RALA — 127 ClinVar variants
All ClinVar germline RALA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
5 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 1 Conflicting · 9 Benign · 3 Benign/Likely benign · 55 Likely benign · 46 Uncertain significance
Full RALA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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.
-
RALA p.Lys166Arg
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RALA p.Ala196Thr Uncertain significance Multiple submitters
-
RALA p.Phe101Ser
Uncertain significance
Multiple submitters
RALA-related disorder
- RALA p.Ala13Val Uncertain significance Single submitter
- RALA p.Ala177Val Uncertain significance Single submitter
- RALA p.Arg145Gly Uncertain significance Single submitter
- RALA p.Arg52Gln Uncertain significance Single submitter
- RALA p.Arg84Gln Uncertain significance Single submitter
- RALA p.Asn144Ser Uncertain significance Single submitter
- RALA p.Asn152Ser Uncertain significance Single submitter
- RALA p.Asn163Ile Uncertain significance Single submitter
- RALA p.Asn187Asp Uncertain significance Single submitter
-
RALA p.Glu118Asp
Uncertain significance
Single submitter
Hiatt-Neu-Cooper neurodevelopmental syndrome
- RALA p.Glu147Val Uncertain significance Single submitter
- RALA p.Gly126Asp Uncertain significance Single submitter
- RALA p.Gly24Ser Uncertain significance Single submitter
- RALA p.Ile199Met Uncertain significance Single submitter
- RALA p.Ile205Val Uncertain significance Single submitter
- RALA p.Met180Leu Uncertain significance Single submitter
- RALA p.Ser11Cys Uncertain significance Single submitter
- RALA p.Ser183Asn Uncertain significance Single submitter
- RALA p.Thr104Ala Uncertain significance Single submitter
-
RALA p.Thr160Pro
Uncertain significance
Single submitter
Hiatt-Neu-Cooper neurodevelopmental syndrome
- RALA p.Val137Ile Uncertain significance Single submitter
- RALA p.Val139Ala Uncertain significance Single submitter
- RALA p.Val139Ile Uncertain significance Single submitter
- RALA p.Val139Leu Uncertain significance Single submitter
- RALA p.Val164Ala Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- RALA p.Asp37Asn Uncertain significance Multiple submitters
- RALA p.Ala103Val Uncertain significance Single submitter
-
RALA p.Asn127His
Uncertain significance
Single submitter
Hiatt-Neu-Cooper neurodevelopmental syndrome
- RALA p.Asp74Glu Uncertain significance Single submitter
-
RALA p.Cys204Tyr
Uncertain significance
Single submitter
RALA-related disorder
- RALA p.Lys54Arg Uncertain significance Single submitter
- RALA p.Ser183Arg Uncertain significance Single submitter
All RALA variants
Pathogenic 5
- p.Ser157Phe Single submitter Neurodevelopmental delay
- p.Tyr43Cys Single submitter
- p.Val25Leu Single submitter Hiatt-Neu-Cooper neurodevelopmental syndrome
- p.Asp130Gly No assertion criteria Hiatt-Neu-Cooper neurodevelopmental syndrome
- p.Ser157Ala No assertion criteria Hiatt-Neu-Cooper neurodevelopmental syndrome
Pathogenic/Likely pathogenic 1
- p.Val25Met Multiple submitters Hiatt-Neu-Cooper neurodevelopmental syndrome
Likely pathogenic 7
- p.Thr156Ile Multiple submitters Hiatt-Neu-Cooper neurodevelopmental syndrome
- p.Ala158Thr Single submitter Hiatt-Neu-Cooper neurodevelopmental syndrome
- p.Asn144delinsAspArgPheLeuTer Single submitter Hiatt-Neu-Cooper neurodevelopmental syndrome
- p.Asp130Glu Single submitter Hiatt-Neu-Cooper neurodevelopmental syndrome
- p.Gly23Ala Single submitter Hiatt-Neu-Cooper neurodevelopmental syndrome
- p.Lys128Arg Single submitter
- p.Lys16Glu Single submitter Hiatt-Neu-Cooper neurodevelopmental syndrome
Conflicting classifications of pathogenicity 1
- p.Lys166Arg Single submitter Inborn genetic diseases ⚠
Benign 9
- c.498+5C>T Single submitter
- c.499-3T>C Single submitter
- c.499-9del Single submitter
- c.499-9dup Single submitter
- p.Ala177= Single submitter
- p.Ala177Thr Single submitter
- p.Asp170Tyr Single submitter
- p.Cys91Phe Single submitter
- p.Val154Met Single submitter
Benign/Likely benign 3
- c.114+10A>T Multiple submitters
- c.498+17T>A Multiple submitters
- p.Ala2Thr Multiple submitters
Likely benign 55
- c.324-14T>G Multiple submitters
- c.499-16T>C Multiple submitters
- c.499-9T>C Multiple submitters
- p.Glu41= Multiple submitters
- p.Lys191= Multiple submitters
- p.Ser194= Multiple submitters
- c.114+10A>G Single submitter
- c.114+12T>C Single submitter
- c.114+9T>C Single submitter
- c.115-10T>C Single submitter
- c.115-19G>A Single submitter
- c.323+16A>G Single submitter
- c.323+17T>C Single submitter
- c.323+9T>G Single submitter
- c.324-8T>C Single submitter
- c.498+14C>G Single submitter
- c.498+16_498+17del Single submitter
- c.498+17T>C Single submitter
- c.498+7C>T Single submitter
- c.498+8G>A Single submitter
- c.499-11T>C Single submitter
- c.499-17A>G Single submitter
- c.499-4C>T Single submitter
- c.499-6T>C Single submitter
- c.*7C>T Single submitter
- p.Ala103= Single submitter
- p.Ala48= Single submitter
- p.Arg113= Single submitter
- p.Arg192= Single submitter
- p.Arg198= Single submitter
- p.Asn119= Single submitter
- p.Asp37= Single submitter
- p.Asp49= Single submitter
- p.Gln136= Single submitter
- p.Glu61= Single submitter
- p.Glu73= Single submitter
- p.Gly24= Single submitter
- p.Gly71= Single submitter
- p.Gly86= Single submitter
- p.Gly88= Single submitter
- p.Ile78= Single submitter
- p.Leu195= Single submitter
- p.Lys190= Single submitter
- p.Lys197Arg Single submitter
- p.Ser157= Single submitter
- p.Thr46= Single submitter
- p.Tyr153= Single submitter
- p.Tyr75= Single submitter
- p.Val114= Single submitter
- p.Val167= Single submitter
- p.Val167Ile Single submitter
- p.Val17= Single submitter
- p.Val20= Single submitter
- p.Val62= Single submitter
- p.Val92= Single submitter
Uncertain significance 46
- p.Ala196Thr Multiple submitters ⚠
- p.Arg161Ter Multiple submitters
- p.Arg176Ter Multiple submitters
- p.Asp37Asn Multiple submitters ⚠
- p.Phe101Ser Multiple submitters RALA-related disorder ⚠
- c.114+3A>G Single submitter
- c.323+1G>A Single submitter
- c.323+4T>C Single submitter
- c.498+2dup Single submitter
- p.Ala103Thr Single submitter
- p.Ala103Val Single submitter ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala177Val Single submitter ⚠
- p.Arg108= Single submitter
- p.Arg145fs Single submitter
- p.Arg145Gly Single submitter ⚠
- p.Arg176Gln Single submitter Noonan syndrome 1
- p.Arg52Gln Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Asn127His Single submitter Hiatt-Neu-Cooper neurodevelopmental syndrome ⚠
- p.Asn144Ser Single submitter ⚠
- p.Asn152Ser Single submitter ⚠
- p.Asn163Ile Single submitter ⚠
- p.Asn187Asp Single submitter ⚠
- p.Asp74Glu Single submitter ⚠
- p.Cys204Tyr Single submitter RALA-related disorder ⚠
- p.Glu118Asp Single submitter Hiatt-Neu-Cooper neurodevelopmental syndrome ⚠
- p.Glu147Val Single submitter ⚠
- p.Gly126Asp Single submitter ⚠
- p.Gly24Ser Single submitter ⚠
- p.Ile199Met Single submitter ⚠
- p.Ile205Val Single submitter ⚠
- p.Lys190Asn Single submitter
- p.Lys54Arg Single submitter ⚠
- p.Met172Val Single submitter
- p.Met180Leu Single submitter ⚠
- p.Ser11Cys Single submitter ⚠
- p.Ser183Arg Single submitter ⚠
- p.Ser183Asn Single submitter ⚠
- p.Thr104Ala Single submitter ⚠
- p.Thr160Pro Single submitter Hiatt-Neu-Cooper neurodevelopmental syndrome ⚠
- p.Val137Ile Single submitter ⚠
- p.Val139Ala Single submitter ⚠
- p.Val139Ile Single submitter ⚠
- p.Val139Leu Single submitter ⚠
- p.Val164Ala Single submitter ⚠