NTRK3 — 128 ClinVar variants
All ClinVar germline NTRK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
1 Conflicting · 45 Benign · 1 Benign/Likely benign · 21 Likely benign · 60 Uncertain significance
Full NTRK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NTRK3 p.Ala589Thr Uncertain significance Single submitter
- NTRK3 p.Arg116Gln Uncertain significance Single submitter
- NTRK3 p.Arg14Gln Uncertain significance Single submitter
- NTRK3 p.Arg201Gly Uncertain significance Single submitter
- NTRK3 p.Arg343Leu Uncertain significance Single submitter
- NTRK3 p.Arg47Gln Uncertain significance Single submitter
- NTRK3 p.Arg787Cys Uncertain significance Single submitter
- NTRK3 p.Arg78Lys Uncertain significance Single submitter
- NTRK3 p.Arg89Leu Uncertain significance Single submitter
- NTRK3 p.Asn252Ser Uncertain significance Single submitter
- NTRK3 p.Asn388Lys Uncertain significance Single submitter
- NTRK3 p.Asn44Ser Uncertain significance Single submitter
- NTRK3 p.Asp411Glu Uncertain significance Single submitter
- NTRK3 p.Asp50Asn Uncertain significance Single submitter
- NTRK3 p.Asp624Gly Uncertain significance Single submitter
- NTRK3 p.Cys207Arg Uncertain significance Single submitter
- NTRK3 p.Gln389Arg Uncertain significance Single submitter
- NTRK3 p.Glu179Asp Uncertain significance Single submitter
- NTRK3 p.Glu351Val Uncertain significance Single submitter
- NTRK3 p.Glu427Asp Uncertain significance Single submitter
- NTRK3 p.Glu598Asp Uncertain significance Single submitter
- NTRK3 p.Ile321Leu Uncertain significance Single submitter
- NTRK3 p.Ile833Val Uncertain significance Single submitter
- NTRK3 p.Lys564Gln Uncertain significance Single submitter
- NTRK3 p.Lys822Glu Uncertain significance Single submitter
- NTRK3 p.Met171Leu Uncertain significance Single submitter
- NTRK3 p.Pro415Ser Uncertain significance Single submitter
- NTRK3 p.Pro498Ser Uncertain significance Single submitter
- NTRK3 p.Pro526Ser Uncertain significance Single submitter
- NTRK3 p.Pro612His Uncertain significance Single submitter
- NTRK3 p.Ser28Phe Uncertain significance Single submitter
- NTRK3 p.Ser296Ile Uncertain significance Single submitter
- NTRK3 p.Thr269Met Uncertain significance Single submitter
- NTRK3 p.Thr404Met Uncertain significance Single submitter
- NTRK3 p.Trp22Cys Uncertain significance Single submitter
- NTRK3 p.Tyr766Cys Uncertain significance Single submitter
- NTRK3 p.Val228Ile Uncertain significance Single submitter
- NTRK3 p.Val289Ala Uncertain significance Single submitter
- NTRK3 p.Val794Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- NTRK3 p.Asp50Tyr Uncertain significance Single submitter
- NTRK3 p.Glu750Asp Uncertain significance Single submitter
- NTRK3 p.Ile638Met Uncertain significance Single submitter
- NTRK3 p.Leu182Phe Uncertain significance Single submitter
- NTRK3 p.Leu363Val Uncertain significance Single submitter
- NTRK3 p.Leu560Val Uncertain significance Single submitter
- NTRK3 p.Pro120Leu Uncertain significance Single submitter
-
NTRK3 p.Thr93Met
Conflicting
Single submitter
Neonatal cardiomyopathy
- NTRK3 p.Val468Leu Uncertain significance Single submitter
-
NTRK3 p.Asp499Asn
Uncertain significance
No assertion criteria
premature menopause
All NTRK3 variants
Conflicting classifications of pathogenicity 1
- p.Thr93Met Single submitter Neonatal cardiomyopathy ⚠
Benign 45
- c.1396+120C>G Multiple submitters
- c.1585+202G>A Multiple submitters
- c.1889+77T>G Multiple submitters
- c.2133+252T>C Multiple submitters
- c.2175+223G>T Multiple submitters
- c.2334+38G>A Multiple submitters
- c.249-221T>A Multiple submitters
- c.395+63C>T Multiple submitters
- c.465-151C>A Multiple submitters
- c.465-195A>T Multiple submitters
- c.908-52A>G Multiple submitters
- c.*99G>A Multiple submitters
- p.Ala496= Multiple submitters
- p.Asn191= Multiple submitters
- p.Leu568= Multiple submitters
- c.1229-273G>C Single submitter
- c.1229-301A>C Single submitter
- c.1293+280A>T Single submitter
- c.1396+310C>T Single submitter
- c.1396+339A>G Single submitter
- c.1586-39049C>A Single submitter
- c.1586-39051G>A Single submitter
- c.1586-40804T>C Single submitter
- c.1716+260T>C Single submitter
- c.1717-271G>A Single submitter
- c.2134-110T>C Single submitter
- c.2134-175T>C Single submitter
- c.2334+164del Single submitter
- c.248+320dup Single submitter
- c.248+325T>A Single submitter
- c.323+120G>C Single submitter
- c.395+244C>T Single submitter
- c.396-150AAG[13] Single submitter
- c.396-150AAG[14] Single submitter
- c.396-150AAG[15] Single submitter
- c.396-150AAG[17] Single submitter
- c.396-150AAG[9] Single submitter
- c.623-260C>T Single submitter
- c.765+9C>G Single submitter
- c.*197AT[12] Single submitter
- p.Ala555= Single submitter
- p.Val501= Single submitter
- p.Ala589= No assertion criteria NTRK3-related disorder
- p.Arg645Cys No assertion criteria NTRK3-related disorder
- p.His486= No assertion criteria NTRK3-related disorder
Benign/Likely benign 1
- p.Leu268= Multiple submitters
Likely benign 21
- c.1205-4G>A Single submitter
- c.1229-28CCT[2] Single submitter
- c.2133+3573G>A Single submitter
- p.Asn226= Single submitter
- p.Asp584= Single submitter
- p.Asp752= Single submitter
- p.His632= Single submitter
- p.Leu363= Single submitter
- p.Phe698= Single submitter
- p.Ser28= Single submitter
- p.Ser492= Single submitter
- p.Thr103= Single submitter
- p.Thr220= Single submitter
- p.Val21Phe Single submitter
- p.Val606= Single submitter
- c.-1G>A No assertion criteria NTRK3-related disorder
- p.Gln172= No assertion criteria NTRK3-related disorder
- p.Ile391= No assertion criteria NTRK3-related disorder
- p.Leu310= No assertion criteria NTRK3-related disorder
- p.Pro562= No assertion criteria NTRK3-related disorder
- p.Ser345= No assertion criteria NTRK3-related disorder
Uncertain significance 60
- p.Ala589Thr Single submitter ⚠
- p.Arg116Gln Single submitter ⚠
- p.Arg14Gln Single submitter ⚠
- p.Arg201Gly Single submitter ⚠
- p.Arg343Leu Single submitter ⚠
- p.Arg46Pro Single submitter
- p.Arg47Gln Single submitter ⚠
- p.Arg518His Single submitter
- p.Arg787Cys Single submitter ⚠
- p.Arg78Lys Single submitter ⚠
- p.Arg89Leu Single submitter ⚠
- p.Asn252Ser Single submitter ⚠
- p.Asn375Asp Single submitter
- p.Asn388Lys Single submitter ⚠
- p.Asn44Ser Single submitter ⚠
- p.Asp411Glu Single submitter ⚠
- p.Asp50Asn Single submitter ⚠
- p.Asp50Tyr Single submitter ⚠
- p.Asp624Gly Single submitter ⚠
- p.Cys207Arg Single submitter ⚠
- p.Gln389Arg Single submitter ⚠
- p.Glu179Asp Single submitter ⚠
- p.Glu351Val Single submitter ⚠
- p.Glu427Asp Single submitter ⚠
- p.Glu598Asp Single submitter ⚠
- p.Glu750Asp Single submitter ⚠
- p.Gly487Ser Single submitter
- p.Gly51fs Single submitter
- p.His658fs Single submitter
- p.Ile204Phe Single submitter
- p.Ile321Leu Single submitter ⚠
- p.Ile638Met Single submitter ⚠
- p.Ile742Val Single submitter
- p.Ile833Val Single submitter ⚠
- p.Leu182Phe Single submitter ⚠
- p.Leu363Val Single submitter ⚠
- p.Leu560Val Single submitter ⚠
- p.Lys424fs Single submitter
- p.Lys564Gln Single submitter ⚠
- p.Lys768Arg Single submitter
- p.Lys822Glu Single submitter ⚠
- p.Met171Leu Single submitter ⚠
- p.Pro120Leu Single submitter ⚠
- p.Pro415Ser Single submitter ⚠
- p.Pro498Ser Single submitter ⚠
- p.Pro526Ser Single submitter ⚠
- p.Pro612His Single submitter ⚠
- p.Ser28Phe Single submitter ⚠
- p.Ser296Ile Single submitter ⚠
- p.Thr269Ala Single submitter
- p.Thr269Met Single submitter ⚠
- p.Thr404Met Single submitter ⚠
- p.Trp22Cys Single submitter ⚠
- p.Tyr766Cys Single submitter ⚠
- p.Val228Ile Single submitter ⚠
- p.Val289Ala Single submitter ⚠
- p.Val468Leu Single submitter ⚠
- p.Val794Ile Single submitter ⚠
- p.Asp499Asn No assertion criteria premature menopause ⚠
- p.Gln172Ter No assertion criteria NTRK3-related disorder