CHIT1 — 243 ClinVar variants
All ClinVar germline CHIT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →
62 Conflicting · 41 Benign · 1 Benign/Likely benign · 54 Likely benign · 85 Uncertain significance
Full CHIT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 116
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 21
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CHIT1 p.Ala149Ser
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ala165Thr
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ala170Ser
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ala193Gly
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ala201Thr
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ala257Ser
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ala442Val
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Arg382Gln
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Arg432Gln
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Asn63Lys
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Asp161Glu
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Gln145His
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Gln171His
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Gly134Ser
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Gly422Asp
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Met11Val
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ser226Arg
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ser4Thr
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Trp18Arg
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Tyr141Ser
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Val306Ala
Conflicting
Single submitter
Chitotriosidase deficiency
Predictors lean, ClinVar uncertain 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CHIT1 p.Arg432Trp
Uncertain significance
Multiple submitters
Chitotriosidase deficiency
- CHIT1 p.Ala111Thr Uncertain significance Single submitter
- CHIT1 p.Ala366Asp Uncertain significance Single submitter
-
CHIT1 p.Ala442Glu
Uncertain significance
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Ala8Thr Uncertain significance Single submitter
- CHIT1 p.Arg231Thr Uncertain significance Single submitter
- CHIT1 p.Arg269His Uncertain significance Single submitter
- CHIT1 p.Arg280Thr Uncertain significance Single submitter
- CHIT1 p.Arg3Gly Uncertain significance Single submitter
- CHIT1 p.Asn225Lys Uncertain significance Single submitter
- CHIT1 p.Asp363Gly Uncertain significance Single submitter
- CHIT1 p.Asp417His Uncertain significance Single submitter
- CHIT1 p.Gln249His Uncertain significance Single submitter
- CHIT1 p.Gln349Arg Uncertain significance Single submitter
- CHIT1 p.Gln416Lys Uncertain significance Single submitter
- CHIT1 p.Glu176Gly Uncertain significance Single submitter
- CHIT1 p.Glu196Lys Uncertain significance Single submitter
-
CHIT1 p.Gly19Ser
Uncertain significance
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Gly19Val Uncertain significance Single submitter
- CHIT1 p.Gly415Glu Uncertain significance Single submitter
-
CHIT1 p.Gly60Ser
Uncertain significance
Single submitter
Chitotriosidase deficiency
- CHIT1 p.His410Arg Uncertain significance Single submitter
- CHIT1 p.Leu260Pro Uncertain significance Single submitter
- CHIT1 p.Leu66Gln Uncertain significance Single submitter
- CHIT1 p.Lys230Asn Uncertain significance Single submitter
- CHIT1 p.Ser144Asn Uncertain significance Single submitter
- CHIT1 p.Ser339Arg Uncertain significance Single submitter
- CHIT1 p.Ser436Thr Uncertain significance Single submitter
- CHIT1 p.Thr172Ala Uncertain significance Single submitter
- CHIT1 p.Thr418Met Uncertain significance Single submitter
- CHIT1 p.Tyr195His Uncertain significance Single submitter
- CHIT1 p.Val221Ala Uncertain significance Single submitter
Predictors split 63
The independent predictors disagree with each other — read with care.
-
CHIT1 p.Arg128His
Uncertain significance
Multiple submitters
Chitotriosidase deficiency
-
CHIT1 p.Gly102Ser
Benign
Multiple submitters
Chitotriosidase deficiency
-
CHIT1 p.Pro451Arg
Uncertain significance
Multiple submitters
Chitotriosidase deficiency
-
CHIT1 p.Ala183Val
Benign
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ala359Gly
Uncertain significance
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Ala39Pro Uncertain significance Single submitter
-
CHIT1 p.Ala57Thr
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ala59Pro
Benign
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ala59Thr
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Arg116Cys
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Arg128Cys
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Arg154Cys
Uncertain significance
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Arg154His
Benign
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Arg177Cys
Conflicting
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Arg177Ser Uncertain significance Single submitter
- CHIT1 p.Arg231Trp Uncertain significance Single submitter
-
CHIT1 p.Arg269Cys
Benign
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Arg327Trp Uncertain significance Single submitter
-
CHIT1 p.Arg35Ser
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Arg374Leu
Uncertain significance
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Arg382Trp
Conflicting
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Arg40Cys Uncertain significance Single submitter
-
CHIT1 p.Asn30Ser
Conflicting
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Asn329Lys Uncertain significance Single submitter
- CHIT1 p.Asn371Tyr Uncertain significance Single submitter
-
CHIT1 p.Asn81Lys
Conflicting
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Asp108Tyr Uncertain significance Single submitter
- CHIT1 p.Asp244Val Uncertain significance Single submitter
-
CHIT1 p.Gln330Glu
Conflicting
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Glu74Gly Uncertain significance Single submitter
-
CHIT1 p.Glu74Lys
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Gly367Ser
Conflicting
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Gly453Ala Uncertain significance Single submitter
- CHIT1 p.Gly453Asp Uncertain significance Single submitter
-
CHIT1 p.Gly453Val
Benign
Single submitter
Chitotriosidase deficiency
- CHIT1 p.His215Arg Uncertain significance Single submitter
-
CHIT1 p.Ile55Asn
Benign
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Leu362Ser Uncertain significance Single submitter
- CHIT1 p.Leu427Pro Uncertain significance Single submitter
- CHIT1 p.Leu76Val Uncertain significance Single submitter
-
CHIT1 p.Lys348Asn
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Met109Ile
Benign
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Met356Thr Uncertain significance Single submitter
-
CHIT1 p.Met356Val
Benign
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Met61Val
Conflicting
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Phe419Cys Uncertain significance Single submitter
- CHIT1 p.Phe437Leu Uncertain significance Single submitter
- CHIT1 p.Pro256Ala Uncertain significance Single submitter
-
CHIT1 p.Pro256Leu
Conflicting
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Pro402Arg Likely benign Single submitter
- CHIT1 p.Pro429His Uncertain significance Single submitter
-
CHIT1 p.Pro451Ser
Conflicting
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Pro48Leu Uncertain significance Single submitter
-
CHIT1 p.Pro88Arg
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ser122Leu
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Ser181Arg
Benign
Single submitter
Chitotriosidase deficiency
- CHIT1 p.Ser288Phe Uncertain significance Single submitter
-
CHIT1 p.Ser459Cys
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Thr112Met
Benign
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Thr222Met
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Thr380Met
Conflicting
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Tyr141Asn
Uncertain significance
Single submitter
Chitotriosidase deficiency
-
CHIT1 p.Val247Met
Uncertain significance
Single submitter
Chitotriosidase deficiency
All CHIT1 variants
Conflicting classifications of pathogenicity 62
- c.1156+4A>G Single submitter Chitotriosidase deficiency
- c.26-4C>A Single submitter Chitotriosidase deficiency
- c.314+14G>A Single submitter Chitotriosidase deficiency
- c.480+12C>T Single submitter Chitotriosidase deficiency
- c.56-6G>A Single submitter Chitotriosidase deficiency
- c.56-8C>T Single submitter Chitotriosidase deficiency
- c.605+10A>T Single submitter Chitotriosidase deficiency
- p.Ala149= Single submitter Chitotriosidase deficiency
- p.Ala149Ser Single submitter Chitotriosidase deficiency ⚠
- p.Ala165Thr Single submitter Chitotriosidase deficiency ⚠
- p.Ala170Ser Single submitter Chitotriosidase deficiency ⚠
- p.Ala183= Single submitter Chitotriosidase deficiency
- p.Ala193Gly Single submitter Chitotriosidase deficiency ⚠
- p.Ala201Thr Single submitter Chitotriosidase deficiency ⚠
- p.Ala257Ser Single submitter Chitotriosidase deficiency ⚠
- p.Ala442= Single submitter Chitotriosidase deficiency
- p.Ala442Val Single submitter Chitotriosidase deficiency ⚠
- p.Ala57Thr Single submitter Chitotriosidase deficiency ⚠
- p.Ala59Thr Single submitter Chitotriosidase deficiency ⚠
- p.Arg116Cys Single submitter Chitotriosidase deficiency ⚠
- p.Arg128Cys Single submitter Chitotriosidase deficiency ⚠
- p.Arg177Cys Single submitter Chitotriosidase deficiency ⚠
- p.Arg269= Single submitter Chitotriosidase deficiency
- p.Arg35Ser Single submitter Chitotriosidase deficiency ⚠
- p.Arg382Gln Single submitter Chitotriosidase deficiency ⚠
- p.Arg382Trp Single submitter Chitotriosidase deficiency ⚠
- p.Arg432Gln Single submitter Chitotriosidase deficiency ⚠
- p.Asn30Ser Single submitter Chitotriosidase deficiency ⚠
- p.Asn63Lys Single submitter Chitotriosidase deficiency ⚠
- p.Asn81Lys Single submitter Chitotriosidase deficiency ⚠
- p.Asp161Glu Single submitter Chitotriosidase deficiency ⚠
- p.Asp328= Single submitter Chitotriosidase deficiency
- p.Cys450= Single submitter Chitotriosidase deficiency
- p.Gln145His Single submitter Chitotriosidase deficiency ⚠
- p.Gln171His Single submitter Chitotriosidase deficiency ⚠
- p.Gln330Glu Single submitter Chitotriosidase deficiency ⚠
- p.Glu74Lys Single submitter Chitotriosidase deficiency ⚠
- p.Gly134Ser Single submitter Chitotriosidase deficiency ⚠
- p.Gly367Ser Single submitter Chitotriosidase deficiency ⚠
- p.Gly422Asp Single submitter Chitotriosidase deficiency ⚠
- p.Gly97Arg Single submitter Chitotriosidase deficiency
- p.Leu260= Single submitter Chitotriosidase deficiency
- p.Leu387= Single submitter Chitotriosidase deficiency
- p.Lys253= Single submitter Chitotriosidase deficiency
- p.Lys348Asn Single submitter Chitotriosidase deficiency ⚠
- p.Met11Val Single submitter Chitotriosidase deficiency ⚠
- p.Met61Val Single submitter Chitotriosidase deficiency ⚠
- p.Pro256Leu Single submitter Chitotriosidase deficiency ⚠
- p.Pro376Ser Single submitter Chitotriosidase deficiency
- p.Pro451Ser Single submitter Chitotriosidase deficiency ⚠
- p.Pro88Arg Single submitter Chitotriosidase deficiency ⚠
- p.Ser122= Single submitter Chitotriosidase deficiency
- p.Ser122Leu Single submitter Chitotriosidase deficiency ⚠
- p.Ser226Arg Single submitter Chitotriosidase deficiency ⚠
- p.Ser459Cys Single submitter Chitotriosidase deficiency ⚠
- p.Ser4Thr Single submitter Chitotriosidase deficiency ⚠
- p.Thr222Met Single submitter Chitotriosidase deficiency ⚠
- p.Thr380Met Single submitter Chitotriosidase deficiency ⚠
- p.Trp18Arg Single submitter Chitotriosidase deficiency ⚠
- p.Tyr141Ser Single submitter Chitotriosidase deficiency ⚠
- p.Tyr195= Single submitter Chitotriosidase deficiency
- p.Val306Ala Single submitter Chitotriosidase deficiency ⚠
Benign 41
- c.258-6T>C Multiple submitters Chitotriosidase deficiency
- p.Ala442Gly Multiple submitters Chitotriosidase deficiency
- p.Arg40His Multiple submitters Chitotriosidase deficiency
- p.Gly102Ser Multiple submitters Chitotriosidase deficiency ⚠
- p.Thr255= Multiple submitters Chitotriosidase deficiency
- p.Thr255Ser Multiple submitters Chitotriosidase deficiency
- p.Trp358Ter Multiple submitters Chitotriosidase deficiency
- c.1155_1156+2del Single submitter Chitotriosidase deficiency
- c.258-3C>T Single submitter Chitotriosidase deficiency
- c.26-15C>T Single submitter Chitotriosidase deficiency
- c.481-6C>A Single submitter Chitotriosidase deficiency
- c.*534T>G Single submitter Chitotriosidase deficiency
- p.Ala183Val Single submitter Chitotriosidase deficiency ⚠
- p.Ala211Thr Single submitter Chitotriosidase deficiency
- p.Ala39Ser Single submitter Chitotriosidase deficiency
- p.Ala59Pro Single submitter Chitotriosidase deficiency ⚠
- p.Arg154His Single submitter Chitotriosidase deficiency ⚠
- p.Arg269Cys Single submitter Chitotriosidase deficiency ⚠
- p.Arg327Gln Single submitter Chitotriosidase deficiency
- p.Arg3Pro Single submitter Chitotriosidase deficiency
- p.Asn114Ser Single submitter Chitotriosidase deficiency
- p.Asn458Thr Single submitter Chitotriosidase deficiency
- p.Cys370Tyr Single submitter Chitotriosidase deficiency
- p.Gln167= Single submitter Chitotriosidase deficiency
- p.Gln448Glu Single submitter Chitotriosidase deficiency
- p.Glu234Asp Single submitter Chitotriosidase deficiency
- p.Gly353= Single submitter Chitotriosidase deficiency
- p.Gly422= Single submitter Chitotriosidase deficiency
- p.Gly453Val Single submitter Chitotriosidase deficiency ⚠
- p.Ile55Asn Single submitter Chitotriosidase deficiency ⚠
- p.Leu381Pro Single submitter Chitotriosidase deficiency
- p.Lys23Asn Single submitter Chitotriosidase deficiency
- p.Met109Ile Single submitter Chitotriosidase deficiency ⚠
- p.Met300Ile Single submitter Chitotriosidase deficiency
- p.Met356Val Single submitter Chitotriosidase deficiency ⚠
- p.Ser181Arg Single submitter Chitotriosidase deficiency ⚠
- p.Ser258Arg Single submitter Chitotriosidase deficiency
- p.Thr112Met Single submitter Chitotriosidase deficiency ⚠
- p.Val150Ile Single submitter Chitotriosidase deficiency
- p.Val243Met Single submitter Chitotriosidase deficiency
- p.Val322fs Single submitter Chitotriosidase deficiency
Benign/Likely benign 1
- p.Gly354Arg Multiple submitters Chitotriosidase deficiency
Likely benign 54
- c.25+8G>T Multiple submitters Chitotriosidase deficiency
- c.1029+9C>G Single submitter Chitotriosidase deficiency
- c.1029+9C>T Single submitter Chitotriosidase deficiency
- c.1030-12C>T Single submitter Chitotriosidase deficiency
- c.1157-18T>C Single submitter Chitotriosidase deficiency
- c.25+11G>A Single submitter Chitotriosidase deficiency
- c.25+17T>C Single submitter
- c.25+7C>T Single submitter Chitotriosidase deficiency
- c.25+8G>A Single submitter Chitotriosidase deficiency
- c.258-11G>A Single submitter Chitotriosidase deficiency
- c.26-22C>T Single submitter
- c.480+17C>T Single submitter Chitotriosidase deficiency
- c.481-15G>A Single submitter Chitotriosidase deficiency
- c.55+11T>A Single submitter Chitotriosidase deficiency
- c.55+20G>T Single submitter Chitotriosidase deficiency
- c.56-20T>G Single submitter Chitotriosidase deficiency
- c.56-9A>G Single submitter Chitotriosidase deficiency
- c.729+5G>A Single submitter Chitotriosidase deficiency
- p.Ala123= Single submitter Chitotriosidase deficiency
- p.Ala170= Single submitter Chitotriosidase deficiency
- p.Ala182= Single submitter
- p.Ala239= Single submitter Chitotriosidase deficiency
- p.Ala366= Single submitter Chitotriosidase deficiency
- p.Arg125Lys Single submitter
- p.Arg327= Single submitter Chitotriosidase deficiency
- p.Arg3Trp Single submitter
- p.Asn242= Single submitter Chitotriosidase deficiency
- p.Asp108= Single submitter Chitotriosidase deficiency
- p.Asp73= Single submitter Chitotriosidase deficiency
- p.Gln249= Single submitter Chitotriosidase deficiency
- p.Gln421= Single submitter Chitotriosidase deficiency
- p.Gln448= Single submitter Chitotriosidase deficiency
- p.Glu305= Single submitter Chitotriosidase deficiency
- p.Gly236= Single submitter Chitotriosidase deficiency
- p.Gly268Arg Single submitter Chitotriosidase deficiency
- p.Gly333= Single submitter Chitotriosidase deficiency
- p.Gly426= Single submitter Chitotriosidase deficiency
- p.Ile96= Single submitter Chitotriosidase deficiency
- p.Leu397= Single submitter Chitotriosidase deficiency
- p.Lys296= Single submitter Chitotriosidase deficiency
- p.Phe101= Single submitter Chitotriosidase deficiency
- p.Phe58= Single submitter
- p.Pro402Arg Single submitter ⚠
- p.Pro451= Single submitter Chitotriosidase deficiency
- p.Ser240= Single submitter Chitotriosidase deficiency
- p.Ser345Gly Single submitter Chitotriosidase deficiency
- p.Ser67Ile Single submitter Chitotriosidase deficiency
- p.Thr380= Single submitter Chitotriosidase deficiency
- p.Thr418= Single submitter Chitotriosidase deficiency
- p.Thr69Ile Single submitter Chitotriosidase deficiency
- p.Tyr267= Single submitter Chitotriosidase deficiency
- p.Tyr438= Single submitter Chitotriosidase deficiency
- p.Tyr56= Single submitter Chitotriosidase deficiency
- p.Tyr77= Single submitter Chitotriosidase deficiency
Uncertain significance 85
- c.-13G>A Multiple submitters Chitotriosidase deficiency
- c.*119C>T Multiple submitters Chitotriosidase deficiency
- p.Arg128His Multiple submitters Chitotriosidase deficiency ⚠
- p.Arg432Trp Multiple submitters Chitotriosidase deficiency ⚠
- p.Pro451Arg Multiple submitters Chitotriosidase deficiency ⚠
- c.314+1G>T Single submitter
- c.480+13G>A Single submitter Chitotriosidase deficiency
- c.916-9C>G Single submitter Chitotriosidase deficiency
- c.*124A>C Single submitter Chitotriosidase deficiency
- c.*143A>G Single submitter Chitotriosidase deficiency
- c.*238C>T Single submitter Chitotriosidase deficiency
- c.*280G>C Single submitter Chitotriosidase deficiency
- c.*403G>A Single submitter Chitotriosidase deficiency
- c.*450G>A Single submitter Chitotriosidase deficiency
- c.*57C>T Single submitter Chitotriosidase deficiency
- c.*599C>G Single submitter Chitotriosidase deficiency
- c.*729T>C Single submitter Chitotriosidase deficiency
- c.*743C>G Single submitter Chitotriosidase deficiency
- c.*754A>C Single submitter Chitotriosidase deficiency
- c.*85G>A Single submitter Chitotriosidase deficiency
- c.*99G>A Single submitter Chitotriosidase deficiency
- p.Ala111Thr Single submitter ⚠
- p.Ala359Gly Single submitter Chitotriosidase deficiency ⚠
- p.Ala366Asp Single submitter ⚠
- p.Ala39Pro Single submitter ⚠
- p.Ala442Glu Single submitter Chitotriosidase deficiency ⚠
- p.Ala8Thr Single submitter ⚠
- p.Ala95Val Single submitter
- p.Arg154Cys Single submitter Chitotriosidase deficiency ⚠
- p.Arg177Ser Single submitter ⚠
- p.Arg231Thr Single submitter ⚠
- p.Arg231Trp Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg280Thr Single submitter ⚠
- p.Arg327Trp Single submitter ⚠
- p.Arg374Leu Single submitter Chitotriosidase deficiency ⚠
- p.Arg3Gly Single submitter ⚠
- p.Arg40Cys Single submitter ⚠
- p.Asn225Lys Single submitter ⚠
- p.Asn329Lys Single submitter ⚠
- p.Asn371Tyr Single submitter ⚠
- p.Asp108Tyr Single submitter ⚠
- p.Asp244Val Single submitter ⚠
- p.Asp363Gly Single submitter ⚠
- p.Asp364Asn Single submitter Chitotriosidase deficiency
- p.Asp417His Single submitter ⚠
- p.Gln249His Single submitter ⚠
- p.Gln349Arg Single submitter ⚠
- p.Gln416Lys Single submitter ⚠
- p.Glu176Gly Single submitter ⚠
- p.Glu196Lys Single submitter ⚠
- p.Glu74Gly Single submitter ⚠
- p.Gly19Ser Single submitter Chitotriosidase deficiency ⚠
- p.Gly19Val Single submitter ⚠
- p.Gly415Glu Single submitter ⚠
- p.Gly453Ala Single submitter ⚠
- p.Gly453Asp Single submitter ⚠
- p.Gly60Ser Single submitter Chitotriosidase deficiency ⚠
- p.His215Arg Single submitter ⚠
- p.His410Arg Single submitter ⚠
- p.Leu260Pro Single submitter ⚠
- p.Leu362Ser Single submitter ⚠
- p.Leu427= Single submitter Chitotriosidase deficiency
- p.Leu427Pro Single submitter ⚠
- p.Leu66Gln Single submitter ⚠
- p.Leu76Val Single submitter ⚠
- p.Lys230Asn Single submitter ⚠
- p.Met356Thr Single submitter ⚠
- p.Phe419Cys Single submitter ⚠
- p.Phe437Leu Single submitter ⚠
- p.Pro256Ala Single submitter ⚠
- p.Pro429His Single submitter ⚠
- p.Pro48Leu Single submitter ⚠
- p.Ser144Asn Single submitter ⚠
- p.Ser288Phe Single submitter ⚠
- p.Ser339Arg Single submitter ⚠
- p.Ser436Thr Single submitter ⚠
- p.Thr172Ala Single submitter ⚠
- p.Thr418Met Single submitter ⚠
- p.Thr452= Single submitter Chitotriosidase deficiency
- p.Tyr141Asn Single submitter Chitotriosidase deficiency ⚠
- p.Tyr195His Single submitter ⚠
- p.Val221Ala Single submitter ⚠
- p.Val247Met Single submitter Chitotriosidase deficiency ⚠
- p.Leu385= No assertion criteria