CHUK — 266 ClinVar variants
All ClinVar germline CHUK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
4 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 38 Benign · 3 Benign/Likely benign · 120 Likely benign · 98 Uncertain significance
Full CHUK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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.
-
CHUK p.Arg365Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.Arg424Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.Arg563Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.Arg563His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.Gln226Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.His520Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.Lys512Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.Thr349Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.Tyr549Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.Val384Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.Ala472Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Arg299Thr Uncertain significance Single submitter
-
CHUK p.Asn149Ser
Uncertain significance
Single submitter
cocoon syndrome
-
CHUK p.Asn28His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Asn637Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Asp173Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Asp413Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Asp620Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Asp636Glu Uncertain significance Single submitter
- CHUK p.Cys113Gly Uncertain significance Single submitter
- CHUK p.Cys379Tyr Uncertain significance Single submitter
- CHUK p.Cys614Tyr Uncertain significance Single submitter
- CHUK p.Cys696Arg Uncertain significance Single submitter
- CHUK p.Gln277His Uncertain significance Single submitter
-
CHUK p.Gln616Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Glu36Lys Uncertain significance Single submitter
-
CHUK p.Glu543Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Glu711Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Glu726Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Gly10Ala Uncertain significance Single submitter
- CHUK p.Gly183Ala Uncertain significance Single submitter
-
CHUK p.His306Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.His432Tyr Uncertain significance Single submitter
-
CHUK p.His60Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.His690Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Ile132Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Ile159Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Ile420Val Uncertain significance Single submitter
-
CHUK p.Ile421Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Ile62Asn Uncertain significance Single submitter
-
CHUK p.Leu122Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Leu355Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Leu653Arg Uncertain significance Single submitter
-
CHUK p.Lys415Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Lys569Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Lys633Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Lys75Arg Uncertain significance Single submitter
-
CHUK p.Met17Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Met383Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Met557Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Met735Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Pro5Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Pro685Leu Uncertain significance Single submitter
- CHUK p.Ser126Asn Uncertain significance Single submitter
- CHUK p.Ser486Ile Uncertain significance Single submitter
- CHUK p.Thr209Ile Uncertain significance Single submitter
-
CHUK p.Thr294Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Thr499Met Uncertain significance Single submitter
- CHUK p.Val524Ile Uncertain significance Single submitter
- CHUK p.Val591Met Uncertain significance Single submitter
- CHUK p.Arg424Gly Uncertain significance No assertion criteria
Predictors split 34
The independent predictors disagree with each other — read with care.
- CHUK p.Glu353Asp Likely benign Multiple submitters
- CHUK p.Gly346Arg Uncertain significance Multiple submitters
-
CHUK p.Met17Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CHUK p.Pro330Leu Uncertain significance Multiple submitters
-
CHUK p.Ser559Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHUK p.Ala11Val
Conflicting
Single submitter
Inborn genetic diseases
- CHUK p.Ala450Ser Uncertain significance Single submitter
-
CHUK p.Arg18Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Arg343Cys Uncertain significance Single submitter
- CHUK p.Arg343His Likely benign Single submitter
-
CHUK p.Arg365Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Arg424His
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Arg47Cys Uncertain significance Single submitter
-
CHUK p.Arg493Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Asn72Ser Uncertain significance Single submitter
-
CHUK p.Asp78Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Gln597His
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Glu342Gly Uncertain significance Single submitter
-
CHUK p.Glu561Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Gly346Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Ile140Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Ile307Val Likely benign Single submitter
-
CHUK p.Ile502Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Leu303Val Uncertain significance Single submitter
- CHUK p.Leu308Ser Uncertain significance Single submitter
-
CHUK p.Lys322Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Lys645Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHUK p.Phe243Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Phe482Ile Uncertain significance Single submitter
- CHUK p.Ser126Cys Likely benign Single submitter
-
CHUK p.Ser369Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CHUK p.Ser669Cys Uncertain significance Single submitter
- CHUK p.Thr744Ile Uncertain significance Single submitter
- CHUK p.Val407Ile Uncertain significance Single submitter
All CHUK variants
Pathogenic 4
- p.Arg143Ter Single submitter
- p.Gln417Ter Single submitter
- c.934-2A>G No assertion criteria Bartsocas-Papas syndrome 2
- p.Gln422Ter No assertion criteria cocoon syndrome
Likely pathogenic 2
- c.316-2A>G Single submitter
- c.475-2A>C Single submitter
Conflicting classifications of pathogenicity 1
- p.Ala11Val Single submitter Inborn genetic diseases ⚠
Benign 38
- c.1129-123G>C Multiple submitters
- c.1231+163G>A Multiple submitters
- c.1730-69G>A Multiple submitters
- c.1827-34G>A Multiple submitters
- c.1827-37C>A Multiple submitters
- c.1974+36T>G Multiple submitters
- c.1975-137T>C Multiple submitters
- c.1975-87G>C Multiple submitters
- c.1975-93G>A Multiple submitters
- c.2209-47A>C Multiple submitters
- c.316-121T>C Multiple submitters
- c.386-26T>C Multiple submitters
- c.475-137A>G Multiple submitters
- c.475-80C>T Multiple submitters
- c.689+79T>G Multiple submitters
- c.797+104C>T Multiple submitters
- c.933+11dup Multiple submitters
- p.Gly501= Multiple submitters
- p.Ser486= Multiple submitters
- c.105+12C>T Single submitter
- c.1129-304C>T Single submitter
- c.1129-321C>T Single submitter
- c.1231+220del Single submitter
- c.1356-16dup Single submitter
- c.1508-306A>G Single submitter
- c.1679+286C>T Single submitter
- c.201-13dup Single submitter
- c.2209-221dup Single submitter
- c.386-139_386-138insT Single submitter
- c.386-274T>G Single submitter
- c.386-289G>A Single submitter
- c.474+209del Single submitter
- c.934-104G>T Single submitter
- c.934-265C>T Single submitter
- c.934-306A>T Single submitter
- p.Thr23= Single submitter
- p.Thr499= Single submitter
- p.Tyr204= Single submitter
Benign/Likely benign 3
- p.Gly447= Multiple submitters
- p.Val155Ala Multiple submitters
- p.Val268Ile Multiple submitters
Likely benign 120
- c.1570-14T>G Multiple submitters
- c.1679+10C>T Multiple submitters
- c.797+15G>A Multiple submitters
- p.Glu353Asp Multiple submitters ⚠
- c.105+15G>C Single submitter
- c.105+16A>T Single submitter
- c.106-10A>C Single submitter
- c.106-7T>G Single submitter
- c.1128+16A>G Single submitter
- c.1128+18A>G Single submitter
- c.1231+10G>T Single submitter
- c.1231+12C>A Single submitter
- c.1231+18A>G Single submitter
- c.1232-10T>C Single submitter
- c.1232-20T>C Single submitter
- c.1355+15T>C Single submitter
- c.1356-9G>A Single submitter
- c.1508-5T>C Single submitter
- c.1569+14C>T Single submitter
- c.1569+15G>A Single submitter
- c.1569+18A>G Single submitter
- c.1679+12C>T Single submitter
- c.1679+18T>G Single submitter
- c.1679+20G>A Single submitter
- c.1680-18G>A Single submitter
- c.1680-19C>T Single submitter
- c.1729+16C>T Single submitter
- c.1826+11T>G Single submitter
- c.1826+8A>G Single submitter
- c.1827-14T>C Single submitter
- c.1827-5T>C Single submitter
- c.1974+8A>G Single submitter
- c.200+9A>G Single submitter
- c.201-5A>G Single submitter
- c.201-8C>T Single submitter
- c.2108+14G>C Single submitter
- c.2108+18C>T Single submitter
- c.2109-14C>T Single submitter
- c.2109-17G>T Single submitter
- c.2209-15C>T Single submitter
- c.2209-8G>C Single submitter
- c.315+17G>C Single submitter
- c.385+10A>C Single submitter
- c.385+14T>G Single submitter
- c.386-18A>G Single submitter
- c.474+13T>C Single submitter
- c.475-10del Single submitter
- c.564+12T>C Single submitter
- c.564+13T>C Single submitter
- c.565-14T>C Single submitter
- c.689+9T>C Single submitter
- c.690-15C>A Single submitter
- c.797+11T>G Single submitter
- c.798-10T>C Single submitter
- c.798-13G>A Single submitter
- c.798-14T>C Single submitter
- c.798-16T>G Single submitter
- c.798-19T>C Single submitter
- c.798-4C>G Single submitter
- c.933+8T>G Single submitter
- c.934-14T>C Single submitter
- c.934-6A>C Single submitter
- c.934-7T>C Single submitter
- p.Ala11= Single submitter
- p.Ala189= Single submitter
- p.Ala510= Single submitter
- p.Arg20= Single submitter
- p.Arg253= Single submitter
- p.Arg343His Single submitter ⚠
- p.Arg646= Single submitter
- p.Asn28= Single submitter
- p.Asn281= Single submitter
- p.Asn467= Single submitter
- p.Asn733Ser Single submitter
- p.Asp127= Single submitter
- p.Asp292= Single submitter
- p.Asp388= Single submitter
- p.Cys113= Single submitter
- p.Gln475= Single submitter
- p.Glu194= Single submitter
- p.Glu481= Single submitter
- p.Gly10= Single submitter
- p.Gly12= Single submitter
- p.Gly606= Single submitter
- p.His573= Single submitter
- p.His592= Single submitter
- p.His725= Single submitter
- p.His88= Single submitter
- p.Ile150= Single submitter
- p.Ile160= Single submitter
- p.Ile307= Single submitter
- p.Ile307Val Single submitter ⚠
- p.Ile470= Single submitter
- p.Ile632= Single submitter
- p.Leu106= Single submitter Inborn genetic diseases
- p.Leu295= Single submitter
- p.Leu31= Single submitter
- p.Leu423= Single submitter
- p.Leu611= Single submitter
- p.Leu694= Single submitter
- p.Leu7= Single submitter
- p.Leu714= Single submitter
- p.Leu93= Single submitter
- p.Lys438= Single submitter
- p.Lys44= Single submitter
- p.Phe181= Single submitter
- p.Phe212= Single submitter
- p.Pro14= Single submitter
- p.Pro239= Single submitter
- p.Pro259= Single submitter
- p.Pro685= Single submitter
- p.Pro9= Single submitter
- p.Ser126Cys Single submitter ⚠
- p.Ser255= Single submitter
- p.Ser351= Single submitter
- p.Ser390= Single submitter
- p.Ser495= Single submitter
- p.Ser504= Single submitter
- p.Val434= Single submitter
- p.Val667= Single submitter
Uncertain significance 98
- p.Arg365Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg424Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg563Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg563His Multiple submitters Inborn genetic diseases ⚠
- p.Gln226Pro Multiple submitters Inborn genetic diseases ⚠
- p.Gly346Arg Multiple submitters ⚠
- p.His520Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys512Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met17Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro330Leu Multiple submitters ⚠
- p.Ser559Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr349Ser Multiple submitters Inborn genetic diseases ⚠
- p.Tyr549Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val384Ile Multiple submitters Inborn genetic diseases ⚠
- c.1231+3A>G Single submitter
- c.1569+6A>C Single submitter
- c.201-20A>G Single submitter
- c.2209-11C>G Single submitter
- c.385+4C>A Single submitter
- c.385+4C>T Single submitter
- c.933+9_933+10insGAAGGTTAGTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTA Single submitter
- p.Ala450Ser Single submitter ⚠
- p.Ala472Thr Single submitter Inborn genetic diseases ⚠
- p.Arg18Gln Single submitter Inborn genetic diseases ⚠
- p.Arg299Thr Single submitter ⚠
- p.Arg343Cys Single submitter ⚠
- p.Arg365Trp Single submitter Inborn genetic diseases ⚠
- p.Arg424His Single submitter Inborn genetic diseases ⚠
- p.Arg47Cys Single submitter ⚠
- p.Arg493Ser Single submitter Inborn genetic diseases ⚠
- p.Asn149Ser Single submitter cocoon syndrome ⚠
- p.Asn28His Single submitter Inborn genetic diseases ⚠
- p.Asn637Ser Single submitter Inborn genetic diseases ⚠
- p.Asn72Ser Single submitter ⚠
- p.Asp173Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp413Asn Single submitter Inborn genetic diseases ⚠
- p.Asp620Asn Single submitter Inborn genetic diseases ⚠
- p.Asp636Glu Single submitter ⚠
- p.Asp78Gly Single submitter Inborn genetic diseases ⚠
- p.Cys113Gly Single submitter ⚠
- p.Cys379Tyr Single submitter ⚠
- p.Cys614Tyr Single submitter ⚠
- p.Cys696Arg Single submitter ⚠
- p.Gln277His Single submitter ⚠
- p.Gln597His Single submitter Inborn genetic diseases ⚠
- p.Gln616Lys Single submitter Inborn genetic diseases ⚠
- p.Glu342Gly Single submitter ⚠
- p.Glu36Lys Single submitter ⚠
- p.Glu543Asp Single submitter Inborn genetic diseases ⚠
- p.Glu561Gly Single submitter Inborn genetic diseases ⚠
- p.Glu711Asp Single submitter Inborn genetic diseases ⚠
- p.Glu726Asp Single submitter Inborn genetic diseases ⚠
- p.Gly10Ala Single submitter ⚠
- p.Gly183Ala Single submitter ⚠
- p.Gly346Ala Single submitter Inborn genetic diseases ⚠
- p.His306Gln Single submitter Inborn genetic diseases ⚠
- p.His432Tyr Single submitter ⚠
- p.His60Gln Single submitter Inborn genetic diseases ⚠
- p.His690Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile132Val Single submitter Inborn genetic diseases ⚠
- p.Ile140Val Single submitter Inborn genetic diseases ⚠
- p.Ile159Thr Single submitter Inborn genetic diseases ⚠
- p.Ile420Val Single submitter ⚠
- p.Ile421Thr Single submitter Inborn genetic diseases ⚠
- p.Ile502Met Single submitter Inborn genetic diseases ⚠
- p.Ile62Asn Single submitter ⚠
- p.Leu122Phe Single submitter Inborn genetic diseases ⚠
- p.Leu303Val Single submitter ⚠
- p.Leu308Ser Single submitter ⚠
- p.Leu355Ile Single submitter Inborn genetic diseases ⚠
- p.Leu653Arg Single submitter ⚠
- p.Lys322Met Single submitter Inborn genetic diseases ⚠
- p.Lys415Arg Single submitter Inborn genetic diseases ⚠
- p.Lys569Arg Single submitter Inborn genetic diseases ⚠
- p.Lys633Glu Single submitter Inborn genetic diseases ⚠
- p.Lys645Gln Single submitter Inborn genetic diseases ⚠
- p.Lys75Arg Single submitter ⚠
- p.Met17Leu Single submitter Inborn genetic diseases ⚠
- p.Met383Thr Single submitter Inborn genetic diseases ⚠
- p.Met557Thr Single submitter Inborn genetic diseases ⚠
- p.Met735Ile Single submitter Inborn genetic diseases ⚠
- p.Phe243Val Single submitter Inborn genetic diseases ⚠
- p.Phe482Ile Single submitter ⚠
- p.Pro5Leu Single submitter Inborn genetic diseases ⚠
- p.Pro685Leu Single submitter ⚠
- p.Ser126Asn Single submitter ⚠
- p.Ser369Phe Single submitter Inborn genetic diseases ⚠
- p.Ser486Ile Single submitter ⚠
- p.Ser669Cys Single submitter ⚠
- p.Thr209Ile Single submitter ⚠
- p.Thr294Ile Single submitter Inborn genetic diseases ⚠
- p.Thr499Met Single submitter ⚠
- p.Thr744Ile Single submitter ⚠
- p.Val376= Single submitter
- p.Val407Ile Single submitter ⚠
- p.Val524Ile Single submitter ⚠
- p.Val591Met Single submitter ⚠
- p.Arg424Gly No assertion criteria ⚠