HTR2C — 109 ClinVar variants
All ClinVar germline HTR2C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
4 Benign · 35 Likely benign · 70 Uncertain significance
Full HTR2C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HTR2C p.Ala278Gly Uncertain significance Single submitter
- HTR2C p.Ala31Val Uncertain significance Single submitter
- HTR2C p.Arg409Lys Uncertain significance Single submitter
- HTR2C p.Arg417Gln Uncertain significance Single submitter
- HTR2C p.Arg454Lys Uncertain significance Single submitter
- HTR2C p.Asp211Asn Uncertain significance Single submitter
- HTR2C p.Asp262Val Uncertain significance Single submitter
- HTR2C p.Cys337Phe Uncertain significance Single submitter
- HTR2C p.Gln397His Uncertain significance Single submitter
- HTR2C p.Glu442Gly Uncertain significance Single submitter
- HTR2C p.Ile329Val Uncertain significance Single submitter
- HTR2C p.Ile332Val Uncertain significance Single submitter
- HTR2C p.Ile33Thr Uncertain significance Single submitter
- HTR2C p.Ile374Leu Uncertain significance Single submitter
- HTR2C p.Ile434Val Uncertain significance Single submitter
- HTR2C p.Pro394Ser Uncertain significance Single submitter
- HTR2C p.Pro447Leu Uncertain significance Single submitter
- HTR2C p.Ser310Leu Uncertain significance Single submitter
- HTR2C p.Ser457Thr Uncertain significance Single submitter
- HTR2C p.Ser79Gly Uncertain significance Single submitter
- HTR2C p.Thr205Met Uncertain significance Single submitter
- HTR2C p.Tyr416Cys Uncertain significance Single submitter
- HTR2C p.Val185Ile Uncertain significance Single submitter
- HTR2C p.Val438Leu Uncertain significance Single submitter
- HTR2C p.Val451Ile Uncertain significance Single submitter
-
HTR2C p.Arg295Gly
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Arg400Ser
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Arg454Met
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Asn166Ser
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Asn304Ser
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Asn3Ser
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Asp36Glu
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Asp42Asn
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Gln437Pro
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Gly362Ala
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Gly408Arg
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Gly433Ala
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Gly69Ser
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Ile33Met
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Ile60Val
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Leu4Arg
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Leu58Phe
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Lys308Gln
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Pro159Ser
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Pro256Ser
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Pro257Arg
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Pro280Leu
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Ser260Cys
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Thr40Ala
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Val119Ile
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Val129Ile
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Val2Met
Uncertain significance
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Val61Ile
Uncertain significance
No assertion criteria
HTR2C-related disorder
Predictors split 7
The independent predictors disagree with each other — read with care.
- HTR2C p.Gly298Ser Uncertain significance Single submitter
- HTR2C p.His144Asn Uncertain significance Single submitter
- HTR2C p.Ile68Thr Uncertain significance Single submitter
- HTR2C p.Leu209Phe Uncertain significance Single submitter
-
HTR2C p.Ala171Val
Likely benign
No assertion criteria
HTR2C-related disorder
-
HTR2C p.Arg168Trp
Uncertain significance
No assertion criteria
prostate cancer
-
HTR2C p.Arg295Cys
Uncertain significance
No assertion criteria
HTR2C-related disorder
All HTR2C variants
Benign 4
- c.-697= Multiple submitters
- p.Ser23= Multiple submitters
- c.551-3008C>G Single submitter
- p.Lys292del Single submitter
Likely benign 35
- p.Ala7Val Single submitter
- p.Arg417= Single submitter
- p.Asp42His Single submitter
- p.Val389Ala Single submitter
- c.350-7_350-6del No assertion criteria HTR2C-related disorder
- c.551-10C>A No assertion criteria HTR2C-related disorder
- c.-7A>T No assertion criteria HTR2C-related disorder
- c.*2A>G No assertion criteria HTR2C-related disorder
- p.Ala171Val No assertion criteria HTR2C-related disorder ⚠
- p.Ala7= No assertion criteria HTR2C-related disorder
- p.Arg297= No assertion criteria HTR2C-related disorder
- p.Arg377= No assertion criteria HTR2C-related disorder
- p.Cys337= No assertion criteria HTR2C-related disorder
- p.Glu293= No assertion criteria HTR2C-related disorder
- p.Glu410= No assertion criteria HTR2C-related disorder
- p.His418= No assertion criteria HTR2C-related disorder
- p.His85= No assertion criteria HTR2C-related disorder
- p.Ile424= No assertion criteria HTR2C-related disorder
- p.Leu122= No assertion criteria HTR2C-related disorder
- p.Leu15= No assertion criteria HTR2C-related disorder
- p.Leu19= No assertion criteria HTR2C-related disorder
- p.Leu333= No assertion criteria HTR2C-related disorder
- p.Leu441= No assertion criteria HTR2C-related disorder
- p.Phe220= No assertion criteria HTR2C-related disorder
- p.Pro128= No assertion criteria HTR2C-related disorder
- p.Pro188= No assertion criteria HTR2C-related disorder
- p.Ser10= No assertion criteria HTR2C-related disorder
- p.Ser167= No assertion criteria HTR2C-related disorder
- p.Ser260Gly No assertion criteria HTR2C-related disorder
- p.Ser28= No assertion criteria HTR2C-related disorder
- p.Ser334= No assertion criteria HTR2C-related disorder
- p.Thr419Ala No assertion criteria HTR2C-related disorder
- p.Tyr153= No assertion criteria HTR2C-related disorder
- p.Val30= No assertion criteria HTR2C-related disorder
- p.Val78= No assertion criteria HTR2C-related disorder
Uncertain significance 70
- p.Ala278Gly Single submitter ⚠
- p.Ala31Val Single submitter ⚠
- p.Arg409Lys Single submitter ⚠
- p.Arg417Gln Single submitter ⚠
- p.Arg454Lys Single submitter ⚠
- p.Asp211Asn Single submitter ⚠
- p.Asp262Val Single submitter ⚠
- p.Cys337Phe Single submitter ⚠
- p.Gln397His Single submitter ⚠
- p.Glu442Gly Single submitter ⚠
- p.Gly298Ser Single submitter ⚠
- p.His144Asn Single submitter ⚠
- p.Ile329Val Single submitter ⚠
- p.Ile332Val Single submitter ⚠
- p.Ile33Thr Single submitter ⚠
- p.Ile374Leu Single submitter ⚠
- p.Ile434Val Single submitter ⚠
- p.Ile68Thr Single submitter ⚠
- p.Leu209Phe Single submitter ⚠
- p.Pro394Ser Single submitter ⚠
- p.Pro447Leu Single submitter ⚠
- p.Ser310Leu Single submitter ⚠
- p.Ser457Thr Single submitter ⚠
- p.Ser79Gly Single submitter ⚠
- p.Thr205Met Single submitter ⚠
- p.Tyr416Cys Single submitter ⚠
- p.Val185Ile Single submitter ⚠
- p.Val438Leu Single submitter ⚠
- p.Val451Ile Single submitter ⚠
- p.Val8= Single submitter HTR2C-related disorder
- c.349+2T>C No assertion criteria HTR2C-related disorder
- p.Arg168Trp No assertion criteria prostate cancer ⚠
- p.Arg288Ter No assertion criteria HTR2C-related disorder
- p.Arg295Cys No assertion criteria HTR2C-related disorder ⚠
- p.Arg295Gly No assertion criteria HTR2C-related disorder ⚠
- p.Arg400Ser No assertion criteria HTR2C-related disorder ⚠
- p.Arg454Met No assertion criteria HTR2C-related disorder ⚠
- p.Asn166Ser No assertion criteria HTR2C-related disorder ⚠
- p.Asn304Ser No assertion criteria HTR2C-related disorder ⚠
- p.Asn3Ser No assertion criteria HTR2C-related disorder ⚠
- p.Asp36Glu No assertion criteria HTR2C-related disorder ⚠
- p.Asp42Asn No assertion criteria HTR2C-related disorder ⚠
- p.Cys207= No assertion criteria HTR2C-related disorder
- p.Gln437Pro No assertion criteria HTR2C-related disorder ⚠
- p.Gly362Ala No assertion criteria HTR2C-related disorder ⚠
- p.Gly408Arg No assertion criteria HTR2C-related disorder ⚠
- p.Gly433Ala No assertion criteria HTR2C-related disorder ⚠
- p.Gly69Ser No assertion criteria HTR2C-related disorder ⚠
- p.Ile217= No assertion criteria HTR2C-related disorder
- p.Ile225= No assertion criteria HTR2C-related disorder
- p.Ile33Met No assertion criteria HTR2C-related disorder ⚠
- p.Ile60Val No assertion criteria HTR2C-related disorder ⚠
- p.Leu194= No assertion criteria HTR2C-related disorder
- p.Leu4Arg No assertion criteria HTR2C-related disorder ⚠
- p.Leu58Phe No assertion criteria HTR2C-related disorder ⚠
- p.Lys199Thr No assertion criteria HTR2C-related disorder
- p.Lys308Gln No assertion criteria HTR2C-related disorder ⚠
- p.Phe214= No assertion criteria HTR2C-related disorder
- p.Pro159Ser No assertion criteria HTR2C-related disorder ⚠
- p.Pro256Ser No assertion criteria HTR2C-related disorder ⚠
- p.Pro257Arg No assertion criteria HTR2C-related disorder ⚠
- p.Pro280Leu No assertion criteria HTR2C-related disorder ⚠
- p.Ser260Cys No assertion criteria HTR2C-related disorder ⚠
- p.Thr253= No assertion criteria HTR2C-related disorder
- p.Thr40Ala No assertion criteria HTR2C-related disorder ⚠
- p.Val119Ile No assertion criteria HTR2C-related disorder ⚠
- p.Val129Ile No assertion criteria HTR2C-related disorder ⚠
- p.Val215= No assertion criteria HTR2C-related disorder
- p.Val2Met No assertion criteria HTR2C-related disorder ⚠
- p.Val61Ile No assertion criteria HTR2C-related disorder ⚠