NTSR1 — 93 ClinVar variants

All ClinVar germline NTSR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

10 Benign · 7 Likely benign · 76 Uncertain significance

Full NTSR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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.

Predictors split 16

The independent predictors disagree with each other — read with care.

All NTSR1 variants

Benign 10

c.917-6C>A Multiple submitters
p.Arg388Cys Multiple submitters
p.Arg45= Multiple submitters
p.Gln275His Multiple submitters
p.Gly301= Multiple submitters
p.Ser39= Multiple submitters
p.Tyr339Cys Multiple submitters ⚠
p.Ala72Val Single submitter
p.Phe341Leu Single submitter ⚠
p.Thr58Ile Single submitter ⚠

Likely benign 7

p.Asp400Asn Single submitter
p.Gly281Asp Single submitter
p.Leu114= Single submitter
p.Leu363= Single submitter
p.Pro336= Single submitter
p.Pro384= Single submitter
p.Ser330= Single submitter

Uncertain significance 76

p.Ala119Val Single submitter ⚠
p.Ala139Pro Single submitter ⚠
p.Ala15Thr Single submitter ⚠
p.Ala219Asp Single submitter ⚠
p.Ala22Val Single submitter ⚠
p.Ala260Thr Single submitter ⚠
p.Ala270Thr Single submitter ⚠
p.Ala29Val Single submitter ⚠
p.Ala311Asp Single submitter ⚠
p.Ala311Val Single submitter ⚠
p.Ala48Glu Single submitter ⚠
p.Arg184Leu Single submitter ⚠
p.Arg268Cys Single submitter ⚠
p.Arg294Ser Single submitter ⚠
p.Arg299Trp Single submitter ⚠
p.Arg303His Single submitter ⚠
p.Arg323Cys Single submitter ⚠
p.Arg372Leu Single submitter ⚠
p.Arg387Trp Single submitter ⚠
p.Arg388His Single submitter ⚠
p.Arg390Lys Single submitter ⚠
p.Arg414Leu Single submitter ⚠
p.Arg90Gln Single submitter ⚠
p.Asn256Lys Single submitter ⚠
p.Asp215Gly Single submitter ⚠
p.Asp400Gly Single submitter ⚠
p.Cys277Phe Single submitter ⚠
p.Cys327Ser Single submitter ⚠
p.Gln275Pro Single submitter ⚠
p.Glu27Gly Single submitter ⚠
p.Glu282Lys Single submitter ⚠
p.Gly220Asp Single submitter ⚠
p.Gly25Ala Single submitter ⚠
p.Gly281Val Single submitter ⚠
p.Gly301Ser Single submitter ⚠
p.Gly36Arg Single submitter ⚠
p.Gly77Val Single submitter ⚠
p.Gly80Asp Single submitter ⚠
p.Gly9Arg Single submitter ⚠
p.His131Tyr Single submitter
p.His172Tyr Single submitter ⚠
p.Ile252Asn Single submitter ⚠
p.Leu338Phe Single submitter ⚠
p.Leu363Val Single submitter
p.Leu54Pro Single submitter
p.Lys186Met Single submitter ⚠
p.Lys234Thr Single submitter
p.Met207Thr Single submitter ⚠
p.Met288Ile Single submitter ⚠
p.Met347Val Single submitter ⚠
p.Phe326Val Single submitter ⚠
p.Phe337Leu Single submitter ⚠
p.Phe86Val Single submitter ⚠
p.Pro11Arg Single submitter ⚠
p.Pro11Ser Single submitter ⚠
p.Pro11Thr Single submitter ⚠
p.Ser111Phe Single submitter ⚠
p.Ser161Asn Single submitter ⚠
p.Ser330Thr Single submitter ⚠
p.Ser396Leu Single submitter ⚠
p.Ser39Leu Single submitter ⚠
p.Ser43Leu Single submitter ⚠
p.Ser6Pro Single submitter ⚠
p.Ser99Asn Single submitter ⚠
p.Ser99Gly Single submitter ⚠
p.Thr152Ile Single submitter
p.Thr155Met Single submitter ⚠
p.Thr378Ala Single submitter ⚠
p.Trp316Arg Single submitter ⚠
p.Trp334Arg Single submitter ⚠
p.Tyr61Cys Single submitter ⚠
p.Val101Met Single submitter
p.Val235Ile Single submitter ⚠
p.Val321Met Single submitter ⚠
p.Val355Ile Single submitter ⚠
p.Val69Met Single submitter ⚠