ITGAM — 1075 ClinVar variants
All ClinVar germline ITGAM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 513 flagged for review →
8 Conflicting · 30 Benign · 2 Benign/Likely benign · 421 Likely benign · 614 Uncertain significance
Full ITGAM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 513
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 395
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 395
- ITGAM p.Ala31Thr Uncertain significance Multiple submitters
- ITGAM p.Ala433Val Uncertain significance Multiple submitters
- ITGAM p.Ala753Val Uncertain significance Multiple submitters
- ITGAM p.Ala943Val Uncertain significance Multiple submitters
- ITGAM p.Arg1003His Uncertain significance Multiple submitters
- ITGAM p.Arg131Trp Uncertain significance Multiple submitters
- ITGAM p.Arg224Trp Uncertain significance Multiple submitters
- ITGAM p.Arg297His Uncertain significance Multiple submitters
- ITGAM p.Arg309His Uncertain significance Multiple submitters
- ITGAM p.Arg498Lys Uncertain significance Multiple submitters
-
ITGAM p.Arg579Ser
Uncertain significance
Multiple submitters
ITGAM-related disorder
- ITGAM p.Arg662Trp Uncertain significance Multiple submitters
- ITGAM p.Arg664Gln Uncertain significance Multiple submitters
- ITGAM p.Arg664Trp Uncertain significance Multiple submitters
- ITGAM p.Arg699His Uncertain significance Multiple submitters
- ITGAM p.Arg798Gln Uncertain significance Multiple submitters
- ITGAM p.Arg985His Uncertain significance Multiple submitters
- ITGAM p.Asn210Lys Uncertain significance Multiple submitters
- ITGAM p.Asn692Ser Uncertain significance Multiple submitters
- ITGAM p.Asp310Asn Uncertain significance Multiple submitters
- ITGAM p.Cys1032Arg Uncertain significance Multiple submitters
- ITGAM p.Gln327Lys Uncertain significance Multiple submitters
- ITGAM p.Gln817Leu Uncertain significance Multiple submitters
- ITGAM p.Glu1094Lys Uncertain significance Multiple submitters
- ITGAM p.Glu637Gly Uncertain significance Multiple submitters
- ITGAM p.Glu848Asp Uncertain significance Multiple submitters
- ITGAM p.Gly1049Ser Uncertain significance Multiple submitters
- ITGAM p.Gly1145Val Uncertain significance Multiple submitters
- ITGAM p.Gly244Arg Uncertain significance Multiple submitters
- ITGAM p.Gly683Ser Uncertain significance Multiple submitters
- ITGAM p.Gly810Asp Uncertain significance Multiple submitters
- ITGAM p.Ile1066Met Uncertain significance Multiple submitters
- ITGAM p.Ile241Leu Uncertain significance Multiple submitters
- ITGAM p.Ile359Val Uncertain significance Multiple submitters
- ITGAM p.Ile453Met Uncertain significance Multiple submitters
- ITGAM p.Ile477Val Uncertain significance Multiple submitters
- ITGAM p.Ile870Val Uncertain significance Multiple submitters
- ITGAM p.Leu41His Uncertain significance Multiple submitters
- ITGAM p.Leu678Val Uncertain significance Multiple submitters
- ITGAM p.Lys170Arg Uncertain significance Multiple submitters
- ITGAM p.Lys203Glu Uncertain significance Multiple submitters
- ITGAM p.Lys247Glu Uncertain significance Multiple submitters
- ITGAM p.Lys894Glu Uncertain significance Multiple submitters
- ITGAM p.Met927Val Uncertain significance Multiple submitters
- ITGAM p.Met951Ile Uncertain significance Multiple submitters
- ITGAM p.Phe784Cys Uncertain significance Multiple submitters
- ITGAM p.Pro100Leu Uncertain significance Multiple submitters
- ITGAM p.Pro100Thr Uncertain significance Multiple submitters
- ITGAM p.Pro872Arg Uncertain significance Multiple submitters
- ITGAM p.Ser1060Thr Uncertain significance Multiple submitters
- ITGAM p.Ser1091Thr Uncertain significance Multiple submitters
- ITGAM p.Ser114Arg Uncertain significance Multiple submitters
- ITGAM p.Ser344Arg Uncertain significance Multiple submitters
- ITGAM p.Ser566Phe Uncertain significance Multiple submitters
- ITGAM p.Ser672Asn Uncertain significance Multiple submitters
- ITGAM p.Ser727Asn Uncertain significance Multiple submitters
- ITGAM p.Ser861Gly Uncertain significance Multiple submitters
- ITGAM p.Ser958Arg Uncertain significance Multiple submitters
- ITGAM p.Ser98Arg Uncertain significance Multiple submitters
- ITGAM p.Thr602Ser Uncertain significance Multiple submitters
- ITGAM p.Thr702Ile Uncertain significance Multiple submitters
- ITGAM p.Thr947Ser Uncertain significance Multiple submitters
- ITGAM p.Val284Asp Uncertain significance Multiple submitters
- ITGAM p.Val312Met Uncertain significance Multiple submitters
- ITGAM p.Val46Met Uncertain significance Multiple submitters
- ITGAM p.Val603Ile Uncertain significance Multiple submitters
- ITGAM p.Val651Ile Uncertain significance Multiple submitters
- ITGAM p.Val726Leu Uncertain significance Multiple submitters
- ITGAM p.Val85Met Uncertain significance Multiple submitters
- ITGAM p.Val934Phe Uncertain significance Multiple submitters
- ITGAM p.Ala1017Ser Uncertain significance Single submitter
- ITGAM p.Ala1017Val Uncertain significance Single submitter
- ITGAM p.Ala1025Ser Uncertain significance Single submitter
- ITGAM p.Ala104Val Uncertain significance Single submitter
- ITGAM p.Ala1125Thr Uncertain significance Single submitter
- ITGAM p.Ala1126Thr Uncertain significance Single submitter
- ITGAM p.Ala140Ser Uncertain significance Single submitter
- ITGAM p.Ala275Pro Uncertain significance Single submitter
- ITGAM p.Ala2Ser Uncertain significance Single submitter
- ITGAM p.Ala304Thr Uncertain significance Single submitter
- ITGAM p.Ala357Thr Uncertain significance Single submitter
- ITGAM p.Ala357Val Uncertain significance Single submitter
- ITGAM p.Ala407Thr Uncertain significance Single submitter
- ITGAM p.Ala409Thr Uncertain significance Single submitter
- ITGAM p.Ala433Gly Uncertain significance Single submitter
- ITGAM p.Ala501Ser Uncertain significance Single submitter
- ITGAM p.Ala539Val Uncertain significance Single submitter
- ITGAM p.Ala551Val Uncertain significance Single submitter
- ITGAM p.Ala632Ser Uncertain significance Single submitter
- ITGAM p.Ala679Ser Uncertain significance Single submitter
- ITGAM p.Ala756Gly Uncertain significance Single submitter
- ITGAM p.Ala850Thr Uncertain significance Single submitter
- ITGAM p.Ala889Thr Uncertain significance Single submitter
- ITGAM p.Arg1015Gln Uncertain significance Single submitter
- ITGAM p.Arg1015Trp Uncertain significance Single submitter
- ITGAM p.Arg1135Pro Uncertain significance Single submitter
- ITGAM p.Arg131Gln Uncertain significance Single submitter
- ITGAM p.Arg167Gln Uncertain significance Single submitter
- ITGAM p.Arg167Trp Uncertain significance Single submitter
- ITGAM p.Arg168Gln Uncertain significance Single submitter
- ITGAM p.Arg197Gln Uncertain significance Single submitter
- ITGAM p.Arg224Gln Uncertain significance Single submitter
- ITGAM p.Arg232His Uncertain significance Single submitter
- ITGAM p.Arg236Gln Uncertain significance Single submitter
- ITGAM p.Arg292His Uncertain significance Single submitter
- ITGAM p.Arg329Gln Uncertain significance Single submitter
- ITGAM p.Arg394Ser Uncertain significance Single submitter
- ITGAM p.Arg413Gln Uncertain significance Single submitter
- ITGAM p.Arg413Trp Uncertain significance Single submitter
- ITGAM p.Arg415Gln Uncertain significance Single submitter
- ITGAM p.Arg45Lys Uncertain significance Single submitter
- ITGAM p.Arg487Gln Uncertain significance Single submitter
- ITGAM p.Arg500Lys Uncertain significance Single submitter
- ITGAM p.Arg502Gln Uncertain significance Single submitter
- ITGAM p.Arg60Lys Uncertain significance Single submitter
- ITGAM p.Arg629Met Uncertain significance Single submitter
- ITGAM p.Arg652Ile Uncertain significance Single submitter
- ITGAM p.Arg662Gln Uncertain significance Single submitter
- ITGAM p.Arg666Lys Uncertain significance Single submitter
- ITGAM p.Arg684His Uncertain significance Single submitter
- ITGAM p.Arg688Cys Uncertain significance Single submitter
- ITGAM p.Arg699Cys Uncertain significance Single submitter
- ITGAM p.Arg732Ser Uncertain significance Single submitter
- ITGAM p.Arg749Gln Uncertain significance Single submitter
- ITGAM p.Arg749Pro Uncertain significance Single submitter
- ITGAM p.Arg815Gly Uncertain significance Single submitter
- ITGAM p.Arg815Lys Uncertain significance Single submitter
- ITGAM p.Arg829Gln Uncertain significance Single submitter
- ITGAM p.Arg838His Uncertain significance Single submitter
- ITGAM p.Arg838Leu Uncertain significance Single submitter
- ITGAM p.Arg841Gly Uncertain significance Single submitter
- ITGAM p.Arg909Gly Uncertain significance Single submitter
- ITGAM p.Arg909Lys Uncertain significance Single submitter
- ITGAM p.Arg949Gln Uncertain significance Single submitter
- ITGAM p.Arg963Thr Uncertain significance Single submitter
- ITGAM p.Arg976Gln Uncertain significance Single submitter
- ITGAM p.Arg976Leu Uncertain significance Single submitter
- ITGAM p.Arg976Trp Uncertain significance Single submitter
- ITGAM p.Arg985Gly Uncertain significance Single submitter
- ITGAM p.Asn129Ser Uncertain significance Single submitter
- ITGAM p.Asn18Ser Uncertain significance Single submitter
- ITGAM p.Asn208Ser Uncertain significance Single submitter
- ITGAM p.Asn210Asp Uncertain significance Single submitter
- ITGAM p.Asn240Asp Uncertain significance Single submitter
- ITGAM p.Asn414Ser Uncertain significance Single submitter
- ITGAM p.Asn445Ser Uncertain significance Single submitter
- ITGAM p.Asn469Lys Uncertain significance Single submitter
- ITGAM p.Asn627Ser Uncertain significance Single submitter
- ITGAM p.Asn639Tyr Uncertain significance Single submitter
- ITGAM p.Asn747Ser Uncertain significance Single submitter
Predictors split 112
The independent predictors disagree with each other — read with care.
- ITGAM p.Arg232Cys Uncertain significance Multiple submitters
- ITGAM p.Arg297Cys Uncertain significance Multiple submitters
- ITGAM p.Arg502Trp Uncertain significance Multiple submitters
- ITGAM p.Arg570Trp Uncertain significance Multiple submitters
- ITGAM p.Arg749Trp Uncertain significance Multiple submitters
- ITGAM p.Arg77Cys Uncertain significance Multiple submitters
- ITGAM p.Arg798Trp Uncertain significance Multiple submitters
- ITGAM p.Asn1104Lys Uncertain significance Multiple submitters
- ITGAM p.Asn747Lys Uncertain significance Multiple submitters
- ITGAM p.Gly597Glu Uncertain significance Multiple submitters
- ITGAM p.Pro920Leu Uncertain significance Multiple submitters
- ITGAM p.Ser1077Tyr Uncertain significance Multiple submitters
- ITGAM p.Tyr268Asn Uncertain significance Multiple submitters
- ITGAM p.Val1110Met Uncertain significance Multiple submitters
- ITGAM p.Val38Met Uncertain significance Multiple submitters
- ITGAM p.Val464Met Uncertain significance Multiple submitters
- ITGAM p.Val690Ala Uncertain significance Multiple submitters
- ITGAM p.Ala1070Thr Uncertain significance Single submitter
- ITGAM p.Ala228Thr Uncertain significance Single submitter
- ITGAM p.Ala249Thr Uncertain significance Single submitter
- ITGAM p.Ala334Val Uncertain significance Single submitter
- ITGAM p.Ala408Asp Uncertain significance Single submitter
- ITGAM p.Ala423Thr Uncertain significance Single submitter
- ITGAM p.Ala50Gly Uncertain significance Single submitter
- ITGAM p.Ala50Thr Uncertain significance Single submitter
- ITGAM p.Ala605Thr Uncertain significance Single submitter
- ITGAM p.Arg168Trp Uncertain significance Single submitter
- ITGAM p.Arg197Trp Likely benign Single submitter
- ITGAM p.Arg246Gln Benign Single submitter
- ITGAM p.Arg277Ile Uncertain significance Single submitter
- ITGAM p.Arg292Cys Uncertain significance Single submitter
- ITGAM p.Arg309Cys Uncertain significance Single submitter
- ITGAM p.Arg415Trp Likely benign Single submitter
- ITGAM p.Arg425Gln Uncertain significance Single submitter
- ITGAM p.Arg519Cys Uncertain significance Single submitter
- ITGAM p.Arg519His Uncertain significance Single submitter
- ITGAM p.Arg549Trp Uncertain significance Single submitter
- ITGAM p.Arg570Gln Uncertain significance Single submitter
- ITGAM p.Arg613Ser Uncertain significance Single submitter
- ITGAM p.Arg629Trp Uncertain significance Single submitter
- ITGAM p.Arg684Cys Uncertain significance Single submitter
- ITGAM p.Arg732Cys Uncertain significance Single submitter
- ITGAM p.Arg829Trp Uncertain significance Single submitter
- ITGAM p.Arg838Cys Uncertain significance Single submitter
- ITGAM p.Arg844Cys Likely benign Single submitter
- ITGAM p.Arg949Trp Uncertain significance Single submitter
- ITGAM p.Asn208Lys Uncertain significance Single submitter
- ITGAM p.Asn531Ser Benign Single submitter
- ITGAM p.Asn905Ser Uncertain significance Single submitter
- ITGAM p.Asp20Asn Uncertain significance Single submitter
- ITGAM p.Asp20Gly Uncertain significance Single submitter
- ITGAM p.Asp264Asn Uncertain significance Single submitter
- ITGAM p.Asp473Gly Uncertain significance Single submitter
- ITGAM p.Asp778Gly Uncertain significance Single submitter
- ITGAM p.Glu1002Gly Uncertain significance Single submitter
- ITGAM p.Glu1098Gly Uncertain significance Single submitter
- ITGAM p.Glu260Lys Uncertain significance Single submitter
- ITGAM p.Glu546Gly Uncertain significance Single submitter
- ITGAM p.Glu914Lys Uncertain significance Single submitter
- ITGAM p.Gly1049Cys Uncertain significance Single submitter
- ITGAM p.Gly157Ser Uncertain significance Single submitter
- ITGAM p.Gly488Arg Uncertain significance Single submitter
- ITGAM p.Gly488Glu Uncertain significance Single submitter
- ITGAM p.Gly499Trp Uncertain significance Single submitter
- ITGAM p.Gly499Val Uncertain significance Single submitter
- ITGAM p.Gly49Ala Uncertain significance Single submitter
- ITGAM p.Gly511Ala Uncertain significance Single submitter
- ITGAM p.Gly518Asp Uncertain significance Single submitter
- ITGAM p.Gly557Arg Uncertain significance Single submitter
- ITGAM p.Gly597Arg Uncertain significance Single submitter
- ITGAM p.Gly739Arg Uncertain significance Single submitter
- ITGAM p.Ile540Thr Uncertain significance Single submitter
- ITGAM p.Ile563Thr Uncertain significance Single submitter
- ITGAM p.Ile670Asn Uncertain significance Single submitter
- ITGAM p.Ile866Thr Benign Single submitter
- ITGAM p.Leu1064Arg Uncertain significance Single submitter
- ITGAM p.Leu122Phe Conflicting Single submitter
- ITGAM p.Leu461Phe Uncertain significance Single submitter
- ITGAM p.Leu598Gln Uncertain significance Single submitter
- ITGAM p.Leu714Arg Uncertain significance Single submitter
- ITGAM p.Lys1134Arg Uncertain significance Single submitter
- ITGAM p.Met1140Thr Uncertain significance Single submitter
- ITGAM p.Phe457Leu Uncertain significance Single submitter
- ITGAM p.Phe555Val Uncertain significance Single submitter
- ITGAM p.Phe626Leu Uncertain significance Single submitter
- ITGAM p.Phe879Leu Uncertain significance Single submitter
- ITGAM p.Pro1107Ser Uncertain significance Single submitter
- ITGAM p.Pro211Gln Uncertain significance Single submitter
- ITGAM p.Pro307Leu Uncertain significance Single submitter
- ITGAM p.Pro307Thr Uncertain significance Single submitter
- ITGAM p.Pro497Thr Uncertain significance Single submitter
-
ITGAM p.Pro750Ala
Uncertain significance
Single submitter
ITGAM-related disorder
- ITGAM p.Pro823Leu Uncertain significance Single submitter
- ITGAM p.Ser1112Thr Uncertain significance Single submitter
- ITGAM p.Ser293Ile Uncertain significance Single submitter
- ITGAM p.Ser468Ile Uncertain significance Single submitter
- ITGAM p.Ser736Pro Uncertain significance Single submitter
- ITGAM p.Ser827Cys Uncertain significance Single submitter
- ITGAM p.Ser935Phe Uncertain significance Single submitter
- ITGAM p.Ser991Phe Uncertain significance Single submitter
- ITGAM p.Thr229Met Uncertain significance Single submitter
- ITGAM p.Thr713Ala Uncertain significance Single submitter
- ITGAM p.Thr761Pro Uncertain significance Single submitter
- ITGAM p.Tyr1137His Uncertain significance Single submitter
- ITGAM p.Tyr268Cys Uncertain significance Single submitter
- ITGAM p.Tyr372Cys Uncertain significance Single submitter
- ITGAM p.Tyr676Cys Uncertain significance Single submitter
- ITGAM p.Val47Met Uncertain significance Single submitter
- ITGAM p.Val493Met Uncertain significance Single submitter
- ITGAM p.Val530Gly Uncertain significance Single submitter
- ITGAM p.Val609Met Uncertain significance Single submitter
- ITGAM p.Val973Glu Uncertain significance Single submitter
All ITGAM variants
Conflicting classifications of pathogenicity 8
- c.28+5A>C Single submitter
- p.Arg549Gln Single submitter ⚠
- p.Leu122Phe Single submitter ⚠
- p.Pro1099Leu Single submitter ⚠
- p.Tyr381His Single submitter ⚠
- p.Val176Met Single submitter ⚠
- p.Val82Met Single submitter ⚠
- p.Val975Ile Single submitter ⚠
Benign 30
- c.134+11T>C Multiple submitters
- c.3387+12T>C Multiple submitters
- c.559-4G>A Multiple submitters
- c.704+10C>G Multiple submitters
- p.Ala648= Multiple submitters
- p.Ala858Val Multiple submitters
- p.Arg77His Multiple submitters
- p.Leu601= Multiple submitters
- p.Met441Thr Multiple submitters
- p.Pro1146Ser Multiple submitters
- p.Pro920= Multiple submitters
- p.Thr1000Asn Multiple submitters
- p.Thr219= Multiple submitters
- p.Thr833= Multiple submitters
- c.1497+15G>T Single submitter
- c.1497+16A>C Single submitter
- c.2793-11dup Single submitter
- c.2869-17del Single submitter
- c.2977-14G>A Single submitter
- c.309+13C>T Single submitter
- c.3387+20C>G Single submitter
- p.Arg246Gln Single submitter ⚠
- p.Asn531Ser Single submitter ⚠
- p.Glu1071Asp Single submitter
- p.Ile866Thr Single submitter ⚠
- p.Phe318Tyr Single submitter
- p.Ser890= Single submitter
- p.Thr1000= Single submitter
- p.Thr227= Single submitter
- p.Thr882= Single submitter
Likely benign 421
Showing the top 300 by review status; the full set is in the sitemap.
- c.238+19G>C Multiple submitters
- c.2869-8C>T Multiple submitters
- p.Ala334= Multiple submitters
- p.Asn469= Multiple submitters
- p.Gly810= Multiple submitters
- p.Gly961= Multiple submitters
- p.Tyr483= Multiple submitters
- p.Tyr64= Multiple submitters
- p.Val173= Multiple submitters
- c.1009+12A>G Single submitter
- c.1009+20T>C Single submitter
- c.1010-10C>T Single submitter
- c.1010-11C>T Single submitter
- c.1010-9T>A Single submitter
- c.1083+11C>T Single submitter
- c.1083+9C>G Single submitter
- c.1084-11A>G Single submitter
- c.1084-18G>A Single submitter
- c.1084-19T>C Single submitter
- c.1213+13G>A Single submitter
- c.1213+14G>C Single submitter
- c.1213+18G>A Single submitter
- c.1213+7G>T Single submitter
- c.1214-11C>A Single submitter
- c.1214-11C>T Single submitter
- c.1214-12C>A Single submitter
- c.1214-17C>T Single submitter
- c.1214-6C>T Single submitter
- c.1214-7C>A Single submitter
- c.1214-9C>T Single submitter
- c.134+19G>A Single submitter
- c.135-14A>C Single submitter
- c.135-16C>T Single submitter
- c.135-17C>T Single submitter
- c.135-5C>T Single submitter
- c.1356+16G>C Single submitter
- c.1356+19G>A Single submitter
- c.1356+8C>A Single submitter
- c.1356+9G>A Single submitter
- c.1357-10T>A Single submitter
- c.1357-15T>C Single submitter
- c.1357-17G>C Single submitter
- c.1357-18C>T Single submitter
- c.1497+13G>A Single submitter
- c.1497+19T>C Single submitter
- c.1497+20G>A Single submitter
- c.1497+8G>C Single submitter
- c.1498-11G>T Single submitter
- c.1498-16T>C Single submitter
- c.1498-17C>G Single submitter
- c.1707+13C>T Single submitter
- c.1707+14A>G Single submitter
- c.1707+8C>G Single submitter
- c.1707+9T>G Single submitter
- c.1708-16T>A Single submitter
- c.1708-17C>T Single submitter
- c.1708-6C>A Single submitter
- c.1708-7C>T Single submitter
- c.1708-9T>C Single submitter
- c.1839-10G>A Single submitter
- c.1839-12G>C Single submitter
- c.1839-6C>T Single submitter
- c.1839-8C>T Single submitter
- c.2002+11G>C Single submitter
- c.2002+14G>C Single submitter
- c.2002+19G>A Single submitter
- c.2003-17C>A Single submitter
- c.2003-7C>T Single submitter
- c.2158-14C>T Single submitter
- c.2158-15C>T Single submitter
- c.2289+13T>C Single submitter
- c.2289+17G>C Single submitter
- c.2289+19T>C Single submitter
- c.2290-5A>T Single submitter
- c.2290-6T>A Single submitter
- c.2363+10C>T Single submitter
- c.2363+11T>G Single submitter
- c.2363+16T>G Single submitter
- c.2363+17C>T Single submitter
- c.2363+9C>T Single submitter
- c.2364-17TCT[2] Single submitter
- c.2364-4A>G Single submitter
- c.238+12C>T Single submitter
- c.238+16G>A Single submitter
- c.238+18C>T Single submitter
- c.238+19G>A Single submitter
- c.238+20G>A Single submitter
- c.238+20G>C Single submitter
- c.239-4G>A Single submitter
- c.239-8C>T Single submitter
- c.2505+13T>C Single submitter
- c.2505+8C>T Single submitter
- c.2506-14C>A Single submitter
- c.2506-16C>A Single submitter
- c.2506-8C>A Single submitter
- c.2628+10C>T Single submitter
- c.2628+11C>T Single submitter
- c.2628+13G>C Single submitter
- c.2628+14G>T Single submitter
- c.2629-10C>G Single submitter
- c.2629-10C>T Single submitter
- c.2629-16C>G Single submitter
- c.2629-16C>T Single submitter
- c.2629-19C>T Single submitter
- c.2629-4C>T Single submitter
- c.2629-5T>C Single submitter
- c.2629-7A>G Single submitter
- c.2708+9T>A Single submitter
- c.2709-16_2709-15del Single submitter
- c.2709-7C>T Single submitter
- c.2709-8C>T Single submitter
- c.2709-9T>C Single submitter
- c.2792+7G>C Single submitter
- c.2793-5T>C Single submitter
- c.2793-7C>T Single submitter
- c.28+12T>A Single submitter
- c.28+13G>C Single submitter
- c.28+14_28+15insCAC Single submitter
- c.28+17T>A Single submitter
- c.28+7G>A Single submitter
- c.2868+10T>C Single submitter
- c.2868+10T>G Single submitter
- c.2868+16G>A Single submitter
- c.2868+16G>C Single submitter
- c.2869-10C>A Single submitter
- c.2869-17C>T Single submitter
- c.2869-4G>A Single submitter
- c.2869-6G>A Single submitter
- c.2869-9C>T Single submitter
- c.29-13A>C Single submitter
- c.29-6C>T Single submitter
- c.2976+13C>G Single submitter
- c.2976+13C>T Single submitter
- c.2976+14G>A Single submitter
- c.2976+7G>A Single submitter
- c.2976+9A>C Single submitter
- c.2977-19A>G Single submitter
- c.3060+14T>G Single submitter
- c.3060+15C>T Single submitter
- c.3061-13C>T Single submitter
- c.3061-14C>G Single submitter
- c.3061-16C>A Single submitter
- c.3061-16C>T Single submitter
- c.3061-20T>A Single submitter
- c.3061-9G>C Single submitter
- c.309+14G>A Single submitter
- c.309+14G>T Single submitter
- c.310-19A>G Single submitter
- c.310-4C>A Single submitter
- c.310-4C>T Single submitter
- c.310-7C>T Single submitter
- c.3174+12C>T Single submitter
- c.3174+9G>A Single submitter
- c.3175-17C>T Single submitter
- c.3175-20C>A Single submitter
- c.3175-20C>T Single submitter
- c.3175-9C>T Single submitter
- c.3276+16G>A Single submitter
- c.3276+20A>G Single submitter
- c.3276+8T>C Single submitter
- c.3276+9C>G Single submitter
- c.3277-13C>G Single submitter
- c.3277-19C>T Single submitter
- c.3277-20G>A Single submitter
- c.3277-5C>T Single submitter
- c.3277-6C>A Single submitter
- c.3277-6C>T Single submitter
- c.3277-9C>T Single submitter
- c.3387+12T>G Single submitter
- c.3387+17C>A Single submitter
- c.3387+19_3387+20dup Single submitter
- c.3387+20C>T Single submitter
- c.3387+8_3387+9del Single submitter
- c.3387+8C>T Single submitter
- c.3387+9C>T Single submitter
- c.3388-12T>C Single submitter
- c.3388-14C>T Single submitter
- c.3388-18C>A Single submitter
- c.3388-18C>T Single submitter
- c.427+10C>T Single submitter
- c.427+17A>G Single submitter
- c.427+7T>C Single submitter
- c.428-13T>C Single submitter
- c.428-16T>C Single submitter
- c.428-5C>A Single submitter
- c.428-7T>G Single submitter
- c.428-9C>T Single submitter
- c.558+10C>T Single submitter
- c.558+11A>G Single submitter
- c.558+11del Single submitter
- c.558+16T>A Single submitter
- c.558+7G>T Single submitter
- c.559-10C>G Single submitter
- c.559-10C>T Single submitter
- c.559-11C>A Single submitter
- c.559-11C>G Single submitter
- c.559-13G>A Single submitter
- c.559-14C>T Single submitter
- c.559-5C>T Single submitter
- c.559-9C>G Single submitter
- c.559-9C>T Single submitter
- c.704+11C>T Single submitter
- c.704+12C>T Single submitter
- c.704+13T>G Single submitter
- c.704+9C>T Single submitter
- c.705-5C>T Single submitter
- c.705-9C>T Single submitter
- c.858+16del Single submitter
- c.858+20G>A Single submitter
- c.859-14T>G Single submitter
- c.859-19C>T Single submitter
- p.Ala10= Single submitter
- p.Ala1017Thr Single submitter
- p.Ala1087= Single submitter
- p.Ala1121= Single submitter
- p.Ala1149= Single submitter
- p.Ala249= Single submitter
- p.Ala358= Single submitter
- p.Ala408= Single submitter
- p.Ala433= Single submitter
- p.Ala50= Single submitter
- p.Ala689= Single submitter
- p.Ala753= Single submitter
- p.Ala762= Single submitter
- p.Ala84= Single submitter
- p.Ala846= Single submitter
- p.Arg1015= Single submitter
- p.Arg1135= Single submitter
- p.Arg167= Single submitter
- p.Arg197Trp Single submitter ⚠
- p.Arg297= Single submitter
- p.Arg32= Single submitter
- p.Arg415Trp Single submitter ⚠
- p.Arg487= Single submitter
- p.Arg498= Single submitter
- p.Arg500= Single submitter
- p.Arg519= Single submitter
- p.Arg633= Single submitter
- p.Arg77= Single submitter
- p.Arg841= Single submitter
- p.Arg844Cys Single submitter ⚠
- p.Arg909= Single submitter
- p.Asn23= Single submitter
- p.Asn243= Single submitter
- p.Asn30= Single submitter
- p.Asn362= Single submitter
- p.Asn445= Single submitter
- p.Asn58= Single submitter
- p.Asn696= Single submitter
- p.Asn801= Single submitter
- p.Asn808= Single submitter
- p.Asn900= Single submitter
- p.Asn946= Single submitter
- p.Asp148= Single submitter
- p.Asp264= Single submitter
- p.Asp310= Single submitter
- p.Asp465= Single submitter
- p.Asp529= Single submitter
- p.Asp537= Single submitter
- p.Asp592= Single submitter
- p.Asp596= Single submitter
- p.Asp663= Single submitter
- p.Asp677= Single submitter
- p.Asp773= Single submitter
- p.Asp790= Single submitter
- p.Cys1032= Single submitter
- p.Cys66= Single submitter
- p.Cys73= Single submitter
- p.Gln1031= Single submitter
- p.Gln1040= Single submitter
- p.Gln298= Single submitter
- p.Gln490= Single submitter
- p.Gln703= Single submitter
- p.Gln954= Single submitter
- p.Glu1094= Single submitter
- p.Glu171= Single submitter
- p.Glu278= Single submitter
- p.Glu330= Single submitter
- p.Glu443= Single submitter
- p.Glu767= Single submitter
- p.Gly1144= Single submitter
- p.Gly143= Single submitter
- p.Gly259= Single submitter
- p.Gly263= Single submitter
- p.Gly370= Single submitter
- p.Gly454= Single submitter
- p.Gly489= Single submitter
- p.Gly589= Single submitter
- p.Gly590= Single submitter
- p.Gly604= Single submitter
- p.Gly607= Single submitter
- p.Gly90= Single submitter
- p.His1007= Single submitter
- p.His311= Single submitter
- p.Ile1034= Single submitter
- p.Ile1057= Single submitter
- p.Ile252= Single submitter
- p.Ile303= Single submitter
- p.Ile335= Single submitter
- p.Ile429= Single submitter
Uncertain significance 614
Showing the top 300 by review status; the full set is in the sitemap.
- c.704+5G>A Multiple submitters ITGAM-related disorder
- p.Ala31Thr Multiple submitters ⚠
- p.Ala433Val Multiple submitters ⚠
- p.Ala753Val Multiple submitters ⚠
- p.Ala943Val Multiple submitters ⚠
- p.Arg1003His Multiple submitters ⚠
- p.Arg131Trp Multiple submitters ⚠
- p.Arg224Trp Multiple submitters ⚠
- p.Arg232Cys Multiple submitters ⚠
- p.Arg297Cys Multiple submitters ⚠
- p.Arg297His Multiple submitters ⚠
- p.Arg309His Multiple submitters ⚠
- p.Arg498Lys Multiple submitters ⚠
- p.Arg502Trp Multiple submitters ⚠
- p.Arg570Trp Multiple submitters ⚠
- p.Arg579Ser Multiple submitters ITGAM-related disorder ⚠
- p.Arg662Trp Multiple submitters ⚠
- p.Arg664Gln Multiple submitters ⚠
- p.Arg664Trp Multiple submitters ⚠
- p.Arg699His Multiple submitters ⚠
- p.Arg749Trp Multiple submitters ⚠
- p.Arg77Cys Multiple submitters ⚠
- p.Arg798Gln Multiple submitters ⚠
- p.Arg798Trp Multiple submitters ⚠
- p.Arg985His Multiple submitters ⚠
- p.Asn1104Lys Multiple submitters ⚠
- p.Asn210Lys Multiple submitters ⚠
- p.Asn692Ser Multiple submitters ⚠
- p.Asn747Lys Multiple submitters ⚠
- p.Asp310Asn Multiple submitters ⚠
- p.Cys1032Arg Multiple submitters ⚠
- p.Gln327Lys Multiple submitters ⚠
- p.Gln817Leu Multiple submitters ⚠
- p.Glu1094Lys Multiple submitters ⚠
- p.Glu637Gly Multiple submitters ⚠
- p.Glu848Asp Multiple submitters ⚠
- p.Gly1049Ser Multiple submitters ⚠
- p.Gly1145Val Multiple submitters ⚠
- p.Gly244Arg Multiple submitters ⚠
- p.Gly454Ser Multiple submitters
- p.Gly597Glu Multiple submitters ⚠
- p.Gly683Ser Multiple submitters ⚠
- p.Gly810Asp Multiple submitters ⚠
- p.Ile1066Met Multiple submitters ⚠
- p.Ile241Leu Multiple submitters ⚠
- p.Ile359Val Multiple submitters ⚠
- p.Ile453Met Multiple submitters ⚠
- p.Ile477Val Multiple submitters ⚠
- p.Ile870Val Multiple submitters ⚠
- p.Leu41His Multiple submitters ⚠
- p.Leu678Val Multiple submitters ⚠
- p.Lys170Arg Multiple submitters ⚠
- p.Lys203Glu Multiple submitters ⚠
- p.Lys247Glu Multiple submitters ⚠
- p.Lys894Glu Multiple submitters ⚠
- p.Met927Val Multiple submitters ⚠
- p.Met951Ile Multiple submitters ⚠
- p.Phe784Cys Multiple submitters ⚠
- p.Pro100Leu Multiple submitters ⚠
- p.Pro100Thr Multiple submitters ⚠
- p.Pro872Arg Multiple submitters ⚠
- p.Pro920Leu Multiple submitters ⚠
- p.Ser1060Thr Multiple submitters ⚠
- p.Ser1077Tyr Multiple submitters ⚠
- p.Ser1091Thr Multiple submitters ⚠
- p.Ser114Arg Multiple submitters ⚠
- p.Ser344Arg Multiple submitters ⚠
- p.Ser566Phe Multiple submitters ⚠
- p.Ser672Asn Multiple submitters ⚠
- p.Ser727Asn Multiple submitters ⚠
- p.Ser861Gly Multiple submitters ⚠
- p.Ser958Arg Multiple submitters ⚠
- p.Ser98Arg Multiple submitters ⚠
- p.Thr602Ser Multiple submitters ⚠
- p.Thr702Ile Multiple submitters ⚠
- p.Thr947Ser Multiple submitters ⚠
- p.Tyr268Asn Multiple submitters ⚠
- p.Val1110Met Multiple submitters ⚠
- p.Val284Asp Multiple submitters ⚠
- p.Val312Met Multiple submitters ⚠
- p.Val38Met Multiple submitters ⚠
- p.Val464Met Multiple submitters ⚠
- p.Val46Met Multiple submitters ⚠
- p.Val603Ile Multiple submitters ⚠
- p.Val651Ile Multiple submitters ⚠
- p.Val690Ala Multiple submitters ⚠
- p.Val726Leu Multiple submitters ⚠
- p.Val85Met Multiple submitters ⚠
- p.Val934Phe Multiple submitters ⚠
- c.1009+5G>C Single submitter
- c.1083+5G>A Single submitter
- c.1083+5G>C Single submitter
- c.1083+6T>G Single submitter
- c.1213+1G>T Single submitter
- c.134+4A>T Single submitter
- c.135-1G>A Single submitter
- c.1497+1del Single submitter
- c.1497+2T>G Single submitter
- c.1497+4A>G Single submitter
- c.1498-6T>G Single submitter
- c.1838+2T>A Single submitter
- c.2002+3G>A Single submitter
- c.2158-13G>A Single submitter
- c.2289+1G>C Single submitter
- c.2289+1G>T Single submitter
- c.2289+6T>A Single submitter
- c.2290-10_2290-4del Single submitter
- c.2290-17T>G Single submitter
- c.2363+5G>A Single submitter
- c.2364-6C>T Single submitter
- c.238_238+3dup Single submitter
- c.239-6C>A Single submitter
- c.239-6C>T Single submitter
- c.2505+2T>C Single submitter
- c.2506-1G>A Single submitter
- c.2708+1del Single submitter
- c.2708+6C>T Single submitter
- c.2709-15_2709-14delinsGC Single submitter
- c.2709-8C>G Single submitter
- c.2792+4C>T Single submitter
- c.2793-3C>T Single submitter
- c.2868+4G>A Single submitter
- c.2868+5G>A Single submitter
- c.2868+6C>T Single submitter
- c.2869-7G>A Single submitter
- c.29-3T>C Single submitter
- c.2976+3G>T Single submitter
- c.2976+6C>T Single submitter
- c.2977-15_2977-14insCCCTTCTCA Single submitter
- c.2977-15C>A Single submitter
- c.3060+10dup Single submitter
- c.3174+1G>A Single submitter
- c.3388-13_3388-11del Single submitter
- c.428-2A>G Single submitter
- c.428-3C>T Single submitter
- c.558+19G>A Single submitter
- c.704+5G>T Single submitter
- c.704+6C>T Single submitter
- c.704+9_704+10delinsTG Single submitter
- c.705-3C>T Single submitter
- c.859-18_859-17insTGGTAAATCATCTCACAC Single submitter
- c.859-2A>G Single submitter
- p.Ala1017Ser Single submitter ⚠
- p.Ala1017Val Single submitter ⚠
- p.Ala1025Ser Single submitter ⚠
- p.Ala104Val Single submitter ⚠
- p.Ala1070Thr Single submitter ⚠
- p.Ala1125Thr Single submitter ⚠
- p.Ala1126Thr Single submitter ⚠
- p.Ala140Ser Single submitter ⚠
- p.Ala152Ile Single submitter
- p.Ala228Thr Single submitter ⚠
- p.Ala249Thr Single submitter ⚠
- p.Ala275Pro Single submitter ⚠
- p.Ala2Ser Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Ala334Val Single submitter ⚠
- p.Ala357Thr Single submitter ⚠
- p.Ala357Val Single submitter ⚠
- p.Ala407Thr Single submitter ⚠
- p.Ala408Asp Single submitter ⚠
- p.Ala409Thr Single submitter ⚠
- p.Ala423fs Single submitter
- p.Ala423Thr Single submitter ⚠
- p.Ala433Gly Single submitter ⚠
- p.Ala501Ser Single submitter ⚠
- p.Ala50Gly Single submitter ⚠
- p.Ala50Thr Single submitter ⚠
- p.Ala539Val Single submitter ⚠
- p.Ala551Val Single submitter ⚠
- p.Ala605Thr Single submitter ⚠
- p.Ala632Ser Single submitter ⚠
- p.Ala679Ser Single submitter ⚠
- p.Ala756Gly Single submitter ⚠
- p.Ala850Thr Single submitter ⚠
- p.Ala889Thr Single submitter ⚠
- p.Ala899= Single submitter
- p.Ala94Gly Single submitter
- p.Arg1015Gln Single submitter ⚠
- p.Arg1015Trp Single submitter ⚠
- p.Arg1135Pro Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg142Ter Single submitter
- p.Arg167Gln Single submitter ⚠
- p.Arg167Trp Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg168Trp Single submitter ⚠
- p.Arg197Gln Single submitter ⚠
- p.Arg224Gln Single submitter ⚠
- p.Arg232His Single submitter ⚠
- p.Arg236Gln Single submitter ⚠
- p.Arg236Ter Single submitter
- p.Arg277Ile Single submitter ⚠
- p.Arg292Cys Single submitter ⚠
- p.Arg292His Single submitter ⚠
- p.Arg309Cys Single submitter ⚠
- p.Arg329Gln Single submitter ⚠
- p.Arg394Ser Single submitter ⚠
- p.Arg413Gln Single submitter ⚠
- p.Arg413Trp Single submitter ⚠
- p.Arg415Gln Single submitter ⚠
- p.Arg425Gln Single submitter ⚠
- p.Arg425Ter Single submitter
- p.Arg436fs Single submitter
- p.Arg45Lys Single submitter ⚠
- p.Arg487Gln Single submitter ⚠
- p.Arg487Ter Single submitter
- p.Arg500Lys Single submitter ⚠
- p.Arg502Gln Single submitter ⚠
- p.Arg519Cys Single submitter ⚠
- p.Arg519His Single submitter ⚠
- p.Arg549Trp Single submitter ⚠
- p.Arg570Gln Single submitter ⚠
- p.Arg60Lys Single submitter ⚠
- p.Arg613Ser Single submitter ⚠
- p.Arg629Met Single submitter ⚠
- p.Arg629Trp Single submitter ⚠
- p.Arg652Ile Single submitter ⚠
- p.Arg662Gln Single submitter ⚠
- p.Arg666Lys Single submitter ⚠
- p.Arg684Cys Single submitter ⚠
- p.Arg684His Single submitter ⚠
- p.Arg688Cys Single submitter ⚠
- p.Arg688His Single submitter
- p.Arg699Cys Single submitter ⚠
- p.Arg732Cys Single submitter ⚠
- p.Arg732Ser Single submitter ⚠
- p.Arg749Gln Single submitter ⚠
- p.Arg749Pro Single submitter ⚠
- p.Arg815Gly Single submitter ⚠
- p.Arg815Lys Single submitter ⚠
- p.Arg829Gln Single submitter ⚠
- p.Arg829Trp Single submitter ⚠
- p.Arg838Cys Single submitter ⚠
- p.Arg838His Single submitter ⚠
- p.Arg838Leu Single submitter ⚠
- p.Arg841Gly Single submitter ⚠
- p.Arg909Gly Single submitter ⚠
- p.Arg909Lys Single submitter ⚠
- p.Arg949Gln Single submitter ⚠
- p.Arg949Trp Single submitter ⚠
- p.Arg963Thr Single submitter ⚠
- p.Arg976Gln Single submitter ⚠
- p.Arg976Leu Single submitter ⚠
- p.Arg976Trp Single submitter ⚠
- p.Arg985Gly Single submitter ⚠
- p.Asn129Ser Single submitter ⚠
- p.Asn18Ser Single submitter ⚠
- p.Asn208Lys Single submitter ⚠
- p.Asn208Ser Single submitter ⚠
- p.Asn210Asp Single submitter ⚠
- p.Asn240Asp Single submitter ⚠
- p.Asn414Ser Single submitter ⚠
- p.Asn445Ser Single submitter ⚠
- p.Asn469Lys Single submitter ⚠
- p.Asn627Ser Single submitter ⚠
- p.Asn639Tyr Single submitter ⚠
- p.Asn747Ser Single submitter ⚠
- p.Asn900Lys Single submitter ⚠
- p.Asn900Ser Single submitter ⚠
- p.Asn905Ser Single submitter ⚠
- p.Asn906His Single submitter ⚠
- p.Asn911= Single submitter
- p.Asn993Ser Single submitter ⚠
- p.Asp1139Asn Single submitter ⚠
- p.Asp20Asn Single submitter ⚠
- p.Asp20Gly Single submitter ⚠
- p.Asp264Asn Single submitter ⚠
- p.Asp270Asn Single submitter ⚠
- p.Asp373Glu Single submitter
- p.Asp398Asn Single submitter ⚠
- p.Asp398Gly Single submitter ⚠
- p.Asp467Asn Single submitter ⚠
- p.Asp473Asn Single submitter ⚠
- p.Asp473Gly Single submitter ⚠
- p.Asp592Glu Single submitter ⚠
- p.Asp600Val Single submitter ⚠
- p.Asp778Gly Single submitter ⚠
- p.Asp779Glu Single submitter ⚠
- p.Asp812Asn Single submitter ⚠
- p.Asp886Ala Single submitter ⚠
- p.Asp984fs Single submitter
- p.Cys1022Phe Single submitter ⚠
- p.Cys1027Phe Single submitter ⚠
- p.Cys113Tyr Single submitter ⚠
- p.Cys144Ter Single submitter
- p.Cys654Gly Single submitter ⚠
- p.Cys711Gly Single submitter ⚠
- p.Cys73Gly Single submitter ⚠
- p.Cys864fs Single submitter
- p.Cys998Ser Single submitter ⚠
- p.Gln101fs Single submitter
- p.Gln101Pro Single submitter
- p.Gln1028His Single submitter ⚠
- p.Gln1092fs Single submitter
- p.Gln132Arg Single submitter ⚠
- p.Gln132Ter Single submitter
- p.Gln298His Single submitter ⚠
- p.Gln339His Single submitter ⚠
- p.Gln417Ter Single submitter