Sugi Variant

Sugi Variant/DNMT3B

DNMT3B — 883 ClinVar variants

All ClinVar germline DNMT3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 252 flagged for review →

21 Pathogenic · 7 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 48 Conflicting · 19 Benign · 16 Benign/Likely benign · 460 Likely benign · 299 Uncertain significance

Full DNMT3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 252

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 24

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 194

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 194

Predictors split 34

The independent predictors disagree with each other — read with care.

All DNMT3B variants

Pathogenic 21

  • p.Val818Met Multiple submitters DNMT3B-related disorders
  • p.Arg252Ter Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg485Ter Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg49Ter Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg54Ter Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg733Ter Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Gly231Ter Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Gly3fs Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Leu489fs Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Met332fs Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ser32fs Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ser682fs Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ser749Ter Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Trp260Ter Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Val606Ala Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp817Gly No assertion criteria immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Cys527Arg No assertion criteria facioscapulohumeral muscular dystrophy 4, digenic
  • p.Gln30Ter No assertion criteria immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Gly663Ser No assertion criteria immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Ser270Pro No assertion criteria immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Val746Gly No assertion criteria immunodeficiency-centromeric instability-facial anomalies syndrome 1

Pathogenic/Likely pathogenic 7

  • c.2421-11G>A Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Ala603Thr Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg826Cys Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Asp653Asn Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Gln783fs Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Val613Ala Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Val726Gly Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome

Likely pathogenic 13

  • p.Arg840Gln Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.His814Arg Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • c.1996+2T>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2146-1G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.433-29_433-1del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.433-2A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.654+1G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala766Pro Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg670Gln Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg823Gly Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Gly534fs Single submitter DNMT3B-related disorders
  • p.Gly810Cys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Tyr188fs Single submitter

Conflicting classifications of pathogenicity 48

  • c.1297+10T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1297+6G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.143-8C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.143-9C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1490+8C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1490+9T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1996+6C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1996+7A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.1996+9C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.307-15C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.433-13C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.921+13G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.922-8C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala585Val Single submitter DNMT3B-related disorders ⚠
  • p.Arg127Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg299= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Arg363His Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg364His Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg382Cys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Arg733Gln Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg764Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg826His Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asp172= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Glu39Gln Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Glu761Gln Single submitter Inborn genetic diseases ⚠
  • p.Gly15Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly198Glu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly198Trp Single submitter DNMT3B-related disorder ⚠
  • p.Gly25Arg Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly407Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Ile345= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ile721Thr Single submitter facioscapulohumeral muscular dystrophy 4, digenic ⚠
  • p.Leu228= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Leu714= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Lys540= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Phe843= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Pro203Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro240= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Pro44= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Ser34= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Ser437Pro Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser53Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Tyr404Cys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val296Ile Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val602Ile Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Val613Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val746Met Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val836Met Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠

Benign 19

  • c.1760-17C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-8C>G Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.1996+6C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.307-49C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.-274C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.-6-176C>T Multiple submitters
  • c.*443C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*827A>G Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Asn626= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Asp471= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Asp627= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.143-22del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-5del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.204+13C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2302-212T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.*75C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*895T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Asn405= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.His117Tyr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome

Benign/Likely benign 16

  • c.1126+15T>C Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.1252+13T>G Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-5C>G Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-8C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1906-5T>C Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Ala14= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala384Thr Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Cys524= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Gln519= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Gly453= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Gly640= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Lys685= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Pro641= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ser112= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Tyr558= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Tyr815= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome

Likely benign 460

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1066+12T>C Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1378-17T>G Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1674+18G>A Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1674+9C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1906-11C>G Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2146-6C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2421-12C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2421-4C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.306+12C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.432+8C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.813+8C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala585= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala844= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg42Cys Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg537= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn24= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn406= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp134= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp266= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp433= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.His337= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Leu22= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Leu325= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Leu664= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Pro137= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Pro203= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Pro684= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ser53= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ser649= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ser778= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ser780= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ser835= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Thr156= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Thr84= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Tyr624= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Val535Ile Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1066+13C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1066+15C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1066+16C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1066+17A>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1066+18dup Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1066+19G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1067-12T>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1067-15T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1067-16G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1067-20_1067-17del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1067-6C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1126+13T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1126+15T>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1126+15T>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1126+7C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1127-15A>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1127-17C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1127-9C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1252+13T>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1252+14A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1252+15C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1252+17T>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1252+18G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1252+8T>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1252+8T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1253-13C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1253-17del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1253-19C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1253-19CTT[2] Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1253-20C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1253-20C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1253-5A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1253-8C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1297+12T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1297+14C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1297+15C>T Single submitter
  • c.1297+19C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1297+20A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1297+7T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1297+9C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1297+9C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1298-16C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1298-17C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1298-20C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1298-6T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1377+10_1377+12del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1377+13A>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1377+13A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1377+14C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1377+16_1377+18del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1377+19G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1378-11C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1378-15C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.142+10C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.142+17G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.142+20T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.142+20T>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.142+7G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.143-10T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.143-20C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.143-5T>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1490+10G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1490+11G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1490+17G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1490+9T>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1491-4C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1491-6G>A Single submitter
  • c.1491-7G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1491-9T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1674+14dup Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1674+17C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1674+18G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1674+7C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1675-4G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1675-9A>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1675-9del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1759+11G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1759+17C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1759+18C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-11G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-12T>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-13C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-15C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-19G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-5C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1905+10G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1905+12_1905+15del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1905+14G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1905+19T>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1905+9A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1906-14TC[5] Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1906-15_1906-10del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1906-15G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1906-16T>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1906-17C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1906-18T>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1906-5T>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1906-8T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1996+12TC[2] Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1996+14T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1996+16T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1996+19G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1996+19G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1997-15C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1997-18C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1997-20G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.204+14T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.204+18C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.204+8C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.205-14G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.205-16A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.205-18T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.205-20C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.205-4A>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.205-5T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.205-6A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.205-9C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2145+11C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2145+14G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2145+15G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2145+17A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2145+18C>T Single submitter
  • c.2145+8A>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2145+9A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2146-14_2146-12del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2146-19A>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2146-7C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2231+11G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2231+11G>T Single submitter
  • c.2231+13T>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2231+15T>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2231+16T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2231+8A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2231+9G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+10G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+10G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+13del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+13G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+18_2301+21del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+18C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+6dup Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+7_2301+8insACT Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+7C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+8G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+8G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+8G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2302-11T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2302-7T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2420+10G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2420+10G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2420+10G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2420+13G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2420+14C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2420+19G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2420+23_2420+24del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2421-13C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2421-15C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2421-7C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.306+10del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.306+14C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.306+17C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.306+17C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.306+17C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.306+18G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.306+18G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.306+20G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.307-12T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.307-4C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.307-8G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.432+11C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.432+12A>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.432+12A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.432+17C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.432+18C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.432+9C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.433-10C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.433-14C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.433-16G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.433-19T>C Single submitter
  • c.433-20A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.433-7T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.433-8G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.433-8G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.654+11G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.654+12_654+13del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.654+15G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.654+16G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.654+9G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.655-16G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.655-17T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.655-4C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.655-4C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.655-8T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.813+16G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.813+17G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.813+8C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.813+9G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.813+9G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.814-4T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.921+10del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.921+19A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.922-10G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.922-14C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.922-18_922-17del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.922-4G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.-4A>G Single submitter
  • c.*763A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*942A>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Ala189= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala189Thr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala241= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala248= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala26= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala290= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala309= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala336= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala365= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala388= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala514= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala566= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala723= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala825= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg104= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg114= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg125= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg127= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg259= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg363= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg382= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg410= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg42= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg42Gly Single submitter
  • p.Arg461= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg47= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg50= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg54= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg733= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg823= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Arg832= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn131= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn351= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn402= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn492= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn543= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn621= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn652= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn738= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn786= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn820= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp13= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp176= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp19= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp208= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp213= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp323= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp33= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp385= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp391= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp472= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp582= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp689= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp706= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp75= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asp798= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome

Uncertain significance 299

  • c.1297+5C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.142+4G>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-6_1760-5inv Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala14Pro Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ala365Val Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ala513Val Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Ala569Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala585Thr Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Arg114Gln Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Arg122Cys Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg122His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg127Gln Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg130His Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg148Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg149Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg149Trp Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg190Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg310Ser Multiple submitters DNMT3B-related disorder ⚠
  • p.Arg380Gln Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Arg459Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg497Gln Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg531Cys Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg531His Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg537Trp Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg92Gln Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg92Trp Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg97His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn786Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp722Asn Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Gln787His Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Glu135Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu216Gly Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly339Asp Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly339Val Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly452Arg Multiple submitters ⚠
  • p.Gly48Asp Multiple submitters Inborn genetic diseases
  • p.Gly555Val Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly587Asp Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly620Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly741Arg Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ile636Val Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Leu399Phe Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Lys592Arg Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Met242Leu Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Phe446Ser Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro101Ser Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro396Ser Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro443Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro529Leu Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Pro691Leu Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser319Cys Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser56Phe Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser682Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser778Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr156Met Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Thr180Met Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Thr43Ile Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Thr5Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Trp542Cys Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Tyr469Cys Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Tyr474Cys Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Val444Met Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val544Met Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Val628Met Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • c.1252+6T>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1297+3A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1378-3C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.142+3G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.143-3C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1491-8G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-6_1760-5delinsTG Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.1760-6C>G Single submitter Inborn genetic diseases
  • c.1760-9C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.1905+6G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2231+5C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2232-3C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2232-6T>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2301+3A>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.2302-21_2302-20delinsGA Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.433-9T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.814-3T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.921+5C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • c.-105C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.-163A>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.-212C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.-21C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.-224C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.-234G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.-264C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.-267C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.-303G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.-62C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*101G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*1076C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*112C>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*1132C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*113G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*1332C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*1336G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*1350G>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*1405C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*183C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*312C>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*55G>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*560C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*577C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*602C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*654G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*70G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*747C>T Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*754G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*765G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*832T>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*90T>G Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • c.*930G>A Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Ala207Thr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ala26Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala395Thr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ala395Val Single submitter Inborn genetic diseases ⚠
  • p.Ala425Val Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ala513Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ala612Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ala728= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Ala748Thr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ala748Val Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg104Gln Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg106Gln Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg114Trp Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg118Gly Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg125Gln Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg130Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg148Gln Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg190His Single submitter Inborn genetic diseases ⚠
  • p.Arg259Gln Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg259Trp Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg312Pro Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg363Cys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg485Gln Single submitter ⚠
  • p.Arg497Gly Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg497Trp Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg539Trp Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg545His Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg571Gln Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg670Trp Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg683Cys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg764Lys Single submitter ⚠
  • p.Arg823His Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg826Gly Single submitter ⚠
  • p.Arg826Leu Single submitter ⚠
  • p.Arg97Cys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Arg97Gly Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asn107Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asn131Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn293Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn352Lys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asn358Asp Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asn377Lys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asn427del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Asn442Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asn492Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asn820Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asp134Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp169Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp173Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asp194Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp19Glu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asp213Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp219Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asp29Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asp327Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp385Glu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asp4His Single submitter Inborn genetic diseases ⚠
  • p.Asp706Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Asp75Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Cys403Tyr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Gln128His Single submitter ⚠
  • p.Gln197His Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gln253Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln262Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln285Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln415Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln456His Single submitter Inborn genetic diseases ⚠
  • p.Glu45Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu515Lys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Glu674Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu686Asp Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Glu686Gly Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Glu755_Leu756del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Glu755Lys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Glu806Lys Single submitter ⚠
  • p.Gly126Ala Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly198Arg Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly199Arg Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly199Asp Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly338Arg Single submitter Inborn genetic diseases
  • p.Gly347Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly347Val Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly407Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly452Glu Single submitter ⚠
  • p.Gly452Val Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly599Glu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly614Glu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly620= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Gly76Arg Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Gly795Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly81Ala Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.His730Tyr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ile567Thr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ile631Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile724Met Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Ile765Val Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Leu146Pro Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Leu333Met Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Leu370Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Leu454Phe Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Leu518Val Single submitter Inborn genetic diseases ⚠
  • p.Leu679del Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Lys247Glu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Lys597= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • p.Lys600Asn Single submitter Inborn genetic diseases
  • p.Lys623Arg Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Lys634Glu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Lys770Glu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Lys782Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Lys785Glu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Met242Ile Single submitter Inborn genetic diseases ⚠
  • p.Met255Ile Single submitter Inborn genetic diseases ⚠
  • p.Met255Val Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Met302Ile Single submitter Inborn genetic diseases ⚠
  • p.Met302Thr Single submitter Inborn genetic diseases ⚠
  • p.Met302Val Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Met468Lys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Met720Ile Single submitter Inborn genetic diseases ⚠
  • p.Met793Val Single submitter Inborn genetic diseases ⚠
  • p.Pro119Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro159Gln Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro159Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro187Arg Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro187His Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro355= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Pro443Ala Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro44Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro44Ser Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro521Ser Single submitter ⚠
  • p.Pro659Thr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro85Ala Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Pro85Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser110Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser136Cys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser136Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser153Thr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser163Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser195Arg Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser195Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser195Gly Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser209Gly Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser215Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser237Cys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser320Arg Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Ser34Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser360Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser387Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser491Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser52Arg Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Ser61Phe Single submitter Inborn genetic diseases
  • p.Thr105Ile Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Thr143Ile Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Thr177Ala Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Thr186Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr353Met Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Thr379Ile Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Thr389Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Thr493Met Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Thr615Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Thr632Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr816Ile Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Thr84Asn Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Trp834Ser Single submitter ⚠
  • p.Tyr303Phe Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Tyr375= Single submitter
  • p.Tyr392His Single submitter Inborn genetic diseases ⚠
  • p.Tyr558Cys Single submitter
  • p.Tyr66Cys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val111Ile Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val138Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val23Ile Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val311Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val362Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Val424Ile Single submitter Inborn genetic diseases ⚠
  • p.Val60Met Single submitter
  • p.Val616Met Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val625Met Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • p.Val699Leu Single submitter ⚠
  • p.Val704Ile Single submitter Inborn genetic diseases ⚠
  • p.Val746= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome
  • p.Val771Ile Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 1 ⚠
  • p.Val818Leu Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome ⚠
  • c.-6-168G>A No assertion criteria DNMT3B-related disorder
  • p.Gly226Glu No assertion criteria ⚠