NM_015910.7(WDPCP):c.209-1G>ALikely pathogenic
Bardet-Biedl syndrome 15|Bardet-Biedl syndrome|Heart defect - tongue hamartoma - polysyndactyly syndrome;Bardet-Biedl syndrome 15|Heart defect - tongue hamartoma - polysyndactyly syndrome
β
β
ββ2025
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter)Pathogenic
Bardet-Biedl syndrome|Inborn genetic diseases|WDPCP-related disorder
β
β
ββ2025β Residue 327
NM_015910.7(WDPCP):c.826-1G>ALikely pathogenic
Bardet-Biedl syndrome
β
β
ββ2025
NM_015910.7(WDPCP):c.552_553del (p.Cys185fs)Pathogenic
Heart defect - tongue hamartoma - polysyndactyly syndrome|Bardet-Biedl syndrome
β
β
ββ2024β Residue 185
NM_015910.7(WDPCP):c.633+2T>CLikely pathogenic
Bardet-Biedl syndrome|Heart defect - tongue hamartoma - polysyndactyly syndrome|Bardet-Biedl syndrome 15
β
β
ββ2024
NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β
β
ββ2024β Residue 252
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β
β
ββ2024β Residue 183
NM_015910.7(WDPCP):c.512_515del (p.Asp171fs)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome|WDPCP-related disorder
β
β
ββ2024β Residue 171
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs)Pathogenic
Bardet-Biedl syndrome|not provided
β
β
ββ2022β Residue 451
NM_015910.7(WDPCP):c.1436-1G>CLikely pathogenic
Bardet-Biedl syndrome
β
βββ2025
NM_015910.7(WDPCP):c.925_931del (p.Asp309fs)Pathogenic
Bardet-Biedl syndrome
β
βββ2024β Residue 309
NM_015910.7(WDPCP):c.1436-1G>ALikely pathogenic
Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β
βββ2024
NM_015910.7(WDPCP):c.634-1G>ALikely pathogenic
Bardet-Biedl syndrome
β
βββ2024
NM_015910.7(WDPCP):c.541C>T (p.Gln181Ter)Likely pathogenic
not provided|Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β
βββ2024β Residue 181
NM_015910.7(WDPCP):c.301C>T (p.Arg101Ter)Pathogenic
Bardet-Biedl syndrome|WDPCP-related disorder
β
βββ2024β Residue 101
NM_015910.7(WDPCP):c.917dup (p.Ser307fs)Likely pathogenic
Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β
βββ2024β Residue 307
NM_015910.7(WDPCP):c.3G>A (p.Met1Ile)Likely pathogenic
Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β
βββ2024β Residue 1
NM_015910.7(WDPCP):c.1600C>T (p.Gln534Ter)Likely pathogenic
Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β
βββ2024β Residue 534
NM_015910.7(WDPCP):c.216del (p.Glu72fs)Pathogenic
Bardet-Biedl syndrome
β
βββ2023β Residue 72
NM_015910.7(WDPCP):c.881_884del (p.Lys294fs)Likely pathogenic
Heart defect - tongue hamartoma - polysyndactyly syndrome
β
βββ2023β Residue 294