CHKB — 272 ClinVar variants
All ClinVar germline CHKB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →
14 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 12 Conflicting · 22 Benign · 2 Benign/Likely benign · 98 Likely benign · 117 Uncertain significance
Full CHKB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 109
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CHKB p.Ala13Val
Conflicting
Single submitter
Inborn genetic diseases
-
CHKB p.Asn224His
Conflicting
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Gln328Arg
Conflicting
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Glu46Asp
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CHKB p.Gly12Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Gly386Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Leu371Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Lys27Arg
Uncertain significance
Multiple submitters
megaconial type congenital muscular dystrophy
-
CHKB p.Met177Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Ser150Arg
Uncertain significance
Multiple submitters
megaconial type congenital muscular dystrophy
-
CHKB p.Tyr72His
Uncertain significance
Multiple submitters
megaconial type congenital muscular dystrophy
-
CHKB p.Ala298Val
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Ala374Val
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Ala45Val
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Arg129Trp
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
- CHKB p.Arg226Ser Uncertain significance Single submitter
-
CHKB p.Arg35Pro
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Arg377Trp
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Arg70Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Asn224Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Asp287Ala
Uncertain significance
Single submitter
CHKB-Related Congenital Muscular Dystrophy (CHKB-CMD)
-
CHKB p.Glu141Asp
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Glu283Lys
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Glu324Gln
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Glu46Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Gly12Arg
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Gly137Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Gly142Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CHKB p.Gly274Asp Uncertain significance Single submitter
-
CHKB p.Gly59Ala
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Gly76Glu
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.His290Gln
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Ile243Val
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Leu262Arg
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Leu57Trp
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Lys20Gln
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Lys27Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Met171Thr
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Met261Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Met363Thr
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Phe139Leu
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Phe238Leu
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Phe351Ser
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Phe378Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Pro294Ala
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Pro304Thr
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Ser120Asn
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Ser39Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Ser40Leu
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Thr205Ala
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Thr6Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Val101Ala
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Val162Ala
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
Predictors split 56
The independent predictors disagree with each other — read with care.
-
CHKB p.Ala361Val
Uncertain significance
Multiple submitters
megaconial type congenital muscular dystrophy
-
CHKB p.Arg344Trp
Uncertain significance
Multiple submitters
megaconial type congenital muscular dystrophy
-
CHKB p.Arg62Cys
Uncertain significance
Multiple submitters
megaconial type congenital muscular dystrophy
-
CHKB p.Gln309Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Glu214Asp
Uncertain significance
Multiple submitters
megaconial type congenital muscular dystrophy
-
CHKB p.Glu336Lys
Uncertain significance
Multiple submitters
megaconial type congenital muscular dystrophy
-
CHKB p.Glu97Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Gly190Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.His315Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Leu334Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Lys321Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Pro66Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Pro92Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Ser217Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHKB p.Ser231Cys
Uncertain significance
Multiple submitters
megaconial type congenital muscular dystrophy
-
CHKB p.Val237Ile
Uncertain significance
Multiple submitters
megaconial type congenital muscular dystrophy
-
CHKB p.Ala165Pro
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Ala318Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Ala49Val
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Arg151Gln
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Arg194Gln
Conflicting
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Arg36Trp
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Arg54Gln
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Asp44Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Cys28Tyr
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Gln146Arg
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Gln331Glu
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Gln383Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Gln387Pro
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Glu100Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Glu230Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Glu291Lys
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
- CHKB p.Glu55Gly Uncertain significance Single submitter
-
CHKB p.His186Tyr
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Ile125Val
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Leu317Gln
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Leu338Val
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Leu82Val
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Leu91Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Met122Thr
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Pro161Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Pro233Ser
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Pro88Leu
Conflicting
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Pro88Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Pro92Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Pro92Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Ser362Phe
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Ser40Trp
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
- CHKB p.Thr169Met Uncertain significance Single submitter
-
CHKB p.Thr301Ile
Conflicting
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Thr6Ile
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Tyr272Cys
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
-
CHKB p.Tyr303Cys
Conflicting
Single submitter
Inborn genetic diseases
-
CHKB p.Val117Leu
Uncertain significance
Single submitter
Seizure
-
CHKB p.Val162Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHKB p.Val71Gly
Uncertain significance
Single submitter
megaconial type congenital muscular dystrophy
All CHKB variants
Pathogenic 14
- p.Arg63Ter Single submitter megaconial type congenital muscular dystrophy
- p.Asn241Ser Single submitter megaconial type congenital muscular dystrophy
- p.Gln198fs Single submitter megaconial type congenital muscular dystrophy
- p.Glu230fs Single submitter megaconial type congenital muscular dystrophy
- p.Glu335Ter Single submitter megaconial type congenital muscular dystrophy
- p.Leu228fs Single submitter Inborn genetic diseases
- p.Met179fs Single submitter megaconial type congenital muscular dystrophy
- p.Phe189fs Single submitter megaconial type congenital muscular dystrophy
- p.Thr155fs Single submitter megaconial type congenital muscular dystrophy
- p.Tyr270fs Single submitter megaconial type congenital muscular dystrophy
- p.Tyr270Ter Single submitter megaconial type congenital muscular dystrophy
- p.Tyr72Ter Single submitter megaconial type congenital muscular dystrophy
- c.677+1G>A No assertion criteria megaconial type congenital muscular dystrophy
- p.Gln308Ter No assertion criteria megaconial type congenital muscular dystrophy
Pathogenic/Likely pathogenic 1
- p.Gln51Ter Multiple submitters megaconial type congenital muscular dystrophy
Likely pathogenic 6
- c.678-2A>G Single submitter megaconial type congenital muscular dystrophy
- c.736+2T>C Single submitter
- p.Gln156fs Single submitter
- p.Trp356Ter Single submitter megaconial type congenital muscular dystrophy
- p.Tyr50Ter Single submitter megaconial type congenital muscular dystrophy
- p.Cys282fs No assertion criteria megaconial type congenital muscular dystrophy
Conflicting classifications of pathogenicity 12
- c.1031+12G>A Single submitter megaconial type congenital muscular dystrophy
- c.1114-6C>T Single submitter megaconial type congenital muscular dystrophy
- c.224+5G>C Single submitter megaconial type congenital muscular dystrophy
- c.447+12G>A Single submitter megaconial type congenital muscular dystrophy
- p.Ala13Val Single submitter Inborn genetic diseases ⚠
- p.Arg194Gln Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Asn224His Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Gln328Arg Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Glu46Asp Single submitter Inborn genetic diseases ⚠
- p.Pro88Leu Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Thr301Ile Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Tyr303Cys Single submitter Inborn genetic diseases ⚠
Benign 22
- c.1113+61T>C Multiple submitters
- c.1114-29C>T Multiple submitters
- c.448-87C>G Multiple submitters
- c.582-113G>C Multiple submitters
- c.582-182G>A Multiple submitters
- c.582-24T>G Multiple submitters
- c.582-53C>A Multiple submitters
- c.677+52G>T Multiple submitters
- c.678-66G>A Multiple submitters
- c.818+40T>C Multiple submitters
- c.819-53C>T Multiple submitters
- c.-19G>T Multiple submitters megaconial type congenital muscular dystrophy
- c.-369T>G Multiple submitters
- c.-389G>A Multiple submitters
- c.-553C>G Multiple submitters
- c.*134T>C Multiple submitters megaconial type congenital muscular dystrophy
- c.*216C>G Multiple submitters megaconial type congenital muscular dystrophy
- p.Tyr72= Multiple submitters megaconial type congenital muscular dystrophy
- c.1032-3dup Single submitter megaconial type congenital muscular dystrophy
- c.1114-18dup Single submitter megaconial type congenital muscular dystrophy
- c.-269C>T Single submitter
- c.-74_-55del20 Single submitter
Benign/Likely benign 2
- c.582-13_582-11del Multiple submitters megaconial type congenital muscular dystrophy
- p.Phe83= Multiple submitters megaconial type congenital muscular dystrophy
Likely benign 98
- c.1113+81G>A Multiple submitters
- c.334-188C>G Multiple submitters
- c.581+138C>G Multiple submitters
- c.581+8A>T Multiple submitters megaconial type congenital muscular dystrophy
- c.737-16C>T Multiple submitters megaconial type congenital muscular dystrophy
- p.Ala172= Multiple submitters megaconial type congenital muscular dystrophy
- p.Ile199= Multiple submitters megaconial type congenital muscular dystrophy
- p.Pro208= Multiple submitters
- p.Tyr216= Multiple submitters megaconial type congenital muscular dystrophy
- c.1031+11A>C Single submitter megaconial type congenital muscular dystrophy
- c.1031+15G>A Single submitter
- c.1031+19G>A Single submitter megaconial type congenital muscular dystrophy
- c.1031+20G>A Single submitter megaconial type congenital muscular dystrophy
- c.1032-11C>T Single submitter megaconial type congenital muscular dystrophy
- c.1032-15C>G Single submitter megaconial type congenital muscular dystrophy
- c.1032-20T>C Single submitter megaconial type congenital muscular dystrophy
- c.224+11A>G Single submitter megaconial type congenital muscular dystrophy
- c.333+17C>T Single submitter megaconial type congenital muscular dystrophy
- c.333+18G>A Single submitter megaconial type congenital muscular dystrophy
- c.333+9_333+10del Single submitter megaconial type congenital muscular dystrophy
- c.334-16G>A Single submitter megaconial type congenital muscular dystrophy
- c.334-18C>T Single submitter megaconial type congenital muscular dystrophy
- c.334-31_334-18del Single submitter megaconial type congenital muscular dystrophy
- c.447+20C>G Single submitter megaconial type congenital muscular dystrophy
- c.581+20_581+21del Single submitter megaconial type congenital muscular dystrophy
- c.581+20A>G Single submitter megaconial type congenital muscular dystrophy
- c.581+234G>A Single submitter
- c.581+7C>G Single submitter megaconial type congenital muscular dystrophy
- c.582-12T>C Single submitter megaconial type congenital muscular dystrophy
- c.582-13C>T Single submitter megaconial type congenital muscular dystrophy
- c.582-15T>C Single submitter megaconial type congenital muscular dystrophy
- c.582-49G>A Single submitter
- c.677+18A>G Single submitter megaconial type congenital muscular dystrophy
- c.678-16T>A Single submitter megaconial type congenital muscular dystrophy
- c.678-6C>T Single submitter megaconial type congenital muscular dystrophy
- c.736+11G>A Single submitter megaconial type congenital muscular dystrophy
- c.736+18A>T Single submitter megaconial type congenital muscular dystrophy
- c.737-14C>T Single submitter megaconial type congenital muscular dystrophy
- c.737-5C>T Single submitter megaconial type congenital muscular dystrophy
- c.737-6C>T Single submitter megaconial type congenital muscular dystrophy
- c.818+19C>T Single submitter megaconial type congenital muscular dystrophy
- c.818+7C>T Single submitter megaconial type congenital muscular dystrophy
- c.819-18T>G Single submitter megaconial type congenital muscular dystrophy
- c.819-9T>C Single submitter megaconial type congenital muscular dystrophy
- c.927+8G>A Single submitter megaconial type congenital muscular dystrophy
- c.927+9G>C Single submitter megaconial type congenital muscular dystrophy
- c.928-11A>G Single submitter megaconial type congenital muscular dystrophy
- c.928-16T>C Single submitter megaconial type congenital muscular dystrophy
- c.928-19T>A Single submitter megaconial type congenital muscular dystrophy
- c.928-20C>A Single submitter megaconial type congenital muscular dystrophy
- c.928-5C>T Single submitter megaconial type congenital muscular dystrophy
- c.928-7A>T Single submitter megaconial type congenital muscular dystrophy
- c.928-8G>A Single submitter megaconial type congenital muscular dystrophy
- p.Ala168= Single submitter megaconial type congenital muscular dystrophy
- p.Ala2= Single submitter megaconial type congenital muscular dystrophy
- p.Ala7= Single submitter megaconial type congenital muscular dystrophy
- p.Ala9= Single submitter megaconial type congenital muscular dystrophy
- p.Arg129= Single submitter megaconial type congenital muscular dystrophy
- p.Arg151= Single submitter megaconial type congenital muscular dystrophy
- p.Arg48= Single submitter megaconial type congenital muscular dystrophy
- p.Arg62= Single submitter megaconial type congenital muscular dystrophy
- p.Asp21= Single submitter megaconial type congenital muscular dystrophy
- p.Cys53= Single submitter megaconial type congenital muscular dystrophy
- p.Cys85= Single submitter megaconial type congenital muscular dystrophy
- p.Gln198= Single submitter megaconial type congenital muscular dystrophy
- p.Gln360= Single submitter megaconial type congenital muscular dystrophy
- p.Gln51= Single submitter megaconial type congenital muscular dystrophy
- p.Gln65= Single submitter megaconial type congenital muscular dystrophy
- p.Glu330= Single submitter megaconial type congenital muscular dystrophy
- p.Glu55= Single submitter megaconial type congenital muscular dystrophy
- p.Glu68= Single submitter megaconial type congenital muscular dystrophy
- p.Gly142= Single submitter megaconial type congenital muscular dystrophy
- p.Gly278= Single submitter megaconial type congenital muscular dystrophy
- p.Gly77= Single submitter megaconial type congenital muscular dystrophy
- p.Ile148= Single submitter megaconial type congenital muscular dystrophy
- p.Ile313= Single submitter megaconial type congenital muscular dystrophy
- p.Leu102= Single submitter megaconial type congenital muscular dystrophy
- p.Leu105= Single submitter megaconial type congenital muscular dystrophy
- p.Leu144= Single submitter megaconial type congenital muscular dystrophy
- p.Leu207= Single submitter megaconial type congenital muscular dystrophy
- p.Leu229= Single submitter megaconial type congenital muscular dystrophy
- p.Leu23= Single submitter megaconial type congenital muscular dystrophy
- p.Leu251= Single submitter megaconial type congenital muscular dystrophy
- p.Leu69= Single submitter
- p.Leu82= Single submitter megaconial type congenital muscular dystrophy
- p.Lys27= Single submitter megaconial type congenital muscular dystrophy
- p.Pro294= Single submitter megaconial type congenital muscular dystrophy
- p.Pro304= Single submitter megaconial type congenital muscular dystrophy
- p.Ser120= Single submitter megaconial type congenital muscular dystrophy
- p.Ser234= Single submitter megaconial type congenital muscular dystrophy
- p.Ser362= Single submitter megaconial type congenital muscular dystrophy
- p.Ser40= Single submitter megaconial type congenital muscular dystrophy
- p.Thr305= Single submitter megaconial type congenital muscular dystrophy
- p.Tyr267= Single submitter megaconial type congenital muscular dystrophy
- p.Tyr370= Single submitter megaconial type congenital muscular dystrophy
- p.Val14= Single submitter megaconial type congenital muscular dystrophy
- p.Val391= Single submitter megaconial type congenital muscular dystrophy
- p.Val74= Single submitter megaconial type congenital muscular dystrophy
Uncertain significance 117
- c.*208T>G Multiple submitters megaconial type congenital muscular dystrophy
- p.Ala361Val Multiple submitters megaconial type congenital muscular dystrophy ⚠
- p.Arg344Trp Multiple submitters megaconial type congenital muscular dystrophy ⚠
- p.Arg62Cys Multiple submitters megaconial type congenital muscular dystrophy ⚠
- p.Gln309Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu214Asp Multiple submitters megaconial type congenital muscular dystrophy ⚠
- p.Glu336Lys Multiple submitters megaconial type congenital muscular dystrophy ⚠
- p.Glu97Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly12Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly190Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly386Glu Multiple submitters Inborn genetic diseases ⚠
- p.His315Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu334Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu371Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys27Arg Multiple submitters megaconial type congenital muscular dystrophy ⚠
- p.Lys321Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met177Lys Multiple submitters Inborn genetic diseases ⚠
- p.Pro66Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro92Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser150Arg Multiple submitters megaconial type congenital muscular dystrophy ⚠
- p.Ser217Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser231Cys Multiple submitters megaconial type congenital muscular dystrophy ⚠
- p.Tyr72His Multiple submitters megaconial type congenital muscular dystrophy ⚠
- p.Val237Ile Multiple submitters megaconial type congenital muscular dystrophy ⚠
- c.1113+4A>T Single submitter megaconial type congenital muscular dystrophy
- c.1114-14G>A Single submitter megaconial type congenital muscular dystrophy
- c.1114-1G>A Single submitter megaconial type congenital muscular dystrophy
- c.1114-3T>G Single submitter megaconial type congenital muscular dystrophy
- c.447+4C>T Single submitter CHKB-related disorder
- c.677+3G>A Single submitter megaconial type congenital muscular dystrophy
- c.736+5_736+7del Single submitter megaconial type congenital muscular dystrophy
- c.819-16_819-7del Single submitter megaconial type congenital muscular dystrophy
- c.-94G>A Single submitter megaconial type congenital muscular dystrophy
- p.Ala165Pro Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Ala298Val Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Ala318Val Single submitter Inborn genetic diseases ⚠
- p.Ala374Val Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Ala45Val Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Ala49Val Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Arg129Trp Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Arg151Gln Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Arg226Ser Single submitter ⚠
- p.Arg35Pro Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Arg36Trp Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Arg377Trp Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Arg54Gln Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Arg70Thr Single submitter Inborn genetic diseases ⚠
- p.Arg99_Arg104del Single submitter megaconial type congenital muscular dystrophy
- p.Asn224Ser Single submitter Inborn genetic diseases ⚠
- p.Asp287Ala Single submitter CHKB-Related Congenital Muscular Dystrophy (CHKB-CMD) ⚠
- p.Asp44Ala Single submitter Inborn genetic diseases ⚠
- p.Cys28Tyr Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Gln146Arg Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Gln156= Single submitter megaconial type congenital muscular dystrophy
- p.Gln331Glu Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Gln383Glu Single submitter Inborn genetic diseases ⚠
- p.Gln387Pro Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Glu100Asp Single submitter Inborn genetic diseases ⚠
- p.Glu141Asp Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Glu230Lys Single submitter Inborn genetic diseases ⚠
- p.Glu283Lys Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Glu291Lys Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Glu324Gln Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Glu336del Single submitter megaconial type congenital muscular dystrophy
- p.Glu46Ala Single submitter Inborn genetic diseases ⚠
- p.Glu55Gly Single submitter ⚠
- p.Gly12Arg Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Gly137Arg Single submitter Inborn genetic diseases ⚠
- p.Gly142Ser Single submitter Inborn genetic diseases ⚠
- p.Gly176= Single submitter megaconial type congenital muscular dystrophy
- p.Gly274Asp Single submitter ⚠
- p.Gly59Ala Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Gly76Glu Single submitter megaconial type congenital muscular dystrophy ⚠
- p.His186Tyr Single submitter megaconial type congenital muscular dystrophy ⚠
- p.His290Gln Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Ile125Val Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Ile243Val Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Leu262Arg Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Leu317Gln Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Leu338Val Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Leu57Trp Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Leu82Val Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Leu91Gln Single submitter Inborn genetic diseases ⚠
- p.Lys20Gln Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Lys27Met Single submitter Inborn genetic diseases ⚠
- p.Met122Thr Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Met171Thr Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Met1Leu Single submitter megaconial type congenital muscular dystrophy
- p.Met261Ile Single submitter Inborn genetic diseases ⚠
- p.Met363Thr Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Phe139Leu Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Phe238Leu Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Phe351Ser Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Phe352_Trp353delinsLeu Single submitter megaconial type congenital muscular dystrophy
- p.Phe378Tyr Single submitter Inborn genetic diseases ⚠
- p.Pro161Leu Single submitter Inborn genetic diseases ⚠
- p.Pro233Ser Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Pro294Ala Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Pro304Thr Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Pro88Ser Single submitter Inborn genetic diseases ⚠
- p.Pro92Arg Single submitter Inborn genetic diseases ⚠
- p.Pro92Ser Single submitter Inborn genetic diseases ⚠
- p.Ser120Asn Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Ser362Phe Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Ser39Leu Single submitter Inborn genetic diseases ⚠
- p.Ser40Leu Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Ser40Trp Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Thr169Met Single submitter ⚠
- p.Thr205Ala Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Thr6Ala Single submitter Inborn genetic diseases ⚠
- p.Thr6Ile Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Tyr272Cys Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Val101Ala Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Val117Leu Single submitter Seizure ⚠
- p.Val162Ala Single submitter megaconial type congenital muscular dystrophy ⚠
- p.Val162Met Single submitter Inborn genetic diseases ⚠
- p.Val71Gly Single submitter megaconial type congenital muscular dystrophy ⚠