XK — 124 ClinVar variants
All ClinVar germline XK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
12 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 4 Conflicting · 5 Benign · 7 Benign/Likely benign · 28 Likely benign · 64 Uncertain significance
Full XK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
XK p.Leu24Gln
Conflicting
Single submitter
XK-related neurodegenerative disease
-
XK p.Leu367Phe
Conflicting
Single submitter
Inborn genetic diseases
-
XK p.Pro407Leu
Conflicting
Single submitter
XK-related neurodegenerative disease
Predictors lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
XK p.Asn244Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XK p.Glu265Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- XK p.Ser115Pro Uncertain significance Multiple submitters
-
XK p.Ser415Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- XK p.Trp36Cys Uncertain significance Multiple submitters
- XK p.Ala139Val Uncertain significance Single submitter
-
XK p.Arg222Gly
Uncertain significance
Single submitter
XK-related neurodegenerative disease
-
XK p.Arg29Gly
Uncertain significance
Single submitter
XK-related neurodegenerative disease
-
XK p.Arg34Gly
Uncertain significance
Single submitter
XK-related neurodegenerative disease
-
XK p.Arg390Gly
Uncertain significance
Single submitter
XK-related neurodegenerative disease
- XK p.Arg64Cys Uncertain significance Single submitter
-
XK p.Asn112Ser
Uncertain significance
Single submitter
XK-related neurodegenerative disease
- XK p.Asn244Thr Uncertain significance Single submitter
-
XK p.Asp418Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.Gln52Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.Glu116Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.Glu406Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.Gly260Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- XK p.His374Tyr Uncertain significance Single submitter
-
XK p.Ile118Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- XK p.Ile241Met Uncertain significance Single submitter
-
XK p.Ile267Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- XK p.Ile357Thr Uncertain significance Single submitter
- XK p.Leu41Ser Uncertain significance Single submitter
- XK p.Leu41Val Uncertain significance Single submitter
-
XK p.Leu441Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.Lys410Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.Met292Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.Met35Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- XK p.Phe81Leu Uncertain significance Single submitter
- XK p.Pro205Ser Uncertain significance Single submitter
-
XK p.Pro99Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- XK p.Ser272Asn Uncertain significance Single submitter
- XK p.Thr174Ile Uncertain significance Single submitter
-
XK p.Thr361Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.Thr422Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- XK p.Tyr321Cys Uncertain significance Single submitter
-
XK p.Val224Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.Val232Ile
Uncertain significance
Single submitter
XK-related neurodegenerative disease
- XK p.Val368Ala Uncertain significance Single submitter
-
XK p.Val58Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- XK p.Val69Leu Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
-
XK p.Arg138Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XK p.Leu185Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XK p.Ala135Val
Uncertain significance
Single submitter
XK-related neurodegenerative disease
- XK p.Ala21Val Uncertain significance Single submitter
- XK p.Arg138Gln Uncertain significance Single submitter
- XK p.Arg60Gly Uncertain significance Single submitter
-
XK p.Gln151Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.His132Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- XK p.His59Arg Uncertain significance Single submitter
-
XK p.His59Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
XK p.Phe217Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- XK p.Phe57Leu Uncertain significance Single submitter
-
XK p.Pro67Leu
Uncertain significance
Single submitter
XK-related neurodegenerative disease
- XK p.Thr276Ile Conflicting Single submitter
All XK variants
Pathogenic 12
- p.Arg133Ter Multiple submitters XK-related disorders
- p.Leu286fs Multiple submitters
- p.Gln92Ter Single submitter
- p.Ile241fs Single submitter XK-related neurodegenerative disease
- p.Lys339Ter Single submitter Inborn genetic diseases
- c.508+1G>A No assertion criteria XK-related neurodegenerative disease
- c.509-1G>A No assertion criteria XK-related neurodegenerative disease
- p.Asn313fs No assertion criteria XK-related neurodegenerative disease
- p.Cys294Arg No assertion criteria XK-related neurodegenerative disease
- p.Gln299Ter No assertion criteria XK-related neurodegenerative disease
- p.Phe338fs No assertion criteria XK-related neurodegenerative disease
- p.Trp314Ter No assertion criteria XK-related neurodegenerative disease
Pathogenic/Likely pathogenic 1
- p.Arg222Ter Multiple submitters XK-related neurodegenerative disease
Likely pathogenic 3
- c.246-2A>T Single submitter XK-related neurodegenerative disease
- p.Ser102fs Single submitter XK-related disorders
- p.Trp257Ter No assertion criteria Elevated circulating creatine kinase activity
Conflicting classifications of pathogenicity 4
- p.Leu24Gln Single submitter XK-related neurodegenerative disease ⚠
- p.Leu367Phe Single submitter Inborn genetic diseases ⚠
- p.Pro407Leu Single submitter XK-related neurodegenerative disease ⚠
- p.Thr276Ile Single submitter ⚠
Benign 5
- c.*89A>T Multiple submitters
- p.Leu50= Multiple submitters
- p.Ala139= Single submitter
- p.Ala444= Single submitter
- p.Leu206Pro Single submitter
Benign/Likely benign 7
Likely benign 28
- p.Ile219= Multiple submitters
- p.Pro99= Multiple submitters
- c.246-8G>C Single submitter
- c.246-9del Single submitter
- c.508+11T>G Single submitter
- c.509-19C>T Single submitter
- p.Ala135= Single submitter
- p.Asn244= Single submitter
- p.Asp306= Single submitter
- p.Cys405= Single submitter
- p.Gln76= Single submitter
- p.Ile240Val Single submitter Inborn genetic diseases
- p.Leu286= Single submitter
- p.Leu332= Single submitter
- p.Leu41= Single submitter
- p.Leu68= Single submitter
- p.Leu70= Single submitter
- p.Phe14= Single submitter
- p.Phe212= Single submitter
- p.Phe325= Single submitter
- p.Pro150= Single submitter
- p.Pro99Ser Single submitter
- p.Ser311= Single submitter
- p.Thr131= Single submitter
- p.Thr235= Single submitter
- p.Thr340Asn Single submitter
- p.Thr428Ile Single submitter Inborn genetic diseases
- p.Val101= Single submitter
Uncertain significance 64
- p.Arg138Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn244Ser Multiple submitters Inborn genetic diseases ⚠
- p.Glu265Gly Multiple submitters Inborn genetic diseases ⚠
- p.Leu185Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser115Pro Multiple submitters ⚠
- p.Ser415Ala Multiple submitters Inborn genetic diseases ⚠
- p.Trp36Cys Multiple submitters ⚠
- p.Ala135Val Single submitter XK-related neurodegenerative disease ⚠
- p.Ala139Val Single submitter ⚠
- p.Ala149Val Single submitter Inborn genetic diseases
- p.Ala21Val Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg222Gly Single submitter XK-related neurodegenerative disease ⚠
- p.Arg273Ile Single submitter XK-related neurodegenerative disease
- p.Arg29Gly Single submitter XK-related neurodegenerative disease ⚠
- p.Arg34Gly Single submitter XK-related neurodegenerative disease ⚠
- p.Arg390Gly Single submitter XK-related neurodegenerative disease ⚠
- p.Arg60Gly Single submitter ⚠
- p.Arg64Cys Single submitter ⚠
- p.Asn112Ser Single submitter XK-related neurodegenerative disease ⚠
- p.Asn244Thr Single submitter ⚠
- p.Asp418Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys88= Single submitter XK-related neurodegenerative disease
- p.Gln151Glu Single submitter Inborn genetic diseases ⚠
- p.Gln52Arg Single submitter Inborn genetic diseases ⚠
- p.Glu116Lys Single submitter Inborn genetic diseases ⚠
- p.Glu406Lys Single submitter Inborn genetic diseases ⚠
- p.Gly260Ala Single submitter Inborn genetic diseases ⚠
- p.His132Asp Single submitter Inborn genetic diseases ⚠
- p.His374Tyr Single submitter ⚠
- p.His59Arg Single submitter ⚠
- p.His59Gln Single submitter Inborn genetic diseases ⚠
- p.Ile118Thr Single submitter Inborn genetic diseases ⚠
- p.Ile241Met Single submitter ⚠
- p.Ile267Thr Single submitter Inborn genetic diseases ⚠
- p.Ile357Thr Single submitter ⚠
- p.Leu379Phe Single submitter Inborn genetic diseases
- p.Leu41Ser Single submitter ⚠
- p.Leu41Val Single submitter ⚠
- p.Leu441Phe Single submitter Inborn genetic diseases ⚠
- p.Lys410Thr Single submitter Inborn genetic diseases ⚠
- p.Met292Leu Single submitter Inborn genetic diseases ⚠
- p.Met35Ile Single submitter Inborn genetic diseases ⚠
- p.Phe217Leu Single submitter Inborn genetic diseases ⚠
- p.Phe57Leu Single submitter ⚠
- p.Phe81Leu Single submitter ⚠
- p.Pro205Ser Single submitter ⚠
- p.Pro67Leu Single submitter XK-related neurodegenerative disease ⚠
- p.Pro99Ala Single submitter Inborn genetic diseases ⚠
- p.Ser272Asn Single submitter ⚠
- p.Thr174Ile Single submitter ⚠
- p.Thr221Ile Single submitter
- p.Thr361Ala Single submitter Inborn genetic diseases ⚠
- p.Thr422Ile Single submitter Inborn genetic diseases ⚠
- p.Trp314Phe Single submitter
- p.Trp397Ter Single submitter
- p.Tyr321Cys Single submitter ⚠
- p.Tyr336Cys Single submitter
- p.Tyr343Cys Single submitter
- p.Val224Ala Single submitter Inborn genetic diseases ⚠
- p.Val232Ile Single submitter XK-related neurodegenerative disease ⚠
- p.Val368Ala Single submitter ⚠
- p.Val58Ile Single submitter Inborn genetic diseases ⚠
- p.Val69Leu Single submitter ⚠