NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)Pathogenic
Pseudoachondroplasia, severe|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided|Multiple epiphyseal dysplasia type 1
β
β
ββ2026β Residue 719
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided|Multiple epiphyseal dysplasia type 1
β
β
ββ2026β Residue 473
NM_000095.3(COMP):c.827C>G (p.Pro276Arg)Pathogenic
not provided
β
β
ββ2025β Residue 276
NM_000095.3(COMP):c.1754C>T (p.Thr585Met)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided|Multiple epiphyseal dysplasia|COMP-related disorder
β
β
ββ2025β Residue 585
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)Pathogenic
Multiple epiphyseal dysplasia type 1|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided|Multiple epiphyseal dysplasia
β
β
ββ2025β Residue 473
NM_000095.3(COMP):c.895G>A (p.Gly299Arg)Pathogenic
not provided|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
β
β
ββ2025β Residue 299
NM_000095.3(COMP):c.1021_1026del (p.Glu341_Asp342del)Pathogenic
not provided
β
β
ββ2025β Residue 341
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)Pathogenic
not provided|Multiple epiphyseal dysplasia type 1|Multiple epiphyseal dysplasia|Multiple epiphyseal dysplasia type 1;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Carpal tunnel syndrome 2
β
β
ββ2025β Residue 385
NM_000095.3(COMP):c.976G>A (p.Asp326Asn)Pathogenic
Multiple epiphyseal dysplasia type 1|not provided|COMP-related disorder
β
β
ββ2025β Residue 326
NM_000095.3(COMP):c.1317C>G (p.Asp439Glu)Pathogenic
not provided|Multiple epiphyseal dysplasia type 1
β
β
ββ2025β Residue 439
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided
β
β
ββ2025β Residue 719
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn)Likely pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided|Multiple epiphyseal dysplasia type 1
β
β
ββ2025β Residue 437
NM_000095.3(COMP):c.1423G>A (p.Asp475Asn)Pathogenic
not provided
β
β
ββ2025β Residue 475
NM_000095.3(COMP):c.1201G>A (p.Asp401Asn)Pathogenic
not provided
β
β
ββ2025β Residue 401
NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided
β
β
ββ2025β Residue 457
NM_000095.3(COMP):c.925G>A (p.Gly309Arg)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided
β
β
ββ2025β Residue 309
NM_000095.3(COMP):c.806A>G (p.Asp269Gly)Pathogenic
not provided|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
β
β
ββ2025β Residue 269
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)Pathogenic
Multiple epiphyseal dysplasia type 1|not provided|Multiple epiphyseal dysplasia
β
β
ββ2024β Residue 523
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)Pathogenic
Multiple epiphyseal dysplasia type 1|not provided|Carpal tunnel syndrome 2|Multiple epiphyseal dysplasia
β
β
ββ2024β Residue 718
NM_000095.3(COMP):c.1552G>C (p.Asp518His)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided
β
β
ββ2024β Residue 518