NM_004318.4(ASPH):c.2181_2183dup (p.Trp728Ter)Pathogenic
not provided|Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★★☆☆2024→ Residue 728
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter)Pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★★☆☆2021→ Residue 565
NM_004318.4(ASPH):c.1150-1G>ALikely pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★☆☆☆2025
NM_004318.4(ASPH):c.2203C>T (p.Arg735Trp)Likely pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome|Thoracic aortic aneurysm or dissection
★☆☆☆2025→ Residue 735
NM_004318.4(ASPH):c.1724G>A (p.Trp575Ter)Pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★☆☆☆2025→ Residue 575
NM_004318.4(ASPH):c.1771G>T (p.Glu591Ter)Likely pathogenic
not provided
★☆☆☆2025→ Residue 591
NM_004318.4(ASPH):c.1747del (p.Tyr583fs)Likely pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★☆☆☆2024→ Residue 583
NM_004318.4(ASPH):c.2160del (p.Asp720fs)Likely pathogenic
not provided
★☆☆☆2024→ Residue 720
NM_004318.4(ASPH):c.1680G>A (p.Trp560Ter)Likely pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★☆☆☆2024→ Residue 560
NM_004318.4(ASPH):c.1482T>A (p.Tyr494Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 494
NM_004318.4(ASPH):c.1149+1G>ALikely pathogenic
not provided
★☆☆☆2023
NM_004318.4(ASPH):c.1552G>T (p.Gly518Ter)Pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★☆☆☆2023→ Residue 518
NM_004318.4(ASPH):c.1171_1175del (p.Lys391fs)Likely pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★☆☆☆2023→ Residue 391
NM_004318.4(ASPH):c.1394del (p.Leu465fs)Pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★☆☆☆2023→ Residue 465
NM_004318.4(ASPH):c.1892G>A (p.Trp631Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 631
NM_004318.4(ASPH):c.1916dup (p.Asn639fs)Pathogenic
not provided
★☆☆☆2021→ Residue 639
NM_004318.4(ASPH):c.1910del (p.Asn637fs)Pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★☆☆☆→ Residue 637
NM_004318.4(ASPH):c.1626G>A (p.Glu542=)Likely pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★☆☆☆→ Residue 542
NM_004318.4(ASPH):c.1782G>A (p.Trp594Ter)Pathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
★☆☆☆→ Residue 594
NM_004318.4(ASPH):c.2127-2delPathogenic
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
☆☆☆☆2024