PANK2 — 564 ClinVar variants

All ClinVar germline PANK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

62 Pathogenic · 25 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 34 Conflicting · 21 Benign · 10 Benign/Likely benign · 207 Likely benign · 168 Uncertain significance

Full PANK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

PANK2 p.Arg247Trp Pathogenic Multiple submitters
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
PANK2 p.Thr418Met Pathogenic/Likely pathogenic Multiple submitters
PANK2-related disorder
PANK2 p.Tyr426Cys Pathogenic/Likely pathogenic Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Ile394Val Likely pathogenic Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu453Phe Likely pathogenic Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Thr179Ser Likely pathogenic Single submitter
pantothenate kinase-associated neurodegeneration

Predictors agree, ClinVar conflicts 15

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

PANK2 p.Arg371Pro Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Asn245Ser Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Asn294Ile Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Asp337Gly Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Asp342Gly Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Asp342Tyr Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Cys262Tyr Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Gly105Glu Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.His12Tyr Conflicting Single submitter
Inborn genetic diseases
PANK2 p.Ile419Val Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Lys296Ile Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Pro460Leu Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ser21Pro Conflicting Single submitter
Inborn genetic diseases
PANK2 p.Thr124Ala Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Tyr295Asp Conflicting Single submitter
pantothenate kinase-associated neurodegeneration

Predictors lean, ClinVar uncertain 109

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

PANK2 p.Ala257Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Arg168Cys Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Arg330His Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Arg381Ser Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Arg3Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Arg422Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Arg44Leu Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Asn401Asp Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Cys313Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Cys318Tyr Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Ile153Phe Uncertain significance Multiple submitters
PANK2 p.Ile218Val Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Ile236Val Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu142Arg Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu27Ile Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Lys169Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Lys296Arg Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Met182Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Met397Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Pro120Ser Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Pro35Leu Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Thr32Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Thr334Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Trp13Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Tyr141Cys Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Tyr238Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Val11Ile Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Ala324Asp Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ala399Thr Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Arg139Pro Uncertain significance Single submitter
PANK2 p.Arg168His Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Arg176Gly Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Arg25Leu Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Arg25Pro Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Arg371Gly Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Arg396Ser Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Arg7Gln Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Asp107Gly Uncertain significance Single submitter
PANK2 p.Asp155Val Uncertain significance Single submitter
PANK2 p.Asp191Glu Uncertain significance Single submitter
PANK2 p.Asp268Tyr Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Asp293Asn Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Asp337Asn Uncertain significance Single submitter
PANK2 p.Asp429Asn Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Cys312Ser Uncertain significance Single submitter
PANK2 p.Glu128Gly Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Glu129Asp Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Glu131Asp Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Glu159Lys Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Gly189Asp Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Gly317Arg Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Gly451Glu Uncertain significance Single submitter
PANK2 p.Gly5Glu Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.His173Gln Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.His173Pro Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.His180Arg Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Ile108Leu Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ile123Val Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ile233Met Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ile280Asn Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ile387Thr Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ile459Ser Uncertain significance Single submitter
PANK2 p.Ile459Val Uncertain significance Single submitter
PANK2 p.Leu106Gln Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu142Gln Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu158Phe Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Leu19Phe Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu232Ser Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu237Ser Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu26Phe Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Leu275Met Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Leu29Arg Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Leu311Arg Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu379Pro Uncertain significance Single submitter
PANK2 p.Leu384Phe Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu384Trp Uncertain significance Single submitter
PANK2 p.Leu400Arg Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Leu40Phe Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Lys437Glu Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Met366Lys Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Phe211Cys Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Phe244Cys Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Phe308Cys Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Phe440Leu Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Pro256Ala Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Pro256Leu Uncertain significance Single submitter
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
PANK2 p.Pro91Arg Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ser134Arg Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Ser144Phe Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ser20Phe Uncertain significance Single submitter
PANK2 p.Ser20Pro Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ser259Cys Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ser282Leu Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ser285Asn Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ser367Asn Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ser441Leu Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ser76Leu Uncertain significance Single submitter
PANK2 p.Thr307Ser Uncertain significance Single submitter
PANK2 p.Thr316Ala Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Thr38Asn Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Thr54Ala Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Tyr251Cys Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Tyr252Asn Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Val289Leu Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Val336Met Uncertain significance Single submitter
PANK2 p.Val340Leu Uncertain significance Single submitter
PANK2 p.Val374Ala Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Thr179Ala Uncertain significance No assertion criteria
optic atrophy
PANK2 p.Thr388Ile Uncertain significance No assertion criteria

Predictors split 41

The independent predictors disagree with each other — read with care.

PANK2 p.Ala452Thr Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Arg350Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Arg371Gln Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Asn145Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Gly246Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PANK2 p.Pro272Leu Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Thr151Ala Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Thr320Ala Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Val156Met Uncertain significance Multiple submitters
pantothenate kinase-associated neurodegeneration
PANK2 p.Ala288Thr Uncertain significance Single submitter
PANK2 p.Arg190Gly Uncertain significance Single submitter
PANK2 p.Arg330Cys Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Asp191Gly Uncertain significance Single submitter
PANK2 p.Asp240His Uncertain significance Single submitter
PANK2 p.Asp268Gly Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Asp429Gly Uncertain significance Single submitter
PANK2 p.Asp429Tyr Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Gln222Leu Uncertain significance Single submitter
PANK2 p.Gln406Glu Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Gly219Cys Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Gly243Glu Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.His198Arg Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.His198Leu Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Ile108Val Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Ile280Val Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Lys210Arg Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Lys234Thr Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Lys368Glu Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Met365Thr Pathogenic Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Met421Ile Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Phe118Ser Pathogenic Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Ser333Gly Uncertain significance Single submitter
PANK2 p.Thr164Ile Uncertain significance Single submitter
PANK2 p.Thr319Pro Uncertain significance Single submitter
Inborn genetic diseases
PANK2 p.Thr418Arg Conflicting Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Trp356Cys Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Tyr238Cys Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Tyr290His Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Val132Leu Uncertain significance Single submitter
pantothenate kinase-associated neurodegeneration
PANK2 p.Val289Ile Uncertain significance Single submitter
PANK2 p.Ala420Thr Pathogenic No assertion criteria
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

All PANK2 variants

Pathogenic 62

c.905+1G>C Multiple submitters pantothenate kinase-associated neurodegeneration
p.Arg247Trp Multiple submitters hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration ⚠
p.Arg341Ter Multiple submitters PANK2-related disorder
p.Cys202Ter Multiple submitters pantothenate kinase-associated neurodegeneration
p.Gln222Ter Multiple submitters PANK2-related disorder
p.Glu228Ter Multiple submitters pantothenate kinase-associated neurodegeneration
p.Gly363_Asn364insTer Multiple submitters pantothenate kinase-associated neurodegeneration
p.Ile391Asn Multiple submitters pantothenate kinase-associated neurodegeneration
p.Ser81fs Multiple submitters pantothenate kinase-associated neurodegeneration
p.Tyr117Cys Multiple submitters pantothenate kinase-associated neurodegeneration
c.1083-1G>A Single submitter pantothenate kinase-associated neurodegeneration
c.299-6383A>G Single submitter pantothenate kinase-associated neurodegeneration
c.651+633C>T Single submitter pantothenate kinase-associated neurodegeneration
c.652-1G>C Single submitter pantothenate kinase-associated neurodegeneration
c.905+1G>T Single submitter pantothenate kinase-associated neurodegeneration
c.906-2A>C Single submitter pantothenate kinase-associated neurodegeneration
c.906-99_929del Single submitter pantothenate kinase-associated neurodegeneration
p.Ala382Val Single submitter pantothenate kinase-associated neurodegeneration
p.Ala395fs Single submitter
p.Arg176fs Single submitter pantothenate kinase-associated neurodegeneration
p.Arg330fs Single submitter pantothenate kinase-associated neurodegeneration
p.Arg371Ter Single submitter pantothenate kinase-associated neurodegeneration
p.Asp107fs Single submitter pantothenate kinase-associated neurodegeneration
p.Asp268_Leu269insTer Single submitter pantothenate kinase-associated neurodegeneration
p.Asp347fs Single submitter pantothenate kinase-associated neurodegeneration
p.Cys202fs Single submitter pantothenate kinase-associated neurodegeneration
p.Glu377Lys Single submitter pantothenate kinase-associated neurodegeneration
p.Gly246Ter Single submitter pantothenate kinase-associated neurodegeneration
p.Gly283_Val284insTer Single submitter pantothenate kinase-associated neurodegeneration
p.Gly317fs Single submitter pantothenate kinase-associated neurodegeneration
p.Gly392fs Single submitter pantothenate kinase-associated neurodegeneration
p.Ile280Phe Single submitter pantothenate kinase-associated neurodegeneration
p.Ile391Thr Single submitter pantothenate kinase-associated neurodegeneration
p.Leu269Ter Single submitter pantothenate kinase-associated neurodegeneration
p.Leu315Pro Single submitter pantothenate kinase-associated neurodegeneration
p.Leu453His Single submitter pantothenate kinase-associated neurodegeneration
p.Leu457Ter Single submitter pantothenate kinase-associated neurodegeneration
p.Lys136Ter Single submitter pantothenate kinase-associated neurodegeneration
p.Lys225Glu Single submitter pantothenate kinase-associated neurodegeneration
p.Met188Ile Single submitter hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
p.Met365Thr Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Met421fs Single submitter pantothenate kinase-associated neurodegeneration
p.Phe118Ser Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Phe194fs Single submitter pantothenate kinase-associated neurodegeneration
p.Phe309fs Single submitter pantothenate kinase-associated neurodegeneration
p.Phe321Ser Single submitter retinitis pigmentosa
p.Phe362fs Single submitter pantothenate kinase-associated neurodegeneration
p.Pro256fs Single submitter pantothenate kinase-associated neurodegeneration
p.Ser361_Phe362insTer Single submitter pantothenate kinase-associated neurodegeneration
p.Ser375fs Single submitter
p.Thr124fs Single submitter pantothenate kinase-associated neurodegeneration
p.Trp103Ter Single submitter pantothenate kinase-associated neurodegeneration
p.Tyr252Ter Single submitter pantothenate kinase-associated neurodegeneration
p.Val278fs Single submitter pantothenate kinase-associated neurodegeneration
p.Val407Met Single submitter pantothenate kinase-associated neurodegeneration
c.(?_-6 No assertion criteria cone-rod dystrophy
p.Ala420Thr No assertion criteria hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration ⚠
p.Met327Thr No assertion criteria pantothenate kinase-associated neurodegeneration
p.Met366fs No assertion criteria pantothenate kinase-associated neurodegeneration
p.Phe201fs No assertion criteria pantothenate kinase-associated neurodegeneration
p.Pro274Leu No assertion criteria pantothenate kinase-associated neurodegeneration
p.Ser241Pro No assertion criteria pantothenate kinase-associated neurodegeneration

Pathogenic/Likely pathogenic 25

c.1083-1G>T Multiple submitters Inborn genetic diseases
c.1207-3C>G Multiple submitters pantothenate kinase-associated neurodegeneration
c.-21G>T Multiple submitters PANK2-related disorder
p.Arg154Gln Multiple submitters pantothenate kinase-associated neurodegeneration
p.Arg154Trp Multiple submitters pantothenate kinase-associated neurodegeneration
p.Arg176Cys Multiple submitters pantothenate kinase-associated neurodegeneration
p.Arg247Pro Multiple submitters pantothenate kinase-associated neurodegeneration
p.Arg371_Glu372delinsGln Multiple submitters pantothenate kinase-associated neurodegeneration
p.Arg422Trp Multiple submitters PANK2-related disorder
p.Cys166fs Multiple submitters pantothenate kinase-associated neurodegeneration
p.Gln435fs Multiple submitters pantothenate kinase-associated neurodegeneration
p.Glu212Asp Multiple submitters pantothenate kinase-associated neurodegeneration
p.Glu212Gly Multiple submitters pantothenate kinase-associated neurodegeneration
p.Gly411Arg Multiple submitters PANK2-related disorder
p.Gly451fs Multiple submitters pantothenate kinase-associated neurodegeneration
p.His24fs Multiple submitters pantothenate kinase-associated neurodegeneration
p.Leu315del Multiple submitters pantothenate kinase-associated neurodegeneration
p.Phe308fs Multiple submitters pantothenate kinase-associated neurodegeneration
p.Pro354Arg Multiple submitters pantothenate kinase-associated neurodegeneration
p.Ser59fs Multiple submitters pantothenate kinase-associated neurodegeneration
p.Thr418Met Multiple submitters PANK2-related disorder ⚠
p.Tyr148fs Multiple submitters pantothenate kinase-associated neurodegeneration
p.Tyr252fs Multiple submitters PANK2-related disorder
p.Tyr295Ter Multiple submitters PANK2-related disorder
p.Tyr426Cys Multiple submitters pantothenate kinase-associated neurodegeneration ⚠

Likely pathogenic 37

c.1082+1G>C Multiple submitters pantothenate kinase-associated neurodegeneration
c.299-1G>A Multiple submitters pantothenate kinase-associated neurodegeneration
c.1333-2A>G Single submitter pantothenate kinase-associated neurodegeneration
c.651+1G>C Single submitter Inborn genetic diseases
c.652-2A>G Single submitter pantothenate kinase-associated neurodegeneration
c.906-1G>A Single submitter
p.Ala380Val Single submitter pantothenate kinase-associated neurodegeneration
p.Ala395Glu Single submitter pantothenate kinase-associated neurodegeneration
p.Ala399Val Single submitter pantothenate kinase-associated neurodegeneration
p.Asn390Ile Single submitter pantothenate kinase-associated neurodegeneration
p.Asp337Tyr Single submitter pantothenate kinase-associated neurodegeneration
p.Asp342Ala Single submitter pantothenate kinase-associated neurodegeneration
p.Asp342Val Single submitter pantothenate kinase-associated neurodegeneration
p.Glu323Ala Single submitter pantothenate kinase-associated neurodegeneration
p.Glu444fs Single submitter pantothenate kinase-associated neurodegeneration
p.Glu444Lys Single submitter pantothenate kinase-associated neurodegeneration
p.Gly109Ser Single submitter pantothenate kinase-associated neurodegeneration
p.Gly149Arg Single submitter pantothenate kinase-associated neurodegeneration
p.Ile34fs Single submitter PANK2-related disorder
p.Ile394Val Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ile416Ter Single submitter
p.Leu165fs Single submitter pantothenate kinase-associated neurodegeneration
p.Leu384Ser Single submitter pantothenate kinase-associated neurodegeneration
p.Leu423fs Single submitter pantothenate kinase-associated neurodegeneration
p.Leu453Phe Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Leu453Pro Single submitter pantothenate kinase-associated neurodegeneration
p.Met397fs Single submitter pantothenate kinase-associated neurodegeneration
p.Pro256Thr Single submitter pantothenate kinase-associated neurodegeneration
p.Ser195Leu Single submitter
p.Ser361Asn Single submitter pantothenate kinase-associated neurodegeneration
p.Thr179Ser Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Thr199fs Single submitter PANK2-related disorder
p.Thr319fs Single submitter pantothenate kinase-associated neurodegeneration
p.Tyr148His Single submitter pantothenate kinase-associated neurodegeneration
p.Tyr273His Single submitter pantothenate kinase-associated neurodegeneration
p.Tyr446His Single submitter pantothenate kinase-associated neurodegeneration
c.*40G>C No assertion criteria pantothenate kinase-associated neurodegeneration

Conflicting classifications of pathogenicity 34

c.1083-3_1083-2del Single submitter pantothenate kinase-associated neurodegeneration
c.1083-4A>C Single submitter pantothenate kinase-associated neurodegeneration
c.298+10C>T Single submitter pantothenate kinase-associated neurodegeneration
c.651+3A>G Single submitter pantothenate kinase-associated neurodegeneration
p.Ala15fs Single submitter PANK2-related disorder
p.Arg297= Single submitter pantothenate kinase-associated neurodegeneration
p.Arg330Cys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Arg371Pro Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Asn245Ser Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Asn294Ile Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Asp268Gly Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Asp337Gly Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Asp342Gly Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Asp342Tyr Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Cys262Tyr Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Glu260= Single submitter pantothenate kinase-associated neurodegeneration
p.Gly105Glu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Gly355= Single submitter pantothenate kinase-associated neurodegeneration
p.Gly53= Single submitter pantothenate kinase-associated neurodegeneration
p.His12Tyr Single submitter Inborn genetic diseases ⚠
p.Ile239= Single submitter pantothenate kinase-associated neurodegeneration
p.Ile419= Single submitter pantothenate kinase-associated neurodegeneration
p.Ile419Val Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Lys234Thr Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Lys296Ile Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Lys368Glu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Pro460Leu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ser18= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser21Pro Single submitter Inborn genetic diseases ⚠
p.Ser248= Single submitter pantothenate kinase-associated neurodegeneration
p.Thr124Ala Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Thr32= Single submitter pantothenate kinase-associated neurodegeneration
p.Thr418Arg Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Tyr295Asp Single submitter pantothenate kinase-associated neurodegeneration ⚠

Benign 21

c.1083-14_1083-9dup Multiple submitters pantothenate kinase-associated neurodegeneration
c.1206+264C>T Multiple submitters
c.905+99A>C Multiple submitters
c.-11G>A Multiple submitters
c.1082+109A>G Single submitter
c.1083-13del Single submitter pantothenate kinase-associated neurodegeneration
c.1206+24A>G Single submitter
c.1207-12del Single submitter pantothenate kinase-associated neurodegeneration
c.1207-12dup Single submitter pantothenate kinase-associated neurodegeneration
c.1207-300dup Single submitter
c.1332+197G>A Single submitter
c.1332+300G>A Single submitter
c.1333-257C>T Single submitter
c.298+309C>T Single submitter
c.299-14del Single submitter pantothenate kinase-associated neurodegeneration
c.299-236A>G Single submitter
c.651+199A>G Single submitter
c.652-270dup Single submitter
c.652-271_652-270dup Single submitter
c.652-273_652-272insG Single submitter
c.906-219A>G Single submitter

Benign/Likely benign 10

c.1083-13dup Multiple submitters
c.1083-14_1083-13insCCCCCT Multiple submitters pantothenate kinase-associated neurodegeneration
c.1332+16C>A Multiple submitters pantothenate kinase-associated neurodegeneration
c.2T>A Multiple submitters pantothenate kinase-associated neurodegeneration
c.652-18A>C Multiple submitters pantothenate kinase-associated neurodegeneration
c.*218A>G Multiple submitters pantothenate kinase-associated neurodegeneration
p.Asp44= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Asp46Val Multiple submitters pantothenate kinase-associated neurodegeneration
p.Leu163= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Thr320= Multiple submitters pantothenate kinase-associated neurodegeneration

Likely benign 207

c.1083-10C>T Multiple submitters pantothenate kinase-associated neurodegeneration
c.1083-14_1083-13insCCCCT Multiple submitters pantothenate kinase-associated neurodegeneration
c.1083-20T>C Multiple submitters pantothenate kinase-associated neurodegeneration
c.1207-11G>C Multiple submitters pantothenate kinase-associated neurodegeneration
c.1332+73G>A Multiple submitters
c.1333-16G>T Multiple submitters pantothenate kinase-associated neurodegeneration
c.299-158T>C Multiple submitters
c.651+82C>T Multiple submitters
c.652-7A>G Multiple submitters pantothenate kinase-associated neurodegeneration
c.905+10A>T Multiple submitters pantothenate kinase-associated neurodegeneration
c.905+14A>T Multiple submitters pantothenate kinase-associated neurodegeneration
c.906-21_906-19del Multiple submitters pantothenate kinase-associated neurodegeneration
c.906-4A>C Multiple submitters pantothenate kinase-associated neurodegeneration
c.-138G>A Multiple submitters
c.*39G>A Multiple submitters
p.Arg10= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Arg55= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Glu128= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Gly22= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Gly281= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Gly346= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Ile123= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Leu158= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Pro16= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Pro272= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Pro460= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Ser441= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Thr199= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Thr39= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Val200= Multiple submitters pantothenate kinase-associated neurodegeneration
p.Val242= Multiple submitters pantothenate kinase-associated neurodegeneration
c.1082+11A>G Single submitter pantothenate kinase-associated neurodegeneration
c.1082+12TG[4] Single submitter pantothenate kinase-associated neurodegeneration
c.1082+19del Single submitter pantothenate kinase-associated neurodegeneration
c.1082+20C>T Single submitter pantothenate kinase-associated neurodegeneration
c.1082+9_1082+10dup Single submitter pantothenate kinase-associated neurodegeneration
c.1083-12C>T Single submitter pantothenate kinase-associated neurodegeneration
c.1083-13T>C Single submitter pantothenate kinase-associated neurodegeneration
c.1083-16T>G Single submitter pantothenate kinase-associated neurodegeneration
c.1083-18T>C Single submitter pantothenate kinase-associated neurodegeneration
c.1083-5C>T Single submitter pantothenate kinase-associated neurodegeneration
c.1083-9_1083-8insTTCCCT Single submitter pantothenate kinase-associated neurodegeneration
c.1083-9C>G Single submitter pantothenate kinase-associated neurodegeneration
c.1206+11A>C Single submitter pantothenate kinase-associated neurodegeneration
c.1206+11A>G Single submitter pantothenate kinase-associated neurodegeneration
c.1206+19_1206+22del Single submitter pantothenate kinase-associated neurodegeneration
c.1206+8G>T Single submitter
c.1206+9A>G Single submitter pantothenate kinase-associated neurodegeneration
c.1207-16T>C Single submitter pantothenate kinase-associated neurodegeneration
c.1207-17T>C Single submitter pantothenate kinase-associated neurodegeneration
c.1207-20C>A Single submitter pantothenate kinase-associated neurodegeneration
c.1207-301_1207-300dup Single submitter
c.1207-5C>T Single submitter pantothenate kinase-associated neurodegeneration
c.1207-6G>A Single submitter pantothenate kinase-associated neurodegeneration
c.1332+10C>T Single submitter pantothenate kinase-associated neurodegeneration
c.1332+14T>G Single submitter pantothenate kinase-associated neurodegeneration
c.1332+16C>G Single submitter pantothenate kinase-associated neurodegeneration
c.1332+16C>T Single submitter pantothenate kinase-associated neurodegeneration
c.1332+17G>A Single submitter pantothenate kinase-associated neurodegeneration
c.1332+20G>A Single submitter pantothenate kinase-associated neurodegeneration
c.1332+8G>C Single submitter pantothenate kinase-associated neurodegeneration
c.1333-12A>G Single submitter pantothenate kinase-associated neurodegeneration
c.1333-19T>G Single submitter pantothenate kinase-associated neurodegeneration
c.1333-4T>A Single submitter pantothenate kinase-associated neurodegeneration
c.1333-8T>C Single submitter pantothenate kinase-associated neurodegeneration
c.298+100A>G Single submitter
c.298+11del Single submitter pantothenate kinase-associated neurodegeneration
c.299-12T>C Single submitter pantothenate kinase-associated neurodegeneration
c.299-12T>G Single submitter pantothenate kinase-associated neurodegeneration
c.299-18T>C Single submitter pantothenate kinase-associated neurodegeneration
c.299-250C>T Single submitter
c.299-325G>T Single submitter
c.299-6A>G Single submitter pantothenate kinase-associated neurodegeneration
c.299-9C>G Single submitter pantothenate kinase-associated neurodegeneration
c.651+16C>G Single submitter pantothenate kinase-associated neurodegeneration
c.651+19A>G Single submitter pantothenate kinase-associated neurodegeneration
c.651+24C>T Single submitter
c.651+62A>C Single submitter
c.651+7A>G Single submitter pantothenate kinase-associated neurodegeneration
c.651+9T>C Single submitter pantothenate kinase-associated neurodegeneration
c.652-11T>C Single submitter pantothenate kinase-associated neurodegeneration
c.652-12A>G Single submitter pantothenate kinase-associated neurodegeneration
c.652-14T>C Single submitter pantothenate kinase-associated neurodegeneration
c.652-15C>T Single submitter pantothenate kinase-associated neurodegeneration
c.652-16T>A Single submitter pantothenate kinase-associated neurodegeneration
c.652-18A>G Single submitter pantothenate kinase-associated neurodegeneration
c.652-19C>T Single submitter pantothenate kinase-associated neurodegeneration
c.652-9_652-5del Single submitter pantothenate kinase-associated neurodegeneration
c.905+10A>G Single submitter pantothenate kinase-associated neurodegeneration
c.905+16A>C Single submitter pantothenate kinase-associated neurodegeneration
c.905+17A>G Single submitter pantothenate kinase-associated neurodegeneration
c.905+18C>T Single submitter pantothenate kinase-associated neurodegeneration
c.905+200G>A Single submitter
c.905+22C>T Single submitter
c.906-12T>A Single submitter pantothenate kinase-associated neurodegeneration
c.906-12T>G Single submitter pantothenate kinase-associated neurodegeneration
c.906-13T>G Single submitter pantothenate kinase-associated neurodegeneration
c.906-18_906-15del Single submitter pantothenate kinase-associated neurodegeneration
c.906-19T>A Single submitter pantothenate kinase-associated neurodegeneration
c.906-5C>T Single submitter pantothenate kinase-associated neurodegeneration
c.906-8A>C Single submitter pantothenate kinase-associated neurodegeneration
c.-31T>G Single submitter pantothenate kinase-associated neurodegeneration
c.*63dup Single submitter
p.Ala14= Single submitter pantothenate kinase-associated neurodegeneration
p.Ala147= Single submitter pantothenate kinase-associated neurodegeneration
p.Ala15= Single submitter pantothenate kinase-associated neurodegeneration
p.Ala203= Single submitter pantothenate kinase-associated neurodegeneration
p.Ala208= Single submitter pantothenate kinase-associated neurodegeneration
p.Ala357= Single submitter pantothenate kinase-associated neurodegeneration
p.Ala373= Single submitter pantothenate kinase-associated neurodegeneration
p.Ala380= Single submitter pantothenate kinase-associated neurodegeneration
p.Ala382= Single submitter
p.Ala425= Single submitter pantothenate kinase-associated neurodegeneration
p.Ala427= Single submitter
p.Ala438= Single submitter pantothenate kinase-associated neurodegeneration
p.Arg13= Single submitter pantothenate kinase-associated neurodegeneration
p.Arg2= Single submitter
p.Arg3= Single submitter pantothenate kinase-associated neurodegeneration
p.Arg30Pro Single submitter pantothenate kinase-associated neurodegeneration
p.Arg33= Single submitter pantothenate kinase-associated neurodegeneration
p.Asn271= Single submitter pantothenate kinase-associated neurodegeneration
p.Asn389= Single submitter pantothenate kinase-associated neurodegeneration
p.Asn390= Single submitter pantothenate kinase-associated neurodegeneration
p.Asp155= Single submitter pantothenate kinase-associated neurodegeneration
p.Asp258= Single submitter pantothenate kinase-associated neurodegeneration
p.Asp342= Single submitter pantothenate kinase-associated neurodegeneration
p.Asp347= Single submitter pantothenate kinase-associated neurodegeneration
p.Asp51= Single submitter pantothenate kinase-associated neurodegeneration
p.Cys250= Single submitter pantothenate kinase-associated neurodegeneration
p.Gln249= Single submitter pantothenate kinase-associated neurodegeneration
p.Glu127= Single submitter pantothenate kinase-associated neurodegeneration
p.Glu129= Single submitter pantothenate kinase-associated neurodegeneration
p.Glu159= Single submitter pantothenate kinase-associated neurodegeneration
p.Glu212= Single submitter pantothenate kinase-associated neurodegeneration
p.Glu326= Single submitter pantothenate kinase-associated neurodegeneration
p.Gly109= Single submitter pantothenate kinase-associated neurodegeneration
p.Gly206= Single submitter pantothenate kinase-associated neurodegeneration
p.Gly246= Single submitter pantothenate kinase-associated neurodegeneration
p.Gly283= Single submitter pantothenate kinase-associated neurodegeneration
p.Gly317= Single submitter pantothenate kinase-associated neurodegeneration
p.Gly345= Single submitter pantothenate kinase-associated neurodegeneration
p.Gly451= Single submitter pantothenate kinase-associated neurodegeneration
p.His12= Single submitter pantothenate kinase-associated neurodegeneration
p.His180= Single submitter
p.His24= Single submitter
p.His443= Single submitter pantothenate kinase-associated neurodegeneration
p.His8= Single submitter pantothenate kinase-associated neurodegeneration
p.Ile108= Single submitter pantothenate kinase-associated neurodegeneration
p.Ile286= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu112= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu115= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu160= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu165= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu223= Single submitter
p.Leu226= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu229= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu23= Single submitter
p.Leu232= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu27= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu353= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu4= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu40= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu456= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu48= Single submitter
p.Leu50= Single submitter pantothenate kinase-associated neurodegeneration
p.Leu53= Single submitter pantothenate kinase-associated neurodegeneration
p.Lys225= Single submitter pantothenate kinase-associated neurodegeneration
p.Lys261= Single submitter pantothenate kinase-associated neurodegeneration
p.Lys292= Single submitter pantothenate kinase-associated neurodegeneration
p.Lys370= Single submitter pantothenate kinase-associated neurodegeneration
p.Phe174= Single submitter pantothenate kinase-associated neurodegeneration
p.Phe253= Single submitter pantothenate kinase-associated neurodegeneration
p.Phe28= Single submitter pantothenate kinase-associated neurodegeneration
p.Pro102= Single submitter
p.Pro35= Single submitter pantothenate kinase-associated neurodegeneration
p.Pro42= Single submitter pantothenate kinase-associated neurodegeneration
p.Pro43= Single submitter pantothenate kinase-associated neurodegeneration
p.Pro6= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser150= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser195= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser21= Single submitter
p.Ser241= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser291= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser329= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser333= Single submitter
p.Ser36= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser360= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser37= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser41= Single submitter pantothenate kinase-associated neurodegeneration
p.Ser47= Single submitter pantothenate kinase-associated neurodegeneration
p.Thr334= Single submitter pantothenate kinase-associated neurodegeneration
p.Thr38= Single submitter pantothenate kinase-associated neurodegeneration
p.Thr418= Single submitter
p.Thr72= Single submitter pantothenate kinase-associated neurodegeneration
p.Tyr148= Single submitter pantothenate kinase-associated neurodegeneration
p.Tyr238= Single submitter pantothenate kinase-associated neurodegeneration
p.Tyr273= Single submitter pantothenate kinase-associated neurodegeneration
p.Tyr426= Single submitter pantothenate kinase-associated neurodegeneration
p.Val113= Single submitter pantothenate kinase-associated neurodegeneration
p.Val116= Single submitter pantothenate kinase-associated neurodegeneration
p.Val289= Single submitter
p.Val336= Single submitter pantothenate kinase-associated neurodegeneration
p.Val358= Single submitter pantothenate kinase-associated neurodegeneration
p.Val374= Single submitter pantothenate kinase-associated neurodegeneration
p.Val55= Single submitter pantothenate kinase-associated neurodegeneration
p.Val65= Single submitter pantothenate kinase-associated neurodegeneration
c.-4G>T No assertion criteria PANK2-related disorder

Uncertain significance 168

c.*382C>T Multiple submitters pantothenate kinase-associated neurodegeneration
p.Ala257Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala452Thr Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Arg168Cys Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Arg330His Multiple submitters Inborn genetic diseases ⚠
p.Arg350Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg371Gln Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Arg381Ser Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Arg3Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg422Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg44Leu Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Asn145Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn255Lys Multiple submitters pantothenate kinase-associated neurodegeneration
p.Asn294Lys Multiple submitters pantothenate kinase-associated neurodegeneration
p.Asn401Asp Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Cys313Phe Multiple submitters Inborn genetic diseases ⚠
p.Cys318Tyr Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Gly246Glu Multiple submitters Inborn genetic diseases ⚠
p.Ile153Phe Multiple submitters ⚠
p.Ile218Val Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Ile236Val Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Leu142Arg Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Leu27Ile Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Lys169Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys296Arg Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Met182Ile Multiple submitters Inborn genetic diseases ⚠
p.Met397Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro120Ser Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Pro272Leu Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Pro35Leu Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Thr151Ala Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Thr320Ala Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Thr32Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr334Asn Multiple submitters Inborn genetic diseases ⚠
p.Trp13Arg Multiple submitters Inborn genetic diseases ⚠
p.Tyr141Cys Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Tyr238Phe Multiple submitters Inborn genetic diseases ⚠
p.Val11Ile Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
p.Val156Met Multiple submitters pantothenate kinase-associated neurodegeneration ⚠
c.1083-3C>G Single submitter
c.1207-11G>A Single submitter pantothenate kinase-associated neurodegeneration
c.1333-29_1333-8del Single submitter pantothenate kinase-associated neurodegeneration
c.651+3A>C Single submitter pantothenate kinase-associated neurodegeneration
c.651+84A>G Single submitter
c.905+252T>C Single submitter
c.*376A>G Single submitter pantothenate kinase-associated neurodegeneration
c.*391C>G Single submitter pantothenate kinase-associated neurodegeneration
c.*407A>G Single submitter pantothenate kinase-associated neurodegeneration
c.*468T>C Single submitter pantothenate kinase-associated neurodegeneration
c.*534A>G Single submitter pantothenate kinase-associated neurodegeneration
c.*541C>T Single submitter pantothenate kinase-associated neurodegeneration
c.*7C>A Single submitter
p.Ala288Thr Single submitter ⚠
p.Ala324Asp Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ala399Thr Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Arg139_Leu165dup Single submitter pantothenate kinase-associated neurodegeneration
p.Arg139Pro Single submitter ⚠
p.Arg168His Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Arg168Thr Single submitter pantothenate kinase-associated neurodegeneration
p.Arg176Gly Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Arg190Gly Single submitter ⚠
p.Arg25Leu Single submitter Inborn genetic diseases ⚠
p.Arg25Pro Single submitter Inborn genetic diseases ⚠
p.Arg371Gly Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Arg396Ser Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Arg44fs Single submitter pantothenate kinase-associated neurodegeneration
p.Arg7Gln Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Arg9Ter Single submitter pantothenate kinase-associated neurodegeneration
p.Asn417_Ile419del Single submitter pantothenate kinase-associated neurodegeneration
p.Asp107Gly Single submitter ⚠
p.Asp155Val Single submitter ⚠
p.Asp191Glu Single submitter ⚠
p.Asp191Gly Single submitter ⚠
p.Asp240His Single submitter ⚠
p.Asp268Tyr Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Asp293Asn Single submitter Inborn genetic diseases ⚠
p.Asp337Asn Single submitter ⚠
p.Asp429Asn Single submitter Inborn genetic diseases ⚠
p.Asp429Gly Single submitter ⚠
p.Asp429Tyr Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Cys312Ser Single submitter ⚠
p.Gln222Leu Single submitter ⚠
p.Gln406Glu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Glu128Gly Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Glu129Asp Single submitter Inborn genetic diseases ⚠
p.Glu131Asp Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Glu131del Single submitter
p.Glu159Lys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Glu444= Single submitter pantothenate kinase-associated neurodegeneration
p.Gly189Asp Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Gly219Cys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Gly243Glu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Gly317Arg Single submitter Inborn genetic diseases ⚠
p.Gly451Glu Single submitter ⚠
p.Gly5Glu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.His173Gln Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.His173Pro Single submitter Inborn genetic diseases ⚠
p.His180Arg Single submitter Inborn genetic diseases ⚠
p.His198Arg Single submitter Inborn genetic diseases ⚠
p.His198Leu Single submitter Inborn genetic diseases ⚠
p.Ile108Leu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ile108Val Single submitter Inborn genetic diseases ⚠
p.Ile123Val Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ile233Met Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ile280Asn Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ile280Val Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ile387Thr Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ile459Ser Single submitter ⚠
p.Ile459Val Single submitter ⚠
p.Leu106Gln Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Leu142Gln Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Leu158Phe Single submitter Inborn genetic diseases ⚠
p.Leu19Phe Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Leu232Ser Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Leu237Ser Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Leu26Phe Single submitter Inborn genetic diseases ⚠
p.Leu275Met Single submitter Inborn genetic diseases ⚠
p.Leu29Arg Single submitter Inborn genetic diseases ⚠
p.Leu311Arg Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Leu379Pro Single submitter ⚠
p.Leu384Phe Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Leu384Trp Single submitter ⚠
p.Leu400Arg Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Leu40Phe Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Lys210Arg Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Lys437Glu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Met366Lys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Met421Ile Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Phe211Cys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Phe244Cys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Phe308Cys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Phe440Leu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Pro256Ala Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Pro256Leu Single submitter hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration ⚠
p.Pro91Arg Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ser134Arg Single submitter Inborn genetic diseases ⚠
p.Ser144Phe Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ser20Phe Single submitter ⚠
p.Ser20Pro Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ser259Cys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ser282Leu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ser285Asn Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ser333Gly Single submitter ⚠
p.Ser367Asn Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ser441Leu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Ser76Leu Single submitter ⚠
p.Ter461Trp Single submitter pantothenate kinase-associated neurodegeneration
p.Thr164Ile Single submitter ⚠
p.Thr307Ser Single submitter ⚠
p.Thr316Ala Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Thr319Pro Single submitter Inborn genetic diseases ⚠
p.Thr38Asn Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Thr54Ala Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Trp13Ter Single submitter pantothenate kinase-associated neurodegeneration
p.Trp356Cys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Tyr238Cys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Tyr251Cys Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Tyr252Asn Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Tyr290His Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Tyr344_Gly352delinsMetGluPro Single submitter
p.Val132Leu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Val289Ile Single submitter ⚠
p.Val289Leu Single submitter pantothenate kinase-associated neurodegeneration ⚠
p.Val336Met Single submitter ⚠
p.Val340Leu Single submitter ⚠
p.Val374Ala Single submitter Inborn genetic diseases ⚠
p.Thr179Ala No assertion criteria optic atrophy ⚠
p.Thr388Ile No assertion criteria ⚠