TMEM138 — 190 ClinVar variants
All ClinVar germline TMEM138 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
6 Pathogenic · 6 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 11 Conflicting · 9 Benign · 1 Benign/Likely benign · 63 Likely benign · 89 Uncertain significance
Full TMEM138 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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.
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TMEM138 p.Ala127Val
Pathogenic/Likely pathogenic
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Tyr130Cys
Pathogenic/Likely pathogenic
Multiple submitters
Joubert syndrome and related disorders
-
TMEM138 p.Ala126Thr
Pathogenic
No assertion criteria
Joubert syndrome 16
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TMEM138 p.Arg154His
Conflicting
Single submitter
Joubert syndrome 16
-
TMEM138 p.Arg161Gln
Conflicting
Single submitter
Inborn genetic diseases
-
TMEM138 p.Ile83Val
Conflicting
Single submitter
Inborn genetic diseases
-
TMEM138 p.Val139Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TMEM138 p.Ala126Val
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Arg103His
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Asp46His
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Cys131Ser
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Ile56Val
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Lys155Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM138 p.Met118Leu
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Ser28Ala
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Ser92Arg
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Thr85Ser
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Val139Leu
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Val65Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM138 p.Ala127Ser
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Arg161Gly
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Asn106Ile
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Asn108Asp
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Asn108Ser
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Gln117Glu
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.His145Arg
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.His76Arg
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ile83Thr
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Leu58Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMEM138 p.Leu73Phe
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Leu9Val
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Phe120Tyr
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Phe15Leu
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ser12Tyr
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ser150Thr
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ser19Cys
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ser26Ala
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ser26Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMEM138 p.Ser5Arg
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ser5Gly
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ser94Cys
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Val87Gly
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 26
The independent predictors disagree with each other — read with care.
-
TMEM138 p.Arg103Cys
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Arg136Trp
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Arg154Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM138 p.Leu116Phe
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Thr63Ala
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Trp152Arg
Uncertain significance
Multiple submitters
Joubert syndrome 16
-
TMEM138 p.Tyr134Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM138 p.Ala68Asp
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Arg103Gly
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Asn25Ser
Conflicting
Single submitter
Joubert syndrome 16
-
TMEM138 p.Asp143Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMEM138 p.Asp21Glu
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Gln67Glu
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ile55Phe
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Leu153Val
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Leu18Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMEM138 p.Leu70Gln
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Met59Arg
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Phe27Ser
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Phe66Leu
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Pro144Leu
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Pro35Ser
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ser150Cys
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Ser150Phe
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Trp104Cys
Uncertain significance
Single submitter
Joubert syndrome 16
-
TMEM138 p.Val40Met
Uncertain significance
Single submitter
Joubert syndrome 16
All TMEM138 variants
Pathogenic 6
- p.Gln32Ter Single submitter Joubert syndrome 16
- p.Phe27_Ser28insTer Single submitter Joubert syndrome 16
- p.Trp104Ter Single submitter Joubert syndrome 16
- p.Trp98Ter Single submitter Joubert syndrome 16
- c.377-3C>G No assertion criteria Joubert syndrome 16
- p.Ala126Thr No assertion criteria Joubert syndrome 16 ⚠
Pathogenic/Likely pathogenic 6
- c.128+5G>A Multiple submitters TMEM138-related disorder
- p.Ala127Val Multiple submitters Joubert syndrome 16 ⚠
- p.Arg103fs Multiple submitters TMEM138-related disorder
- p.His96Arg Multiple submitters TMEM138-related disorder
- p.Leu13fs Multiple submitters TMEM138-related disorder
- p.Tyr130Cys Multiple submitters Joubert syndrome and related disorders ⚠
Likely pathogenic 5
- c.128+2T>G Single submitter Joubert syndrome 16
- c.300+1G>T Single submitter Joubert syndrome 16
- p.Lys33fs Single submitter Joubert syndrome 16
- p.Phe23fs Single submitter
- p.Gln45Arg No assertion criteria Meckel syndrome
Conflicting classifications of pathogenicity 11
- c.377-3C>T Single submitter Joubert syndrome 16
- p.Arg140= Single submitter Joubert syndrome 16
- p.Arg154His Single submitter Joubert syndrome 16 ⚠
- p.Arg161Gln Single submitter Inborn genetic diseases ⚠
- p.Asn25Ser Single submitter Joubert syndrome 16 ⚠
- p.Asn72= Single submitter Joubert syndrome 16
- p.Ile83Val Single submitter Inborn genetic diseases ⚠
- p.Lys77= Single submitter Joubert syndrome 16
- p.Phe27= Single submitter Joubert syndrome 16
- p.Ser109= Single submitter Joubert syndrome 16
- p.Val139Ile Single submitter Inborn genetic diseases ⚠
Benign 9
- c.300+292G>A Multiple submitters
- c.301-266A>G Multiple submitters
- c.376+207T>C Multiple submitters
- c.-139-106A>G Multiple submitters
- c.-24G>A Multiple submitters Joubert syndrome 16
- p.Val87= Multiple submitters Joubert syndrome 16
- c.129-11dup Single submitter Joubert syndrome 16
- c.376+214TTTG[6] Single submitter
- c.376+288G>T Single submitter
Benign/Likely benign 1
- p.Leu129= Multiple submitters Joubert syndrome 16
Likely benign 63
- c.128+7G>T Multiple submitters Joubert syndrome 16
- c.129-10A>G Multiple submitters Joubert syndrome 16
- c.129-126G>A Multiple submitters
- c.129-4A>G Multiple submitters Joubert syndrome 16
- c.300+238T>C Multiple submitters
- c.300+284G>A Multiple submitters
- c.377-11C>T Multiple submitters Joubert syndrome 16
- c.*229C>G Multiple submitters
- p.Ala138= Multiple submitters Joubert syndrome 16
- p.Ala68= Multiple submitters Joubert syndrome 16
- p.Gly142= Multiple submitters Joubert syndrome 16
- p.Thr34= Multiple submitters Joubert syndrome 16
- c.128+19T>G Single submitter Joubert syndrome 16
- c.128+8C>T Single submitter Joubert syndrome 16
- c.129-10dup Single submitter Joubert syndrome 16
- c.129-18T>A Single submitter Joubert syndrome 16
- c.129-19C>T Single submitter Joubert syndrome 16
- c.129-20A>T Single submitter Joubert syndrome 16
- c.129-8G>T Single submitter Joubert syndrome 16
- c.300+13G>A Single submitter Joubert syndrome 16
- c.300+17G>A Single submitter Joubert syndrome 16
- c.300+235CTTTT[4] Single submitter
- c.300+270dup Single submitter
- c.301-12C>T Single submitter Joubert syndrome 16
- c.301-13A>G Single submitter Joubert syndrome 16
- c.301-16C>T Single submitter Joubert syndrome 16
- c.301-18A>G Single submitter Joubert syndrome 16
- c.301-9C>A Single submitter Joubert syndrome 16
- c.376+134G>A Single submitter
- c.376+214TTTG[8] Single submitter
- c.376+83C>T Single submitter
- c.377-10C>G Single submitter Joubert syndrome 16
- c.377-17C>T Single submitter
- c.377-19T>C Single submitter Joubert syndrome 16
- c.377-224C>T Single submitter
- c.377-227C>G Single submitter
- c.377-278G>A Single submitter
- c.377-4A>G Single submitter Joubert syndrome 16
- c.377-8C>G Single submitter
- c.-139-267C>T Single submitter
- c.*1248G>A Single submitter
- c.*19del Single submitter
- p.Asn101= Single submitter Joubert syndrome 16
- p.Gly69= Single submitter Joubert syndrome 16
- p.His145= Single submitter Joubert syndrome 16
- p.His96= Single submitter Joubert syndrome 16
- p.Ile53= Single submitter Joubert syndrome 16
- p.Ile82= Single submitter Joubert syndrome 16
- p.Leu141= Single submitter Joubert syndrome 16
- p.Leu151= Single submitter Joubert syndrome 16
- p.Leu153= Single submitter Joubert syndrome 16
- p.Leu39= Single submitter Joubert syndrome 16
- p.Leu50= Single submitter Joubert syndrome 16
- p.Lys155= Single submitter Joubert syndrome 16
- p.Phe15= Single submitter Joubert syndrome 16
- p.Phe64= Single submitter Joubert syndrome 16
- p.Pro35= Single submitter Joubert syndrome 16
- p.Ser8= Single submitter Joubert syndrome 16
- p.Ser92= Single submitter Joubert syndrome 16
- p.Thr4= Single submitter Joubert syndrome 16
- p.Val128= Single submitter Joubert syndrome 16
- p.Val65= Single submitter Joubert syndrome 16
- c.-28C>T No assertion criteria TMEM138-related disorder
Uncertain significance 89
- c.128+3G>T Multiple submitters Joubert syndrome 16
- p.Ala126Val Multiple submitters Joubert syndrome 16 ⚠
- p.Arg103Cys Multiple submitters Joubert syndrome 16 ⚠
- p.Arg103His Multiple submitters Joubert syndrome 16 ⚠
- p.Arg136Trp Multiple submitters Joubert syndrome 16 ⚠
- p.Arg154Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp46His Multiple submitters Joubert syndrome 16 ⚠
- p.Cys131Ser Multiple submitters Joubert syndrome 16 ⚠
- p.Ile56Val Multiple submitters Joubert syndrome 16 ⚠
- p.Leu116Phe Multiple submitters Joubert syndrome 16 ⚠
- p.Lys155Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met118Leu Multiple submitters Joubert syndrome 16 ⚠
- p.Ser28Ala Multiple submitters Joubert syndrome 16 ⚠
- p.Ser92Arg Multiple submitters Joubert syndrome 16 ⚠
- p.Thr63Ala Multiple submitters Joubert syndrome 16 ⚠
- p.Thr85Ser Multiple submitters Joubert syndrome 16 ⚠
- p.Trp152Arg Multiple submitters Joubert syndrome 16 ⚠
- p.Tyr134Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val139Leu Multiple submitters Joubert syndrome 16 ⚠
- p.Val65Ile Multiple submitters Inborn genetic diseases ⚠
- c.128+16C>T Single submitter Joubert syndrome 16
- c.128+4C>T Single submitter
- c.129-19C>G Single submitter Joubert syndrome 16
- c.129-3C>T Single submitter Joubert syndrome 16
- c.301-401A>G Single submitter
- c.-157C>G Single submitter Joubert syndrome 16
- c.-164T>C Single submitter Joubert syndrome 16
- c.-169C>T Single submitter Joubert syndrome 16
- c.-17G>A Single submitter Joubert syndrome 16
- c.-23G>A Single submitter Joubert syndrome 16
- c.-55G>A Single submitter Joubert syndrome 16
- c.-71G>A Single submitter Joubert syndrome 16
- c.*228C>G Single submitter Joubert syndrome 16
- c.*264C>G Single submitter Joubert syndrome 16
- c.*354C>G Single submitter Joubert syndrome 16
- c.*407G>C Single submitter Joubert syndrome 16
- c.*547C>T Single submitter Joubert syndrome 16
- c.*548G>A Single submitter Joubert syndrome 16
- c.*92G>C Single submitter Joubert syndrome 16
- p.Ala127Ser Single submitter Joubert syndrome 16 ⚠
- p.Ala138_Val139insTer Single submitter
- p.Ala68Asp Single submitter Joubert syndrome 16 ⚠
- p.Arg103Gly Single submitter Joubert syndrome 16 ⚠
- p.Arg140fs Single submitter Joubert syndrome 16
- p.Arg161Gly Single submitter Joubert syndrome 16 ⚠
- p.Arg161Ter Single submitter Joubert syndrome 16
- p.Asn106Ile Single submitter Joubert syndrome 16 ⚠
- p.Asn108Asp Single submitter Joubert syndrome 16 ⚠
- p.Asn108Ser Single submitter Joubert syndrome 16 ⚠
- p.Asp143Asn Single submitter Inborn genetic diseases ⚠
- p.Asp21Glu Single submitter Joubert syndrome 16 ⚠
- p.Gln117Glu Single submitter Joubert syndrome 16 ⚠
- p.Gln159Ter Single submitter
- p.Gln67Glu Single submitter Joubert syndrome 16 ⚠
- p.His145Arg Single submitter Joubert syndrome 16 ⚠
- p.His76Arg Single submitter Joubert syndrome 16 ⚠
- p.Ile55Phe Single submitter Joubert syndrome 16 ⚠
- p.Ile83Thr Single submitter Joubert syndrome 16 ⚠
- p.Leu151fs Single submitter Joubert syndrome 16
- p.Leu153Val Single submitter Joubert syndrome 16 ⚠
- p.Leu18Val Single submitter Inborn genetic diseases ⚠
- p.Leu58Ile Single submitter Inborn genetic diseases ⚠
- p.Leu70Gln Single submitter Joubert syndrome 16 ⚠
- p.Leu73Phe Single submitter Joubert syndrome 16 ⚠
- p.Leu9Val Single submitter Joubert syndrome 16 ⚠
- p.Lys77Met Single submitter Joubert syndrome 16
- p.Met59Arg Single submitter Joubert syndrome 16 ⚠
- p.Phe120Tyr Single submitter Joubert syndrome 16 ⚠
- p.Phe15Leu Single submitter Joubert syndrome 16 ⚠
- p.Phe27Ser Single submitter Joubert syndrome 16 ⚠
- p.Phe66Leu Single submitter Joubert syndrome 16 ⚠
- p.Pro144fs Single submitter Joubert syndrome 16
- p.Pro144Leu Single submitter Joubert syndrome 16 ⚠
- p.Pro35Ser Single submitter Joubert syndrome 16 ⚠
- p.Ser12Tyr Single submitter Joubert syndrome 16 ⚠
- p.Ser150Cys Single submitter Joubert syndrome 16 ⚠
- p.Ser150Phe Single submitter Joubert syndrome 16 ⚠
- p.Ser150Thr Single submitter Joubert syndrome 16 ⚠
- p.Ser19Cys Single submitter Joubert syndrome 16 ⚠
- p.Ser26Ala Single submitter Joubert syndrome 16 ⚠
- p.Ser26Phe Single submitter Inborn genetic diseases ⚠
- p.Ser5Arg Single submitter Joubert syndrome 16 ⚠
- p.Ser5Gly Single submitter Joubert syndrome 16 ⚠
- p.Ser94Cys Single submitter Joubert syndrome 16 ⚠
- p.Ter163Cys Single submitter Joubert syndrome 16
- p.Trp104Cys Single submitter Joubert syndrome 16 ⚠
- p.Trp104Leu Single submitter Joubert syndrome 16
- p.Val40Met Single submitter Joubert syndrome 16 ⚠
- p.Val87Gly Single submitter Inborn genetic diseases ⚠