RASGRP1 — 495 ClinVar variants
All ClinVar germline RASGRP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 189 flagged for review →
22 Pathogenic · 3 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 3 Conflicting · 12 Benign · 11 Benign/Likely benign · 221 Likely benign · 217 Uncertain significance
Full RASGRP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 189
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 146
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RASGRP1 p.Ala57Ser Uncertain significance Multiple submitters
- RASGRP1 p.Arg167Cys Uncertain significance Multiple submitters
- RASGRP1 p.Arg177His Uncertain significance Multiple submitters
- RASGRP1 p.Arg663Gln Uncertain significance Multiple submitters
- RASGRP1 p.Arg741His Uncertain significance Multiple submitters
- RASGRP1 p.Asn241Ser Uncertain significance Multiple submitters
- RASGRP1 p.Asn339Ser Uncertain significance Multiple submitters
- RASGRP1 p.Asp64Asn Uncertain significance Multiple submitters
- RASGRP1 p.Cys713Arg Uncertain significance Multiple submitters
- RASGRP1 p.Gln71Arg Uncertain significance Multiple submitters
- RASGRP1 p.Glu346Gly Uncertain significance Multiple submitters
- RASGRP1 p.Gly253Ser Uncertain significance Multiple submitters
- RASGRP1 p.His641Tyr Uncertain significance Multiple submitters
- RASGRP1 p.Ile107Phe Uncertain significance Multiple submitters
- RASGRP1 p.Lys116Asn Uncertain significance Multiple submitters
- RASGRP1 p.Phe690Ser Uncertain significance Multiple submitters
- RASGRP1 p.Pro34Leu Uncertain significance Multiple submitters
- RASGRP1 p.Ser313Asn Uncertain significance Multiple submitters
- RASGRP1 p.Ser661Ala Uncertain significance Multiple submitters
- RASGRP1 p.Thr149Ile Uncertain significance Multiple submitters
- RASGRP1 p.Thr267Ser Uncertain significance Multiple submitters
- RASGRP1 p.Thr45Asn Uncertain significance Multiple submitters
- RASGRP1 p.Thr757Ser Uncertain significance Multiple submitters
- RASGRP1 p.Tyr372Cys Uncertain significance Multiple submitters
-
RASGRP1 p.Tyr387His
Uncertain significance
Multiple submitters
immunodeficiency 64
- RASGRP1 p.Val157Leu Uncertain significance Multiple submitters
- RASGRP1 p.Ala144Thr Uncertain significance Single submitter
- RASGRP1 p.Ala159Thr Uncertain significance Single submitter
- RASGRP1 p.Ala159Val Uncertain significance Single submitter
- RASGRP1 p.Ala176Val Uncertain significance Single submitter
- RASGRP1 p.Ala28Gly Uncertain significance Single submitter
- RASGRP1 p.Ala343Val Uncertain significance Single submitter
-
RASGRP1 p.Ala400Asp
Uncertain significance
Single submitter
immunodeficiency 64
- RASGRP1 p.Ala400Val Uncertain significance Single submitter
- RASGRP1 p.Ala619Pro Uncertain significance Single submitter
- RASGRP1 p.Arg167His Uncertain significance Single submitter
- RASGRP1 p.Arg271Gln Uncertain significance Single submitter
- RASGRP1 p.Arg341Trp Uncertain significance Single submitter
- RASGRP1 p.Arg342Gln Uncertain significance Single submitter
- RASGRP1 p.Arg648Gly Uncertain significance Single submitter
- RASGRP1 p.Arg648Trp Uncertain significance Single submitter
- RASGRP1 p.Arg666Lys Uncertain significance Single submitter
- RASGRP1 p.Arg741Cys Uncertain significance Single submitter
- RASGRP1 p.Arg741Leu Uncertain significance Single submitter
- RASGRP1 p.Arg81Gln Uncertain significance Single submitter
- RASGRP1 p.Arg94Gln Uncertain significance Single submitter
- RASGRP1 p.Asn252Ser Uncertain significance Single submitter
- RASGRP1 p.Asn32Lys Uncertain significance Single submitter
- RASGRP1 p.Asn388His Uncertain significance Single submitter
- RASGRP1 p.Asn543Asp Uncertain significance Single submitter
- RASGRP1 p.Asn605Lys Uncertain significance Single submitter
- RASGRP1 p.Asn78Ser Uncertain significance Single submitter
- RASGRP1 p.Asp148Val Uncertain significance Single submitter
- RASGRP1 p.Asp349Asn Uncertain significance Single submitter
- RASGRP1 p.Asp453Glu Uncertain significance Single submitter
- RASGRP1 p.Asp485Asn Uncertain significance Single submitter
- RASGRP1 p.Asp485His Uncertain significance Single submitter
- RASGRP1 p.Asp487Val Uncertain significance Single submitter
- RASGRP1 p.Asp731Asn Uncertain significance Single submitter
- RASGRP1 p.Asp761Tyr Uncertain significance Single submitter
- RASGRP1 p.Cys166Tyr Uncertain significance Single submitter
- RASGRP1 p.Gln230Arg Uncertain significance Single submitter
- RASGRP1 p.Gln658Arg Uncertain significance Single submitter
- RASGRP1 p.Gln780His Uncertain significance Single submitter
- RASGRP1 p.Glu155Lys Uncertain significance Single submitter
- RASGRP1 p.Glu211Asp Uncertain significance Single submitter
- RASGRP1 p.Glu434Asp Uncertain significance Single submitter
- RASGRP1 p.Glu644Lys Uncertain significance Single submitter
- RASGRP1 p.Glu750Lys Uncertain significance Single submitter
- RASGRP1 p.Glu752Gln Uncertain significance Single submitter
- RASGRP1 p.Glu754Lys Uncertain significance Single submitter
- RASGRP1 p.Glu777Gly Uncertain significance Single submitter
- RASGRP1 p.Gly325Asp Uncertain significance Single submitter
- RASGRP1 p.Gly325Ser Uncertain significance Single submitter
- RASGRP1 p.Gly636Arg Uncertain significance Single submitter
- RASGRP1 p.Gly642Arg Uncertain significance Single submitter
- RASGRP1 p.Gly794Asp Uncertain significance Single submitter
- RASGRP1 p.His165Tyr Uncertain significance Single submitter
- RASGRP1 p.His286Gln Uncertain significance Single submitter
- RASGRP1 p.His315Arg Uncertain significance Single submitter
- RASGRP1 p.His318Asn Uncertain significance Single submitter
- RASGRP1 p.His786Arg Uncertain significance Single submitter
- RASGRP1 p.Ile133Val Uncertain significance Single submitter
- RASGRP1 p.Ile187Leu Uncertain significance Single submitter
- RASGRP1 p.Ile254Val Uncertain significance Single submitter
- RASGRP1 p.Ile306Val Uncertain significance Single submitter
- RASGRP1 p.Ile320Met Uncertain significance Single submitter
- RASGRP1 p.Ile354Val Uncertain significance Single submitter
- RASGRP1 p.Ile681Val Uncertain significance Single submitter
- RASGRP1 p.Leu183Pro Uncertain significance Single submitter
- RASGRP1 p.Leu324Phe Uncertain significance Single submitter
-
RASGRP1 p.Leu383Ile
Uncertain significance
Single submitter
immunodeficiency 64
- RASGRP1 p.Leu622Pro Uncertain significance Single submitter
- RASGRP1 p.Leu664Arg Uncertain significance Single submitter
- RASGRP1 p.Lys219Arg Uncertain significance Single submitter
- RASGRP1 p.Lys665Glu Uncertain significance Single submitter
- RASGRP1 p.Lys737Glu Uncertain significance Single submitter
- RASGRP1 p.Met139Leu Uncertain significance Single submitter
- RASGRP1 p.Met139Thr Uncertain significance Single submitter
- RASGRP1 p.Met142Val Uncertain significance Single submitter
- RASGRP1 p.Met150Val Uncertain significance Single submitter
- RASGRP1 p.Met653Thr Uncertain significance Single submitter
- RASGRP1 p.Phe291Leu Uncertain significance Single submitter
- RASGRP1 p.Pro119Arg Uncertain significance Single submitter
- RASGRP1 p.Pro119Ser Uncertain significance Single submitter
- RASGRP1 p.Pro14Leu Uncertain significance Single submitter
- RASGRP1 p.Pro435Gln Uncertain significance Single submitter
-
RASGRP1 p.Pro441Ser
Uncertain significance
Single submitter
immunodeficiency 64
- RASGRP1 p.Pro630Ser Uncertain significance Single submitter
- RASGRP1 p.Pro689Leu Uncertain significance Single submitter
- RASGRP1 p.Pro709His Uncertain significance Single submitter
- RASGRP1 p.Pro712Thr Uncertain significance Single submitter
- RASGRP1 p.Ser180Cys Uncertain significance Single submitter
- RASGRP1 p.Ser192Gly Uncertain significance Single submitter
- RASGRP1 p.Ser227Cys Uncertain significance Single submitter
- RASGRP1 p.Ser22Phe Uncertain significance Single submitter
- RASGRP1 p.Ser314Leu Uncertain significance Single submitter
- RASGRP1 p.Ser33Ile Uncertain significance Single submitter
- RASGRP1 p.Ser391Ile Uncertain significance Single submitter
- RASGRP1 p.Ser391Thr Uncertain significance Single submitter
- RASGRP1 p.Ser468Gly Uncertain significance Single submitter
- RASGRP1 p.Ser468Thr Uncertain significance Single submitter
- RASGRP1 p.Ser607Phe Uncertain significance Single submitter
- RASGRP1 p.Ser612Thr Uncertain significance Single submitter
- RASGRP1 p.Ser645Asn Uncertain significance Single submitter
- RASGRP1 p.Ser715Gly Uncertain significance Single submitter
- RASGRP1 p.Ser732Pro Uncertain significance Single submitter
- RASGRP1 p.Ser82Asn Uncertain significance Single submitter
- RASGRP1 p.Thr171Ile Uncertain significance Single submitter
- RASGRP1 p.Thr547Ala Uncertain significance Single submitter
- RASGRP1 p.Thr606Ile Uncertain significance Single submitter
- RASGRP1 p.Thr702Ala Uncertain significance Single submitter
- RASGRP1 p.Thr702Ile Uncertain significance Single submitter
- RASGRP1 p.Tyr366Cys Uncertain significance Single submitter
- RASGRP1 p.Tyr427His Uncertain significance Single submitter
- RASGRP1 p.Tyr570Cys Uncertain significance Single submitter
- RASGRP1 p.Val234Ala Uncertain significance Single submitter
- RASGRP1 p.Val238Met Uncertain significance Single submitter
- RASGRP1 p.Val475Leu Uncertain significance Single submitter
- RASGRP1 p.Val51Leu Uncertain significance Single submitter
- RASGRP1 p.Val51Met Uncertain significance Single submitter
- RASGRP1 p.Val611Leu Uncertain significance Single submitter
- RASGRP1 p.Val611Met Uncertain significance Single submitter
- RASGRP1 p.Val655Met Uncertain significance Single submitter
- RASGRP1 p.Val691Ala Uncertain significance Single submitter
- RASGRP1 p.Val705Leu Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- RASGRP1 p.Lys277Arg Uncertain significance Multiple submitters
- RASGRP1 p.Phe633Leu Uncertain significance Multiple submitters
- RASGRP1 p.Arg181Ser Uncertain significance Single submitter
- RASGRP1 p.Arg246Gln Uncertain significance Single submitter
- RASGRP1 p.Arg265Cys Uncertain significance Single submitter
- RASGRP1 p.Arg265His Uncertain significance Single submitter
- RASGRP1 p.Arg433Gln Uncertain significance Single submitter
- RASGRP1 p.Arg663Pro Uncertain significance Single submitter
- RASGRP1 p.Asn543Lys Uncertain significance Single submitter
- RASGRP1 p.Asp476Asn Uncertain significance Single submitter
- RASGRP1 p.Asp76Val Uncertain significance Single submitter
- RASGRP1 p.Cys251Tyr Uncertain significance Single submitter
- RASGRP1 p.Gln395Pro Uncertain significance Single submitter
- RASGRP1 p.Gly376Arg Uncertain significance Single submitter
- RASGRP1 p.Gly576Glu Uncertain significance Single submitter
- RASGRP1 p.His165Gln Uncertain significance Single submitter
- RASGRP1 p.His411Arg Uncertain significance Single submitter
- RASGRP1 p.His470Gln Uncertain significance Single submitter
- RASGRP1 p.Ile248Thr Uncertain significance Single submitter
- RASGRP1 p.Ile776Thr Uncertain significance Single submitter
- RASGRP1 p.Leu102Val Uncertain significance Single submitter
- RASGRP1 p.Leu409Phe Uncertain significance Single submitter
- RASGRP1 p.Lys461Ile Uncertain significance Single submitter
- RASGRP1 p.Lys480Thr Uncertain significance Single submitter
-
RASGRP1 p.Lys721Asn
Uncertain significance
Single submitter
immunodeficiency 64
- RASGRP1 p.Lys726Glu Uncertain significance Single submitter
- RASGRP1 p.Met369Arg Uncertain significance Single submitter
- RASGRP1 p.Met369Ile Uncertain significance Single submitter
- RASGRP1 p.Met509Ile Uncertain significance Single submitter
- RASGRP1 p.Met527Ile Uncertain significance Single submitter
- RASGRP1 p.Phe136Leu Uncertain significance Single submitter
- RASGRP1 p.Phe218Ile Uncertain significance Single submitter
- RASGRP1 p.Phe589Ser Uncertain significance Single submitter
- RASGRP1 p.Pro268Leu Uncertain significance Single submitter
- RASGRP1 p.Pro317Ala Uncertain significance Single submitter
- RASGRP1 p.Ser198Cys Uncertain significance Single submitter
- RASGRP1 p.Thr267Met Uncertain significance Single submitter
- RASGRP1 p.Thr548Asn Uncertain significance Single submitter
- RASGRP1 p.Tyr431His Uncertain significance Single submitter
- RASGRP1 p.Val129Ala Uncertain significance Single submitter
- RASGRP1 p.Val587Ala Uncertain significance Single submitter
All RASGRP1 variants
Pathogenic 22
- c.1720+1G>A Single submitter immunodeficiency 64
- c.1720+2T>C Single submitter immunodeficiency 64
- p.Ala638fs Single submitter RASGRP1-related disorder
- p.Arg271Ter Single submitter
- p.Arg342Ter Single submitter
- p.Arg439fs Single submitter
- p.Arg594Ter Single submitter
- p.Asp74Ter Single submitter
- p.Cys575Ter Single submitter
- p.Gln289Ter Single submitter
- p.Gln545Ter Single submitter
- p.His411fs Single submitter immunodeficiency 64
- p.Phe506fs Single submitter
- p.Ser118Ter Single submitter
- p.Thr243fs Single submitter
- p.Thr293fs Single submitter
- p.Trp727Ter Single submitter
- p.Val316fs Single submitter
- p.Arg246Ter No assertion criteria immunodeficiency 64
- p.Lys322Ter No assertion criteria immunodeficiency 64
- p.Thr214Ile No assertion criteria immunodeficiency 64
- p.Trp257Ter No assertion criteria immunodeficiency 64
Pathogenic/Likely pathogenic 3
- c.327-1C>G Multiple submitters immunodeficiency 64
- p.Arg81Ter Multiple submitters immunodeficiency 64
- p.Ser732_Leu733insTer Multiple submitters immunodeficiency 64
Likely pathogenic 6
- c.1418_1428+3del Multiple submitters immunodeficiency 64
- c.1324-2A>G Single submitter
- c.1428+1G>A Single submitter
- c.1720+1G>C Single submitter
- c.1720+1G>T Single submitter RASGRP1-related disorder
- c.521+1G>C Single submitter
Conflicting classifications of pathogenicity 3
- c.849+8A>G Single submitter
- p.Arg48Gln Single submitter ⚠
- p.Cys80Tyr Single submitter ⚠
Benign 12
- p.Glu493= Multiple submitters
- p.Leu164Ile Multiple submitters
- p.Phe495= Multiple submitters immunodeficiency 64
- p.Tyr482= Multiple submitters
- c.1684-90T>C Single submitter
- c.1721-136G>A Single submitter
- c.1873+110A>G Single submitter
- c.220+1760A>G Single submitter
- c.220+5344G>A Single submitter
- c.390-17dup Single submitter
- c.850-100dup Single submitter
- p.Leu331= Single submitter
Benign/Likely benign 11
- c.522-8C>G Multiple submitters
- c.676-16G>T Multiple submitters immunodeficiency 64
- c.850-14C>T Multiple submitters
- p.Asn292= Multiple submitters immunodeficiency 64
- p.Asp112= Multiple submitters
- p.Asp143= Multiple submitters immunodeficiency 64
- p.His165= Multiple submitters
- p.Leu409= Multiple submitters
- p.Leu516= Multiple submitters
- p.Thr267= Multiple submitters
- p.Tyr337= Multiple submitters immunodeficiency 64
Likely benign 221
- c.221-8A>G Multiple submitters
- c.389+15T>C Multiple submitters
- c.850-11_850-10del Multiple submitters
- p.Ala500= Multiple submitters
- p.Asp375= Multiple submitters
- p.Ile681Thr Multiple submitters
- p.Leu301= Multiple submitters
- p.Leu617= Multiple submitters
- p.Phe544= Multiple submitters
- p.Pro268= Multiple submitters
- p.Ser210= Multiple submitters
- p.Ser264= Multiple submitters
- p.Ser334= Multiple submitters
- c.1242+12A>G Single submitter
- c.1242+19G>A Single submitter
- c.1242+20A>T Single submitter
- c.1242+7C>T Single submitter
- c.1323+10_1323+11delinsAA Single submitter
- c.1324-18C>T Single submitter
- c.1429-15del Single submitter
- c.1429-16A>T Single submitter
- c.1429-17A>C Single submitter
- c.1429-17A>T Single submitter
- c.1429-18A>C Single submitter
- c.1429-18A>G Single submitter
- c.1429-20A>G Single submitter
- c.1429-7T>A Single submitter
- c.1429-7T>G Single submitter
- c.1538+11G>C Single submitter
- c.1538+18G>A Single submitter
- c.1539-10del Single submitter
- c.1539-20C>T Single submitter
- c.1539-5G>A Single submitter
- c.1539-6C>T Single submitter
- c.1683+12T>G Single submitter
- c.1683+16G>A Single submitter
- c.1683+19G>C Single submitter
- c.1683+20C>T Single submitter
- c.1683+8G>A Single submitter
- c.1684-10T>C Single submitter
- c.1684-11_1684-10del Single submitter
- c.1684-14C>T Single submitter
- c.1684-20T>C Single submitter
- c.1684-7T>C Single submitter
- c.1720+11A>T Single submitter
- c.1720+14T>C Single submitter
- c.1720+17T>C Single submitter
- c.1720+8_1720+9del Single submitter
- c.1721-11C>T Single submitter
- c.1721-13G>T Single submitter
- c.1721-15A>C Single submitter
- c.1721-8G>C Single submitter
- c.1873+16G>T Single submitter
- c.1873+19C>T Single submitter
- c.1874-14G>A Single submitter
- c.1874-14G>C Single submitter
- c.1874-4A>G Single submitter
- c.1874-5T>C Single submitter
- c.1874-6dup Single submitter
- c.220+14C>T Single submitter
- c.220+19C>T Single submitter
- c.221-16C>T Single submitter
- c.221-5T>C Single submitter
- c.2259+14C>A Single submitter
- c.2260-12C>T Single submitter
- c.2260-13C>T Single submitter
- c.2260-6C>G Single submitter
- c.2260-8C>T Single submitter
- c.326+11A>T Single submitter
- c.326+12C>G Single submitter
- c.326+13A>G Single submitter
- c.327-16T>C Single submitter
- c.327-6C>T Single submitter
- c.36-12C>G Single submitter
- c.389+10C>A Single submitter
- c.389+11T>G Single submitter
- c.389+12T>C Single submitter
- c.389+16G>A Single submitter
- c.390-12C>T Single submitter
- c.390-13C>A Single submitter
- c.390-14C>A Single submitter
- c.390-14C>T Single submitter
- c.390-20_390-17dup Single submitter
- c.390-7C>T Single submitter
- c.390-9T>C Single submitter
- c.521+18G>C Single submitter
- c.522-9C>T Single submitter
- c.675+8T>C Single submitter
- c.676-14_676-13insG Single submitter
- c.676-16G>A Single submitter
- c.676-19G>A Single submitter
- c.676-25GTT[3] Single submitter
- c.676-4G>A Single submitter
- c.676-6C>G Single submitter
- c.676-7C>T Single submitter
- c.849+12G>A Single submitter
- c.849+9C>G Single submitter
- c.850-11C>G Single submitter
- c.850-17T>C Single submitter
- c.850-18del Single submitter
- c.850-9G>C Single submitter
- c.966+13G>A Single submitter
- c.966+8C>T Single submitter
- c.967-4G>A Single submitter
- c.967-9G>T Single submitter
- p.Ala296= Single submitter
- p.Ala432= Single submitter
- p.Ala57= Single submitter
- p.Ala638= Single submitter
- p.Ala667= Single submitter
- p.Ala699= Single submitter
- p.Ala764= Single submitter
- p.Arg186= Single submitter
- p.Arg195= Single submitter
- p.Arg265= Single submitter
- p.Arg571= Single submitter
- p.Arg666= Single submitter
- p.Arg722= Single submitter
- p.Arg94= Single submitter
- p.Asn252= Single submitter
- p.Asn379= Single submitter
- p.Asn543= Single submitter
- p.Asn613= Single submitter
- p.Asn78= Single submitter
- p.Asp463= Single submitter
- p.Asp574= Single submitter
- p.Asp621= Single submitter
- p.Asp63= Single submitter
- p.Asp647= Single submitter
- p.Asp67= Single submitter
- p.Asp76= Single submitter
- p.Cys166= Single submitter
- p.Cys575= Single submitter
- p.Cys615= Single submitter
- p.Gln259= Single submitter
- p.Gln472= Single submitter
- p.Gln700= Single submitter
- p.Gln71= Single submitter
- p.Gln71His Single submitter
- p.Gln790= Single submitter
- p.Gln84= Single submitter
- p.Glu211= Single submitter
- p.Glu374= Single submitter
- p.Glu496= Single submitter
- p.Glu521= Single submitter
- p.Glu637= Single submitter
- p.Glu792= Single submitter
- p.Gly299= Single submitter
- p.Gly54= Single submitter
- p.Gly794= Single submitter
- p.His212= Single submitter
- p.His470= Single submitter
- p.His484= Single submitter
- p.His641= Single submitter
- p.His786= Single submitter
- p.Ile306= Single submitter
- p.Ile498= Single submitter
- p.Ile650= Single submitter
- p.Leu123= Single submitter
- p.Leu156= Single submitter
- p.Leu183= Single submitter
- p.Leu365= Single submitter
- p.Leu386= Single submitter
- p.Leu393= Single submitter
- p.Leu412= Single submitter
- p.Leu417= Single submitter
- p.Leu56= Single submitter
- p.Leu652= Single submitter
- p.Leu692= Single submitter
- p.Leu740= Single submitter
- p.Leu743= Single submitter
- p.Leu765= Single submitter
- p.Leu79= Single submitter
- p.Leu85= Single submitter
- p.Leu86= Single submitter
- p.Lys284= Single submitter
- p.Lys783= Single submitter
- p.Phe35= Single submitter
- p.Pro30= Single submitter
- p.Pro353= Single submitter
- p.Pro36= Single submitter
- p.Pro441= Single submitter
- p.Pro448= Single submitter
- p.Pro707= Single submitter
- p.Pro716= Single submitter
- p.Pro746= Single submitter
- p.Ser145= Single submitter
- p.Ser189= Single submitter
- p.Ser22= Single submitter
- p.Ser220= Single submitter
- p.Ser304= Single submitter
- p.Ser307= Single submitter
- p.Ser314= Single submitter
- p.Ser364= Single submitter
- p.Ser391= Single submitter
- p.Ser416= Single submitter
- p.Ser531= Single submitter
- p.Ser612= Single submitter
- p.Ser68= Single submitter
- p.Ser683Asn Single submitter
- p.Ser687= Single submitter
- p.Ser778= Single submitter
- p.Ter798= Single submitter
- p.Thr243= Single submitter
- p.Thr328= Single submitter
- p.Thr45= Single submitter
- p.Thr547= Single submitter
- p.Thr553= Single submitter
- p.Tyr131= Single submitter
- p.Tyr344= Single submitter
- p.Tyr420= Single submitter
- p.Tyr427= Single submitter
- p.Tyr533= Single submitter
- p.Tyr748= Single submitter
- p.Tyr771= Single submitter
- p.Val234= Single submitter
- p.Val281= Single submitter
- p.Val297= Single submitter
- p.Val705= Single submitter
- p.Val725= Single submitter
- p.Val88= Single submitter
Uncertain significance 217
- p.Ala57Ser Multiple submitters ⚠
- p.Arg167Cys Multiple submitters ⚠
- p.Arg177His Multiple submitters ⚠
- p.Arg663Gln Multiple submitters ⚠
- p.Arg741His Multiple submitters ⚠
- p.Asn241Ser Multiple submitters ⚠
- p.Asn339Ser Multiple submitters ⚠
- p.Asn605del Multiple submitters
- p.Asp64Asn Multiple submitters ⚠
- p.Cys713Arg Multiple submitters ⚠
- p.Gln71Arg Multiple submitters ⚠
- p.Glu346Gly Multiple submitters ⚠
- p.Gly253Ser Multiple submitters ⚠
- p.His641Tyr Multiple submitters ⚠
- p.Ile107Phe Multiple submitters ⚠
- p.Lys116Asn Multiple submitters ⚠
- p.Lys277Arg Multiple submitters ⚠
- p.Phe633Leu Multiple submitters ⚠
- p.Phe690Ser Multiple submitters ⚠
- p.Pro34Leu Multiple submitters ⚠
- p.Ser225= Multiple submitters
- p.Ser313Asn Multiple submitters ⚠
- p.Ser661Ala Multiple submitters ⚠
- p.Thr149Ile Multiple submitters ⚠
- p.Thr267Ser Multiple submitters ⚠
- p.Thr45Asn Multiple submitters ⚠
- p.Thr757Ser Multiple submitters ⚠
- p.Tyr372Cys Multiple submitters ⚠
- p.Tyr387His Multiple submitters immunodeficiency 64 ⚠
- p.Val157Leu Multiple submitters ⚠
- c.1243-3C>T Single submitter
- c.1324-6T>C Single submitter
- c.1429-258G>C Single submitter immunodeficiency 64
- c.389+15T>G Single submitter
- c.675+6T>C Single submitter
- c.676-3C>T Single submitter
- p.Ala144Thr Single submitter ⚠
- p.Ala159Ile Single submitter
- p.Ala159Thr Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Ala176Val Single submitter ⚠
- p.Ala28Gly Single submitter ⚠
- p.Ala343Val Single submitter ⚠
- p.Ala400Asp Single submitter immunodeficiency 64 ⚠
- p.Ala400Val Single submitter ⚠
- p.Ala619Pro Single submitter ⚠
- p.Arg167His Single submitter ⚠
- p.Arg181Ser Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg265Cys Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg341= Single submitter immunodeficiency 64
- p.Arg341Trp Single submitter ⚠
- p.Arg342Gln Single submitter ⚠
- p.Arg433Gln Single submitter ⚠
- p.Arg571Gln Single submitter
- p.Arg648Gly Single submitter ⚠
- p.Arg648Trp Single submitter ⚠
- p.Arg663Pro Single submitter ⚠
- p.Arg666Lys Single submitter ⚠
- p.Arg741Cys Single submitter ⚠
- p.Arg741Leu Single submitter ⚠
- p.Arg81Gln Single submitter ⚠
- p.Arg94Gln Single submitter ⚠
- p.Asn252Ser Single submitter ⚠
- p.Asn32Lys Single submitter ⚠
- p.Asn388His Single submitter ⚠
- p.Asn543Asp Single submitter ⚠
- p.Asn543Lys Single submitter ⚠
- p.Asn605Lys Single submitter ⚠
- p.Asn78Ser Single submitter ⚠
- p.Asp148Val Single submitter ⚠
- p.Asp178Gly Single submitter
- p.Asp349Asn Single submitter ⚠
- p.Asp453Glu Single submitter ⚠
- p.Asp476Asn Single submitter ⚠
- p.Asp483del Single submitter
- p.Asp485Asn Single submitter ⚠
- p.Asp485His Single submitter ⚠
- p.Asp487Val Single submitter ⚠
- p.Asp731Asn Single submitter ⚠
- p.Asp761Tyr Single submitter ⚠
- p.Asp76Val Single submitter ⚠
- p.Cys166Tyr Single submitter ⚠
- p.Cys251Tyr Single submitter ⚠
- p.Gln230Arg Single submitter ⚠
- p.Gln395Pro Single submitter ⚠
- p.Gln658Arg Single submitter ⚠
- p.Gln773= Single submitter
- p.Gln780His Single submitter ⚠
- p.Gln790Ter Single submitter
- p.Glu155Lys Single submitter ⚠
- p.Glu211Asp Single submitter ⚠
- p.Glu434Asp Single submitter ⚠
- p.Glu644Lys Single submitter ⚠
- p.Glu750Lys Single submitter ⚠
- p.Glu752Gln Single submitter ⚠
- p.Glu754Lys Single submitter ⚠
- p.Glu777Gly Single submitter ⚠
- p.Gly325Asp Single submitter ⚠
- p.Gly325Ser Single submitter ⚠
- p.Gly376Arg Single submitter ⚠
- p.Gly576Glu Single submitter ⚠
- p.Gly636Arg Single submitter ⚠
- p.Gly642Arg Single submitter ⚠
- p.Gly794Asp Single submitter ⚠
- p.His165Gln Single submitter ⚠
- p.His165Tyr Single submitter ⚠
- p.His286Gln Single submitter ⚠
- p.His315Arg Single submitter ⚠
- p.His318Asn Single submitter ⚠
- p.His411Arg Single submitter ⚠
- p.His470Gln Single submitter ⚠
- p.His786Arg Single submitter ⚠
- p.Ile133Val Single submitter ⚠
- p.Ile187Leu Single submitter ⚠
- p.Ile248Thr Single submitter ⚠
- p.Ile254Val Single submitter ⚠
- p.Ile306Val Single submitter ⚠
- p.Ile320Met Single submitter ⚠
- p.Ile354Val Single submitter ⚠
- p.Ile467= Single submitter
- p.Ile681Val Single submitter ⚠
- p.Ile776Lys Single submitter
- p.Ile776Thr Single submitter ⚠
- p.Leu102Val Single submitter ⚠
- p.Leu183Pro Single submitter ⚠
- p.Leu324Phe Single submitter ⚠
- p.Leu383Ile Single submitter immunodeficiency 64 ⚠
- p.Leu409Phe Single submitter ⚠
- p.Leu622Pro Single submitter ⚠
- p.Leu664Arg Single submitter ⚠
- p.Leu779His Single submitter
- p.Lys219Arg Single submitter ⚠
- p.Lys461Ile Single submitter ⚠
- p.Lys480Thr Single submitter ⚠
- p.Lys665Glu Single submitter ⚠
- p.Lys721Asn Single submitter immunodeficiency 64 ⚠
- p.Lys726Glu Single submitter ⚠
- p.Lys737Glu Single submitter ⚠
- p.Lys774= Single submitter
- p.Met139Leu Single submitter ⚠
- p.Met139Thr Single submitter ⚠
- p.Met142Val Single submitter ⚠
- p.Met150Val Single submitter ⚠
- p.Met369Arg Single submitter ⚠
- p.Met369Ile Single submitter ⚠
- p.Met509Ile Single submitter ⚠
- p.Met527Ile Single submitter ⚠
- p.Met651Ile Single submitter
- p.Met653Thr Single submitter ⚠
- p.Phe136Leu Single submitter ⚠
- p.Phe218Ile Single submitter ⚠
- p.Phe291Leu Single submitter ⚠
- p.Phe589Ser Single submitter ⚠
- p.Phe589Tyr Single submitter
- p.Pro119Arg Single submitter ⚠
- p.Pro119Ser Single submitter ⚠
- p.Pro14Leu Single submitter ⚠
- p.Pro268Leu Single submitter ⚠
- p.Pro317Ala Single submitter ⚠
- p.Pro435Gln Single submitter ⚠
- p.Pro441Ser Single submitter immunodeficiency 64 ⚠
- p.Pro462Leu Single submitter immunodeficiency 64
- p.Pro630Ser Single submitter ⚠
- p.Pro689Leu Single submitter ⚠
- p.Pro709His Single submitter ⚠
- p.Pro712Thr Single submitter ⚠
- p.Ser180Cys Single submitter ⚠
- p.Ser192Gly Single submitter ⚠
- p.Ser198Cys Single submitter ⚠
- p.Ser225Pro Single submitter
- p.Ser227Cys Single submitter ⚠
- p.Ser22Phe Single submitter ⚠
- p.Ser307Leu Single submitter
- p.Ser314Leu Single submitter ⚠
- p.Ser334del Single submitter immunodeficiency 64
- p.Ser33Ile Single submitter ⚠
- p.Ser391Ile Single submitter ⚠
- p.Ser391Thr Single submitter ⚠
- p.Ser468Gly Single submitter ⚠
- p.Ser468Thr Single submitter ⚠
- p.Ser531Ter Single submitter immunodeficiency 64
- p.Ser607Phe Single submitter ⚠
- p.Ser612Thr Single submitter ⚠
- p.Ser645Asn Single submitter ⚠
- p.Ser715Gly Single submitter ⚠
- p.Ser732Pro Single submitter ⚠
- p.Ser82Asn Single submitter ⚠
- p.Thr171Ile Single submitter ⚠
- p.Thr267Met Single submitter ⚠
- p.Thr414= Single submitter
- p.Thr414Met Single submitter
- p.Thr547Ala Single submitter ⚠
- p.Thr548Asn Single submitter ⚠
- p.Thr606Ile Single submitter ⚠
- p.Thr702Ala Single submitter ⚠
- p.Thr702Ile Single submitter ⚠
- p.Tyr366Cys Single submitter ⚠
- p.Tyr427His Single submitter ⚠
- p.Tyr431His Single submitter ⚠
- p.Tyr549Phe Single submitter
- p.Tyr570Cys Single submitter ⚠
- p.Val129Ala Single submitter ⚠
- p.Val234Ala Single submitter ⚠
- p.Val238Met Single submitter ⚠
- p.Val475Leu Single submitter ⚠
- p.Val51Leu Single submitter ⚠
- p.Val51Met Single submitter ⚠
- p.Val587Ala Single submitter ⚠
- p.Val611Leu Single submitter ⚠
- p.Val611Met Single submitter ⚠
- p.Val655Met Single submitter ⚠
- p.Val691Ala Single submitter ⚠
- p.Val705Leu Single submitter ⚠
- c.221-16458_221-16419del No assertion criteria schizophrenia