TRIM37 — 816 ClinVar variants
All ClinVar germline TRIM37 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →
41 Pathogenic · 16 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 18 Conflicting · 40 Benign · 12 Benign/Likely benign · 411 Likely benign · 223 Uncertain significance
Full TRIM37 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 177
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TRIM37 p.Ala580Val
Conflicting
Single submitter
mulibrey nanism
-
TRIM37 p.Arg640His
Conflicting
Single submitter
mulibrey nanism
- TRIM37 p.Asn747Ser Conflicting Single submitter
-
TRIM37 p.Cys109Ser
Conflicting
Single submitter
mulibrey nanism
-
TRIM37 p.Leu76Pro
Conflicting
Single submitter
TRIM37-related disorder
Predictors lean, ClinVar uncertain 141
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TRIM37 p.Ala385Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Ala683Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Ala848Val
Uncertain significance
Multiple submitters
mulibrey nanism
-
TRIM37 p.Arg178His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Arg180Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Arg192Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Arg230Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIM37 p.Arg253Gln Uncertain significance Multiple submitters
-
TRIM37 p.Arg628Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Arg775Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Arg811Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Arg828Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Asn747Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Asp577Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Asp691Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Asp77Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Asp789Glu
Uncertain significance
Multiple submitters
mulibrey nanism
-
TRIM37 p.Asp926Tyr
Uncertain significance
Multiple submitters
mulibrey nanism
-
TRIM37 p.Asp945Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Gln393Arg
Uncertain significance
Multiple submitters
mulibrey nanism
-
TRIM37 p.Glu483Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Glu916Lys
Uncertain significance
Multiple submitters
mulibrey nanism
-
TRIM37 p.Gly589Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Gly950Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.His99Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Leu453Met
Uncertain significance
Multiple submitters
mulibrey nanism
- TRIM37 p.Leu867Pro Uncertain significance Multiple submitters
-
TRIM37 p.Met246Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Met665Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Met688Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Pro263Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Ser760Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Ser801Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Ser942Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Thr441Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Tyr323Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Tyr524Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Ala133Gly
Uncertain significance
Single submitter
mulibrey nanism
-
TRIM37 p.Ala584Thr
Uncertain significance
Single submitter
mulibrey nanism
-
TRIM37 p.Ala606Thr
Uncertain significance
Single submitter
mulibrey nanism
-
TRIM37 p.Ala643Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Ala777Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Arg192Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Arg23Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Arg344His Uncertain significance Single submitter
- TRIM37 p.Arg380Cys Uncertain significance Single submitter
- TRIM37 p.Arg42Cys Uncertain significance Single submitter
-
TRIM37 p.Arg446Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Arg55Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Arg600Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Arg628Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Arg667Gln Uncertain significance Single submitter
- TRIM37 p.Arg751Gln Uncertain significance Single submitter
- TRIM37 p.Arg785Cys Uncertain significance Single submitter
-
TRIM37 p.Arg828Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Asn317Ser Uncertain significance Single submitter
- TRIM37 p.Asn545Ser Uncertain significance Single submitter
- TRIM37 p.Asn566Lys Uncertain significance Single submitter
-
TRIM37 p.Asn861Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Asn877Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Asn957Ser Uncertain significance Single submitter
- TRIM37 p.Asp366Val Uncertain significance Single submitter
-
TRIM37 p.Asp465Gly
Uncertain significance
Single submitter
mulibrey nanism
-
TRIM37 p.Asp577Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Cys112Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Cys724Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Cys790Arg Uncertain significance Single submitter
-
TRIM37 p.Cys790Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Gln223Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Gln249Glu Uncertain significance Single submitter
-
TRIM37 p.Gln393Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Gln432Arg Uncertain significance Single submitter
-
TRIM37 p.Gln829His
Uncertain significance
Single submitter
mulibrey nanism
- TRIM37 p.Gln885His Uncertain significance Single submitter
-
TRIM37 p.Glu512Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Glu525Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Glu684Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Glu826Lys Uncertain significance Single submitter
- TRIM37 p.Glu897Lys Uncertain significance Single submitter
- TRIM37 p.Glu960Lys Uncertain significance Single submitter
-
TRIM37 p.Gly485Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Gly636Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Gly730Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Gly864Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.His115Tyr Uncertain significance Single submitter
- TRIM37 p.His602Tyr Uncertain significance Single submitter
-
TRIM37 p.His99Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Ile202Met
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Ile430Met Uncertain significance Single submitter
- TRIM37 p.Ile631Thr Uncertain significance Single submitter
- TRIM37 p.Ile750Thr Uncertain significance Single submitter
-
TRIM37 p.Ile818Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Leu229Met
Uncertain significance
Single submitter
mulibrey nanism
-
TRIM37 p.Leu460Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Leu60Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Leu672Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Leu875Met Uncertain significance Single submitter
-
TRIM37 p.Leu875Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Lys495Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Lys787Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Lys831Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Met246Thr Uncertain significance Single submitter
-
TRIM37 p.Met567Lys
Uncertain significance
Single submitter
mulibrey nanism
- TRIM37 p.Met674Ile Uncertain significance Single submitter
-
TRIM37 p.Phe281Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Pro57Leu Uncertain significance Single submitter
-
TRIM37 p.Pro583Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Pro761Leu
Uncertain significance
Single submitter
mulibrey nanism
-
TRIM37 p.Pro798Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Pro886Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Ser287Arg Uncertain significance Single submitter
- TRIM37 p.Ser351Phe Uncertain significance Single submitter
-
TRIM37 p.Ser478Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Ser586Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Ser595Gly Uncertain significance Single submitter
- TRIM37 p.Ser610Gly Uncertain significance Single submitter
-
TRIM37 p.Ser644Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Ser715Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Ser758Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Ser771Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Ser801Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Ser809Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Ser817Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Ser893Leu Uncertain significance Single submitter
-
TRIM37 p.Thr141Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Thr280Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Thr690Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Thr711Ala Uncertain significance Single submitter
-
TRIM37 p.Thr754Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Thr873Ala Uncertain significance Single submitter
-
TRIM37 p.Thr939Ile
Uncertain significance
Single submitter
mulibrey nanism
-
TRIM37 p.Trp373Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Tyr136Cys
Uncertain significance
Single submitter
mulibrey nanism
-
TRIM37 p.Tyr136His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Tyr652Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Val397Leu Uncertain significance Single submitter
-
TRIM37 p.Val523Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Val668Met
Uncertain significance
Single submitter
mulibrey nanism
- TRIM37 p.Val838Leu Uncertain significance Single submitter
-
TRIM37 p.Cys748Tyr
Uncertain significance
No assertion criteria
mulibrey nanism
-
TRIM37 p.Tyr749Ser
Uncertain significance
No assertion criteria
TRIM37-related disorder
Predictors split 31
The independent predictors disagree with each other — read with care.
-
TRIM37 p.Ile17Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Pro57Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIM37 p.Ser233Asn
Uncertain significance
Multiple submitters
mulibrey nanism
-
TRIM37 p.Val397Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIM37 p.Ala10Val Uncertain significance Single submitter
- TRIM37 p.Ala191Gly Uncertain significance Single submitter
-
TRIM37 p.Ala69Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Arg14Gln Uncertain significance Single submitter
- TRIM37 p.Arg26His Uncertain significance Single submitter
-
TRIM37 p.Asp2Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Asp519His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Asp552Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Asp561Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Asp93Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Glu554Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Glu559Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.His252Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Ile419Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Lys626Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Lys679Thr
Uncertain significance
Single submitter
mulibrey nanism
-
TRIM37 p.Lys92Met
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIM37 p.Phe16Leu Uncertain significance Single submitter
-
TRIM37 p.Pro266Ser
Uncertain significance
Single submitter
mulibrey nanism
- TRIM37 p.Ser220Phe Uncertain significance Single submitter
-
TRIM37 p.Ser287Asn
Likely pathogenic
Single submitter
mulibrey nanism
- TRIM37 p.Ser339Thr Uncertain significance Single submitter
- TRIM37 p.Thr203Ile Uncertain significance Single submitter
-
TRIM37 p.Thr555Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Val273Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Val562Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIM37 p.Val312Ile
Uncertain significance
No assertion criteria
mulibrey nanism
All TRIM37 variants
Pathogenic 41
- c.493-2A>G Multiple submitters TRIM37-related disorder
- p.Arg61Ter Multiple submitters mulibrey nanism
- p.Arg667Ter Multiple submitters mulibrey nanism
- p.Gln249Ter Multiple submitters mulibrey nanism
- p.Glu46fs Multiple submitters mulibrey nanism
- p.Glu632fs Multiple submitters mulibrey nanism
- p.Lys149fs Multiple submitters mulibrey nanism
- p.Phe409fs Multiple submitters Inborn genetic diseases
- p.Arg14fs Single submitter
- p.Arg151fs Single submitter
- p.Arg180fs Single submitter
- p.Arg446Ter Single submitter
- p.Arg654Ter Single submitter
- p.Arg677fs Single submitter
- p.Arg686Ter Single submitter mulibrey nanism
- p.Arg775Ter Single submitter
- p.Arg811Ter Single submitter
- p.Asn759Ter Single submitter
- p.Cys117Ter Single submitter
- p.Gln638Ter Single submitter
- p.Gln791fs Single submitter
- p.Gln885fs Single submitter
- p.Glu156fs Single submitter
- p.Glu527Ter Single submitter
- p.Glu738fs Single submitter mulibrey nanism
- p.Gly891Ter Single submitter
- p.Ile821fs Single submitter
- p.Leu813fs Single submitter mulibrey nanism
- p.Lys449Ter Single submitter
- p.Met575fs Single submitter
- p.Ser610fs Single submitter
- p.Thr280fs Single submitter mulibrey nanism
- p.Thr541fs Single submitter mulibrey nanism
- p.Tyr276Ter Single submitter
- p.Tyr389Ter Single submitter Inborn genetic diseases
- p.Tyr509Ter Single submitter
- p.Tyr590fs Single submitter
- p.Tyr590Ter Single submitter
- p.Val140fs Single submitter
- p.Val403fs Single submitter
- p.Ala364fs No assertion criteria mulibrey nanism
Pathogenic/Likely pathogenic 16
- c.370-1G>A Multiple submitters mulibrey nanism
- p.Arg361Ter Multiple submitters mulibrey nanism
- p.Arg471Ter Multiple submitters TRIM37-related disorder
- p.Arg765Ter Multiple submitters mulibrey nanism
- p.Cys28fs Multiple submitters mulibrey nanism
- p.Gln415Ter Multiple submitters mulibrey nanism
- p.Gln431Ter Multiple submitters mulibrey nanism
- p.Glu89Ter Multiple submitters mulibrey nanism
- p.Leu603Ter Multiple submitters mulibrey nanism
- p.Leu793fs Multiple submitters mulibrey nanism
- p.Ser715fs Multiple submitters TRIM37-related disorder
- p.Ser794fs Multiple submitters mulibrey nanism
- p.Trp120Ter Multiple submitters mulibrey nanism
- p.Tyr313fs Multiple submitters mulibrey nanism
- c.810-1G>A No assertion criteria mulibrey nanism
- p.Ser450fs No assertion criteria mulibrey nanism
Likely pathogenic 55
- c.1020-1G>C Multiple submitters mulibrey nanism
- c.1948+2T>C Multiple submitters mulibrey nanism
- c.1949-12A>G Multiple submitters mulibrey nanism
- c.617-1G>A Multiple submitters TRIM37-related disorder
- p.Arg14Ter Multiple submitters mulibrey nanism
- c.1019+2dup Single submitter mulibrey nanism
- c.1020-1G>T Single submitter mulibrey nanism
- c.1200-1G>A Single submitter
- c.123+1G>A Single submitter mulibrey nanism
- c.123+2T>C Single submitter
- c.164+1G>A Single submitter
- c.164+3_164+6del Single submitter TRIM37-related disorder
- c.165-2A>G Single submitter mulibrey nanism
- c.1667+2T>G Single submitter
- c.1668-1G>C Single submitter mulibrey nanism
- c.1949-2A>C Single submitter mulibrey nanism
- c.21+1G>T Single submitter
- c.2258-1G>A Single submitter
- c.2576+1G>A Single submitter mulibrey nanism
- c.2695+1G>A Single submitter mulibrey nanism
- c.2892-2A>T Single submitter mulibrey nanism
- c.492+1G>T Single submitter
- c.616+1G>A Single submitter mulibrey nanism
- c.809+2T>C Single submitter
- c.810-2A>G Single submitter mulibrey nanism
- p.Ala385fs Single submitter mulibrey nanism
- p.Ala746fs Single submitter mulibrey nanism
- p.Arg321Ter Single submitter mulibrey nanism
- p.Asn565delinsGlyIleTer Single submitter mulibrey nanism
- p.Asp354fs Single submitter TRIM37-related disorder
- p.Asp465fs Single submitter
- p.Asp656fs Single submitter mulibrey nanism
- p.Gln196Ter Single submitter mulibrey nanism
- p.Gln213Ter Single submitter mulibrey nanism
- p.Gln350Ter Single submitter mulibrey nanism
- p.Gln431fs Single submitter mulibrey nanism
- p.Gln647Ter Single submitter mulibrey nanism
- p.Gln663Ter Single submitter mulibrey nanism
- p.Glu214Ter Single submitter mulibrey nanism
- p.Gly799Ter Single submitter mulibrey nanism
- p.Ile433fs Single submitter mulibrey nanism
- p.Leu132fs Single submitter TRIM37-related disorder
- p.Leu204fs Single submitter mulibrey nanism
- p.Leu672fs Single submitter mulibrey nanism
- p.Pro255fs Single submitter mulibrey nanism
- p.Ser287Asn Single submitter mulibrey nanism ⚠
- p.Ser450Ter Single submitter mulibrey nanism
- p.Ser5fs Single submitter mulibrey nanism
- p.Ser729fs Single submitter mulibrey nanism
- p.Thr215fs Single submitter mulibrey nanism
- p.Thr441fs Single submitter mulibrey nanism
- p.Trp417Ter Single submitter mulibrey nanism
- p.Tyr749Ter Single submitter mulibrey nanism
- p.Gly322Val No assertion criteria mulibrey nanism
- p.Met347fs No assertion criteria mulibrey nanism
Conflicting classifications of pathogenicity 18
- c.1200-5T>C Single submitter mulibrey nanism
- c.1531-2A>G Single submitter TRIM37-related disorder
- p.Ala580Val Single submitter mulibrey nanism ⚠
- p.Arg640His Single submitter mulibrey nanism ⚠
- p.Arg852= Single submitter mulibrey nanism
- p.Asn747Ser Single submitter ⚠
- p.Cys109Ser Single submitter mulibrey nanism ⚠
- p.Leu384= Single submitter mulibrey nanism
- p.Leu444= Single submitter mulibrey nanism
- p.Leu482= Single submitter mulibrey nanism
- p.Leu76Pro Single submitter TRIM37-related disorder ⚠
- p.Leu772= Single submitter mulibrey nanism
- p.Pro810= Single submitter mulibrey nanism
- p.Ser605= Single submitter mulibrey nanism
- p.Ser760= Single submitter mulibrey nanism
- p.Thr269= Single submitter
- p.Thr754= Single submitter mulibrey nanism
- p.Tyr276= Single submitter mulibrey nanism
Benign 40
- c.1315-88C>T Multiple submitters
- c.2386+40A>G Multiple submitters mulibrey nanism
- c.2695+118A>G Multiple submitters
- c.2813-73A>T Multiple submitters
- c.492+113A>G Multiple submitters
- c.684+88T>C Multiple submitters
- c.-340T>G Multiple submitters mulibrey nanism
- c.*634A>T Multiple submitters mulibrey nanism
- p.Val838Ile Multiple submitters mulibrey nanism
- c.1020-3del Single submitter
- c.1199+112C>A Single submitter
- c.1199+177T>C Single submitter
- c.1199+288T>C Single submitter
- c.123+130G>A Single submitter
- c.123+149C>T Single submitter
- c.124-170G>A Single submitter
- c.124-171_124-170del Single submitter
- c.124-234_124-196del Single submitter
- c.124-236AT[5] Single submitter
- c.1530+20del Single submitter
- c.165-9dup Single submitter
- c.22-12del Single submitter
- c.2576+183C>T Single submitter
- c.2576+246C>G Single submitter
- c.2695+100_2695+101insTGGTGCTGCTGCTGCTGC Single submitter
- c.2813-9dup Single submitter
- c.282-13del Single submitter
- c.370-184G>A Single submitter
- c.370-260C>T Single submitter
- c.684+63dup Single submitter
- c.684+83del Single submitter
- c.809+157G>A Single submitter
- c.810-17del Single submitter
- c.810-4_810-3dup Single submitter
- c.861-292T>C Single submitter
- c.861-295T>A Single submitter
- c.942+106G>A Single submitter
- c.-236A>G Single submitter mulibrey nanism
- c.*373A>G Single submitter mulibrey nanism
- p.Cys372= Single submitter
Benign/Likely benign 12
- c.1667+21C>T Multiple submitters
- c.1754-3C>T Multiple submitters mulibrey nanism
- c.2577-7C>G Multiple submitters mulibrey nanism
- c.810-13dup Multiple submitters
- c.810-3del Multiple submitters
- c.861-6C>T Multiple submitters mulibrey nanism
- c.-224A>G Multiple submitters mulibrey nanism
- p.Ala133Val Multiple submitters mulibrey nanism
- p.Ala683= Multiple submitters mulibrey nanism
- p.Leu422= Multiple submitters mulibrey nanism
- p.Pro583His Multiple submitters mulibrey nanism
- p.Ser332= Multiple submitters
Likely benign 411
Showing the top 300 by review status; the full set is in the sitemap.
- c.164+7G>A Multiple submitters
- c.165-20T>C Multiple submitters
- c.1753+61G>A Multiple submitters
- c.1754-13G>A Multiple submitters
- c.2257+70A>G Multiple submitters
- c.2258-62A>G Multiple submitters
- c.2387-10T>C Multiple submitters
- c.2387-20C>T Multiple submitters
- c.2576+77T>C Multiple submitters
- c.282-6G>A Multiple submitters
- c.2892-24G>A Multiple submitters
- c.492+70A>G Multiple submitters
- c.617-5A>G Multiple submitters
- c.684+141C>A Multiple submitters
- c.*759T>C Multiple submitters mulibrey nanism
- p.Gly125= Multiple submitters
- p.Gly730= Multiple submitters
- p.His139= Multiple submitters
- p.Ile699= Multiple submitters
- p.Leu283= Multiple submitters
- p.Ser712= Multiple submitters
- p.Tyr341= Multiple submitters
- c.1019+18_1019+21del Single submitter
- c.1020-10T>C Single submitter
- c.1020-12T>C Single submitter
- c.1020-14T>G Single submitter
- c.1020-15_1020-12del Single submitter
- c.1020-15G>C Single submitter
- c.1020-16T>C Single submitter
- c.1020-20G>C Single submitter
- c.1020-4T>G Single submitter
- c.1020-9C>A Single submitter
- c.1199+12A>C Single submitter
- c.1199+13A>G Single submitter
- c.1199+14T>A Single submitter
- c.1199+277G>A Single submitter
- c.1199+7G>A Single submitter
- c.1200-13C>A Single submitter
- c.123+10A>G Single submitter
- c.123+14C>A Single submitter
- c.123+17T>C Single submitter
- c.123+213G>C Single submitter
- c.123+8G>A Single submitter
- c.124-12T>G Single submitter
- c.124-13T>G Single submitter
- c.124-148_124-144del Single submitter
- c.124-14T>G Single submitter
- c.124-184_124-182del Single submitter
- c.124-5C>T Single submitter
- c.124-6C>T Single submitter
- c.124-7C>A Single submitter
- c.124-8C>A Single submitter
- c.1314+11A>G Single submitter
- c.1314+12T>C Single submitter
- c.1314+13C>G Single submitter
- c.1314+14T>A Single submitter
- c.1314+15A>G Single submitter
- c.1314+17T>A Single submitter
- c.1314+17T>G Single submitter
- c.1314+20T>C Single submitter
- c.1315-19G>A Single submitter
- c.1530+13C>G Single submitter
- c.1530+15A>G Single submitter
- c.1530+18T>C Single submitter
- c.1530+20T>C Single submitter
- c.1531-12G>C Single submitter
- c.1531-12G>T Single submitter
- c.1531-13G>C Single submitter
- c.1531-16C>T Single submitter
- c.1531-17T>C Single submitter
- c.1531-18T>C Single submitter
- c.1531-20T>C Single submitter
- c.1531-249G>C Single submitter
- c.1531-6A>T Single submitter
- c.164+10T>C Single submitter
- c.164+12C>A Single submitter
- c.164+12C>T Single submitter
- c.164+15del Single submitter
- c.164+15dup Single submitter
- c.164+16C>G Single submitter
- c.164+16C>T Single submitter
- c.164+17G>A Single submitter
- c.164+18A>G Single submitter
- c.164+19T>G Single submitter
- c.164+8T>C Single submitter
- c.164+8T>G Single submitter
- c.165-164C>T Single submitter
- c.165-19G>A Single submitter
- c.165-4C>T Single submitter
- c.165-5C>G Single submitter
- c.165-9T>C Single submitter
- c.1667+14T>A Single submitter
- c.1667+15_1667+16insAG Single submitter
- c.1667+16T>C Single submitter
- c.1667+18_1667+19del Single submitter
- c.1667+19T>C Single submitter
- c.1667+7T>G Single submitter
- c.1667+8T>G Single submitter
- c.1668-10A>G Single submitter
- c.1668-12G>A Single submitter
- c.1668-12G>T Single submitter
- c.1668-17A>G Single submitter
- c.1668-200G>A Single submitter
- c.1668-207C>T Single submitter
- c.1668-8A>C Single submitter
- c.1668-8A>G Single submitter
- c.1668-9T>C Single submitter
- c.1753+11C>G Single submitter
- c.1753+11C>T Single submitter
- c.1753+9G>A Single submitter
- c.1754-14C>T Single submitter
- c.1754-161G>A Single submitter
- c.1754-16T>C Single submitter
- c.1754-4G>T Single submitter
- c.1754-9C>G Single submitter
- c.1948+14A>G Single submitter
- c.1948+19T>G Single submitter
- c.1948+20A>G Single submitter
- c.1949-14C>A Single submitter
- c.1949-14C>T Single submitter
- c.1949-15T>A Single submitter
- c.1949-16G>T Single submitter
- c.1949-18T>G Single submitter
- c.1949-4G>A Single submitter
- c.1949-4G>T Single submitter
- c.1949-7del Single submitter
- c.21+14G>T Single submitter
- c.21+25T>C Single submitter
- c.22-12T>A Single submitter
- c.22-13T>C Single submitter
- c.22-19C>T Single submitter
- c.2257+10A>G Single submitter
- c.2257+15C>A Single submitter
- c.2257+15C>G Single submitter
- c.2257+19G>A Single submitter
- c.2257+8A>C Single submitter
- c.2257+8A>G Single submitter
- c.2258-213dup Single submitter
- c.2258-8C>T Single submitter
- c.2258-9T>C Single submitter
- c.2386+297A>G Single submitter
- c.2387-11T>G Single submitter
- c.2387-13C>T Single submitter
- c.2387-15T>A Single submitter
- c.2387-16C>A Single submitter
- c.2387-20C>G Single submitter
- c.2576+11T>C Single submitter
- c.2576+12T>A Single submitter
- c.2576+18G>A Single submitter
- c.2576+19T>C Single submitter
- c.2576+20A>T Single submitter
- c.2577-15G>A Single submitter
- c.2577-15G>T Single submitter
- c.2577-16T>G Single submitter
- c.2577-19A>C Single submitter
- c.2577-7del Single submitter
- c.2577-9T>C Single submitter
- c.2695+101CTG[9] Single submitter
- c.2695+10G>C Single submitter
- c.2695+10G>T Single submitter
- c.2695+16C>T Single submitter
- c.2695+20T>C Single submitter
- c.2695+20T>G Single submitter
- c.2695+8A>C Single submitter
- c.2695+9T>G Single submitter
- c.281+10C>T Single submitter
- c.281+12A>G Single submitter
- c.281+14_281+26del Single submitter
- c.281+18T>G Single submitter
- c.2813-10T>G Single submitter
- c.2813-12T>G Single submitter
- c.2813-19A>G Single submitter
- c.2813-20T>A Single submitter
- c.2813-4A>G Single submitter
- c.2813-5_2813-3del Single submitter
- c.282-17C>G Single submitter
- c.282-4A>G Single submitter
- c.369+16T>A Single submitter
- c.369+17C>G Single submitter
- c.369+19G>A Single submitter
- c.369+7del Single submitter
- c.370-11A>C Single submitter
- c.370-11A>G Single submitter
- c.370-13C>T Single submitter
- c.370-16A>C Single submitter
- c.492+17A>C Single submitter
- c.492+19T>A Single submitter
- c.492+7C>A Single submitter
- c.492+7C>T Single submitter
- c.492+9A>G Single submitter
- c.493-10dup Single submitter
- c.493-15C>G Single submitter
- c.493-15C>T Single submitter
- c.493-18T>C Single submitter
- c.493-21_493-16del Single submitter
- c.493-3T>C Single submitter
- c.493-4C>G Single submitter
- c.616+11A>G Single submitter
- c.616+13G>A Single submitter
- c.616+14_616+17del Single submitter
- c.616+15A>G Single submitter
- c.616+18C>T Single submitter
- c.617-12A>G Single submitter
- c.617-15A>G Single submitter
- c.617-16C>G Single submitter
- c.617-5A>C Single submitter
- c.684+12T>A Single submitter
- c.684+12T>C Single submitter
- c.684+20A>G Single submitter
- c.684+84G>T Single submitter
- c.684+9A>G Single submitter
- c.685-15T>C Single submitter
- c.685-17T>A Single submitter
- c.685-7C>T Single submitter
- c.809+10A>G Single submitter
- c.809+11G>A Single submitter
- c.809+17A>C Single submitter
- c.809+17A>G Single submitter
- c.810-7T>G Single submitter
- c.860+12T>C Single submitter
- c.860+14A>G Single submitter
- c.860+18T>G Single submitter
- c.860+20C>A Single submitter
- c.860+20C>T Single submitter
- c.860+7G>A Single submitter
- c.861-16T>C Single submitter
- c.861-19T>C Single submitter
- c.861-20T>C Single submitter
- c.861-20T>G Single submitter
- c.861-32_861-25del Single submitter
- c.861-4T>A Single submitter
- c.861-5G>A Single submitter
- c.942+12A>G Single submitter
- c.942+13T>C Single submitter
- c.943-10C>A Single submitter
- c.943-10C>T Single submitter
- c.943-11T>A Single submitter
- c.943-135A>G Single submitter
- c.943-13A>T Single submitter
- c.943-7_943-5del Single submitter
- c.943-7del Single submitter
- c.*658A>G Single submitter mulibrey nanism
- p.Ala118= Single submitter
- p.Ala174= Single submitter
- p.Ala257= Single submitter
- p.Ala424= Single submitter
- p.Ala476= Single submitter
- p.Ala49= Single submitter
- p.Ala607= Single submitter
- p.Ala643= Single submitter
- p.Ala69= Single submitter
- p.Ala723= Single submitter
- p.Ala769= Single submitter
- p.Ala777= Single submitter
- p.Ala837= Single submitter
- p.Ala848= Single submitter
- p.Ala860= Single submitter
- p.Arg166= Single submitter
- p.Arg23= Single submitter
- p.Arg26= Single submitter
- p.Arg361= Single submitter
- p.Arg377= Single submitter
- p.Arg413= Single submitter
- p.Arg471= Single submitter
- p.Arg677= Single submitter
- p.Arg731= Single submitter
- p.Arg811= Single submitter
- p.Arg828= Single submitter
- p.Asn173= Single submitter
- p.Asn376= Single submitter
- p.Asn549= Single submitter
- p.Asn694= Single submitter
- p.Asn783= Single submitter
- p.Asn961= Single submitter
- p.Asp382= Single submitter
- p.Asp508= Single submitter
- p.Asp517= Single submitter
- p.Asp734= Single submitter
- p.Asp945= Single submitter
- p.Cys307= Single submitter
- p.Gln138= Single submitter
- p.Gln162= Single submitter
- p.Gln196= Single submitter
- p.Gln302= Single submitter
- p.Gln415= Single submitter
- p.Gln421= Single submitter
- p.Gln463= Single submitter
- p.Gln50= Single submitter
- p.Gln681= Single submitter
- p.Gln74= Single submitter
- p.Glu137= Single submitter
- p.Glu165= Single submitter
- p.Glu177= Single submitter
- p.Glu219= Single submitter
- p.Glu362= Single submitter
- p.Glu371= Single submitter
- p.Glu423= Single submitter
- p.Glu493= Single submitter
- p.Glu568= Single submitter
- p.Glu571= Single submitter
Uncertain significance 223
- c.*1025A>G Multiple submitters mulibrey nanism
- p.Ala385Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala683Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala848Val Multiple submitters mulibrey nanism ⚠
- p.Arg178His Multiple submitters Inborn genetic diseases ⚠
- p.Arg180Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg192Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg230Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg253Gln Multiple submitters ⚠
- p.Arg628Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg775Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg811Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg828Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn747Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp577Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp691Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp77Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp789Glu Multiple submitters mulibrey nanism ⚠
- p.Asp926Tyr Multiple submitters mulibrey nanism ⚠
- p.Asp945Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln393Arg Multiple submitters mulibrey nanism ⚠
- p.Glu483Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu916Lys Multiple submitters mulibrey nanism ⚠
- p.Gly589Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly950Asp Multiple submitters Inborn genetic diseases ⚠
- p.His99Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile17Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu453Met Multiple submitters mulibrey nanism ⚠
- p.Leu867Pro Multiple submitters ⚠
- p.Met246Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met665Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met688Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro263Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro57Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser233Asn Multiple submitters mulibrey nanism ⚠
- p.Ser760Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser801Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser942Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr441Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr323Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr524Asp Multiple submitters Inborn genetic diseases ⚠
- p.Val397Met Multiple submitters Inborn genetic diseases ⚠
- c.1020-10dup Single submitter mulibrey nanism
- c.1199+5C>G Single submitter
- c.1200-11A>G Single submitter mulibrey nanism
- c.1315-3A>G Single submitter mulibrey nanism
- c.1667+9C>T Single submitter mulibrey nanism
- c.1753+4A>G Single submitter
- c.1948+5A>G Single submitter
- c.21+6G>A Single submitter
- c.2576+5A>C Single submitter
- c.2695+11A>G Single submitter mulibrey nanism
- c.369+8G>C Single submitter mulibrey nanism
- c.617-3C>G Single submitter
- c.684+16A>G Single submitter
- c.-100C>T Single submitter mulibrey nanism
- c.-18C>T Single submitter mulibrey nanism
- c.-203C>A Single submitter mulibrey nanism
- c.-228C>G Single submitter mulibrey nanism
- c.-230C>T Single submitter mulibrey nanism
- c.-244C>T Single submitter mulibrey nanism
- c.-296G>T Single submitter mulibrey nanism
- c.-334C>G Single submitter mulibrey nanism
- c.-335T>A Single submitter mulibrey nanism
- c.-365G>A Single submitter mulibrey nanism
- c.-389G>T Single submitter mulibrey nanism
- c.-419G>T Single submitter mulibrey nanism
- c.*1029A>G Single submitter mulibrey nanism
- c.*1030T>C Single submitter mulibrey nanism
- c.*1060C>G Single submitter mulibrey nanism
- c.*1084C>T Single submitter mulibrey nanism
- c.*118G>T Single submitter mulibrey nanism
- c.*172C>T Single submitter mulibrey nanism
- c.*235G>A Single submitter mulibrey nanism
- c.*344G>A Single submitter mulibrey nanism
- c.*369C>T Single submitter mulibrey nanism
- c.*381T>C Single submitter mulibrey nanism
- c.*484G>A Single submitter mulibrey nanism
- c.*594A>G Single submitter mulibrey nanism
- c.*598C>T Single submitter mulibrey nanism
- c.*622T>C Single submitter mulibrey nanism
- c.*663T>C Single submitter mulibrey nanism
- c.*836A>G Single submitter mulibrey nanism
- c.*925G>T Single submitter mulibrey nanism
- c.*961A>G Single submitter mulibrey nanism
- c.*963A>G Single submitter mulibrey nanism
- p.Ala10Val Single submitter ⚠
- p.Ala133Gly Single submitter mulibrey nanism ⚠
- p.Ala191Gly Single submitter ⚠
- p.Ala584Thr Single submitter mulibrey nanism ⚠
- p.Ala606Thr Single submitter mulibrey nanism ⚠
- p.Ala643Gly Single submitter Inborn genetic diseases ⚠
- p.Ala69Ser Single submitter Inborn genetic diseases ⚠
- p.Ala777Thr Single submitter Inborn genetic diseases ⚠
- p.Ala892= Single submitter mulibrey nanism
- p.Arg14Gln Single submitter ⚠
- p.Arg192Trp Single submitter Inborn genetic diseases ⚠
- p.Arg23Trp Single submitter Inborn genetic diseases ⚠
- p.Arg26His Single submitter ⚠
- p.Arg344His Single submitter ⚠
- p.Arg380Cys Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg446Gln Single submitter Inborn genetic diseases ⚠
- p.Arg55Cys Single submitter Inborn genetic diseases ⚠
- p.Arg600Thr Single submitter Inborn genetic diseases ⚠
- p.Arg628Trp Single submitter Inborn genetic diseases ⚠
- p.Arg667Gln Single submitter ⚠
- p.Arg751Gln Single submitter ⚠
- p.Arg785Cys Single submitter ⚠
- p.Arg828Gln Single submitter Inborn genetic diseases ⚠
- p.Asn317Ser Single submitter ⚠
- p.Asn545Ser Single submitter ⚠
- p.Asn566Lys Single submitter ⚠
- p.Asn861Asp Single submitter Inborn genetic diseases ⚠
- p.Asn877Asp Single submitter Inborn genetic diseases ⚠
- p.Asn957Ser Single submitter ⚠
- p.Asp2Glu Single submitter Inborn genetic diseases ⚠
- p.Asp366Val Single submitter ⚠
- p.Asp465Gly Single submitter mulibrey nanism ⚠
- p.Asp519His Single submitter Inborn genetic diseases ⚠
- p.Asp552Val Single submitter Inborn genetic diseases ⚠
- p.Asp561Val Single submitter Inborn genetic diseases ⚠
- p.Asp577Asn Single submitter Inborn genetic diseases ⚠
- p.Asp93Asn Single submitter Inborn genetic diseases ⚠
- p.Cys112Trp Single submitter Inborn genetic diseases ⚠
- p.Cys724Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys790Arg Single submitter ⚠
- p.Cys790Ser Single submitter Inborn genetic diseases ⚠
- p.Gln223Arg Single submitter Inborn genetic diseases ⚠
- p.Gln249Glu Single submitter ⚠
- p.Gln393Glu Single submitter Inborn genetic diseases ⚠
- p.Gln432Arg Single submitter ⚠
- p.Gln829His Single submitter mulibrey nanism ⚠
- p.Gln885His Single submitter ⚠
- p.Glu502del Single submitter
- p.Glu512Lys Single submitter Inborn genetic diseases ⚠
- p.Glu525Gly Single submitter Inborn genetic diseases ⚠
- p.Glu554Gly Single submitter Inborn genetic diseases ⚠
- p.Glu559Ala Single submitter Inborn genetic diseases ⚠
- p.Glu684Lys Single submitter Inborn genetic diseases ⚠
- p.Glu795= Single submitter
- p.Glu826Lys Single submitter ⚠
- p.Glu897Lys Single submitter ⚠
- p.Glu960Lys Single submitter ⚠
- p.Gly126dup Single submitter
- p.Gly485Ser Single submitter Inborn genetic diseases ⚠
- p.Gly636Asp Single submitter Inborn genetic diseases ⚠
- p.Gly730Ser Single submitter Inborn genetic diseases ⚠
- p.Gly804del Single submitter
- p.Gly864Glu Single submitter Inborn genetic diseases ⚠
- p.His115Tyr Single submitter ⚠
- p.His252Arg Single submitter Inborn genetic diseases ⚠
- p.His602Tyr Single submitter ⚠
- p.His99Asn Single submitter Inborn genetic diseases ⚠
- p.Ile202Met Single submitter Inborn genetic diseases ⚠
- p.Ile419Val Single submitter Inborn genetic diseases ⚠
- p.Ile430Met Single submitter ⚠
- p.Ile631Thr Single submitter ⚠
- p.Ile750Thr Single submitter ⚠
- p.Ile818Val Single submitter Inborn genetic diseases ⚠
- p.Leu229Met Single submitter mulibrey nanism ⚠
- p.Leu460Pro Single submitter Inborn genetic diseases ⚠
- p.Leu60Pro Single submitter Inborn genetic diseases ⚠
- p.Leu672Val Single submitter Inborn genetic diseases ⚠
- p.Leu875Met Single submitter ⚠
- p.Leu875Val Single submitter Inborn genetic diseases ⚠
- p.Lys495Arg Single submitter Inborn genetic diseases ⚠
- p.Lys626Glu Single submitter Inborn genetic diseases ⚠
- p.Lys679Thr Single submitter mulibrey nanism ⚠
- p.Lys787Arg Single submitter Inborn genetic diseases ⚠
- p.Lys831Arg Single submitter Inborn genetic diseases ⚠
- p.Lys92Met Single submitter Inborn genetic diseases ⚠
- p.Met246Thr Single submitter ⚠
- p.Met567Lys Single submitter mulibrey nanism ⚠
- p.Met674Ile Single submitter ⚠
- p.Phe16Leu Single submitter ⚠
- p.Phe281Val Single submitter Inborn genetic diseases ⚠
- p.Pro266Ser Single submitter mulibrey nanism ⚠
- p.Pro57Leu Single submitter ⚠
- p.Pro583Thr Single submitter Inborn genetic diseases ⚠
- p.Pro761Leu Single submitter mulibrey nanism ⚠
- p.Pro798Ala Single submitter Inborn genetic diseases ⚠
- p.Pro886Arg Single submitter Inborn genetic diseases ⚠
- p.Ser220Phe Single submitter ⚠
- p.Ser287Arg Single submitter ⚠
- p.Ser339Thr Single submitter ⚠
- p.Ser351Phe Single submitter ⚠
- p.Ser478Thr Single submitter Inborn genetic diseases ⚠
- p.Ser586Asn Single submitter Inborn genetic diseases ⚠
- p.Ser595Gly Single submitter ⚠
- p.Ser610Gly Single submitter ⚠
- p.Ser644Thr Single submitter Inborn genetic diseases ⚠
- p.Ser715Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser758Asn Single submitter Inborn genetic diseases ⚠
- p.Ser771Asn Single submitter Inborn genetic diseases ⚠
- p.Ser801Phe Single submitter Inborn genetic diseases ⚠
- p.Ser809Pro Single submitter Inborn genetic diseases ⚠
- p.Ser817Asn Single submitter Inborn genetic diseases ⚠
- p.Ser893Leu Single submitter ⚠
- p.Thr141Asn Single submitter Inborn genetic diseases ⚠
- p.Thr203Ile Single submitter ⚠
- p.Thr280Ser Single submitter Inborn genetic diseases ⚠
- p.Thr555Ala Single submitter Inborn genetic diseases ⚠
- p.Thr690Ser Single submitter Inborn genetic diseases ⚠
- p.Thr711Ala Single submitter ⚠
- p.Thr754Ala Single submitter Inborn genetic diseases ⚠
- p.Thr873Ala Single submitter ⚠
- p.Thr939Ile Single submitter mulibrey nanism ⚠
- p.Trp373Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr136Cys Single submitter mulibrey nanism ⚠
- p.Tyr136His Single submitter Inborn genetic diseases ⚠
- p.Tyr652Cys Single submitter Inborn genetic diseases ⚠
- p.Val171= Single submitter
- p.Val273Met Single submitter Inborn genetic diseases ⚠
- p.Val397Leu Single submitter ⚠
- p.Val523Ile Single submitter Inborn genetic diseases ⚠
- p.Val562Leu Single submitter Inborn genetic diseases ⚠
- p.Val668Met Single submitter mulibrey nanism ⚠
- p.Val838Leu Single submitter ⚠
- p.Cys748Tyr No assertion criteria mulibrey nanism ⚠
- p.Glu71del No assertion criteria TRIM37-related disorder
- p.Tyr749Ser No assertion criteria TRIM37-related disorder ⚠
- p.Val312Ile No assertion criteria mulibrey nanism ⚠