POMK — 276 ClinVar variants
All ClinVar germline POMK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →
19 Pathogenic · 5 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 14 Conflicting · 7 Benign · 6 Benign/Likely benign · 79 Likely benign · 145 Uncertain significance
Full POMK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 146
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
POMK p.Arg15Gln
Conflicting
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Arg86Cys
Conflicting
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Asn7Ser
Conflicting
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Gln258Arg
Conflicting
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Ile189Val
Conflicting
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Met342Val
Conflicting
Single submitter
Inborn genetic diseases
-
POMK p.Val197Leu
Conflicting
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Val302Asp
Conflicting
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
Predictors lean, ClinVar uncertain 114
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
POMK p.Ala13Thr
Uncertain significance
Multiple submitters
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Ala28Ser
Uncertain significance
Multiple submitters
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Arg15Leu
Uncertain significance
Multiple submitters
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Arg303Gln
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Arg86His
Uncertain significance
Multiple submitters
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Asp207Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.Cys313Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.Glu16Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.Glu278Gly
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Gly239Arg
Uncertain significance
Multiple submitters
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Ile43Val
Uncertain significance
Multiple submitters
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Lys85Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.Met27Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.Pro153Ser
Uncertain significance
Multiple submitters
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Pro18Leu
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Pro209Leu
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Ser112Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.Ser158Asn
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Thr136Lys
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Thr136Met
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Thr323Ile
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Thr79Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.Tyr140Cys
Uncertain significance
Multiple submitters
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Tyr276Cys
Uncertain significance
Multiple submitters
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Val17Leu
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Val186Phe
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Val234Ala
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- POMK p.Ala13Val Uncertain significance Single submitter
-
POMK p.Ala324Ser
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Ala44Thr
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Ala91Thr
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Arg10Gly
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Arg15Gly
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Arg46Gln
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Asp118Tyr
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- POMK p.Asp144Glu Uncertain significance Single submitter
-
POMK p.Asp184Gly
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Asp207Asn
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Asp270Asn
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- POMK p.Asp271Gly Uncertain significance Single submitter
-
POMK p.Asp271Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Asp277Val
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Asp287Asn
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Asp287His
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Asp39Asn
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Cys141Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Cys37Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Cys55Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Cys74Trp
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Gln109Arg
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Gln214Leu
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Glu161Lys
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Glu16Gly
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Glu348Asp
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Glu75Lys
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Glu89Lys
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Gly155Ala
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Gly198Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- POMK p.Gly245Ser Uncertain significance Single submitter
-
POMK p.Gly88Arg
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Gly90Arg
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.His152Asn
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.His193Asp
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- POMK p.His194Asn Uncertain significance Single submitter
- POMK p.His194Gln Uncertain significance Single submitter
-
POMK p.His246Arg
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.His250Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.His295Tyr
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- POMK p.His59Arg Uncertain significance Single submitter
- POMK p.Ile223Val Uncertain significance Single submitter
-
POMK p.Ile26Leu
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- POMK p.Ile288Phe Uncertain significance Single submitter
-
POMK p.Leu107Phe
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Leu120Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Leu129Phe
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- POMK p.Leu241Val Uncertain significance Single submitter
-
POMK p.Leu249Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Leu72Pro
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Lys104Arg
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Lys116Arg
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Lys168Gln
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Lys168Glu
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Lys66Arg
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Met147Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Met183Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Met240Thr
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Met273Leu
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Met301Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Phe221Leu
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Phe41Val
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Pro19Ser
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Pro267Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Pro322Leu
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Pro45Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Pro52Ser
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Pro70Ser
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Ser128Phe
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Ser219Arg
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Ser290Thr
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- POMK p.Ser48Cys Uncertain significance Single submitter
-
POMK p.Ser98Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Thr111Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Thr146Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Thr53Ala
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Thr79Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Trp283Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Tyr169His
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Tyr57Cys
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Val134Asp
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Val135Asp
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Val266Met
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Val327Leu
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
- POMK p.Val50Leu Uncertain significance Single submitter
-
POMK p.Val87Leu
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
Predictors split 24
The independent predictors disagree with each other — read with care.
-
POMK p.Arg200Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.Arg200Leu
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Arg200Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.Arg61Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.His152Gln
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.His194Tyr
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Phe304Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POMK p.Thr174Met
Uncertain significance
Multiple submitters
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Ala182Val
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Arg247Gly
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Arg61Gly
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Asn235Ser
Conflicting
Single submitter
Inborn genetic diseases
- POMK p.Glu248Gln Uncertain significance Single submitter
-
POMK p.Leu212Val
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Leu23Pro
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Leu249Met
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Leu292Phe
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Lys104Thr
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Met125Leu
Conflicting
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
-
POMK p.Phe96Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Thr174Ala
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Tyr185His
Uncertain significance
Single submitter
limb-girdle muscular dystrophy due to POMK deficiency
-
POMK p.Tyr262Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
POMK p.Val254Met
Conflicting
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
All POMK variants
Pathogenic 19
- p.Arg15Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- c.282+1G>C Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Arg15fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Arg94Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Asp252fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Asp51fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Gln83Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Glu80fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.His152fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Leu306fs Single submitter
- p.Leu34fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Pro153_Leu154insTer Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Thr32fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Trp283fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Tyr215Ter Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Val21fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Val242fs Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Leu137Arg No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Leu97fs No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Pathogenic/Likely pathogenic 5
- p.Arg303Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Gln109Ter Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Gln4Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.His133fs Multiple submitters POMK-related disorder
- p.Leu129fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Likely pathogenic 1
- p.Asn206fs Single submitter POMK-related disorder
Conflicting classifications of pathogenicity 14
- p.Arg15Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Arg46Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Arg86Cys Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Asn235Ser Single submitter Inborn genetic diseases ⚠
- p.Asn7Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Gln258Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Ile189Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Met125Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Met1Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Met342Val Single submitter Inborn genetic diseases ⚠
- p.Phe268fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Val197Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Val254Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Val302Asp Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
Benign 7
- c.282+34C>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- c.282+83G>A Multiple submitters
- c.*260G>A Multiple submitters
- p.Asp265= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- c.-209-1_-207del Single submitter
- c.*193del Single submitter
- c.*237dup Single submitter
Benign/Likely benign 6
- p.Asn206= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Asp336Asn Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Leu181= Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Met301Thr Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Ser108= Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Ser238= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Likely benign 79
- c.-21-69A>G Multiple submitters
- p.Ala341= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Asp229= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Asp326= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Cys203= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Cys244= Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Gly294= Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Ile188= Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Ile296Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Ile43= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Leu338Arg Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Leu38= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Phe253= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Pro18= Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Pro274= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Ser48Pro Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Ser73= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Ser8= Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Val242= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- c.282+10G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- c.282+12T>A Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- c.282+20C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- c.282+7C>A Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- c.282+8C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- c.282+9G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- c.283-19C>G Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- c.283-6T>C Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- c.283-9_283-8del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- c.-21-298T>G Single submitter
- c.-222G>T Single submitter
- p.Ala13= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Ala230= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Arg15= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Arg61= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Asp227= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Asp287= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Cys37= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Cys74= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Gln214= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Gln258= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Glu150= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Gly11= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Gly22= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Gly58= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.His121= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.His269= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Leu110= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Leu12= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Leu120= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Leu192= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Leu208= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Leu249= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Leu259= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Lys104= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Lys168= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Lys333= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Lys93= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Phe268= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Pro196= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Pro209= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Pro318= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Pro56= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Ser275= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Thr111= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Thr136= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Thr163= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Thr174= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Thr211= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Thr32= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Thr337= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Tyr140= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Tyr185= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Val105= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Val17= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Val197= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Val266= Single submitter
- p.Val302= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Val50= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Val92= Single submitter limb-girdle muscular dystrophy due to POMK deficiency
Uncertain significance 145
- p.Ala13Thr Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Ala230Thr Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Ala28Ser Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Arg15Leu Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Arg200Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg200Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Arg200Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg303Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Arg61Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg86His Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Asp207Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys313Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Glu16Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu278Gly Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Gly239Arg Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.His152Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.His194Tyr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.His305Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Ile43Val Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Lys85Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met1Ile Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency
- p.Met27Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe304Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro153Ser Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Pro18Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Pro209Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Ser112Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser158Asn Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Thr136Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Thr136Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Thr174Met Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Thr323Ile Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Thr79Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr140Cys Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Tyr276Cys Multiple submitters limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Val17Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Val186Phe Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Val234Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala182Val Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Ala324Ser Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Ala44Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Ala91Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Arg10Gly Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Arg15Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Arg247Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Arg339Ter Single submitter
- p.Arg46Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Arg61Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Asp118Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Asp144Glu Single submitter ⚠
- p.Asp184Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Asp207Asn Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Asp270Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Asp270His Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Asp271Gly Single submitter ⚠
- p.Asp271Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp277Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Asp287Asn Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Asp287His Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Asp39Asn Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Cys141Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Cys37Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Cys55Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys74Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Gln109Arg Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Gln214Leu Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Glu102Val Single submitter Inborn genetic diseases
- p.Glu161Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Glu16Gly Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Glu248Gln Single submitter ⚠
- p.Glu348Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Glu348fs Single submitter
- p.Glu75Lys Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Glu89Lys Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Gly155Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Gly198Asp Single submitter Inborn genetic diseases ⚠
- p.Gly245Ser Single submitter ⚠
- p.Gly88Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Gly90Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.His152Asn Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.His193Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.His194Asn Single submitter ⚠
- p.His194Gln Single submitter ⚠
- p.His246Arg Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.His250Arg Single submitter Inborn genetic diseases ⚠
- p.His295Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.His59Arg Single submitter ⚠
- p.Ile223Val Single submitter ⚠
- p.Ile26Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Ile288Phe Single submitter ⚠
- p.Ile309Thr Single submitter limb-girdle muscular dystrophy due to POMK deficiency
- p.Leu107Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Leu120Val Single submitter Inborn genetic diseases ⚠
- p.Leu129Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Leu212Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Leu23Pro Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Leu241Val Single submitter ⚠
- p.Leu249Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Leu249Pro Single submitter Inborn genetic diseases ⚠
- p.Leu25Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- p.Leu292Phe Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Leu33Pro Single submitter Inborn genetic diseases
- p.Leu72Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Lys104Arg Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Lys104Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Lys116Arg Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Lys168Gln Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Lys168Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Lys66Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Met147Val Single submitter Inborn genetic diseases ⚠
- p.Met183Val Single submitter Inborn genetic diseases ⚠
- p.Met240Thr Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Met273Leu Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Met301Val Single submitter Inborn genetic diseases ⚠
- p.Phe221Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Phe41Val Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Phe96Leu Single submitter Inborn genetic diseases ⚠
- p.Pro19Ser Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Pro267Ser Single submitter Inborn genetic diseases ⚠
- p.Pro322Leu Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Pro45Leu Single submitter Inborn genetic diseases ⚠
- p.Pro52Ser Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Pro70Ser Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Ser128Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Ser219Arg Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Ser290Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Ser48Cys Single submitter ⚠
- p.Ser98Phe Single submitter Inborn genetic diseases ⚠
- p.Thr111Ile Single submitter Inborn genetic diseases ⚠
- p.Thr146Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Thr174Ala Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Thr53Ala Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Thr79Ala Single submitter Inborn genetic diseases ⚠
- p.Trp283Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr169His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Tyr185His Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Tyr262Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr57Cys Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Val134Asp Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Val135Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Val266Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ⚠
- p.Val327Leu Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠
- p.Val50Leu Single submitter ⚠
- p.Val87Leu Single submitter limb-girdle muscular dystrophy due to POMK deficiency ⚠