| - GRCh38:
- ChrX:41333187-42099271
| CASK, DDX3X, GPR34, GPR82, LOC113875025, LOC126863241, NYX | | Syndromic X-linked intellectual disability Najm type, Intellectual disability, X-linked 102 | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh38:
- ChrX:41786713-41853325
| CASK | | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41413070
- GRCh38:
- ChrX:41553817
| CASK | Q618H, Q624H, Q641H, Q647H | Syndromic X-linked intellectual disability Najm type | Uncertain significance
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41414884
- GRCh38:
- ChrX:41555631
| CASK | L575fs, L581fs, L598fs, L604fs | Syndromic X-linked intellectual disability Najm type | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:41646428-41646429
- GRCh38:
- ChrX:41787175-41787176
| CASK | | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Jun 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41379775-41379776
- GRCh38:
- ChrX:41520522-41520523
| CASK | T864fs, T865fs, T887fs, T888fs, T893fs | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Apr 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41420898
- GRCh38:
- ChrX:41561645
| CASK | | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41394213
- GRCh38:
- ChrX:41534960
| CASK | | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41524649
- GRCh38:
- ChrX:41665396
| CASK | G197* | Syndromic X-linked intellectual disability Najm type | Pathogenic
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41524673
- GRCh38:
- ChrX:41665420
| CASK | E189Q | Syndromic X-linked intellectual disability Najm type | Uncertain significance
(Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41428993
- GRCh38:
- ChrX:41569740
| CASK | T498fs, T504fs | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41420815
- GRCh38:
- ChrX:41561562
| CASK | M549I, M555I | Syndromic X-linked intellectual disability Najm type | Uncertain significance
(Oct 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41519698
- GRCh38:
- ChrX:41660445
| CASK | W275* | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41530707
- GRCh38:
- ChrX:41671454
| CASK | L169* | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41390356
- GRCh38:
- ChrX:41531103
| CASK | | Syndromic X-linked intellectual disability Najm type, FG syndrome 4, Anemia, nonspherocytic hemolytic, due to G6PD deficiency,
Intellectual disability, CASK-related, X-linked | Likely benign
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41604776
- GRCh38:
- ChrX:41745523
| CASK | | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Jun 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41495830
- GRCh38:
- ChrX:41636577
| CASK | | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Oct 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41524710
- GRCh38:
- ChrX:41665457
| CASK | | Syndromic X-linked intellectual disability Najm type | Uncertain significance
(Oct 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41428920
- GRCh38:
- ChrX:41569667
| CASK | | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41383278
- GRCh38:
- ChrX:41524025
| CASK | V815F, V816F, V839F, V844F, V838F | Syndromic X-linked intellectual disability Najm type | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41401944
- GRCh38:
- ChrX:41542691
| CASK | D696N, D719N, V690M, V719M, V713M | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41782186
- GRCh38:
- ChrX:41922933
| CASK | G19E | Syndromic X-linked intellectual disability Najm type | Uncertain significance
(Dec 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41379846
- GRCh38:
- ChrX:41520593
| CASK | E841fs, E842fs, E865fs, E870fs | Syndromic X-linked intellectual disability Najm type | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:41446218
- GRCh38:
- ChrX:41586965
| CASK | Y413fs, Y419fs | Syndromic X-linked intellectual disability Najm type | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:41412971
- GRCh38:
- ChrX:41553718
| CASK | | Syndromic X-linked intellectual disability Najm type | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:41524622
- GRCh38:
- ChrX:41665369
| CASK | G206S | not provided, Syndromic X-linked intellectual disability Najm type, FG syndrome 4,
Intellectual disability | Conflicting interpretations of pathogenicity
(May 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:41519798
- GRCh38:
- ChrX:41660545
| CASK | W242* | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Dec 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41519817
- GRCh38:
- ChrX:41660564
| CASK | | Intellectual disability, CASK-related, X-linked, Syndromic X-linked intellectual disability Najm type | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:41413013-41413014
- GRCh38:
- ChrX:41553760-41553761
| CASK | N643fs, N637fs, N666fs | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Aug 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41413041
- GRCh38:
- ChrX:41553788
| CASK | W628*, W634*, W657*, W651* | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Dec 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41598707
- GRCh38:
- ChrX:41739454
| CASK | H120R | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Jan 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41519743-41519749
- GRCh38:
- ChrX:41660490-41660496
| CASK | M258fs | Syndromic X-linked intellectual disability Najm type | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41519736
- GRCh38:
- ChrX:41660483
| CASK | E263K | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41437702-41437711
- GRCh38:
- ChrX:41578449-41578458
| CASK | P462fs, P456fs | Syndromic X-linked intellectual disability Najm type | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41390351
- GRCh38:
- ChrX:41531098
| CASK | S781N, S782N, S805N, S810N, S804N | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Apr 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41495831-41495832
- GRCh38:
- ChrX:41636578-41636579
| CASK | G306fs | FG syndrome 4, Syndromic X-linked intellectual disability Najm type | Pathogenic
(Dec 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41519699
- GRCh38:
- ChrX:41660446
| CASK | W275* | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41401978-41401979
- GRCh38:
- ChrX:41542725-41542726
| CASK | Y708fs, Y679fs, Y685fs | Congenital cerebellar hypoplasia, Syndromic X-linked intellectual disability Najm type | Pathogenic/Likely pathogenic
(Feb 18, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:41524707
- GRCh38:
- ChrX:41665454
| CASK | | Congenital cerebellar hypoplasia, Syndromic X-linked intellectual disability Najm type | Pathogenic/Likely pathogenic
(Feb 18, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:41394227
- GRCh38:
- ChrX:41534974
| CASK | | Congenital cerebellar hypoplasia, Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Feb 18, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:41383247
- GRCh38:
- ChrX:41523994
| CASK | V849A, V825A, V854A, V826A, V848A | FG syndrome 4, Syndromic X-linked intellectual disability Najm type | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:41390437-41390438
- GRCh38:
- ChrX:41531184-41531185
| CASK | D752fs, D781fs, D753fs, D776fs | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Jun 4, 2018) | no assertion criteria provided |
| - GRCh37:
- ChrX:41413101
- GRCh38:
- ChrX:41553848
| CASK | G637D, G614D, G608D, G631D | Syndromic X-linked intellectual disability Najm type, Intellectual disability, CASK-related, X-linked | Conflicting interpretations of pathogenicity
(Aug 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:41420836-41420839
- GRCh38:
- ChrX:41561583-41561586
| CASK | T542fs, T548fs | not provided, Syndromic X-linked intellectual disability Najm type, Intellectual disability, CASK-related, X-linked
| Pathogenic
(May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41401943
- GRCh38:
- ChrX:41542690
| CASK | | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(May 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41420871
- GRCh38:
- ChrX:41561618
| CASK | R537*, R531* | not provided, Syndromic X-linked intellectual disability Najm type | Pathogenic/Likely pathogenic
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41495900
- GRCh38:
- ChrX:41636647
| CASK | Y282* | not provided, Syndromic X-linked intellectual disability Najm type | Pathogenic
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41393958
- GRCh38:
- ChrX:41534705
| CASK | | Intellectual disability, CASK-related, X-linked, not provided, Syndromic X-linked intellectual disability Najm type
| Pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41712431
- GRCh38:
- ChrX:41853178
| CASK | Q37* | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Nov 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41437788
- GRCh38:
- ChrX:41578535
| CASK | | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Nov 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41495900
- GRCh38:
- ChrX:41636647
| CASK | Y282* | Syndromic X-linked intellectual disability Najm type, FG syndrome 4, Syndromic X-linked intellectual disability Najm type,
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Pathogenic
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41413147
- GRCh38:
- ChrX:41553894
| CASK | E622*, E593*, E599*, E616* | not provided, Syndromic X-linked intellectual disability Najm type | Pathogenic
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41383258-41383259
- GRCh38:
- ChrX:41524005-41524006
| CASK | F822fs, F845fs, F850fs, F821fs | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Jul 21, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41383203
- GRCh38:
- ChrX:41523950
| CASK | | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Jul 19, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41524612
- GRCh38:
- ChrX:41665359
| CASK | L209P | Syndromic X-linked intellectual disability Najm type, not provided | Pathogenic/Likely pathogenic
(Nov 1, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41712472
- GRCh38:
- ChrX:41853219
| CASK | F23fs | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Aug 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41414858
- GRCh38:
- ChrX:41555605
| CASK | R613*, R584*, R590*, R607* | not provided, Syndromic X-linked intellectual disability Najm type, Intellectual disability, CASK-related, X-linked
| Pathogenic/Likely pathogenic
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| | CASK | | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Sep 3, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41437631
- GRCh38:
- ChrX:41578378
| CASK | R489W, R483W | Smith-Magenis Syndrome-like, not provided, Syndromic X-linked intellectual disability Najm type
| Pathogenic/Likely pathogenic
(Jan 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41390464
- GRCh38:
- ChrX:41531211
| CASK | | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Sep 9, 2014) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41383261-41383262
- GRCh38:
- ChrX:41524008-41524009
| CASK | E849fs, E820fs, E821fs, E844fs | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Apr 20, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41390388
- GRCh38:
- ChrX:41531135
| CASK | Q793*, Q798*, Q769*, Q770*, Q792* | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Jul 23, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41413030
- GRCh38:
- ChrX:41553777
| CASK | L638fs, L661fs, L632fs | Syndromic X-linked intellectual disability Najm type | Pathogenic
(May 8, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41712461
- GRCh38:
- ChrX:41853208
| CASK | R27* | not provided, Syndromic X-linked intellectual disability Najm type | Pathogenic
(May 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41413035
- GRCh38:
- ChrX:41553782
| CASK | G659D, G630D, G636D, G653D | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41495866
- GRCh38:
- ChrX:41636613
| CASK | Q294* | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41712458
- GRCh38:
- ChrX:41853205
| CASK | R28* | not provided, Inborn genetic diseases, Intellectual disability, CASK-related, X-linked,
Syndromic X-linked intellectual disability Najm type, FG syndrome 4 | Pathogenic
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41519759
- GRCh38:
- ChrX:41660506
| CASK | R255H | not provided, FG syndrome 4, Syndromic X-linked intellectual disability Najm type
| Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:41524529
- GRCh38:
- ChrX:41665276
| CASK | | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41524621
- GRCh38:
- ChrX:41665368
| CASK | G206D | Syndromic X-linked intellectual disability Najm type | Conflicting interpretations of pathogenicity
(Feb 8, 2013) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:41530785
- GRCh38:
- ChrX:41671532
| CASK | | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41390295
- GRCh38:
- ChrX:41531042
| CASK | Q824*, Q800*, Q829*, Q801*, Q823* | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41782215-41782222
- GRCh38:
- ChrX:41922962-41922969
| CASK | L7fs | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Apr 3, 2014) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41402025
- GRCh38:
- ChrX:41542772
| CASK | Q692*, Q663*, Q669*, Q686* | Syndromic X-linked intellectual disability Najm type | Pathogenic/Likely pathogenic
(Dec 3, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41402058
- GRCh38:
- ChrX:41542805
| CASK | R681*, R658*, R652*, R675* | not provided, Syndromic X-linked intellectual disability Najm type | Pathogenic
(Jun 3, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41412972
- GRCh38:
- ChrX:41553719
| CASK | W680S, W657S, W651S, W674S | Syndromic X-linked intellectual disability Najm type | Uncertain significance
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41420835-41420836
- GRCh38:
- ChrX:41561582-41561583
| CASK | V543fs, V549fs | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41446205
- GRCh38:
- ChrX:41586952
| CASK | | Syndromic X-linked intellectual disability Najm type | Uncertain significance
(Mar 4, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41420841
- GRCh38:
- ChrX:41561588
| CASK | Q547*, Q541* | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh38:
- ChrX:41853228-41923555
| CASK | | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Nov 1, 2011) | no assertion criteria provided |
| - GRCh37:
- ChrX:41604817
- GRCh38:
- ChrX:41745564
| CASK | R106* | not provided, Syndromic X-linked intellectual disability Najm type | Pathogenic
(Sep 12, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:41394199
- GRCh38:
- ChrX:41534946
| CASK | Y728C, Y723C, Y700C, Y699C, Y722C | Syndromic X-linked intellectual disability Najm type | Likely pathogenic
(Feb 2, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41448815
- GRCh38:
- ChrX:41589562
| CASK | P396S, P390S | Inborn genetic diseases, not provided, Syndromic X-linked intellectual disability Najm type,
Intellectual disability, CASK-related, X-linked | Conflicting interpretations of pathogenicity
(Oct 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:41401970
- GRCh38:
- ChrX:41542717
| CASK | D710G, D681G, D687G, D704G | Syndromic X-linked intellectual disability Najm type, FG syndrome 4 | Likely pathogenic
(Mar 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41495831
- GRCh38:
- ChrX:41636578
| CASK | | Syndromic X-linked intellectual disability Najm type | Pathogenic
(Sep 1, 2008) | no assertion criteria provided |
| - GRCh37:
- ChrX:41413096
- GRCh38:
- ChrX:41553843
| CASK | R639*, R610*, R616*, R633* | not provided, Syndromic X-linked intellectual disability Najm type | Pathogenic
(Dec 17, 2022) | criteria provided, multiple submitters, no conflicts |