MCM5 — 469 ClinVar variants
All ClinVar germline MCM5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →
1 Pathogenic · 2 Conflicting · 18 Benign · 7 Benign/Likely benign · 161 Likely benign · 280 Uncertain significance
Full MCM5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 239
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 152
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 152
- MCM5 p.Ala160Val Uncertain significance Multiple submitters
- MCM5 p.Ala543Thr Uncertain significance Multiple submitters
- MCM5 p.Ala620Thr Uncertain significance Multiple submitters
- MCM5 p.Arg138His Uncertain significance Multiple submitters
- MCM5 p.Arg167His Uncertain significance Multiple submitters
- MCM5 p.Arg282His Uncertain significance Multiple submitters
- MCM5 p.Arg425Trp Uncertain significance Multiple submitters
- MCM5 p.Arg494Cys Uncertain significance Multiple submitters
- MCM5 p.Arg573Trp Uncertain significance Multiple submitters
- MCM5 p.Asn64His Uncertain significance Multiple submitters
- MCM5 p.Asp374Gly Uncertain significance Multiple submitters
- MCM5 p.Glu321Asp Uncertain significance Multiple submitters
- MCM5 p.Glu676Gly Uncertain significance Multiple submitters
- MCM5 p.Gly500Trp Uncertain significance Multiple submitters
- MCM5 p.His238Tyr Uncertain significance Multiple submitters
- MCM5 p.His709Arg Uncertain significance Multiple submitters
- MCM5 p.Ile400Val Uncertain significance Multiple submitters
- MCM5 p.Lys28Thr Uncertain significance Multiple submitters
- MCM5 p.Lys680Glu Uncertain significance Multiple submitters
- MCM5 p.Phe274Leu Uncertain significance Multiple submitters
- MCM5 p.Phe358Ser Uncertain significance Multiple submitters
- MCM5 p.Pro341Ser Uncertain significance Multiple submitters
- MCM5 p.Pro422Ala Uncertain significance Multiple submitters
- MCM5 p.Ser136Thr Uncertain significance Multiple submitters
-
MCM5 p.Thr277Asn
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 8
- MCM5 p.Val222Met Uncertain significance Multiple submitters
- MCM5 p.Val257Phe Uncertain significance Multiple submitters
- MCM5 p.Val484Ile Uncertain significance Multiple submitters
- MCM5 p.Val541Met Uncertain significance Multiple submitters
- MCM5 p.Ala102Pro Uncertain significance Single submitter
- MCM5 p.Ala102Val Uncertain significance Single submitter
- MCM5 p.Ala132Thr Uncertain significance Single submitter
- MCM5 p.Ala157Thr Uncertain significance Single submitter
- MCM5 p.Ala157Val Uncertain significance Single submitter
- MCM5 p.Ala163Thr Uncertain significance Single submitter
- MCM5 p.Ala192Thr Uncertain significance Single submitter
- MCM5 p.Ala21Val Uncertain significance Single submitter
- MCM5 p.Ala340Thr Uncertain significance Single submitter
- MCM5 p.Ala433Gly Uncertain significance Single submitter
- MCM5 p.Ala433Thr Uncertain significance Single submitter
- MCM5 p.Ala533Ser Uncertain significance Single submitter
- MCM5 p.Ala557Gly Uncertain significance Single submitter
- MCM5 p.Ala651Val Uncertain significance Single submitter
- MCM5 p.Arg112Trp Uncertain significance Single submitter
- MCM5 p.Arg138Cys Uncertain significance Single submitter
- MCM5 p.Arg185His Uncertain significance Single submitter
- MCM5 p.Arg204His Uncertain significance Single submitter
- MCM5 p.Arg295Cys Uncertain significance Single submitter
- MCM5 p.Arg324His Uncertain significance Single submitter
- MCM5 p.Arg362Gln Uncertain significance Single submitter
- MCM5 p.Arg420Thr Uncertain significance Single submitter
- MCM5 p.Arg43Leu Uncertain significance Single submitter
- MCM5 p.Arg455Cys Uncertain significance Single submitter
- MCM5 p.Arg455Leu Uncertain significance Single submitter
- MCM5 p.Arg455Ser Uncertain significance Single submitter
- MCM5 p.Arg481Cys Uncertain significance Single submitter
- MCM5 p.Arg567Leu Uncertain significance Single submitter
- MCM5 p.Arg590Gln Uncertain significance Single submitter
- MCM5 p.Arg590Leu Uncertain significance Single submitter
- MCM5 p.Arg602His Uncertain significance Single submitter
- MCM5 p.Arg611Trp Uncertain significance Single submitter
- MCM5 p.Arg642Leu Uncertain significance Single submitter
- MCM5 p.Arg682Cys Uncertain significance Single submitter
- MCM5 p.Arg682His Uncertain significance Single submitter
- MCM5 p.Arg717Gln Uncertain significance Single submitter
- MCM5 p.Arg727Leu Uncertain significance Single submitter
- MCM5 p.Arg732Cys Uncertain significance Single submitter
- MCM5 p.Arg732His Uncertain significance Single submitter
- MCM5 p.Asn177His Uncertain significance Single submitter
- MCM5 p.Asn376His Uncertain significance Single submitter
- MCM5 p.Asp123Tyr Uncertain significance Single submitter
- MCM5 p.Asp223Gly Uncertain significance Single submitter
- MCM5 p.Asp255Val Uncertain significance Single submitter
- MCM5 p.Asp304Gly Uncertain significance Single submitter
- MCM5 p.Asp348Val Uncertain significance Single submitter
- MCM5 p.Asp515Asn Uncertain significance Single submitter
- MCM5 p.Asp601Asn Uncertain significance Single submitter
- MCM5 p.Asp76Val Uncertain significance Single submitter
- MCM5 p.Asp86Asn Uncertain significance Single submitter
- MCM5 p.Cys219Trp Uncertain significance Single submitter
- MCM5 p.Cys221Trp Uncertain significance Single submitter
- MCM5 p.Cys443Arg Uncertain significance Single submitter
- MCM5 p.Gln225Arg Uncertain significance Single submitter
- MCM5 p.Gln225His Uncertain significance Single submitter
- MCM5 p.Gln246Glu Uncertain significance Single submitter
- MCM5 p.Gln688His Uncertain significance Single submitter
- MCM5 p.Glu577Ala Uncertain significance Single submitter
- MCM5 p.Glu634Val Uncertain significance Single submitter
- MCM5 p.Glu67Asp Uncertain significance Single submitter
- MCM5 p.Glu720Asp Uncertain significance Single submitter
- MCM5 p.Gly17Asp Uncertain significance Single submitter
- MCM5 p.Gly239Arg Uncertain significance Single submitter
- MCM5 p.Gly281Ser Uncertain significance Single submitter
- MCM5 p.Gly298Val Uncertain significance Single submitter
- MCM5 p.Gly345Arg Uncertain significance Single submitter
- MCM5 p.Gly659Glu Uncertain significance Single submitter
- MCM5 p.Ile168Val Uncertain significance Single submitter
- MCM5 p.Ile182Val Uncertain significance Single submitter
- MCM5 p.Ile214Phe Uncertain significance Single submitter
- MCM5 p.Ile343Leu Uncertain significance Single submitter
- MCM5 p.Ile353Val Uncertain significance Single submitter
- MCM5 p.Ile537Val Uncertain significance Single submitter
- MCM5 p.Ile685Val Uncertain significance Single submitter
- MCM5 p.Ile695Val Uncertain significance Single submitter
- MCM5 p.Ile9Val Uncertain significance Single submitter
- MCM5 p.Leu378Gln Uncertain significance Single submitter
- MCM5 p.Leu39Arg Uncertain significance Single submitter
- MCM5 p.Leu556Val Uncertain significance Single submitter
- MCM5 p.Leu714Phe Uncertain significance Single submitter
- MCM5 p.Leu84Pro Uncertain significance Single submitter
- MCM5 p.Lys129Arg Uncertain significance Single submitter
- MCM5 p.Lys256Arg Uncertain significance Single submitter
- MCM5 p.Lys396Thr Uncertain significance Single submitter
- MCM5 p.Lys558Asn Uncertain significance Single submitter
- MCM5 p.Lys627Arg Uncertain significance Single submitter
- MCM5 p.Lys680Arg Uncertain significance Single submitter
- MCM5 p.Met127Val Uncertain significance Single submitter
- MCM5 p.Met144Leu Uncertain significance Single submitter
- MCM5 p.Met144Val Uncertain significance Single submitter
- MCM5 p.Met184Val Uncertain significance Single submitter
- MCM5 p.Met245Leu Uncertain significance Single submitter
- MCM5 p.Met419Thr Uncertain significance Single submitter
- MCM5 p.Met589Thr Uncertain significance Single submitter
- MCM5 p.Met671Ile Uncertain significance Single submitter
- MCM5 p.Met715Thr Uncertain significance Single submitter
- MCM5 p.Pro152Ser Uncertain significance Single submitter
- MCM5 p.Pro211Arg Uncertain significance Single submitter
- MCM5 p.Pro211Leu Uncertain significance Single submitter
- MCM5 p.Pro237Leu Uncertain significance Single submitter
- MCM5 p.Pro259Leu Uncertain significance Single submitter
- MCM5 p.Pro422Thr Uncertain significance Single submitter
- MCM5 p.Pro572Leu Uncertain significance Single submitter
- MCM5 p.Ser116Phe Uncertain significance Single submitter
- MCM5 p.Ser136Cys Uncertain significance Single submitter
- MCM5 p.Ser291Gly Uncertain significance Single submitter
- MCM5 p.Ser292Ala Uncertain significance Single submitter
- MCM5 p.Ser338Asn Uncertain significance Single submitter
- MCM5 p.Ser417Leu Uncertain significance Single submitter
- MCM5 p.Ser490Leu Uncertain significance Single submitter
- MCM5 p.Ser512Leu Uncertain significance Single submitter
- MCM5 p.Ser575Pro Uncertain significance Single submitter
- MCM5 p.Ser658Thr Uncertain significance Single submitter
- MCM5 p.Thr303Ile Uncertain significance Single submitter
- MCM5 p.Thr370Asn Uncertain significance Single submitter
- MCM5 p.Thr404Met Uncertain significance Single submitter
- MCM5 p.Thr52Ile Uncertain significance Single submitter
- MCM5 p.Thr538Ser Uncertain significance Single submitter
- MCM5 p.Thr648Met Uncertain significance Single submitter
- MCM5 p.Trp495Cys Uncertain significance Single submitter
- MCM5 p.Val285Met Uncertain significance Single submitter
Predictors split 86
The independent predictors disagree with each other — read with care.
- MCM5 p.Ala327Val Uncertain significance Multiple submitters
- MCM5 p.Arg167Cys Uncertain significance Multiple submitters
- MCM5 p.Arg176Cys Uncertain significance Multiple submitters
- MCM5 p.Arg282Cys Uncertain significance Multiple submitters
- MCM5 p.Arg323His Uncertain significance Multiple submitters
- MCM5 p.Arg324Cys Uncertain significance Multiple submitters
- MCM5 p.Arg585Cys Uncertain significance Multiple submitters
- MCM5 p.Arg603His Uncertain significance Multiple submitters
- MCM5 p.Arg681Cys Uncertain significance Multiple submitters
- MCM5 p.Arg727Gly Uncertain significance Multiple submitters
- MCM5 p.Asp13Gly Uncertain significance Multiple submitters
- MCM5 p.Gly493Ser Uncertain significance Multiple submitters
- MCM5 p.Ile265Met Uncertain significance Multiple submitters
- MCM5 p.Ile469Val Likely benign Multiple submitters
- MCM5 p.Phe51Leu Uncertain significance Multiple submitters
- MCM5 p.Pro704Ser Uncertain significance Multiple submitters
- MCM5 p.Val491Ala Uncertain significance Multiple submitters
- MCM5 p.Val610Met Uncertain significance Multiple submitters
- MCM5 p.Val660Gly Uncertain significance Multiple submitters
- MCM5 p.Ala326Thr Uncertain significance Single submitter
- MCM5 p.Ala354Thr Uncertain significance Single submitter
- MCM5 p.Ala354Val Uncertain significance Single submitter
- MCM5 p.Ala470Thr Uncertain significance Single submitter
- MCM5 p.Arg114Trp Uncertain significance Single submitter
- MCM5 p.Arg162Cys Uncertain significance Single submitter
- MCM5 p.Arg162His Uncertain significance Single submitter
- MCM5 p.Arg173His Uncertain significance Single submitter
- MCM5 p.Arg185Cys Uncertain significance Single submitter
- MCM5 p.Arg185Ser Uncertain significance Single submitter
- MCM5 p.Arg204Cys Uncertain significance Single submitter
- MCM5 p.Arg27Gly Uncertain significance Single submitter
- MCM5 p.Arg290Gln Uncertain significance Single submitter
- MCM5 p.Arg308Cys Uncertain significance Single submitter
- MCM5 p.Arg323Cys Uncertain significance Single submitter
- MCM5 p.Arg371Cys Uncertain significance Single submitter
- MCM5 p.Arg371His Uncertain significance Single submitter
- MCM5 p.Arg451Gln Uncertain significance Single submitter
- MCM5 p.Arg594Gly Uncertain significance Single submitter
- MCM5 p.Arg594His Uncertain significance Single submitter
- MCM5 p.Arg602Cys Uncertain significance Single submitter
- MCM5 p.Arg603Cys Uncertain significance Single submitter
- MCM5 p.Arg674Cys Uncertain significance Single submitter
- MCM5 p.Arg674His Uncertain significance Single submitter
- MCM5 p.Arg727Cys Uncertain significance Single submitter
- MCM5 p.Asp250Asn Uncertain significance Single submitter
- MCM5 p.Asp438Asn Uncertain significance Single submitter
- MCM5 p.Asp453Tyr Uncertain significance Single submitter
- MCM5 p.Asp599Gly Uncertain significance Single submitter
- MCM5 p.Asp5Asn Uncertain significance Single submitter
- MCM5 p.Asp81Glu Uncertain significance Single submitter
- MCM5 p.Gln125His Likely benign Single submitter
- MCM5 p.Gln91Pro Uncertain significance Single submitter
- MCM5 p.Glu189Gln Uncertain significance Single submitter
- MCM5 p.Glu189Lys Uncertain significance Single submitter
- MCM5 p.Glu321Lys Uncertain significance Single submitter
- MCM5 p.Glu577Lys Uncertain significance Single submitter
- MCM5 p.Glu638Lys Uncertain significance Single submitter
- MCM5 p.Glu705Lys Uncertain significance Single submitter
- MCM5 p.Gly431Ser Uncertain significance Single submitter
- MCM5 p.Gly500Arg Uncertain significance Single submitter
- MCM5 p.Ile294Ser Uncertain significance Single submitter
- MCM5 p.Leu328Phe Uncertain significance Single submitter
- MCM5 p.Leu716Pro Uncertain significance Single submitter
- MCM5 p.Leu733Phe Uncertain significance Single submitter
- MCM5 p.Lys196Asn Uncertain significance Single submitter
- MCM5 p.Lys396Glu Uncertain significance Single submitter
- MCM5 p.Met507Thr Uncertain significance Single submitter
- MCM5 p.Met516Val Uncertain significance Single submitter
- MCM5 p.Phe224Leu Uncertain significance Single submitter
- MCM5 p.Phe224Ser Uncertain significance Single submitter
- MCM5 p.Pro152Leu Uncertain significance Single submitter
- MCM5 p.Pro366Ser Uncertain significance Single submitter
- MCM5 p.Pro704Leu Uncertain significance Single submitter
- MCM5 p.Ser116Cys Uncertain significance Single submitter
- MCM5 p.Ser130Leu Uncertain significance Single submitter
- MCM5 p.Ser146Leu Uncertain significance Single submitter
- MCM5 p.Ser79Arg Uncertain significance Single submitter
- MCM5 p.Thr178Asn Uncertain significance Single submitter
- MCM5 p.Thr178Ser Uncertain significance Single submitter
- MCM5 p.Thr475Ser Uncertain significance Single submitter
- MCM5 p.Thr476Ser Uncertain significance Single submitter
- MCM5 p.Val106Ala Conflicting Single submitter
- MCM5 p.Val106Leu Uncertain significance Single submitter
- MCM5 p.Val149Leu Uncertain significance Single submitter
- MCM5 p.Val402Leu Uncertain significance Single submitter
- MCM5 p.Val72Met Uncertain significance Single submitter
All MCM5 variants
Pathogenic 1
- p.Thr466Ile No assertion criteria Meier-Gorlin syndrome 8
Conflicting classifications of pathogenicity 2
- p.Val106Ala Single submitter ⚠
- p.Val711Ala Single submitter ⚠
Benign 18
- c.167+7C>T Multiple submitters
- c.1832+10C>T Multiple submitters
- c.423+7C>T Multiple submitters Meier-Gorlin syndrome 8
- p.Leu188= Multiple submitters
- p.Lys569= Multiple submitters
- p.Ser693= Multiple submitters
- p.Thr180Ser Multiple submitters
- p.Thr277= Multiple submitters
- p.Thr538= Multiple submitters
- c.1414-16G>A Single submitter
- c.168-15A>G Single submitter
- c.1975+18C>A Single submitter
- p.Arg176= Single submitter
- p.Arg176His Single submitter
- p.Gln548= Single submitter
- p.Ile339= Single submitter
- p.Thr199Ile Single submitter
- p.Thr226= Single submitter
Benign/Likely benign 7
- c.294+19C>A Multiple submitters
- c.920-19G>A Multiple submitters
- p.Arg112Gln Multiple submitters
- p.Ile156= Multiple submitters
- p.Ser673= Multiple submitters
- p.Val258Ile Multiple submitters
- p.Val334= Multiple submitters
Likely benign 161
- p.Ala437= Multiple submitters
- p.Ile469Val Multiple submitters ⚠
- p.Leu325= Multiple submitters
- p.Leu356= Multiple submitters
- p.Leu679= Multiple submitters
- p.Lys129Asn Multiple submitters
- p.Lys164= Multiple submitters
- p.Phe631= Multiple submitters
- p.Ser423= Multiple submitters
- p.Ser424= Multiple submitters
- p.Val257= Multiple submitters
- c.1091+18C>G Single submitter
- c.1091+18C>T Single submitter
- c.1092-10C>T Single submitter
- c.1092-7C>T Single submitter
- c.1092-9G>A Single submitter
- c.1204-10A>T Single submitter
- c.1204-11C>T Single submitter
- c.1347+18G>T Single submitter
- c.1348-7C>T Single submitter
- c.1413+15A>G Single submitter
- c.1413+9C>T Single submitter
- c.1414-10C>T Single submitter
- c.1414-4T>C Single submitter
- c.1414-9G>A Single submitter
- c.1414-9G>T Single submitter
- c.1591-17del Single submitter
- c.167+10C>T Single submitter
- c.167+16G>T Single submitter
- c.167+19C>T Single submitter
- c.167+8T>C Single submitter
- c.167+9C>T Single submitter
- c.168-14T>C Single submitter
- c.1703+13C>T Single submitter
- c.1703+16A>C Single submitter
- c.1703+17G>A Single submitter
- c.1704-4G>T Single submitter
- c.1832+14C>G Single submitter
- c.1832+15A>G Single submitter
- c.1833-13G>C Single submitter
- c.1833-16G>A Single submitter
- c.1833-17C>T Single submitter
- c.1975+13A>C Single submitter
- c.1975+15G>A Single submitter
- c.1975+17G>T Single submitter
- c.1975+20A>G Single submitter
- c.1975+8G>A Single submitter
- c.1976-14C>T Single submitter
- c.1976-4A>T Single submitter
- c.2103+10C>T Single submitter
- c.2103+8_2103+31del Single submitter
- c.2104-15C>T Single submitter
- c.294+7G>A Single submitter
- c.295-10C>T Single submitter
- c.295-17C>T Single submitter
- c.423+8G>A Single submitter
- c.423+9G>A Single submitter
- c.424-16G>A Single submitter
- c.424-7A>G Single submitter
- c.596+10_596+11del Single submitter
- c.596+7C>A Single submitter
- c.597-18_597-17del Single submitter
- c.597-8T>C Single submitter
- c.752+11C>G Single submitter
- c.752+11C>T Single submitter
- c.753-15C>G Single submitter
- c.753-5C>T Single submitter
- c.919+11T>C Single submitter
- c.919+16G>T Single submitter
- c.919+17G>A Single submitter
- c.920-10G>A Single submitter
- c.920-11del Single submitter
- c.920-20C>T Single submitter
- p.Ala157= Single submitter
- p.Ala21= Single submitter
- p.Ala340= Single submitter
- p.Ala461= Single submitter
- p.Ala543= Single submitter
- p.Ala549= Single submitter
- p.Ala576= Single submitter
- p.Ala593= Single submitter
- p.Ala640= Single submitter
- p.Ala85= Single submitter
- p.Asp13= Single submitter
- p.Asp131= Single submitter
- p.Asp47= Single submitter
- p.Asp650= Single submitter
- p.Cys249= Single submitter
- p.Gln125His Single submitter ⚠
- p.Gln548Leu Single submitter
- p.Gln645= Single submitter
- p.Glu109= Single submitter
- p.Glu37= Single submitter
- p.Glu551= Single submitter
- p.Gly286= Single submitter
- p.Gly305= Single submitter
- p.Gly408= Single submitter
- p.Gly431= Single submitter
- p.Gly552= Single submitter
- p.Gly571= Single submitter
- p.Gly66= Single submitter
- p.Gly719= Single submitter
- p.His147= Single submitter
- p.His238= Single submitter
- p.His459= Single submitter
- p.His524= Single submitter
- p.His540= Single submitter
- p.His596= Single submitter
- p.His95= Single submitter
- p.Ile155= Single submitter
- p.Ile289= Single submitter
- p.Ile469= Single submitter
- p.Ile519= Single submitter
- p.Leu209= Single submitter
- p.Leu511= Single submitter
- p.Leu641= Single submitter
- p.Leu712= Single submitter
- p.Leu714= Single submitter
- p.Leu730= Single submitter
- p.Leu733= Single submitter
- p.Lys396= Single submitter
- p.Lys407= Single submitter
- p.Phe213= Single submitter
- p.Phe344= Single submitter
- p.Phe492= Single submitter
- p.Phe514= Single submitter
- p.Phe644= Single submitter
- p.Phe698= Single submitter
- p.Pro211= Single submitter
- p.Pro216= Single submitter
- p.Pro508= Single submitter
- p.Pro630= Single submitter
- p.Ser12= Single submitter
- p.Ser133= Single submitter
- p.Ser139= Single submitter
- p.Ser14= Single submitter
- p.Ser142= Single submitter
- p.Ser2= Single submitter
- p.Ser279= Single submitter
- p.Ser29= Single submitter
- p.Ser410= Single submitter
- p.Ser417= Single submitter
- p.Ser483= Single submitter
- p.Ser512= Single submitter
- p.Ser542Arg Single submitter
- p.Ser591= Single submitter
- p.Ser654= Single submitter
- p.Ser665= Single submitter
- p.Thr404= Single submitter
- p.Thr498= Single submitter
- p.Thr648= Single submitter
- p.Tyr252= Single submitter
- p.Tyr586= Single submitter
- p.Tyr68= Single submitter
- p.Tyr703= Single submitter
- p.Tyr89= Single submitter
- p.Val149= Single submitter
- p.Val161= Single submitter
- p.Val402= Single submitter
- p.Val441= Single submitter
- c.*8C>T No assertion criteria MCM5-related disorder
Uncertain significance 280
- p.Ala160Val Multiple submitters ⚠
- p.Ala327Val Multiple submitters ⚠
- p.Ala543Thr Multiple submitters ⚠
- p.Ala620Thr Multiple submitters ⚠
- p.Arg138His Multiple submitters ⚠
- p.Arg167Cys Multiple submitters ⚠
- p.Arg167His Multiple submitters ⚠
- p.Arg176Cys Multiple submitters ⚠
- p.Arg282Cys Multiple submitters ⚠
- p.Arg282His Multiple submitters ⚠
- p.Arg323His Multiple submitters ⚠
- p.Arg324Cys Multiple submitters ⚠
- p.Arg425Trp Multiple submitters ⚠
- p.Arg494Cys Multiple submitters ⚠
- p.Arg567Gln Multiple submitters
- p.Arg573Trp Multiple submitters ⚠
- p.Arg585Cys Multiple submitters ⚠
- p.Arg603His Multiple submitters ⚠
- p.Arg642Gln Multiple submitters
- p.Arg681Cys Multiple submitters ⚠
- p.Arg727Gly Multiple submitters ⚠
- p.Asn64His Multiple submitters ⚠
- p.Asp13Gly Multiple submitters ⚠
- p.Asp374Gly Multiple submitters ⚠
- p.Glu321Asp Multiple submitters ⚠
- p.Glu676Gly Multiple submitters ⚠
- p.Gly493Ser Multiple submitters ⚠
- p.Gly500Trp Multiple submitters ⚠
- p.Gly592Arg Multiple submitters
- p.Gly655Ser Multiple submitters
- p.His238Tyr Multiple submitters ⚠
- p.His709Arg Multiple submitters ⚠
- p.Ile265Met Multiple submitters ⚠
- p.Ile400Val Multiple submitters ⚠
- p.Lys28Thr Multiple submitters ⚠
- p.Lys680Glu Multiple submitters ⚠
- p.Phe274Leu Multiple submitters ⚠
- p.Phe358Ser Multiple submitters ⚠
- p.Phe51Leu Multiple submitters ⚠
- p.Pro186Ser Multiple submitters
- p.Pro341Ser Multiple submitters ⚠
- p.Pro422Ala Multiple submitters ⚠
- p.Pro704Ser Multiple submitters ⚠
- p.Ser136Thr Multiple submitters ⚠
- p.Thr166Ile Multiple submitters
- p.Thr277Asn Multiple submitters Meier-Gorlin syndrome 8 ⚠
- p.Val222Met Multiple submitters ⚠
- p.Val257Phe Multiple submitters ⚠
- p.Val484Ile Multiple submitters ⚠
- p.Val491Ala Multiple submitters ⚠
- p.Val541Met Multiple submitters ⚠
- p.Val610Met Multiple submitters ⚠
- p.Val660Gly Multiple submitters ⚠
- c.1091+2T>C Single submitter
- c.1091+4G>A Single submitter
- c.1092-2A>G Single submitter
- c.1092-3C>T Single submitter
- c.1590+12G>T Single submitter
- c.1590+4C>T Single submitter
- c.1590+5G>A Single submitter
- c.168-3C>T Single submitter
- c.1976-3C>A Single submitter
- c.2104-3C>T Single submitter
- c.294+6T>C Single submitter
- c.423+13G>T Single submitter
- c.596+6T>A Single submitter
- c.752+3G>A Single submitter
- c.752+5G>A Single submitter
- c.753-3C>G Single submitter
- c.919+3G>A Single submitter
- p.Ala102Pro Single submitter ⚠
- p.Ala102Val Single submitter ⚠
- p.Ala132Thr Single submitter ⚠
- p.Ala157Thr Single submitter ⚠
- p.Ala157Val Single submitter ⚠
- p.Ala163Thr Single submitter ⚠
- p.Ala192Thr Single submitter ⚠
- p.Ala21Val Single submitter ⚠
- p.Ala326Thr Single submitter ⚠
- p.Ala340Thr Single submitter ⚠
- p.Ala354Thr Single submitter ⚠
- p.Ala354Val Single submitter ⚠
- p.Ala433Gly Single submitter ⚠
- p.Ala433Thr Single submitter ⚠
- p.Ala470Thr Single submitter ⚠
- p.Ala533Ser Single submitter ⚠
- p.Ala557Gly Single submitter ⚠
- p.Ala632Thr Single submitter
- p.Ala651Val Single submitter ⚠
- p.Ala652Thr Single submitter
- p.Arg112Trp Single submitter ⚠
- p.Arg114Trp Single submitter ⚠
- p.Arg138Cys Single submitter ⚠
- p.Arg162Cys Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg185Cys Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg185Ser Single submitter ⚠
- p.Arg204Cys Single submitter ⚠
- p.Arg204His Single submitter ⚠
- p.Arg27Gly Single submitter ⚠
- p.Arg284fs Single submitter Meier-Gorlin syndrome 8
- p.Arg290Gln Single submitter ⚠
- p.Arg295Cys Single submitter ⚠
- p.Arg308Cys Single submitter ⚠
- p.Arg323Cys Single submitter ⚠
- p.Arg324His Single submitter ⚠
- p.Arg362Gln Single submitter ⚠
- p.Arg371Cys Single submitter ⚠
- p.Arg371His Single submitter ⚠
- p.Arg420Thr Single submitter ⚠
- p.Arg425Gln Single submitter
- p.Arg43Leu Single submitter ⚠
- p.Arg451Gln Single submitter ⚠
- p.Arg455Cys Single submitter ⚠
- p.Arg455Leu Single submitter ⚠
- p.Arg455Ser Single submitter ⚠
- p.Arg481Cys Single submitter ⚠
- p.Arg567Leu Single submitter ⚠
- p.Arg585Ter Single submitter
- p.Arg590Gln Single submitter ⚠
- p.Arg590Leu Single submitter ⚠
- p.Arg594Gly Single submitter ⚠
- p.Arg594His Single submitter ⚠
- p.Arg602Cys Single submitter ⚠
- p.Arg602His Single submitter ⚠
- p.Arg603Cys Single submitter ⚠
- p.Arg611Trp Single submitter ⚠
- p.Arg61Trp Single submitter
- p.Arg642Leu Single submitter ⚠
- p.Arg674Cys Single submitter ⚠
- p.Arg674His Single submitter ⚠
- p.Arg682Cys Single submitter ⚠
- p.Arg682His Single submitter ⚠
- p.Arg717Gln Single submitter ⚠
- p.Arg727Cys Single submitter ⚠
- p.Arg727Leu Single submitter ⚠
- p.Arg732Cys Single submitter ⚠
- p.Arg732His Single submitter ⚠
- p.Asn177His Single submitter ⚠
- p.Asn376His Single submitter ⚠
- p.Asp123Tyr Single submitter ⚠
- p.Asp223Gly Single submitter ⚠
- p.Asp234Gly Single submitter
- p.Asp250Asn Single submitter ⚠
- p.Asp255Val Single submitter ⚠
- p.Asp304Gly Single submitter ⚠
- p.Asp348Val Single submitter ⚠
- p.Asp438Asn Single submitter ⚠
- p.Asp453Tyr Single submitter ⚠
- p.Asp515Asn Single submitter ⚠
- p.Asp599Gly Single submitter ⚠
- p.Asp5Asn Single submitter ⚠
- p.Asp601Asn Single submitter ⚠
- p.Asp76Val Single submitter ⚠
- p.Asp81Glu Single submitter ⚠
- p.Asp86Asn Single submitter ⚠
- p.Cys219Trp Single submitter ⚠
- p.Cys221Trp Single submitter ⚠
- p.Cys355Ser Single submitter
- p.Cys443Arg Single submitter ⚠
- p.Gln225Arg Single submitter ⚠
- p.Gln225His Single submitter ⚠
- p.Gln246Glu Single submitter ⚠
- p.Gln688His Single submitter ⚠
- p.Gln91Pro Single submitter ⚠
- p.Glu189Gln Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu321Lys Single submitter ⚠
- p.Glu553Lys Single submitter
- p.Glu577Ala Single submitter ⚠
- p.Glu577Lys Single submitter ⚠
- p.Glu634Val Single submitter ⚠
- p.Glu638Lys Single submitter ⚠
- p.Glu67Asp Single submitter ⚠
- p.Glu705Lys Single submitter ⚠
- p.Glu720Asp Single submitter ⚠
- p.Gly16Trp Single submitter
- p.Gly17Asp Single submitter ⚠
- p.Gly239Arg Single submitter ⚠
- p.Gly281Ser Single submitter ⚠
- p.Gly286Val Single submitter
- p.Gly298Val Single submitter ⚠
- p.Gly345Arg Single submitter ⚠
- p.Gly431Ser Single submitter ⚠
- p.Gly45del Single submitter
- p.Gly500Arg Single submitter ⚠
- p.Gly659Glu Single submitter ⚠
- p.Gly662Asp Single submitter
- p.Ile168Val Single submitter ⚠
- p.Ile182Val Single submitter ⚠
- p.Ile214Phe Single submitter ⚠
- p.Ile294Ser Single submitter ⚠
- p.Ile343Leu Single submitter ⚠
- p.Ile353Thr Single submitter
- p.Ile353Val Single submitter ⚠
- p.Ile400Met Single submitter
- p.Ile400Thr Single submitter
- p.Ile537Val Single submitter ⚠
- p.Ile685Val Single submitter ⚠
- p.Ile695Val Single submitter ⚠
- p.Ile9Val Single submitter ⚠
- p.Leu328Phe Single submitter ⚠
- p.Leu378Gln Single submitter ⚠
- p.Leu39Arg Single submitter ⚠
- p.Leu556Val Single submitter ⚠
- p.Leu714Phe Single submitter ⚠
- p.Leu716Pro Single submitter ⚠
- p.Leu733Phe Single submitter ⚠
- p.Leu84Pro Single submitter ⚠
- p.Lys129Arg Single submitter ⚠
- p.Lys150Ter Single submitter
- p.Lys196Asn Single submitter ⚠
- p.Lys256Arg Single submitter ⚠
- p.Lys396Glu Single submitter ⚠
- p.Lys396Thr Single submitter ⚠
- p.Lys558Asn Single submitter ⚠
- p.Lys627Arg Single submitter ⚠
- p.Lys680Arg Single submitter ⚠
- p.Lys734fs Single submitter
- p.Met127Val Single submitter ⚠
- p.Met144Leu Single submitter ⚠
- p.Met144Val Single submitter ⚠
- p.Met184Val Single submitter ⚠
- p.Met245Leu Single submitter ⚠
- p.Met419Thr Single submitter ⚠
- p.Met507Thr Single submitter ⚠
- p.Met516Val Single submitter ⚠
- p.Met589Thr Single submitter ⚠
- p.Met671Ile Single submitter ⚠
- p.Met715Thr Single submitter ⚠
- p.Phe224Leu Single submitter ⚠
- p.Phe224Ser Single submitter ⚠
- p.Pro152Leu Single submitter ⚠
- p.Pro152Ser Single submitter ⚠
- p.Pro211Arg Single submitter ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro237Leu Single submitter ⚠
- p.Pro259Leu Single submitter ⚠
- p.Pro366Ser Single submitter ⚠
- p.Pro422Thr Single submitter ⚠
- p.Pro572Leu Single submitter ⚠
- p.Pro704Leu Single submitter ⚠
- p.Ser116Cys Single submitter ⚠
- p.Ser116Phe Single submitter ⚠
- p.Ser130Leu Single submitter ⚠
- p.Ser136Cys Single submitter ⚠
- p.Ser142Ter Single submitter
- p.Ser146Leu Single submitter ⚠
- p.Ser291Gly Single submitter ⚠
- p.Ser292Ala Single submitter ⚠
- p.Ser2Leu Single submitter
- p.Ser338Asn Single submitter ⚠
- p.Ser417Leu Single submitter ⚠
- p.Ser490Leu Single submitter ⚠
- p.Ser512Leu Single submitter ⚠
- p.Ser575Pro Single submitter ⚠
- p.Ser658Thr Single submitter ⚠
- p.Ser79Arg Single submitter ⚠
- p.Thr178Asn Single submitter ⚠
- p.Thr178Ser Single submitter ⚠
- p.Thr303Ile Single submitter ⚠
- p.Thr370Asn Single submitter ⚠
- p.Thr404Met Single submitter ⚠
- p.Thr475Ser Single submitter ⚠
- p.Thr476Ser Single submitter ⚠
- p.Thr52Ile Single submitter ⚠
- p.Thr538Ser Single submitter ⚠
- p.Thr648Met Single submitter ⚠
- p.Trp495Cys Single submitter ⚠
- p.Tyr731_Ter(735_? Single submitter
- p.Val106Leu Single submitter ⚠
- p.Val149Leu Single submitter ⚠
- p.Val285Met Single submitter ⚠
- p.Val287Met Single submitter ⚠
- p.Val402Ile Single submitter ⚠
- p.Val402Leu Single submitter ⚠
- p.Val637fs Single submitter
- p.Val72Met Single submitter ⚠