| - GRCh37:
- Chr17:4802660
- GRCh38:
- Chr17:4899365
| CHRNE | P351R | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
| Likely pathogenic
(Aug 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:4802762
- GRCh38:
- Chr17:4899467
| CHRNE | | Congenital myasthenic syndrome 4C | Pathogenic
(Mar 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:4802052
- GRCh38:
- Chr17:4898757
| CHRNE | Y487* | Congenital myasthenic syndrome 4C | Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:4804088
- GRCh38:
- Chr17:4900793
| C17orf107, CHRNE | R306M | Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C,
Congenital myasthenic syndrome 4A, not provided | Uncertain significance
(Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4804158
- GRCh38:
- Chr17:4900863
| CHRNE, C17orf107 | Q283* | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
Congenital myasthenic syndrome 4A | Pathogenic/Likely pathogenic
(Feb 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802597
- GRCh38:
- Chr17:4899302
| CHRNE | A372V | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
Congenital myasthenic syndrome 4A | Uncertain significance
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:69555418
- GRCh38:
- Chr2:69328286
| GFPT1 | | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
| Conflicting interpretations of pathogenicity
(Sep 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:4802084
- GRCh38:
- Chr17:4898789
| CHRNE | A477fs | Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C,
not provided | Pathogenic/Likely pathogenic
(Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:65557831
- GRCh38:
- Chr7:66092844
| ASL | T417fs, T423fs, T443fs | Congenital myasthenic syndrome 4C | Pathogenic
(Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:4804852
- GRCh38:
- Chr17:4901557
| CHRNE, C17orf107 | N190S | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C,
Congenital myasthenic syndrome 4B | Uncertain significance
(Aug 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802777
- GRCh38:
- Chr17:4899482
| CHRNE | P340S | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
Congenital myasthenic syndrome 4A | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802367-4802368
- GRCh38:
- Chr17:4899072-4899073
| CHRNE | E419fs | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
Congenital myasthenic syndrome 4A | Pathogenic/Likely pathogenic
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4805288
- GRCh38:
- Chr17:4901993
| C17orf107, CHRNE | V147I | Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C,
Congenital myasthenic syndrome 4B | Uncertain significance
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7360817
- GRCh38:
- Chr17:7457498
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360807
- GRCh38:
- Chr17:7457488
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360743
- GRCh38:
- Chr17:7457424
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360554
- GRCh38:
- Chr17:7457235
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360445
- GRCh38:
- Chr17:7457126
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360411
- GRCh38:
- Chr17:7457092
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360385
- GRCh38:
- Chr17:7457066
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360329
- GRCh38:
- Chr17:7457010
| CHRNB1 | | Congenital myasthenic syndrome 4C | Benign
(Jan 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7352041
- GRCh38:
- Chr17:7448722
| CHRNB1 | V252I | Inborn genetic diseases, Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C
| Conflicting interpretations of pathogenicity
(Jan 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7360162
- GRCh38:
- Chr17:7456843
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360121
- GRCh38:
- Chr17:7456802
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Apr 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7350840
- GRCh38:
- Chr17:7447521
| CHRNB1 | D161N | Congenital myasthenic syndrome 4C, not provided | Uncertain significance
(Jun 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7349446
- GRCh38:
- Chr17:7446127
| CHRNB1 | | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7349425
- GRCh38:
- Chr17:7446106
| CHRNB1 | L79S | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7348743
- GRCh38:
- Chr17:7445424
| CHRNB1 | | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Conflicting interpretations of pathogenicity
(Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7359243
- GRCh38:
- Chr17:7455924
| CHRNB1 | Q450K | Congenital myasthenic syndrome 4C | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7359163
- GRCh38:
- Chr17:7455844
| CHRNB1 | P423Q | Congenital myasthenic syndrome 2A, not provided, Congenital myasthenic syndrome 4C,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7351956
- GRCh38:
- Chr17:7448637
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:50863221
- GRCh38:
- Chr10:49655175
| CHAT | S490*, S454*, S572* | Congenital myasthenic syndrome 4C | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr10:50835698
- GRCh38:
- Chr10:49627652
| CHAT | D246fs, D328fs, D210fs | Congenital myasthenic syndrome 4C | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr17:7348485
- GRCh38:
- Chr17:7445166
| CHRNB1 | | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Conflicting interpretations of pathogenicity
(Jun 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7359930
- GRCh38:
- Chr17:7456611
| CHRNB1 | M465T | See cases, Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C
| Conflicting interpretations of pathogenicity
(Jun 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7359960
- GRCh38:
- Chr17:7456641
| CHRNB1 | F475S | Congenital myasthenic syndrome 2A, not provided, Congenital myasthenic syndrome 4C
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:4802354-4802355
- GRCh38:
- Chr17:4899059-4899060
| CHRNE | C423fs | Congenital myasthenic syndrome 4A, Abnormality of the musculature | Pathogenic/Likely pathogenic
(Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4806249
- GRCh38:
- Chr17:4902954
| C17orf107, CHRNE | | not provided, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C,
Congenital myasthenic syndrome 4B | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4805623
- GRCh38:
- Chr17:4902328
| C17orf107, CHRNE | | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A,
Congenital myasthenic syndrome 4A | Likely pathogenic
(May 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4804488-4804489
- GRCh38:
- Chr17:4901193-4901194
| C17orf107, CHRNE | | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
Congenital myasthenic syndrome 4A | Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7350961-7350962
- GRCh38:
- Chr17:7447642-7447643
| CHRNB1 | I203fs | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A | Conflicting interpretations of pathogenicity
(Apr 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:4802613-4802631
- GRCh38:
- Chr17:4899318-4899336
| CHRNE | E361fs | Congenital myasthenic syndrome 4C | Pathogenic
(Dec 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7358784
- GRCh38:
- Chr17:7455465
| CHRNB1 | | Congenital myasthenic syndrome 2A, not specified, Congenital myasthenic syndrome 4C
| Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4804109
- GRCh38:
- Chr17:4900814
| C17orf107, CHRNE | L299P | not provided, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome,
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4C,
Inborn genetic diseases | Uncertain significance
(Mar 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7350248
- GRCh38:
- Chr17:7446929
| CHRNB1 | V114M | Congenital myasthenic syndrome 2A, Inborn genetic diseases, not provided,
Congenital myasthenic syndrome 4C | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4806333
- GRCh38:
- Chr17:4903038
| C17orf107, CHRNE | L9R | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
Congenital myasthenic syndrome 4A | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7348499
- GRCh38:
- Chr17:7445180
| CHRNB1 | A18G | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Uncertain significance
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4804377
- GRCh38:
- Chr17:4901082
| C17orf107, CHRNE | R237H | Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B,
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A, Inborn genetic diseases,
not provided | Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7350923
- GRCh38:
- Chr17:7447604
| CHRNB1 | | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Conflicting interpretations of pathogenicity
(Sep 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:69581446
- GRCh38:
- Chr2:69354314
| GFPT1 | | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 12,
GFPT1-related myasthenic syndrome, Abnormality of the musculature | Pathogenic
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4804840
- GRCh38:
- Chr17:4901545
| C17orf107, CHRNE | I194T | not specified, not provided, Inborn genetic diseases,
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C,
Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome | Uncertain significance
(Jun 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4805563
- GRCh38:
- Chr17:4902268
| C17orf107, CHRNE | L98P | Congenital myasthenic syndrome 4A, not provided, Congenital myasthenic syndrome 4C
| Conflicting interpretations of pathogenicity
(Mar 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7348697
- GRCh38:
- Chr17:7445378
| CHRNB1 | V56A | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4805987
- GRCh38:
- Chr17:4902692
| C17orf107, CHRNE | R40W | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
Congenital myasthenic syndrome 4A, not provided | Uncertain significance
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802295
- GRCh38:
- Chr17:4899000
| CHRNE | | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A | Pathogenic/Likely pathogenic
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7350875
- GRCh38:
- Chr17:7447556
| CHRNB1 | Y172* | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7359254
- GRCh38:
- Chr17:7455935
| CHRNB1 | | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802524-4802525
- GRCh38:
- Chr17:4899229-4899230
| CHRNE | | Congenital myasthenic syndrome 4A, not provided, Congenital myasthenic syndrome 4C
| Pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802632-4802633
- GRCh38:
- Chr17:4899337-4899338
| CHRNE | | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
not provided, Congenital myasthenic syndrome 4A | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802859-4802861
- GRCh38:
- Chr17:4899564-4899566
| CHRNE, C17orf107 | M312del | Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C,
Congenital myasthenic syndrome 4A, not provided | Pathogenic/Likely pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| | | | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 4C | Likely pathogenic
(Nov 19, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr2:69601212
- GRCh38:
- Chr2:69374080
| GFPT1 | R14Q | Congenital myasthenic syndrome 4C, not provided | Pathogenic/Likely pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4804293
- GRCh38:
- Chr17:4900998
| C17orf107, CHRNE | P265L | not provided, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A,
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B | Pathogenic/Likely pathogenic
(Jan 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7360885
- GRCh38:
- Chr17:7457566
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360820
- GRCh38:
- Chr17:7457501
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360797
- GRCh38:
- Chr17:7457478
| CHRNB1 | | Congenital myasthenic syndrome 4C | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360791
- GRCh38:
- Chr17:7457472
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360475
- GRCh38:
- Chr17:7457156
| CHRNB1 | | Congenital myasthenic syndrome 4C | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360323
- GRCh38:
- Chr17:7457004
| CHRNB1 | | Congenital myasthenic syndrome 4C, not provided | Benign
(Jun 28, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7360178
- GRCh38:
- Chr17:7456859
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360113
- GRCh38:
- Chr17:7456794
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7360110
- GRCh38:
- Chr17:7456791
| CHRNB1 | | Congenital myasthenic syndrome 4C, not provided | Benign
(Jun 19, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7360073
- GRCh38:
- Chr17:7456754
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7359120
- GRCh38:
- Chr17:7455801
| CHRNB1 | P409A | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C, not specified
| Conflicting interpretations of pathogenicity
(Oct 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7359110
- GRCh38:
- Chr17:7455791
| CHRNB1 | | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Uncertain significance
(May 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7358704
- GRCh38:
- Chr17:7455385
| CHRNB1 | | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7358645
- GRCh38:
- Chr17:7455326
| CHRNB1 | P363T | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7357848
- GRCh38:
- Chr17:7454529
| CHRNB1 | | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7357790
- GRCh38:
- Chr17:7454471
| CHRNB1 | L332R | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Uncertain significance
(Feb 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7357698
- GRCh38:
- Chr17:7454379
| CHRNB1 | | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7351967
- GRCh38:
- Chr17:7448648
| CHRNB1 | G227E | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7350924
- GRCh38:
- Chr17:7447605
| CHRNB1 | G189R | Congenital myasthenic syndrome 2A, Inborn genetic diseases, not provided,
Congenital myasthenic syndrome 4C | Conflicting interpretations of pathogenicity
(Jun 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7350890
- GRCh38:
- Chr17:7447571
| CHRNB1 | | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Conflicting interpretations of pathogenicity
(Jul 21, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7350359
- GRCh38:
- Chr17:7447040
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7350213
- GRCh38:
- Chr17:7446894
| CHRNB1 | R102P | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C | Conflicting interpretations of pathogenicity
(May 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7350186
- GRCh38:
- Chr17:7446867
| CHRNB1 | A93G | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7348434
- GRCh38:
- Chr17:7445115
| CHRNB1 | | Congenital myasthenic syndrome 4C, not specified | Likely benign
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7348428
- GRCh38:
- Chr17:7445109
| CHRNB1 | | Congenital myasthenic syndrome 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:4804915
- GRCh38:
- Chr17:4901620
| C17orf107, CHRNE | Q169L | Congenital myasthenic syndrome 4B, Inborn genetic diseases, not provided,
Congenital myasthenic syndrome, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:4801970
- GRCh38:
- Chr17:4898675
| CHRNE | | Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome, Congenital myasthenic syndrome 4C,
Congenital myasthenic syndrome 4A | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4801966
- GRCh38:
- Chr17:4898671
| CHRNE | | Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome, not provided,
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802670
- GRCh38:
- Chr17:4899375
| CHRNE | E348K | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
not provided, Congenital myasthenic syndrome 4A | Uncertain significance
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4806002
- GRCh38:
- Chr17:4902707
| C17orf107, CHRNE | Y35H | Congenital myasthenic syndrome 4A, Tip-toe gait, Congenital myasthenic syndrome 4B,
Congenital myasthenic syndrome, Congenital myasthenic syndrome 4C, not specified,
not provided | Conflicting interpretations of pathogenicity
(Apr 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7352007
- GRCh38:
- Chr17:7448688
| CHRNB1 | | Congenital myasthenic syndrome 2A, not specified, Congenital myasthenic syndrome 4C
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7360060
- GRCh38:
- Chr17:7456741
| CHRNB1 | | not specified, not provided, Congenital myasthenic syndrome 4C
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:4804073
- GRCh38:
- Chr17:4900778
| C17orf107, CHRNE | | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B, not specified,
Congenital myasthenic syndrome, Congenital myasthenic syndrome 4C | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802447
- GRCh38:
- Chr17:4899152
| CHRNE | | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B, not specified,
not provided, Congenital myasthenic syndrome 4C | Benign/Likely benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802159-4802160
- GRCh38:
- Chr17:4898864-4898865
| CHRNE | N452fs | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4C,
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
not provided | Pathogenic
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4802186
- GRCh38:
- Chr17:4898891
| CHRNE | | Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C,
Congenital myasthenic syndrome 4B, not provided, Congenital myasthenic syndrome 4A,
Congenital myasthenic syndrome 4C | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:4805974-4805975
- GRCh38:
- Chr17:4902679-4902680
| CHRNE, C17orf107 | E44fs | Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A, Myasthenic syndrome, slow-channel congenital,
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B,
not provided, Abnormality of the musculature | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |