MYCBP2 — 774 ClinVar variants
All ClinVar germline MYCBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 358 flagged for review →
9 Pathogenic · 7 Likely pathogenic · 3 Conflicting · 31 Benign · 1 Benign/Likely benign · 59 Likely benign · 664 Uncertain significance
Full MYCBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 358
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MYCBP2 p.Glu3554Asp
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 297
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 297
-
MYCBP2 p.Gly877Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYCBP2 p.His2087Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYCBP2 p.Leu3349Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYCBP2 p.Ala1162Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala1327Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala1327Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala1558Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala1562Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala1705Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Ala1962Thr Uncertain significance Single submitter
- MYCBP2 p.Ala2013Thr Uncertain significance Single submitter
-
MYCBP2 p.Ala2117Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala2117Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala2142Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala2170Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala2325Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala3103Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala3493Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala3604Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala3819Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala3886Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala4221Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala4417Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Ala508Ser Uncertain significance Single submitter
-
MYCBP2 p.Ala546Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala568Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala882Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala893Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala99Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg1141Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg1617Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg2669Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg2716Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg2750Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg2750Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg2780Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg2818Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Arg2831Gly Uncertain significance Single submitter
-
MYCBP2 p.Arg3069Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg3655His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg405Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg4156Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg4357Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg4457Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg4564Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg4571Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg4571Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg865His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg896Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn132Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn1569His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn1651Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn1842Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Asn2227Ser Uncertain significance Single submitter
-
MYCBP2 p.Asn2466Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn2558Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Asn2608Ser Uncertain significance Single submitter
-
MYCBP2 p.Asn2849Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn2944Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn2994Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn3148Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn3413Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn3583Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn3704His
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Asn3791Asp Uncertain significance Single submitter
-
MYCBP2 p.Asn4529Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asn646Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asp2131Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Asp2293Tyr Uncertain significance Single submitter
-
MYCBP2 p.Asp2323Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asp2408Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Asp2745Gly Uncertain significance Single submitter
-
MYCBP2 p.Asp3011Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asp3011Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asp3412Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asp3466Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asp3613Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asp4567Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asp590His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asp748Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Cys2700Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Cys3133Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Cys3198Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Cys4406Arg Uncertain significance Single submitter
- MYCBP2 p.Cys4454Gly Uncertain significance Single submitter
-
MYCBP2 p.Gln2055His
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Gln2075Pro Uncertain significance Single submitter
-
MYCBP2 p.Gln2641Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Gln445His Uncertain significance Single submitter
-
MYCBP2 p.Gln90Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Gln90His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Glu131Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Glu1496Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Glu3139Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Glu3384Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Glu3404Asp Uncertain significance Single submitter
- MYCBP2 p.Glu3770Lys Uncertain significance Single submitter
- MYCBP2 p.Gly1268Arg Uncertain significance Single submitter
- MYCBP2 p.Gly1869Ser Uncertain significance Single submitter
- MYCBP2 p.Gly2421Arg Uncertain significance Single submitter
-
MYCBP2 p.Gly2620Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Gly2760Asp Uncertain significance Single submitter
-
MYCBP2 p.Gly2760Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Gly2814Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Gly3262Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Gly3381Val Uncertain significance Single submitter
- MYCBP2 p.Gly3817Cys Uncertain significance Single submitter
- MYCBP2 p.Gly3954Glu Uncertain significance Single submitter
- MYCBP2 p.Gly4125Arg Uncertain significance Single submitter
-
MYCBP2 p.Gly4412Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Gly4576Ala Uncertain significance Single submitter
-
MYCBP2 p.Gly612Glu
Uncertain significance
Single submitter
Global developmental delay
-
MYCBP2 p.Gly965Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Gly96Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.His1085Gln Uncertain significance Single submitter
-
MYCBP2 p.His1085Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.His142Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.His1687Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.His1719Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.His1789Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.His2426Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.His3065Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.His3401Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.His3403Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.His3690Arg Uncertain significance Single submitter
- MYCBP2 p.His455Tyr Uncertain significance Single submitter
- MYCBP2 p.His951Arg Uncertain significance Single submitter
-
MYCBP2 p.Ile1086Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile1094Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile1195Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile1952Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile1963Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile2023Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Ile2023Val Uncertain significance Single submitter
-
MYCBP2 p.Ile2094Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile2373Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile2522Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile3291Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile3291Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile3490Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile3745Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Ile3790Val Uncertain significance Single submitter
-
MYCBP2 p.Ile3836Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile3851Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile399Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile4078Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile4105Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ile4148Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Ile4171Met Uncertain significance Single submitter
- MYCBP2 p.Ile4174Val Uncertain significance Single submitter
Predictors split 60
The independent predictors disagree with each other — read with care.
- MYCBP2 p.Ala1311Gly Uncertain significance Single submitter
-
MYCBP2 p.Ala1589Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Ala3173Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg1884Ser
Uncertain significance
Single submitter
MYCBP2-related developmental delay with corpus callosum defects
-
MYCBP2 p.Arg2895Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg2895Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Arg3088Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Arg325Gly Uncertain significance Single submitter
-
MYCBP2 p.Arg4583Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Asn1985Ser Uncertain significance Single submitter
- MYCBP2 p.Asn231Lys Uncertain significance Single submitter
- MYCBP2 p.Asn3118Ser Uncertain significance Single submitter
- MYCBP2 p.Asp2189Asn Uncertain significance Single submitter
-
MYCBP2 p.Asp2519His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Asp477Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Asp528Gly Uncertain significance Single submitter
-
MYCBP2 p.Cys1570Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Cys1906Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Cys2014Tyr Uncertain significance Single submitter
-
MYCBP2 p.Glu3310Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Glu834Ala Uncertain significance Single submitter
-
MYCBP2 p.Gly1463Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Gly271Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Gly4104Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.His2792Arg Uncertain significance Single submitter
-
MYCBP2 p.His3700Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.His507Gln Uncertain significance Single submitter
-
MYCBP2 p.Ile3093Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Ile345Phe Uncertain significance Single submitter
-
MYCBP2 p.Ile836Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Ile851Asn Uncertain significance Single submitter
- MYCBP2 p.Leu1075Phe Uncertain significance Single submitter
- MYCBP2 p.Leu1441Phe Uncertain significance Single submitter
- MYCBP2 p.Leu3156Phe Uncertain significance Single submitter
-
MYCBP2 p.Leu4206Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Leu4229Phe Uncertain significance Single submitter
-
MYCBP2 p.Lys1921Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Lys198Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Lys2210Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Lys2441Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Lys2823Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Lys3056Arg Uncertain significance Single submitter
- MYCBP2 p.Lys3084Glu Uncertain significance Single submitter
- MYCBP2 p.Lys334Glu Uncertain significance Single submitter
- MYCBP2 p.Met3112Leu Uncertain significance Single submitter
-
MYCBP2 p.Met4260Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Phe1945Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Phe3142Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Phe3224Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Pro1531Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MYCBP2 p.Pro3499Arg Uncertain significance Single submitter
- MYCBP2 p.Ser1736Asn Uncertain significance Single submitter
- MYCBP2 p.Ser2483Asn Uncertain significance Single submitter
-
MYCBP2 p.Ser3114Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Val1670Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Val2932Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Val3120Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Val316Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Val846Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYCBP2 p.Gln1986His
Uncertain significance
No assertion criteria
MYCBP2-related disorder
All MYCBP2 variants
Pathogenic 9
- p.Arg4155Ter Single submitter
- p.Arg4557Cys Single submitter
- p.Arg715Ter Single submitter
- p.Asp1373Gly Single submitter
- p.Gln1647Ter Single submitter
- p.Glu186Ter Single submitter
- p.Glu4510Ter Single submitter
- p.Gly1328fs Single submitter MYCBP2-associated neurodevelopmental disorder
- p.Val3299Gly Single submitter
Likely pathogenic 7
- c.4942-2A>C Single submitter
- c.7188-2A>G Single submitter
- p.Arg538Ter Single submitter
- p.Lys2467= Single submitter
- p.Met3952Thr Single submitter
- p.Phe2957fs Single submitter
- p.Trp2536Ter Single submitter MYCBP2-related disorder
Conflicting classifications of pathogenicity 3
- c.9784+3A>G Single submitter MYCBP2-related neurodevelopmental condition
- p.Arg935Ter Single submitter
- p.Glu3554Asp Single submitter Inborn genetic diseases ⚠
Benign 31
- c.11037-10G>A Multiple submitters
- c.1189-4G>T Multiple submitters
- c.2940-7A>G Multiple submitters
- c.6115-8G>A Multiple submitters
- p.Ala1919Ser Multiple submitters
- p.Ala780Ser Multiple submitters
- p.Gln4585= Multiple submitters
- p.Thr3397= Multiple submitters
- p.Thr3906= Multiple submitters
- p.Val1916= Multiple submitters
- c.11824-17del Single submitter
- c.1260+56del Single submitter
- c.2940-8del Single submitter
- c.5341-3del Single submitter
- p.Ala1152Val Single submitter
- p.Ala1609= Single submitter
- p.Ala301Ser Single submitter
- p.Arg2841His Single submitter
- p.Thr2049= Single submitter
- c.10367+4T>C No assertion criteria MYCBP2-related disorder
- c.2940-6del No assertion criteria MYCBP2-related disorder
- c.2940-8T>G No assertion criteria MYCBP2-related disorder
- c.2940-9_2940-8del No assertion criteria MYCBP2-related disorder
- c.6459+7A>C No assertion criteria MYCBP2-related disorder
- p.Ile1498Val No assertion criteria MYCBP2-related disorder
- p.Leu2158= No assertion criteria MYCBP2-related disorder
- p.Pro3518= No assertion criteria MYCBP2-related disorder
- p.Ser651= No assertion criteria MYCBP2-related disorder
- p.Thr1294= No assertion criteria MYCBP2-related disorder
- p.Thr2728= No assertion criteria MYCBP2-related disorder
- p.Val4671= No assertion criteria MYCBP2-related disorder
Benign/Likely benign 1
- p.Leu2788Ser Multiple submitters
Likely benign 59
- p.Asn1522= Multiple submitters
- p.Gln685His Multiple submitters
- c.13647+4T>A Single submitter
- c.4942-5C>T Single submitter
- c.8018-5T>C Single submitter
- c.9955-6C>T Single submitter
- p.Ala2675= Single submitter
- p.Ala3028= Single submitter Inborn genetic diseases
- p.Arg2747His Single submitter Inborn genetic diseases
- p.Arg3500= Single submitter
- p.Asn3697= Single submitter
- p.Asn4402= Single submitter
- p.Asp2345= Single submitter
- p.Glu1782Gly Single submitter
- p.Gly2663= Single submitter
- p.Gly794= Single submitter Inborn genetic diseases
- p.His3162= Single submitter
- p.Leu2162= Single submitter
- p.Leu2193= Single submitter
- p.Leu277= Single submitter
- p.Leu3564= Single submitter
- p.Pro1809Thr Single submitter
- p.Ser3619Asn Single submitter Inborn genetic diseases
- p.Ser4416Asn Single submitter Inborn genetic diseases
- p.Ser800= Single submitter Inborn genetic diseases
- p.Thr260= Single submitter
- p.Thr2897= Single submitter
- p.Val1689Ile Single submitter
- c.10368-7T>C No assertion criteria MYCBP2-related disorder
- c.1647+8_1647+10del No assertion criteria MYCBP2-related disorder
- c.2381+9C>T No assertion criteria MYCBP2-related disorder
- c.2940-7A>T No assertion criteria MYCBP2-related disorder
- c.4444+10A>T No assertion criteria MYCBP2-related disorder
- c.4942-4G>A No assertion criteria MYCBP2-related disorder
- c.5795-3dup No assertion criteria MYCBP2-related disorder
- c.945+10A>G No assertion criteria MYCBP2-related disorder
- c.9955-5G>T No assertion criteria MYCBP2-related disorder
- p.Ala4337= No assertion criteria MYCBP2-related disorder
- p.Asn1868= No assertion criteria MYCBP2-related disorder
- p.Asn2076Ser No assertion criteria MYCBP2-related disorder
- p.Asp2651= No assertion criteria MYCBP2-related disorder
- p.Cys2951= No assertion criteria MYCBP2-related disorder
- p.Gln3487= No assertion criteria MYCBP2-related disorder
- p.Glu3131= No assertion criteria MYCBP2-related disorder
- p.Glu3612= No assertion criteria MYCBP2-related disorder
- p.Gly2114= No assertion criteria MYCBP2-related disorder
- p.Gly2421= No assertion criteria MYCBP2-related disorder
- p.Gly3712= No assertion criteria MYCBP2-related disorder
- p.Gly804= No assertion criteria MYCBP2-related disorder
- p.Leu3862= No assertion criteria MYCBP2-related disorder
- p.Leu3913= No assertion criteria MYCBP2-related disorder
- p.Phe4303= No assertion criteria MYCBP2-related disorder
- p.Phe514= No assertion criteria MYCBP2-related disorder
- p.Pro2912= No assertion criteria MYCBP2-related disorder
- p.Ser2959= No assertion criteria MYCBP2-related disorder
- p.Ser432Thr No assertion criteria MYCBP2-related disorder
- p.Thr4127Ala No assertion criteria MYCBP2-related disorder
- p.Thr927= No assertion criteria MYCBP2-related disorder
- p.Val2299= No assertion criteria MYCBP2-related disorder
Uncertain significance 664
Showing the top 300 by review status; the full set is in the sitemap.
- p.Asp4042Val Multiple submitters Inborn genetic diseases
- p.Asp4087Asn Multiple submitters Inborn genetic diseases
- p.Gly877Ala Multiple submitters Inborn genetic diseases ⚠
- p.His2087Leu Multiple submitters Inborn genetic diseases ⚠
- p.Leu3349Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys2309Ter Multiple submitters Inborn genetic diseases
- p.Phe1319Leu Multiple submitters
- p.Tyr962Cys Multiple submitters Inborn genetic diseases
- c.2017_2017+12delinsC Single submitter
- c.2381+3A>G Single submitter
- c.2630-2A>C Single submitter
- c.5895+2T>G Single submitter
- c.594+1G>C Single submitter
- c.748+2_748+3del Single submitter
- c.7660-2A>G Single submitter
- p.Ala1038Pro Single submitter Inborn genetic diseases
- p.Ala1162fs Single submitter
- p.Ala1162Val Single submitter Inborn genetic diseases ⚠
- p.Ala1192Thr Single submitter Inborn genetic diseases
- p.Ala1311Gly Single submitter ⚠
- p.Ala1316Gly Single submitter Inborn genetic diseases
- p.Ala1327Gly Single submitter Inborn genetic diseases ⚠
- p.Ala1327Val Single submitter Inborn genetic diseases ⚠
- p.Ala1376Val Single submitter
- p.Ala1558Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1562Gly Single submitter Inborn genetic diseases ⚠
- p.Ala1589Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1705Val Single submitter Inborn genetic diseases ⚠
- p.Ala1746Gly Single submitter Inborn genetic diseases
- p.Ala1962Thr Single submitter ⚠
- p.Ala2013Thr Single submitter ⚠
- p.Ala2117Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2117Val Single submitter Inborn genetic diseases ⚠
- p.Ala2142Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2170Ser Single submitter Inborn genetic diseases ⚠
- p.Ala2325Gly Single submitter Inborn genetic diseases ⚠
- p.Ala2419Thr Single submitter Inborn genetic diseases
- p.Ala3066Thr Single submitter Inborn genetic diseases
- p.Ala3103Ser Single submitter Inborn genetic diseases ⚠
- p.Ala3173Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3178Asp Single submitter
- p.Ala3215fs Single submitter Inborn genetic diseases
- p.Ala3348Val Single submitter Inborn genetic diseases
- p.Ala3493Ser Single submitter Inborn genetic diseases ⚠
- p.Ala3604Ser Single submitter Inborn genetic diseases ⚠
- p.Ala3645Gly Single submitter Inborn genetic diseases
- p.Ala3646Thr Single submitter
- p.Ala3819Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3886Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4034Ser Single submitter
- p.Ala4116Val Single submitter Inborn genetic diseases
- p.Ala4221Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4417Val Single submitter Inborn genetic diseases ⚠
- p.Ala502Thr Single submitter Inborn genetic diseases
- p.Ala508Ser Single submitter ⚠
- p.Ala546Thr Single submitter Inborn genetic diseases ⚠
- p.Ala568Val Single submitter Inborn genetic diseases ⚠
- p.Ala687Ser Single submitter Inborn genetic diseases
- p.Ala882Pro Single submitter Inborn genetic diseases ⚠
- p.Ala893Val Single submitter Inborn genetic diseases ⚠
- p.Ala99Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1141Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1255Cys Single submitter Inborn genetic diseases
- p.Arg1409Gly Single submitter
- p.Arg1413Ile Single submitter Inborn genetic diseases
- p.Arg1617Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1659Cys Single submitter Inborn genetic diseases
- p.Arg1884Ser Single submitter MYCBP2-related developmental delay with corpus callosum defects ⚠
- p.Arg1918Gly Single submitter Inborn genetic diseases
- p.Arg1918Ter Single submitter
- p.Arg215Gln Single submitter Inborn genetic diseases
- p.Arg2280His Single submitter Inborn genetic diseases
- p.Arg2469Gln Single submitter Inborn genetic diseases
- p.Arg2669Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2716Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2716Ter Single submitter
- p.Arg2750Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2750Trp Single submitter Inborn genetic diseases ⚠
- p.Arg2780Lys Single submitter Inborn genetic diseases ⚠
- p.Arg2818Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2818Trp Single submitter Inborn genetic diseases
- p.Arg2831Gly Single submitter ⚠
- p.Arg2882Cys Single submitter Inborn genetic diseases
- p.Arg2895Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2895Leu Single submitter Inborn genetic diseases ⚠
- p.Arg3069Lys Single submitter Inborn genetic diseases ⚠
- p.Arg3088Lys Single submitter Inborn genetic diseases ⚠
- p.Arg325Gly Single submitter ⚠
- p.Arg3265Gln Single submitter Inborn genetic diseases
- p.Arg3302Cys Single submitter Inborn genetic diseases
- p.Arg3302Ser Single submitter Inborn genetic diseases
- p.Arg3333Cys Single submitter Inborn genetic diseases
- p.Arg3537Gln Single submitter Inborn genetic diseases
- p.Arg3537Leu Single submitter
- p.Arg3570Gln Single submitter Inborn genetic diseases
- p.Arg3655His Single submitter Inborn genetic diseases ⚠
- p.Arg3803Gln Single submitter
- p.Arg3863Lys Single submitter
- p.Arg3978Cys Single submitter Inborn genetic diseases
- p.Arg3983Lys Single submitter Inborn genetic diseases
- p.Arg3985Cys Single submitter Inborn genetic diseases
- p.Arg4030Gln Single submitter Inborn genetic diseases
- p.Arg405Cys Single submitter Inborn genetic diseases ⚠
- p.Arg4155Gln Single submitter Inborn genetic diseases
- p.Arg4156Gln Single submitter Inborn genetic diseases ⚠
- p.Arg4156Ter Single submitter Inborn genetic diseases
- p.Arg4357Cys Single submitter Inborn genetic diseases ⚠
- p.Arg4457Gln Single submitter Inborn genetic diseases ⚠
- p.Arg4457Ter Single submitter
- p.Arg4502Gly Single submitter Inborn genetic diseases
- p.Arg4557His Single submitter Inborn genetic diseases
- p.Arg4564Trp Single submitter Inborn genetic diseases ⚠
- p.Arg4571Gly Single submitter Inborn genetic diseases ⚠
- p.Arg4571Thr Single submitter Inborn genetic diseases ⚠
- p.Arg4583Ser Single submitter Inborn genetic diseases ⚠
- p.Arg863Trp Single submitter Inborn genetic diseases
- p.Arg865His Single submitter Inborn genetic diseases ⚠
- p.Arg896Lys Single submitter Inborn genetic diseases ⚠
- p.Arg935Leu Single submitter Inborn genetic diseases
- p.Arg941Gln Single submitter Inborn genetic diseases
- p.Asn132Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1569His Single submitter Inborn genetic diseases ⚠
- p.Asn1651Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1842Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1985Ser Single submitter ⚠
- p.Asn2184Lys Single submitter
- p.Asn2227Ser Single submitter ⚠
- p.Asn2275Asp Single submitter Inborn genetic diseases
- p.Asn231Lys Single submitter ⚠
- p.Asn2414Ser Single submitter Inborn genetic diseases
- p.Asn2466Asp Single submitter Inborn genetic diseases ⚠
- p.Asn2530Asp Single submitter
- p.Asn2558Asp Single submitter Inborn genetic diseases ⚠
- p.Asn2608Ser Single submitter ⚠
- p.Asn2849Asp Single submitter Inborn genetic diseases ⚠
- p.Asn2944Ser Single submitter Inborn genetic diseases ⚠
- p.Asn2994Asp Single submitter Inborn genetic diseases ⚠
- p.Asn3118Ser Single submitter ⚠
- p.Asn3148Ser Single submitter Inborn genetic diseases ⚠
- p.Asn3413Ser Single submitter Inborn genetic diseases ⚠
- p.Asn3578Thr Single submitter Inborn genetic diseases
- p.Asn3583Ser Single submitter Inborn genetic diseases ⚠
- p.Asn3704His Single submitter Inborn genetic diseases ⚠
- p.Asn3791Asp Single submitter ⚠
- p.Asn4529Ser Single submitter Inborn genetic diseases ⚠
- p.Asn646Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1029Asn Single submitter Inborn genetic diseases
- p.Asp1029Glu Single submitter Inborn genetic diseases
- p.Asp1259Asn Single submitter Inborn genetic diseases
- p.Asp1288His Single submitter
- p.Asp1355Ala Single submitter
- p.Asp1355Val Single submitter Inborn genetic diseases
- p.Asp1390Val Single submitter
- p.Asp1455Gly Single submitter
- p.Asp1786Gly Single submitter
- p.Asp1806Asn Single submitter
- p.Asp1844Gly Single submitter
- p.Asp1903Gly Single submitter
- p.Asp2131Gly Single submitter Inborn genetic diseases ⚠
- p.Asp2177Gly Single submitter
- p.Asp2189Asn Single submitter ⚠
- p.Asp2277Asn Single submitter
- p.Asp2293fs Single submitter
- p.Asp2293Tyr Single submitter ⚠
- p.Asp2323Gly Single submitter Inborn genetic diseases ⚠
- p.Asp2408Gly Single submitter Inborn genetic diseases ⚠
- p.Asp2435Asn Single submitter
- p.Asp2519His Single submitter Inborn genetic diseases ⚠
- p.Asp2640His Single submitter
- p.Asp2651Ala Single submitter Inborn genetic diseases
- p.Asp2745Gly Single submitter ⚠
- p.Asp3011Gly Single submitter Inborn genetic diseases ⚠
- p.Asp3011Val Single submitter Inborn genetic diseases ⚠
- p.Asp339Tyr Single submitter
- p.Asp3412Glu Single submitter Inborn genetic diseases ⚠
- p.Asp3466Glu Single submitter Inborn genetic diseases ⚠
- p.Asp3613Gly Single submitter Inborn genetic diseases ⚠
- p.Asp3710Gly Single submitter
- p.Asp3847fs Single submitter
- p.Asp4286Asn Single submitter Inborn genetic diseases
- p.Asp4567Gly Single submitter Inborn genetic diseases ⚠
- p.Asp477Ala Single submitter Inborn genetic diseases ⚠
- p.Asp528Gly Single submitter ⚠
- p.Asp590His Single submitter Inborn genetic diseases ⚠
- p.Asp748Asn Single submitter Inborn genetic diseases ⚠
- p.Cys1169Ser Single submitter Inborn genetic diseases
- p.Cys1198Gly Single submitter Inborn genetic diseases
- p.Cys1465Tyr Single submitter Inborn genetic diseases
- p.Cys1563Phe Single submitter Inborn genetic diseases
- p.Cys1570Arg Single submitter Inborn genetic diseases ⚠
- p.Cys1693Phe Single submitter Inborn genetic diseases
- p.Cys1906Arg Single submitter Inborn genetic diseases ⚠
- p.Cys2014Tyr Single submitter ⚠
- p.Cys2246Ser Single submitter
- p.Cys2606His Single submitter
- p.Cys2606Ser Single submitter
- p.Cys2700Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys3133Phe Single submitter Inborn genetic diseases ⚠
- p.Cys3190Tyr Single submitter Inborn genetic diseases
- p.Cys3198Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys3734Tyr Single submitter
- p.Cys4406Arg Single submitter ⚠
- p.Cys4454Gly Single submitter ⚠
- p.Cys4610fs Single submitter
- p.Cys798Gly Single submitter
- p.Cys938Gly Single submitter
- p.Gln2055His Single submitter Inborn genetic diseases ⚠
- p.Gln2075Pro Single submitter ⚠
- p.Gln227Ter Single submitter
- p.Gln2315Arg Single submitter Inborn genetic diseases
- p.Gln2638Arg Single submitter Inborn genetic diseases
- p.Gln2641Arg Single submitter Inborn genetic diseases ⚠
- p.Gln3180Arg Single submitter Inborn genetic diseases
- p.Gln3625Lys Single submitter Inborn genetic diseases
- p.Gln3691Ter Single submitter MYCBP2-related disorder
- p.Gln3966Glu Single submitter
- p.Gln445His Single submitter ⚠
- p.Gln90Glu Single submitter Inborn genetic diseases ⚠
- p.Gln90His Single submitter Inborn genetic diseases ⚠
- p.Gln968Leu Single submitter Inborn genetic diseases
- p.Glu1096Lys Single submitter Inborn genetic diseases
- p.Glu1301Val Single submitter Inborn genetic diseases
- p.Glu131Gln Single submitter Inborn genetic diseases ⚠
- p.Glu1496Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1901Ala Single submitter Inborn genetic diseases
- p.Glu2153Val Single submitter
- p.Glu2188del Single submitter
- p.Glu3139Lys Single submitter Inborn genetic diseases ⚠
- p.Glu3310Gly Single submitter
- p.Glu3310Lys Single submitter Inborn genetic diseases ⚠
- p.Glu3317Gly Single submitter Inborn genetic diseases
- p.Glu3384Gly Single submitter Inborn genetic diseases ⚠
- p.Glu3404Asp Single submitter ⚠
- p.Glu3610_Glu3612del Single submitter
- p.Glu3770Lys Single submitter ⚠
- p.Glu4354Lys Single submitter
- p.Glu4403Lys Single submitter
- p.Glu457del Single submitter MYCBP2-related developmental delay with corpus callosum defects
- p.Glu658Asp Single submitter
- p.Glu834Ala Single submitter ⚠
- p.Gly1127Ala Single submitter
- p.Gly1127Asp Single submitter Inborn genetic diseases
- p.Gly1265Arg Single submitter
- p.Gly1268Arg Single submitter ⚠
- p.Gly1274del Single submitter MYCBP2-related disorder
- p.Gly1463Val Single submitter Inborn genetic diseases ⚠
- p.Gly1499Glu Single submitter
- p.Gly1512Val Single submitter Inborn genetic diseases
- p.Gly1709Arg Single submitter autism spectrum disorder due to AUTS2 deficiency
- p.Gly1714Arg Single submitter Inborn genetic diseases
- p.Gly1734Asp Single submitter
- p.Gly1869Ser Single submitter ⚠
- p.Gly2150Ala Single submitter Inborn genetic diseases
- p.Gly2183Asp Single submitter Inborn genetic diseases
- p.Gly2252Ser Single submitter
- p.Gly2421Arg Single submitter ⚠
- p.Gly2620Glu Single submitter Inborn genetic diseases ⚠
- p.Gly271Glu Single submitter Inborn genetic diseases ⚠
- p.Gly2760Asp Single submitter ⚠
- p.Gly2760Ser Single submitter Inborn genetic diseases ⚠
- p.Gly2814Val Single submitter Inborn genetic diseases ⚠
- p.Gly3221Asp Single submitter Inborn genetic diseases
- p.Gly3262Ser Single submitter Inborn genetic diseases ⚠
- p.Gly3381Val Single submitter ⚠
- p.Gly3763Asp Single submitter
- p.Gly3789Ala Single submitter Inborn genetic diseases
- p.Gly3817Cys Single submitter ⚠
- p.Gly3954Glu Single submitter ⚠
- p.Gly4098Glu Single submitter Inborn genetic diseases
- p.Gly4104Arg Single submitter Inborn genetic diseases ⚠
- p.Gly4125Arg Single submitter ⚠
- p.Gly4398Arg Single submitter Inborn genetic diseases
- p.Gly4412Ser Single submitter Inborn genetic diseases ⚠
- p.Gly4533Cys Single submitter
- p.Gly4576Ala Single submitter ⚠
- p.Gly612Glu Single submitter Global developmental delay ⚠
- p.Gly726Arg Single submitter
- p.Gly773Val Single submitter Inborn genetic diseases
- p.Gly793Arg Single submitter Inborn genetic diseases
- p.Gly965Asp Single submitter Inborn genetic diseases ⚠
- p.Gly96Arg Single submitter Inborn genetic diseases ⚠
- p.Gly991Asp Single submitter Inborn genetic diseases
- p.Gly991Ser Single submitter Inborn genetic diseases
- p.His1085Gln Single submitter ⚠
- p.His1085Tyr Single submitter Inborn genetic diseases ⚠
- p.His1194Asn Single submitter Inborn genetic diseases
- p.His142Arg Single submitter Inborn genetic diseases ⚠
- p.His1687Arg Single submitter Inborn genetic diseases ⚠
- p.His1719Gln Single submitter Inborn genetic diseases ⚠
- p.His1789Arg Single submitter
- p.His1789Tyr Single submitter Inborn genetic diseases ⚠
- p.His2019Arg Single submitter Inborn genetic diseases
- p.His218Tyr Single submitter Inborn genetic diseases
- p.His2300Tyr Single submitter neurodevelopmental disorder
- p.His2426Pro Single submitter Inborn genetic diseases ⚠
- p.His2792Arg Single submitter ⚠
- p.His2929Leu Single submitter
- p.His3065Tyr Single submitter Inborn genetic diseases ⚠
- p.His3401Tyr Single submitter Inborn genetic diseases ⚠
- p.His3403Gln Single submitter Inborn genetic diseases ⚠