NM_032237.5(POMK):c.43dup (p.Arg15fs)Pathogenic
not provided|Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★★☆☆2025→ Residue 15
NM_032237.5(POMK):c.10C>T (p.Gln4Ter)Pathogenic
Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12|not provided
★★☆☆2025→ Residue 4
NM_032237.5(POMK):c.43C>T (p.Arg15Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★★☆☆2024→ Residue 15
NM_032237.5(POMK):c.386_387del (p.Leu129fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★★☆☆2024→ Residue 129
NM_032237.5(POMK):c.398_399del (p.His133fs)Pathogenic
POMK-related disorder|Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★★☆☆2024→ Residue 133
NM_032237.5(POMK):c.907C>T (p.Arg303Ter)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency|Limb-girdle muscular dystrophy due to POMK deficiency
★★☆☆2023→ Residue 303
NM_032237.5(POMK):c.61del (p.Val21fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 21
NM_032237.5(POMK):c.43del (p.Arg15fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 15
NM_032237.5(POMK):c.94_98del (p.Thr32fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 32
NM_032237.5(POMK):c.91_98dup (p.Leu34fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 34
NM_032237.5(POMK):c.917dup (p.Leu306fs)Pathogenic
not provided
★☆☆☆2025→ Residue 306
NM_032237.5(POMK):c.754dup (p.Asp252fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 252
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 83
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)Pathogenic
Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★☆☆☆2024→ Residue 153
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)Pathogenic
Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★☆☆☆2023→ Residue 215
NM_032237.5(POMK):c.282+1G>CPathogenic
Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★☆☆☆2023
NM_032237.5(POMK):c.847del (p.Trp283fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2023→ Residue 283
NM_032237.5(POMK):c.724dup (p.Val242fs)Pathogenic
Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★☆☆☆2023→ Residue 242
NM_032237.5(POMK):c.615dup (p.Asn206fs)Likely pathogenic
POMK-related disorder
★☆☆☆2022→ Residue 206
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2022→ Residue 94