| - GRCh37:
- ChrX:53440202
- GRCh38:
- ChrX:53413252
| SMC1A | A177T, A199T | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- ChrX:53410108
- GRCh38:
- ChrX:53383187
| SMC1A | Q1014*, Q992* | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Likely pathogenic
(Jul 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:53439867-53439869
- GRCh38:
- ChrX:53412917-53412919
| SMC1A | Q257del, Q279del | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:53410025
- GRCh38:
- ChrX:53383104
| SMC1A | S1020fs, S1042fs | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Pathogenic
(Sep 8, 2002) | no assertion criteria provided |
| - GRCh37:
- ChrX:53432018
- GRCh38:
- ChrX:53405086
| SMC1A | L686fs, L708fs | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:53438847
- GRCh38:
- ChrX:53411897
| SMC1A | K351R, K373R | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:53432064
- GRCh38:
- ChrX:53405132
| SMC1A | K670fs, K692fs | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Pathogenic
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:53426494
- GRCh38:
- ChrX:53399572
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome
| Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53407996
- GRCh38:
- ChrX:53381075
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome
| Likely benign
(Oct 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53439833
- GRCh38:
- ChrX:53412883
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53449428
- GRCh38:
- ChrX:53422479
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects
| Likely benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53432016
- GRCh38:
- ChrX:53405084
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects
| Likely benign
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53408026
- GRCh38:
- ChrX:53381105
| SMC1A | | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
| Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53432337
- GRCh38:
- ChrX:53405405
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53432413
- GRCh38:
- ChrX:53405481
| SMC1A | | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
| Benign/Likely benign
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53436135
- GRCh38:
- ChrX:53409204
| SMC1A | R446Q, R468Q | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
| Uncertain significance
(May 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53432492
- GRCh38:
- ChrX:53405560
| SMC1A | N593S, N615S | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome | Uncertain significance
(Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53432201-53432203
- GRCh38:
- ChrX:53405269-53405271
| SMC1A | K656del, K678del | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome | Likely pathogenic
(Jan 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:53435988
- GRCh38:
- ChrX:53409057
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome,
not provided | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53438985-53438986
- GRCh38:
- ChrX:53412035-53412036
| SMC1A | Q337fs, Q359fs | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Likely pathogenic
(Nov 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:53441911
- GRCh38:
- ChrX:53414962
| SMC1A | | not provided, Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects,
Congenital muscular hypertrophy-cerebral syndrome | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53409531
- GRCh38:
- ChrX:53382610
| SMC1A | Q1039*, Q1061* | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:53439107
- GRCh38:
- ChrX:53412157
| SMC1A | | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
| Likely benign
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53423502
- GRCh38:
- ChrX:53396582
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome
| Likely benign
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53432856
- GRCh38:
- ChrX:53405924
| SMC1A | | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
| Likely benign
(Jan 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53440368
- GRCh38:
- ChrX:53413418
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome
| Likely benign
(Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53407604
- GRCh38:
- ChrX:53380683
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome
| Likely benign
(Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53409567
- GRCh38:
- ChrX:53382646
| SMC1A | R1027*, R1049* | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome | Pathogenic
(Oct 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53436190-53436196
- GRCh38:
- ChrX:53409259-53409265
| SMC1A | S426fs, S448fs | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Likely pathogenic
(Mar 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:53430524
- GRCh38:
- ChrX:53403592
| SMC1A | K776fs, K798fs | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Pathogenic
(Dec 1, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:53423417
- GRCh38:
- ChrX:53396497
| SMC1A | R895G, R873G | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Pathogenic
(Dec 1, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:53410033
- GRCh38:
- ChrX:53383112
| SMC1A | Q1039*, Q1017* | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Pathogenic
(Dec 1, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:53426596
- GRCh38:
- ChrX:53399674
| SMC1A | N804fs, N826fs | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Pathogenic
(Dec 1, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:53430825
- GRCh38:
- ChrX:53403893
| SMC1A | E733*, E711* | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Pathogenic
(Dec 1, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:53430554
- GRCh38:
- ChrX:53403622
| SMC1A | N766fs, N788fs | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Pathogenic
(Dec 1, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:53432424
- GRCh38:
- ChrX:53405492
| SMC1A | | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Pathogenic
(Dec 1, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:53441746
- GRCh38:
- ChrX:53414797
| SMC1A | L102F, L124F | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome
| Likely benign
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53432090
- GRCh38:
- ChrX:53405158
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome
| Likely benign
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53408015
- GRCh38:
- ChrX:53381094
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Inborn genetic diseases,
not specified, Congenital muscular hypertrophy-cerebral syndrome | Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53439143
- GRCh38:
- ChrX:53412193
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Inborn genetic diseases,
Congenital muscular hypertrophy-cerebral syndrome | Likely benign
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53440303
- GRCh38:
- ChrX:53413353
| SMC1A | A143V, A165V | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
| Uncertain significance
(Apr 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53423454
- GRCh38:
- ChrX:53396534
| SMC1A | | Inborn genetic diseases, Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects,
Congenital muscular hypertrophy-cerebral syndrome | Likely benign
(Mar 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53423217
- GRCh38:
- ChrX:53396297
| SMC1A | Q909R, Q931R | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53407978
- GRCh38:
- ChrX:53381057
| SMC1A | D1134E, D1156E | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, not specified
| Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53438960
- GRCh38:
- ChrX:53412010
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, not specified, Developmental and epileptic encephalopathy, 85, with or without midline brain defects,
Congenital muscular hypertrophy-cerebral syndrome | Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53410167
- GRCh38:
- ChrX:53383246
| SMC1A | Q972R, Q994R | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Pes cavus,
Spastic paraplegia, Pectus excavatum, Cognitive impairment,
Abnormal corpus callosum morphology, Polyneuropathy, Cerebellar atrophy,
Dysarthria | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53438792
- GRCh38:
- ChrX:53411842
| SMC1A | | Inborn genetic diseases, not provided, Congenital muscular hypertrophy-cerebral syndrome,
Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects | Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53407606-53407607
- GRCh38:
- ChrX:53380685-53380686
| SMC1A | I1163fs, I1185fs | Congenital muscular hypertrophy-cerebral syndrome | Pathogenic
(Sep 8, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:53423153-53423156
- GRCh38:
- ChrX:53396233-53396236
| SMC1A | S951fs, S929fs | Congenital muscular hypertrophy-cerebral syndrome, not provided | Pathogenic
(Mar 8, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53436366
- GRCh38:
- ChrX:53409435
| SMC1A | | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, not specified,
Inborn genetic diseases, Congenital muscular hypertrophy-cerebral syndrome, not provided
| Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53440005
- GRCh38:
- ChrX:53413055
| SMC1A | | Inborn genetic diseases, not specified, not provided,
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects
| Benign/Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53440094
- GRCh38:
- ChrX:53413144
| SMC1A | | not specified, not provided, Developmental and epileptic encephalopathy, 85, with or without midline brain defects,
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome | Benign/Likely benign
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53407996
- GRCh38:
- ChrX:53381075
| SMC1A | | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases,
not specified, not provided, Congenital muscular hypertrophy-cerebral syndrome
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53432009
- GRCh38:
- ChrX:53405077
| SMC1A | R711W, R689W | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, not provided,
Congenital muscular hypertrophy-cerebral syndrome | Pathogenic/Likely pathogenic
(Jan 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53432736
- GRCh38:
- ChrX:53405804
| SMC1A | | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases,
not specified, not provided, Congenital muscular hypertrophy-cerebral syndrome
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:53449568
- GRCh38:
- ChrX:53422619
| SMC1A | | Developmental and epileptic encephalopathy, 85, with or without midline brain defects, not specified, not provided,
De Lange syndrome, Congenital muscular hypertrophy-cerebral syndrome | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |