NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome|not provided
β
β
ββ2026β Residue 64
NM_198428.3(BBS9):c.1329+1738C>TLikely pathogenic
BBS9-related disorder|Bardet-Biedl syndrome
β
β
ββ2026
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)Pathogenic
Bardet-Biedl syndrome|Retinal vascular dystrophy|BBS9-related disorder|Bardet-Biedl syndrome 9
β
β
ββ2026β Residue 75
NM_198428.3(BBS9):c.1789+1G>APathogenic
Bardet-Biedl syndrome 9|not provided|BBS9-related disorder|Bardet-Biedl syndrome|Pancreatic adenocarcinoma
β
β
ββ2025
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)Pathogenic
Bardet-Biedl syndrome 9|not provided|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome|BBS9-related disorder|Retinal dystrophy
β
β
ββ2025β Residue 626
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)Pathogenic
not provided|Bardet-Biedl syndrome 9|Bardet-Biedl syndrome|BBS9-related disorder|Retinal dystrophy
β
β
ββ2025β Residue 374
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome|Nephronophthisis 4
β
β
ββ2025β Residue 598
NM_198428.3(BBS9):c.214del (p.Val72fs)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome|BBS9-related disorder
β
β
ββ2025β Residue 72
NM_198428.3(BBS9):c.442+1G>CPathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome
β
β
ββ2025
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|BBS9-related disorder
β
β
ββ2025β Residue 322
NM_198428.3(BBS9):c.310del (p.Cys104fs)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|BBS9-related disorder
β
β
ββ2025β Residue 104
NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome
β
β
ββ2025β Residue 66
NM_198428.3(BBS9):c.263+1G>APathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|BBS9-related disorder
β
β
ββ2025
NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)Pathogenic
Bardet-Biedl syndrome|not provided
β
β
ββ2025β Residue 428
NM_198428.3(BBS9):c.1693+1G>APathogenic
not provided|Bardet-Biedl syndrome 9|BBS9-related disorder|Bardet-Biedl syndrome
β
β
ββ2025
NM_198428.3(BBS9):c.1789+1G>CPathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome
β
β
ββ2024
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 9
β
β
ββ2024β Residue 492
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|not provided
β
β
ββ2024β Residue 521
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome|not provided|BBS9-related disorder|Early onset severe obesity
β
β
ββ2024β Residue 355
NM_198428.3(BBS9):c.1812del (p.Glu604fs)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome
β
β
ββ2024β Residue 604