MCM2 — 400 ClinVar variants
All ClinVar germline MCM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 207 flagged for review →
2 Likely pathogenic · 13 Conflicting · 22 Benign · 21 Benign/Likely benign · 121 Likely benign · 221 Uncertain significance
Full MCM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 207
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- MCM2 p.Arg118Gln Conflicting Single submitter
- MCM2 p.Arg783Gln Conflicting Single submitter
- MCM2 p.Arg820Cys Conflicting Single submitter
- MCM2 p.Asn333Ser Conflicting Single submitter
- MCM2 p.Asn364Lys Conflicting Single submitter
- MCM2 p.Asp208Asn Conflicting Single submitter
- MCM2 p.Ile485Thr Conflicting Single submitter
- MCM2 p.Met811Val Conflicting Single submitter
- MCM2 p.Thr857Ile Conflicting Single submitter
- MCM2 p.Val810Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 137
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MCM2 p.Ala148Thr Uncertain significance Multiple submitters
- MCM2 p.Ala2Glu Uncertain significance Multiple submitters
- MCM2 p.Ala400Thr Uncertain significance Multiple submitters
- MCM2 p.Arg126Gln Uncertain significance Multiple submitters
- MCM2 p.Arg149His Uncertain significance Multiple submitters
- MCM2 p.Arg227His Uncertain significance Multiple submitters
-
MCM2 p.Arg284Cys
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 70
- MCM2 p.Arg34Pro Uncertain significance Multiple submitters
- MCM2 p.Arg377Gln Uncertain significance Multiple submitters
- MCM2 p.Arg392Cys Uncertain significance Multiple submitters
-
MCM2 p.Arg562Trp
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 70
- MCM2 p.Arg623Cys Uncertain significance Multiple submitters
- MCM2 p.Arg677His Uncertain significance Multiple submitters
- MCM2 p.Arg796His Uncertain significance Multiple submitters
- MCM2 p.Arg870His Uncertain significance Multiple submitters
- MCM2 p.Asn430Ile Uncertain significance Multiple submitters
- MCM2 p.Asn430Ser Uncertain significance Multiple submitters
- MCM2 p.Asn518Ser Uncertain significance Multiple submitters
- MCM2 p.Asp138Gly Uncertain significance Multiple submitters
- MCM2 p.Asp894Asn Uncertain significance Multiple submitters
- MCM2 p.Gln854Arg Uncertain significance Multiple submitters
- MCM2 p.Gln854Leu Uncertain significance Multiple submitters
- MCM2 p.Gly359Ser Uncertain significance Multiple submitters
- MCM2 p.Pro14Ala Uncertain significance Multiple submitters
-
MCM2 p.Pro504Thr
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 70
-
MCM2 p.Ser220Gly
Uncertain significance
Multiple submitters
MCM2-related disorder
- MCM2 p.Ser342Tyr Uncertain significance Multiple submitters
- MCM2 p.Thr763Met Uncertain significance Multiple submitters
- MCM2 p.Tyr137Cys Uncertain significance Multiple submitters
- MCM2 p.Val335Ile Uncertain significance Multiple submitters
- MCM2 p.Ala107Gly Uncertain significance Single submitter
- MCM2 p.Ala116Thr Uncertain significance Single submitter
- MCM2 p.Ala11Thr Uncertain significance Single submitter
-
MCM2 p.Ala253Val
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 70
- MCM2 p.Ala269Ser Uncertain significance Single submitter
- MCM2 p.Ala386Val Uncertain significance Single submitter
- MCM2 p.Ala400Gly Uncertain significance Single submitter
- MCM2 p.Ala558Val Uncertain significance Single submitter
- MCM2 p.Ala573Ser Uncertain significance Single submitter
- MCM2 p.Ala614Ser Uncertain significance Single submitter
- MCM2 p.Ala756Thr Uncertain significance Single submitter
- MCM2 p.Ala794Val Uncertain significance Single submitter
- MCM2 p.Ala83Thr Uncertain significance Single submitter
- MCM2 p.Ala89Thr Uncertain significance Single submitter
- MCM2 p.Ala92Ser Uncertain significance Single submitter
- MCM2 p.Arg122Gln Uncertain significance Single submitter
- MCM2 p.Arg126Trp Uncertain significance Single submitter
-
MCM2 p.Arg130Cys
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 70
- MCM2 p.Arg130His Uncertain significance Single submitter
-
MCM2 p.Arg149Gly
Uncertain significance
Single submitter
MCM2-related disorder
- MCM2 p.Arg156Gln Uncertain significance Single submitter
- MCM2 p.Arg198His Uncertain significance Single submitter
- MCM2 p.Arg227Cys Uncertain significance Single submitter
- MCM2 p.Arg240Gly Uncertain significance Single submitter
- MCM2 p.Arg284His Uncertain significance Single submitter
- MCM2 p.Arg295Cys Uncertain significance Single submitter
- MCM2 p.Arg33Pro Uncertain significance Single submitter
- MCM2 p.Arg33Trp Uncertain significance Single submitter
- MCM2 p.Arg392His Uncertain significance Single submitter
- MCM2 p.Arg44His Uncertain significance Single submitter
- MCM2 p.Arg562Leu Uncertain significance Single submitter
- MCM2 p.Arg623His Uncertain significance Single submitter
- MCM2 p.Arg779His Uncertain significance Single submitter
- MCM2 p.Arg783Trp Uncertain significance Single submitter
- MCM2 p.Arg796Cys Uncertain significance Single submitter
- MCM2 p.Arg820Leu Uncertain significance Single submitter
- MCM2 p.Arg82His Uncertain significance Single submitter
- MCM2 p.Asn328Asp Uncertain significance Single submitter
- MCM2 p.Asn690Lys Uncertain significance Single submitter
- MCM2 p.Asn698Ser Uncertain significance Single submitter
- MCM2 p.Asn876Ser Uncertain significance Single submitter
- MCM2 p.Asp101Asn Uncertain significance Single submitter
- MCM2 p.Asp160Tyr Uncertain significance Single submitter
- MCM2 p.Asp236Glu Uncertain significance Single submitter
- MCM2 p.Asp423His Uncertain significance Single submitter
- MCM2 p.Asp423Val Uncertain significance Single submitter
- MCM2 p.Asp524Asn Uncertain significance Single submitter
- MCM2 p.Cys661Phe Uncertain significance Single submitter
- MCM2 p.Gln153Glu Uncertain significance Single submitter
- MCM2 p.Gln16His Uncertain significance Single submitter
- MCM2 p.Gln257His Uncertain significance Single submitter
- MCM2 p.Gln379Arg Uncertain significance Single submitter
- MCM2 p.Gln903His Uncertain significance Single submitter
- MCM2 p.Glu104Gln Uncertain significance Single submitter
- MCM2 p.Glu141Asp Uncertain significance Single submitter
- MCM2 p.Glu254Asp Uncertain significance Single submitter
- MCM2 p.Glu673Lys Uncertain significance Single submitter
- MCM2 p.Glu694Lys Uncertain significance Single submitter
- MCM2 p.Glu71Asp Uncertain significance Single submitter
- MCM2 p.Glu788Lys Uncertain significance Single submitter
- MCM2 p.Glu86Gln Uncertain significance Single submitter
- MCM2 p.Gly310Arg Uncertain significance Single submitter
- MCM2 p.Gly61Val Uncertain significance Single submitter
- MCM2 p.His212Tyr Uncertain significance Single submitter
- MCM2 p.His893Arg Uncertain significance Single submitter
- MCM2 p.Ile412Arg Uncertain significance Single submitter
- MCM2 p.Ile417Val Uncertain significance Single submitter
- MCM2 p.Ile464Ser Uncertain significance Single submitter
- MCM2 p.Ile473Phe Uncertain significance Single submitter
- MCM2 p.Ile835Leu Uncertain significance Single submitter
- MCM2 p.Leu715Pro Uncertain significance Single submitter
- MCM2 p.Lys492Arg Uncertain significance Single submitter
- MCM2 p.Lys691Glu Uncertain significance Single submitter
- MCM2 p.Lys898Arg Uncertain significance Single submitter
- MCM2 p.Met365Val Uncertain significance Single submitter
- MCM2 p.Met463Ile Uncertain significance Single submitter
- MCM2 p.Met604Val Uncertain significance Single submitter
- MCM2 p.Pro191His Uncertain significance Single submitter
- MCM2 p.Pro23Leu Uncertain significance Single submitter
- MCM2 p.Pro338Ser Uncertain significance Single submitter
-
MCM2 p.Pro483Ser
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 70
- MCM2 p.Ser13Arg Uncertain significance Single submitter
- MCM2 p.Ser405Gly Uncertain significance Single submitter
- MCM2 p.Ser530Leu Uncertain significance Single submitter
- MCM2 p.Ser769Cys Uncertain significance Single submitter
- MCM2 p.Ser809Arg Uncertain significance Single submitter
- MCM2 p.Thr205Ile Uncertain significance Single submitter
- MCM2 p.Thr35Ile Uncertain significance Single submitter
- MCM2 p.Thr39Pro Uncertain significance Single submitter
- MCM2 p.Thr457Ile Uncertain significance Single submitter
- MCM2 p.Thr465Ala Uncertain significance Single submitter
- MCM2 p.Thr557Met Uncertain significance Single submitter
- MCM2 p.Thr709Met Uncertain significance Single submitter
- MCM2 p.Tyr370Cys Uncertain significance Single submitter
- MCM2 p.Val102Ile Uncertain significance Single submitter
- MCM2 p.Val214Ile Uncertain significance Single submitter
- MCM2 p.Val403Met Uncertain significance Single submitter
- MCM2 p.Val434Leu Uncertain significance Single submitter
- MCM2 p.Val444Leu Uncertain significance Single submitter
- MCM2 p.Val453Ile Uncertain significance Single submitter
- MCM2 p.Val617Ile Uncertain significance Single submitter
- MCM2 p.Val679Met Uncertain significance Single submitter
- MCM2 p.Val680Glu Uncertain significance Single submitter
- MCM2 p.Val684Ile Uncertain significance Single submitter
- MCM2 p.Val712Met Uncertain significance Single submitter
-
MCM2 p.Ala189Val
Uncertain significance
No assertion criteria
MCM2-related disorder
-
MCM2 p.Arg132His
Uncertain significance
No assertion criteria
MCM2-related disorder
Predictors split 60
The independent predictors disagree with each other — read with care.
- MCM2 p.Arg152His Uncertain significance Multiple submitters
- MCM2 p.Arg562Gln Uncertain significance Multiple submitters
- MCM2 p.Arg636His Uncertain significance Multiple submitters
- MCM2 p.Arg730Gly Uncertain significance Multiple submitters
-
MCM2 p.Arg815His
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 70
- MCM2 p.Arg825Trp Uncertain significance Multiple submitters
- MCM2 p.Arg826Cys Uncertain significance Multiple submitters
- MCM2 p.Arg870Cys Uncertain significance Multiple submitters
- MCM2 p.Ser296Leu Uncertain significance Multiple submitters
- MCM2 p.Thr39Ile Uncertain significance Multiple submitters
- MCM2 p.Val667Met Benign Multiple submitters
- MCM2 p.Ala579Gly Uncertain significance Single submitter
- MCM2 p.Ala776Ser Uncertain significance Single submitter
- MCM2 p.Arg118Trp Uncertain significance Single submitter
- MCM2 p.Arg132Cys Uncertain significance Single submitter
- MCM2 p.Arg146Cys Uncertain significance Single submitter
- MCM2 p.Arg146His Uncertain significance Single submitter
- MCM2 p.Arg149Cys Uncertain significance Single submitter
- MCM2 p.Arg151His Uncertain significance Single submitter
- MCM2 p.Arg18Trp Uncertain significance Single submitter
- MCM2 p.Arg204Cys Uncertain significance Single submitter
- MCM2 p.Arg204Leu Uncertain significance Single submitter
- MCM2 p.Arg218His Uncertain significance Single submitter
- MCM2 p.Arg276Cys Uncertain significance Single submitter
- MCM2 p.Arg375Cys Uncertain significance Single submitter
- MCM2 p.Arg820Ser Uncertain significance Single submitter
- MCM2 p.Arg826His Uncertain significance Single submitter
- MCM2 p.Asn303Ser Uncertain significance Single submitter
- MCM2 p.Asn829Asp Uncertain significance Single submitter
- MCM2 p.Asp176Asn Uncertain significance Single submitter
- MCM2 p.Asp176His Uncertain significance Single submitter
- MCM2 p.Cys315Tyr Uncertain significance Single submitter
- MCM2 p.Gln549Arg Uncertain significance Single submitter
- MCM2 p.Glu144Lys Uncertain significance Single submitter
- MCM2 p.Glu162Lys Uncertain significance Single submitter
- MCM2 p.Glu165Lys Uncertain significance Single submitter
-
MCM2 p.Glu411Lys
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 70
- MCM2 p.Glu54Lys Uncertain significance Single submitter
-
MCM2 p.Glu93Lys
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 70
- MCM2 p.Gly474Arg Uncertain significance Single submitter
- MCM2 p.Gly494Val Uncertain significance Single submitter
- MCM2 p.Gly699Cys Uncertain significance Single submitter
- MCM2 p.Leu499Val Uncertain significance Single submitter
- MCM2 p.Lys150Glu Uncertain significance Single submitter
- MCM2 p.Lys512Asn Conflicting Single submitter
- MCM2 p.Met77Ile Uncertain significance Single submitter
- MCM2 p.Met793Ile Conflicting Single submitter
- MCM2 p.Phe215Leu Uncertain significance Single submitter
- MCM2 p.Phe500Leu Uncertain significance Single submitter
- MCM2 p.Pro191Ser Uncertain significance Single submitter
- MCM2 p.Ser381Gly Uncertain significance Single submitter
- MCM2 p.Ser640Leu Uncertain significance Single submitter
- MCM2 p.Ser813Arg Uncertain significance Single submitter
- MCM2 p.Thr625Met Uncertain significance Single submitter
- MCM2 p.Tyr271His Uncertain significance Single submitter
- MCM2 p.Tyr486Cys Uncertain significance Single submitter
- MCM2 p.Val186Ala Uncertain significance Single submitter
- MCM2 p.Val243Ala Uncertain significance Single submitter
- MCM2 p.Val385Met Uncertain significance Single submitter
- MCM2 p.Val444Met Uncertain significance Single submitter
All MCM2 variants
Likely pathogenic 2
- c.1901-1G>C Single submitter
- p.Arg307Pro Single submitter
Conflicting classifications of pathogenicity 13
- p.Arg118Gln Single submitter ⚠
- p.Arg783Gln Single submitter ⚠
- p.Arg820Cys Single submitter ⚠
- p.Asn333Ser Single submitter ⚠
- p.Asn364Lys Single submitter ⚠
- p.Asp164_Glu166dup Single submitter
- p.Asp208Asn Single submitter ⚠
- p.Ile485Thr Single submitter ⚠
- p.Lys512Asn Single submitter ⚠
- p.Met793Ile Single submitter ⚠
- p.Met811Val Single submitter ⚠
- p.Thr857Ile Single submitter ⚠
- p.Val810Ile Single submitter ⚠
Benign 22
- c.1429-107G>A Multiple submitters
- c.1901-26G>C Multiple submitters
- c.2013+10A>G Multiple submitters autosomal dominant nonsyndromic hearing loss 70
- c.2014-128G>A Multiple submitters
- c.236+231C>G Multiple submitters
- c.413-20G>A Multiple submitters
- c.674-6T>C Multiple submitters
- c.674-8C>G Multiple submitters
- p.Ala727Thr Multiple submitters
- p.Arg126= Multiple submitters
- p.Asp68Glu Multiple submitters
- p.Asp790= Multiple submitters
- p.Asp894= Multiple submitters
- p.Ile168= Multiple submitters autosomal dominant nonsyndromic hearing loss 70
- p.Pro42= Multiple submitters
- p.Thr666= Multiple submitters
- p.Val662= Multiple submitters
- p.Val667Met Multiple submitters ⚠
- c.2605-13T>C Single submitter
- c.673+16G>A Single submitter
- p.Arg825Gln Single submitter
- p.Asp164= Single submitter
Benign/Likely benign 21
- c.1773+12G>A Multiple submitters
- c.2013+19C>T Multiple submitters
- c.2448+14G>A Multiple submitters
- c.412+9A>G Multiple submitters
- p.Ala253= Multiple submitters
- p.Ala396Thr Multiple submitters
- p.Ala701Val Multiple submitters
- p.Arg133His Multiple submitters
- p.Arg18Pro Multiple submitters autosomal dominant nonsyndromic hearing loss 70
- p.Arg33Gln Multiple submitters
- p.Arg897= Multiple submitters
- p.Asp160= Multiple submitters
- p.Glu217= Multiple submitters
- p.Gly501Arg Multiple submitters
- p.Gly852= Multiple submitters
- p.Leu399= Multiple submitters
- p.Leu520= Multiple submitters
- p.Ser468= Multiple submitters
- p.Ser552= Multiple submitters
- p.Thr457= Multiple submitters
- p.Tyr274= Multiple submitters
Likely benign 121
- c.1102-5C>T Multiple submitters
- c.1236+9C>T Multiple submitters
- c.2265+14C>T Multiple submitters
- c.2448+13C>T Multiple submitters
- c.2604+10C>T Multiple submitters
- c.2604+9C>T Multiple submitters
- c.673+14A>G Multiple submitters
- p.Ala551= Multiple submitters
- p.Ala630Thr Multiple submitters
- p.Arg812His Multiple submitters
- p.Arg82= Multiple submitters
- p.Asp410= Multiple submitters
- p.Asp668= Multiple submitters
- p.His893= Multiple submitters
- p.Leu135Phe Multiple submitters
- p.Leu193= Multiple submitters
- p.Leu255= Multiple submitters
- p.Leu696= Multiple submitters
- p.Lys150Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 70
- p.Pro48= Multiple submitters
- p.Ser5= Multiple submitters
- p.Ser53= Multiple submitters
- p.Ser530= Multiple submitters
- p.Ser612= Multiple submitters
- p.Ser640= Multiple submitters
- p.Thr106= Multiple submitters
- p.Thr709= Multiple submitters
- p.Val312Leu Multiple submitters
- c.1236+7G>A Single submitter
- c.1428+11GGCAGG[3] Single submitter
- c.1429-18T>C Single submitter
- c.1429-20G>C Single submitter
- c.1522+6C>T Single submitter
- c.1523-15A>T Single submitter
- c.1773+7C>T Single submitter
- c.1774-16C>T Single submitter
- c.1774-4G>A Single submitter
- c.1900+50C>G Single submitter
- c.1901-11_1901-10del Single submitter
- c.1901-199T>C Single submitter
- c.2013+20G>A Single submitter
- c.2014-17C>G Single submitter
- c.2266-17A>G Single submitter
- c.2266-18C>T Single submitter
- c.2266-36T>C Single submitter
- c.2266-6C>T Single submitter
- c.2448+9G>A Single submitter
- c.2604+17G>A Single submitter
- c.413-22C>T Single submitter
- c.413-29G>A Single submitter
- c.673+15C>T Single submitter
- c.674-14G>C Single submitter
- c.674-20C>T Single submitter
- c.674-5del Single submitter
- c.7-16G>A Single submitter
- c.7-19A>G Single submitter
- c.893+12G>A Single submitter
- c.893+17T>C Single submitter
- c.894-16C>T Single submitter
- c.894-20T>G Single submitter
- c.894-4G>A Single submitter
- p.Ala11= Single submitter
- p.Ala189= Single submitter
- p.Ala262= Single submitter
- p.Ala358= Single submitter
- p.Ala441= Single submitter
- p.Ala558= Single submitter
- p.Ala629= Single submitter
- p.Ala841= Single submitter
- p.Ala92= Single submitter
- p.Arg132= Single submitter
- p.Arg146= Single submitter
- p.Arg887= Single submitter
- p.Asn213= Single submitter
- p.Asn427= Single submitter
- p.Asn646= Single submitter
- p.Asp101= Single submitter
- p.Asp275Asn Single submitter
- p.Asp395= Single submitter
- p.Asp672= Single submitter
- p.Asp789= Single submitter
- p.Gln16Arg Single submitter
- p.Gln871= Single submitter
- p.Glu64= Single submitter
- p.Glu694= Single submitter
- p.Glu70= Single submitter
- p.Glu862= Single submitter
- p.Glu93Ala Single submitter
- p.Gly310= Single submitter
- p.Gly61= Single submitter
- p.Gly69= Single submitter
- p.Gly695= Single submitter
- p.His180= Single submitter
- p.His206= Single submitter
- p.His280= Single submitter
- p.His488= Single submitter
- p.Ile277= Single submitter
- p.Ile473= Single submitter
- p.Ile544= Single submitter
- p.Ile616= Single submitter
- p.Ile767= Single submitter
- p.Ile858Thr Single submitter
- p.Leu230= Single submitter
- p.Leu256= Single submitter
- p.Leu319= Single submitter
- p.Leu499= Single submitter
- p.Met324Leu Single submitter
- p.Phe678= Single submitter
- p.Pro28= Single submitter
- p.Pro733= Single submitter
- p.Ser286= Single submitter
- p.Thr308= Single submitter
- p.Thr313= Single submitter
- p.Thr763= Single submitter
- p.Tyr637= Single submitter
- p.Tyr723= Single submitter
- p.Tyr747= Single submitter
- p.Tyr785= Single submitter
- p.Val451= Single submitter
- p.Val860= Single submitter
- c.1101+9G>C No assertion criteria MCM2-related disorder
Uncertain significance 221
- p.Ala148Thr Multiple submitters ⚠
- p.Ala2Glu Multiple submitters ⚠
- p.Ala400Thr Multiple submitters ⚠
- p.Arg126Gln Multiple submitters ⚠
- p.Arg149His Multiple submitters ⚠
- p.Arg152His Multiple submitters ⚠
- p.Arg227His Multiple submitters ⚠
- p.Arg284Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 70 ⚠
- p.Arg34Pro Multiple submitters ⚠
- p.Arg377Gln Multiple submitters ⚠
- p.Arg392Cys Multiple submitters ⚠
- p.Arg562Gln Multiple submitters ⚠
- p.Arg562Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 70 ⚠
- p.Arg623Cys Multiple submitters ⚠
- p.Arg636His Multiple submitters ⚠
- p.Arg677His Multiple submitters ⚠
- p.Arg730Gly Multiple submitters ⚠
- p.Arg796His Multiple submitters ⚠
- p.Arg815His Multiple submitters autosomal dominant nonsyndromic hearing loss 70 ⚠
- p.Arg825Trp Multiple submitters ⚠
- p.Arg826Cys Multiple submitters ⚠
- p.Arg870Cys Multiple submitters ⚠
- p.Arg870His Multiple submitters ⚠
- p.Asn430Ile Multiple submitters ⚠
- p.Asn430Ser Multiple submitters ⚠
- p.Asn518Ser Multiple submitters ⚠
- p.Asp138Gly Multiple submitters ⚠
- p.Asp894Asn Multiple submitters ⚠
- p.Gln854Arg Multiple submitters ⚠
- p.Gln854Leu Multiple submitters ⚠
- p.Gly359Ser Multiple submitters ⚠
- p.Pro14Ala Multiple submitters ⚠
- p.Pro504Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 70 ⚠
- p.Ser220Gly Multiple submitters MCM2-related disorder ⚠
- p.Ser296Leu Multiple submitters ⚠
- p.Ser342Tyr Multiple submitters ⚠
- p.Thr39Ile Multiple submitters ⚠
- p.Thr763Met Multiple submitters ⚠
- p.Tyr137Cys Multiple submitters ⚠
- p.Val335Ile Multiple submitters ⚠
- c.1236+6T>C Single submitter
- c.1429-20G>A Single submitter
- c.1773+4G>T Single submitter
- c.2013+9_2013+10inv Single submitter
- c.236+4A>G Single submitter
- c.2604+3A>G Single submitter
- p.Ala107Gly Single submitter ⚠
- p.Ala116Thr Single submitter ⚠
- p.Ala11Thr Single submitter ⚠
- p.Ala157_Thr158del Single submitter
- p.Ala253Val Single submitter autosomal dominant nonsyndromic hearing loss 70 ⚠
- p.Ala269Ser Single submitter ⚠
- p.Ala386Val Single submitter ⚠
- p.Ala400Gly Single submitter ⚠
- p.Ala558Val Single submitter ⚠
- p.Ala573Ser Single submitter ⚠
- p.Ala579Gly Single submitter ⚠
- p.Ala614Ser Single submitter ⚠
- p.Ala756Thr Single submitter ⚠
- p.Ala776Ser Single submitter ⚠
- p.Ala794Gly Single submitter
- p.Ala794Val Single submitter ⚠
- p.Ala83Thr Single submitter ⚠
- p.Ala89Thr Single submitter ⚠
- p.Ala92Ser Single submitter ⚠
- p.Arg118Trp Single submitter ⚠
- p.Arg122Gln Single submitter ⚠
- p.Arg126Trp Single submitter ⚠
- p.Arg130Cys Single submitter autosomal dominant nonsyndromic hearing loss 70 ⚠
- p.Arg130His Single submitter ⚠
- p.Arg130Leu Single submitter
- p.Arg132Cys Single submitter ⚠
- p.Arg146Cys Single submitter ⚠
- p.Arg146His Single submitter ⚠
- p.Arg149Cys Single submitter ⚠
- p.Arg149Gly Single submitter MCM2-related disorder ⚠
- p.Arg151His Single submitter ⚠
- p.Arg156Gln Single submitter ⚠
- p.Arg18Trp Single submitter ⚠
- p.Arg198His Single submitter ⚠
- p.Arg204Cys Single submitter ⚠
- p.Arg204Leu Single submitter ⚠
- p.Arg218His Single submitter ⚠
- p.Arg227Cys Single submitter ⚠
- p.Arg240Gly Single submitter ⚠
- p.Arg276Cys Single submitter ⚠
- p.Arg276Gly Single submitter
- p.Arg276Leu Single submitter
- p.Arg284His Single submitter ⚠
- p.Arg295Cys Single submitter ⚠
- p.Arg33Pro Single submitter ⚠
- p.Arg33Trp Single submitter ⚠
- p.Arg375Cys Single submitter ⚠
- p.Arg392His Single submitter ⚠
- p.Arg44His Single submitter ⚠
- p.Arg542Ter Single submitter autosomal dominant nonsyndromic hearing loss 70
- p.Arg562Leu Single submitter ⚠
- p.Arg623His Single submitter ⚠
- p.Arg677Cys Single submitter
- p.Arg779His Single submitter ⚠
- p.Arg783Trp Single submitter ⚠
- p.Arg796Cys Single submitter ⚠
- p.Arg820Leu Single submitter ⚠
- p.Arg820Ser Single submitter ⚠
- p.Arg826His Single submitter ⚠
- p.Arg82His Single submitter ⚠
- p.Arg850His Single submitter
- p.Asn303Ser Single submitter ⚠
- p.Asn328Asp Single submitter ⚠
- p.Asn690Lys Single submitter ⚠
- p.Asn698Ser Single submitter ⚠
- p.Asn829Asp Single submitter ⚠
- p.Asn829del Single submitter
- p.Asn876Ser Single submitter ⚠
- p.Asp101Asn Single submitter ⚠
- p.Asp160Tyr Single submitter ⚠
- p.Asp176Asn Single submitter ⚠
- p.Asp176His Single submitter ⚠
- p.Asp236Glu Single submitter ⚠
- p.Asp236Gly Single submitter
- p.Asp36Val Single submitter
- p.Asp423His Single submitter ⚠
- p.Asp423Val Single submitter ⚠
- p.Asp448del Single submitter
- p.Asp458Asn Single submitter MCM2-related disorder
- p.Asp524Asn Single submitter ⚠
- p.Cys315Tyr Single submitter ⚠
- p.Cys661Phe Single submitter ⚠
- p.Gln153Glu Single submitter ⚠
- p.Gln16His Single submitter ⚠
- p.Gln257His Single submitter ⚠
- p.Gln379Arg Single submitter ⚠
- p.Gln549Arg Single submitter ⚠
- p.Gln871His Single submitter
- p.Gln903His Single submitter ⚠
- p.Glu104Gln Single submitter ⚠
- p.Glu141Asp Single submitter ⚠
- p.Glu144Lys Single submitter ⚠
- p.Glu162Lys Single submitter ⚠
- p.Glu165Lys Single submitter ⚠
- p.Glu254Asp Single submitter ⚠
- p.Glu411Lys Single submitter autosomal dominant nonsyndromic hearing loss 70 ⚠
- p.Glu54Lys Single submitter ⚠
- p.Glu673Lys Single submitter ⚠
- p.Glu694Lys Single submitter ⚠
- p.Glu71Asp Single submitter ⚠
- p.Glu788Lys Single submitter ⚠
- p.Glu86Gln Single submitter ⚠
- p.Glu93Lys Single submitter autosomal dominant nonsyndromic hearing loss 70 ⚠
- p.Gly310Arg Single submitter ⚠
- p.Gly474Arg Single submitter ⚠
- p.Gly494Val Single submitter ⚠
- p.Gly61Val Single submitter ⚠
- p.Gly699Cys Single submitter ⚠
- p.Gly74Arg Single submitter
- p.His212Tyr Single submitter ⚠
- p.His893Arg Single submitter ⚠
- p.Ile412Arg Single submitter ⚠
- p.Ile417Val Single submitter ⚠
- p.Ile464Ser Single submitter ⚠
- p.Ile473Phe Single submitter ⚠
- p.Ile803Thr Single submitter
- p.Ile835Leu Single submitter ⚠
- p.Leu499Val Single submitter ⚠
- p.Leu715Pro Single submitter ⚠
- p.Leu885Gln Single submitter
- p.Lys150Glu Single submitter ⚠
- p.Lys492Arg Single submitter ⚠
- p.Lys691del Single submitter
- p.Lys691Glu Single submitter ⚠
- p.Lys898Arg Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met365Val Single submitter ⚠
- p.Met463Ile Single submitter ⚠
- p.Met604Val Single submitter ⚠
- p.Met77Ile Single submitter ⚠
- p.Phe215Leu Single submitter ⚠
- p.Phe500Leu Single submitter ⚠
- p.Pro191His Single submitter ⚠
- p.Pro191Ser Single submitter ⚠
- p.Pro23Leu Single submitter ⚠
- p.Pro338Ser Single submitter ⚠
- p.Pro483Ser Single submitter autosomal dominant nonsyndromic hearing loss 70 ⚠
- p.Ser13Arg Single submitter ⚠
- p.Ser381Gly Single submitter ⚠
- p.Ser405Gly Single submitter ⚠
- p.Ser530Leu Single submitter ⚠
- p.Ser640Leu Single submitter ⚠
- p.Ser769Cys Single submitter ⚠
- p.Ser809Arg Single submitter ⚠
- p.Ser813Arg Single submitter ⚠
- p.Ser878fs Single submitter
- p.Thr205Ile Single submitter ⚠
- p.Thr35Ile Single submitter ⚠
- p.Thr39Pro Single submitter ⚠
- p.Thr457Ile Single submitter ⚠
- p.Thr465Ala Single submitter ⚠
- p.Thr557Met Single submitter ⚠
- p.Thr625Met Single submitter ⚠
- p.Thr709Met Single submitter ⚠
- p.Tyr137= Single submitter
- p.Tyr271His Single submitter ⚠
- p.Tyr370Cys Single submitter ⚠
- p.Tyr486Cys Single submitter ⚠
- p.Val102Ile Single submitter ⚠
- p.Val186Ala Single submitter ⚠
- p.Val214Ile Single submitter ⚠
- p.Val243Ala Single submitter ⚠
- p.Val385Met Single submitter ⚠
- p.Val403Met Single submitter ⚠
- p.Val434Leu Single submitter ⚠
- p.Val444Leu Single submitter ⚠
- p.Val444Met Single submitter ⚠
- p.Val453Ile Single submitter ⚠
- p.Val617Ile Single submitter ⚠
- p.Val679Met Single submitter ⚠
- p.Val680Glu Single submitter ⚠
- p.Val684Ile Single submitter ⚠
- p.Val712Met Single submitter ⚠
- p.Ala189Val No assertion criteria MCM2-related disorder ⚠
- p.Arg132His No assertion criteria MCM2-related disorder ⚠