MCTP2 — 227 ClinVar variants
All ClinVar germline MCTP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →
1 Conflicting · 18 Benign · 39 Likely benign · 169 Uncertain significance
Full MCTP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 157
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.
-
MCTP2 p.Met304Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 126
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MCTP2 p.Ala615Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCTP2 p.Thr227Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCTP2 p.Ala110Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ala123Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ala125Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ala333Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ala484Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ala58Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ala615Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ala712Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ala877Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg132Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg132Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg15Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg204Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg209Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg258Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg328Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg340Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg340Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg39Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- MCTP2 p.Arg46Cys Uncertain significance Single submitter
-
MCTP2 p.Arg47Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg495Pro
Uncertain significance
Single submitter
MCTP2-related disorder
-
MCTP2 p.Arg644His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg650His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg663Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg663His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg66Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg817Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg872Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MCTP2 p.Arg875His Uncertain significance Single submitter
-
MCTP2 p.Asn351Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asn425Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asn425Tyr
Uncertain significance
Single submitter
MCTP2-related disorder
-
MCTP2 p.Asn540Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asn703Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asn787Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asp296His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asp2Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asp585Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asp625Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asp734His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asp845His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Cys457Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Gln491His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Gln72Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Glu180Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Glu64Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Glu745Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Gly137Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Gly147Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Gly148Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Gly184Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Gly365Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Gly422Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Gly509Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.His428Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.His42Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.His568Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.His868Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ile21Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ile250Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ile492Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ile627Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ile716Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ile761Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Leu146Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Leu206Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Leu657Phe
Uncertain significance
Single submitter
MCTP2-related disorder
-
MCTP2 p.Leu698Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Leu706Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Leu844Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Lys349Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Lys423Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Lys550Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Lys617Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Lys655Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Lys754Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Lys856Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Met304Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Met413Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Phe586Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro127Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro191Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro398Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro398Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro532Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro602Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro71Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro794His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro835Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro89Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser135Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser176Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser440Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser658Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser74Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser7Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser81Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser81Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser92Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser94Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Thr118Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Thr637Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Thr687Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Thr691Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Tyr262Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Tyr605Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Tyr719Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Tyr859Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Tyr859His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val207Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val207Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val233Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val247Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val261Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val277Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val28Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val308Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val508Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val606Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val701Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val793Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val854Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ser730Asn
Uncertain significance
No assertion criteria
MCTP2-related disorder
Predictors split 30
The independent predictors disagree with each other — read with care.
- MCTP2 p.Leu796Val Benign Multiple submitters
-
MCTP2 p.Arg204Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg211Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg211His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg343Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg542Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg817Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Arg833Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asn720Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Asp302Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Glu744Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ile360Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Ile627Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Leu195His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Leu382Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Leu804Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Leu862Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Lys321Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Lys565Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Met763Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Phe789Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro630Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro724Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Pro724Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Thr792Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Trp354Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Tyr496His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Tyr812Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val308Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCTP2 p.Val420Met
Uncertain significance
Single submitter
Inborn genetic diseases
All MCTP2 variants
Conflicting classifications of pathogenicity 1
- p.Met304Leu Single submitter Inborn genetic diseases ⚠
Benign 18
- c.1583-6T>C Multiple submitters
- p.Ala60Thr Multiple submitters
- p.Ala695Thr Multiple submitters
- p.Ala877Thr Multiple submitters
- p.Arg340His Multiple submitters
- p.Arg39= Multiple submitters
- p.Ile825Leu Multiple submitters
- p.Leu796Val Multiple submitters ⚠
- p.Pro398= Multiple submitters
- p.Thr468= Multiple submitters
- c.1891-6T>C Single submitter
- c.2086-9T>G Single submitter
- p.Pro151= Single submitter
- p.Ser474= Single submitter
- p.Ser69= Single submitter
- c.1966-8A>T No assertion criteria MCTP2-related disorder
- c.2471-9A>G No assertion criteria MCTP2-related disorder
- p.Gly824= No assertion criteria MCTP2-related disorder
Likely benign 39
- c.970-10A>G Multiple submitters
- p.Arg343Gln Multiple submitters
- p.Asp839Asn Multiple submitters
- p.Gln98= Multiple submitters
- p.Gly203Asp Multiple submitters
- p.Leu188= Multiple submitters
- p.Leu706= Multiple submitters
- p.Leu864Pro Multiple submitters Inborn genetic diseases
- p.Thr545= Multiple submitters
- p.Tyr605= Multiple submitters
- c.1488+1G>C Single submitter
- c.1890+9A>G Single submitter
- p.Ala123Thr Single submitter
- p.Ala193= Single submitter
- p.Ala519= Single submitter
- p.Arg46His Single submitter
- p.Arg47His Single submitter
- p.Arg542Ter Single submitter
- p.Asn31= Single submitter
- p.Gly148Glu Single submitter Inborn genetic diseases
- p.Ile699= Single submitter
- p.Ile722= Single submitter
- p.Ile810Thr Single submitter Inborn genetic diseases
- p.Leu313= Single submitter
- p.Leu657= Single submitter
- p.Leu844Ile Single submitter
- p.Ser336= Single submitter
- p.Ser77= Single submitter
- p.Ser80fs Single submitter
- p.Thr214= Single submitter
- p.Thr674= Single submitter
- p.Val508= Single submitter
- p.Val774Ile Single submitter Inborn genetic diseases
- p.Arg39Gln No assertion criteria MCTP2-related disorder
- p.Asn136= No assertion criteria MCTP2-related disorder
- p.Pro794= No assertion criteria MCTP2-related disorder
- p.Thr792= No assertion criteria MCTP2-related disorder
- p.Val473= No assertion criteria MCTP2-related disorder
- p.Val606= No assertion criteria MCTP2-related disorder
Uncertain significance 169
- p.Ala615Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr227Met Multiple submitters Inborn genetic diseases ⚠
- p.Ala110Gly Single submitter Inborn genetic diseases ⚠
- p.Ala123Asp Single submitter Inborn genetic diseases ⚠
- p.Ala125Thr Single submitter Inborn genetic diseases ⚠
- p.Ala333Thr Single submitter Inborn genetic diseases ⚠
- p.Ala484Val Single submitter Inborn genetic diseases ⚠
- p.Ala523Val Single submitter Inborn genetic diseases
- p.Ala58Pro Single submitter Inborn genetic diseases ⚠
- p.Ala615Val Single submitter Inborn genetic diseases ⚠
- p.Ala712Thr Single submitter Inborn genetic diseases ⚠
- p.Ala877Gly Single submitter Inborn genetic diseases ⚠
- p.Arg132Gln Single submitter Inborn genetic diseases ⚠
- p.Arg132Trp Single submitter Inborn genetic diseases ⚠
- p.Arg15Gln Single submitter Inborn genetic diseases ⚠
- p.Arg204Gln Single submitter Inborn genetic diseases ⚠
- p.Arg204Trp Single submitter Inborn genetic diseases ⚠
- p.Arg209Gln Single submitter Inborn genetic diseases ⚠
- p.Arg211Cys Single submitter Inborn genetic diseases ⚠
- p.Arg211His Single submitter Inborn genetic diseases ⚠
- p.Arg258Ser Single submitter Inborn genetic diseases ⚠
- p.Arg328Trp Single submitter Inborn genetic diseases ⚠
- p.Arg340Cys Single submitter Inborn genetic diseases ⚠
- p.Arg340Leu Single submitter Inborn genetic diseases ⚠
- p.Arg343Trp Single submitter Inborn genetic diseases ⚠
- p.Arg39Trp Single submitter Inborn genetic diseases ⚠
- p.Arg46Cys Single submitter ⚠
- p.Arg47Cys Single submitter Inborn genetic diseases ⚠
- p.Arg495Pro Single submitter MCTP2-related disorder ⚠
- p.Arg495Ter Single submitter
- p.Arg542Gln Single submitter Inborn genetic diseases ⚠
- p.Arg644His Single submitter Inborn genetic diseases ⚠
- p.Arg650His Single submitter Inborn genetic diseases ⚠
- p.Arg663Cys Single submitter Inborn genetic diseases ⚠
- p.Arg663His Single submitter Inborn genetic diseases ⚠
- p.Arg66Trp Single submitter Inborn genetic diseases ⚠
- p.Arg817Gln Single submitter Inborn genetic diseases ⚠
- p.Arg817Trp Single submitter Inborn genetic diseases ⚠
- p.Arg833Gln Single submitter Inborn genetic diseases ⚠
- p.Arg872Gln Single submitter Inborn genetic diseases ⚠
- p.Arg872Trp Single submitter Inborn genetic diseases
- p.Arg875His Single submitter ⚠
- p.Asn351Asp Single submitter Inborn genetic diseases ⚠
- p.Asn425Asp Single submitter Inborn genetic diseases ⚠
- p.Asn425Tyr Single submitter MCTP2-related disorder ⚠
- p.Asn540Ser Single submitter Inborn genetic diseases ⚠
- p.Asn703Ser Single submitter Inborn genetic diseases ⚠
- p.Asn720Ser Single submitter Inborn genetic diseases ⚠
- p.Asn787Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp296His Single submitter Inborn genetic diseases ⚠
- p.Asp2Val Single submitter Inborn genetic diseases ⚠
- p.Asp302Val Single submitter Inborn genetic diseases ⚠
- p.Asp585Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp625Gly Single submitter Inborn genetic diseases ⚠
- p.Asp734His Single submitter Inborn genetic diseases ⚠
- p.Asp845His Single submitter Inborn genetic diseases ⚠
- p.Cys457Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln317Ter Single submitter
- p.Gln491His Single submitter Inborn genetic diseases ⚠
- p.Gln544Ter Single submitter
- p.Gln72Arg Single submitter Inborn genetic diseases ⚠
- p.Glu180Ala Single submitter Inborn genetic diseases ⚠
- p.Glu64Ala Single submitter Inborn genetic diseases ⚠
- p.Glu744Lys Single submitter Inborn genetic diseases ⚠
- p.Glu745Asp Single submitter Inborn genetic diseases ⚠
- p.Gly137Ser Single submitter Inborn genetic diseases ⚠
- p.Gly147Val Single submitter Inborn genetic diseases ⚠
- p.Gly148Arg Single submitter Inborn genetic diseases ⚠
- p.Gly184Ala Single submitter Inborn genetic diseases ⚠
- p.Gly365Glu Single submitter Inborn genetic diseases ⚠
- p.Gly422Arg Single submitter Inborn genetic diseases ⚠
- p.Gly509Ser Single submitter Inborn genetic diseases ⚠
- p.His428Tyr Single submitter Inborn genetic diseases ⚠
- p.His42Tyr Single submitter Inborn genetic diseases ⚠
- p.His546Arg Single submitter Inborn genetic diseases
- p.His568Tyr Single submitter Inborn genetic diseases ⚠
- p.His868Asp Single submitter Inborn genetic diseases ⚠
- p.Ile21Met Single submitter Inborn genetic diseases ⚠
- p.Ile250Val Single submitter Inborn genetic diseases ⚠
- p.Ile360Thr Single submitter Inborn genetic diseases ⚠
- p.Ile492Val Single submitter Inborn genetic diseases ⚠
- p.Ile627Leu Single submitter Inborn genetic diseases ⚠
- p.Ile627Met Single submitter Inborn genetic diseases ⚠
- p.Ile716Thr Single submitter Inborn genetic diseases ⚠
- p.Ile761Val Single submitter Inborn genetic diseases ⚠
- p.Ile810fs Single submitter
- p.Leu146Phe Single submitter Inborn genetic diseases ⚠
- p.Leu195His Single submitter Inborn genetic diseases ⚠
- p.Leu206Val Single submitter Inborn genetic diseases ⚠
- p.Leu382Val Single submitter Inborn genetic diseases ⚠
- p.Leu657Phe Single submitter MCTP2-related disorder ⚠
- p.Leu698Phe Single submitter Inborn genetic diseases ⚠
- p.Leu706Gln Single submitter Inborn genetic diseases ⚠
- p.Leu804Val Single submitter Inborn genetic diseases ⚠
- p.Leu844Val Single submitter Inborn genetic diseases ⚠
- p.Leu862Ser Single submitter Inborn genetic diseases ⚠
- p.Lys321Asn Single submitter Inborn genetic diseases ⚠
- p.Lys349Gln Single submitter Inborn genetic diseases ⚠
- p.Lys366Asn Single submitter Inborn genetic diseases
- p.Lys423Arg Single submitter Inborn genetic diseases ⚠
- p.Lys550Glu Single submitter Inborn genetic diseases ⚠
- p.Lys565Asn Single submitter Inborn genetic diseases ⚠
- p.Lys617Glu Single submitter Inborn genetic diseases ⚠
- p.Lys655Arg Single submitter Inborn genetic diseases ⚠
- p.Lys754Gln Single submitter Inborn genetic diseases ⚠
- p.Lys856Arg Single submitter Inborn genetic diseases ⚠
- p.Met304Thr Single submitter Inborn genetic diseases ⚠
- p.Met413Thr Single submitter Inborn genetic diseases ⚠
- p.Met708Thr Single submitter Inborn genetic diseases
- p.Met763Ile Single submitter Inborn genetic diseases ⚠
- p.Phe586Ile Single submitter Inborn genetic diseases ⚠
- p.Phe789Val Single submitter Inborn genetic diseases ⚠
- p.Pro127Arg Single submitter Inborn genetic diseases ⚠
- p.Pro18Leu Single submitter Inborn genetic diseases
- p.Pro191Thr Single submitter Inborn genetic diseases ⚠
- p.Pro398Leu Single submitter Inborn genetic diseases ⚠
- p.Pro398Thr Single submitter Inborn genetic diseases ⚠
- p.Pro532Ser Single submitter Inborn genetic diseases ⚠
- p.Pro602Leu Single submitter Inborn genetic diseases ⚠
- p.Pro630Leu Single submitter Inborn genetic diseases ⚠
- p.Pro71Arg Single submitter Inborn genetic diseases ⚠
- p.Pro724Ser Single submitter Inborn genetic diseases ⚠
- p.Pro724Thr Single submitter Inborn genetic diseases ⚠
- p.Pro794His Single submitter Inborn genetic diseases ⚠
- p.Pro835Ala Single submitter Inborn genetic diseases ⚠
- p.Pro89Leu Single submitter Inborn genetic diseases ⚠
- p.Ser135Arg Single submitter Inborn genetic diseases ⚠
- p.Ser176Cys Single submitter Inborn genetic diseases ⚠
- p.Ser440Leu Single submitter Inborn genetic diseases ⚠
- p.Ser658Thr Single submitter Inborn genetic diseases ⚠
- p.Ser74Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser7Pro Single submitter Inborn genetic diseases ⚠
- p.Ser81Asn Single submitter Inborn genetic diseases ⚠
- p.Ser81Thr Single submitter Inborn genetic diseases ⚠
- p.Ser92Ile Single submitter Inborn genetic diseases ⚠
- p.Ser94Arg Single submitter Inborn genetic diseases ⚠
- p.Thr118Ala Single submitter Inborn genetic diseases ⚠
- p.Thr637Ser Single submitter Inborn genetic diseases ⚠
- p.Thr687Ile Single submitter Inborn genetic diseases ⚠
- p.Thr691Ile Single submitter Inborn genetic diseases ⚠
- p.Thr792Met Single submitter Inborn genetic diseases ⚠
- p.Trp242Ter Single submitter MCTP2-related disorder
- p.Trp354Leu Single submitter Inborn genetic diseases ⚠
- p.Trp672Cys Single submitter Inborn genetic diseases
- p.Tyr229Cys Single submitter Inborn genetic diseases
- p.Tyr262Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr496His Single submitter Inborn genetic diseases ⚠
- p.Tyr605Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr719Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr812Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr859Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr859His Single submitter Inborn genetic diseases ⚠
- p.Val207Gly Single submitter Inborn genetic diseases ⚠
- p.Val207Phe Single submitter Inborn genetic diseases ⚠
- p.Val233Ile Single submitter Inborn genetic diseases ⚠
- p.Val247Ile Single submitter Inborn genetic diseases ⚠
- p.Val261Ile Single submitter Inborn genetic diseases ⚠
- p.Val277Ile Single submitter Inborn genetic diseases ⚠
- p.Val28Met Single submitter Inborn genetic diseases ⚠
- p.Val308Leu Single submitter Inborn genetic diseases ⚠
- p.Val308Met Single submitter Inborn genetic diseases ⚠
- p.Val420Met Single submitter Inborn genetic diseases ⚠
- p.Val508Asp Single submitter Inborn genetic diseases ⚠
- p.Val606Ile Single submitter Inborn genetic diseases ⚠
- p.Val701Leu Single submitter Inborn genetic diseases ⚠
- p.Val793Ile Single submitter Inborn genetic diseases ⚠
- p.Val854Asp Single submitter Inborn genetic diseases ⚠
- c.1891-1G>C No assertion criteria
- p.Ser730Asn No assertion criteria MCTP2-related disorder ⚠