PRDM8 — 399 ClinVar variants
All ClinVar germline PRDM8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 221 flagged for review →
1 Pathogenic · 1 Conflicting · 10 Benign · 5 Benign/Likely benign · 135 Likely benign · 247 Uncertain significance
Full PRDM8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 221
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 lean, ClinVar uncertain 169
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 169
-
PRDM8 p.Ala372Thr
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Ala416Thr
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Ala529Val
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Ala540Ser
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Ala541Ser
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Ala546Val
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Arg272Trp
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Arg448Gln
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Asn631Ser
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Asp12Glu
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Asp415Glu
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Asp530Glu
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Glu412Val
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Gly194Asp
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Gly290Ser
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Gly293Ser
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Gly331Glu
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Gly359Ser
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Gly470Asp
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Gly558Val
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.His295Pro
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Leu605Val
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Phe227Ile
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Pro241Ser
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Pro430Ser
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Pro43Ser
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Pro563Arg
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Pro574Arg
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Val197Leu
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Ala172Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Ala219Glu Uncertain significance Single submitter
-
PRDM8 p.Ala230Gly
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ala248Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Ala250Val Uncertain significance Single submitter
-
PRDM8 p.Ala280Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Ala343Ser Uncertain significance Single submitter
- PRDM8 p.Ala357Val Uncertain significance Single submitter
-
PRDM8 p.Ala392Gly
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ala393Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ala395Val
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ala404Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ala410Asp
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Ala428Thr Uncertain significance Single submitter
-
PRDM8 p.Ala428Val
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Ala438Val Uncertain significance Single submitter
-
PRDM8 p.Ala469Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Ala480Val Uncertain significance Single submitter
-
PRDM8 p.Ala483Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ala529Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ala542Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Ala546Pro Uncertain significance Single submitter
- PRDM8 p.Ala552Gly Uncertain significance Single submitter
- PRDM8 p.Ala552Ser Uncertain significance Single submitter
-
PRDM8 p.Ala552Val
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ala553Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ala589Val
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ala597Val
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Arg272Gln Uncertain significance Single submitter
- PRDM8 p.Arg448Gly Uncertain significance Single submitter
-
PRDM8 p.Arg448Pro
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Arg456Lys
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Arg8Gln Uncertain significance Single submitter
-
PRDM8 p.Asn556His
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Asn625Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Asp12Asn
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Asp12Tyr Uncertain significance Single submitter
-
PRDM8 p.Asp14Asn
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Asp201Asn Uncertain significance Single submitter
- PRDM8 p.Asp211His Uncertain significance Single submitter
-
PRDM8 p.Asp64Glu
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gln212His
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gln216Leu
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gln217Glu
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gln217Lys
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gln490Glu
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gln550His
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gln550Pro
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Gln624Glu Uncertain significance Single submitter
-
PRDM8 p.Gln624Pro
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Glu299Gln
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Glu338Ala Uncertain significance Single submitter
- PRDM8 p.Glu346Gln Uncertain significance Single submitter
- PRDM8 p.Glu400Gly Uncertain significance Single submitter
-
PRDM8 p.Glu434Lys
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Glu450Asp
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly198Asp
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly208Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Gly231Ser Uncertain significance Single submitter
- PRDM8 p.Gly251Ser Uncertain significance Single submitter
- PRDM8 p.Gly288Cys Uncertain significance Single submitter
-
PRDM8 p.Gly288Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly294Cys
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly379Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Gly419Arg Uncertain significance Single submitter
- PRDM8 p.Gly419Ser Uncertain significance Single submitter
- PRDM8 p.Gly432Ala Uncertain significance Single submitter
-
PRDM8 p.Gly442Arg
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Gly443Val Uncertain significance Single submitter
-
PRDM8 p.Gly467Asp
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly470Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly476Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly484Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly565Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly5Asp
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly9Asp
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.His295Tyr Uncertain significance Single submitter
-
PRDM8 p.His527Tyr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ile40Val
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ile55Val
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ile6Asn
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Leu138Phe
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Leu233Val
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Leu283Ile
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Leu348Met
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Leu370Pro
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Leu437Pro Uncertain significance Single submitter
-
PRDM8 p.Leu545Pro
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Leu603Met
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Lys435Asn
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Lys548Arg
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Met654Val Uncertain significance Single submitter
- PRDM8 p.Phe336Val Uncertain significance Single submitter
-
PRDM8 p.Phe362Ile
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Phe41Val
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Pro220Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Pro223Leu Uncertain significance Single submitter
-
PRDM8 p.Pro237Leu
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Pro239Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Pro246Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Pro246Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Pro302Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Pro342Leu
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Pro342Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Pro352Gln
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Pro444Leu Uncertain significance Single submitter
-
PRDM8 p.Pro446Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Pro525Ala
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Pro525Arg Uncertain significance Single submitter
-
PRDM8 p.Pro539Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Pro544Leu Uncertain significance Single submitter
- PRDM8 p.Pro600Ser Uncertain significance Single submitter
-
PRDM8 p.Pro613Arg
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Pro656Leu
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Ser243Asn Uncertain significance Single submitter
-
PRDM8 p.Ser243Ile
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ser247Cys
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ser253Gly
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ser254Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ser282Thr
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ser287Arg
Uncertain significance
Single submitter
early-onset Lafora body disease
Predictors split 52
The independent predictors disagree with each other — read with care.
-
PRDM8 p.Gly485Asp
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Gly551Arg
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Leu611Pro
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Lys667Arg
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Pro656Ser
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Ser458Arg
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Thr49Asn
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Val68Ile
Uncertain significance
Multiple submitters
early-onset Lafora body disease
-
PRDM8 p.Ala580Val
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Ala589Ser Uncertain significance Single submitter
-
PRDM8 p.Ala593Pro
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Ala594Thr Uncertain significance Single submitter
-
PRDM8 p.Arg266Trp
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Arg383Cys
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Arg645Lys Uncertain significance Single submitter
- PRDM8 p.Arg661Trp Uncertain significance Single submitter
-
PRDM8 p.Gln20Lys
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Gln215His Uncertain significance Single submitter
-
PRDM8 p.Glu380Lys
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Glu388Asp
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly204Asp
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly207Asp
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly363Arg
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Gly476Asp Uncertain significance Single submitter
- PRDM8 p.Gly477Glu Uncertain significance Single submitter
-
PRDM8 p.Gly479Asp
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly481Arg
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly485Cys
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Gly599Arg
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ile55Lys
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ile58Val
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Leu549Arg
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Leu576Gln
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Lys229Asn
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Lys256Thr Uncertain significance Single submitter
-
PRDM8 p.Lys391Asn
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Lys548Asn Uncertain significance Single submitter
- PRDM8 p.Lys629Asn Uncertain significance Single submitter
-
PRDM8 p.Phe362Leu
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Pro374Arg Uncertain significance Single submitter
- PRDM8 p.Pro606Ser Uncertain significance Single submitter
- PRDM8 p.Ser462Leu Uncertain significance Single submitter
-
PRDM8 p.Ser633Ala
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Ser674Pro
Uncertain significance
Single submitter
early-onset Lafora body disease
- PRDM8 p.Thr259Arg Uncertain significance Single submitter
-
PRDM8 p.Thr579Ile
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Thr686Ser
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Trp582Arg
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Tyr652Cys
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Val29Ile
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Val389Ala
Uncertain significance
Single submitter
early-onset Lafora body disease
-
PRDM8 p.Phe261Leu
Pathogenic
No assertion criteria
early-onset Lafora body disease
All PRDM8 variants
Pathogenic 1
- p.Phe261Leu No assertion criteria early-onset Lafora body disease ⚠
Conflicting classifications of pathogenicity 1
- p.Gln217dup Single submitter early-onset Lafora body disease
Benign 10
- p.Arg660= Multiple submitters early-onset Lafora body disease
- p.Cys350= Multiple submitters early-onset Lafora body disease
- p.Leu576= Multiple submitters early-onset Lafora body disease
- p.Ser561= Multiple submitters early-onset Lafora body disease
- c.219+71T>A Single submitter
- c.-982-8_-982-4dup Single submitter
- p.Ala39= Single submitter early-onset Lafora body disease
- p.Ala593_Ala598del Single submitter early-onset Lafora body disease
- p.Leu619= Single submitter early-onset Lafora body disease
- p.Pro464Ser Single submitter early-onset Lafora body disease
Benign/Likely benign 5
- p.Ala483Ser Multiple submitters early-onset Lafora body disease
- p.Gly379= Multiple submitters early-onset Lafora body disease
- p.Pro241Gln Multiple submitters early-onset Lafora body disease
- p.Ser254= Multiple submitters early-onset Lafora body disease
- p.Val337= Multiple submitters early-onset Lafora body disease
Likely benign 135
- p.Ala185= Multiple submitters early-onset Lafora body disease
- p.Ala438= Multiple submitters early-onset Lafora body disease
- p.Ala469= Multiple submitters early-onset Lafora body disease
- p.Ala589= Multiple submitters early-onset Lafora body disease
- p.Ala594= Multiple submitters early-onset Lafora body disease
- p.Leu549= Multiple submitters early-onset Lafora body disease
- c.219+13T>C Single submitter early-onset Lafora body disease
- c.219+17G>A Single submitter early-onset Lafora body disease
- c.219+17G>T Single submitter early-onset Lafora body disease
- p.Ala249= Single submitter
- p.Ala250= Single submitter early-onset Lafora body disease
- p.Ala265= Single submitter early-onset Lafora body disease
- p.Ala306= Single submitter early-onset Lafora body disease
- p.Ala385= Single submitter early-onset Lafora body disease
- p.Ala428= Single submitter early-onset Lafora body disease
- p.Ala482= Single submitter early-onset Lafora body disease
- p.Ala522= Single submitter early-onset Lafora body disease
- p.Ala546= Single submitter early-onset Lafora body disease
- p.Ala553= Single submitter early-onset Lafora body disease
- p.Ala588= Single submitter early-onset Lafora body disease
- p.Ala594_Gly599del Single submitter early-onset Lafora body disease
- p.Ala596= Single submitter early-onset Lafora body disease
- p.Ala628= Single submitter early-onset Lafora body disease
- p.Ala653= Single submitter early-onset Lafora body disease
- p.Arg266= Single submitter early-onset Lafora body disease
- p.Arg339= Single submitter early-onset Lafora body disease
- p.Arg394= Single submitter early-onset Lafora body disease
- p.Arg662= Single submitter early-onset Lafora body disease
- p.Asn556= Single submitter early-onset Lafora body disease
- p.Asn625= Single submitter early-onset Lafora body disease
- p.Asp123= Single submitter early-onset Lafora body disease
- p.Asp191= Single submitter early-onset Lafora body disease
- p.Asp211= Single submitter early-onset Lafora body disease
- p.Asp405= Single submitter early-onset Lafora body disease
- p.Asp413= Single submitter early-onset Lafora body disease
- p.Asp415= Single submitter early-onset Lafora body disease
- p.Asp53= Single submitter early-onset Lafora body disease
- p.Cys559= Single submitter early-onset Lafora body disease
- p.Cys627= Single submitter early-onset Lafora body disease
- p.Gln19= Single submitter early-onset Lafora body disease
- p.Gln213= Single submitter early-onset Lafora body disease
- p.Gln399= Single submitter early-onset Lafora body disease
- p.Gln572= Single submitter early-onset Lafora body disease
- p.Gln604= Single submitter early-onset Lafora body disease
- p.Glu218= Single submitter early-onset Lafora body disease
- p.Glu346= Single submitter early-onset Lafora body disease
- p.Glu366= Single submitter early-onset Lafora body disease
- p.Glu400= Single submitter early-onset Lafora body disease
- p.Glu412= Single submitter early-onset Lafora body disease
- p.Glu450= Single submitter early-onset Lafora body disease
- p.Gly206= Single submitter early-onset Lafora body disease
- p.Gly208= Single submitter
- p.Gly209= Single submitter early-onset Lafora body disease
- p.Gly222= Single submitter early-onset Lafora body disease
- p.Gly274= Single submitter early-onset Lafora body disease
- p.Gly286= Single submitter early-onset Lafora body disease
- p.Gly304Arg Single submitter early-onset Lafora body disease
- p.Gly326= Single submitter early-onset Lafora body disease
- p.Gly359= Single submitter early-onset Lafora body disease
- p.Gly363= Single submitter early-onset Lafora body disease
- p.Gly368= Single submitter early-onset Lafora body disease
- p.Gly406= Single submitter early-onset Lafora body disease
- p.Gly408= Single submitter early-onset Lafora body disease
- p.Gly417= Single submitter early-onset Lafora body disease
- p.Gly420= Single submitter early-onset Lafora body disease
- p.Gly442= Single submitter early-onset Lafora body disease
- p.Gly474= Single submitter early-onset Lafora body disease
- p.Gly475= Single submitter early-onset Lafora body disease
- p.Gly476= Single submitter early-onset Lafora body disease
- p.Gly479= Single submitter early-onset Lafora body disease
- p.Gly487= Single submitter early-onset Lafora body disease
- p.Gly557= Single submitter early-onset Lafora body disease
- p.Gly558= Single submitter early-onset Lafora body disease
- p.Gly560= Single submitter early-onset Lafora body disease
- p.Gly566= Single submitter early-onset Lafora body disease
- p.Gly567= Single submitter early-onset Lafora body disease
- p.His295= Single submitter early-onset Lafora body disease
- p.His643= Single submitter early-onset Lafora body disease
- p.His680= Single submitter early-onset Lafora body disease
- p.Leu221= Single submitter early-onset Lafora body disease
- p.Leu268= Single submitter early-onset Lafora body disease
- p.Leu364= Single submitter early-onset Lafora body disease
- p.Leu398= Single submitter early-onset Lafora body disease
- p.Leu436= Single submitter early-onset Lafora body disease
- p.Leu445= Single submitter early-onset Lafora body disease
- p.Leu466= Single submitter early-onset Lafora body disease
- p.Leu523= Single submitter early-onset Lafora body disease
- p.Leu537= Single submitter early-onset Lafora body disease
- p.Leu555= Single submitter early-onset Lafora body disease
- p.Leu569= Single submitter early-onset Lafora body disease
- p.Leu603= Single submitter early-onset Lafora body disease
- p.Leu609= Single submitter early-onset Lafora body disease
- p.Leu611= Single submitter early-onset Lafora body disease
- p.Leu681= Single submitter early-onset Lafora body disease
- p.Lys210= Single submitter early-onset Lafora body disease
- p.Lys229= Single submitter early-onset Lafora body disease
- p.Lys345= Single submitter early-onset Lafora body disease
- p.Lys382= Single submitter early-onset Lafora body disease
- p.Lys650= Single submitter early-onset Lafora body disease
- p.Phe386= Single submitter early-onset Lafora body disease
- p.Phe460= Single submitter early-onset Lafora body disease
- p.Phe575= Single submitter early-onset Lafora body disease
- p.Phe581= Single submitter early-onset Lafora body disease
- p.Pro220= Single submitter early-onset Lafora body disease
- p.Pro225= Single submitter early-onset Lafora body disease
- p.Pro425= Single submitter early-onset Lafora body disease
- p.Pro430= Single submitter early-onset Lafora body disease
- p.Pro446= Single submitter early-onset Lafora body disease
- p.Pro454= Single submitter early-onset Lafora body disease
- p.Pro464= Single submitter early-onset Lafora body disease
- p.Pro613= Single submitter early-onset Lafora body disease
- p.Pro656= Single submitter early-onset Lafora body disease
- p.Pro669= Single submitter early-onset Lafora body disease
- p.Pro69= Single submitter early-onset Lafora body disease
- p.Ser188= Single submitter early-onset Lafora body disease
- p.Ser258= Single submitter early-onset Lafora body disease
- p.Ser289= Single submitter early-onset Lafora body disease
- p.Ser411= Single submitter early-onset Lafora body disease
- p.Ser473= Single submitter early-onset Lafora body disease
- p.Ser564= Single submitter early-onset Lafora body disease
- p.Ser607= Single submitter early-onset Lafora body disease
- p.Ser615= Single submitter early-onset Lafora body disease
- p.Ser674= Single submitter early-onset Lafora body disease
- p.Ser77= Single submitter early-onset Lafora body disease
- p.Thr27= Single submitter early-onset Lafora body disease
- p.Thr307= Single submitter early-onset Lafora body disease
- p.Thr378= Single submitter early-onset Lafora body disease
- p.Thr424= Single submitter early-onset Lafora body disease
- p.Thr472= Single submitter early-onset Lafora body disease
- p.Thr478= Single submitter early-onset Lafora body disease
- p.Thr579= Single submitter early-onset Lafora body disease
- p.Tyr30= Single submitter early-onset Lafora body disease
- p.Tyr652= Single submitter early-onset Lafora body disease
- p.Val197= Single submitter early-onset Lafora body disease
- p.Val389= Single submitter early-onset Lafora body disease
Uncertain significance 247
- p.Ala372Thr Multiple submitters early-onset Lafora body disease ⚠
- p.Ala416Thr Multiple submitters early-onset Lafora body disease ⚠
- p.Ala529Val Multiple submitters early-onset Lafora body disease ⚠
- p.Ala540Ser Multiple submitters early-onset Lafora body disease ⚠
- p.Ala541Ser Multiple submitters early-onset Lafora body disease ⚠
- p.Ala546Val Multiple submitters early-onset Lafora body disease ⚠
- p.Arg272Trp Multiple submitters early-onset Lafora body disease ⚠
- p.Arg448Gln Multiple submitters early-onset Lafora body disease ⚠
- p.Asn631Ser Multiple submitters early-onset Lafora body disease ⚠
- p.Asp12Glu Multiple submitters early-onset Lafora body disease ⚠
- p.Asp415Glu Multiple submitters early-onset Lafora body disease ⚠
- p.Asp530Glu Multiple submitters early-onset Lafora body disease ⚠
- p.Glu412Val Multiple submitters early-onset Lafora body disease ⚠
- p.Gly194Asp Multiple submitters early-onset Lafora body disease ⚠
- p.Gly290Ser Multiple submitters early-onset Lafora body disease ⚠
- p.Gly293Ser Multiple submitters early-onset Lafora body disease ⚠
- p.Gly331Glu Multiple submitters early-onset Lafora body disease ⚠
- p.Gly359Ser Multiple submitters early-onset Lafora body disease ⚠
- p.Gly470Asp Multiple submitters early-onset Lafora body disease ⚠
- p.Gly485Asp Multiple submitters early-onset Lafora body disease ⚠
- p.Gly551Arg Multiple submitters early-onset Lafora body disease ⚠
- p.Gly558Val Multiple submitters early-onset Lafora body disease ⚠
- p.His295Pro Multiple submitters early-onset Lafora body disease ⚠
- p.Leu605Val Multiple submitters early-onset Lafora body disease ⚠
- p.Leu611Pro Multiple submitters early-onset Lafora body disease ⚠
- p.Lys667Arg Multiple submitters early-onset Lafora body disease ⚠
- p.Phe227Ile Multiple submitters early-onset Lafora body disease ⚠
- p.Pro241Ser Multiple submitters early-onset Lafora body disease ⚠
- p.Pro430Ser Multiple submitters early-onset Lafora body disease ⚠
- p.Pro43Ser Multiple submitters early-onset Lafora body disease ⚠
- p.Pro563Arg Multiple submitters early-onset Lafora body disease ⚠
- p.Pro574Arg Multiple submitters early-onset Lafora body disease ⚠
- p.Pro656Ser Multiple submitters early-onset Lafora body disease ⚠
- p.Ser458Arg Multiple submitters early-onset Lafora body disease ⚠
- p.Thr49Asn Multiple submitters early-onset Lafora body disease ⚠
- p.Val197Leu Multiple submitters early-onset Lafora body disease ⚠
- p.Val68Ile Multiple submitters early-onset Lafora body disease ⚠
- p.285SG[2] Single submitter early-onset Lafora body disease
- p.483AGG[1] Single submitter early-onset Lafora body disease
- p.602QL[1] Single submitter early-onset Lafora body disease
- p.Ala172Thr Single submitter early-onset Lafora body disease ⚠
- p.Ala219Glu Single submitter ⚠
- p.Ala230Gly Single submitter early-onset Lafora body disease ⚠
- p.Ala248Thr Single submitter early-onset Lafora body disease ⚠
- p.Ala250Val Single submitter ⚠
- p.Ala280Thr Single submitter early-onset Lafora body disease ⚠
- p.Ala343Ser Single submitter ⚠
- p.Ala357Val Single submitter ⚠
- p.Ala381_Glu401del Single submitter early-onset Lafora body disease
- p.Ala392Gly Single submitter early-onset Lafora body disease ⚠
- p.Ala393Thr Single submitter early-onset Lafora body disease ⚠
- p.Ala395Val Single submitter early-onset Lafora body disease ⚠
- p.Ala404Thr Single submitter early-onset Lafora body disease ⚠
- p.Ala410Asp Single submitter early-onset Lafora body disease ⚠
- p.Ala427_Ala428del Single submitter early-onset Lafora body disease
- p.Ala428Thr Single submitter ⚠
- p.Ala428Val Single submitter early-onset Lafora body disease ⚠
- p.Ala438Val Single submitter ⚠
- p.Ala469Thr Single submitter early-onset Lafora body disease ⚠
- p.Ala480Val Single submitter ⚠
- p.Ala483Thr Single submitter early-onset Lafora body disease ⚠
- p.Ala529Ser Single submitter early-onset Lafora body disease ⚠
- p.Ala542Ser Single submitter early-onset Lafora body disease ⚠
- p.Ala546Pro Single submitter ⚠
- p.Ala552Gly Single submitter ⚠
- p.Ala552Ser Single submitter ⚠
- p.Ala552Val Single submitter early-onset Lafora body disease ⚠
- p.Ala553Thr Single submitter early-onset Lafora body disease ⚠
- p.Ala580Val Single submitter early-onset Lafora body disease ⚠
- p.Ala589Ser Single submitter ⚠
- p.Ala589Val Single submitter early-onset Lafora body disease ⚠
- p.Ala590_Ala598del Single submitter early-onset Lafora body disease
- p.Ala592_Ala598del Single submitter early-onset Lafora body disease
- p.Ala593Pro Single submitter early-onset Lafora body disease ⚠
- p.Ala594Thr Single submitter ⚠
- p.Ala595_Ala598dup Single submitter early-onset Lafora body disease
- p.Ala596_Ala598dup Single submitter early-onset Lafora body disease
- p.Ala597_Ala598dup Single submitter early-onset Lafora body disease
- p.Ala597Val Single submitter early-onset Lafora body disease ⚠
- p.Ala598dup Single submitter early-onset Lafora body disease
- p.Arg266Trp Single submitter early-onset Lafora body disease ⚠
- p.Arg272Gln Single submitter ⚠
- p.Arg383Cys Single submitter early-onset Lafora body disease ⚠
- p.Arg448Gly Single submitter ⚠
- p.Arg448Pro Single submitter early-onset Lafora body disease ⚠
- p.Arg456Lys Single submitter early-onset Lafora body disease ⚠
- p.Arg645Lys Single submitter ⚠
- p.Arg661Trp Single submitter ⚠
- p.Arg8Gln Single submitter ⚠
- p.Asn556His Single submitter early-onset Lafora body disease ⚠
- p.Asn625Ser Single submitter early-onset Lafora body disease ⚠
- p.Asp12Asn Single submitter early-onset Lafora body disease ⚠
- p.Asp12Tyr Single submitter ⚠
- p.Asp14Asn Single submitter early-onset Lafora body disease ⚠
- p.Asp201Asn Single submitter ⚠
- p.Asp211His Single submitter ⚠
- p.Asp64Glu Single submitter early-onset Lafora body disease ⚠
- p.Gln20Lys Single submitter early-onset Lafora body disease ⚠
- p.Gln212His Single submitter early-onset Lafora body disease ⚠
- p.Gln215His Single submitter ⚠
- p.Gln216Leu Single submitter early-onset Lafora body disease ⚠
- p.Gln217Glu Single submitter early-onset Lafora body disease ⚠
- p.Gln217Lys Single submitter early-onset Lafora body disease ⚠
- p.Gln296Ter Single submitter early-onset Lafora body disease
- p.Gln490Glu Single submitter early-onset Lafora body disease ⚠
- p.Gln550His Single submitter early-onset Lafora body disease ⚠
- p.Gln550Pro Single submitter early-onset Lafora body disease ⚠
- p.Gln624Glu Single submitter ⚠
- p.Gln624Pro Single submitter early-onset Lafora body disease ⚠
- p.Glu299Gln Single submitter early-onset Lafora body disease ⚠
- p.Glu338Ala Single submitter ⚠
- p.Glu346Gln Single submitter ⚠
- p.Glu380Lys Single submitter early-onset Lafora body disease ⚠
- p.Glu388Asp Single submitter early-onset Lafora body disease ⚠
- p.Glu400Gly Single submitter ⚠
- p.Glu434Lys Single submitter early-onset Lafora body disease ⚠
- p.Glu450Asp Single submitter early-onset Lafora body disease ⚠
- p.Glu651Met Single submitter early-onset Lafora body disease
- p.Gly198Asp Single submitter early-onset Lafora body disease ⚠
- p.Gly204Asp Single submitter early-onset Lafora body disease ⚠
- p.Gly207Asp Single submitter early-onset Lafora body disease ⚠
- p.Gly208Ser Single submitter early-onset Lafora body disease ⚠
- p.Gly209dup Single submitter early-onset Lafora body disease
- p.Gly231Ser Single submitter ⚠
- p.Gly251Ser Single submitter ⚠
- p.Gly288Cys Single submitter ⚠
- p.Gly288Ser Single submitter early-onset Lafora body disease ⚠
- p.Gly291_Gly292insSerGlyGly Single submitter early-onset Lafora body disease
- p.Gly292_Gly294del Single submitter early-onset Lafora body disease
- p.Gly292_Gly294dup Single submitter early-onset Lafora body disease
- p.Gly293_Gly294dup Single submitter early-onset Lafora body disease
- p.Gly294Cys Single submitter early-onset Lafora body disease ⚠
- p.Gly294dup Single submitter early-onset Lafora body disease
- p.Gly363Arg Single submitter early-onset Lafora body disease ⚠
- p.Gly379Ser Single submitter early-onset Lafora body disease ⚠
- p.Gly419Arg Single submitter ⚠
- p.Gly419Ser Single submitter ⚠
- p.Gly420_Gly421del Single submitter early-onset Lafora body disease
- p.Gly420_Gly421dup Single submitter early-onset Lafora body disease
- p.Gly421dup Single submitter early-onset Lafora body disease
- p.Gly432Ala Single submitter ⚠
- p.Gly442Arg Single submitter early-onset Lafora body disease ⚠
- p.Gly443Val Single submitter ⚠
- p.Gly467Asp Single submitter early-onset Lafora body disease ⚠
- p.Gly470Ser Single submitter early-onset Lafora body disease ⚠
- p.Gly476Asp Single submitter ⚠
- p.Gly476Ser Single submitter early-onset Lafora body disease ⚠
- p.Gly477Glu Single submitter ⚠
- p.Gly479Asp Single submitter early-onset Lafora body disease ⚠
- p.Gly481Arg Single submitter early-onset Lafora body disease ⚠
- p.Gly484Ser Single submitter early-onset Lafora body disease ⚠
- p.Gly485Cys Single submitter early-onset Lafora body disease ⚠
- p.Gly565Ser Single submitter early-onset Lafora body disease ⚠
- p.Gly568dup Single submitter early-onset Lafora body disease
- p.Gly599Arg Single submitter early-onset Lafora body disease ⚠
- p.Gly5Asp Single submitter early-onset Lafora body disease ⚠
- p.Gly9Asp Single submitter early-onset Lafora body disease ⚠
- p.His295Tyr Single submitter ⚠
- p.His527Tyr Single submitter early-onset Lafora body disease ⚠
- p.Ile40Val Single submitter early-onset Lafora body disease ⚠
- p.Ile55Lys Single submitter early-onset Lafora body disease ⚠
- p.Ile55Val Single submitter early-onset Lafora body disease ⚠
- p.Ile58Val Single submitter early-onset Lafora body disease ⚠
- p.Ile6Asn Single submitter early-onset Lafora body disease ⚠
- p.Leu138Phe Single submitter early-onset Lafora body disease ⚠
- p.Leu233Val Single submitter early-onset Lafora body disease ⚠
- p.Leu283Ile Single submitter early-onset Lafora body disease ⚠
- p.Leu348Met Single submitter early-onset Lafora body disease ⚠
- p.Leu370Pro Single submitter early-onset Lafora body disease ⚠
- p.Leu437Pro Single submitter ⚠
- p.Leu545Pro Single submitter early-onset Lafora body disease ⚠
- p.Leu549Arg Single submitter early-onset Lafora body disease ⚠
- p.Leu576Gln Single submitter early-onset Lafora body disease ⚠
- p.Leu603Met Single submitter early-onset Lafora body disease ⚠
- p.Lys229Asn Single submitter early-onset Lafora body disease ⚠
- p.Lys256Thr Single submitter ⚠
- p.Lys391Asn Single submitter early-onset Lafora body disease ⚠
- p.Lys391del Single submitter early-onset Lafora body disease
- p.Lys435Asn Single submitter early-onset Lafora body disease ⚠
- p.Lys548Arg Single submitter early-onset Lafora body disease ⚠
- p.Lys548Asn Single submitter ⚠
- p.Lys548Thr Single submitter
- p.Lys629Asn Single submitter ⚠
- p.Met654Val Single submitter ⚠
- p.Phe336Val Single submitter ⚠
- p.Phe362Ile Single submitter early-onset Lafora body disease ⚠
- p.Phe362Leu Single submitter early-onset Lafora body disease ⚠
- p.Phe41Val Single submitter early-onset Lafora body disease ⚠
- p.Pro220Ser Single submitter early-onset Lafora body disease ⚠
- p.Pro223Leu Single submitter ⚠
- p.Pro237Leu Single submitter early-onset Lafora body disease ⚠
- p.Pro239Thr Single submitter early-onset Lafora body disease ⚠
- p.Pro246Ser Single submitter early-onset Lafora body disease ⚠
- p.Pro246Thr Single submitter early-onset Lafora body disease ⚠
- p.Pro302Thr Single submitter early-onset Lafora body disease ⚠
- p.Pro342Leu Single submitter early-onset Lafora body disease ⚠
- p.Pro342Thr Single submitter early-onset Lafora body disease ⚠
- p.Pro352Gln Single submitter early-onset Lafora body disease ⚠
- p.Pro374Arg Single submitter ⚠
- p.Pro444Leu Single submitter ⚠
- p.Pro446Ser Single submitter early-onset Lafora body disease ⚠
- p.Pro525Ala Single submitter early-onset Lafora body disease ⚠
- p.Pro525Arg Single submitter ⚠
- p.Pro539Ser Single submitter early-onset Lafora body disease ⚠
- p.Pro544Leu Single submitter ⚠
- p.Pro600Ser Single submitter ⚠
- p.Pro606Ser Single submitter ⚠
- p.Pro613Arg Single submitter early-onset Lafora body disease ⚠
- p.Pro656Leu Single submitter early-onset Lafora body disease ⚠
- p.Ser243Asn Single submitter ⚠
- p.Ser243Ile Single submitter early-onset Lafora body disease ⚠
- p.Ser247Cys Single submitter early-onset Lafora body disease ⚠
- p.Ser253Gly Single submitter early-onset Lafora body disease ⚠
- p.Ser254Thr Single submitter early-onset Lafora body disease ⚠
- p.Ser282Thr Single submitter early-onset Lafora body disease ⚠
- p.Ser284_Ser287del Single submitter early-onset Lafora body disease
- p.Ser287Arg Single submitter early-onset Lafora body disease ⚠
- p.Ser289_Gly292dup Single submitter early-onset Lafora body disease
- p.Ser289Gly Single submitter early-onset Lafora body disease ⚠
- p.Ser301Gly Single submitter early-onset Lafora body disease ⚠
- p.Ser360Ile Single submitter early-onset Lafora body disease ⚠
- p.Ser447Asn Single submitter ⚠
- p.Ser453Gly Single submitter early-onset Lafora body disease ⚠
- p.Ser462Leu Single submitter ⚠
- p.Ser471Asn Single submitter early-onset Lafora body disease ⚠
- p.Ser473Asn Single submitter ⚠
- p.Ser564Thr Single submitter early-onset Lafora body disease ⚠
- p.Ser618Leu Single submitter ⚠
- p.Ser633Ala Single submitter early-onset Lafora body disease ⚠
- p.Ser674Pro Single submitter early-onset Lafora body disease ⚠
- p.Ser687Trp Single submitter early-onset Lafora body disease ⚠
- p.Thr23Lys Single submitter early-onset Lafora body disease ⚠
- p.Thr259Arg Single submitter ⚠
- p.Thr307Ala Single submitter early-onset Lafora body disease ⚠
- p.Thr424Pro Single submitter early-onset Lafora body disease ⚠
- p.Thr4Ala Single submitter early-onset Lafora body disease ⚠
- p.Thr579Ile Single submitter early-onset Lafora body disease ⚠
- p.Thr686Ser Single submitter early-onset Lafora body disease ⚠
- p.Trp582Arg Single submitter early-onset Lafora body disease ⚠
- p.Tyr355Cys Single submitter ⚠
- p.Tyr652Cys Single submitter early-onset Lafora body disease ⚠
- p.Tyr70Cys Single submitter early-onset Lafora body disease ⚠
- p.Val18Ile Single submitter ⚠
- p.Val29Ile Single submitter early-onset Lafora body disease ⚠
- p.Val389Ala Single submitter early-onset Lafora body disease ⚠
- p.Val409Ile Single submitter early-onset Lafora body disease ⚠
- p.Val547Gly Single submitter ⚠