700= Single submitter familial acute necrotizing encephalopathy
- p.Glu2709Lys Single submitter familial acute necrotizing encephalopathy
- p.Glu2722= Single submitter familial acute necrotizing encephalopathy
- p.Glu2795= Single submitter familial acute necrotizing encephalopathy
- p.Glu2902= Single submitter
- p.Glu558= Single submitter familial acute necrotizing encephalopathy
- p.Glu672= Single submitter familial acute necrotizing encephalopathy
- p.Gly1387= Single submitter familial acute necrotizing encephalopathy
- p.Gly1462= Single submitter familial acute necrotizing encephalopathy
- p.Gly1494= Single submitter familial acute necrotizing encephalopathy
- p.Gly1598= Single submitter
- p.Gly1919Asp Single submitter
- p.Gly2219= Single submitter
- p.Gly2397= Single submitter familial acute necrotizing encephalopathy
- p.Gly2782= Single submitter familial acute necrotizing encephalopathy
- p.Gly3125= Single submitter
- p.Gly3135= Single submitter familial acute necrotizing encephalopathy
- p.Gly355= Single submitter familial acute necrotizing encephalopathy
- p.His1830Arg Single submitter
- p.His187= Single submitter familial acute necrotizing encephalopathy
- p.His2911= Single submitter
- p.His922= Single submitter familial acute necrotizing encephalopathy
- p.Ile1242= Single submitter
- p.Ile1468= Single submitter familial acute necrotizing encephalopathy
- p.Ile1891= Single submitter
- p.Ile2435Val Single submitter familial acute necrotizing encephalopathy
- p.Ile334_Lys335delinsArgGlu Single submitter
- p.Ile643= Single submitter familial acute necrotizing encephalopathy
- p.Leu1342= Single submitter familial acute necrotizing encephalopathy
- p.Leu181= Single submitter familial acute necrotizing encephalopathy
- p.Leu1978= Single submitter familial acute necrotizing encephalopathy
- p.Leu2119Pro Single submitter
- p.Leu2122= Single submitter
- p.Leu2319= Single submitter familial acute necrotizing encephalopathy
- p.Leu2392= Single submitter
- p.Leu244= Single submitter familial acute necrotizing encephalopathy
- p.Leu2972= Single submitter familial acute necrotizing encephalopathy
- p.Leu3099= Single submitter familial acute necrotizing encephalopathy
- p.Leu582= Single submitter familial acute necrotizing encephalopathy
- p.Leu612= Single submitter familial acute necrotizing encephalopathy
- p.Leu768= Single submitter familial acute necrotizing encephalopathy
- p.Leu889= Single submitter
- p.Leu954= Single submitter familial acute necrotizing encephalopathy
- p.Leu96= Single submitter familial acute necrotizing encephalopathy
- p.Leu98= Single submitter familial acute necrotizing encephalopathy
- p.Lys1152= Single submitter
- p.Lys1350= Single submitter
- p.Lys1351= Single submitter familial acute necrotizing encephalopathy
- p.Lys1693Asn Single submitter
- p.Lys2118= Single submitter
- p.Lys2575Asn Single submitter
- p.Lys584= Single submitter familial acute necrotizing encephalopathy
- p.Phe1099= Single submitter
- p.Phe1195= Single submitter familial acute necrotizing encephalopathy
- p.Phe1584= Single submitter familial acute necrotizing encephalopathy
- p.Phe2013= Single submitter familial acute necrotizing encephalopathy
- p.Phe2535= Single submitter familial acute necrotizing encephalopathy
- p.Phe2863= Single submitter
- p.Phe592= Single submitter familial acute necrotizing encephalopathy
- p.Phe981= Single submitter familial acute necrotizing encephalopathy
- p.Pro1020= Single submitter familial acute necrotizing encephalopathy
- p.Pro1179= Single submitter familial acute necrotizing encephalopathy
- p.Pro1413= Single submitter
- p.Pro1569= Single submitter familial acute necrotizing encephalopathy
- p.Pro2020= Single submitter familial acute necrotizing encephalopathy
- p.Pro2459= Single submitter
- p.Pro2532= Single submitter familial acute necrotizing encephalopathy
- p.Pro2601Thr Single submitter
- p.Pro2627= Single submitter familial acute necrotizing encephalopathy
- p.Pro3076= Single submitter familial acute necrotizing encephalopathy
- p.Pro3118= Single submitter familial acute necrotizing encephalopathy
- p.Pro701= Single submitter familial acute necrotizing encephalopathy
- p.Ser1035= Single submitter
- p.Ser1117= Single submitter familial acute necrotizing encephalopathy
- p.Ser1123= Single submitter
- p.Ser1360= Single submitter familial acute necrotizing encephalopathy
- p.Ser1362= Single submitter familial acute necrotizing encephalopathy
- p.Ser1450= Single submitter familial acute necrotizing encephalopathy
- p.Ser1514= Single submitter familial acute necrotizing encephalopathy
- p.Ser156= Single submitter familial acute necrotizing encephalopathy
- p.Ser1597= Single submitter
- p.Ser1643= Single submitter familial acute necrotizing encephalopathy
- p.Ser1707= Single submitter
- p.Ser1765= Single submitter familial acute necrotizing encephalopathy
- p.Ser1798= Single submitter
- p.Ser1843= Single submitter
- p.Ser1871= Single submitter familial acute necrotizing encephalopathy
- p.Ser2008= Single submitter familial acute necrotizing encephalopathy
- p.Ser205= Single submitter familial acute necrotizing encephalopathy
- p.Ser2431= Single submitter familial acute necrotizing encephalopathy
- p.Ser2558= Single submitter familial acute necrotizing encephalopathy
- p.Ser2805= Single submitter familial acute necrotizing encephalopathy
- p.Ser2900= Single submitter familial acute necrotizing encephalopathy
- p.Ser3086= Single submitter familial acute necrotizing encephalopathy
Uncertain significance 874
Showing the top 300 by review status; the full set is in the sitemap.
- c.406-2A>G Multiple submitters familial acute necrotizing encephalopathy
- p.Ala2337Val Multiple submitters
- p.Ala2564Ser Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ala3072Val Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ala534Val Multiple submitters familial acute necrotizing encephalopathy
- p.Ala836Val Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Arg1096Gln Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Arg1198Cys Multiple submitters familial acute necrotizing encephalopathy
- p.Arg1407Gln Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Arg176Cys Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Arg2039Gln Multiple submitters familial acute necrotizing encephalopathy
- p.Arg229Ter Multiple submitters
- p.Arg3079Gln Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Arg310Gln Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Arg428Gln Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Arg428Ter Multiple submitters
- p.Arg563fs Multiple submitters familial acute necrotizing encephalopathy
- p.Arg64Gly Multiple submitters familial acute necrotizing encephalopathy
- p.Asn204Lys Multiple submitters familial acute necrotizing encephalopathy
- p.Asn560Ser Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Asn747Lys Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Asn965Ser Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Asp1043Glu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Asp1129Glu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Asp1786Tyr Multiple submitters familial acute necrotizing encephalopathy
- p.Asp1999Val Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Asp2009Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 2
- p.Asp2356Asn Multiple submitters familial acute necrotizing encephalopathy
- p.Asp2375Glu Multiple submitters familial acute necrotizing encephalopathy
- p.Asp2437Gly Multiple submitters familial acute necrotizing encephalopathy
- p.Asp2631Ala Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Asp397Gly Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Asp658Asn Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Asp755Asn Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Cys1372Gly Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Cys1730Tyr Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Cys206Phe Multiple submitters ⚠
- p.Cys348Phe Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Gln1050Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Gln1405Glu Multiple submitters ⚠
- p.Gln1689Arg Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Gln1857Arg Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Gln498Glu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Gln968His Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Glu1659Gly Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Glu2637Asp Multiple submitters familial acute necrotizing encephalopathy
- p.Glu672Ala Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Gly1601Ter Multiple submitters familial acute necrotizing encephalopathy
- p.Gly1929Asp Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Gly2542Val Multiple submitters familial acute necrotizing encephalopathy
- p.Gly2886Arg Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Gly3074Ser Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Gly586Cys Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Gly662Glu Multiple submitters familial acute necrotizing encephalopathy
- p.Gly766Arg Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.His1162Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.His2012Arg Multiple submitters familial acute necrotizing encephalopathy
- p.His462Tyr Multiple submitters
- p.His568Tyr Multiple submitters familial acute necrotizing encephalopathy
- p.His632Pro Multiple submitters familial acute necrotizing encephalopathy
- p.His651Gln Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ile2910Thr Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ile406Val Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ile656Thr Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ile999Met Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ile999Val Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Leu554Pro Multiple submitters familial acute necrotizing encephalopathy
- p.Leu589Val Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Leu612Phe Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Lys115Arg Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Lys1911Glu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Lys2622Gln Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Lys2730Asn Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Lys2730Gln Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Met1252Leu Multiple submitters familial acute necrotizing encephalopathy
- p.Met1661Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Met291Ile Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Met291Val Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Phe151Ser Multiple submitters
- p.Phe1658Val Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Phe2658Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Phe2790Tyr Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Phe654fs Multiple submitters familial acute necrotizing encephalopathy
- p.Phe654Tyr Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Phe934Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Pro1011Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Pro1467Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Pro1505Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Pro1892Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Pro1966Ser Multiple submitters ⚠
- p.Pro2640Thr Multiple submitters familial acute necrotizing encephalopathy
- p.Pro512Leu Multiple submitters familial acute necrotizing encephalopathy
- p.Ser1303Thr Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ser217Pro Multiple submitters
- p.Ser2454Ala Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ser2566Asn Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ser2804Ile Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ser3053Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Ser635Thr Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Thr1393Ala Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Thr1650Ile Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Thr1742Ala Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Thr249Ala Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Thr249Ile Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Thr51Ala Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Thr951Met Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Thr998Ala Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Trp1610Cys Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Tyr598His Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Val1348Leu Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Val1432Ile Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Val3052Leu Multiple submitters ⚠
- p.Val411Ile Multiple submitters familial acute necrotizing encephalopathy ⚠
- p.Val742Ile Multiple submitters familial acute necrotizing encephalopathy ⚠
- c.1063+3A>G Single submitter familial acute necrotizing encephalopathy
- c.1064-12T>G Single submitter
- c.1632-10_1632-1delinsAATTTTTAT Single submitter familial acute necrotizing encephalopathy
- c.1632-11C>G Single submitter familial acute necrotizing encephalopathy
- c.1755+4_1755+5del Single submitter familial acute necrotizing encephalopathy
- c.1756-3T>A Single submitter familial acute necrotizing encephalopathy
- c.1917+5C>A Single submitter familial acute necrotizing encephalopathy
- c.1917+6A>G Single submitter familial acute necrotizing encephalopathy
- c.1918-1G>A Single submitter familial acute necrotizing encephalopathy
- c.1918-3del Single submitter familial acute necrotizing encephalopathy
- c.1918-3T>C Single submitter familial acute necrotizing encephalopathy
- c.2055+1G>A Single submitter
- c.2055+6T>C Single submitter familial acute necrotizing encephalopathy
- c.2056-9T>G Single submitter familial acute necrotizing encephalopathy
- c.2202+3A>G Single submitter familial acute necrotizing encephalopathy
- c.2383-3T>C Single submitter familial acute necrotizing encephalopathy
- c.253-2A>G Single submitter
- c.2603-3T>C Single submitter familial acute necrotizing encephalopathy
- c.637-2A>G Single submitter
- c.72+1G>T Single submitter
- c.73-1G>T Single submitter
- c.782+1G>T Single submitter
- c.7850-1G>A Single submitter hereditary ataxia
- c.7850-5T>A Single submitter
- c.8020+3A>G Single submitter
- c.8599+3A>G Single submitter familial acute necrotizing encephalopathy
- c.8599+8C>G Single submitter
- p.Ala1150Thr Single submitter ⚠
- p.Ala1307Val Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala1315Val Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala1369fs Single submitter familial acute necrotizing encephalopathy
- p.Ala1391Asp Single submitter ⚠
- p.Ala1501Val Single submitter ⚠
- p.Ala1541Val Single submitter ⚠
- p.Ala1621Val Single submitter ⚠
- p.Ala1700Gly Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala1741Asp Single submitter ⚠
- p.Ala1770Val Single submitter ⚠
- p.Ala1803Val Single submitter
- p.Ala1806Thr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala1990Thr Single submitter ⚠
- p.Ala2104Val Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala2117Thr Single submitter
- p.Ala2124Val Single submitter
- p.Ala2204Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala2233Gly Single submitter ⚠
- p.Ala2233Val Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala2282Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala2382Val Single submitter
- p.Ala2491Gly Single submitter ⚠
- p.Ala2491Pro Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala2507Val Single submitter ⚠
- p.Ala2642Thr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala2648Val Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala2726Gly Single submitter familial acute necrotizing encephalopathy
- p.Ala2873Val Single submitter ⚠
- p.Ala2878Val Single submitter ⚠
- p.Ala3011= Single submitter familial acute necrotizing encephalopathy
- p.Ala3015Ser Single submitter RANBP2-related disorder ⚠
- p.Ala3098Ser Single submitter familial acute necrotizing encephalopathy
- p.Ala311Thr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala323Pro Single submitter familial acute necrotizing encephalopathy
- p.Ala347Ser Single submitter ⚠
- p.Ala377Thr Single submitter ⚠
- p.Ala388Thr Single submitter ⚠
- p.Ala564Thr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala573Pro Single submitter familial acute necrotizing encephalopathy
- p.Ala573Thr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala640Thr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala650Gly Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala650Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala650Thr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala655Gly Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala655Thr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala659Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala670Thr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala684fs Single submitter
- p.Ala691Val Single submitter
- p.Ala6Val Single submitter ⚠
- p.Ala804Thr Single submitter familial acute necrotizing encephalopathy
- p.Ala836Glu Single submitter familial acute necrotizing encephalopathy ⚠
- p.Ala988Asp Single submitter ⚠
- p.Ala988Ser Single submitter ⚠
- p.Ala994Thr Single submitter ⚠
- p.Arg1126Gln Single submitter ⚠
- p.Arg1126Gly Single submitter ⚠
- p.Arg1127Gln Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg113Ile Single submitter
- p.Arg1214Cys Single submitter ⚠
- p.Arg170fs Single submitter
- p.Arg176His Single submitter ⚠
- p.Arg1934Cys Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg2055Gly Single submitter familial acute necrotizing encephalopathy
- p.Arg2144Trp Single submitter
- p.Arg2305Lys Single submitter ⚠
- p.Arg23Pro Single submitter ⚠
- p.Arg2422His Single submitter
- p.Arg2455Leu Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg2455Trp Single submitter ⚠
- p.Arg256Ile Single submitter ⚠
- p.Arg2663Thr Single submitter ⚠
- p.Arg2945Gln Single submitter ⚠
- p.Arg2970Trp Single submitter
- p.Arg2975Gly Single submitter
- p.Arg3091Trp Single submitter ⚠
- p.Arg3214Gln Single submitter ⚠
- p.Arg3215Lys Single submitter ⚠
- p.Arg350Gln Single submitter
- p.Arg363His Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg412_Glu413insArg Single submitter
- p.Arg412Gln Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg412Ter Single submitter
- p.Arg421Gly Single submitter
- p.Arg454Ter Single submitter familial acute necrotizing encephalopathy
- p.Arg470Gly Single submitter
- p.Arg527Gly Single submitter ⚠
- p.Arg58Met Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg596Gln Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg596Ter Single submitter
- p.Arg689Lys Single submitter familial acute necrotizing encephalopathy ⚠
- p.Arg85Cys Single submitter
- p.Arg85His Single submitter
- p.Arg945Cys Single submitter familial acute necrotizing encephalopathy
- p.Arg945His Single submitter familial acute necrotizing encephalopathy
- p.Asn1040Ile Single submitter ⚠
- p.Asn1062Asp Single submitter ⚠
- p.Asn1114His Single submitter ⚠
- p.Asn1122Tyr Single submitter ⚠
- p.Asn1151His Single submitter ⚠
- p.Asn1218Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn1317Ser Single submitter ⚠
- p.Asn1440Ser Single submitter ⚠
- p.Asn1619Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn1737Ser Single submitter familial acute necrotizing encephalopathy
- p.Asn204Ser Single submitter ⚠
- p.Asn2214Ser Single submitter ⚠
- p.Asn2702Ser Single submitter ⚠
- p.Asn2874Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn2967Lys Single submitter ⚠
- p.Asn3162Lys Single submitter ⚠
- p.Asn3168Ser Single submitter familial acute necrotizing encephalopathy
- p.Asn378Asp Single submitter
- p.Asn378Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn408Ile Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn431Ser Single submitter ⚠
- p.Asn474Ile Single submitter
- p.Asn547Ser Single submitter ⚠
- p.Asn590Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn620Ser Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn682Thr Single submitter familial acute necrotizing encephalopathy
- p.Asn682Tyr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn728Asp Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asn728Tyr Single submitter ⚠
- p.Asn831Lys Single submitter
- p.Asn90Lys Single submitter
- p.Asp1079Val Single submitter
- p.Asp111Glu Single submitter
- p.Asp1130His Single submitter ⚠
- p.Asp1157His Single submitter familial acute necrotizing encephalopathy
- p.Asp1168_Gly1169insAsp Single submitter familial acute necrotizing encephalopathy
- p.Asp1190His Single submitter
- p.Asp1205Asn Single submitter
- p.Asp1205Tyr Single submitter ⚠
- p.Asp1261Asn Single submitter ⚠
- p.Asp1406Asn Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asp1570His Single submitter ⚠
- p.Asp1670His Single submitter
- p.Asp1896Glu Single submitter ⚠
- p.Asp1965Asn Single submitter
- p.Asp1965fs Single submitter familial acute necrotizing encephalopathy
- p.Asp1995Asn Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asp1999Glu Single submitter ⚠
- p.Asp1999Tyr Single submitter familial acute necrotizing encephalopathy ⚠
- p.Asp2031Asn Single submitter familial acute necrotizing encephalopathy
- p.Asp2116Gly Single submitter
- p.Asp2159Val Single submitter
- p.Asp2179Tyr Single submitter ⚠
- p.Asp2236Ala Single submitter ⚠
- p.Asp2294Val Single submitter familial acute necrotizing encephalopathy
- p.Asp2298Val Single submitter familial acute necrotizing encephalopathy
- p.Asp2345Tyr Single submitter
- p.Asp2437Asn Single submitter familial acute necrotizing encephalopathy
- p.Asp2437Glu Single submitter ⚠
- p.Asp2437Tyr Single submitter
- p.Asp2486Gly Single submitter ⚠
- p.Asp2487_Thr2492delinsAlaAla Single submitter