| - GRCh37:
- Chr19:11687360
- GRCh38:
- Chr19:11576545
| ACP5 | Q145* | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687209
- GRCh38:
- Chr19:11576394
| ACP5 | A195G | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685825-11688132
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Pathogenic
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687226
- GRCh38:
- Chr19:11576411
| ACP5 | K189N | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687075-11687083
- GRCh38:
- Chr19:11576260-11576268
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Pathogenic
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687063
- GRCh38:
- Chr19:11576248
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687334
- GRCh38:
- Chr19:11576519
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688105
- GRCh38:
- Chr19:11577290
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688077
- GRCh38:
- Chr19:11577262
| ACP5 | A19V | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685881
- GRCh38:
- Chr19:11575066
| ACP5 | E308K | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687273
- GRCh38:
- Chr19:11576458
| ACP5 | R174G | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686001
- GRCh38:
- Chr19:11575186
| ACP5 | K268E | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688125
- GRCh38:
- Chr19:11577310
| ACP5 | M3T | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688043
- GRCh38:
- Chr19:11577228
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687091
- GRCh38:
- Chr19:11576276
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687262
- GRCh38:
- Chr19:11576447
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687381
- GRCh38:
- Chr19:11576566
| ACP5 | R138C | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jul 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687135
- GRCh38:
- Chr19:11576320
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686048
- GRCh38:
- Chr19:11575233
| ACP5 | G252D | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687243
- GRCh38:
- Chr19:11576428
| ACP5 | Q184* | Spondyloenchondrodysplasia with immune dysregulation | Pathogenic
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688128
- GRCh38:
- Chr19:11577313
| ACP5 | D2A | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688024
- GRCh38:
- Chr19:11577209
| ACP5 | V37I | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687044
- GRCh38:
- Chr19:11576229
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687159-11687165
- GRCh38:
- Chr19:11576344-11576350
| ACP5 | S210fs | Spondyloenchondrodysplasia with immune dysregulation | Pathogenic
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687514
- GRCh38:
- Chr19:11576699
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687587
- GRCh38:
- Chr19:11576772
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688003
- GRCh38:
- Chr19:11577188
| ACP5 | T44A | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687420
- GRCh38:
- Chr19:11576605
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688115
- GRCh38:
- Chr19:11577300
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687945
- GRCh38:
- Chr19:11577130
| ACP5 | A63V | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Feb 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687223
- GRCh38:
- Chr19:11576408
| ACP5 | K190N | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685854
- GRCh38:
- Chr19:11575039
| ACP5 | T317A | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688073
- GRCh38:
- Chr19:11577258
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687261
- GRCh38:
- Chr19:11576446
| ACP5 | V178M | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687210
- GRCh38:
- Chr19:11576395
| ACP5 | A195T | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687142
- GRCh38:
- Chr19:11576327
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687135-11687139
- GRCh38:
- Chr19:11576320-11576324
| ACP5 | C219fs | Spondyloenchondrodysplasia with immune dysregulation | Pathogenic
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687048
- GRCh38:
- Chr19:11576233
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685827
- GRCh38:
- Chr19:11575012
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687554
- GRCh38:
- Chr19:11576739
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688082
- GRCh38:
- Chr19:11577267
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686073
- GRCh38:
- Chr19:11575258
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687569
- GRCh38:
- Chr19:11576754
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687120-11687121
- GRCh38:
- Chr19:11576305-11576306
| ACP5 | R225W | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685933
- GRCh38:
- Chr19:11575118
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687981
- GRCh38:
- Chr19:11577166
| ACP5 | A51D | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687518
- GRCh38:
- Chr19:11576703
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687181
- GRCh38:
- Chr19:11576366
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687989
- GRCh38:
- Chr19:11577174
| ACP5 | M48I | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687670-11687673
- GRCh38:
- Chr19:11576855-11576858
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687558
- GRCh38:
- Chr19:11576743
| ACP5 | I121T | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687622
- GRCh38:
- Chr19:11576807
| ACP5 | R100C | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685833
- GRCh38:
- Chr19:11575018
| ACP5 | R324G | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685873
- GRCh38:
- Chr19:11575058
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687588
- GRCh38:
- Chr19:11576773
| ACP5 | H111R | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686065
- GRCh38:
- Chr19:11575250
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687215
- GRCh38:
- Chr19:11576400
| ACP5 | A193V | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687171
- GRCh38:
- Chr19:11576356
| ACP5 | V208L | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685901
- GRCh38:
- Chr19:11575086
| ACP5 | E301G | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687859
- GRCh38:
- Chr19:11577044
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687522
- GRCh38:
- Chr19:11576707
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Sep 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687535
- GRCh38:
- Chr19:11576720
| ACP5 | R129C | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688064
- GRCh38:
- Chr19:11577249
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687547-11687548
- GRCh38:
- Chr19:11576732-11576733
| ACP5 | K125* | Spondyloenchondrodysplasia with immune dysregulation | Pathogenic
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687176
- GRCh38:
- Chr19:11576361
| ACP5 | Y206C | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685883
- GRCh38:
- Chr19:11575068
| ACP5 | I307N | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685894
- GRCh38:
- Chr19:11575079
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685978
- GRCh38:
- Chr19:11575163
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Nov 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687355
- GRCh38:
- Chr19:11576540
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687414
- GRCh38:
- Chr19:11576599
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687208
- GRCh38:
- Chr19:11576393
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688118
- GRCh38:
- Chr19:11577303
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687133
- GRCh38:
- Chr19:11576318
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687516
- GRCh38:
- Chr19:11576701
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687373
- GRCh38:
- Chr19:11576558
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686026
- GRCh38:
- Chr19:11575211
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687151
- GRCh38:
- Chr19:11576336
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687050
- GRCh38:
- Chr19:11576235
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686023
- GRCh38:
- Chr19:11575208
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Aug 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687130
- GRCh38:
- Chr19:11576315
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685840
- GRCh38:
- Chr19:11575025
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686038
- GRCh38:
- Chr19:11575223
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687590
- GRCh38:
- Chr19:11576775
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686047
- GRCh38:
- Chr19:11575232
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687566
- GRCh38:
- Chr19:11576751
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687376
- GRCh38:
- Chr19:11576561
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687157
- GRCh38:
- Chr19:11576342
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686020
- GRCh38:
- Chr19:11575205
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687051
- GRCh38:
- Chr19:11576236
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687214
- GRCh38:
- Chr19:11576399
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686045
- GRCh38:
- Chr19:11575230
| ACP5 | V253A | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11686074
- GRCh38:
- Chr19:11575259
| ACP5 | | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688048
- GRCh38:
- Chr19:11577233
| ACP5 | V29I | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685955
- GRCh38:
- Chr19:11575140
| ACP5 | Y283C | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:11687072
- GRCh38:
- Chr19:11576257
| ACP5 | D241N | Spondyloenchondrodysplasia with immune dysregulation | Pathogenic
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11688036
- GRCh38:
- Chr19:11577221
| ACP5 | D33N | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687631
- GRCh38:
- Chr19:11576816
| ACP5 | R97C | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11685971
- GRCh38:
- Chr19:11575156
| ACP5 | Y278H | Spondyloenchondrodysplasia with immune dysregulation | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11687586
- GRCh38:
- Chr19:11576771
| ACP5 | D112N | Spondyloenchondrodysplasia with immune dysregulation, not provided | Uncertain significance
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:11687967
- GRCh38:
- Chr19:11577152
| ACP5 | R56W | Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases | Uncertain significance
(Nov 15, 2021) | criteria provided, multiple submitters, no conflicts |