CERS1 — 314 ClinVar variants
All ClinVar germline CERS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 4 Conflicting · 2 Benign · 1 Benign/Likely benign · 152 Likely benign · 152 Uncertain significance
Full CERS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CERS1 p.Arg255Cys
Conflicting
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Val191Ile
Conflicting
Single submitter
progressive myoclonic epilepsy type 8
Predictors lean, ClinVar uncertain 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CERS1 p.Ala165Thr
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala286Val
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala304Val
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg234Leu
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg273His
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.His233Arg
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ile148Thr
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Lys98Arg
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Phe282Tyr
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro260Leu
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro279Thr
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ser157Asn
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ser176Trp
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ser330Ile
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Thr274Met
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Val23Ala
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Val263Ile
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala117Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala237Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Ala239Val Uncertain significance Single submitter
-
CERS1 p.Ala30Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Ala34Val Uncertain significance Single submitter
- CERS1 p.Ala45Val Uncertain significance Single submitter
-
CERS1 p.Ala53Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala53Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala8Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg146Trp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg173His
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg197Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Arg197Trp Uncertain significance Single submitter
-
CERS1 p.Arg234Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg25His
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg321Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Arg74Ser Uncertain significance Single submitter
-
CERS1 p.Asp147Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Asp210Tyr Uncertain significance Single submitter
-
CERS1 p.Asp213Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Asp277Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Asp319Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Cys270Tyr Uncertain significance Single submitter
-
CERS1 p.Cys40Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Gln24His Uncertain significance Single submitter
-
CERS1 p.Glu101Lys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Glu337Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Glu51Ala Uncertain significance Single submitter
-
CERS1 p.His269Tyr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.His315Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ile223Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Leu107Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Leu187Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Leu204His Uncertain significance Single submitter
-
CERS1 p.Leu204Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Leu261Pro Uncertain significance Single submitter
-
CERS1 p.Leu340Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Leu344Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Met169Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Met16Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Phe207Leu Uncertain significance Single submitter
- CERS1 p.Phe225Val Uncertain significance Single submitter
- CERS1 p.Phe283Leu Uncertain significance Single submitter
-
CERS1 p.Phe284Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro279Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro279Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro58Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro6Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ser102Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ser133Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ser246Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Thr186Ile
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Thr219Ile Uncertain significance Single submitter
-
CERS1 p.Thr38Lys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Trp27Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Trp42Gly Uncertain significance Single submitter
- CERS1 p.Tyr118Asn Uncertain significance Single submitter
-
CERS1 p.Tyr159Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Val184Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Val191Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Val23Gly Uncertain significance Single submitter
Predictors split 59
The independent predictors disagree with each other — read with care.
-
CERS1 p.Ala117Ser
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala266Val
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala45Pro
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala86Val
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg228Cys
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg234Gln
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg273Cys
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Gly229Ser
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Gly28Ser
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.His236Gln
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Leu55Gln
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Leu60Val
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro13Ser
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro84Thr
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ser29Arg
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Val314Leu
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala103Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala103Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala237Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala32Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala50Pro
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ala50Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Ala56Val Uncertain significance Single submitter
-
CERS1 p.Ala72Thr
Conflicting
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Ala8Val Uncertain significance Single submitter
-
CERS1 p.Ala97Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg228His
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg321Trp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Arg47Pro Uncertain significance Single submitter
-
CERS1 p.Arg88Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Arg88Trp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Glu14Lys Uncertain significance Single submitter
-
CERS1 p.Glu59Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Gly141Asp Uncertain significance Single submitter
-
CERS1 p.Gly230Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Gly230Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Gly248Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ile203Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Leu242Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Leu61Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Leu61Pro
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Leu63Gln Uncertain significance Single submitter
-
CERS1 p.Lys262Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Met142Lys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Met169Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Phe196Ile
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Phe82Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro13Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro140Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro17Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Pro6Thr
Conflicting
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Ser212Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Thr171Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Thr171Ile Uncertain significance Single submitter
-
CERS1 p.Thr325Ile
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
-
CERS1 p.Thr71Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
- CERS1 p.Tyr125Cys Uncertain significance Single submitter
- CERS1 p.Tyr301Cys Uncertain significance Single submitter
-
CERS1 p.Val184Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 8
All CERS1 variants
Pathogenic 2
- p.Cys90fs Single submitter progressive myoclonic epilepsy type 8
- p.His183Gln No assertion criteria progressive myoclonic epilepsy type 8
Likely pathogenic 1
- c.*1120G>A Single submitter congenital heart defects, multiple types, 6
Conflicting classifications of pathogenicity 4
- p.Ala72Thr Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg255Cys Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Pro6Thr Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Val191Ile Single submitter progressive myoclonic epilepsy type 8 ⚠
Benign 2
- c.*151G>T Multiple submitters
- c.591-3del Single submitter progressive myoclonic epilepsy type 8
Benign/Likely benign 1
- p.Ala150= Multiple submitters progressive myoclonic epilepsy type 8
Likely benign 152
- p.Ala143= Multiple submitters progressive myoclonic epilepsy type 8
- p.Ala239= Multiple submitters progressive myoclonic epilepsy type 8
- p.Leu300= Multiple submitters progressive myoclonic epilepsy type 8
- p.Lys98= Multiple submitters progressive myoclonic epilepsy type 8
- p.Tyr194= Multiple submitters progressive myoclonic epilepsy type 8
- c.1010+10G>A Single submitter progressive myoclonic epilepsy type 8
- c.1010+18C>T Single submitter progressive myoclonic epilepsy type 8
- c.1010+19G>A Single submitter progressive myoclonic epilepsy type 8
- c.1010+7G>A Single submitter progressive myoclonic epilepsy type 8
- c.1011-16C>T Single submitter progressive myoclonic epilepsy type 8
- c.1011-4C>G Single submitter progressive myoclonic epilepsy type 8
- c.1011-4C>T Single submitter progressive myoclonic epilepsy type 8
- c.1011-5C>T Single submitter progressive myoclonic epilepsy type 8
- c.1011-8del Single submitter progressive myoclonic epilepsy type 8
- c.249+12C>T Single submitter progressive myoclonic epilepsy type 8
- c.249+14G>T Single submitter progressive myoclonic epilepsy type 8
- c.249+19C>T Single submitter progressive myoclonic epilepsy type 8
- c.249+7G>A Single submitter progressive myoclonic epilepsy type 8
- c.250-15T>C Single submitter progressive myoclonic epilepsy type 8
- c.250-20G>T Single submitter progressive myoclonic epilepsy type 8
- c.250-4A>G Single submitter progressive myoclonic epilepsy type 8
- c.409+7G>T Single submitter progressive myoclonic epilepsy type 8
- c.409+9C>T Single submitter progressive myoclonic epilepsy type 8
- c.410-10C>T Single submitter progressive myoclonic epilepsy type 8
- c.410-17G>T Single submitter progressive myoclonic epilepsy type 8
- c.410-20_410-19del Single submitter progressive myoclonic epilepsy type 8
- c.410-6C>T Single submitter progressive myoclonic epilepsy type 8
- c.590+11G>C Single submitter progressive myoclonic epilepsy type 8
- c.590+14C>G Single submitter progressive myoclonic epilepsy type 8
- c.590+14C>T Single submitter progressive myoclonic epilepsy type 8
- c.590+15G>A Single submitter progressive myoclonic epilepsy type 8
- c.590+9A>G Single submitter progressive myoclonic epilepsy type 8
- c.591-10G>T Single submitter progressive myoclonic epilepsy type 8
- c.591-15C>G Single submitter progressive myoclonic epilepsy type 8
- c.591-15C>T Single submitter progressive myoclonic epilepsy type 8
- c.591-19del Single submitter progressive myoclonic epilepsy type 8
- c.591-6C>T Single submitter progressive myoclonic epilepsy type 8
- c.591-8T>A Single submitter progressive myoclonic epilepsy type 8
- c.752+9T>C Single submitter progressive myoclonic epilepsy type 8
- c.753-10C>G Single submitter progressive myoclonic epilepsy type 8
- c.753-15C>A Single submitter progressive myoclonic epilepsy type 8
- c.753-17G>A Single submitter progressive myoclonic epilepsy type 8
- c.753-18T>G Single submitter progressive myoclonic epilepsy type 8
- c.753-4G>A Single submitter progressive myoclonic epilepsy type 8
- c.900+11C>T Single submitter progressive myoclonic epilepsy type 8
- c.900+13C>T Single submitter progressive myoclonic epilepsy type 8
- c.900+14G>A Single submitter progressive myoclonic epilepsy type 8
- c.900+20C>T Single submitter progressive myoclonic epilepsy type 8
- c.900+7C>T Single submitter progressive myoclonic epilepsy type 8
- c.900+8G>A Single submitter progressive myoclonic epilepsy type 8
- c.901-11C>A Single submitter progressive myoclonic epilepsy type 8
- c.901-17C>G Single submitter progressive myoclonic epilepsy type 8
- c.901-4G>A Single submitter progressive myoclonic epilepsy type 8
- c.901-6T>A Single submitter progressive myoclonic epilepsy type 8
- c.901-8T>C Single submitter progressive myoclonic epilepsy type 8
- p.Ala2= Single submitter progressive myoclonic epilepsy type 8
- p.Ala266= Single submitter progressive myoclonic epilepsy type 8
- p.Ala286= Single submitter progressive myoclonic epilepsy type 8
- p.Ala3= Single submitter progressive myoclonic epilepsy type 8
- p.Ala304= Single submitter progressive myoclonic epilepsy type 8
- p.Ala326= Single submitter progressive myoclonic epilepsy type 8
- p.Ala326= Single submitter progressive myoclonic epilepsy type 8
- p.Ala328= Single submitter progressive myoclonic epilepsy type 8
- p.Ala33= Single submitter progressive myoclonic epilepsy type 8
- p.Ala336= Single submitter progressive myoclonic epilepsy type 8
- p.Ala34= Single submitter progressive myoclonic epilepsy type 8
- p.Ala4= Single submitter progressive myoclonic epilepsy type 8
- p.Ala53= Single submitter progressive myoclonic epilepsy type 8
- p.Ala64= Single submitter progressive myoclonic epilepsy type 8
- p.Ala86= Single submitter progressive myoclonic epilepsy type 8
- p.Ala96= Single submitter progressive myoclonic epilepsy type 8
- p.Arg173= Single submitter progressive myoclonic epilepsy type 8
- p.Arg228= Single submitter progressive myoclonic epilepsy type 8
- p.Arg234= Single submitter progressive myoclonic epilepsy type 8
- p.Arg74= Single submitter progressive myoclonic epilepsy type 8
- p.Arg83Gln Single submitter progressive myoclonic epilepsy type 8
- p.Arg88= Single submitter progressive myoclonic epilepsy type 8
- p.Asp210= Single submitter progressive myoclonic epilepsy type 8
- p.Cys244= Single submitter progressive myoclonic epilepsy type 8
- p.Gly141= Single submitter progressive myoclonic epilepsy type 8
- p.Gly229= Single submitter progressive myoclonic epilepsy type 8
- p.Gly26= Single submitter progressive myoclonic epilepsy type 8
- p.Gly41= Single submitter progressive myoclonic epilepsy type 8
- p.Gly5= Single submitter progressive myoclonic epilepsy type 8
- p.Gly66= Single submitter progressive myoclonic epilepsy type 8
- p.His129= Single submitter progressive myoclonic epilepsy type 8
- p.His183= Single submitter progressive myoclonic epilepsy type 8
- p.His209= Single submitter progressive myoclonic epilepsy type 8
- p.His315= Single submitter progressive myoclonic epilepsy type 8
- p.His52= Single submitter progressive myoclonic epilepsy type 8
- p.Ile190= Single submitter progressive myoclonic epilepsy type 8
- p.Ile203= Single submitter progressive myoclonic epilepsy type 8
- p.Ile278= Single submitter progressive myoclonic epilepsy type 8
- p.Ile302= Single submitter progressive myoclonic epilepsy type 8
- p.Leu180= Single submitter progressive myoclonic epilepsy type 8
- p.Leu189= Single submitter progressive myoclonic epilepsy type 8
- p.Leu204= Single submitter progressive myoclonic epilepsy type 8
- p.Leu22= Single submitter progressive myoclonic epilepsy type 8
- p.Leu221= Single submitter progressive myoclonic epilepsy type 8
- p.Leu256= Single submitter progressive myoclonic epilepsy type 8
- p.Leu264= Single submitter progressive myoclonic epilepsy type 8
- p.Leu272= Single submitter progressive myoclonic epilepsy type 8
- p.Leu289= Single submitter progressive myoclonic epilepsy type 8
- p.Leu291= Single submitter progressive myoclonic epilepsy type 8
- p.Leu317= Single submitter progressive myoclonic epilepsy type 8
- p.Leu320= Single submitter progressive myoclonic epilepsy type 8
- p.Leu344= Single submitter progressive myoclonic epilepsy type 8
- p.Leu60= Single submitter progressive myoclonic epilepsy type 8
- p.Leu61= Single submitter progressive myoclonic epilepsy type 8
- p.Leu65= Single submitter progressive myoclonic epilepsy type 8
- p.Leu91= Single submitter progressive myoclonic epilepsy type 8
- p.Lys174= Single submitter progressive myoclonic epilepsy type 8
- p.Lys308= Single submitter progressive myoclonic epilepsy type 8
- p.Lys332= Single submitter progressive myoclonic epilepsy type 8
- p.Phe280= Single submitter progressive myoclonic epilepsy type 8
- p.Phe282= Single submitter progressive myoclonic epilepsy type 8
- p.Pro10= Single submitter progressive myoclonic epilepsy type 8
- p.Pro13= Single submitter progressive myoclonic epilepsy type 8
- p.Pro131= Single submitter progressive myoclonic epilepsy type 8
- p.Pro140= Single submitter progressive myoclonic epilepsy type 8
- p.Pro140= Single submitter progressive myoclonic epilepsy type 8
- p.Pro15= Single submitter progressive myoclonic epilepsy type 8
- p.Pro17= Single submitter progressive myoclonic epilepsy type 8
- p.Pro260= Single submitter progressive myoclonic epilepsy type 8
- p.Pro333= Single submitter progressive myoclonic epilepsy type 8
- p.Pro57= Single submitter progressive myoclonic epilepsy type 8
- p.Pro58= Single submitter progressive myoclonic epilepsy type 8
- p.Pro6= Single submitter progressive myoclonic epilepsy type 8
- p.Pro84= Single submitter progressive myoclonic epilepsy type 8
- p.Ser102= Single submitter progressive myoclonic epilepsy type 8
- p.Ser176= Single submitter progressive myoclonic epilepsy type 8
- p.Ser193= Single submitter progressive myoclonic epilepsy type 8
- p.Ser250= Single submitter progressive myoclonic epilepsy type 8
- p.Ser330= Single submitter progressive myoclonic epilepsy type 8
- p.Thr123= Single submitter progressive myoclonic epilepsy type 8
- p.Thr139= Single submitter progressive myoclonic epilepsy type 8
- p.Thr166= Single submitter progressive myoclonic epilepsy type 8
- p.Thr186= Single submitter progressive myoclonic epilepsy type 8
- p.Thr274Ala Single submitter
- p.Thr292= Single submitter progressive myoclonic epilepsy type 8
- p.Thr78= Single submitter progressive myoclonic epilepsy type 8
- p.Tyr125= Single submitter progressive myoclonic epilepsy type 8
- p.Tyr159= Single submitter progressive myoclonic epilepsy type 8
- p.Tyr198= Single submitter progressive myoclonic epilepsy type 8
- p.Val134= Single submitter progressive myoclonic epilepsy type 8
- p.Val144= Single submitter progressive myoclonic epilepsy type 8
- p.Val177= Single submitter progressive myoclonic epilepsy type 8
- p.Val178= Single submitter progressive myoclonic epilepsy type 8
- p.Val214= Single submitter progressive myoclonic epilepsy type 8
- p.Val314= Single submitter progressive myoclonic epilepsy type 8
- p.Val345= Single submitter progressive myoclonic epilepsy type 8
- p.Gly243= No assertion criteria CERS1-related disorder
Uncertain significance 152
- p.Ala117Ser Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ala165Thr Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ala266Val Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ala286Val Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ala304Val Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ala45Pro Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ala86Val Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Arg228Cys Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Arg234Gln Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Arg234Leu Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Arg273Cys Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Arg273His Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Gly229Ser Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Gly28Ser Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.His233Arg Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.His236Gln Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ile148Thr Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Leu55Gln Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Leu60Val Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Lys98Arg Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Phe282Tyr Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Pro13Ser Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Pro260Leu Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Pro279Thr Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Pro84Thr Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ser157Asn Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ser176Trp Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ser29Arg Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Ser330Ile Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Thr274Met Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Val23Ala Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Val263Ile Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- p.Val314Leu Multiple submitters progressive myoclonic epilepsy type 8 ⚠
- c.1011-2A>G Single submitter progressive myoclonic epilepsy type 8
- c.590+3A>T Single submitter progressive myoclonic epilepsy type 8
- c.591-3C>T Single submitter progressive myoclonic epilepsy type 8
- c.753-3C>A Single submitter progressive myoclonic epilepsy type 8
- c.901-3C>A Single submitter progressive myoclonic epilepsy type 8
- p.3AAGP[1] Single submitter progressive myoclonic epilepsy type 8
- p.Ala103_Trp104insTer Single submitter progressive myoclonic epilepsy type 8
- p.Ala103Ser Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala103Thr Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala117Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala237Ser Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala237Thr Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala239Leu Single submitter progressive myoclonic epilepsy type 8
- p.Ala239Val Single submitter ⚠
- p.Ala30Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala32Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala34_Arg35insSer Single submitter progressive myoclonic epilepsy type 8
- p.Ala34Val Single submitter ⚠
- p.Ala4_Gly5insAla Single submitter progressive myoclonic epilepsy type 8
- p.Ala45Val Single submitter ⚠
- p.Ala50Pro Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala50Ser Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala53Gly Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala53Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala56Val Single submitter ⚠
- p.Ala8Gly Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ala8Val Single submitter ⚠
- p.Ala97Thr Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg146Trp Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg173His Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg197Gln Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg197Trp Single submitter ⚠
- p.Arg228His Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg234Gly Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg25His Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg321Gln Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg321Trp Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg47Pro Single submitter ⚠
- p.Arg74Ser Single submitter ⚠
- p.Arg88Gln Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Arg88Trp Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Asp147Gly Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Asp210Tyr Single submitter ⚠
- p.Asp213Asn Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Asp277Ala Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Asp319Asn Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Cys270Tyr Single submitter ⚠
- p.Cys40Gly Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Gln24His Single submitter ⚠
- p.Gln24Pro Single submitter progressive myoclonic epilepsy type 8
- p.Gln92Ter Single submitter progressive myoclonic epilepsy type 8
- p.Glu101Lys Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Glu14Lys Single submitter ⚠
- p.Glu337Gln Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Glu51Ala Single submitter ⚠
- p.Glu59Asp Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Gly141Asp Single submitter ⚠
- p.Gly230Ala Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Gly230Ser Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Gly248Ser Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.His269Tyr Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.His315Gln Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ile203Thr Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ile223Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Leu107Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Leu187Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Leu204His Single submitter ⚠
- p.Leu204Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Leu242Ser Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Leu261Pro Single submitter ⚠
- p.Leu340Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Leu344Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Leu61Met Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Leu61Pro Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Leu63Gln Single submitter ⚠
- p.Leu73_Arg74insGlyTrpThrAlaLeu Single submitter progressive myoclonic epilepsy type 8
- p.Lys262Arg Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Met142Lys Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Met169Thr Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Met169Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Met16Val Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Phe196Ile Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Phe207Leu Single submitter ⚠
- p.Phe225Val Single submitter ⚠
- p.Phe283Leu Single submitter ⚠
- p.Phe284Ser Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Phe82Leu Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Pro10_Thr11insAlaAlaGlyPro Single submitter progressive myoclonic epilepsy type 8
- p.Pro13Thr Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Pro140Leu Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Pro17Leu Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Pro279Ala Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Pro279Arg Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Pro58Leu Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Pro6Arg Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ser102Asn Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ser133Phe Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ser212Gly Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Ser246Arg Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Thr11_Pro13del Single submitter progressive myoclonic epilepsy type 8
- p.Thr171Ala Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Thr171Ile Single submitter ⚠
- p.Thr186Ile Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Thr219Ile Single submitter ⚠
- p.Thr325Ile Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Thr38Lys Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Thr71Ala Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Trp27Cys Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Trp42Gly Single submitter ⚠
- p.Tyr118Asn Single submitter ⚠
- p.Tyr125Cys Single submitter ⚠
- p.Tyr136= Single submitter progressive myoclonic epilepsy type 8
- p.Tyr159Cys Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Tyr301Cys Single submitter ⚠
- p.Tyr301Ter Single submitter progressive myoclonic epilepsy type 8
- p.Val184Leu Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Val184Met Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Val191Ala Single submitter progressive myoclonic epilepsy type 8 ⚠
- p.Val23Gly Single submitter ⚠