COASY — 386 ClinVar variants
All ClinVar germline COASY variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →
16 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 13 Conflicting · 11 Benign · 3 Benign/Likely benign · 135 Likely benign · 194 Uncertain significance
Full COASY gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 187
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
COASY p.Ala214Val
Likely pathogenic
Multiple submitters
COASY-Related Disorders
-
COASY p.Arg377Leu
Likely pathogenic
Single submitter
isolated cerebellar hypoplasia/agenesis
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
COASY p.Ile374Val
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Lys371Arg
Conflicting
Single submitter
COASY-Related Disorders
Predictors lean, ClinVar uncertain 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
COASY p.Ala311Val
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg247His
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg302His
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg337Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg465Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Gln186Arg
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Gln54Pro
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Glu308Asp
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Glu353Asp
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Gly274Glu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Gly294Arg
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Gly294Trp
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.His539Arg
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.His80Arg
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Leu426Pro
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
- COASY p.Phe67Leu Uncertain significance Multiple submitters
-
COASY p.Ser507Thr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Thr364Ile
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
- COASY p.Tyr359Ser Uncertain significance Multiple submitters
-
COASY p.Tyr38Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Val473Leu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Ala276Thr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Ala449Thr Uncertain significance Single submitter
- COASY p.Ala471Asp Uncertain significance Single submitter
- COASY p.Ala477Thr Uncertain significance Single submitter
-
COASY p.Arg146Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg202His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Arg339Pro Uncertain significance Single submitter
- COASY p.Arg394Gln Uncertain significance Single submitter
-
COASY p.Arg458Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Arg503Met Uncertain significance Single submitter
-
COASY p.Asp117Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Asp201Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Asp564Asn
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Asp82Glu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Cys215Tyr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Cys357Tyr Uncertain significance Single submitter
-
COASY p.Cys467Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Gln119Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Glu220Lys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Glu353Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Glu502Lys Uncertain significance Single submitter
- COASY p.Gly182Glu Uncertain significance Single submitter
-
COASY p.Gly197Asp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Gly274Arg Uncertain significance Single submitter
- COASY p.Gly380Ser Uncertain significance Single submitter
- COASY p.Gly521Arg Uncertain significance Single submitter
- COASY p.His484Leu Uncertain significance Single submitter
- COASY p.Ile174Val Uncertain significance Single submitter
- COASY p.Ile443Thr Uncertain significance Single submitter
-
COASY p.Ile447Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Ile90Val Uncertain significance Single submitter
-
COASY p.Leu121Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Leu282Pro Uncertain significance Single submitter
- COASY p.Leu310Phe Uncertain significance Single submitter
-
COASY p.Leu312Ser
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Leu8Arg Uncertain significance Single submitter
-
COASY p.Lys319Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Lys330Asn Uncertain significance Single submitter
- COASY p.Lys330Glu Uncertain significance Single submitter
- COASY p.Lys434Glu Uncertain significance Single submitter
-
COASY p.Met340Ile
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Phe384Cys Uncertain significance Single submitter
- COASY p.Phe431Ser Uncertain significance Single submitter
-
COASY p.Pro128Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro128Thr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro238Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro43Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro98Ser
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Ser154Ala
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Ser183Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Ser212Ile Uncertain significance Single submitter
-
COASY p.Ser252Asn
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Ser278Pro Uncertain significance Single submitter
- COASY p.Ser513Arg Uncertain significance Single submitter
- COASY p.Ser520Arg Uncertain significance Single submitter
- COASY p.Ser56Arg Uncertain significance Single submitter
-
COASY p.Thr92Asn
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Tyr136Phe
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Val430Ala
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
Predictors split 103
The independent predictors disagree with each other — read with care.
-
COASY p.Ala206Ser
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Ala395Thr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Ala510Thr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Ala75Gly
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg135Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg293Leu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg346Trp
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg429Trp
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg453Gly
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg458Trp
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg543Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg543His
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Arg555His
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Asn205Lys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Asp230Tyr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Asp329Gly
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Gly399Arg
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Gly478Ser
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.His40Tyr
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia, type 12
-
COASY p.Ile469Thr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Ile556Val
Benign
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Leu37Val
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Leu475Pro
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Leu71Ile
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Leu71Phe
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro14Ala
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro14Leu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro347Leu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro355Leu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro557Leu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Ser183Phe
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Thr173Lys
Likely benign
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Thr441Met
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Thr69Met
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Val114Met
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Val407Leu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
-
COASY p.Val83Phe
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 6
- COASY p.Ala137Ser Uncertain significance Single submitter
- COASY p.Ala214Thr Uncertain significance Single submitter
-
COASY p.Ala29Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Ala375Val Uncertain significance Single submitter
-
COASY p.Ala383Thr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Ala402Thr Uncertain significance Single submitter
- COASY p.Ala471Thr Uncertain significance Single submitter
-
COASY p.Ala509Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Ala510Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Ala548Val Uncertain significance Single submitter
- COASY p.Arg193His Uncertain significance Single submitter
- COASY p.Arg202Gly Uncertain significance Single submitter
- COASY p.Arg202Leu Uncertain significance Single submitter
- COASY p.Arg300Cys Uncertain significance Single submitter
- COASY p.Arg339Gln Uncertain significance Single submitter
- COASY p.Arg346Gln Uncertain significance Single submitter
- COASY p.Arg394Trp Uncertain significance Single submitter
- COASY p.Arg458Pro Uncertain significance Single submitter
-
COASY p.Arg503Trp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Arg514Gln Uncertain significance Single submitter
- COASY p.Arg555Leu Uncertain significance Single submitter
- COASY p.Asn305Ser Uncertain significance Single submitter
- COASY p.Asp228His Uncertain significance Single submitter
-
COASY p.Asp279Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Asp387Tyr Uncertain significance Single submitter
- COASY p.Glu304Ala Uncertain significance Single submitter
-
COASY p.Glu327Asp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Glu353Lys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Glu408Lys Uncertain significance Single submitter
-
COASY p.Glu455Asp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Glu476Gly Uncertain significance Single submitter
- COASY p.Glu493Lys Uncertain significance Single submitter
-
COASY p.Gly295Ala
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Gly400Asp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Ile258Thr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Ile386Thr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Ile500Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Leu217Met Uncertain significance Single submitter
- COASY p.Leu22Arg Uncertain significance Single submitter
- COASY p.Leu240Val Uncertain significance Single submitter
-
COASY p.Leu282Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Leu65Ile Uncertain significance Single submitter
- COASY p.Leu65Phe Uncertain significance Single submitter
- COASY p.Lys424Asn Uncertain significance Single submitter
- COASY p.Lys438Glu Uncertain significance Single submitter
- COASY p.Phe118Leu Uncertain significance Single submitter
-
COASY p.Phe67Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro145Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Pro260Ser
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Pro268Leu Uncertain significance Single submitter
-
COASY p.Pro268Ser
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Pro538Leu Uncertain significance Single submitter
-
COASY p.Pro98Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Ser154Cys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Thr138Ile
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Thr245Ile Uncertain significance Single submitter
- COASY p.Thr27Ile Uncertain significance Single submitter
- COASY p.Tyr273Cys Uncertain significance Single submitter
-
COASY p.Tyr292Cys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Tyr396Cys Uncertain significance Single submitter
-
COASY p.Tyr72Cys
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Val104Asp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Val224Met
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
-
COASY p.Val407Ala
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
- COASY p.Val530Met Uncertain significance Single submitter
-
COASY p.Val83Ala
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 6
All COASY variants
Pathogenic 16
- p.Arg499Cys Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Gln523Ter Multiple submitters COASY-Related Disorders
- p.Asp201Ter Single submitter neurodegeneration with brain iron accumulation 6
- p.Cys357fs Single submitter neurodegeneration with brain iron accumulation
- p.Gln132Ter Single submitter
- p.Gln316Ter Single submitter neurodegeneration with brain iron accumulation 6
- p.Gln527Ter Single submitter neurodegeneration with brain iron accumulation 6
- p.Gly182fs Single submitter neurodegeneration with brain iron accumulation 6
- p.Ile469fs Single submitter neurodegeneration with brain iron accumulation 6
- p.Lys185fs Single submitter
- p.Phe62fs Single submitter neurodegeneration with brain iron accumulation 6
- p.Pro128fs Single submitter neurodegeneration with brain iron accumulation 6
- p.Thr245fs Single submitter neurodegeneration with brain iron accumulation 6
- p.Tyr141Ter Single submitter neurodegeneration with brain iron accumulation 6
- p.Tyr292Ter Single submitter neurodegeneration with brain iron accumulation 6
- p.Gln59Ter No assertion criteria neurodegeneration with brain iron accumulation 6
Pathogenic/Likely pathogenic 3
- c.1486-3C>G Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Arg377Ter Multiple submitters pontocerebellar hypoplasia, type 12
- p.Ser517fs Multiple submitters neurodegeneration with brain iron accumulation
Likely pathogenic 11
- c.1388-2A>G Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Ala214Val Multiple submitters COASY-Related Disorders ⚠
- c.1303-2A>G Single submitter
- c.1387+1G>A Single submitter pontocerebellar hypoplasia, type 12
- p.Ala30_Arg31insTer Single submitter neurodegeneration with brain iron accumulation 6
- p.Arg377Leu Single submitter isolated cerebellar hypoplasia/agenesis ⚠
- p.Gln54fs Single submitter
- p.Glu164fs Single submitter neurodegeneration with brain iron accumulation
- p.Gly432fs Single submitter Autosomal recessive COASY-related disorders
- p.Tyr38fs Single submitter neurodegeneration with brain iron accumulation 6
- p.Val196fs Single submitter pontocerebellar hypoplasia, type 12
Conflicting classifications of pathogenicity 13
- c.1237+1G>C Single submitter neurodegeneration with brain iron accumulation 6
- c.701-2A>C Single submitter neurodegeneration with brain iron accumulation 6
- c.-1C>T Single submitter neurodegeneration with brain iron accumulation 6
- p.Ala19fs Single submitter neurodegeneration with brain iron accumulation 6
- p.Arg339Ter Single submitter pontocerebellar hypoplasia, type 12
- p.Arg453Ter Single submitter neurodegeneration with brain iron accumulation 6
- p.Ile374Val Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ile469Ter Single submitter pontocerebellar hypoplasia, type 12
- p.Lys371Arg Single submitter COASY-Related Disorders ⚠
- p.Pro260Ser Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro268Ser Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Tyr191= Single submitter neurodegeneration with brain iron accumulation 6
- p.Tyr72Cys Single submitter neurodegeneration with brain iron accumulation 6 ⚠
Benign 11
- c.1302+75C>T Multiple submitters
- c.1303-86C>G Multiple submitters
- c.1486-5C>G Multiple submitters neurodegeneration with brain iron accumulation 6
- c.700+230G>T Multiple submitters
- c.701-160A>G Multiple submitters
- c.915+42C>T Multiple submitters
- p.His529= Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Ile556Val Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Ser55Tyr Multiple submitters pontocerebellar hypoplasia, type 12
- p.Thr324= Multiple submitters pontocerebellar hypoplasia, type 12
- c.1485+19dup Single submitter neurodegeneration with brain iron accumulation 6
Benign/Likely benign 3
- p.Gln52His Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Thr27= Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Thr69= Multiple submitters neurodegeneration with brain iron accumulation 6
Likely benign 135
- c.1302+19del Multiple submitters neurodegeneration with brain iron accumulation 6
- c.1302+7A>G Multiple submitters neurodegeneration with brain iron accumulation 6
- c.1303-22T>C Multiple submitters
- c.1388-8C>T Multiple submitters neurodegeneration with brain iron accumulation 6
- c.916-4C>G Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Ala148= Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Ala383= Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Ala477= Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Pro275= Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Thr173Lys Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Val248= Multiple submitters neurodegeneration with brain iron accumulation 6
- c.1047+13C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.1047+15C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.1047+6C>T Single submitter
- c.1048-11C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.1048-17C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.1048-6C>A Single submitter neurodegeneration with brain iron accumulation 6
- c.1048-8A>G Single submitter neurodegeneration with brain iron accumulation 6
- c.1237+19T>C Single submitter neurodegeneration with brain iron accumulation 6
- c.1237+7A>G Single submitter neurodegeneration with brain iron accumulation 6
- c.1238-13C>G Single submitter neurodegeneration with brain iron accumulation 6
- c.1238-16T>C Single submitter neurodegeneration with brain iron accumulation 6
- c.1302+8A>G Single submitter neurodegeneration with brain iron accumulation 6
- c.1303-14G>A Single submitter neurodegeneration with brain iron accumulation 6
- c.1303-16_1303-15del Single submitter neurodegeneration with brain iron accumulation 6
- c.1303-16C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.1303-4C>G Single submitter neurodegeneration with brain iron accumulation 6
- c.1303-8C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.1387+11G>A Single submitter neurodegeneration with brain iron accumulation 6
- c.1387+17A>G Single submitter neurodegeneration with brain iron accumulation 6
- c.1388-7C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.1485+16C>G Single submitter neurodegeneration with brain iron accumulation 6
- c.1485+16C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.1485+17C>A Single submitter neurodegeneration with brain iron accumulation 6
- c.1485+18C>G Single submitter neurodegeneration with brain iron accumulation 6
- c.1485+19C>A Single submitter neurodegeneration with brain iron accumulation 6
- c.1485+19C>G Single submitter neurodegeneration with brain iron accumulation 6
- c.1485+7C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.1485+8G>A Single submitter neurodegeneration with brain iron accumulation 6
- c.1486-12G>A Single submitter neurodegeneration with brain iron accumulation 6
- c.1486-12G>C Single submitter neurodegeneration with brain iron accumulation 6
- c.1486-13C>T Single submitter
- c.1486-6G>A Single submitter neurodegeneration with brain iron accumulation 6
- c.1633-11C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.1633-18A>G Single submitter neurodegeneration with brain iron accumulation 6
- c.1633-20A>T Single submitter neurodegeneration with brain iron accumulation 6
- c.700+11G>A Single submitter neurodegeneration with brain iron accumulation 6
- c.700+183T>A Single submitter
- c.700+19G>A Single submitter neurodegeneration with brain iron accumulation 6
- c.700+20G>C Single submitter
- c.700+7A>C Single submitter neurodegeneration with brain iron accumulation 6
- c.700+7A>G Single submitter neurodegeneration with brain iron accumulation 6
- c.700+8A>G Single submitter
- c.700+96T>C Single submitter
- c.701-18_701-16del Single submitter neurodegeneration with brain iron accumulation 6
- c.-116C>T Single submitter
- c.-200A>G Single submitter
- c.-206G>A Single submitter
- c.-235C>G Single submitter
- c.-395G>C Single submitter
- c.-439C>G Single submitter
- p.Ala137= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ala29= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ala471= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ala509= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ala510= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ala548= Single submitter neurodegeneration with brain iron accumulation 6
- p.Arg146= Single submitter neurodegeneration with brain iron accumulation 6
- p.Arg21= Single submitter neurodegeneration with brain iron accumulation 6
- p.Arg31= Single submitter
- p.Arg5= Single submitter neurodegeneration with brain iron accumulation 6
- p.Arg503= Single submitter neurodegeneration with brain iron accumulation 6
- p.Asp117= Single submitter neurodegeneration with brain iron accumulation 6
- p.Gln131= Single submitter
- p.Gln132= Single submitter neurodegeneration with brain iron accumulation 6
- p.Gln54= Single submitter neurodegeneration with brain iron accumulation 6
- p.Glu220= Single submitter neurodegeneration with brain iron accumulation 6
- p.Glu253= Single submitter neurodegeneration with brain iron accumulation 6
- p.Glu327= Single submitter
- p.Glu63= Single submitter neurodegeneration with brain iron accumulation 6
- p.Gly190= Single submitter neurodegeneration with brain iron accumulation 6
- p.Gly194= Single submitter neurodegeneration with brain iron accumulation 6
- p.Gly274= Single submitter neurodegeneration with brain iron accumulation 6
- p.Gly295= Single submitter neurodegeneration with brain iron accumulation 6
- p.Gly380= Single submitter neurodegeneration with brain iron accumulation 6
- p.Gly392= Single submitter
- p.Gly400= Single submitter
- p.Gly432= Single submitter neurodegeneration with brain iron accumulation 6
- p.His109= Single submitter neurodegeneration with brain iron accumulation 6
- p.His70= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ile366= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ile448= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ile500= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu152= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu18= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu240= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu255= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu269= Single submitter
- p.Leu307= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu32= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu358= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu37= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu391= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu41= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu426= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu440= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu551= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu563= Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu81= Single submitter neurodegeneration with brain iron accumulation 6
- p.Pro128= Single submitter neurodegeneration with brain iron accumulation 6
- p.Pro179= Single submitter neurodegeneration with brain iron accumulation 6
- p.Pro268= Single submitter neurodegeneration with brain iron accumulation 6
- p.Pro398= Single submitter
- p.Pro57= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ser139= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ser149= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ser372= Single submitter neurodegeneration with brain iron accumulation 6
- p.Thr102= Single submitter neurodegeneration with brain iron accumulation 6
- p.Thr116= Single submitter neurodegeneration with brain iron accumulation 6
- p.Thr199= Single submitter neurodegeneration with brain iron accumulation 6
- p.Thr291= Single submitter neurodegeneration with brain iron accumulation 6
- p.Thr356= Single submitter
- p.Tyr192= Single submitter neurodegeneration with brain iron accumulation 6
- p.Tyr244= Single submitter neurodegeneration with brain iron accumulation 6
- p.Tyr349Cys Single submitter neurodegeneration with brain iron accumulation 6
- p.Tyr38= Single submitter neurodegeneration with brain iron accumulation 6
- p.Val134= Single submitter neurodegeneration with brain iron accumulation 6
- p.Val161= Single submitter
- p.Val188= Single submitter neurodegeneration with brain iron accumulation 6
- p.Val287= Single submitter neurodegeneration with brain iron accumulation 6
- p.Val430= Single submitter neurodegeneration with brain iron accumulation 6
- p.Val460= Single submitter neurodegeneration with brain iron accumulation 6
- p.Val466= Single submitter neurodegeneration with brain iron accumulation 6
- p.Val501= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ala395= No assertion criteria COASY-related disorder
Uncertain significance 194
- p.Ala206Ser Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Ala311Val Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Ala395Thr Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Ala510Thr Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Ala75Gly Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg135Cys Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg247His Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg293Leu Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg302His Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg337Cys Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg346Trp Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg429Trp Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg453Gly Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg458Trp Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg465Cys Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg543Cys Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg543His Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg555His Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Asn205Lys Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Asp230Tyr Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Asp329Gly Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Gln186Arg Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Gln54Pro Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Glu308Asp Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Glu353Asp Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Gly159del Multiple submitters neurodegeneration with brain iron accumulation 6
- p.Gly274Glu Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Gly294Arg Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Gly294Trp Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Gly399Arg Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Gly478Ser Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.His40Tyr Multiple submitters pontocerebellar hypoplasia, type 12 ⚠
- p.His539Arg Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.His80Arg Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Ile469Thr Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Leu37Val Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Leu426Pro Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Leu475Pro Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Leu71Ile Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Leu71Phe Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Phe67Leu Multiple submitters ⚠
- p.Pro14Ala Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro14Leu Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro347Leu Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro355Leu Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro557Leu Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Ser183Phe Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Ser507Thr Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Thr364Ile Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Thr441Met Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Thr69Met Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Tyr359Ser Multiple submitters ⚠
- p.Tyr38Cys Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Val114Met Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Val407Leu Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Val473Leu Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- p.Val83Phe Multiple submitters neurodegeneration with brain iron accumulation 6 ⚠
- c.1047+5G>C Single submitter neurodegeneration with brain iron accumulation 6
- c.1238-24_1238-20del Single submitter pontocerebellar hypoplasia, type 12
- c.1486-9T>C Single submitter neurodegeneration with brain iron accumulation 6
- c.1632+3T>G Single submitter neurodegeneration with brain iron accumulation 6
- c.-141C>T Single submitter neurodegeneration with brain iron accumulation 6
- c.-148C>T Single submitter
- c.-198G>A Single submitter
- c.-5G>A Single submitter neurodegeneration with brain iron accumulation 6
- p.Ala137Ser Single submitter ⚠
- p.Ala214Thr Single submitter ⚠
- p.Ala276Thr Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ala29Val Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ala375Val Single submitter ⚠
- p.Ala383Thr Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ala402Thr Single submitter ⚠
- p.Ala449Thr Single submitter ⚠
- p.Ala471Asp Single submitter ⚠
- p.Ala471Thr Single submitter ⚠
- p.Ala477Thr Single submitter ⚠
- p.Ala509Pro Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ala510Val Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ala548Val Single submitter ⚠
- p.Arg146Gln Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg193His Single submitter ⚠
- p.Arg202Gly Single submitter ⚠
- p.Arg202His Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg202Leu Single submitter ⚠
- p.Arg300Cys Single submitter ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg339Pro Single submitter ⚠
- p.Arg346Gln Single submitter ⚠
- p.Arg394Gln Single submitter ⚠
- p.Arg394Trp Single submitter ⚠
- p.Arg458Gln Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg458Pro Single submitter ⚠
- p.Arg503Met Single submitter ⚠
- p.Arg503Trp Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Arg514Gln Single submitter ⚠
- p.Arg555Leu Single submitter ⚠
- p.Asn305= Single submitter neurodegeneration with brain iron accumulation 6
- p.Asn305Ser Single submitter ⚠
- p.Asn326_Glu327delinsLys Single submitter neurodegeneration with brain iron accumulation 6
- p.Asp117Val Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Asp201Gly Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Asp228His Single submitter ⚠
- p.Asp279Gly Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Asp387Tyr Single submitter ⚠
- p.Asp564Asn Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Asp82Glu Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Cys215Tyr Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Cys357Tyr Single submitter ⚠
- p.Cys467Arg Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Gln119Arg Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Gln512fs Single submitter neurodegeneration with brain iron accumulation 6
- p.Glu220Lys Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Glu304Ala Single submitter ⚠
- p.Glu327Asp Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Glu353Gln Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Glu353Lys Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Glu408Lys Single submitter ⚠
- p.Glu455Asp Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Glu476Gly Single submitter ⚠
- p.Glu493Lys Single submitter ⚠
- p.Glu502Lys Single submitter ⚠
- p.Gly182Glu Single submitter ⚠
- p.Gly197Asp Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Gly274Arg Single submitter ⚠
- p.Gly295Ala Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Gly380Ser Single submitter ⚠
- p.Gly400Asp Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Gly521Arg Single submitter ⚠
- p.His484Leu Single submitter ⚠
- p.Ile174Val Single submitter ⚠
- p.Ile258Thr Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ile386Thr Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ile443Thr Single submitter ⚠
- p.Ile447Val Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ile500Val Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ile90Val Single submitter ⚠
- p.Leu121Val Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Leu217Met Single submitter ⚠
- p.Leu22Arg Single submitter ⚠
- p.Leu240Val Single submitter ⚠
- p.Leu282Pro Single submitter ⚠
- p.Leu282Val Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Leu310Phe Single submitter ⚠
- p.Leu312Ser Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Leu65Ile Single submitter ⚠
- p.Leu65Phe Single submitter ⚠
- p.Leu87del Single submitter neurodegeneration with brain iron accumulation 6
- p.Leu8Arg Single submitter ⚠
- p.Lys319Arg Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Lys330Asn Single submitter ⚠
- p.Lys330Glu Single submitter ⚠
- p.Lys424Asn Single submitter ⚠
- p.Lys434Glu Single submitter ⚠
- p.Lys438Glu Single submitter ⚠
- p.Met340Ile Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Phe118Leu Single submitter ⚠
- p.Phe384Cys Single submitter ⚠
- p.Phe431Ser Single submitter ⚠
- p.Phe67Val Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro128Leu Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro128Thr Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro145Leu Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro238Leu Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro268Leu Single submitter ⚠
- p.Pro43Arg Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro538Leu Single submitter ⚠
- p.Pro98Leu Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Pro98Ser Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ser154Ala Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ser154Cys Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ser183Pro Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ser212Ile Single submitter ⚠
- p.Ser252Asn Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Ser278Pro Single submitter ⚠
- p.Ser288= Single submitter neurodegeneration with brain iron accumulation 6
- p.Ser513Arg Single submitter ⚠
- p.Ser520Arg Single submitter ⚠
- p.Ser56Arg Single submitter ⚠
- p.Ter565= Single submitter neurodegeneration with brain iron accumulation 6
- p.Thr138Ile Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Thr245Ile Single submitter ⚠
- p.Thr27Ile Single submitter ⚠
- p.Thr324Met Single submitter neurodegeneration with brain iron accumulation 6
- p.Thr92Asn Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Tyr136Phe Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Tyr273Cys Single submitter ⚠
- p.Tyr292Cys Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Tyr396Cys Single submitter ⚠
- p.Val104Asp Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Val224Met Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Val407Ala Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Val430Ala Single submitter neurodegeneration with brain iron accumulation 6 ⚠
- p.Val530Met Single submitter ⚠
- p.Val83Ala Single submitter neurodegeneration with brain iron accumulation 6 ⚠