CTCF — 370 ClinVar variants
All ClinVar germline CTCF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 181 flagged for review →
39 Pathogenic · 8 Pathogenic/Likely pathogenic · 45 Likely pathogenic · 15 Conflicting · 21 Benign · 7 Benign/Likely benign · 64 Likely benign · 171 Uncertain significance
Full CTCF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 181
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CTCF p.Ala697Thr
Conflicting
Single submitter
CTCF-related disorder
-
CTCF p.Arg377His
Conflicting
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Arg377Ser Conflicting Single submitter
-
CTCF p.Asn713Lys
Conflicting
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Cys525Gly
Conflicting
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Glu348Lys Conflicting Single submitter
-
CTCF p.Glu376Gly
Conflicting
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.His294Pro
Conflicting
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Pro712Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CTCF p.Ser360Ile
Conflicting
Single submitter
CTCF-related neurodevelopmental disorder
Predictors lean, ClinVar uncertain 102
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CTCF p.Arg213His
Uncertain significance
Multiple submitters
CTCF-related neurodevelopmental disorder
-
CTCF p.Arg278Leu
Uncertain significance
Multiple submitters
CTCF-related neurodevelopmental disorder
- CTCF p.Arg341His Uncertain significance Multiple submitters
-
CTCF p.Arg371Cys
Uncertain significance
Multiple submitters
CTCF-related neurodevelopmental disorder
-
CTCF p.Cys299Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTCF p.Ile511Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTCF p.Ala148Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Ala148Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Ala242Val Uncertain significance Single submitter
-
CTCF p.Ala359Pro
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Ala554Val Uncertain significance Single submitter
-
CTCF p.Ala5Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Ala629Val
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Ala648Thr Uncertain significance Single submitter
-
CTCF p.Ala697Ser
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Ala83Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Ala83Ser Uncertain significance Single submitter
-
CTCF p.Arg213Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Arg22Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Arg301Gly Uncertain significance Single submitter
-
CTCF p.Arg320Cys
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Arg341Cys Uncertain significance Single submitter
- CTCF p.Arg457Gly Uncertain significance Single submitter
-
CTCF p.Arg470His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Arg566His
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Arg654Gln Uncertain significance Single submitter
-
CTCF p.Asn43Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Asn549Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Asn55Ser Uncertain significance Single submitter
- CTCF p.Asn587Asp Uncertain significance Single submitter
- CTCF p.Asp196Asn Uncertain significance Single submitter
- CTCF p.Asp220Gly Uncertain significance Single submitter
-
CTCF p.Asp36Gly
Uncertain significance
Single submitter
syndromic X-linked intellectual disability Shashi type
- CTCF p.Asp390Tyr Uncertain significance Single submitter
- CTCF p.Asp529Val Uncertain significance Single submitter
-
CTCF p.Asp710Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Cys268Arg
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Cys271Trp Uncertain significance Single submitter
-
CTCF p.Cys353Arg
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Cys353Gly
Uncertain significance
Single submitter
intellectual disability
-
CTCF p.Cys356Gly
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Cys412Tyr
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Cys472Arg
Uncertain significance
Single submitter
CTCF-related disorder
-
CTCF p.Gln192Pro
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Gln44Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Gln52Pro Uncertain significance Single submitter
-
CTCF p.Glu105Lys
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Glu35Gly Uncertain significance Single submitter
- CTCF p.Glu478Lys Uncertain significance Single submitter
- CTCF p.Glu719Val Uncertain significance Single submitter
- CTCF p.Gly146Asp Uncertain significance Single submitter
-
CTCF p.Gly318Arg
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Gly31Ala Uncertain significance Single submitter
- CTCF p.Gly47Glu Uncertain significance Single submitter
- CTCF p.Gly519Arg Uncertain significance Single submitter
-
CTCF p.Gly582Val
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.His297Arg Uncertain significance Single submitter
- CTCF p.His373Tyr Uncertain significance Single submitter
-
CTCF p.His430Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.His477Pro Uncertain significance Single submitter
- CTCF p.His489Asn Uncertain significance Single submitter
-
CTCF p.His541Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.His541Leu
Uncertain significance
Single submitter
CTCF-related syndromic intellectual disability
-
CTCF p.Ile110Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Ile632Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Leu113Ile Uncertain significance Single submitter
- CTCF p.Leu40Val Uncertain significance Single submitter
- CTCF p.Lys144Thr Uncertain significance Single submitter
-
CTCF p.Lys514Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Lys606Glu Uncertain significance Single submitter
- CTCF p.Met103Val Uncertain significance Single submitter
- CTCF p.Met355Val Uncertain significance Single submitter
-
CTCF p.Phe266Leu
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Phe416Leu Uncertain significance Single submitter
-
CTCF p.Pro189Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Pro195Ala Uncertain significance Single submitter
- CTCF p.Pro321Leu Uncertain significance Single submitter
-
CTCF p.Pro41Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Pro440Ser Uncertain significance Single submitter
-
CTCF p.Ser130Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Ser13Ala Uncertain significance Single submitter
-
CTCF p.Ser210Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Ser360Arg
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Ser372Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Ser388Asn Uncertain significance Single submitter
- CTCF p.Ser57Asn Uncertain significance Single submitter
-
CTCF p.Ser604Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Thr177Ala
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Thr204Ser Uncertain significance Single submitter
-
CTCF p.Thr215Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Thr659Ile
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Tyr407His Uncertain significance Single submitter
- CTCF p.Tyr480Cys Uncertain significance Single submitter
-
CTCF p.Val131Ile
Uncertain significance
Single submitter
cleft palate
- CTCF p.Val225Ile Uncertain significance Single submitter
- CTCF p.Val306Ile Uncertain significance Single submitter
-
CTCF p.Val338Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Val50Met Uncertain significance Single submitter
-
CTCF p.Ala669Thr
Uncertain significance
No assertion criteria
CTCF-related disorder
-
CTCF p.Gly375Glu
Uncertain significance
No assertion criteria
CTCF-related disorder
-
CTCF p.Val10Ala
Uncertain significance
No assertion criteria
CTCF-related disorder
-
CTCF p.Val262Ile
Uncertain significance
No assertion criteria
CTCF-related neurodevelopmental disorder
Predictors split 68
The independent predictors disagree with each other — read with care.
-
CTCF p.Arg277Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTCF p.Gly261Val
Uncertain significance
Multiple submitters
CTCF-related neurodevelopmental disorder
-
CTCF p.Gly657Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTCF p.Pro643Ser
Benign/Likely benign
Multiple submitters
CTCF-related neurodevelopmental disorder
-
CTCF p.Ala359Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Ala503Thr Uncertain significance Single submitter
- CTCF p.Ala524Thr Uncertain significance Single submitter
-
CTCF p.Arg320Gly
Likely pathogenic
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Arg339Gln
Conflicting
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Arg457Gln Uncertain significance Single submitter
- CTCF p.Asn172Lys Uncertain significance Single submitter
- CTCF p.Asn491Lys Uncertain significance Single submitter
- CTCF p.Asn491Thr Uncertain significance Single submitter
- CTCF p.Asp188His Uncertain significance Single submitter
- CTCF p.Asp501Asn Uncertain significance Single submitter
-
CTCF p.Asp529Asn
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Asp547Asn Uncertain significance Single submitter
-
CTCF p.Asp675Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Asp67Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Gln117His Uncertain significance Single submitter
- CTCF p.Gln186Arg Uncertain significance Single submitter
- CTCF p.Gln44Arg Likely benign Single submitter
-
CTCF p.Gln459Arg
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Gln459Glu Uncertain significance Single submitter
- CTCF p.Gln664His Uncertain significance Single submitter
-
CTCF p.Gln666His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Gln676Arg
Conflicting
Single submitter
Inborn genetic diseases
- CTCF p.Gln72His Uncertain significance Single submitter
- CTCF p.Glu179Lys Uncertain significance Single submitter
-
CTCF p.Glu336Gln
Likely pathogenic
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Glu586Ala Uncertain significance Single submitter
- CTCF p.Glu590Gln Likely benign Single submitter
-
CTCF p.Glu698Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Gly597Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Gly679Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Gly714Arg Uncertain significance Single submitter
-
CTCF p.His347Tyr
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Ile411Phe Uncertain significance Single submitter
-
CTCF p.Ile670Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Leu147Phe Uncertain significance Single submitter
- CTCF p.Leu308Phe Uncertain significance Single submitter
-
CTCF p.Leu40Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Leu70Phe Uncertain significance Single submitter
-
CTCF p.Lys344Glu
Likely pathogenic
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Lys405Arg Uncertain significance Single submitter
- CTCF p.Lys423Asn Uncertain significance Single submitter
-
CTCF p.Lys490Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Lys601Arg Uncertain significance Single submitter
-
CTCF p.Met355Thr
Conflicting
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Phe351Tyr Uncertain significance Single submitter
- CTCF p.Pro185His Uncertain significance Single submitter
-
CTCF p.Pro325Arg
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Pro638Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Pro646Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTCF p.Pro68Arg
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Pro692Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Pro712Arg Uncertain significance Single submitter
- CTCF p.Ser609Phe Uncertain significance Single submitter
-
CTCF p.Ser609Tyr
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
- CTCF p.Ser610Phe Uncertain significance Single submitter
-
CTCF p.Thr591Met
Likely benign
Single submitter
Inborn genetic diseases
-
CTCF p.Tyr226Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CTCF p.Val175Met Uncertain significance Single submitter
- CTCF p.Val475Met Uncertain significance Single submitter
- CTCF p.Val54Phe Uncertain significance Single submitter
- CTCF p.Val551Leu Uncertain significance Single submitter
-
CTCF p.Val630Leu
Uncertain significance
Single submitter
CTCF-related neurodevelopmental disorder
-
CTCF p.Glu79Gly
Uncertain significance
No assertion criteria
CTCF-related neurodevelopmental disorder
All CTCF variants
Pathogenic 39
- c.782-2A>T Multiple submitters CTCF-related neurodevelopmental disorder
- p.Arg368Cys Multiple submitters Inborn genetic diseases
- p.Arg368His Multiple submitters CTCF-related neurodevelopmental disorder
- p.Arg448Gln Multiple submitters CTCF-related neurodevelopmental disorder
- p.Lys206fs Multiple submitters Inborn genetic diseases
- p.Lys260fs Multiple submitters CTCF-related neurodevelopmental disorder
- p.Thr204fs Multiple submitters desmoplastic/nodular medulloblastoma
- p.Tyr226Cys Multiple submitters CTCF-related neurodevelopmental disorder
- p.Val556_Cys557insTer Multiple submitters
- c.1999+1G>A Single submitter
- c.2000-1G>A Single submitter
- p.Arg339Trp Single submitter
- p.Arg377Cys Single submitter
- p.Arg396fs Single submitter CTCF-related neurodevelopmental disorder
- p.Arg457Ter Single submitter
- p.Arg596fs Single submitter
- p.Cys268_Glu269delinsTer Single submitter CTCF-related neurodevelopmental disorder
- p.Cys327Arg Single submitter
- p.Gln106fs Single submitter
- p.Gln486Ter Single submitter Inborn genetic diseases
- p.Gln664Ter Single submitter CTCF-related neurodevelopmental disorder
- p.Glu230fs Single submitter CTCF-related neurodevelopmental disorder
- p.Gly111fs Single submitter CTCF-related neurodevelopmental disorder
- p.His345Arg Single submitter
- p.His373Asp Single submitter CTCF-related neurodevelopmental disorder
- p.His527fs Single submitter
- p.His541fs Single submitter CTCF-related neurodevelopmental disorder
- p.Leu98fs Single submitter CTCF-related neurodevelopmental disorder
- p.Lys258fs Single submitter CTCF-related neurodevelopmental disorder
- p.Lys467_Lys468insTer Single submitter Inborn genetic diseases
- p.Lys496Ter Single submitter
- p.Lys605fs Single submitter
- p.Pro640fs Single submitter
- p.Tyr523Ter Single submitter Inborn genetic diseases
- p.Val126fs Single submitter CTCF-related neurodevelopmental disorder
- p.Val50fs Single submitter CTCF-related neurodevelopmental disorder
- p.Glu408fs No assertion criteria CTCF-related neurodevelopmental disorder
- p.Lys211fs No assertion criteria CTCF-related neurodevelopmental disorder
- p.Tyr545fs No assertion criteria CTCF-related neurodevelopmental disorder
Pathogenic/Likely pathogenic 8
- c.782-1G>A Multiple submitters CTCF-related neurodevelopmental disorder
- c.782-1G>C Multiple submitters CTCF-related neurodevelopmental disorder
- c.782-2A>G Multiple submitters CTCF-related neurodevelopmental disorder
- p.Arg342Cys Multiple submitters Autosomal dominant CTCF-related disorders
- p.Arg342His Multiple submitters CTCF-related neurodevelopmental disorder
- p.Arg567Trp Multiple submitters CTCF-related syndromic intellectual disability
- p.Gly318fs Multiple submitters
- p.Pro378Leu Multiple submitters Inborn genetic diseases
Likely pathogenic 45
- p.Arg283His Multiple submitters CTCF-related neurodevelopmental disorder
- p.Arg320His Multiple submitters CTCF-related neurodevelopmental disorder
- c.1837+1G>A Single submitter CTCF-related neurodevelopmental disorder
- c.782-1G>T Single submitter CTCF-related neurodevelopmental disorder
- c.952+1G>T Single submitter CTCF-related neurodevelopmental disorder
- p.Ala148fs Single submitter CTCF-related neurodevelopmental disorder
- p.Arg283Cys Single submitter
- p.Arg320Gly Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Arg342Gly Single submitter
- p.Arg368Ser Single submitter
- p.Arg448Ter Single submitter CTCF-related neurodevelopmental disorder
- p.Arg566Cys Single submitter
- p.Arg654Ter Single submitter CTCF-related neurodevelopmental disorder
- p.Asn241fs Single submitter CTCF-related neurodevelopmental disorder
- p.Asp290fs Single submitter CTCF-related neurodevelopmental disorder
- p.Asp390Asn Single submitter CTCF-related neurodevelopmental disorder
- p.Asp390Gly Single submitter CTCF-related neurodevelopmental disorder
- p.Asp390Val Single submitter Inborn genetic diseases
- p.Asp547fs Single submitter acute megakaryoblastic leukemia in down syndrome
- p.Cys327Ser Single submitter CTCF-related neurodevelopmental disorder
- p.Cys353fs Single submitter
- p.Cys384Arg Single submitter CTCF-related neurodevelopmental disorder
- p.Cys409Tyr Single submitter CTCF-related neurodevelopmental disorder
- p.Gln459Pro Single submitter CTCF-related neurodevelopmental disorder
- p.Gln94Ter Single submitter intellectual disability
- p.Glu336Gln Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Gly335Arg Single submitter
- p.Gly335fs Single submitter
- p.His345Tyr Single submitter
- p.His373Gln Single submitter CTCF-related neurodevelopmental disorder
- p.His373Pro Single submitter CTCF-related neurodevelopmental disorder
- p.His455Gln Single submitter CTCF-related neurodevelopmental disorder
- p.His573Arg Single submitter Inborn genetic diseases
- p.Ile426_His430del Single submitter Inborn genetic diseases
- p.Leu366Phe Single submitter CTCF-related disorder
- p.Leu98Ter Single submitter CTCF-related neurodevelopmental disorder
- p.Lys344Glu Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Met1del Single submitter CTCF-related neurodevelopmental disorder
- p.Tyr25Ter Single submitter CTCF-related neurodevelopmental disorder
- p.Tyr386Cys Single submitter CTCF-related neurodevelopmental disorder
- p.Tyr407Cys Single submitter
- p.Tyr502fs Single submitter acute megakaryoblastic leukemia in down syndrome
- p.Val100fs Single submitter CTCF-related neurodevelopmental disorder
- p.Val225fs Single submitter CTCF-related neurodevelopmental disorder
- p.Val583Leu Single submitter ⚠
Conflicting classifications of pathogenicity 15
- p.Ala697Thr Single submitter CTCF-related disorder ⚠
- p.Arg339Gln Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Arg377His Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Arg377Ser Single submitter ⚠
- p.Asn713Lys Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Cys525Gly Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Gln676Arg Single submitter Inborn genetic diseases ⚠
- p.Glu348Lys Single submitter ⚠
- p.Glu376Gly Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.His294Pro Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Lys323= Single submitter Inborn genetic diseases
- p.Met355Thr Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Pro662= Single submitter Inborn genetic diseases
- p.Pro712Ser Single submitter Inborn genetic diseases ⚠
- p.Ser360Ile Single submitter CTCF-related neurodevelopmental disorder ⚠
Benign 21
- c.1087-88C>G Multiple submitters
- c.1838-146T>C Multiple submitters
- c.2000-232C>T Multiple submitters
- c.-9-278G>A Multiple submitters
- c.*29T>G Multiple submitters
- p.Ser388= Multiple submitters Inborn genetic diseases
- p.Val6= Multiple submitters
- c.1087-9G>A Single submitter
- c.1208-212T>C Single submitter
- c.1358-259_1358-253del Single submitter
- c.1358-82dup Single submitter
- c.1519-7G>A Single submitter
- c.1837+203C>T Single submitter
- c.1837+265G>A Single submitter
- c.1837+281G>A Single submitter
- c.1838-120TA[11] Single submitter
- c.1838-120TA[15] Single submitter
- c.1838-132dup Single submitter
- c.-9-11C>T Single submitter
- c.-9-160_-9-158del Single submitter
- p.Thr717= Single submitter
Benign/Likely benign 7
- c.1702-10T>C Multiple submitters CTCF-related neurodevelopmental disorder
- p.Ala503= Multiple submitters Inborn genetic diseases
- p.Ala629= Multiple submitters Inborn genetic diseases
- p.Asn713= Multiple submitters Inborn genetic diseases
- p.Glu626= Multiple submitters
- p.Glu719= Multiple submitters Inborn genetic diseases
- p.Pro643Ser Multiple submitters CTCF-related neurodevelopmental disorder ⚠
Likely benign 64
- c.1208-98C>G Multiple submitters
- c.*72C>T Multiple submitters
- p.Arg28= Multiple submitters Inborn genetic diseases
- p.Arg654= Multiple submitters CTCF-related neurodevelopmental disorder
- p.Asn55= Multiple submitters Inborn genetic diseases
- p.Gly585= Multiple submitters Inborn genetic diseases
- p.Pro378= Multiple submitters Inborn genetic diseases
- p.Pro41Ala Multiple submitters
- p.Pro696= Multiple submitters Inborn genetic diseases
- p.Tyr410= Multiple submitters Inborn genetic diseases
- c.1086+259G>A Single submitter
- c.1087-136G>T Single submitter
- c.1207+234T>G Single submitter
- c.1207+276A>G Single submitter
- c.1837+200G>A Single submitter
- c.1837+213C>T Single submitter
- c.1837+238_1837+259del Single submitter
- c.1837+273G>A Single submitter
- c.1837+4A>G Single submitter
- c.1838-120TA[16] Single submitter
- c.2000-196C>T Single submitter
- c.2000-3C>T Single submitter
- c.952+141T>C Single submitter
- c.-127+3129G>T Single submitter
- p.Ala302= Single submitter
- p.Arg505= Single submitter
- p.Arg567Leu Single submitter
- p.Arg603= Single submitter Inborn genetic diseases
- p.Asn102= Single submitter Inborn genetic diseases
- p.Asn568= Single submitter Inborn genetic diseases
- p.Cys296= Single submitter
- p.Gln192= Single submitter
- p.Gln380= Single submitter
- p.Gln44Arg Single submitter ⚠
- p.Glu234Asp Single submitter Inborn genetic diseases
- p.Glu478= Single submitter Inborn genetic diseases
- p.Glu590Gln Single submitter ⚠
- p.Glu627= Single submitter
- p.His425= Single submitter
- p.His438= Single submitter Inborn genetic diseases
- p.Ile511= Single submitter
- p.Leu236= Single submitter
- p.Leu309= Single submitter
- p.Leu366= Single submitter Inborn genetic diseases
- p.Lys244= Single submitter
- p.Lys530= Single submitter
- p.Pro125= Single submitter
- p.Ser130= Single submitter
- p.Ser238= Single submitter
- p.Thr289= Single submitter
- p.Thr45Met Single submitter Inborn genetic diseases
- p.Thr591Met Single submitter Inborn genetic diseases ⚠
- p.Tyr358= Single submitter
- p.Val101= Single submitter
- p.Val122= Single submitter
- p.Val50= Single submitter
- p.Val51= Single submitter
- p.Val630Ile Single submitter Inborn genetic diseases
- c.1358-8G>A No assertion criteria CTCF-related disorder
- p.Asp328= No assertion criteria CTCF-related disorder
- p.Asp46Asn No assertion criteria intellectual disability
- p.Lys467= No assertion criteria CTCF-related disorder
- p.Phe550= No assertion criteria CTCF-related disorder
- p.Ser558= No assertion criteria CTCF-related disorder
Uncertain significance 171
- p.Arg213His Multiple submitters CTCF-related neurodevelopmental disorder ⚠
- p.Arg277Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg278Leu Multiple submitters CTCF-related neurodevelopmental disorder ⚠
- p.Arg341His Multiple submitters ⚠
- p.Arg371Cys Multiple submitters CTCF-related neurodevelopmental disorder ⚠
- p.Cys299Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu691del Multiple submitters
- p.Gly261Val Multiple submitters CTCF-related neurodevelopmental disorder ⚠
- p.Gly657Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile511Val Multiple submitters Inborn genetic diseases ⚠
- c.1357+4A>C Single submitter CTCF-related neurodevelopmental disorder
- c.1519-3C>G Single submitter Inborn genetic diseases
- c.-127+2T>C Single submitter
- c.*4C>T Single submitter
- p.Ala148Gly Single submitter Inborn genetic diseases ⚠
- p.Ala148Val Single submitter Inborn genetic diseases ⚠
- p.Ala242Val Single submitter ⚠
- p.Ala359Pro Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Ala359Thr Single submitter Inborn genetic diseases ⚠
- p.Ala503Thr Single submitter ⚠
- p.Ala524Thr Single submitter ⚠
- p.Ala553= Single submitter
- p.Ala554Val Single submitter ⚠
- p.Ala5Val Single submitter Inborn genetic diseases ⚠
- p.Ala629Val Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Ala648Thr Single submitter ⚠
- p.Ala697Ser Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Ala83Pro Single submitter Inborn genetic diseases ⚠
- p.Ala83Ser Single submitter ⚠
- p.Arg213Cys Single submitter Inborn genetic diseases ⚠
- p.Arg22Lys Single submitter Inborn genetic diseases ⚠
- p.Arg301Gly Single submitter ⚠
- p.Arg320Cys Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Arg341Cys Single submitter ⚠
- p.Arg457Gln Single submitter ⚠
- p.Arg457Gly Single submitter ⚠
- p.Arg470His Single submitter Inborn genetic diseases ⚠
- p.Arg566His Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Arg654Gln Single submitter ⚠
- p.Asn172Lys Single submitter ⚠
- p.Asn43Ser Single submitter Inborn genetic diseases ⚠
- p.Asn491Lys Single submitter ⚠
- p.Asn491Thr Single submitter ⚠
- p.Asn549Asp Single submitter Inborn genetic diseases ⚠
- p.Asn55Ser Single submitter ⚠
- p.Asn587Asp Single submitter ⚠
- p.Asp188His Single submitter ⚠
- p.Asp196Asn Single submitter ⚠
- p.Asp220Gly Single submitter ⚠
- p.Asp36Gly Single submitter syndromic X-linked intellectual disability Shashi type ⚠
- p.Asp390Tyr Single submitter ⚠
- p.Asp501Asn Single submitter ⚠
- p.Asp529Asn Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Asp529Val Single submitter ⚠
- p.Asp547Asn Single submitter ⚠
- p.Asp675Glu Single submitter Inborn genetic diseases ⚠
- p.Asp67Glu Single submitter Inborn genetic diseases ⚠
- p.Asp710Glu Single submitter Inborn genetic diseases ⚠
- p.Cys268Arg Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Cys271Trp Single submitter ⚠
- p.Cys353Arg Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Cys353Gly Single submitter intellectual disability ⚠
- p.Cys356Gly Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Cys412Tyr Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Cys472Arg Single submitter CTCF-related disorder ⚠
- p.Gln117His Single submitter ⚠
- p.Gln180_Gly181insGln Single submitter CTCF-related neurodevelopmental disorder
- p.Gln186Arg Single submitter ⚠
- p.Gln192Pro Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Gln44Lys Single submitter Inborn genetic diseases ⚠
- p.Gln459Arg Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Gln459Glu Single submitter ⚠
- p.Gln52Pro Single submitter ⚠
- p.Gln664His Single submitter ⚠
- p.Gln666His Single submitter Inborn genetic diseases ⚠
- p.Gln72His Single submitter ⚠
- p.Glu105Lys Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Glu179Lys Single submitter ⚠
- p.Glu35Gly Single submitter ⚠
- p.Glu478Lys Single submitter ⚠
- p.Glu586Ala Single submitter ⚠
- p.Glu698Gly Single submitter Inborn genetic diseases ⚠
- p.Glu719Val Single submitter ⚠
- p.Gly146Asp Single submitter ⚠
- p.Gly318Arg Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Gly31Ala Single submitter ⚠
- p.Gly47Glu Single submitter ⚠
- p.Gly519Arg Single submitter ⚠
- p.Gly582Val Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Gly597Arg Single submitter Inborn genetic diseases ⚠
- p.Gly679Asp Single submitter Inborn genetic diseases ⚠
- p.Gly714Arg Single submitter ⚠
- p.His297Arg Single submitter ⚠
- p.His347Tyr Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.His373Tyr Single submitter ⚠
- p.His430Asp Single submitter Inborn genetic diseases ⚠
- p.His477Pro Single submitter ⚠
- p.His489Asn Single submitter ⚠
- p.His541Asp Single submitter Inborn genetic diseases ⚠
- p.His541Leu Single submitter CTCF-related syndromic intellectual disability ⚠
- p.Ile110Val Single submitter Inborn genetic diseases ⚠
- p.Ile411Phe Single submitter ⚠
- p.Ile632Thr Single submitter Inborn genetic diseases ⚠
- p.Ile670Met Single submitter Inborn genetic diseases ⚠
- p.Leu113Ile Single submitter ⚠
- p.Leu147Phe Single submitter ⚠
- p.Leu308Phe Single submitter ⚠
- p.Leu313del Single submitter
- p.Leu383_Ser385del Single submitter
- p.Leu40Phe Single submitter Inborn genetic diseases ⚠
- p.Leu40Val Single submitter ⚠
- p.Leu70Phe Single submitter ⚠
- p.Lys144Thr Single submitter ⚠
- p.Lys264del Single submitter
- p.Lys405Arg Single submitter ⚠
- p.Lys423Asn Single submitter ⚠
- p.Lys490Glu Single submitter Inborn genetic diseases ⚠
- p.Lys514Arg Single submitter Inborn genetic diseases ⚠
- p.Lys601Arg Single submitter ⚠
- p.Lys606Glu Single submitter ⚠
- p.Met103Val Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met355Val Single submitter ⚠
- p.Phe266Leu Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Phe351Tyr Single submitter ⚠
- p.Phe416Leu Single submitter ⚠
- p.Pro185His Single submitter ⚠
- p.Pro189Thr Single submitter Inborn genetic diseases ⚠
- p.Pro195Ala Single submitter ⚠
- p.Pro321Leu Single submitter ⚠
- p.Pro325Arg Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Pro41Ser Single submitter Inborn genetic diseases ⚠
- p.Pro440Ser Single submitter ⚠
- p.Pro638Arg Single submitter Inborn genetic diseases ⚠
- p.Pro646Ser Single submitter Inborn genetic diseases ⚠
- p.Pro68Arg Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Pro692Leu Single submitter Inborn genetic diseases ⚠
- p.Pro712Arg Single submitter ⚠
- p.Ser130Pro Single submitter Inborn genetic diseases ⚠
- p.Ser13Ala Single submitter ⚠
- p.Ser210Asn Single submitter Inborn genetic diseases ⚠
- p.Ser360Arg Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Ser372Phe Single submitter Inborn genetic diseases ⚠
- p.Ser388Asn Single submitter ⚠
- p.Ser57Asn Single submitter ⚠
- p.Ser604Pro Single submitter Inborn genetic diseases ⚠
- p.Ser609Phe Single submitter ⚠
- p.Ser609Tyr Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Ser610Phe Single submitter ⚠
- p.Thr177Ala Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Thr204Ser Single submitter ⚠
- p.Thr215Ala Single submitter Inborn genetic diseases ⚠
- p.Thr659Ile Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Tyr226Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr407His Single submitter ⚠
- p.Tyr480Cys Single submitter ⚠
- p.Val131Ile Single submitter cleft palate ⚠
- p.Val175Met Single submitter ⚠
- p.Val225Ile Single submitter ⚠
- p.Val306Ile Single submitter ⚠
- p.Val338Phe Single submitter Inborn genetic diseases ⚠
- p.Val475Met Single submitter ⚠
- p.Val50Met Single submitter ⚠
- p.Val54Phe Single submitter ⚠
- p.Val551Leu Single submitter ⚠
- p.Val630Leu Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Ala669Thr No assertion criteria CTCF-related disorder ⚠
- p.Glu79Gly No assertion criteria CTCF-related neurodevelopmental disorder ⚠
- p.Gly375Glu No assertion criteria CTCF-related disorder ⚠
- p.Val10Ala No assertion criteria CTCF-related disorder ⚠
- p.Val262Ile No assertion criteria CTCF-related neurodevelopmental disorder ⚠