MED16 — 269 ClinVar variants
All ClinVar germline MED16 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 210 flagged for review →
13 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 5 Benign · 27 Likely benign · 222 Uncertain significance
Full MED16 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 210
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.
-
MED16 p.His69Asp
Pathogenic
No assertion criteria
Guillouet-Gordon syndrome
Predictors lean, ClinVar uncertain 146
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MED16 p.Ala101Thr Uncertain significance Single submitter
- MED16 p.Ala152Ser Uncertain significance Single submitter
- MED16 p.Ala214Val Uncertain significance Single submitter
- MED16 p.Ala279Val Uncertain significance Single submitter
- MED16 p.Ala287Thr Uncertain significance Single submitter
- MED16 p.Ala298Thr Uncertain significance Single submitter
- MED16 p.Ala298Val Uncertain significance Single submitter
- MED16 p.Ala355Val Uncertain significance Single submitter
- MED16 p.Ala36Val Uncertain significance Single submitter
- MED16 p.Ala383Val Uncertain significance Single submitter
- MED16 p.Ala38Val Uncertain significance Single submitter
- MED16 p.Ala403Pro Uncertain significance Single submitter
- MED16 p.Ala409Val Uncertain significance Single submitter
- MED16 p.Ala410Asp Uncertain significance Single submitter
- MED16 p.Ala428Thr Uncertain significance Single submitter
- MED16 p.Ala433Thr Uncertain significance Single submitter
- MED16 p.Ala531Asp Uncertain significance Single submitter
- MED16 p.Ala555Thr Uncertain significance Single submitter
- MED16 p.Ala755Val Uncertain significance Single submitter
- MED16 p.Ala763Val Uncertain significance Single submitter
- MED16 p.Ala789Thr Uncertain significance Single submitter
- MED16 p.Ala829Gly Uncertain significance Single submitter
- MED16 p.Ala83Thr Uncertain significance Single submitter
- MED16 p.Ala8Val Uncertain significance Single submitter
- MED16 p.Arg273Cys Uncertain significance Single submitter
- MED16 p.Arg350Cys Uncertain significance Single submitter
- MED16 p.Arg472Gln Uncertain significance Single submitter
- MED16 p.Arg513Cys Uncertain significance Single submitter
- MED16 p.Arg579Gln Uncertain significance Single submitter
- MED16 p.Arg60Cys Uncertain significance Single submitter
- MED16 p.Arg6Leu Uncertain significance Single submitter
- MED16 p.Arg6Trp Uncertain significance Single submitter
- MED16 p.Arg701His Uncertain significance Single submitter
- MED16 p.Arg741Gly Uncertain significance Single submitter
- MED16 p.Arg741His Uncertain significance Single submitter
- MED16 p.Arg749Cys Uncertain significance Single submitter
- MED16 p.Arg749Gly Uncertain significance Single submitter
- MED16 p.Arg749His Uncertain significance Single submitter
- MED16 p.Arg754Gln Uncertain significance Single submitter
- MED16 p.Arg754Trp Uncertain significance Single submitter
- MED16 p.Arg833Cys Uncertain significance Single submitter
- MED16 p.Arg876Cys Uncertain significance Single submitter
- MED16 p.Asp102Asn Uncertain significance Single submitter
- MED16 p.Asp55Gly Uncertain significance Single submitter
- MED16 p.Asp702Asn Uncertain significance Single submitter
- MED16 p.Asp736Tyr Uncertain significance Single submitter
- MED16 p.Asp869Gly Uncertain significance Single submitter
- MED16 p.Asp90Glu Uncertain significance Single submitter
- MED16 p.Cys717Phe Uncertain significance Single submitter
- MED16 p.Gln198Glu Uncertain significance Single submitter
- MED16 p.Gln323Arg Uncertain significance Single submitter
- MED16 p.Gln400His Uncertain significance Single submitter
- MED16 p.Gln501Arg Uncertain significance Single submitter
- MED16 p.Gln766His Uncertain significance Single submitter
- MED16 p.Gln776Lys Uncertain significance Single submitter
- MED16 p.Gln852His Uncertain significance Single submitter
- MED16 p.Glu509Lys Uncertain significance Single submitter
-
MED16 p.Glu657Lys
Uncertain significance
Single submitter
Guillouet-Gordon syndrome
- MED16 p.Glu711Asp Uncertain significance Single submitter
- MED16 p.Glu82Lys Uncertain significance Single submitter
- MED16 p.Glu874Val Uncertain significance Single submitter
- MED16 p.Gly103Arg Uncertain significance Single submitter
- MED16 p.Gly389Ser Uncertain significance Single submitter
- MED16 p.Gly426Ser Uncertain significance Single submitter
- MED16 p.Gly426Val Uncertain significance Single submitter
- MED16 p.Gly769Ser Uncertain significance Single submitter
- MED16 p.His282Asp Uncertain significance Single submitter
- MED16 p.His430Arg Uncertain significance Single submitter
- MED16 p.His430Tyr Uncertain significance Single submitter
- MED16 p.His643Tyr Uncertain significance Single submitter
- MED16 p.His786Asn Uncertain significance Single submitter
- MED16 p.His870Tyr Uncertain significance Single submitter
- MED16 p.Ile325Met Uncertain significance Single submitter
- MED16 p.Ile556Met Uncertain significance Single submitter
- MED16 p.Ile592Val Uncertain significance Single submitter
- MED16 p.Ile726Val Uncertain significance Single submitter
- MED16 p.Leu200Pro Uncertain significance Single submitter
- MED16 p.Leu382Val Uncertain significance Single submitter
-
MED16 p.Leu384Gln
Uncertain significance
Single submitter
Guillouet-Gordon syndrome
- MED16 p.Leu457Val Uncertain significance Single submitter
- MED16 p.Leu4Met Uncertain significance Single submitter
- MED16 p.Leu536Val Uncertain significance Single submitter
- MED16 p.Leu551Val Uncertain significance Single submitter
- MED16 p.Leu553Val Uncertain significance Single submitter
- MED16 p.Leu614Pro Uncertain significance Single submitter
-
MED16 p.Leu628Pro
Uncertain significance
Single submitter
Guillouet-Gordon syndrome
- MED16 p.Leu646Val Uncertain significance Single submitter
- MED16 p.Leu693Phe Uncertain significance Single submitter
- MED16 p.Leu729Val Uncertain significance Single submitter
- MED16 p.Leu748Ile Uncertain significance Single submitter
- MED16 p.Leu748Phe Uncertain significance Single submitter
- MED16 p.Lys574Arg Uncertain significance Single submitter
- MED16 p.Lys594Arg Uncertain significance Single submitter
- MED16 p.Met13Thr Uncertain significance Single submitter
- MED16 p.Met265Leu Uncertain significance Single submitter
- MED16 p.Met290Val Uncertain significance Single submitter
- MED16 p.Met419Leu Uncertain significance Single submitter
- MED16 p.Met419Thr Uncertain significance Single submitter
- MED16 p.Met49Ile Uncertain significance Single submitter
- MED16 p.Met529Val Uncertain significance Single submitter
- MED16 p.Met659Leu Uncertain significance Single submitter
- MED16 p.Pro261Leu Uncertain significance Single submitter
- MED16 p.Pro31Leu Uncertain significance Single submitter
- MED16 p.Pro327Ser Uncertain significance Single submitter
- MED16 p.Pro417Leu Uncertain significance Single submitter
- MED16 p.Pro427Ser Uncertain significance Single submitter
- MED16 p.Pro464Leu Uncertain significance Single submitter
- MED16 p.Pro538Ser Uncertain significance Single submitter
- MED16 p.Pro747Ser Uncertain significance Single submitter
- MED16 p.Pro774Leu Uncertain significance Single submitter
- MED16 p.Pro7Leu Uncertain significance Single submitter
-
MED16 p.Ser167Trp
Uncertain significance
Single submitter
Guillouet-Gordon syndrome
- MED16 p.Ser27Gly Uncertain significance Single submitter
- MED16 p.Ser299Thr Uncertain significance Single submitter
- MED16 p.Ser303Asn Uncertain significance Single submitter
- MED16 p.Ser326Tyr Uncertain significance Single submitter
- MED16 p.Ser32Leu Uncertain significance Single submitter
- MED16 p.Ser362Leu Uncertain significance Single submitter
- MED16 p.Ser437Thr Uncertain significance Single submitter
- MED16 p.Ser558Tyr Uncertain significance Single submitter
- MED16 p.Ser651Leu Uncertain significance Single submitter
- MED16 p.Ser861Cys Uncertain significance Single submitter
- MED16 p.Thr169Met Uncertain significance Single submitter
- MED16 p.Thr183Met Uncertain significance Single submitter
- MED16 p.Thr183Ser Uncertain significance Single submitter
- MED16 p.Thr201Met Uncertain significance Single submitter
- MED16 p.Thr366Ile Uncertain significance Single submitter
- MED16 p.Thr512Ala Uncertain significance Single submitter
- MED16 p.Thr512Met Uncertain significance Single submitter
- MED16 p.Thr571Met Uncertain significance Single submitter
- MED16 p.Thr610Ile Uncertain significance Single submitter
- MED16 p.Thr650Ile Uncertain significance Single submitter
- MED16 p.Thr792Met Uncertain significance Single submitter
- MED16 p.Thr792Ser Uncertain significance Single submitter
- MED16 p.Val18Ile Uncertain significance Single submitter
-
MED16 p.Val306Gly
Uncertain significance
Single submitter
Guillouet-Gordon syndrome
- MED16 p.Val318Met Uncertain significance Single submitter
- MED16 p.Val328Met Uncertain significance Single submitter
- MED16 p.Val354Met Uncertain significance Single submitter
- MED16 p.Val391Ile Uncertain significance Single submitter
- MED16 p.Val394Leu Uncertain significance Single submitter
- MED16 p.Val404Ile Uncertain significance Single submitter
- MED16 p.Val429Ile Uncertain significance Single submitter
- MED16 p.Val544Met Uncertain significance Single submitter
- MED16 p.Val839Met Uncertain significance Single submitter
- MED16 p.Val851Ile Uncertain significance Single submitter
Predictors split 63
The independent predictors disagree with each other — read with care.
- MED16 p.Arg456His Uncertain significance Multiple submitters
- MED16 p.Arg701Cys Uncertain significance Multiple submitters
- MED16 p.Ala219Thr Uncertain significance Single submitter
- MED16 p.Ala279Pro Uncertain significance Single submitter
- MED16 p.Ala442Thr Uncertain significance Single submitter
- MED16 p.Arg210Cys Uncertain significance Single submitter
- MED16 p.Arg288Trp Uncertain significance Single submitter
- MED16 p.Arg423Gly Uncertain significance Single submitter
- MED16 p.Arg423His Uncertain significance Single submitter
- MED16 p.Arg42Gly Uncertain significance Single submitter
- MED16 p.Arg472Trp Uncertain significance Single submitter
- MED16 p.Arg525Gln Uncertain significance Single submitter
-
MED16 p.Arg525Trp
Conflicting
Single submitter
Guillouet-Gordon syndrome
- MED16 p.Arg565His Uncertain significance Single submitter
- MED16 p.Arg663Cys Uncertain significance Single submitter
- MED16 p.Arg663Leu Uncertain significance Single submitter
- MED16 p.Arg741Ser Uncertain significance Single submitter
- MED16 p.Arg749Ser Uncertain significance Single submitter
- MED16 p.Arg784Ser Uncertain significance Single submitter
- MED16 p.Asp14Asn Uncertain significance Single submitter
-
MED16 p.Asp217Asn
Uncertain significance
Single submitter
Guillouet-Gordon syndrome
- MED16 p.Asp270Asn Uncertain significance Single submitter
- MED16 p.Asp347His Uncertain significance Single submitter
- MED16 p.Asp607Gly Uncertain significance Single submitter
- MED16 p.Asp684His Uncertain significance Single submitter
- MED16 p.Cys308Phe Uncertain significance Single submitter
- MED16 p.Gln619Glu Uncertain significance Single submitter
- MED16 p.Glu582Lys Uncertain significance Single submitter
- MED16 p.Gly128Ala Uncertain significance Single submitter
- MED16 p.Gly172Ala Uncertain significance Single submitter
- MED16 p.Gly186Ser Uncertain significance Single submitter
- MED16 p.Leu606Arg Uncertain significance Single submitter
- MED16 p.Leu611Val Uncertain significance Single submitter
- MED16 p.Leu655Phe Uncertain significance Single submitter
- MED16 p.Leu667Phe Uncertain significance Single submitter
- MED16 p.Leu785Gln Uncertain significance Single submitter
- MED16 p.Lys550Glu Uncertain significance Single submitter
- MED16 p.Met110Val Uncertain significance Single submitter
- MED16 p.Met290Ile Uncertain significance Single submitter
- MED16 p.Met806Thr Uncertain significance Single submitter
- MED16 p.Phe386Ile Uncertain significance Single submitter
- MED16 p.Pro175Leu Uncertain significance Single submitter
- MED16 p.Pro34Leu Uncertain significance Single submitter
- MED16 p.Pro360Thr Uncertain significance Single submitter
- MED16 p.Pro633Arg Uncertain significance Single submitter
- MED16 p.Pro670His Uncertain significance Single submitter
- MED16 p.Pro70Leu Uncertain significance Single submitter
- MED16 p.Ser460Phe Uncertain significance Single submitter
- MED16 p.Ser498Arg Uncertain significance Single submitter
- MED16 p.Ser78Leu Uncertain significance Single submitter
- MED16 p.Ser809Leu Uncertain significance Single submitter
- MED16 p.Thr559Ile Uncertain significance Single submitter
- MED16 p.Thr677Arg Uncertain significance Single submitter
- MED16 p.Trp179Cys Uncertain significance Single submitter
- MED16 p.Trp697Ser Uncertain significance Single submitter
- MED16 p.Trp819Arg Uncertain significance Single submitter
- MED16 p.Tyr17His Uncertain significance Single submitter
- MED16 p.Val190Met Uncertain significance Single submitter
- MED16 p.Val495Ala Uncertain significance Single submitter
- MED16 p.Val625Leu Uncertain significance Single submitter
- MED16 p.Val660Ala Uncertain significance Single submitter
- MED16 p.Val661Gly Uncertain significance Single submitter
-
MED16 p.Arg800Thr
Pathogenic
No assertion criteria
Guillouet-Gordon syndrome
All MED16 variants
Pathogenic 13
- c.1906-2A>G No assertion criteria Guillouet-Gordon syndrome
- p.Arg161Ter No assertion criteria Guillouet-Gordon syndrome
- p.Arg656Gln No assertion criteria Guillouet-Gordon syndrome
- p.Arg691fs No assertion criteria Guillouet-Gordon syndrome
- p.Arg800Thr No assertion criteria Guillouet-Gordon syndrome ⚠
- p.Arg822_Trp823insGluGlnArg No assertion criteria Guillouet-Gordon syndrome
- p.Asp129fs No assertion criteria syndromic intellectual disability
- p.Gly381Arg No assertion criteria Guillouet-Gordon syndrome
- p.His69Asp No assertion criteria Guillouet-Gordon syndrome ⚠
- p.Ile131Thr No assertion criteria Guillouet-Gordon syndrome
- p.Leu311Pro No assertion criteria syndromic intellectual disability
- p.Leu471_Arg472insAlaLeu No assertion criteria Guillouet-Gordon syndrome
- p.Val351Ala No assertion criteria Guillouet-Gordon syndrome
Likely pathogenic 1
- c.880-2A>G Single submitter Guillouet-Gordon syndrome
Conflicting classifications of pathogenicity 1
- p.Arg525Trp Single submitter Guillouet-Gordon syndrome ⚠
Benign 5
Likely benign 27
- c.1142-6_1142-5dup Single submitter
- c.1905+448C>T Single submitter
- c.1905+449A>C Single submitter
- c.1905+480_1905+497del Single submitter
- c.879+10C>T Single submitter
- c.880-5C>T Single submitter
- p.Ala425Thr Single submitter
- p.Arg833His Single submitter
- p.Asp648= Single submitter
- p.Asp736= Single submitter
- p.Asp768Asn Single submitter
- p.His859Tyr Single submitter
- p.Ile554= Single submitter
- p.Leu168= Single submitter
- p.Met49Thr Single submitter
- p.Phe171= Single submitter
- p.Pro327= Single submitter
- p.Pro877Leu Single submitter
- p.Ser196= Single submitter
- p.Ser448Asn Single submitter
- p.Ser680= Single submitter
- p.Ser735Gly Single submitter
- p.Ser861Pro Single submitter
- p.Thr540= Single submitter
- p.Thr581= Single submitter
- p.Val454Met Single submitter
- p.Val816= Single submitter
Uncertain significance 222
- p.Arg456His Multiple submitters ⚠
- p.Arg701Cys Multiple submitters ⚠
- c.1560+6G>T Single submitter
- c.2484-7_2499del Single submitter Guillouet-Gordon syndrome
- p.Ala101Thr Single submitter ⚠
- p.Ala152Ser Single submitter ⚠
- p.Ala214Val Single submitter ⚠
- p.Ala219Thr Single submitter ⚠
- p.Ala279Pro Single submitter ⚠
- p.Ala279Val Single submitter ⚠
- p.Ala287Thr Single submitter ⚠
- p.Ala298Thr Single submitter ⚠
- p.Ala298Val Single submitter ⚠
- p.Ala355Val Single submitter ⚠
- p.Ala36Val Single submitter ⚠
- p.Ala383Val Single submitter ⚠
- p.Ala38Val Single submitter ⚠
- p.Ala403Pro Single submitter ⚠
- p.Ala409Val Single submitter ⚠
- p.Ala410Asp Single submitter ⚠
- p.Ala428Thr Single submitter ⚠
- p.Ala433Thr Single submitter ⚠
- p.Ala442Thr Single submitter ⚠
- p.Ala531Asp Single submitter ⚠
- p.Ala555Thr Single submitter ⚠
- p.Ala755Val Single submitter ⚠
- p.Ala763Val Single submitter ⚠
- p.Ala789Thr Single submitter ⚠
- p.Ala829Gly Single submitter ⚠
- p.Ala83Thr Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Arg210Cys Single submitter ⚠
- p.Arg273Cys Single submitter ⚠
- p.Arg288Trp Single submitter ⚠
- p.Arg350Cys Single submitter ⚠
- p.Arg423Cys Single submitter
- p.Arg423Gly Single submitter ⚠
- p.Arg423His Single submitter ⚠
- p.Arg42Gly Single submitter ⚠
- p.Arg456Cys Single submitter
- p.Arg472Gln Single submitter ⚠
- p.Arg472Trp Single submitter ⚠
- p.Arg513Cys Single submitter ⚠
- p.Arg525Gln Single submitter ⚠
- p.Arg565His Single submitter ⚠
- p.Arg579Gln Single submitter ⚠
- p.Arg60Cys Single submitter ⚠
- p.Arg663Cys Single submitter ⚠
- p.Arg663Leu Single submitter ⚠
- p.Arg691Cys Single submitter
- p.Arg6Leu Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Arg701His Single submitter ⚠
- p.Arg741Gly Single submitter ⚠
- p.Arg741His Single submitter ⚠
- p.Arg741Ser Single submitter ⚠
- p.Arg749Cys Single submitter ⚠
- p.Arg749Gly Single submitter ⚠
- p.Arg749His Single submitter ⚠
- p.Arg749Ser Single submitter ⚠
- p.Arg754Gln Single submitter ⚠
- p.Arg754Trp Single submitter ⚠
- p.Arg784Ser Single submitter ⚠
- p.Arg833Cys Single submitter ⚠
- p.Arg842fs Single submitter Guillouet-Gordon syndrome
- p.Arg876Cys Single submitter ⚠
- p.Asn320Ile Single submitter
- p.Asp102Asn Single submitter ⚠
- p.Asp14Asn Single submitter ⚠
- p.Asp217Asn Single submitter Guillouet-Gordon syndrome ⚠
- p.Asp270Asn Single submitter ⚠
- p.Asp347His Single submitter ⚠
- p.Asp55Gly Single submitter ⚠
- p.Asp607Gly Single submitter ⚠
- p.Asp684His Single submitter ⚠
- p.Asp702Asn Single submitter ⚠
- p.Asp736Tyr Single submitter ⚠
- p.Asp869Gly Single submitter ⚠
- p.Asp90Glu Single submitter ⚠
- p.Cys308Phe Single submitter ⚠
- p.Cys717Phe Single submitter ⚠
- p.Gln198Glu Single submitter ⚠
- p.Gln323Arg Single submitter ⚠
- p.Gln400His Single submitter ⚠
- p.Gln501Arg Single submitter ⚠
- p.Gln619Glu Single submitter ⚠
- p.Gln766His Single submitter ⚠
- p.Gln776Lys Single submitter ⚠
- p.Gln852His Single submitter ⚠
- p.Glu509Lys Single submitter ⚠
- p.Glu582Lys Single submitter ⚠
- p.Glu657Lys Single submitter Guillouet-Gordon syndrome ⚠
- p.Glu711Asp Single submitter ⚠
- p.Glu82Lys Single submitter ⚠
- p.Glu874Val Single submitter ⚠
- p.Gly103Arg Single submitter ⚠
- p.Gly128Ala Single submitter ⚠
- p.Gly172Ala Single submitter ⚠
- p.Gly186Ser Single submitter ⚠
- p.Gly197Arg Single submitter
- p.Gly233Ser Single submitter
- p.Gly389Ser Single submitter ⚠
- p.Gly426Ser Single submitter ⚠
- p.Gly426Val Single submitter ⚠
- p.Gly769Ser Single submitter ⚠
- p.His282Asp Single submitter ⚠
- p.His430Arg Single submitter ⚠
- p.His430Tyr Single submitter ⚠
- p.His548Arg Single submitter
- p.His643Tyr Single submitter ⚠
- p.His786Asn Single submitter ⚠
- p.His870Tyr Single submitter ⚠
- p.Ile325Met Single submitter ⚠
- p.Ile556Met Single submitter ⚠
- p.Ile592Val Single submitter ⚠
- p.Ile726Val Single submitter ⚠
- p.Leu200Pro Single submitter ⚠
- p.Leu382Val Single submitter ⚠
- p.Leu384Gln Single submitter Guillouet-Gordon syndrome ⚠
- p.Leu457Val Single submitter ⚠
- p.Leu4Met Single submitter ⚠
- p.Leu536Val Single submitter ⚠
- p.Leu551Val Single submitter ⚠
- p.Leu553Val Single submitter ⚠
- p.Leu606Arg Single submitter ⚠
- p.Leu611Val Single submitter ⚠
- p.Leu614Pro Single submitter ⚠
- p.Leu628Pro Single submitter Guillouet-Gordon syndrome ⚠
- p.Leu646Val Single submitter ⚠
- p.Leu655Phe Single submitter ⚠
- p.Leu667Phe Single submitter ⚠
- p.Leu693Phe Single submitter ⚠
- p.Leu729Val Single submitter ⚠
- p.Leu748Ile Single submitter ⚠
- p.Leu748Phe Single submitter ⚠
- p.Leu785Gln Single submitter ⚠
- p.Lys550Glu Single submitter ⚠
- p.Lys574Arg Single submitter ⚠
- p.Lys594Arg Single submitter ⚠
- p.Met110Val Single submitter ⚠
- p.Met13Thr Single submitter ⚠
- p.Met265Leu Single submitter ⚠
- p.Met290Ile Single submitter ⚠
- p.Met290Val Single submitter ⚠
- p.Met419Leu Single submitter ⚠
- p.Met419Thr Single submitter ⚠
- p.Met49Ile Single submitter ⚠
- p.Met529Val Single submitter ⚠
- p.Met659fs Single submitter
- p.Met659Leu Single submitter ⚠
- p.Met806Thr Single submitter ⚠
- p.Phe386Ile Single submitter ⚠
- p.Pro175Leu Single submitter ⚠
- p.Pro261Leu Single submitter ⚠
- p.Pro31Leu Single submitter ⚠
- p.Pro327Ser Single submitter ⚠
- p.Pro34Leu Single submitter ⚠
- p.Pro360Thr Single submitter ⚠
- p.Pro417Leu Single submitter ⚠
- p.Pro427Ser Single submitter ⚠
- p.Pro464Leu Single submitter ⚠
- p.Pro538Ser Single submitter ⚠
- p.Pro633Arg Single submitter ⚠
- p.Pro670His Single submitter ⚠
- p.Pro70Leu Single submitter ⚠
- p.Pro747Ser Single submitter ⚠
- p.Pro774Leu Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Ser167Trp Single submitter Guillouet-Gordon syndrome ⚠
- p.Ser262Cys Single submitter
- p.Ser27Gly Single submitter ⚠
- p.Ser299Thr Single submitter ⚠
- p.Ser303Asn Single submitter ⚠
- p.Ser326Tyr Single submitter ⚠
- p.Ser32Leu Single submitter ⚠
- p.Ser362Leu Single submitter ⚠
- p.Ser437Thr Single submitter ⚠
- p.Ser460Phe Single submitter ⚠
- p.Ser498Arg Single submitter ⚠
- p.Ser537Leu Single submitter
- p.Ser558Tyr Single submitter ⚠
- p.Ser651Leu Single submitter ⚠
- p.Ser722Thr Single submitter
- p.Ser78Leu Single submitter ⚠
- p.Ser809Leu Single submitter ⚠
- p.Ser861Cys Single submitter ⚠
- p.Thr169Met Single submitter ⚠
- p.Thr183Met Single submitter ⚠
- p.Thr183Ser Single submitter ⚠
- p.Thr201Met Single submitter ⚠
- p.Thr366Ile Single submitter ⚠
- p.Thr512Ala Single submitter ⚠
- p.Thr512Met Single submitter ⚠
- p.Thr559Ile Single submitter ⚠
- p.Thr571Met Single submitter ⚠
- p.Thr610Ile Single submitter ⚠
- p.Thr650Ile Single submitter ⚠
- p.Thr677Arg Single submitter ⚠
- p.Thr792Met Single submitter ⚠
- p.Thr792Ser Single submitter ⚠
- p.Trp179Cys Single submitter ⚠
- p.Trp697Ser Single submitter ⚠
- p.Trp819Arg Single submitter ⚠
- p.Tyr17His Single submitter ⚠
- p.Tyr627Ser Single submitter
- p.Val18Ile Single submitter ⚠
- p.Val190Met Single submitter ⚠
- p.Val306Gly Single submitter Guillouet-Gordon syndrome ⚠
- p.Val318Met Single submitter ⚠
- p.Val328Met Single submitter ⚠
- p.Val354Met Single submitter ⚠
- p.Val391Ile Single submitter ⚠
- p.Val394Leu Single submitter ⚠
- p.Val404Ile Single submitter ⚠
- p.Val429Ile Single submitter ⚠
- p.Val495Ala Single submitter ⚠
- p.Val544Met Single submitter ⚠
- p.Val625Leu Single submitter ⚠
- p.Val660Ala Single submitter ⚠
- p.Val661Gly Single submitter ⚠
- p.Val839Met Single submitter ⚠
- p.Val851Ile Single submitter ⚠