RIN2 — 667 ClinVar variants
All ClinVar germline RIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 288 flagged for review →
11 Pathogenic · 6 Likely pathogenic · 18 Conflicting · 43 Benign · 18 Benign/Likely benign · 257 Likely benign · 314 Uncertain significance
Full RIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 288
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 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RIN2 p.Arg14Gln
Conflicting
Single submitter
Inborn genetic diseases
-
RIN2 p.Arg381Trp
Conflicting
Single submitter
Inborn genetic diseases
-
RIN2 p.Glu202Lys
Conflicting
Single submitter
Inborn genetic diseases
-
RIN2 p.Glu754Lys
Conflicting
Single submitter
Inborn genetic diseases
-
RIN2 p.Gly10Ser
Conflicting
Single submitter
RIN2 syndrome
-
RIN2 p.Pro335Arg
Conflicting
Single submitter
Inborn genetic diseases
-
RIN2 p.Pro349Ser
Conflicting
Single submitter
Inborn genetic diseases
- RIN2 p.Pro476Arg Conflicting Single submitter
-
RIN2 p.Ser232Phe
Conflicting
Single submitter
Inborn genetic diseases
- RIN2 p.Ser26Leu Conflicting Single submitter
- RIN2 p.Tyr834Phe Conflicting Single submitter
-
RIN2 p.Val548Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 226
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 226
-
RIN2 p.Ala205Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Ala72Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Ala8Thr Uncertain significance Multiple submitters
-
RIN2 p.Arg135Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg170Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg290Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg303Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg446Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg516Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg73Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg73Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg779Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg83Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg875Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg89Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg9Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Asn297Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Asp431Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Asp445Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Asp67Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Asp879Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Asp879Glu Uncertain significance Multiple submitters
-
RIN2 p.Asp891Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Gln541Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Gln886Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Glu146Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Glu797Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Gly160Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Gly350Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Gly380Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Gly406Glu Uncertain significance Multiple submitters
-
RIN2 p.Gly888Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.His122Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.His227Pro Uncertain significance Multiple submitters
-
RIN2 p.His340Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.His731Arg Uncertain significance Multiple submitters
-
RIN2 p.Ile876Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Leu223Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Leu492Phe Uncertain significance Multiple submitters
-
RIN2 p.Lys196Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Lys491Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Lys622Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Met448Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Pro115Leu Uncertain significance Multiple submitters
-
RIN2 p.Pro183Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Pro221Gln Uncertain significance Multiple submitters
-
RIN2 p.Pro308Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Pro312Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Pro396Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Ser281Thr Uncertain significance Multiple submitters
-
RIN2 p.Ser79Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Ser800Cys
Uncertain significance
Multiple submitters
RIN2 syndrome
-
RIN2 p.Thr23Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Thr321Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Thr332Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Thr351Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Thr376Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Thr509Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Thr683Met Uncertain significance Multiple submitters
-
RIN2 p.Val235Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Val279Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Val36Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Val40Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Val55Gly Uncertain significance Multiple submitters
- RIN2 p.Val607Met Uncertain significance Multiple submitters
-
RIN2 p.Val840Ile
Uncertain significance
Multiple submitters
RIN2 syndrome
- RIN2 p.Ala113Asp Uncertain significance Single submitter
- RIN2 p.Ala113Val Uncertain significance Single submitter
- RIN2 p.Ala315Ser Uncertain significance Single submitter
- RIN2 p.Ala347Asp Uncertain significance Single submitter
- RIN2 p.Ala365Asp Uncertain significance Single submitter
-
RIN2 p.Ala393Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Ala393Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Ala411Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Ala411Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Ala474Glu Uncertain significance Single submitter
-
RIN2 p.Ala741Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Arg170Gln Uncertain significance Single submitter
- RIN2 p.Arg241Pro Uncertain significance Single submitter
- RIN2 p.Arg290Pro Uncertain significance Single submitter
-
RIN2 p.Arg290Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Arg294Gly Uncertain significance Single submitter
-
RIN2 p.Arg305Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Arg324Trp Uncertain significance Single submitter
- RIN2 p.Arg37Gln Uncertain significance Single submitter
- RIN2 p.Arg37Gly Uncertain significance Single submitter
-
RIN2 p.Arg381Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Arg419Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Arg426Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Arg523Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Arg632Gln Uncertain significance Single submitter
-
RIN2 p.Arg676Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Arg83Ser Uncertain significance Single submitter
-
RIN2 p.Arg9His
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Asn273Ser Uncertain significance Single submitter
-
RIN2 p.Asn317Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Asn339Lys Uncertain significance Single submitter
-
RIN2 p.Asn345Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Asn635Ser Uncertain significance Single submitter
-
RIN2 p.Asn82Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Asn878Lys Uncertain significance Single submitter
- RIN2 p.Asn878Ser Uncertain significance Single submitter
- RIN2 p.Asp233His Uncertain significance Single submitter
- RIN2 p.Asp233Tyr Uncertain significance Single submitter
- RIN2 p.Asp407Tyr Uncertain significance Single submitter
- RIN2 p.Asp445Gly Uncertain significance Single submitter
- RIN2 p.Asp524Asn Uncertain significance Single submitter
-
RIN2 p.Asp830Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Asp841Asn Uncertain significance Single submitter
- RIN2 p.Cys176Tyr Uncertain significance Single submitter
-
RIN2 p.Cys71Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Gln264Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Gln33Arg Uncertain significance Single submitter
-
RIN2 p.Gln364Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Gln470Glu Uncertain significance Single submitter
-
RIN2 p.Glu336Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Glu34Lys Uncertain significance Single submitter
-
RIN2 p.Glu369Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Glu371Gln Uncertain significance Single submitter
- RIN2 p.Glu387Lys Uncertain significance Single submitter
- RIN2 p.Glu417Asp Uncertain significance Single submitter
- RIN2 p.Glu467Gln Uncertain significance Single submitter
- RIN2 p.Glu64Lys Uncertain significance Single submitter
-
RIN2 p.Glu816Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Glu842Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Glu889Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Gly234Ser Uncertain significance Single submitter
- RIN2 p.Gly350Arg Uncertain significance Single submitter
-
RIN2 p.Gly373Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Gly379Arg Uncertain significance Single submitter
- RIN2 p.Gly379Asp Uncertain significance Single submitter
- RIN2 p.Gly379Ser Uncertain significance Single submitter
-
RIN2 p.Gly397Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Gly406Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Gly406Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Gly424Arg Uncertain significance Single submitter
-
RIN2 p.Gly466Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Gly605Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Gly829Arg Uncertain significance Single submitter
- RIN2 p.Gly888Glu Uncertain significance Single submitter
- RIN2 p.His227Arg Uncertain significance Single submitter
-
RIN2 p.His340Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.His731Tyr Uncertain significance Single submitter
- RIN2 p.Ile149Met Uncertain significance Single submitter
- RIN2 p.Ile748Val Uncertain significance Single submitter
- RIN2 p.Ile868Val Uncertain significance Single submitter
-
RIN2 p.Ile884Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Ile884Val Uncertain significance Single submitter
-
RIN2 p.Leu111Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Leu230Pro Uncertain significance Single submitter
Predictors split 50
The independent predictors disagree with each other — read with care.
-
RIN2 p.Arg255Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Arg774Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Asn266Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Asp697Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Glu584Gly Uncertain significance Multiple submitters
-
RIN2 p.Gly267Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Gly29Arg
Benign
Multiple submitters
RIN2 syndrome
-
RIN2 p.Pro308Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Pro308Gln
Uncertain significance
Multiple submitters
RIN2 syndrome
-
RIN2 p.Pro308Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Pro577Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIN2 p.Ser197Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIN2 p.Thr93Ala Uncertain significance Multiple submitters
- RIN2 p.Ala166Gly Uncertain significance Single submitter
- RIN2 p.Ala166Thr Uncertain significance Single submitter
-
RIN2 p.Ala519Pro
Uncertain significance
Single submitter
RIN2 syndrome
-
RIN2 p.Ala823Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Ala858Thr Uncertain significance Single submitter
-
RIN2 p.Arg135His
Conflicting
Single submitter
Inborn genetic diseases
- RIN2 p.Arg179Thr Uncertain significance Single submitter
-
RIN2 p.Arg310Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Arg360Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Arg428Leu Uncertain significance Single submitter
-
RIN2 p.Arg428Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Arg632Trp Uncertain significance Single submitter
- RIN2 p.Arg89Gly Uncertain significance Single submitter
-
RIN2 p.Asp74Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Gly15Arg Uncertain significance Single submitter
- RIN2 p.Ile172Met Uncertain significance Single submitter
-
RIN2 p.Ile96Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Ile96Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Leu87Trp Uncertain significance Single submitter
- RIN2 p.Leu91Phe Uncertain significance Single submitter
- RIN2 p.Lys565Asn Uncertain significance Single submitter
-
RIN2 p.Lys825Met
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Met35Ile Uncertain significance Single submitter
-
RIN2 p.Met595Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Met721Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIN2 p.Phe504Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Phe658Leu Uncertain significance Single submitter
- RIN2 p.Pro257Thr Uncertain significance Single submitter
-
RIN2 p.Pro510Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RIN2 p.Pro510Leu Uncertain significance Single submitter
- RIN2 p.Pro576Ala Uncertain significance Single submitter
- RIN2 p.Pro576Thr Uncertain significance Single submitter
- RIN2 p.Pro583His Uncertain significance Single submitter
- RIN2 p.Ser486Cys Uncertain significance Single submitter
- RIN2 p.Val564Phe Uncertain significance Single submitter
- RIN2 p.Val784Leu Uncertain significance Single submitter
- RIN2 p.Val809Met Uncertain significance Single submitter
All RIN2 variants
Pathogenic 11
- p.Arg758Ter Single submitter
- p.Asn44fs Single submitter
- p.Gln33Ter Single submitter
- p.Ile272fs Single submitter
- p.Ile578fs Single submitter RIN2 syndrome
- p.Pro308fs Single submitter
- p.Ser16fs Single submitter
- p.Tyr154Ter Single submitter
- p.Tyr62fs Single submitter
- p.Val641fs Single submitter
- p.Glu638fs No assertion criteria RIN2 syndrome
Likely pathogenic 6
- c.2069-1G>T Single submitter
- c.537-2A>C Single submitter
- p.His94fs Single submitter RIN2 syndrome
- p.Leu702fs Single submitter RIN2 syndrome
- p.Thr93fs Single submitter
- c.351+2T>A No assertion criteria RIN2-related disorder
Conflicting classifications of pathogenicity 18
- c.-20G>A Single submitter RIN2 syndrome
- c.-36-2881del Single submitter
- p.Arg135His Single submitter Inborn genetic diseases ⚠
- p.Arg14Gln Single submitter Inborn genetic diseases ⚠
- p.Arg14Ter Single submitter RIN2-related disorder
- p.Arg381Trp Single submitter Inborn genetic diseases ⚠
- p.Glu202Lys Single submitter Inborn genetic diseases ⚠
- p.Glu754Lys Single submitter Inborn genetic diseases ⚠
- p.Gly10Ser Single submitter RIN2 syndrome ⚠
- p.Leu158= Single submitter
- p.Pro335Arg Single submitter Inborn genetic diseases ⚠
- p.Pro349Ser Single submitter Inborn genetic diseases ⚠
- p.Pro476Arg Single submitter ⚠
- p.Ser232Phe Single submitter Inborn genetic diseases ⚠
- p.Ser26Leu Single submitter ⚠
- p.Tyr834Phe Single submitter ⚠
- p.Val548Met Single submitter Inborn genetic diseases ⚠
- p.Val677= Single submitter
Benign 43
- c.158+301T>C Multiple submitters
- c.1762+167G>A Multiple submitters
- c.2068+32G>A Multiple submitters
- c.2201-47G>A Multiple submitters RIN2 syndrome
- c.463+83A>T Multiple submitters
- c.464-103T>C Multiple submitters
- c.536+197G>T Multiple submitters
- c.58-65C>G Multiple submitters
- c.628+87C>T Multiple submitters
- c.629-19C>T Multiple submitters
- c.-11C>T Multiple submitters
- c.-36-225T>C Multiple submitters
- c.-36-2804C>A Multiple submitters
- c.-36-2865del Multiple submitters
- c.-36-3168C>T Multiple submitters
- p.Ala268= Multiple submitters
- p.Ala643Thr Multiple submitters
- p.Cys71Tyr Multiple submitters
- p.Gly29Arg Multiple submitters RIN2 syndrome ⚠
- p.His606= Multiple submitters RIN2 syndrome
- p.Leu348= Multiple submitters
- p.Pro116Leu Multiple submitters
- p.Pro143Ser Multiple submitters
- p.Pro667= Multiple submitters
- p.Ser197Thr Multiple submitters
- c.2068+157G>A Single submitter
- c.352-313G>A Single submitter
- c.57+23A>T Single submitter
- c.628+249G>A Single submitter
- c.628+268dup Single submitter
- c.628+289C>T Single submitter
- c.-36-230G>A Single submitter
- c.-36-2484G>A Single submitter
- c.-36-2528del Single submitter
- c.-36-2935del Single submitter
- c.-36-2935dup Single submitter
- c.-36-2954C>T Single submitter
- c.-36-2957del Single submitter
- c.-36-3284G>A Single submitter
- p.Ala519= Single submitter
- p.Arg676Gln Single submitter
- p.Asp785= Single submitter
- p.Ile86= Single submitter
Benign/Likely benign 18
- c.2069-8G>A Multiple submitters
- c.463+12T>C Multiple submitters
- c.57+18T>C Multiple submitters
- c.628+7G>A Multiple submitters
- c.629-8A>C Multiple submitters
- p.Ala617= Multiple submitters RIN2 syndrome
- p.Arg446= Multiple submitters
- p.His122Arg Multiple submitters Inborn genetic diseases
- p.Ile28= Multiple submitters RIN2 syndrome
- p.Leu639= Multiple submitters
- p.Lys857= Multiple submitters
- p.Pro475= Multiple submitters
- p.Ser26= Multiple submitters
- p.Ser322Asn Multiple submitters
- p.Ser740= Multiple submitters
- p.Thr806= Multiple submitters
- p.Tyr812= Multiple submitters RIN2 syndrome
- p.Val488= Multiple submitters
Likely benign 257
- c.158+8G>C Multiple submitters
- c.159-17G>A Multiple submitters RIN2 syndrome
- c.159-19C>A Multiple submitters
- c.1762+19A>T Multiple submitters
- c.1763-10T>C Multiple submitters
- c.2068+9G>A Multiple submitters
- c.2200+13G>A Multiple submitters
- c.464-74A>G Multiple submitters
- c.536+16C>G Multiple submitters
- c.57+36G>A Multiple submitters
- c.629-39C>T Multiple submitters
- c.-25G>A Multiple submitters
- c.-36-2826C>T Multiple submitters
- c.-36-285A>G Multiple submitters
- p.Ala403= Multiple submitters
- p.Ala72= Multiple submitters
- p.Ala757= Multiple submitters
- p.Arg290= Multiple submitters
- p.Arg310= Multiple submitters
- p.Asn247= Multiple submitters
- p.Asp217= Multiple submitters
- p.Asp841= Multiple submitters
- p.Cys822= Multiple submitters
- p.Glu203Asp Multiple submitters
- p.Gly466= Multiple submitters
- p.Gly694= Multiple submitters
- p.His731= Multiple submitters
- p.His92Gln Multiple submitters
- p.Ile718= Multiple submitters
- p.Phe487= Multiple submitters
- p.Phe826= Multiple submitters
- p.Pro116= Multiple submitters
- p.Pro291= Multiple submitters
- p.Pro308= Multiple submitters
- p.Pro314= Multiple submitters
- p.Pro48= Multiple submitters
- p.Pro636= Multiple submitters
- p.Pro644= Multiple submitters
- p.Ser728= Multiple submitters
- p.Thr301= Multiple submitters
- p.Thr330= Multiple submitters
- p.Thr815= Multiple submitters
- p.Thr843= Multiple submitters
- p.Val590= Multiple submitters
- p.Val656Ile Multiple submitters
- c.158+13A>C Single submitter
- c.158+13A>G Single submitter
- c.158+14C>T Single submitter
- c.158+15G>A Single submitter
- c.158+20G>C Single submitter
- c.159-16C>T Single submitter
- c.159-18C>T Single submitter
- c.159-22G>A Single submitter
- c.159-95G>A Single submitter
- c.1762+10C>A Single submitter
- c.1762+8C>A Single submitter
- c.1762+9C>A Single submitter
- c.1763-19G>A Single submitter
- c.1763-4G>A Single submitter
- c.2068+17C>G Single submitter
- c.2068+40T>C Single submitter
- c.2068+48G>A Single submitter
- c.2068+8C>T Single submitter
- c.2069-118A>G Single submitter
- c.2069-135A>G Single submitter
- c.2069-14C>T Single submitter
- c.2069-17_2069-15del Single submitter
- c.2069-20C>T Single submitter
- c.2200+111C>T Single submitter
- c.2200+18A>G Single submitter
- c.2200+20G>C Single submitter
- c.2200+8C>T Single submitter
- c.2201-13C>A Single submitter
- c.2201-13C>G Single submitter
- c.2201-18T>C Single submitter
- c.2201-279A>T Single submitter
- c.2201-7T>G Single submitter
- c.2201-8C>T Single submitter
- c.2364+19C>A Single submitter
- c.2364+7A>G Single submitter
- c.2365-15C>T Single submitter
- c.2365-8A>G Single submitter
- c.351+17C>T Single submitter
- c.351+18G>A Single submitter
- c.352-10C>G Single submitter
- c.352-11C>T Single submitter
- c.352-15T>C Single submitter
- c.352-233A>G Single submitter
- c.352-4C>T Single submitter
- c.352-5A>C Single submitter
- c.463+11A>G Single submitter
- c.463+13del Single submitter
- c.463+244G>A Single submitter
- c.463+285C>G Single submitter
- c.464-11C>A Single submitter
- c.464-15A>G Single submitter
- c.464-18C>T Single submitter
- c.464-270dup Single submitter
- c.464-9C>G Single submitter
- c.536+7C>A Single submitter
- c.537-236T>C Single submitter
- c.57+13C>T Single submitter
- c.57+230G>T Single submitter
- c.57+8G>A Single submitter
- c.58-117del Single submitter
- c.58-126_58-117del Single submitter
- c.628+12C>T Single submitter
- c.628+13C>G Single submitter
- c.628+15C>G Single submitter
- c.628+18G>T Single submitter
- c.628+19C>A Single submitter
- c.629-9G>A Single submitter
- c.-10G>A Single submitter
- c.-16A>C Single submitter
- c.-36-12C>G Single submitter
- c.-36-2589G>A Single submitter
- c.-36-267_-36-265dup Single submitter
- c.-36-2775T>C Single submitter
- c.-36-2776T>C Single submitter
- c.-36-2825G>C Single submitter
- c.-36-2861C>T Single submitter
- c.-36-2936_-36-2935dup Single submitter
- c.-36-2942_-36-2935del Single submitter
- c.-36-2957_-36-2948del Single submitter
- c.-36-2957_-36-2949del Single submitter
- c.-36-2972CTT[8] Single submitter
- c.-36-3077C>T Single submitter
- c.*9C>T Single submitter
- p.Ala238= Single submitter
- p.Ala393= Single submitter
- p.Ala455= Single submitter
- p.Ala49Thr Single submitter Inborn genetic diseases
- p.Ala594= Single submitter
- p.Ala707= Single submitter
- p.Ala823= Single submitter
- p.Ala858= Single submitter
- p.Arg14= Single submitter
- p.Arg228= Single submitter
- p.Arg303= Single submitter
- p.Arg410= Single submitter
- p.Arg428= Single submitter
- p.Arg523= Single submitter
- p.Arg758= Single submitter
- p.Arg9= Single submitter
- p.Asn266= Single submitter
- p.Asn297= Single submitter
- p.Asn345= Single submitter
- p.Asn44= Single submitter
- p.Asn566= Single submitter
- p.Asn688= Single submitter
- p.Asn878= Single submitter
- p.Asn887= Single submitter
- p.Asp39= Single submitter
- p.Asp445= Single submitter
- p.Asp456= Single submitter
- p.Asp67= Single submitter
- p.Asp88= Single submitter
- p.Cys270= Single submitter
- p.Gln364= Single submitter
- p.Gln796= Single submitter
- p.Glu105= Single submitter
- p.Glu109= Single submitter
- p.Glu259= Single submitter
- p.Glu387= Single submitter
- p.Glu417= Single submitter
- p.Glu471= Single submitter
- p.Glu668= Single submitter
- p.Gly10= Single submitter
- p.Gly267= Single submitter
- p.Gly300Asp Single submitter RIN2 syndrome
- p.Gly379= Single submitter
- p.Gly61= Single submitter
- p.Gly640= Single submitter
- p.Gly7= Single submitter
- p.Gly829= Single submitter
- p.His227= Single submitter
- p.His320= Single submitter
- p.His615= Single submitter
- p.His772= Single submitter
- p.Ile477= Single submitter
- p.Ile518= Single submitter
- p.Ile813= Single submitter
- p.Leu111= Single submitter
- p.Leu120= Single submitter
- p.Leu230= Single submitter
- p.Leu243= Single submitter
- p.Leu361= Single submitter
- p.Leu574= Single submitter
- p.Leu628= Single submitter
- p.Leu673= Single submitter
- p.Leu747= Single submitter
- p.Leu84= Single submitter
- p.Leu892= Single submitter
- p.Leu98= Single submitter
- p.Lys123= Single submitter
- p.Lys126= Single submitter
- p.Lys375= Single submitter
- p.Lys612= Single submitter
- p.Met616Val Single submitter Inborn genetic diseases
- p.Phe165= Single submitter
- p.Phe211= Single submitter
- p.Phe271= Single submitter
- p.Phe642= Single submitter
- p.Phe839= Single submitter
- p.Phe871= Single submitter
- p.Pro257= Single submitter
- p.Pro307= Single submitter
- p.Pro312= Single submitter
- p.Pro382= Single submitter
- p.Pro386= Single submitter
- p.Pro405= Single submitter
- p.Pro413= Single submitter
- p.Pro421= Single submitter
- p.Pro577= Single submitter
- p.Pro700= Single submitter
- p.Pro864= Single submitter
- p.Pro866= Single submitter
- p.Ser157= Single submitter
- p.Ser197= Single submitter
- p.Ser214= Single submitter
- p.Ser232= Single submitter
- p.Ser258= Single submitter
- p.Ser306= Single submitter
- p.Ser378= Single submitter
- p.Ser418= Single submitter
- p.Ser430= Single submitter
- p.Ser439= Single submitter
- p.Ser485= Single submitter
- p.Ser495= Single submitter
- p.Ser505= Single submitter
- p.Ser572= Single submitter
- p.Ser580= Single submitter
- p.Ser63= Single submitter
- p.Ser666= Single submitter
- p.Ser689= Single submitter
- p.Thr125= Single submitter
- p.Thr185= Single submitter
- p.Thr304= Single submitter
- p.Thr332= Single submitter
- p.Thr354= Single submitter
- p.Thr551= Single submitter
- p.Thr645= Single submitter
- p.Thr683= Single submitter
- p.Thr764= Single submitter
- p.Thr776= Single submitter
- p.Thr777= Single submitter
- p.Thr93= Single submitter
- p.Tyr720= Single submitter
- p.Val338= Single submitter
- p.Val533= Single submitter
- p.Val548= Single submitter
- c.-36-2899G>A No assertion criteria RIN2-related disorder
- p.Ala315= No assertion criteria RIN2-related disorder
- p.Ala315Pro No assertion criteria
- p.Arg632= No assertion criteria RIN2-related disorder
- p.His250= No assertion criteria RIN2-related disorder
- p.Pro313= No assertion criteria RIN2-related disorder
Uncertain significance 314
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala205Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala72Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala8Thr Multiple submitters ⚠
- p.Arg135Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg170Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg255Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg290Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg303Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg446Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg516Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg73Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg73Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg774Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg779Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg83Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg875Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg89Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg9Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn266Ile Multiple submitters Inborn genetic diseases ⚠
- p.Asn297Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn799fs Multiple submitters
- p.Asp431Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp445Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp67Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp697Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp879Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp879Glu Multiple submitters ⚠
- p.Asp891Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln541Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln886Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu146Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu584Gly Multiple submitters ⚠
- p.Glu797Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly160Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly267Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly350Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly380Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly406Glu Multiple submitters ⚠
- p.Gly888Arg Multiple submitters Inborn genetic diseases ⚠
- p.His122Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His227Pro Multiple submitters ⚠
- p.His340Arg Multiple submitters Inborn genetic diseases ⚠
- p.His731Arg Multiple submitters ⚠
- p.Ile876Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu223Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu492Phe Multiple submitters ⚠
- p.Lys196Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys491Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys622Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met448Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro115Leu Multiple submitters ⚠
- p.Pro183Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro221Gln Multiple submitters ⚠
- p.Pro308Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro308Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro308Gln Multiple submitters RIN2 syndrome ⚠
- p.Pro308Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro312Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro396Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro577Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser197Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser281Thr Multiple submitters ⚠
- p.Ser79Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser800Cys Multiple submitters RIN2 syndrome ⚠
- p.Thr23Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr321Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr332Lys Multiple submitters Inborn genetic diseases ⚠
- p.Thr351Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr376Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr509Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr683Met Multiple submitters ⚠
- p.Thr93Ala Multiple submitters ⚠
- p.Val235Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val279Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val36Met Multiple submitters Inborn genetic diseases ⚠
- p.Val40Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val55Gly Multiple submitters ⚠
- p.Val607Met Multiple submitters ⚠
- p.Val840Ile Multiple submitters RIN2 syndrome ⚠
- c.2200+5_2200+6del Single submitter
- c.463+6T>C Single submitter
- c.-24T>C Single submitter
- c.-28G>A Single submitter
- c.-29C>T Single submitter
- c.-36-15T>G Single submitter
- c.-36-16A>G Single submitter
- c.-36-2786G>A Single submitter
- c.-36-2787C>T Single submitter
- c.-36-2790C>T Single submitter
- c.-36-2802C>T Single submitter Inborn genetic diseases
- c.-36-2806T>A Single submitter Inborn genetic diseases
- c.-36-2815T>C Single submitter
- c.-36-2817T>C Single submitter
- c.-36-2835G>T Single submitter Inborn genetic diseases
- c.-36-2836A>G Single submitter
- c.-36-2841G>C Single submitter
- c.-36-2842A>T Single submitter
- c.-36-2886C>G Single submitter
- c.-36-2890G>T Single submitter
- p.Ala113Asp Single submitter ⚠
- p.Ala113Val Single submitter ⚠
- p.Ala166Gly Single submitter ⚠
- p.Ala166Thr Single submitter ⚠
- p.Ala315Ser Single submitter ⚠
- p.Ala347Asp Single submitter ⚠
- p.Ala365Asp Single submitter ⚠
- p.Ala393Asp Single submitter Inborn genetic diseases ⚠
- p.Ala393Thr Single submitter Inborn genetic diseases ⚠
- p.Ala411Asp Single submitter Inborn genetic diseases ⚠
- p.Ala411Thr Single submitter Inborn genetic diseases ⚠
- p.Ala474Glu Single submitter ⚠
- p.Ala519Pro Single submitter RIN2 syndrome ⚠
- p.Ala741Thr Single submitter Inborn genetic diseases ⚠
- p.Ala823Thr Single submitter Inborn genetic diseases ⚠
- p.Ala858Thr Single submitter ⚠
- p.Arg170= Single submitter
- p.Arg170Gln Single submitter ⚠
- p.Arg179= Single submitter
- p.Arg179Thr Single submitter ⚠
- p.Arg241Pro Single submitter ⚠
- p.Arg290Pro Single submitter ⚠
- p.Arg290Trp Single submitter Inborn genetic diseases ⚠
- p.Arg294Gly Single submitter ⚠
- p.Arg305Gln Single submitter Inborn genetic diseases ⚠
- p.Arg310Met Single submitter Inborn genetic diseases ⚠
- p.Arg324Trp Single submitter ⚠
- p.Arg360Trp Single submitter Inborn genetic diseases ⚠
- p.Arg37Gln Single submitter ⚠
- p.Arg37Gly Single submitter ⚠
- p.Arg381Gln Single submitter Inborn genetic diseases ⚠
- p.Arg419Gln Single submitter Inborn genetic diseases ⚠
- p.Arg426Gln Single submitter Inborn genetic diseases ⚠
- p.Arg428Leu Single submitter ⚠
- p.Arg428Trp Single submitter Inborn genetic diseases ⚠
- p.Arg523Gln Single submitter Inborn genetic diseases ⚠
- p.Arg632Gln Single submitter ⚠
- p.Arg632Trp Single submitter ⚠
- p.Arg676Trp Single submitter Inborn genetic diseases ⚠
- p.Arg83Ser Single submitter ⚠
- p.Arg863Ter Single submitter
- p.Arg89Gly Single submitter ⚠
- p.Arg9His Single submitter Inborn genetic diseases ⚠
- p.Asn273Ser Single submitter ⚠
- p.Asn317Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn339Lys Single submitter ⚠
- p.Asn345Lys Single submitter Inborn genetic diseases ⚠
- p.Asn635Ser Single submitter ⚠
- p.Asn82Ser Single submitter Inborn genetic diseases ⚠
- p.Asn878Lys Single submitter ⚠
- p.Asn878Ser Single submitter ⚠
- p.Asp233His Single submitter ⚠
- p.Asp233Tyr Single submitter ⚠
- p.Asp407Tyr Single submitter ⚠
- p.Asp445Gly Single submitter ⚠
- p.Asp524Asn Single submitter ⚠
- p.Asp74Asn Single submitter Inborn genetic diseases ⚠
- p.Asp817His Single submitter Inborn genetic diseases
- p.Asp830Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp841Asn Single submitter ⚠
- p.Cys176Tyr Single submitter ⚠
- p.Cys71Ser Single submitter Inborn genetic diseases ⚠
- p.Gln264Leu Single submitter Inborn genetic diseases ⚠
- p.Gln33Arg Single submitter ⚠
- p.Gln364Leu Single submitter Inborn genetic diseases ⚠
- p.Gln470Glu Single submitter ⚠
- p.Glu336Asp Single submitter Inborn genetic diseases ⚠
- p.Glu34Lys Single submitter ⚠
- p.Glu369Val Single submitter Inborn genetic diseases ⚠
- p.Glu371Gln Single submitter ⚠
- p.Glu387Lys Single submitter ⚠
- p.Glu417Asp Single submitter ⚠
- p.Glu467Gln Single submitter ⚠
- p.Glu511Lys Single submitter Inborn genetic diseases
- p.Glu64Lys Single submitter ⚠
- p.Glu816Lys Single submitter Inborn genetic diseases ⚠
- p.Glu842Lys Single submitter Inborn genetic diseases ⚠
- p.Glu889fs Single submitter
- p.Glu889Gln Single submitter Inborn genetic diseases ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly160Ala Single submitter
- p.Gly234Ser Single submitter ⚠
- p.Gly350Arg Single submitter ⚠
- p.Gly373Asp Single submitter Inborn genetic diseases ⚠
- p.Gly379Arg Single submitter ⚠
- p.Gly379Asp Single submitter ⚠
- p.Gly379Ser Single submitter ⚠
- p.Gly397Asp Single submitter Inborn genetic diseases ⚠
- p.Gly406Ala Single submitter Inborn genetic diseases ⚠
- p.Gly406Trp Single submitter Inborn genetic diseases ⚠
- p.Gly424Arg Single submitter ⚠
- p.Gly466Ala Single submitter Inborn genetic diseases ⚠
- p.Gly605Arg Single submitter Inborn genetic diseases ⚠
- p.Gly829Arg Single submitter ⚠
- p.Gly888Glu Single submitter ⚠
- p.His227Arg Single submitter ⚠
- p.His340Gln Single submitter Inborn genetic diseases ⚠
- p.His731Tyr Single submitter ⚠
- p.His94Tyr Single submitter
- p.Ile149Met Single submitter ⚠
- p.Ile172Met Single submitter ⚠
- p.Ile748Val Single submitter ⚠
- p.Ile868Val Single submitter ⚠
- p.Ile884Thr Single submitter Inborn genetic diseases ⚠
- p.Ile884Val Single submitter ⚠
- p.Ile96Met Single submitter Inborn genetic diseases ⚠
- p.Ile96Thr Single submitter Inborn genetic diseases ⚠
- p.Leu111Pro Single submitter Inborn genetic diseases ⚠
- p.Leu230Pro Single submitter ⚠
- p.Leu230Val Single submitter ⚠
- p.Leu245Phe Single submitter ⚠
- p.Leu284Phe Single submitter ⚠
- p.Leu348Val Single submitter Inborn genetic diseases ⚠
- p.Leu368Arg Single submitter ⚠
- p.Leu760Ile Single submitter Inborn genetic diseases ⚠
- p.Leu87Trp Single submitter ⚠
- p.Leu91Phe Single submitter ⚠
- p.Lys565Asn Single submitter ⚠
- p.Lys604Gln Single submitter Inborn genetic diseases ⚠
- p.Lys825Met Single submitter Inborn genetic diseases ⚠
- p.Lys877Asn Single submitter Inborn genetic diseases ⚠
- p.Met127Leu Single submitter ⚠
- p.Met35Ile Single submitter ⚠
- p.Met448Thr Single submitter Inborn genetic diseases ⚠
- p.Met514Ile Single submitter ⚠
- p.Met54Val Single submitter ⚠
- p.Met595Ile Single submitter Inborn genetic diseases ⚠
- p.Met610Arg Single submitter Inborn genetic diseases ⚠
- p.Met616Ile Single submitter Inborn genetic diseases ⚠
- p.Met659Val Single submitter Inborn genetic diseases ⚠
- p.Met692Leu Single submitter ⚠
- p.Met6Thr Single submitter Inborn genetic diseases ⚠
- p.Met711Ile Single submitter ⚠
- p.Met711Thr Single submitter Inborn genetic diseases
- p.Met721Ile Single submitter Inborn genetic diseases ⚠
- p.Met722Leu Single submitter ⚠
- p.Phe174Leu Single submitter Inborn genetic diseases ⚠
- p.Phe367Leu Single submitter ⚠
- p.Phe444Leu Single submitter Inborn genetic diseases ⚠
- p.Phe504Leu Single submitter Inborn genetic diseases ⚠
- p.Phe658Leu Single submitter ⚠
- p.Pro220Ala Single submitter ⚠
- p.Pro225_Pro226insAsnLeuProPro Single submitter
- p.Pro225Ser Single submitter Inborn genetic diseases ⚠
- p.Pro226= Single submitter
- p.Pro229Ser Single submitter ⚠
- p.Pro237Ser Single submitter ⚠
- p.Pro257Thr Single submitter ⚠
- p.Pro274His Single submitter Inborn genetic diseases ⚠
- p.Pro309Ala Single submitter Inborn genetic diseases ⚠
- p.Pro313Ser Single submitter Inborn genetic diseases ⚠
- p.Pro349Leu Single submitter ⚠
- p.Pro382Leu Single submitter ⚠
- p.Pro405Leu Single submitter Inborn genetic diseases ⚠
- p.Pro405Ser Single submitter Inborn genetic diseases ⚠
- p.Pro420Ala Single submitter ⚠
- p.Pro420Leu Single submitter ⚠
- p.Pro449Thr Single submitter ⚠
- p.Pro476Ala Single submitter ⚠
- p.Pro476Leu Single submitter RIN2 syndrome ⚠
- p.Pro510Ala Single submitter Inborn genetic diseases ⚠
- p.Pro510Arg Single submitter Inborn genetic diseases ⚠
- p.Pro510Leu Single submitter ⚠
- p.Pro576Ala Single submitter ⚠
- p.Pro576Thr Single submitter ⚠
- p.Pro577Ala Single submitter ⚠
- p.Pro583His Single submitter ⚠
- p.Pro667Gln Single submitter ⚠
- p.Pro811Thr Single submitter ⚠
- p.Pro831fs Single submitter RIN2 syndrome
- p.Pro880Thr Single submitter ⚠
- p.Ser124Tyr Single submitter
- p.Ser157Cys Single submitter ⚠
- p.Ser157Pro Single submitter ⚠
- p.Ser239Cys Single submitter ⚠
- p.Ser281Arg Single submitter Inborn genetic diseases ⚠
- p.Ser306fs Single submitter
- p.Ser333Asn Single submitter Inborn genetic diseases ⚠
- p.Ser395Asn Single submitter Inborn genetic diseases ⚠
- p.Ser415Arg Single submitter ⚠
- p.Ser441Leu Single submitter ⚠
- p.Ser479Phe Single submitter Inborn genetic diseases ⚠
- p.Ser486Cys Single submitter ⚠
- p.Ser762Leu Single submitter ⚠
- p.Thr153Lys Single submitter Inborn genetic diseases ⚠
- p.Thr23Ala Single submitter Inborn genetic diseases ⚠
- p.Thr304Ile Single submitter Inborn genetic diseases ⚠
- p.Thr332Ala Single submitter ⚠
- p.Thr332Met Single submitter ⚠
- p.Thr337Ile Single submitter ⚠
- p.Thr472Ile Single submitter Inborn genetic diseases ⚠
- p.Thr527Ile Single submitter ⚠
- p.Thr716Ile Single submitter Inborn genetic diseases ⚠
- p.Thr777Ser Single submitter ⚠
- p.Thr780Ala Single submitter ⚠
- p.Thr780Asn Single submitter Inborn genetic diseases ⚠
- p.Thr806Pro Single submitter ⚠
- p.Thr815Ala Single submitter ⚠
- p.Thr851Ala Single submitter Inborn genetic diseases
- p.Tyr881Ter Single submitter
- p.Val181Ile Single submitter Inborn genetic diseases ⚠