HTR2B — 70 ClinVar variants
All ClinVar germline HTR2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
6 Benign · 2 Likely benign · 62 Uncertain significance
Full HTR2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HTR2B p.Ala282Pro Uncertain significance Single submitter
- HTR2B p.Ala401Ser Uncertain significance Single submitter
- HTR2B p.Ala422Val Uncertain significance Single submitter
- HTR2B p.Ala97Val Uncertain significance Single submitter
- HTR2B p.Arg153His Uncertain significance Single submitter
- HTR2B p.Arg288Gln Uncertain significance Single submitter
- HTR2B p.Arg411His Uncertain significance Single submitter
- HTR2B p.Asp271Glu Uncertain significance Single submitter
- HTR2B p.Asp351Glu Uncertain significance Single submitter
- HTR2B p.Gln35His Uncertain significance Single submitter
- HTR2B p.Glu272Gly Uncertain significance Single submitter
- HTR2B p.Glu319Lys Uncertain significance Single submitter
- HTR2B p.Glu363Asp Uncertain significance Single submitter
- HTR2B p.Glu41Lys Uncertain significance Single submitter
- HTR2B p.Glu42Asp Uncertain significance Single submitter
- HTR2B p.Glu470Asp Uncertain significance Single submitter
- HTR2B p.Glu49Lys Uncertain significance Single submitter
- HTR2B p.Gly286Ala Uncertain significance Single submitter
- HTR2B p.Gly309Arg Uncertain significance Single submitter
- HTR2B p.Gly432Arg Uncertain significance Single submitter
- HTR2B p.Ile149Thr Uncertain significance Single submitter
- HTR2B p.Ile155Val Uncertain significance Single submitter
- HTR2B p.Ile186Thr Uncertain significance Single submitter
- HTR2B p.Ile234Thr Uncertain significance Single submitter
- HTR2B p.Ile27Asn Uncertain significance Single submitter
- HTR2B p.Ile415Phe Uncertain significance Single submitter
- HTR2B p.Ile458Thr Uncertain significance Single submitter
- HTR2B p.Leu113Phe Uncertain significance Single submitter
- HTR2B p.Leu123Pro Uncertain significance Single submitter
- HTR2B p.Leu382His Uncertain significance Single submitter
- HTR2B p.Leu54Val Uncertain significance Single submitter
- HTR2B p.Leu77Met Uncertain significance Single submitter
- HTR2B p.Leu81Pro Uncertain significance Single submitter
- HTR2B p.Lys211Arg Uncertain significance Single submitter
- HTR2B p.Lys280Asn Uncertain significance Single submitter
- HTR2B p.Lys280Gln Uncertain significance Single submitter
- HTR2B p.Lys311Thr Uncertain significance Single submitter
- HTR2B p.Met43Val Uncertain significance Single submitter
- HTR2B p.Met63Ile Uncertain significance Single submitter
- HTR2B p.Phe138Ser Uncertain significance Single submitter
- HTR2B p.Phe340Ile Uncertain significance Single submitter
- HTR2B p.Pro109Thr Uncertain significance Single submitter
- HTR2B p.Pro122Thr Uncertain significance Single submitter
- HTR2B p.Pro15Ala Uncertain significance Single submitter
- HTR2B p.Pro255Ser Uncertain significance Single submitter
- HTR2B p.Pro256Ser Uncertain significance Single submitter
- HTR2B p.Pro294Ser Uncertain significance Single submitter
- HTR2B p.Ser276Leu Uncertain significance Single submitter
- HTR2B p.Ser287Phe Uncertain significance Single submitter
- HTR2B p.Thr114Ile Uncertain significance Single submitter
- HTR2B p.Thr140Ile Uncertain significance Single submitter
- HTR2B p.Thr36Ser Uncertain significance Single submitter
- HTR2B p.Thr463Lys Uncertain significance Single submitter
- HTR2B p.Tyr5Ser Uncertain significance Single submitter
- HTR2B p.Val103Ala Uncertain significance Single submitter
- HTR2B p.Val26Ile Uncertain significance Single submitter
- HTR2B p.Val47Ala Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All HTR2B variants
Benign 6
- p.Asn438= Multiple submitters
- p.Gly51Glu Multiple submitters
- p.Met421Val Multiple submitters
- p.Trp31Arg Multiple submitters
- p.Val208Leu Multiple submitters
- p.Pro278= Single submitter
Likely benign 2
- p.Arg411Cys Single submitter
- p.Arg418Gln Single submitter
Uncertain significance 62
- p.Ala282Pro Single submitter ⚠
- p.Ala401Ser Single submitter ⚠
- p.Ala422Val Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg169Trp Single submitter ⚠
- p.Arg288Gln Single submitter ⚠
- p.Arg411His Single submitter ⚠
- p.Asn318Lys Single submitter ⚠
- p.Asp271Glu Single submitter ⚠
- p.Asp351Glu Single submitter ⚠
- p.Gln35His Single submitter ⚠
- p.Glu272Gly Single submitter ⚠
- p.Glu319Lys Single submitter ⚠
- p.Glu363Asp Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Glu42Asp Single submitter ⚠
- p.Glu470Asp Single submitter ⚠
- p.Glu49Lys Single submitter ⚠
- p.Gly286Ala Single submitter ⚠
- p.Gly309Arg Single submitter ⚠
- p.Gly432Arg Single submitter ⚠
- p.Ile110Asn Single submitter ⚠
- p.Ile149Thr Single submitter ⚠
- p.Ile155Val Single submitter ⚠
- p.Ile186Thr Single submitter ⚠
- p.Ile234Thr Single submitter ⚠
- p.Ile27Asn Single submitter ⚠
- p.Ile415Phe Single submitter ⚠
- p.Ile458Thr Single submitter ⚠
- p.Leu113Phe Single submitter ⚠
- p.Leu123Pro Single submitter ⚠
- p.Leu382His Single submitter ⚠
- p.Leu54Val Single submitter ⚠
- p.Leu77Met Single submitter ⚠
- p.Leu81Pro Single submitter ⚠
- p.Lys211Arg Single submitter ⚠
- p.Lys280Asn Single submitter ⚠
- p.Lys280Gln Single submitter ⚠
- p.Lys311Thr Single submitter ⚠
- p.Met43Val Single submitter ⚠
- p.Met63Ile Single submitter ⚠
- p.Phe138Ser Single submitter ⚠
- p.Phe340Ile Single submitter ⚠
- p.Pro109Thr Single submitter ⚠
- p.Pro122Thr Single submitter ⚠
- p.Pro15Ala Single submitter ⚠
- p.Pro255Ser Single submitter ⚠
- p.Pro256Ser Single submitter ⚠
- p.Pro294Ser Single submitter ⚠
- p.Ser276Leu Single submitter ⚠
- p.Ser287Phe Single submitter ⚠
- p.Thr114Ile Single submitter ⚠
- p.Thr140Ile Single submitter ⚠
- p.Thr36Ser Single submitter ⚠
- p.Thr463Lys Single submitter ⚠
- p.Tyr5Ser Single submitter ⚠
- p.Val103Ala Single submitter ⚠
- p.Val26Ile Single submitter ⚠
- p.Val329Leu Single submitter ⚠
- p.Val47Ala Single submitter ⚠
- p.Lys246Ter No assertion criteria Bardet-Biedl syndrome