CTPS1 — 330 ClinVar variants
All ClinVar germline CTPS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
1 Pathogenic · 3 Conflicting · 19 Benign · 4 Benign/Likely benign · 167 Likely benign · 136 Uncertain significance
Full CTPS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CTPS1 p.Arg102Trp
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Arg294His
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Cys491Gly
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.His590Arg
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Lys460Arg
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Lys466Arg
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Pro158Ser
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Tyr468Cys
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Val487Ala
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ala129Val
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ala340Val
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Arg102Gln
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Arg294Cys
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Arg376Pro
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Arg389Pro
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Arg479Leu
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Arg550Gln
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Asp212Glu
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Asp271His Uncertain significance Single submitter
-
CTPS1 p.Asp46Gly
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Asp569Glu
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Cys491Arg Uncertain significance Single submitter
- CTPS1 p.Gln495Glu Uncertain significance Single submitter
- CTPS1 p.Glu343Ala Uncertain significance Single submitter
-
CTPS1 p.Glu423Gly
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Glu582Lys
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Gly152Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Gly190Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Gly446Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Gly64Asp
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.His33Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.His478Tyr
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ile145Thr
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ile274Val
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ile39Val
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Leu78Arg Uncertain significance Single submitter
-
CTPS1 p.Leu88Val
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Lys195Thr
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Lys535Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Met464Ile
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Met464Leu
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Phe541Ser
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Pro196Ser
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ser22Asn
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Ser29Ala Uncertain significance Single submitter
-
CTPS1 p.Ser347Leu
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ser537Phe
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ser562Pro
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Ser574Thr Uncertain significance Single submitter
- CTPS1 p.Ser578Pro Uncertain significance Single submitter
-
CTPS1 p.Thr566Ile
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Trp124Gly
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Tyr251Cys
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Tyr336Phe
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Tyr74Cys
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Tyr96Cys
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Val111Ala
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Val151Met
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Val352Met
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Val434Ile
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Val487Leu
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
Predictors split 52
The independent predictors disagree with each other — read with care.
-
CTPS1 p.Ala471Thr
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Arg376Gln
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Asn412Ser
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Glu356Lys
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ile121Val
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ile337Val
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Lys360Arg Uncertain significance Multiple submitters
-
CTPS1 p.Pro426Ser
Uncertain significance
Multiple submitters
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Ala357Gly Uncertain significance Single submitter
- CTPS1 p.Arg268Gln Uncertain significance Single submitter
-
CTPS1 p.Arg353Cys
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Arg81Cys
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Arg81His
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Asn420Ser Uncertain significance Single submitter
-
CTPS1 p.Asp264Tyr
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Asp418Gly
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Asp516Gly
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Gln443Glu Uncertain significance Single submitter
-
CTPS1 p.Gln443His
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Gln443Lys
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Glu203Gln
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Glu297Lys
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Glu515Lys Uncertain significance Single submitter
-
CTPS1 p.Gly501Ala
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.His330Asn
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.His33Leu
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.His553Leu
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ile274Thr
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ile98Val
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Leu332Met Uncertain significance Single submitter
- CTPS1 p.Lys28Arg Uncertain significance Single submitter
- CTPS1 p.Lys360Gln Uncertain significance Single submitter
-
CTPS1 p.Lys466Asn
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Lys490Thr
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Met232Val Uncertain significance Single submitter
- CTPS1 p.Phe175Leu Uncertain significance Single submitter
- CTPS1 p.Phe541Cys Uncertain significance Single submitter
-
CTPS1 p.Pro273Leu
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Pro426Ala
Conflicting
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Pro576Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ser300Cys
Conflicting
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Ser363Gly
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Thr308Met Uncertain significance Single submitter
-
CTPS1 p.Thr378Ala
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Thr427Met
Conflicting
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Tyr354His
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Tyr473His
Likely benign
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Val170Gly
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Val180Ile Uncertain significance Single submitter
-
CTPS1 p.Val413Met
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
-
CTPS1 p.Val432Met
Uncertain significance
Single submitter
combined immunodeficiency due to CTPS1 deficiency
- CTPS1 p.Val433Ile Uncertain significance Single submitter
All CTPS1 variants
Pathogenic 1
- c.1692-1G>C Multiple submitters combined immunodeficiency due to CTPS1 deficiency
Conflicting classifications of pathogenicity 3
- p.Pro426Ala Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ser300Cys Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Thr427Met Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
Benign 19
- c.1006-19_1006-18del Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- c.1094+14G>A Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- c.1449+14C>G Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- c.1547-32A>G Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- c.556-16T>G Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Gln167= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Pro539= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Thr308= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- c.1006-151T>A Single submitter
- c.1252+818A>C Single submitter
- c.1393+66A>G Single submitter
- c.1394-6del Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1691+7G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.555+43G>A Single submitter
- c.721-76G>C Single submitter
- c.721-9del Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.873-80T>C Single submitter
- c.-14+16G>T Single submitter
- p.Leu530= Single submitter combined immunodeficiency due to CTPS1 deficiency
Benign/Likely benign 4
- c.1190-10del Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Gly190= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Gly397= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Ser347= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
Likely benign 167
- c.1296+11T>G Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- c.337+16C>T Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- c.556-9G>T Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Glu423= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Gly496= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Pro254= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Ser225= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Ser578= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Thr427= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- p.Tyr74= Multiple submitters combined immunodeficiency due to CTPS1 deficiency
- c.1006-17G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1006-19C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1094+10G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1094+16T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1094+9A>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1095-6G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1189+14C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1190-10C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1190-15C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1190-16T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1190-17T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1190-18T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1190-6T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1252+11A>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1252+18C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1252+19A>G Single submitter
- c.1252+7G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1296+12G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1296+13T>C Single submitter
- c.1296+15T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1297-7T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1297-9C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1393+12C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1393+16C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1393+17G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1394-14G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1394-14G>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1394-15C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1449+11C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1449+17G>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1450-11T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1450-14T>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1450-15T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1450-18T>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1546+10C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1546+11G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1547-15G>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1547-8T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.166+10G>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.166+15T>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.166+7dup Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.167-13C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.167-15C>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.167-5T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1692-20A>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.337+10G>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.337+14T>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.338-16G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.438+14C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.438+20A>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.439-15A>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.439-17C>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.439-6T>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.555+11C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.555+12A>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.555+15G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.555+20_555+31del Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.556-14_556-10dup Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.556-16_556-15insG Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.556-7G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.640-12C>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.640-15G>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.640-15G>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.640-5G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.720+10A>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.720+17A>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.721-11T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.721-20A>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.721-6A>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.872+12A>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.873-13G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.873-14C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ala129= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ala20= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ala315= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ala340= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ala384= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Arg164= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Arg376= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Arg550= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Arg76= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Asn99= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Asp134= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Asp312= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Asp470= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Asp565= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Cys218= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Cys491= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gln198= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gln260= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gln348= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gln524= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gln556= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Glu123= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Glu203= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Glu237= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Glu494= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Glu507= Single submitter
- p.Glu54= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Glu66= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gly104= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gly137= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gly152= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gly305= Single submitter
- p.Gly366= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gly442= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gly445= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gly506= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gly558= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.His179= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.His245= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.His33= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.His355= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.His478= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ile160= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ile4= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Leu182= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Leu222= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Leu27= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Leu321= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Leu396= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Leu456= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Leu544= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Leu561= Single submitter
- p.Lys103= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Lys286= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Lys466= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Phe175= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Phe541= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Phe585= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Pro196= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Pro211= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Pro221= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Pro351= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Pro41= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Pro431= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Pro437= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Pro586= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ser187= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ser231= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ser300= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ser313= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ser575= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Thr110= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Thr150= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Thr581= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Thr89= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Tyr292= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Tyr473His Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Tyr567= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Val114= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Val133= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Val151= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Val244= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Val434= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Val487= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Val500= Single submitter combined immunodeficiency due to CTPS1 deficiency
Uncertain significance 136
- p.Ala471Thr Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg102Trp Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg294His Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg376Gln Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Asn412Ser Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Cys491Gly Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Glu356Lys Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.His590Arg Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ile121Val Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ile337Val Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Lys360Arg Multiple submitters ⚠
- p.Lys460Arg Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Lys466Arg Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Pro158Ser Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Pro426Ser Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Tyr468Cys Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Val487Ala Multiple submitters combined immunodeficiency due to CTPS1 deficiency ⚠
- c.1005+6G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1094+3G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1094+5G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1095-5T>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1190-18T>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1252+6C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1296+3G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1449+3G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1450-4A>G Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1691+6C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.1692-3C>T Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.438+1G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.439-3T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.555_555+997del Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.555+5G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.639+5G>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.720+1G>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.872+4T>A Single submitter combined immunodeficiency due to CTPS1 deficiency
- c.873-3T>C Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ala129Val Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ala340Val Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ala357Gly Single submitter ⚠
- p.Arg102Gln Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg268Gln Single submitter ⚠
- p.Arg294Cys Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg353Cys Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg376Pro Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg389Pro Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg479Leu Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg550Gln Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg564= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Arg81Cys Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Arg81His Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Asn412= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Asn420Ser Single submitter ⚠
- p.Asp212Glu Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Asp264Tyr Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Asp271His Single submitter ⚠
- p.Asp418Gly Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Asp425Val Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Asp46Gly Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Asp516Gly Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Asp569Glu Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Cys491Arg Single submitter ⚠
- p.Gln112= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gln185= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Gln443Glu Single submitter ⚠
- p.Gln443His Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Gln443Lys Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Gln495Glu Single submitter ⚠
- p.Glu203Gln Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Glu297Lys Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Glu343Ala Single submitter ⚠
- p.Glu423Gly Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Glu515Lys Single submitter ⚠
- p.Glu582Lys Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Gly152Arg Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Gly190Arg Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Gly446Arg Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Gly501Ala Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Gly64Asp Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.His330Asn Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.His33Arg Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.His33Leu Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.His478Tyr Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.His553Leu Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ile145Thr Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ile274Thr Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ile274Val Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ile39Val Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ile98Val Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Leu332Met Single submitter ⚠
- p.Leu78Arg Single submitter ⚠
- p.Leu88Val Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Lys195Thr Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Lys28Arg Single submitter ⚠
- p.Lys360Gln Single submitter ⚠
- p.Lys460= Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Lys466Asn Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Lys490Thr Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Lys535Arg Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Met1Ile Single submitter
- p.Met232Val Single submitter ⚠
- p.Met464Ile Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Met464Leu Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Phe175Leu Single submitter ⚠
- p.Phe541Cys Single submitter ⚠
- p.Phe541Ser Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Pro196Ser Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Pro273Leu Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Pro576Arg Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Pro586fs Single submitter combined immunodeficiency due to CTPS1 deficiency
- p.Ser22Asn Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ser29Ala Single submitter ⚠
- p.Ser347Leu Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ser363Gly Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ser537Phe Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ser562Pro Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Ser574Thr Single submitter ⚠
- p.Ser578Pro Single submitter ⚠
- p.Thr308Met Single submitter ⚠
- p.Thr378Ala Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Thr566Ile Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Trp124Gly Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Tyr251Cys Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Tyr336Phe Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Tyr354His Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Tyr74Cys Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Tyr96Cys Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Val111Ala Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Val151Met Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Val170Gly Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Val180Ile Single submitter ⚠
- p.Val352Met Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Val413Met Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Val432Met Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Val433Ile Single submitter ⚠
- p.Val434Ile Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠
- p.Val487Leu Single submitter combined immunodeficiency due to CTPS1 deficiency ⚠