Sugi Variant

Sugi Variant/MORC2

MORC2 — 1059 ClinVar variants

All ClinVar germline MORC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 463 flagged for review →

9 Pathogenic · 10 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 34 Conflicting · 36 Benign · 22 Benign/Likely benign · 387 Likely benign · 542 Uncertain significance

Full MORC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 463

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.

Predictors agree, ClinVar conflicts 25

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 320

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 320

Predictors split 115

The independent predictors disagree with each other — read with care.

All MORC2 variants

Pathogenic 9

  • p.Ser87Leu Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Arg132Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg252Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp466Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Cys407Tyr Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu236Ala Single submitter
  • p.Leu267Pro Single submitter MORC2-related disorder
  • p.Ser87Pro Single submitter developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Thr424Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z

Pathogenic/Likely pathogenic 10

  • p.Arg132Cys Multiple submitters MORC2-related developmental disorder
  • p.Arg132His Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Arg252Trp Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Arg266Ser Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Asp466Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu236Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu27Lys Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Thr24Ile Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Thr424Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Tyr394Cys Multiple submitters Inborn genetic diseases

Likely pathogenic 19

  • p.Ala406Val Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala431Val Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala88Val Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asn22His Single submitter developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Asp1011Asn Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp466His Single submitter MORC2-related disorder
  • p.Cys270Trp Single submitter developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Cys407Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gln99His Single submitter MORC2-related disorder ⚠
  • p.Gly101Trp Single submitter developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Ile391Thr Single submitter MORC2-related disorder
  • p.Lys89Glu Single submitter developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Ser106Leu Single submitter developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Ser388Arg Single submitter ⚠
  • p.Thr24Ala Single submitter developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Thr424Lys Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Val413Phe Single submitter
  • p.Asp77His No assertion criteria Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Val413Ala No assertion criteria developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy

Conflicting classifications of pathogenicity 34

  • c.1369+5T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1370-3C>T Single submitter Inborn genetic diseases
  • c.227-5T>C Single submitter Inborn genetic diseases
  • c.3031-4C>G Single submitter Inborn genetic diseases
  • c.698+20G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.905-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala245Thr Single submitter developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Ala689Val Single submitter Inborn genetic diseases ⚠
  • p.Ala882Thr Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg110Cys Single submitter MORC2-related disorder ⚠
  • p.Arg153Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg179His Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg238Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg585Cys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg59Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg608Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg687Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg893Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg988Cys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asn963Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp323Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu422Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu757Gly Single submitter Inborn genetic diseases ⚠
  • p.Gly98Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.His376Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ile200Val Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Leu691Pro Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Lys427Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Lys86Asn Single submitter Inborn genetic diseases ⚠
  • p.Met63Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Pro712Ser Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ser926Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Tyr173Ser Single submitter Inborn genetic diseases ⚠
  • p.Val37Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠

Benign 36

Benign/Likely benign 22

  • c.1499-9T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.158-12del Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • c.1737+4C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.2193+15C>T Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • c.226+18T>C Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • c.2747+5_2747+6del Multiple submitters Inborn genetic diseases
  • c.2841+20C>T Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • c.3030+9G>C Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • c.699-20T>C Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • c.904+28G>C Multiple submitters
  • p.Ala313= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala78= Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Asn209Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu746= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.His135= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ile908= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Leu320= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Leu590= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ser861= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Thr21= Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Val298= Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • p.Val682Ile Multiple submitters Inborn genetic diseases

Likely benign 387

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1073+13C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.1074-26C>A Multiple submitters
  • c.123-14_123-10del Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.123-71C>G Multiple submitters
  • c.158-8T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.2193+12G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.2194-17C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.2194-7G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.2325+131C>T Multiple submitters
  • c.2326-73G>T Multiple submitters
  • c.2381-8A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.2522+11A>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.3030+7C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.587-28G>A Multiple submitters
  • c.905-11C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.*57G>T Multiple submitters
  • p.Ala306= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala448= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala741= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala884Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg585His Multiple submitters Inborn genetic diseases
  • p.Asn161= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asn624= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp347= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp784= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gln290= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gln792= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gln913= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gly408= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.His258= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Leu508= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Leu681= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Leu699= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Lys174= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Lys771= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Pro92= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ser239= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ser615= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ser773Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ser785= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ser785Leu Multiple submitters Inborn genetic diseases
  • p.Thr133= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Thr154= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Thr186= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Thr325= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Thr556= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Thr903= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Thr990= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Tyr950= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Val873= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.1073+15T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1073+8C>T Single submitter
  • c.1214+10del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1214+12C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1214+16A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1214+18A>G Single submitter
  • c.1214+9T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1215-14_1215-13del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1215-16C>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1215-18T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1215-44C>T Single submitter
  • c.1215-8C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.122+14A>C Single submitter
  • c.123-15C>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.123-6T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1370-17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1370-19A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1370-19A>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1370-49A>G Single submitter
  • c.1370-8C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1370-9G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1498+10G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1498+15T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1498+20C>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1498+20C>T Single submitter
  • c.1499-14T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1499-19G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1499-19G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.157+10G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.157+14T>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.157+20T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.157+293C>T Single submitter
  • c.158-13G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.158-19G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.158-5T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.158-9C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1604+10T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1604+16A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1604+17A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1604+20A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1604+3G>A Single submitter
  • c.1605-17G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1605-20G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1737+12A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1737+8G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1737+9G>T Single submitter
  • c.1738-12T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1738-15_1738-13del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1738-15A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1738-19_1738-17del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1812+14G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1812+14G>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1812+17T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1812+17T>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1813-16G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1813-6T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2193+14C>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2193+7C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2193+8G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2194-12C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2194-16G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2194-4C>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.226+10G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.226+12G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.226+9T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.227-15T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.227-160G>A Single submitter
  • c.227-16G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.227-8C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.227-9C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2325+11G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2325+11G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2325+128dup Single submitter
  • c.2325+135del Single submitter
  • c.2325+18G>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2325+67_2325+86del Single submitter
  • c.2326-10C>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2326-10C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2326-12C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2326-19T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2380+12G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2380+14G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2380+16G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2380+16G>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2380+16G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2380+17A>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2380+34G>C Single submitter
  • c.2380+7T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2380+8G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2381-10A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2381-12C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2381-189C>T Single submitter
  • c.2381-18C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2381-19C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2381-7T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2381-9C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2522+12A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2522+17G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2523-14T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2523-21_2523-20del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2523-8T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2747+14_2747+15del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2747+14T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2747+16G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2747+19T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2748-15C>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2748-6_2748-4del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2841+18T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2841+19T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2841+233C>G Single submitter
  • c.2842-13C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2842-15C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.3030+19C>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.3030+8C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.3030+9_3030+10delinsTT Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.3030+9G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.3031-15C>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.3031-19C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.3031-9C>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.3031-9C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.317+17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.317+19T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.317+7A>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.318-16T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.318-20C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.318-84A>G Single submitter
  • c.318-9C>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.426+16G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.426+8C>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.427-4A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.587-15A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.587-20A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.587-9G>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.68+16G>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.68+19C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.69-14A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.69-15dup Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.69-16G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.69-18T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.69-19T>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.69-306A>G Single submitter
  • c.69-7A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.69-8C>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.69-9T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.698+10G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.698+14G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.698+8T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.699-10C>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.699-10C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.699-44T>C Single submitter
  • c.825-7T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.825-8C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.904+15G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.904+19C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.904+7C>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.905-10T>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.905-14C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.905-20T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.905-40_905-19del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.905-8G>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.987+10C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.987+10del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.987+11G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.987+13C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.987+17G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.987+19C>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.987+19C>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.987+19C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.988-19C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.988-6G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.-187dup Single submitter
  • c.-324G>A Single submitter
  • c.-583C>T Single submitter
  • p.Ala1022= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala166= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala244= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala288= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala309= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala346= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala355= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala43= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala657= Single submitter
  • p.Ala673= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala689= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala732= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala786= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala814= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala969= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg155= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg254= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg300= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg314= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg389= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg535= Single submitter
  • p.Arg585= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg675= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg755= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg811= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg823= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg893His Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg988= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asn209= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asn904Ser Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asn917= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp1021= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp114= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp208= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp215= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp323= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp327= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp380= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp42= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp744= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp772= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp787= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Cys502= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Cys65= Single submitter
  • p.Gln1006= Single submitter
  • p.Gln224= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gln587= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu122= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu17= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu291= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu308= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu467= Single submitter
  • p.Glu482= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu532= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu558= Single submitter
  • p.Glu708Asp Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu757= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu800= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu843= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu895= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu949= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu984= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu989= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gly103= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gly403= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gly796= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gly845= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gly868= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gly874= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.His26= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.His297= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.His446= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.His798= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.His905= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ile1001= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ile216= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ile255= Single submitter Charcot-Marie-Tooth disease axonal type 2Z

Uncertain significance 542

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1074-7T>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.1605-3C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.2841+1G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • c.68+4A>C Multiple submitters Inborn genetic diseases
  • c.825-3C>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala1003Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala448Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala577Ser Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Ala678Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala741Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg155Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg238Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg283His Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg287Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg319His Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg343Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg343His Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg358Gly Multiple submitters ⚠
  • p.Arg377Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg377Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg484His Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg488Trp Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Arg535Gln Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Arg535Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg569Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg608His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg642Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg642Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg659Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg675Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg675Gly Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Arg675Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg736Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg823Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg920Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg968His Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg988His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn474Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn702Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn804Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn960Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp909Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Gln224His Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln878His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln96Glu Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu211Asp Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu435Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu482Asp Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu604= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu782Asp Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu890Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu984Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ile454Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ile881Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Leu695Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Leu901_Ser902insMet Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Lys234Glu Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Met109Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Met276Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Met393Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Pro157Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro220Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Pro606Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Pro731Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Pro75Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ser106= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ser268Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser388Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ser648Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser665Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ser698Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ser730Thr Multiple submitters developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Ser7Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ser80Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ser926Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Thr228Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr280Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr556Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Thr650Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr680Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Thr723Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Val143Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Val298Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val330Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val607Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Val621fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2Z
  • p.Val709Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val748Ala Multiple submitters Inborn genetic diseases ⚠
  • c.1074-20G>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1215-11_1215-10delinsCT Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.122+4T>C Single submitter Inborn genetic diseases
  • c.123-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1499-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.157+1G>A Single submitter
  • c.158-10T>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.158-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.158-5T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.158-5T>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1604+1G>T Single submitter developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
  • c.1738-17T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1812+1G>A Single submitter
  • c.1812+5dup Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1813-3dup Single submitter Inborn genetic diseases
  • c.1813-3T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.1813-6T>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.226+5G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2326-11T>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2326-1G>A Single submitter
  • c.2326-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2380+1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2380+6C>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2381-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2381-5G>A Single submitter
  • c.2522+17G>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2522+3A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2522+8C>T Single submitter
  • c.2747+4del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2747+6T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.2748-3T>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.3030+6C>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.317+13G>T Single submitter
  • c.426+58C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.427-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.587-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.698+1G>A Single submitter
  • c.824+1G>T Single submitter
  • c.905-24_905-5dup Single submitter Inborn genetic diseases
  • c.987+1_987+3dup Single submitter
  • c.987+4A>C Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.988-10A>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.988-27_988-18del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.988-2del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • c.988-5T>G Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.409GVV[3] Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala1003Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala1003Thr Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala1022Thr Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala12Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala152Pro Single submitter ⚠
  • p.Ala302Val Single submitter ⚠
  • p.Ala306Thr Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala306Val Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala32Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Ala359Ser Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala40Val Single submitter ⚠
  • p.Ala433Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala43Gly Single submitter ⚠
  • p.Ala457Thr Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala473Ser Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala490Thr Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala625Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala658Thr Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala662Thr Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala673Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala752Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala791Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala877Pro Single submitter ⚠
  • p.Ala877Val Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala882Pro Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala882Val Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala900Ser Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Ala975Asp Single submitter ⚠
  • p.Ala975Val Single submitter ⚠
  • p.Arg110His Single submitter ⚠
  • p.Arg153Trp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg155Trp Single submitter ⚠
  • p.Arg179Cys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg237Trp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg238His Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg238Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg241Cys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg241His Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg283Cys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg287Leu Single submitter ⚠
  • p.Arg307Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg307Trp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg314Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg314Leu Single submitter ⚠
  • p.Arg314Trp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg319Cys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg319Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg326Trp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg343Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg358Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg389Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg437Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg437Trp Single submitter ⚠
  • p.Arg441Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg487Cys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg489Lys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg506Lys Single submitter ⚠
  • p.Arg54Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg55Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg59Ter Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Arg600Lys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg612His Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg614Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg636Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg659Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg659Pro Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg659Trp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg687Leu Single submitter ⚠
  • p.Arg707Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg707Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg707Trp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg738Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg761Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg761Trp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg802His Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg802Leu Single submitter Inborn genetic diseases
  • p.Arg811Cys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg811His Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg823Trp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg850Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg893Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg893Pro Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg90Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg916Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg968Cys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg972Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg972Trp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg981Cys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg981His Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Arg985Thr Single submitter ⚠
  • p.Asn1000Asp Single submitter ⚠
  • p.Asn161His Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asn337Lys Single submitter ⚠
  • p.Asn373Ser Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asn426Ser Single submitter
  • p.Asn5His Single submitter ⚠
  • p.Asn938Ser Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asn963Ile Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp1013fs Single submitter
  • p.Asp1032Tyr Single submitter developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ⚠
  • p.Asp160Asn Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp160Glu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp250His Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp347Asn Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp347Gly Single submitter ⚠
  • p.Asp378Val Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp380Asn Single submitter ⚠
  • p.Asp415Glu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp453Asn Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp521Tyr Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp530Ile Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Asp74Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp778fs Single submitter
  • p.Asp787Glu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Asp787His Single submitter ⚠
  • p.Cys499= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gln187Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gln224Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln263Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln290Arg Single submitter ⚠
  • p.Gln334Glu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln400Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln400Ter Single submitter
  • p.Gln449Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln477Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln511Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln511Ter Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gln557Ter Single submitter
  • p.Gln563His Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln587Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln611Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln640Glu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln693His Single submitter ⚠
  • p.Gln694del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gln865Arg Single submitter ⚠
  • p.Gln866Ter Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Gln878Leu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln879Glu Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln913Arg Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln933Pro Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Gln966Ter Single submitter
  • p.Glu1010Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu1019Lys Single submitter ⚠
  • p.Glu163Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu170Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu181Ala Single submitter ⚠
  • p.Glu181Lys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu211Gly Single submitter ⚠
  • p.Glu236Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu291Ter Single submitter
  • p.Glu296Asp Single submitter ⚠
  • p.Glu365Val Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu435Asp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu445Gln Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu576Ala Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu596Asp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu660Ala Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu708Lys Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu724Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu747Val Single submitter MORC2-related disorder
  • p.Glu751del Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu775= Single submitter Charcot-Marie-Tooth disease axonal type 2Z
  • p.Glu775Gln Single submitter ⚠
  • p.Glu870Asp Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠
  • p.Glu872Gln Single submitter ⚠
  • p.Glu895Gly Single submitter Charcot-Marie-Tooth disease axonal type 2Z ⚠