TMEM165 — 165 ClinVar variants
All ClinVar germline TMEM165 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 16 Benign · 66 Likely benign · 74 Uncertain significance
Full TMEM165 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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TMEM165 p.Arg126Cys
Conflicting
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Arg126His
Conflicting
Single submitter
TMEM165-related disorder
Predictors lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TMEM165 p.Ala310Val
Uncertain significance
Multiple submitters
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Asn81Ser
Uncertain significance
Multiple submitters
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Asp201Gly
Uncertain significance
Multiple submitters
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Ile169Thr
Uncertain significance
Multiple submitters
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Met134Val
Uncertain significance
Multiple submitters
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Phe245Ser
Uncertain significance
Multiple submitters
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Pro14Ser
Uncertain significance
Multiple submitters
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Thr218Met
Uncertain significance
Multiple submitters
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Thr244Ile
Uncertain significance
Multiple submitters
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Val275Ala
Uncertain significance
Multiple submitters
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Ala261Thr
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Ala75Thr
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Ala76Pro
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Ala86Thr Uncertain significance Single submitter
-
TMEM165 p.Ala99Thr
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Arg123His Uncertain significance Single submitter
-
TMEM165 p.Arg15Trp
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Arg176Gln
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Arg206Gln
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Arg289Gly Uncertain significance Single submitter
-
TMEM165 p.Arg298Gly
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Arg298Thr
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Arg42Trp
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Gln194Pro Uncertain significance Single submitter
- TMEM165 p.Gly132Ser Uncertain significance Single submitter
- TMEM165 p.Gly171Val Uncertain significance Single submitter
-
TMEM165 p.Gly62Val
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Ile302Leu Uncertain significance Single submitter
-
TMEM165 p.Ile318Val
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Leu230Phe
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Lys70Arg Uncertain significance Single submitter
-
TMEM165 p.Phe204Leu
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Pro155Arg
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Pro28Ala
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Pro55Gln
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Ser12Trp
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Ser182Asn Uncertain significance Single submitter
- TMEM165 p.Ser221Gly Uncertain significance Single submitter
- TMEM165 p.Ser234Leu Uncertain significance Single submitter
-
TMEM165 p.Thr218Ala
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Thr242Lys Uncertain significance Single submitter
-
TMEM165 p.Thr242Ser
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Thr73Ile
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Val129Met Uncertain significance Single submitter
-
TMEM165 p.Val238Ile
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Val238Leu Uncertain significance Single submitter
- TMEM165 p.Val259Ile Uncertain significance Single submitter
-
TMEM165 p.Val271Leu
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Val271Met
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Val307Gly Uncertain significance Single submitter
- TMEM165 p.Val307Ile Uncertain significance Single submitter
-
TMEM165 p.Val31Ala
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Val78Ile
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Ala261Glu
Uncertain significance
No assertion criteria
Hirschsprung disease
Predictors split 6
The independent predictors disagree with each other — read with care.
- TMEM165 p.Ile306Thr Uncertain significance Multiple submitters
-
TMEM165 p.Cys278Tyr
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Gly305Ala Uncertain significance Single submitter
-
TMEM165 p.Ile258Val
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
-
TMEM165 p.Met134Ile
Uncertain significance
Single submitter
TMEM165-congenital disorder of glycosylation
- TMEM165 p.Val157Phe Uncertain significance Single submitter
All TMEM165 variants
Pathogenic 3
- p.Trp249Ter Single submitter TMEM165-congenital disorder of glycosylation
- c.792+182G>A No assertion criteria TMEM165-congenital disorder of glycosylation
- p.Gly304Arg No assertion criteria TMEM165-congenital disorder of glycosylation
Likely pathogenic 1
- p.Val307fs Single submitter TMEM165-congenital disorder of glycosylation
Conflicting classifications of pathogenicity 5
- c.433+15C>A Single submitter TMEM165-congenital disorder of glycosylation
- p.Ala117= Single submitter TMEM165-congenital disorder of glycosylation
- p.Arg126Cys Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Arg126His Single submitter TMEM165-related disorder ⚠
- p.Val98= Single submitter TMEM165-congenital disorder of glycosylation
Benign 16
- c.793-132T>C Multiple submitters
- c.793-147C>T Multiple submitters
- c.793-209C>T Multiple submitters
- c.793-268T>C Multiple submitters
- c.899-15T>C Multiple submitters TMEM165-congenital disorder of glycosylation
- c.899-64C>T Multiple submitters
- c.-147T>C Multiple submitters TMEM165-congenital disorder of glycosylation
- c.*2_*3del Multiple submitters TMEM165-congenital disorder of glycosylation
- c.208-5del Single submitter TMEM165-congenital disorder of glycosylation
- c.208-5dup Single submitter TMEM165-congenital disorder of glycosylation
- c.792+479C>T Single submitter
- c.898+131_898+132insATAA Single submitter
- c.898+314A>G Single submitter
- c.*505T>A Single submitter TMEM165-congenital disorder of glycosylation
- p.Asn211= Single submitter TMEM165-congenital disorder of glycosylation
- p.Val307= Single submitter TMEM165-congenital disorder of glycosylation
Likely benign 66
- c.899-11C>G Multiple submitters TMEM165-congenital disorder of glycosylation
- c.899-14TC[3] Multiple submitters TMEM165-congenital disorder of glycosylation
- c.899-17T>A Multiple submitters TMEM165-congenital disorder of glycosylation
- c.*132A>C Multiple submitters
- c.*153T>C Multiple submitters
- p.Ala5= Multiple submitters TMEM165-congenital disorder of glycosylation
- p.Asp201= Multiple submitters TMEM165-congenital disorder of glycosylation
- c.207+16T>C Single submitter TMEM165-congenital disorder of glycosylation
- c.208-148G>A Single submitter
- c.208-15A>T Single submitter TMEM165-congenital disorder of glycosylation
- c.208-16G>A Single submitter TMEM165-congenital disorder of glycosylation
- c.208-230C>T Single submitter
- c.208-9T>C Single submitter
- c.208-9T>G Single submitter TMEM165-congenital disorder of glycosylation
- c.433+148_433+162del Single submitter
- c.433+17C>T Single submitter TMEM165-congenital disorder of glycosylation
- c.433+20T>G Single submitter
- c.433+7G>A Single submitter TMEM165-congenital disorder of glycosylation
- c.434-11A>G Single submitter TMEM165-congenital disorder of glycosylation
- c.434-17T>C Single submitter TMEM165-congenital disorder of glycosylation
- c.609+7C>T Single submitter TMEM165-congenital disorder of glycosylation
- c.792+11T>A Single submitter TMEM165-congenital disorder of glycosylation
- c.793-12G>A Single submitter TMEM165-congenital disorder of glycosylation
- c.793-13C>T Single submitter TMEM165-congenital disorder of glycosylation
- c.793-16dup Single submitter TMEM165-congenital disorder of glycosylation
- c.793-8G>T Single submitter TMEM165-congenital disorder of glycosylation
- c.898+16T>C Single submitter TMEM165-congenital disorder of glycosylation
- c.898+19A>C Single submitter TMEM165-congenital disorder of glycosylation
- c.898+8T>A Single submitter TMEM165-congenital disorder of glycosylation
- c.899-14T>C Single submitter TMEM165-congenital disorder of glycosylation
- c.899-15_899-12del Single submitter TMEM165-congenital disorder of glycosylation
- c.899-15_899-14del Single submitter TMEM165-congenital disorder of glycosylation
- c.899-16_899-14del Single submitter TMEM165-congenital disorder of glycosylation
- c.899-16_899-15insCT Single submitter TMEM165-congenital disorder of glycosylation
- c.899-9C>G Single submitter TMEM165-congenital disorder of glycosylation
- c.*482A>T Single submitter
- p.Ala27= Single submitter TMEM165-congenital disorder of glycosylation
- p.Ala270= Single submitter TMEM165-congenital disorder of glycosylation
- p.Ala310= Single submitter TMEM165-congenital disorder of glycosylation
- p.Ala312= Single submitter TMEM165-congenital disorder of glycosylation
- p.Ala96= Single submitter TMEM165-congenital disorder of glycosylation
- p.Arg10= Single submitter TMEM165-congenital disorder of glycosylation
- p.Arg126= Single submitter TMEM165-congenital disorder of glycosylation
- p.Gln52= Single submitter TMEM165-congenital disorder of glycosylation
- p.Gly186= Single submitter TMEM165-congenital disorder of glycosylation
- p.Gly272= Single submitter TMEM165-congenital disorder of glycosylation
- p.His277= Single submitter TMEM165-congenital disorder of glycosylation
- p.His41= Single submitter TMEM165-congenital disorder of glycosylation
- p.Ile154= Single submitter TMEM165-congenital disorder of glycosylation
- p.Ile169= Single submitter TMEM165-congenital disorder of glycosylation
- p.Ile306= Single submitter TMEM165-congenital disorder of glycosylation
- p.Leu143= Single submitter TMEM165-congenital disorder of glycosylation
- p.Leu241= Single submitter TMEM165-congenital disorder of glycosylation
- p.Leu260= Single submitter TMEM165-congenital disorder of glycosylation
- p.Leu279= Single submitter TMEM165-congenital disorder of glycosylation
- p.Leu283= Single submitter TMEM165-congenital disorder of glycosylation
- p.Leu309= Single submitter TMEM165-congenital disorder of glycosylation
- p.Pro213= Single submitter TMEM165-congenital disorder of glycosylation
- p.Pro63= Single submitter TMEM165-congenital disorder of glycosylation
- p.Thr128= Single submitter TMEM165-congenital disorder of glycosylation
- p.Thr220= Single submitter TMEM165-congenital disorder of glycosylation
- p.Val165= Single submitter TMEM165-congenital disorder of glycosylation
- p.Val259= Single submitter TMEM165-congenital disorder of glycosylation
- p.Val31= Single submitter TMEM165-congenital disorder of glycosylation
- c.433+9G>A No assertion criteria TMEM165-related disorder
- p.Ser163= No assertion criteria TMEM165-related disorder
Uncertain significance 74
- p.Ala310Val Multiple submitters TMEM165-congenital disorder of glycosylation ⚠
- p.Asn81Ser Multiple submitters TMEM165-congenital disorder of glycosylation ⚠
- p.Asp201Gly Multiple submitters TMEM165-congenital disorder of glycosylation ⚠
- p.Ile169Thr Multiple submitters TMEM165-congenital disorder of glycosylation ⚠
- p.Ile306Thr Multiple submitters ⚠
- p.Met134Val Multiple submitters TMEM165-congenital disorder of glycosylation ⚠
- p.Phe245Ser Multiple submitters TMEM165-congenital disorder of glycosylation ⚠
- p.Pro14Ser Multiple submitters TMEM165-congenital disorder of glycosylation ⚠
- p.Thr218Met Multiple submitters TMEM165-congenital disorder of glycosylation ⚠
- p.Thr244Ile Multiple submitters TMEM165-congenital disorder of glycosylation ⚠
- p.Val275Ala Multiple submitters TMEM165-congenital disorder of glycosylation ⚠
- c.792+4_792+5insTATTTGA Single submitter TMEM165-congenital disorder of glycosylation
- c.898+3A>G Single submitter TMEM165-congenital disorder of glycosylation
- c.899-6T>G Single submitter TMEM165-congenital disorder of glycosylation
- c.*121T>A Single submitter TMEM165-congenital disorder of glycosylation
- c.*236A>G Single submitter TMEM165-congenital disorder of glycosylation
- c.*397G>A Single submitter
- c.*436T>C Single submitter TMEM165-congenital disorder of glycosylation
- c.*627A>C Single submitter TMEM165-congenital disorder of glycosylation
- c.*643A>G Single submitter TMEM165-congenital disorder of glycosylation
- p.Ala261Thr Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Ala3Val Single submitter TMEM165-congenital disorder of glycosylation
- p.Ala75Thr Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Ala76Pro Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Ala86Thr Single submitter ⚠
- p.Ala99Thr Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Arg123His Single submitter ⚠
- p.Arg15Trp Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Arg176Gln Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Arg206Gln Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Arg289Gly Single submitter ⚠
- p.Arg298Gly Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Arg298Thr Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Arg42Trp Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Cys278Tyr Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Gln194Pro Single submitter ⚠
- p.Glu177Asp Single submitter
- p.Glu202Lys Single submitter
- p.Gly132Ser Single submitter ⚠
- p.Gly171Val Single submitter ⚠
- p.Gly305Ala Single submitter ⚠
- p.Gly62Val Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Ile258Val Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Ile302Leu Single submitter ⚠
- p.Ile318Val Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Leu230Phe Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Lys70Arg Single submitter ⚠
- p.Met134Ile Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Phe204Leu Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Phe245_Leu246del Single submitter TMEM165-congenital disorder of glycosylation
- p.Pro155Arg Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Pro28Ala Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Pro55Gln Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Ser12Trp Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Ser182Asn Single submitter ⚠
- p.Ser221Gly Single submitter ⚠
- p.Ser234Leu Single submitter ⚠
- p.Ser234Pro Single submitter
- p.Thr218Ala Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Thr242Lys Single submitter ⚠
- p.Thr242Ser Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Thr73Ile Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Val129Met Single submitter ⚠
- p.Val157Phe Single submitter ⚠
- p.Val238Ile Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Val238Leu Single submitter ⚠
- p.Val259Ile Single submitter ⚠
- p.Val271Leu Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Val271Met Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Val307Gly Single submitter ⚠
- p.Val307Ile Single submitter ⚠
- p.Val31Ala Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Val78Ile Single submitter TMEM165-congenital disorder of glycosylation ⚠
- p.Ala261Glu No assertion criteria Hirschsprung disease ⚠