| - GRCh37:
- Chr4:102267821-102267822
- GRCh38:
- Chr4:101346664-101346665
| PPP3CA, LOC129992871 | | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1 | Benign
(Jul 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:101953511-101953512
- GRCh38:
- Chr4:101032354-101032355
| PPP3CA | S375fs, S417fs | Epileptic encephalopathy, infantile or early childhood, 1 | Pathogenic
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:102019636
- GRCh38:
- Chr4:101098479
| PPP3CA | A177G | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:102014953
- GRCh38:
- Chr4:101093796
| PPP3CA | R254S | Epileptic encephalopathy, infantile or early childhood, 1 | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:102019689
- GRCh38:
- Chr4:101098532
| PPP3CA | | Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, not provided
| Likely benign
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102001671
- GRCh38:
- Chr4:101080514
| PPP3CA | | Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, not provided
| Likely benign
(Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101947199
- GRCh38:
- Chr4:101026042
| PPP3CA | | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101961622
- GRCh38:
- Chr4:101040465
| PPP3CA | | not provided, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101982229
- GRCh38:
- Chr4:101061072
| PPP3CA | | Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, not provided
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102117245
- GRCh38:
- Chr4:101196088
| PPP3CA | | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101947160
- GRCh38:
- Chr4:101026003
| PPP3CA | | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1, not provided
| Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102001671
- GRCh38:
- Chr4:101080514
| PPP3CA | | Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, not provided
| Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101982224
- GRCh38:
- Chr4:101061067
| PPP3CA | | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Benign/Likely benign
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101982224
- GRCh38:
- Chr4:101061067
| PPP3CA | | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102019578
- GRCh38:
- Chr4:101098421
| PPP3CA | | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Benign/Likely benign
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101953408-101953409
- GRCh38:
- Chr4:101032251-101032252
| LOC123477793, PPP3CA | | not provided, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102019608
- GRCh38:
- Chr4:101098451
| PPP3CA | | not provided, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1
| Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102030093
- GRCh38:
- Chr4:101108936
| PPP3CA | | not provided, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1
| Benign/Likely benign
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102117194
- GRCh38:
- Chr4:101196037
| PPP3CA | | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102001797
- GRCh38:
- Chr4:101080640
| PPP3CA | | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101947163
- GRCh38:
- Chr4:101026006
| PPP3CA | | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102020757
- GRCh38:
- Chr4:101099600
| PPP3CA | | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1, not provided
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102004427
- GRCh38:
- Chr4:101083270
| PPP3CA | | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1, not provided
| Likely benign
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102019647
- GRCh38:
- Chr4:101098490
| PPP3CA | | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Likely benign
(Aug 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101947155
- GRCh38:
- Chr4:101025998
| PPP3CA | R468Q, R426Q, R478Q | Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, not provided
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101953498
- GRCh38:
- Chr4:101032341
| PPP3CA | T380M, T422M | Inborn genetic diseases, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development,
not provided | Uncertain significance
(Apr 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101947050
- GRCh38:
- Chr4:101025893
| PPP3CA | N513S, N461S, N503S | Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, not provided
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102117207
- GRCh38:
- Chr4:101196050
| PPP3CA | R42H | Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, not provided
| Uncertain significance
(Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102015059
- GRCh38:
- Chr4:101093902
| PPP3CA | K219R | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102004374
- GRCh38:
- Chr4:101083217
| PPP3CA | I277V | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Uncertain significance
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102267911-102267920
- GRCh38:
- Chr4:101346754-101346763
| PPP3CA | S12fs | Epileptic encephalopathy, infantile or early childhood, 1 | Likely pathogenic
(Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:102225599
- GRCh38:
- Chr4:101304442
| PPP3CA | | Epileptic encephalopathy, infantile or early childhood, 1 | Uncertain significance
(Mar 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:102129623
- GRCh38:
- Chr4:101208466
| PPP3CA | | Epileptic encephalopathy, infantile or early childhood, 1 | Uncertain significance
(Jul 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:101953463-101953464
- GRCh38:
- Chr4:101032306-101032307
| PPP3CA | S392fs, S434fs | Epileptic encephalopathy, infantile or early childhood, 1 | Pathogenic
(Jan 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:101953479-101953480
- GRCh38:
- Chr4:101032322-101032323
| PPP3CA | T387fs, T429fs | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1, not provided
| Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101947111
- GRCh38:
- Chr4:101025954
| PPP3CA | D493N, D483N, D441N | Epileptic encephalopathy, infantile or early childhood, 1 | Likely pathogenic
(Dec 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:101953448-101953452
- GRCh38:
- Chr4:101032291-101032295
| PPP3CA | S438fs, S396fs | Epileptic encephalopathy, infantile or early childhood, 1 | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:101982237
- GRCh38:
- Chr4:101061080
| PPP3CA | | not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101947202
- GRCh38:
- Chr4:101026045
| PPP3CA | | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1, not provided
| Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101953472-101953473
- GRCh38:
- Chr4:101032315-101032316
| PPP3CA | M431fs, M389fs | Epileptic encephalopathy, infantile or early childhood, 1 | Pathogenic
(Mar 15, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr4:101953451-101953452
- GRCh38:
- Chr4:101032294-101032295
| PPP3CA | S438fs, S396fs | Epileptic encephalopathy, infantile or early childhood, 1 | Pathogenic
(Nov 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:101953507-101953508
- GRCh38:
- Chr4:101032350-101032351
| PPP3CA | S377fs, S419fs | not provided | Pathogenic
(Aug 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:102004359
- GRCh38:
- Chr4:101083202
| PPP3CA | E282K | not provided, Inborn genetic diseases, Epileptic encephalopathy, infantile or early childhood, 1
| Pathogenic/Likely pathogenic
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102004360
- GRCh38:
- Chr4:101083203
| PPP3CA | H281Q | Epileptic encephalopathy, infantile or early childhood, 1 | Likely pathogenic
(Jan 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:101953424
- GRCh38:
- Chr4:101032267
| PPP3CA | A447T, A405T | Epileptic encephalopathy, infantile or early childhood, 1, not provided | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:102030220
- GRCh38:
- Chr4:101109063
| PPP3CA | H92R | Inborn genetic diseases, Intellectual disability, Seizure
| Pathogenic
(Feb 25, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:101953430
- GRCh38:
- Chr4:101032273
| PPP3CA | Q445*, Q403* | Epileptic encephalopathy, infantile or early childhood, 1 | Pathogenic
(Mar 15, 2021) | no assertion criteria provided |