NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)Pathogenic
Spondylocostal dysostosis 2, autosomal recessive|not provided
★★☆☆2026→ Residue 103
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)Pathogenic
Spondylocostal dysostosis 2, autosomal recessive|not provided
★★☆☆2025→ Residue 88
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)Pathogenic
Spondylocostal dysostosis 2, autosomal recessive|not provided
★★☆☆2025→ Residue 81
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter)Pathogenic
Spondylocostal dysostosis 2, autosomal recessive|not provided
★★☆☆2025→ Residue 77
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)Pathogenic
Spondylocostal dysostosis 2, autosomal recessive|not provided
★★☆☆2025→ Residue 4
NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)Pathogenic
Spondylocostal dysostosis 2, autosomal recessive|not provided
★★☆☆2025→ Residue 39
NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)Pathogenic
Spondylocostal dysostosis 2, autosomal recessive|not provided
★★☆☆2025→ Residue 117
NM_001039958.2(MESP2):c.288del (p.Leu97fs)Pathogenic
not provided|Spondylocostal dysostosis 2, autosomal recessive
★★☆☆2024→ Residue 97
NM_001039958.2(MESP2):c.125C>A (p.Ser42Ter)Pathogenic
not provided|Spondylocostal dysostosis 2, autosomal recessive
★★☆☆2024→ Residue 42
NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)Pathogenic
Spondylocostal dysostosis 2, autosomal recessive
★★☆☆2024→ Residue 28
NM_001039958.2(MESP2):c.562C>T (p.Gln188Ter)Likely pathogenic
Spondylocostal dysostosis 2, autosomal recessive
★☆☆☆2026→ Residue 188
NM_001039958.2(MESP2):c.533del (p.Glu178fs)Likely pathogenic
Spondylocostal dysostosis 2, autosomal recessive
★☆☆☆2026→ Residue 178
NM_001039958.2(MESP2):c.162_175dup (p.Cys59fs)Pathogenic
not provided
★☆☆☆2026→ Residue 59
NM_001039958.2(MESP2):c.557dup (p.Gln188fs)Likely pathogenic
Spondylocostal dysostosis 2, autosomal recessive
★☆☆☆2025→ Residue 188
NM_001039958.2(MESP2):c.560_561insCAGGGGCAAGG (p.Gln188fs)Likely pathogenic
Spondylocostal dysostosis 2, autosomal recessive
★☆☆☆2025→ Residue 188
NM_001039958.2(MESP2):c.255_262dup (p.Glu88fs)Likely pathogenic
Spondylocostal dysostosis 2, autosomal recessive
★☆☆☆2025→ Residue 88
NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter)Likely pathogenic
Spondylocostal dysostosis 2, autosomal recessive
★☆☆☆2025→ Residue 196
NM_001039958.2(MESP2):c.22C>T (p.Gln8Ter)Likely pathogenic
Spondylocostal dysostosis 2, autosomal recessive
★☆☆☆2025→ Residue 8
NM_001039958.2(MESP2):c.184C>T (p.Arg62Ter)Likely pathogenic
Spondylocostal dysostosis 2, autosomal recessive
★☆☆☆2025→ Residue 62
NM_001039958.2(MESP2):c.599del (p.Gln200fs)Likely pathogenic
Spondylocostal dysostosis 2, autosomal recessive
★☆☆☆2025→ Residue 200