MYT1 — 205 ClinVar variants
All ClinVar germline MYT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →
1 Likely pathogenic · 13 Benign · 5 Benign/Likely benign · 59 Likely benign · 127 Uncertain significance
Full MYT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 125
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MYT1 p.Glu264Gln
Likely pathogenic
Single submitter
intellectual disability
Predictors lean, ClinVar uncertain 111
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MYT1 p.Ala1072Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ala1089Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ala16Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ala187Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ala205Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ala325Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ala417Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ala623Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ala709Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ala722Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ala82Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg1012Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg127Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg127His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg231Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg347Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg347His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg375Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg393Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg42Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg561Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg639Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg724Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg724His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg730Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MYT1 p.Arg863Gly Uncertain significance Single submitter
-
MYT1 p.Arg922Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asn144Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asn538Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asn563Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asn783Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asp1096Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asp1096Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asp242Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asp653Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asp699Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asp762Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Cys236Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Gln1006Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Gln238Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Gln525Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Gln528Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu1010Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu1016Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu1044Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu113Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu203Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu258Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu262Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu263Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu270Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu366Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu397Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu608Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu68Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu85Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu85Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MYT1 p.Gly37Asp Uncertain significance Single submitter
-
MYT1 p.Gly449Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Gly694Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Gly848Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Gly875Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Gly93Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.His196Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.His480Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.His69Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.His69Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.His77Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ile1074Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ile146Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ile146Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ile793Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Leu786Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Lys1040Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Lys360Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Met599Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Pro20Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Pro326Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Pro336Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Pro527Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Pro78Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Pro880Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser1064Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser143Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser156Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser159Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser248Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser367Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser38Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser38Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser506Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser610Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser620Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser620Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser658Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser687Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser713Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser713Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser754Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser766Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser995Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Thr150Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Thr638Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Thr649Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Thr707Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Thr735Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Thr97Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Val195Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Val483Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Val554Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Val695Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 13
The independent predictors disagree with each other — read with care.
- MYT1 p.Glu289Lys Likely benign Multiple submitters
-
MYT1 p.Arg393Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Arg639His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Asp1088Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu262Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MYT1 p.Glu273Lys Uncertain significance Single submitter
-
MYT1 p.Glu296Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Glu301Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Met643Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Phe215Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Pro1103Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Thr846Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYT1 p.Ser820Arg
Likely benign
No assertion criteria
intellectual disability
All MYT1 variants
Likely pathogenic 1
- p.Glu264Gln Single submitter intellectual disability ⚠
Benign 13
- c.87-6C>T Multiple submitters
- p.His357Gln Multiple submitters
- p.Ser159= Multiple submitters
- p.Ser864= Multiple submitters
- c.55+10G>A Single submitter
- p.Arg541= Single submitter
- p.Asp653= Single submitter
- p.Glu273del Single submitter
- p.Val137Ile Single submitter
- p.Leu1071= No assertion criteria MYT1-related disorder
- p.Leu387= No assertion criteria MYT1-related disorder
- p.Ser913= No assertion criteria MYT1-related disorder
- p.Thr782Ser No assertion criteria MYT1-related disorder
Benign/Likely benign 5
Likely benign 59
- p.Asp261= Multiple submitters
- p.Cys1083= Multiple submitters
- p.Glu289Lys Multiple submitters ⚠
- p.Pro128= Multiple submitters
- c.1427-16C>G Single submitter
- c.1517+24_1517+119del Single submitter
- c.1517+24_1517+47del Single submitter
- c.1517+9A>T Single submitter
- c.1631+17A>G Single submitter
- c.2591+3G>A Single submitter
- c.2990-18G>A Single submitter
- c.397+12C>T Single submitter
- c.55+13C>T Single submitter
- p.Ala416= Single submitter
- p.Ala837= Single submitter
- p.Arg329Gln Single submitter Inborn genetic diseases
- p.Arg359Gln Single submitter Inborn genetic diseases
- p.Arg863= Single submitter
- p.Asp365= Single submitter
- p.Asp622= Single submitter
- p.Asp664= Single submitter
- p.Asp952= Single submitter
- p.Gln615Lys Single submitter Inborn genetic diseases
- p.Glu282= Single submitter
- p.Glu291= Single submitter
- p.Glu301= Single submitter
- p.Glu305_Glu306del Single submitter
- p.Glu306_Ala307insGluGluGluGluGlu Single submitter
- p.His40= Single submitter
- p.Ile146= Single submitter
- p.Pro1103= Single submitter
- p.Pro745= Single submitter
- p.Ser239= Single submitter
- p.Ser335= Single submitter
- p.Ser429Gly Single submitter
- p.Ser72= Single submitter
- p.Ser932= Single submitter
- p.Ser995= Single submitter
- p.Thr1095= Single submitter
- p.Thr119= Single submitter
- p.Val137= Single submitter
- p.Val225Ile Single submitter Inborn genetic diseases
- p.Val554= Single submitter
- c.397+10C>T No assertion criteria MYT1-related disorder
- c.*305G>T No assertion criteria MYT1-related disorder
- p.Ala623= No assertion criteria MYT1-related disorder
- p.Asp353= No assertion criteria MYT1-related disorder
- p.Glu116Lys No assertion criteria intellectual disability
- p.Glu219Gln No assertion criteria intellectual disability
- p.Glu306del No assertion criteria MYT1-related disorder
- p.Gly39= No assertion criteria MYT1-related disorder
- p.Gly64= No assertion criteria MYT1-related disorder
- p.His956= No assertion criteria MYT1-related disorder
- p.Leu79= No assertion criteria MYT1-related disorder
- p.Lys138Glu No assertion criteria MYT1-related disorder
- p.Pro710= No assertion criteria MYT1-related disorder
- p.Ser1019= No assertion criteria MYT1-related disorder
- p.Ser820Arg No assertion criteria intellectual disability ⚠
- p.Thr945= No assertion criteria MYT1-related disorder
Uncertain significance 127
- p.Ala1072Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1089Gly Single submitter Inborn genetic diseases ⚠
- p.Ala16Ser Single submitter Inborn genetic diseases ⚠
- p.Ala187Glu Single submitter Inborn genetic diseases ⚠
- p.Ala205Thr Single submitter Inborn genetic diseases ⚠
- p.Ala325Ser Single submitter Inborn genetic diseases ⚠
- p.Ala417Thr Single submitter Inborn genetic diseases ⚠
- p.Ala623Thr Single submitter Inborn genetic diseases ⚠
- p.Ala709Thr Single submitter Inborn genetic diseases ⚠
- p.Ala722Asp Single submitter Inborn genetic diseases ⚠
- p.Ala82Pro Single submitter Inborn genetic diseases ⚠
- p.Arg1012Gln Single submitter Inborn genetic diseases ⚠
- p.Arg127Cys Single submitter Inborn genetic diseases ⚠
- p.Arg127His Single submitter Inborn genetic diseases ⚠
- p.Arg231Leu Single submitter Inborn genetic diseases ⚠
- p.Arg347Cys Single submitter Inborn genetic diseases ⚠
- p.Arg347His Single submitter Inborn genetic diseases ⚠
- p.Arg375Gln Single submitter Inborn genetic diseases ⚠
- p.Arg393Cys Single submitter Inborn genetic diseases ⚠
- p.Arg393Gly Single submitter Inborn genetic diseases ⚠
- p.Arg42Gln Single submitter Inborn genetic diseases ⚠
- p.Arg561Gln Single submitter Inborn genetic diseases ⚠
- p.Arg570Lys Single submitter Inborn genetic diseases
- p.Arg639Cys Single submitter Inborn genetic diseases ⚠
- p.Arg639His Single submitter Inborn genetic diseases ⚠
- p.Arg724Cys Single submitter Inborn genetic diseases ⚠
- p.Arg724His Single submitter Inborn genetic diseases ⚠
- p.Arg730Gln Single submitter Inborn genetic diseases ⚠
- p.Arg863Gly Single submitter ⚠
- p.Arg922His Single submitter Inborn genetic diseases
- p.Arg922Leu Single submitter Inborn genetic diseases ⚠
- p.Asn144Lys Single submitter Inborn genetic diseases ⚠
- p.Asn538Ser Single submitter Inborn genetic diseases ⚠
- p.Asn563Asp Single submitter Inborn genetic diseases ⚠
- p.Asn783Asp Single submitter Inborn genetic diseases ⚠
- p.Asp1088Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1096Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1096Glu Single submitter Inborn genetic diseases ⚠
- p.Asp242Asn Single submitter Inborn genetic diseases ⚠
- p.Asp653Glu Single submitter Inborn genetic diseases ⚠
- p.Asp699Asn Single submitter Inborn genetic diseases ⚠
- p.Asp762Asn Single submitter Inborn genetic diseases ⚠
- p.Cys236Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1006Lys Single submitter Inborn genetic diseases ⚠
- p.Gln238Arg Single submitter Inborn genetic diseases ⚠
- p.Gln525Lys Single submitter Inborn genetic diseases ⚠
- p.Gln528Pro Single submitter Inborn genetic diseases ⚠
- p.Glu1010Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1016Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1044Lys Single submitter Inborn genetic diseases ⚠
- p.Glu113Lys Single submitter Inborn genetic diseases ⚠
- p.Glu203Gly Single submitter Inborn genetic diseases ⚠
- p.Glu258Lys Single submitter Inborn genetic diseases ⚠
- p.Glu262Asp Single submitter Inborn genetic diseases ⚠
- p.Glu262Lys Single submitter Inborn genetic diseases ⚠
- p.Glu263Asp Single submitter Inborn genetic diseases ⚠
- p.Glu270Asp Single submitter Inborn genetic diseases ⚠
- p.Glu273Lys Single submitter ⚠
- p.Glu296Lys Single submitter Inborn genetic diseases ⚠
- p.Glu301Lys Single submitter Inborn genetic diseases ⚠
- p.Glu366Gln Single submitter Inborn genetic diseases ⚠
- p.Glu397Lys Single submitter Inborn genetic diseases ⚠
- p.Glu608Lys Single submitter Inborn genetic diseases ⚠
- p.Glu68Lys Single submitter Inborn genetic diseases ⚠
- p.Glu85Gly Single submitter Inborn genetic diseases ⚠
- p.Glu85Lys Single submitter Inborn genetic diseases ⚠
- p.Gly37Asp Single submitter ⚠
- p.Gly449Asp Single submitter Inborn genetic diseases ⚠
- p.Gly694Asp Single submitter Inborn genetic diseases ⚠
- p.Gly848Ser Single submitter Inborn genetic diseases ⚠
- p.Gly875Ala Single submitter Inborn genetic diseases ⚠
- p.Gly916Ser Single submitter Inborn genetic diseases
- p.Gly93Ser Single submitter Inborn genetic diseases ⚠
- p.His196Gln Single submitter Inborn genetic diseases ⚠
- p.His480Tyr Single submitter Inborn genetic diseases ⚠
- p.His69Arg Single submitter Inborn genetic diseases ⚠
- p.His69Tyr Single submitter Inborn genetic diseases ⚠
- p.His77Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile1074Val Single submitter Inborn genetic diseases ⚠
- p.Ile146Thr Single submitter Inborn genetic diseases ⚠
- p.Ile146Val Single submitter Inborn genetic diseases ⚠
- p.Ile793Val Single submitter Inborn genetic diseases ⚠
- p.Leu786Met Single submitter Inborn genetic diseases ⚠
- p.Lys1040Arg Single submitter Inborn genetic diseases ⚠
- p.Lys360Glu Single submitter Inborn genetic diseases ⚠
- p.Lys603Glu Single submitter
- p.Met599Val Single submitter Inborn genetic diseases ⚠
- p.Met643Ile Single submitter Inborn genetic diseases ⚠
- p.Phe215Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1103Leu Single submitter Inborn genetic diseases ⚠
- p.Pro20Ser Single submitter Inborn genetic diseases ⚠
- p.Pro326Ser Single submitter Inborn genetic diseases ⚠
- p.Pro336Leu Single submitter Inborn genetic diseases ⚠
- p.Pro527Leu Single submitter Inborn genetic diseases ⚠
- p.Pro78Ala Single submitter Inborn genetic diseases ⚠
- p.Pro880Ser Single submitter Inborn genetic diseases ⚠
- p.Ser1064Asn Single submitter Inborn genetic diseases ⚠
- p.Ser143Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser156Arg Single submitter Inborn genetic diseases ⚠
- p.Ser159Asn Single submitter Inborn genetic diseases ⚠
- p.Ser248Phe Single submitter Inborn genetic diseases ⚠
- p.Ser367Leu Single submitter Inborn genetic diseases ⚠
- p.Ser38Ala Single submitter Inborn genetic diseases ⚠
- p.Ser38Leu Single submitter Inborn genetic diseases ⚠
- p.Ser506Arg Single submitter Inborn genetic diseases ⚠
- p.Ser610Leu Single submitter Inborn genetic diseases ⚠
- p.Ser620Leu Single submitter Inborn genetic diseases ⚠
- p.Ser620Pro Single submitter Inborn genetic diseases ⚠
- p.Ser658Cys Single submitter Inborn genetic diseases ⚠
- p.Ser687Gly Single submitter Inborn genetic diseases ⚠
- p.Ser713Thr Single submitter Inborn genetic diseases ⚠
- p.Ser713Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser754Cys Single submitter Inborn genetic diseases ⚠
- p.Ser766Leu Single submitter Inborn genetic diseases ⚠
- p.Ser995Asn Single submitter Inborn genetic diseases ⚠
- p.Thr1093Asn Single submitter Inborn genetic diseases
- p.Thr150Ile Single submitter Inborn genetic diseases ⚠
- p.Thr638Met Single submitter Inborn genetic diseases ⚠
- p.Thr649Met Single submitter Inborn genetic diseases ⚠
- p.Thr707Ala Single submitter Inborn genetic diseases ⚠
- p.Thr735Ser Single submitter Inborn genetic diseases ⚠
- p.Thr846Met Single submitter Inborn genetic diseases ⚠
- p.Thr97Ile Single submitter Inborn genetic diseases ⚠
- p.Val195Met Single submitter Inborn genetic diseases ⚠
- p.Val483Met Single submitter Inborn genetic diseases ⚠
- p.Val554Ile Single submitter Inborn genetic diseases ⚠
- p.Val695Met Single submitter Inborn genetic diseases ⚠