| - GRCh37:
- Chr15:89386733
- GRCh38:
- Chr15:88843502
| ACAN | L302P | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Likely pathogenic
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89401582
- GRCh38:
- Chr15:88858351
| ACAN | Y1922* | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:89381952
- GRCh38:
- Chr15:88838721
| ACAN | T45fs | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:89382209
- GRCh38:
- Chr15:88838978
| ACAN | G129E | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Uncertain significance
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89400144
- GRCh38:
- Chr15:88856913
| ACAN | P1443R | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Uncertain significance
(Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89401490
- GRCh38:
- Chr15:88858259
| ACAN | P1892S | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Uncertain significance
(Jan 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89392935-89392936
- GRCh38:
- Chr15:88849704-88849705
| ACAN | R668fs | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Pathogenic
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89416148
- GRCh38:
- Chr15:88872917
| ACAN | F2448fs, F2372fs, F2410fs | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Likely pathogenic
(Jan 10, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr15:89386747
- GRCh38:
- Chr15:88843516
| ACAN | V307M | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Uncertain significance
(Sep 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89401674
- GRCh38:
- Chr15:88858443
| ACAN | E1953fs | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Likely pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89398599
- GRCh38:
- Chr15:88855368
| ACAN | W928* | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:7211-7214
| | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Pathogenic
(Mar 18, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr15:2897-2953
| | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Uncertain risk allele | no assertion criteria provided |
| - GRCh37:
- Chr15:89417124
- GRCh38:
- Chr15:88873893
| ACAN | K2462R, K2500R | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type
| Benign
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89414671
- GRCh38:
- Chr15:88871440
| ACAN | F2297L, F2335L, F2373L | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type
| Benign
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89399986
- GRCh38:
- Chr15:88856755
| ACAN | D1390E | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type
| Benign
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:2831-2832
| | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:5185
| | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Pathogenic
(Feb 26, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr15:89400289
- GRCh38:
- Chr15:88857058
| ACAN | S1492fs | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89391192-89391193
- GRCh38:
- Chr15:88847961-88847962
| ACAN | G554fs | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Likely pathogenic
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89398355
- GRCh38:
- Chr15:88855124
| ACAN | P847A | Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
| Uncertain significance
(Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89381914
- GRCh38:
- Chr15:88838683
| ACAN | V31F | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Uncertain significance
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89382124
- GRCh38:
- Chr15:88838893
| ACAN | Q101* | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89386664
- GRCh38:
- Chr15:88843433
| ACAN | R279Q | Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans,
not provided | Uncertain significance
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89382114-89382136
- GRCh38:
- Chr15:88838883-88838905
| ACAN | S98fs | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Likely pathogenic
(Feb 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89416239
- GRCh38:
- Chr15:88873008
| ACAN | T2401K, T2439K, T2477K | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr15:89391140
- GRCh38:
- Chr15:88847909
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Osteochondritis dissecans | Pathogenic
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89416198
- GRCh38:
- Chr15:88872967
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Osteochondritis dissecans
| Uncertain significance
(Jul 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89392959
- GRCh38:
- Chr15:88849728
| ACAN | R675* | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Likely pathogenic
(Dec 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89390520
- GRCh38:
- Chr15:88847289
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type,
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepiphyseal dysplasia, Kimberley type,
Spondyloepimetaphyseal dysplasia, aggrecan type | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89398996
- GRCh38:
- Chr15:88855765
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepiphyseal dysplasia, Kimberley type,
Spondyloepimetaphyseal dysplasia, aggrecan type | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89398553
- GRCh38:
- Chr15:88855322
| ACAN | P913T | not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89385151
- GRCh38:
- Chr15:88841920
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepiphyseal dysplasia, Kimberley type,
Spondyloepimetaphyseal dysplasia, aggrecan type | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89398407
- GRCh38:
- Chr15:88855176
| ACAN | P864L | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89386889
- GRCh38:
- Chr15:88843658
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type,
not provided | Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89382129
- GRCh38:
- Chr15:88838898
| ACAN | D102E | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89388905
- GRCh38:
- Chr15:88845674
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89392818
- GRCh38:
- Chr15:88849587
| ACAN | A628T | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89386888
- GRCh38:
- Chr15:88843657
| ACAN | | not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89392689
- GRCh38:
- Chr15:88849458
| ACAN | R585S | not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89388894
- GRCh38:
- Chr15:88845663
| ACAN | I404V | not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89390513
- GRCh38:
- Chr15:88847282
| ACAN | S490L | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, not provided,
Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type,
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89402051
- GRCh38:
- Chr15:88858820
| ACAN | I2079V | Osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type,
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Benign
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89398605
- GRCh38:
- Chr15:88855374
| ACAN | S930I | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type,
Spondyloepimetaphyseal dysplasia, aggrecan type | Benign
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89400023
- GRCh38:
- Chr15:88856792
| ACAN | T1403A | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type,
Spondyloepimetaphyseal dysplasia, aggrecan type | Benign
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89398631
- GRCh38:
- Chr15:88855400
| ACAN | S939T | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89400644
- GRCh38:
- Chr15:88857413
| ACAN | P1610fs | Osteochondritis dissecans | Likely pathogenic
(Oct 19, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr15:89382027
- GRCh38:
- Chr15:88838796
| ACAN | | not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89395245
- GRCh38:
- Chr15:88852014
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89391256
- GRCh38:
- Chr15:88848025
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type,
not provided | Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89389082
- GRCh38:
- Chr15:88845851
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, not provided,
Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89382261
- GRCh38:
- Chr15:88839030
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89401825
- GRCh38:
- Chr15:88858594
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type,
not provided | Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89417076
- GRCh38:
- Chr15:88873845
| ACAN | A2446V, A2484V | not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans,
Spondyloepiphyseal dysplasia, Kimberley type | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89389050
- GRCh38:
- Chr15:88845819
| ACAN | F456L | not provided, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type,
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89414756
- GRCh38:
- Chr15:88871525
| ACAN | Q2364*, Q2326*, Q2402* | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Pathogenic
(Sep 28, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr15:89414730
- GRCh38:
- Chr15:88871499
| ACAN | L2355P, L2317P, L2393P | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Pathogenic
(Sep 28, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr15:89399167
- GRCh38:
- Chr15:88855936
| ACAN | | not specified, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided,
Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89382009
- GRCh38:
- Chr15:88838778
| ACAN | | not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type, not specified | Benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89390559
- GRCh38:
- Chr15:88847328
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type,
not specified, not provided | Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89392786
- GRCh38:
- Chr15:88849555
| ACAN | R617H | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type,
not provided, not specified | Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89392802
- GRCh38:
- Chr15:88849571
| ACAN | | not specified, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type,
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89390574
- GRCh38:
- Chr15:88847343
| ACAN | | not specified, not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans,
Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type | Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89395035
- GRCh38:
- Chr15:88851804
| ACAN | | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not specified, Spondyloepimetaphyseal dysplasia, aggrecan type,
Spondyloepiphyseal dysplasia, Kimberley type, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89417149
- GRCh38:
- Chr15:88873918
| ACAN | | not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not specified,
Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type | Benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89416172
- GRCh38:
- Chr15:88872941
| ACAN | V2379M, V2417M, V2455M | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | Pathogenic
(Feb 12, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr15:89415269
- GRCh38:
- Chr15:88872038
| ACAN | D2343N, D2381N, D2419N | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided | Likely pathogenic
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |