GRIN3B — 266 ClinVar variants
All ClinVar germline GRIN3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →
1 Conflicting · 7 Benign · 10 Likely benign · 248 Uncertain significance
Full GRIN3B 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 173
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 173
- GRIN3B p.Ala1025Gly Uncertain significance Single submitter
- GRIN3B p.Ala1027Val Uncertain significance Single submitter
- GRIN3B p.Ala1028Thr Uncertain significance Single submitter
- GRIN3B p.Ala141Val Uncertain significance Single submitter
- GRIN3B p.Ala164Val Uncertain significance Single submitter
- GRIN3B p.Ala223Val Uncertain significance Single submitter
- GRIN3B p.Ala224Gly Uncertain significance Single submitter
- GRIN3B p.Ala224Val Uncertain significance Single submitter
- GRIN3B p.Ala292Thr Uncertain significance Single submitter
- GRIN3B p.Ala319Val Uncertain significance Single submitter
- GRIN3B p.Ala380Thr Uncertain significance Single submitter
- GRIN3B p.Ala380Val Uncertain significance Single submitter
- GRIN3B p.Ala403Val Uncertain significance Single submitter
- GRIN3B p.Ala461Thr Uncertain significance Single submitter
- GRIN3B p.Ala507Thr Uncertain significance Single submitter
- GRIN3B p.Ala55Val Uncertain significance Single submitter
- GRIN3B p.Ala583Glu Uncertain significance Single submitter
- GRIN3B p.Ala583Val Uncertain significance Single submitter
- GRIN3B p.Ala722Val Uncertain significance Single submitter
- GRIN3B p.Ala769Thr Uncertain significance Single submitter
- GRIN3B p.Ala85Thr Uncertain significance Single submitter
- GRIN3B p.Ala882Ser Uncertain significance Single submitter
- GRIN3B p.Ala917Thr Uncertain significance Single submitter
- GRIN3B p.Ala924Thr Uncertain significance Single submitter
- GRIN3B p.Ala952Gly Uncertain significance Single submitter
- GRIN3B p.Ala972Thr Uncertain significance Single submitter
- GRIN3B p.Arg1003Gln Uncertain significance Single submitter
- GRIN3B p.Arg1016His Uncertain significance Single submitter
- GRIN3B p.Arg1016Pro Uncertain significance Single submitter
- GRIN3B p.Arg1021His Uncertain significance Single submitter
- GRIN3B p.Arg110Leu Uncertain significance Single submitter
- GRIN3B p.Arg132Leu Uncertain significance Single submitter
- GRIN3B p.Arg197Trp Uncertain significance Single submitter
- GRIN3B p.Arg207Trp Uncertain significance Single submitter
- GRIN3B p.Arg208Gly Uncertain significance Single submitter
- GRIN3B p.Arg208Trp Uncertain significance Single submitter
- GRIN3B p.Arg244Cys Uncertain significance Single submitter
- GRIN3B p.Arg302Gln Uncertain significance Single submitter
- GRIN3B p.Arg340Gln Uncertain significance Single submitter
- GRIN3B p.Arg374His Uncertain significance Single submitter
- GRIN3B p.Arg375Trp Uncertain significance Single submitter
- GRIN3B p.Arg378Gln Uncertain significance Single submitter
- GRIN3B p.Arg378Trp Uncertain significance Single submitter
- GRIN3B p.Arg390Trp Uncertain significance Single submitter
- GRIN3B p.Arg470His Uncertain significance Single submitter
- GRIN3B p.Arg486Gln Uncertain significance Single submitter
- GRIN3B p.Arg509Gln Uncertain significance Single submitter
- GRIN3B p.Arg524Gln Uncertain significance Single submitter
- GRIN3B p.Arg538His Uncertain significance Single submitter
- GRIN3B p.Arg560Gln Uncertain significance Single submitter
- GRIN3B p.Arg59Gln Uncertain significance Single submitter
- GRIN3B p.Arg606Cys Uncertain significance Single submitter
- GRIN3B p.Arg606His Uncertain significance Single submitter
- GRIN3B p.Arg606Leu Uncertain significance Single submitter
- GRIN3B p.Arg630His Uncertain significance Single submitter
- GRIN3B p.Arg82His Uncertain significance Single submitter
- GRIN3B p.Arg89Gly Uncertain significance Single submitter
- GRIN3B p.Arg923Gly Uncertain significance Single submitter
- GRIN3B p.Arg923Trp Uncertain significance Single submitter
- GRIN3B p.Arg926Gln Uncertain significance Single submitter
- GRIN3B p.Arg926Trp Uncertain significance Single submitter
- GRIN3B p.Arg968His Uncertain significance Single submitter
- GRIN3B p.Asp173Asn Uncertain significance Single submitter
- GRIN3B p.Asp325Gly Uncertain significance Single submitter
- GRIN3B p.Asp391Ala Uncertain significance Single submitter
- GRIN3B p.Asp391Gly Uncertain significance Single submitter
- GRIN3B p.Asp682Asn Uncertain significance Single submitter
- GRIN3B p.Asp735Glu Uncertain significance Single submitter
- GRIN3B p.Cys445Gly Uncertain significance Single submitter
- GRIN3B p.Gln298Arg Uncertain significance Single submitter
- GRIN3B p.Gln540Glu Uncertain significance Single submitter
- GRIN3B p.Gln912Glu Uncertain significance Single submitter
- GRIN3B p.Glu172Gln Uncertain significance Single submitter
- GRIN3B p.Glu250Gln Uncertain significance Single submitter
- GRIN3B p.Glu435Lys Uncertain significance Single submitter
- GRIN3B p.Glu496Lys Uncertain significance Single submitter
- GRIN3B p.Glu789Lys Uncertain significance Single submitter
- GRIN3B p.Glu886Asp Uncertain significance Single submitter
- GRIN3B p.Glu886Lys Uncertain significance Single submitter
- GRIN3B p.Glu897Gln Uncertain significance Single submitter
- GRIN3B p.Glu919Asp Uncertain significance Single submitter
- GRIN3B p.Glu947Ala Uncertain significance Single submitter
- GRIN3B p.Gly1040Ala Uncertain significance Single submitter
- GRIN3B p.Gly1040Glu Uncertain significance Single submitter
- GRIN3B p.Gly21Arg Uncertain significance Single submitter
- GRIN3B p.Gly227Glu Uncertain significance Single submitter
- GRIN3B p.Gly22Ser Uncertain significance Single submitter
- GRIN3B p.Gly305Asp Uncertain significance Single submitter
- GRIN3B p.Gly324Arg Uncertain significance Single submitter
- GRIN3B p.Gly330Arg Uncertain significance Single submitter
- GRIN3B p.Gly506Asp Uncertain significance Single submitter
- GRIN3B p.Gly670Arg Uncertain significance Single submitter
- GRIN3B p.Gly695Arg Uncertain significance Single submitter
- GRIN3B p.Gly728Ser Uncertain significance Single submitter
- GRIN3B p.Gly776Arg Uncertain significance Single submitter
- GRIN3B p.Gly798Asp Uncertain significance Single submitter
- GRIN3B p.Gly890Glu Uncertain significance Single submitter
- GRIN3B p.Gly920Asp Uncertain significance Single submitter
- GRIN3B p.Gly920Cys Uncertain significance Single submitter
- GRIN3B p.His117Leu Uncertain significance Single submitter
- GRIN3B p.His169Gln Uncertain significance Single submitter
- GRIN3B p.His425Tyr Uncertain significance Single submitter
- GRIN3B p.His686Gln Uncertain significance Single submitter
- GRIN3B p.His874Tyr Uncertain significance Single submitter
- GRIN3B p.Ile293Val Uncertain significance Single submitter
- GRIN3B p.Ile481Val Uncertain significance Single submitter
- GRIN3B p.Ile566Met Uncertain significance Single submitter
- GRIN3B p.Ile706Val Uncertain significance Single submitter
- GRIN3B p.Ile775Thr Uncertain significance Single submitter
- GRIN3B p.Leu114Pro Uncertain significance Single submitter
- GRIN3B p.Leu289Arg Uncertain significance Single submitter
- GRIN3B p.Leu30Val Uncertain significance Single submitter
- GRIN3B p.Leu573Pro Uncertain significance Single submitter
- GRIN3B p.Leu62Pro Uncertain significance Single submitter
- GRIN3B p.Leu70Val Uncertain significance Single submitter
- GRIN3B p.Leu732Arg Uncertain significance Single submitter
- GRIN3B p.Leu739Phe Uncertain significance Single submitter
- GRIN3B p.Leu748Val Uncertain significance Single submitter
- GRIN3B p.Leu762Arg Uncertain significance Single submitter
- GRIN3B p.Leu803His Uncertain significance Single submitter
- GRIN3B p.Lys815Asn Uncertain significance Single submitter
- GRIN3B p.Lys865Thr Uncertain significance Single submitter
- GRIN3B p.Met646Val Uncertain significance Single submitter
- GRIN3B p.Phe3Cys Uncertain significance Single submitter
- GRIN3B p.Phe569Leu Uncertain significance Single submitter
- GRIN3B p.Pro144Ala Uncertain significance Single submitter
- GRIN3B p.Pro221Leu Uncertain significance Single submitter
- GRIN3B p.Pro231Leu Uncertain significance Single submitter
- GRIN3B p.Pro265Leu Uncertain significance Single submitter
- GRIN3B p.Pro276Ser Uncertain significance Single submitter
- GRIN3B p.Pro312Leu Uncertain significance Single submitter
- GRIN3B p.Pro328Leu Uncertain significance Single submitter
- GRIN3B p.Pro398Leu Uncertain significance Single submitter
- GRIN3B p.Pro406Leu Uncertain significance Single submitter
- GRIN3B p.Pro565Thr Uncertain significance Single submitter
- GRIN3B p.Pro67Ala Uncertain significance Single submitter
- GRIN3B p.Pro812Ser Uncertain significance Single submitter
- GRIN3B p.Pro888Ser Uncertain significance Single submitter
- GRIN3B p.Pro918Leu Uncertain significance Single submitter
- GRIN3B p.Pro940Ser Uncertain significance Single submitter
- GRIN3B p.Pro978Leu Uncertain significance Single submitter
- GRIN3B p.Ser346Thr Uncertain significance Single submitter
- GRIN3B p.Ser533Gly Uncertain significance Single submitter
- GRIN3B p.Ser618Leu Uncertain significance Single submitter
- GRIN3B p.Ser734Arg Uncertain significance Single submitter
- GRIN3B p.Ser788Cys Uncertain significance Single submitter
- GRIN3B p.Ser796Phe Uncertain significance Single submitter
- GRIN3B p.Ser849Leu Uncertain significance Single submitter
- GRIN3B p.Ser867Gly Uncertain significance Single submitter
- GRIN3B p.Thr123Ala Uncertain significance Single submitter
Predictors split 65
The independent predictors disagree with each other — read with care.
- GRIN3B p.Ala12Glu Uncertain significance Single submitter
- GRIN3B p.Ala307Val Uncertain significance Single submitter
- GRIN3B p.Ala462Val Uncertain significance Single submitter
- GRIN3B p.Ala568Thr Uncertain significance Single submitter
- GRIN3B p.Ala625Thr Uncertain significance Single submitter
- GRIN3B p.Ala702Asp Uncertain significance Single submitter
- GRIN3B p.Ala722Pro Uncertain significance Single submitter
- GRIN3B p.Arg1003Trp Uncertain significance Single submitter
- GRIN3B p.Arg194Trp Uncertain significance Single submitter
- GRIN3B p.Arg216Trp Likely benign Single submitter
- GRIN3B p.Arg336Cys Uncertain significance Single submitter
- GRIN3B p.Arg340Trp Uncertain significance Single submitter
- GRIN3B p.Arg366Trp Uncertain significance Single submitter
- GRIN3B p.Arg374Cys Uncertain significance Single submitter
- GRIN3B p.Arg431Cys Uncertain significance Single submitter
- GRIN3B p.Arg50Cys Uncertain significance Single submitter
- GRIN3B p.Arg512Cys Uncertain significance Single submitter
- GRIN3B p.Arg560Trp Uncertain significance Single submitter
- GRIN3B p.Arg610Cys Uncertain significance Single submitter
- GRIN3B p.Arg643His Uncertain significance Single submitter
- GRIN3B p.Arg719Cys Uncertain significance Single submitter
- GRIN3B p.Arg857Gly Uncertain significance Single submitter
- GRIN3B p.Arg998Cys Uncertain significance Single submitter
- GRIN3B p.Asn69Lys Uncertain significance Single submitter
- GRIN3B p.Asp452Asn Uncertain significance Single submitter
- GRIN3B p.Cys27Ser Uncertain significance Single submitter
- GRIN3B p.Glu283Lys Uncertain significance Single submitter
- GRIN3B p.Gly239Ser Uncertain significance Single submitter
- GRIN3B p.Gly255Ser Uncertain significance Single submitter
- GRIN3B p.Gly392Ser Uncertain significance Single submitter
- GRIN3B p.Gly503Ser Uncertain significance Single submitter
- GRIN3B p.Gly511Ser Uncertain significance Single submitter
- GRIN3B p.Gly567Arg Uncertain significance Single submitter
- GRIN3B p.Gly851Arg Uncertain significance Single submitter
- GRIN3B p.His526Tyr Uncertain significance Single submitter
- GRIN3B p.Leu139Ile Uncertain significance Single submitter
- GRIN3B p.Leu147Val Uncertain significance Single submitter
- GRIN3B p.Leu159Pro Uncertain significance Single submitter
- GRIN3B p.Leu87Met Uncertain significance Single submitter
- GRIN3B p.Met646Ile Uncertain significance Single submitter
- GRIN3B p.Phe495Leu Uncertain significance Single submitter
- GRIN3B p.Phe710Leu Uncertain significance Single submitter
- GRIN3B p.Pro287His Uncertain significance Single submitter
- GRIN3B p.Pro288Leu Uncertain significance Single submitter
- GRIN3B p.Pro381Leu Uncertain significance Single submitter
- GRIN3B p.Pro448Arg Uncertain significance Single submitter
- GRIN3B p.Pro44Ser Uncertain significance Single submitter
- GRIN3B p.Pro688Leu Uncertain significance Single submitter
- GRIN3B p.Pro726Leu Uncertain significance Single submitter
- GRIN3B p.Pro736Ala Uncertain significance Single submitter
- GRIN3B p.Pro736Thr Uncertain significance Single submitter
- GRIN3B p.Pro737His Likely benign Single submitter
- GRIN3B p.Pro778Leu Uncertain significance Single submitter
- GRIN3B p.Pro79Leu Uncertain significance Single submitter
- GRIN3B p.Ser467Leu Uncertain significance Single submitter
- GRIN3B p.Ser546Gly Uncertain significance Single submitter
- GRIN3B p.Ser576Tyr Uncertain significance Single submitter
- GRIN3B p.Ser700Asn Uncertain significance Single submitter
- GRIN3B p.Ser71Ile Uncertain significance Single submitter
- GRIN3B p.Ser797Cys Uncertain significance Single submitter
- GRIN3B p.Thr345Met Uncertain significance Single submitter
- GRIN3B p.Thr661Ala Uncertain significance Single submitter
- GRIN3B p.Val297Met Uncertain significance Single submitter
- GRIN3B p.Val697Leu Uncertain significance Single submitter
- GRIN3B p.Val729Ala Uncertain significance Single submitter
All GRIN3B variants
Conflicting classifications of pathogenicity 1
- p.Gln327Pro Single submitter ⚠
Benign 7
- c.-17A>G Multiple submitters
- p.Ala403= Multiple submitters
- p.Glu852Lys Multiple submitters
- p.His117Tyr Multiple submitters
- p.Pro1039Arg Multiple submitters
- p.Thr562= Multiple submitters
- p.Thr577Met Multiple submitters
Likely benign 10
- p.Ala971= Single submitter
- p.Arg208Gln Single submitter
- p.Arg216Gln Single submitter
- p.Arg216Trp Single submitter ⚠
- p.Arg989His Single submitter
- p.Asp457= Single submitter
- p.Gly449Ser Single submitter
- p.Pro737His Single submitter ⚠
- p.Pro80= Single submitter
- p.Ser901= Single submitter
Uncertain significance 248
- p.Ala1025Gly Single submitter ⚠
- p.Ala1027Val Single submitter ⚠
- p.Ala1028Thr Single submitter ⚠
- p.Ala12Glu Single submitter ⚠
- p.Ala141Val Single submitter ⚠
- p.Ala164Val Single submitter ⚠
- p.Ala223Val Single submitter ⚠
- p.Ala224Gly Single submitter ⚠
- p.Ala224Val Single submitter ⚠
- p.Ala292Thr Single submitter ⚠
- p.Ala307Val Single submitter ⚠
- p.Ala319Val Single submitter ⚠
- p.Ala380Thr Single submitter ⚠
- p.Ala380Val Single submitter ⚠
- p.Ala403Val Single submitter ⚠
- p.Ala461Thr Single submitter ⚠
- p.Ala462Val Single submitter ⚠
- p.Ala507Thr Single submitter ⚠
- p.Ala528Val Single submitter
- p.Ala55Val Single submitter ⚠
- p.Ala568Thr Single submitter ⚠
- p.Ala583Glu Single submitter ⚠
- p.Ala583Val Single submitter ⚠
- p.Ala589Val Single submitter
- p.Ala625Thr Single submitter ⚠
- p.Ala702Asp Single submitter ⚠
- p.Ala722Pro Single submitter ⚠
- p.Ala722Val Single submitter ⚠
- p.Ala741Val Single submitter
- p.Ala769Thr Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Ala882Ser Single submitter ⚠
- p.Ala917Thr Single submitter ⚠
- p.Ala924Thr Single submitter ⚠
- p.Ala952Gly Single submitter ⚠
- p.Ala972Thr Single submitter ⚠
- p.Arg1003Gln Single submitter ⚠
- p.Arg1003Trp Single submitter ⚠
- p.Arg1016His Single submitter ⚠
- p.Arg1016Pro Single submitter ⚠
- p.Arg1021His Single submitter ⚠
- p.Arg110Leu Single submitter ⚠
- p.Arg132Leu Single submitter ⚠
- p.Arg194Trp Single submitter ⚠
- p.Arg197Trp Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg208Gly Single submitter ⚠
- p.Arg208Trp Single submitter ⚠
- p.Arg244Cys Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Arg336Cys Single submitter ⚠
- p.Arg340Gln Single submitter ⚠
- p.Arg340Trp Single submitter ⚠
- p.Arg366Trp Single submitter ⚠
- p.Arg374Cys Single submitter ⚠
- p.Arg374His Single submitter ⚠
- p.Arg375Trp Single submitter ⚠
- p.Arg378Gln Single submitter ⚠
- p.Arg378Trp Single submitter ⚠
- p.Arg390Trp Single submitter ⚠
- p.Arg431Cys Single submitter ⚠
- p.Arg470His Single submitter ⚠
- p.Arg486Gln Single submitter ⚠
- p.Arg509Gln Single submitter ⚠
- p.Arg50Cys Single submitter ⚠
- p.Arg512Cys Single submitter ⚠
- p.Arg524Gln Single submitter ⚠
- p.Arg538His Single submitter ⚠
- p.Arg558Trp Single submitter
- p.Arg560Gln Single submitter ⚠
- p.Arg560Trp Single submitter ⚠
- p.Arg59Gln Single submitter ⚠
- p.Arg606Cys Single submitter ⚠
- p.Arg606His Single submitter ⚠
- p.Arg606Leu Single submitter ⚠
- p.Arg610Cys Single submitter ⚠
- p.Arg630His Single submitter ⚠
- p.Arg643His Single submitter ⚠
- p.Arg719Cys Single submitter ⚠
- p.Arg82His Single submitter ⚠
- p.Arg857Gly Single submitter ⚠
- p.Arg89Gly Single submitter ⚠
- p.Arg923Gly Single submitter ⚠
- p.Arg923Trp Single submitter ⚠
- p.Arg926Gln Single submitter ⚠
- p.Arg926Trp Single submitter ⚠
- p.Arg968His Single submitter ⚠
- p.Arg998Cys Single submitter ⚠
- p.Asn69Lys Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Asp325Gly Single submitter ⚠
- p.Asp391Ala Single submitter ⚠
- p.Asp391Gly Single submitter ⚠
- p.Asp452Asn Single submitter ⚠
- p.Asp682Asn Single submitter ⚠
- p.Asp735Glu Single submitter ⚠
- p.Asp805Gly Single submitter
- p.Cys27Ser Single submitter ⚠
- p.Cys445Gly Single submitter ⚠
- p.Gln298Arg Single submitter ⚠
- p.Gln540Glu Single submitter ⚠
- p.Gln912Glu Single submitter ⚠
- p.Glu172Gln Single submitter ⚠
- p.Glu250Gln Single submitter ⚠
- p.Glu283Lys Single submitter ⚠
- p.Glu435Lys Single submitter ⚠
- p.Glu496Lys Single submitter ⚠
- p.Glu789Lys Single submitter ⚠
- p.Glu886Asp Single submitter ⚠
- p.Glu886Lys Single submitter ⚠
- p.Glu897Gln Single submitter ⚠
- p.Glu919Asp Single submitter ⚠
- p.Glu947Ala Single submitter ⚠
- p.Gly1040Ala Single submitter ⚠
- p.Gly1040Glu Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly227Glu Single submitter ⚠
- p.Gly22Ser Single submitter ⚠
- p.Gly239Ser Single submitter ⚠
- p.Gly255Ser Single submitter ⚠
- p.Gly305Asp Single submitter ⚠
- p.Gly324Arg Single submitter ⚠
- p.Gly330Arg Single submitter ⚠
- p.Gly392Ser Single submitter ⚠
- p.Gly501Asp Single submitter
- p.Gly503Ser Single submitter ⚠
- p.Gly506Asp Single submitter ⚠
- p.Gly511Ser Single submitter ⚠
- p.Gly567Arg Single submitter ⚠
- p.Gly670Arg Single submitter ⚠
- p.Gly695Arg Single submitter ⚠
- p.Gly728Ser Single submitter ⚠
- p.Gly776Arg Single submitter ⚠
- p.Gly798Asp Single submitter ⚠
- p.Gly851Arg Single submitter ⚠
- p.Gly890Glu Single submitter ⚠
- p.Gly920Asp Single submitter ⚠
- p.Gly920Cys Single submitter ⚠
- p.His117Leu Single submitter ⚠
- p.His169Gln Single submitter ⚠
- p.His425Tyr Single submitter ⚠
- p.His526Tyr Single submitter ⚠
- p.His686Gln Single submitter ⚠
- p.His874Tyr Single submitter ⚠
- p.Ile293Val Single submitter ⚠
- p.Ile481Val Single submitter ⚠
- p.Ile566Met Single submitter ⚠
- p.Ile706Val Single submitter ⚠
- p.Ile775Thr Single submitter ⚠
- p.Leu114Pro Single submitter ⚠
- p.Leu139Ile Single submitter ⚠
- p.Leu147Val Single submitter ⚠
- p.Leu159Pro Single submitter ⚠
- p.Leu289Arg Single submitter ⚠
- p.Leu30Val Single submitter ⚠
- p.Leu573Pro Single submitter ⚠
- p.Leu592Phe Single submitter
- p.Leu62Pro Single submitter ⚠
- p.Leu70Val Single submitter ⚠
- p.Leu732Arg Single submitter ⚠
- p.Leu739Phe Single submitter ⚠
- p.Leu748Val Single submitter ⚠
- p.Leu762Arg Single submitter ⚠
- p.Leu803His Single submitter ⚠
- p.Leu87Met Single submitter ⚠
- p.Lys815Asn Single submitter ⚠
- p.Lys865Thr Single submitter ⚠
- p.Met646Ile Single submitter ⚠
- p.Met646Val Single submitter ⚠
- p.Phe3Cys Single submitter ⚠
- p.Phe495Leu Single submitter ⚠
- p.Phe569Leu Single submitter ⚠
- p.Phe710Leu Single submitter ⚠
- p.Pro144Ala Single submitter ⚠
- p.Pro221Leu Single submitter ⚠
- p.Pro231Leu Single submitter ⚠
- p.Pro265Leu Single submitter ⚠
- p.Pro276Ser Single submitter ⚠
- p.Pro287His Single submitter ⚠
- p.Pro288Leu Single submitter ⚠
- p.Pro312Leu Single submitter ⚠
- p.Pro328Leu Single submitter ⚠
- p.Pro381Leu Single submitter ⚠
- p.Pro398Leu Single submitter ⚠
- p.Pro406Leu Single submitter ⚠
- p.Pro448Arg Single submitter ⚠
- p.Pro44Ser Single submitter ⚠
- p.Pro565Thr Single submitter ⚠
- p.Pro600His Single submitter
- p.Pro600Thr Single submitter
- p.Pro67Ala Single submitter ⚠
- p.Pro688Leu Single submitter ⚠
- p.Pro726Leu Single submitter ⚠
- p.Pro736Ala Single submitter ⚠
- p.Pro736Thr Single submitter ⚠
- p.Pro778Leu Single submitter ⚠
- p.Pro778Thr Single submitter
- p.Pro79Leu Single submitter ⚠
- p.Pro812Ser Single submitter ⚠
- p.Pro888Ser Single submitter ⚠
- p.Pro918Leu Single submitter ⚠
- p.Pro940Ser Single submitter ⚠
- p.Pro978Leu Single submitter ⚠
- p.Ser346Thr Single submitter ⚠
- p.Ser467Leu Single submitter ⚠
- p.Ser533Gly Single submitter ⚠
- p.Ser546Gly Single submitter ⚠
- p.Ser576Tyr Single submitter ⚠
- p.Ser618Leu Single submitter ⚠
- p.Ser659Asn Single submitter
- p.Ser700Asn Single submitter ⚠
- p.Ser71Ile Single submitter ⚠
- p.Ser734Arg Single submitter ⚠
- p.Ser788Cys Single submitter ⚠
- p.Ser796Phe Single submitter ⚠
- p.Ser797Cys Single submitter ⚠
- p.Ser849Leu Single submitter ⚠
- p.Ser867Gly Single submitter ⚠
- p.Thr123Ala Single submitter ⚠
- p.Thr345Met Single submitter ⚠
- p.Thr455Ile Single submitter ⚠
- p.Thr604Met Single submitter neurodevelopmental disorder ⚠
- p.Thr612Ile Single submitter ⚠
- p.Thr641Met Single submitter ⚠
- p.Thr661Ala Single submitter ⚠
- p.Thr725Ala Single submitter ⚠
- p.Trp171Cys Single submitter ⚠
- p.Trp371Cys Single submitter ⚠
- p.Trp513Arg Single submitter ⚠
- p.Trp597Gly Single submitter
- p.Tyr479Cys Single submitter ⚠
- p.Tyr616Cys Single submitter ⚠
- p.Tyr705Cys Single submitter neurodevelopmental disorder ⚠
- p.Tyr808Phe Single submitter ⚠
- p.Val127Met Single submitter ⚠
- p.Val174Leu Single submitter ⚠
- p.Val188Ala Single submitter ⚠
- p.Val252Ile Single submitter ⚠
- p.Val297Met Single submitter ⚠
- p.Val354Met Single submitter ⚠
- p.Val517Ile Single submitter ⚠
- p.Val632Met Single submitter ⚠
- p.Val697Leu Single submitter ⚠
- p.Val729Ala Single submitter ⚠
- p.Val817Ile Single submitter ⚠
- p.Val905Glu Single submitter ⚠
- p.Val934Leu Single submitter ⚠
- p.Val961Ile Single submitter ⚠