| - GRCh37:
- Chr9:108366632
- GRCh38:
- Chr9:105604351
| FKTN | H37R, H146R, H169R | Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Cardiovascular phenotype | Uncertain significance (Mar 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108397458
- GRCh38:
- Chr9:105635177
| FKTN | | Cardiovascular phenotype, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Walker-Warburg congenital muscular dystrophy | Likely benign (Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108380390
- GRCh38:
- Chr9:105618109
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy
| Likely benign (Nov 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108363448
- GRCh38:
- Chr9:105601167
| FKTN | M40T, M63T | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy | Uncertain significance (May 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108397442
- GRCh38:
- Chr9:105635161
| FKTN | K296R, K405R, K428R | Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy | Uncertain significance (Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108363499
- GRCh38:
- Chr9:105601218
| FKTN | L57P, L80P | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy | Uncertain significance (Sep 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108366656
- GRCh38:
- Chr9:105604375
| FKTN | H177R, H154R, H45R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy
| Uncertain significance (Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108377566
- GRCh38:
- Chr9:105615285
| FKTN | L263R, L131R, L240R | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy
| Uncertain significance (Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108397470
- GRCh38:
- Chr9:105635189
| FKTN | | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
| Likely benign (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108360365
- GRCh38:
- Chr9:105598084
| FKTN | | Dilated cardiomyopathy 1X | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr9:108398007
- GRCh38:
- Chr9:105635726
| FKTN | | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108397711
- GRCh38:
- Chr9:105635430
| FKTN | | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108370157
- GRCh38:
- Chr9:105607876
| FKTN | | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
| Conflicting interpretations of pathogenicity (Aug 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108401323
- GRCh38:
- Chr9:105639042
| FKTN | | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
| Conflicting interpretations of pathogenicity (May 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108400137
- GRCh38:
- Chr9:105637856
| FKTN | | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Uncertain significance (Sep 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108402453
- GRCh38:
- Chr9:105640172
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108401061
- GRCh38:
- Chr9:105638780
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108401005
- GRCh38:
- Chr9:105638724
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400897
- GRCh38:
- Chr9:105638616
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400009
- GRCh38:
- Chr9:105637728
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108399972
- GRCh38:
- Chr9:105637691
| FKTN | | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
| Conflicting interpretations of pathogenicity (Sep 16, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108398774
- GRCh38:
- Chr9:105636493
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108398720
- GRCh38:
- Chr9:105636439
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Uncertain significance (Oct 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108397645
- GRCh38:
- Chr9:105635364
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108397624
- GRCh38:
- Chr9:105635343
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108397616
- GRCh38:
- Chr9:105635335
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108370116
- GRCh38:
- Chr9:105607835
| FKTN | V199I, V222I, V90I | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X | Uncertain significance (Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108336002
- GRCh38:
- Chr9:105573721
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108402371
- GRCh38:
- Chr9:105640090
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108402250
- GRCh38:
- Chr9:105639969
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108402191
- GRCh38:
- Chr9:105639910
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400857
- GRCh38:
- Chr9:105638576
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108399843
- GRCh38:
- Chr9:105637562
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Dilated cardiomyopathy 1X
| Conflicting interpretations of pathogenicity (May 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108399799
- GRCh38:
- Chr9:105637518
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108398555
- GRCh38:
- Chr9:105636274
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108402046
- GRCh38:
- Chr9:105639765
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108402036
- GRCh38:
- Chr9:105639755
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108401530
- GRCh38:
- Chr9:105639249
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400447
- GRCh38:
- Chr9:105638166
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400219
- GRCh38:
- Chr9:105637938
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400185
- GRCh38:
- Chr9:105637904
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108399758
- GRCh38:
- Chr9:105637477
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108399388
- GRCh38:
- Chr9:105637107
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Conflicting interpretations of pathogenicity (Apr 27, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108399183
- GRCh38:
- Chr9:105636902
| FKTN | | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
| Conflicting interpretations of pathogenicity (Aug 26, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108398351
- GRCh38:
- Chr9:105636070
| FKTN | | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
| Conflicting interpretations of pathogenicity (May 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108398322
- GRCh38:
- Chr9:105636041
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108398305
- GRCh38:
- Chr9:105636024
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108398257
- GRCh38:
- Chr9:105635976
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108377695
- GRCh38:
- Chr9:105615414
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108337275
- GRCh38:
- Chr9:105574994
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108370163
- GRCh38:
- Chr9:105607882
| FKTN | H214Q, H237Q, H105Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Walker-Warburg congenital muscular dystrophy
| Uncertain significance (Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108382272
- GRCh38:
- Chr9:105619991
| FKTN | F345L, F236L, F368L | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype | Uncertain significance (May 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108397516
- GRCh38:
- Chr9:105635235
| FKTN | E430K, E321K, E453K | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | Uncertain significance (Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108370218
- GRCh38:
- Chr9:105607937
| FKTN | R233*, R124*, R256* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Walker-Warburg congenital muscular dystrophy
| Pathogenic/Likely pathogenic (May 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108363467
- GRCh38:
- Chr9:105601186
| FKTN | | Walker-Warburg congenital muscular dystrophy, not specified, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Conflicting interpretations of pathogenicity (Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108397420-108397445
- GRCh38:
- Chr9:105635139-105635164
| FKTN | A289fs, A398fs, A421fs | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M | Conflicting interpretations of pathogenicity (Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108358913
- GRCh38:
- Chr9:105596632
| FKTN | R47Q | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, not provided, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy | Uncertain significance (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108397538-108397539
- GRCh38:
- Chr9:105635257-105635258
| FKTN | Y329fs, Y438fs, Y461fs | Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, not provided, Walker-Warburg congenital muscular dystrophy | Uncertain significance (Jan 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108366571
- GRCh38:
- Chr9:105604290
| FKTN | G149R, G126R, G17R | Walker-Warburg congenital muscular dystrophy, not provided, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Uncertain significance (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108368857
- GRCh38:
- Chr9:105606576
| FKTN | | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Pathogenic/Likely pathogenic (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108366685
- GRCh38:
- Chr9:105604404
| FKTN | G187S, G55S, G164S | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Walker-Warburg congenital muscular dystrophy, not provided | Uncertain significance (Jan 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108397496
- GRCh38:
- Chr9:105635215
| FKTN | N446I, N423I, N314I | Cardiovascular phenotype, not provided, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Conflicting interpretations of pathogenicity (Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108337320
- GRCh38:
- Chr9:105575039
| FKTN | R3G | Inborn genetic diseases, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Walker-Warburg congenital muscular dystrophy | Uncertain significance (Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108370218
- GRCh38:
- Chr9:105607937
| FKTN | | Cardiovascular phenotype, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, not provided
| Conflicting interpretations of pathogenicity (Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108380227
- GRCh38:
- Chr9:105617946
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy, not provided, Dilated cardiomyopathy 1X, not specified | Conflicting interpretations of pathogenicity (Aug 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108403362
- GRCh38:
- Chr9:105641081
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108403163
- GRCh38:
- Chr9:105640882
| FKTN | | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
| Benign/Likely benign (May 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108403123
- GRCh38:
- Chr9:105640842
| FKTN | | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided
| Conflicting interpretations of pathogenicity (Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108403062
- GRCh38:
- Chr9:105640781
| FKTN | | not provided, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
| Conflicting interpretations of pathogenicity (May 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108402901
- GRCh38:
- Chr9:105640620
| FKTN | | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108402805
- GRCh38:
- Chr9:105640524
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Benign/Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108402706
- GRCh38:
- Chr9:105640425
| FKTN | | Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Feb 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108402607
- GRCh38:
- Chr9:105640326
| FKTN | | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
| Benign/Likely benign (Jun 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108402586
- GRCh38:
- Chr9:105640305
| FKTN | | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
| Benign/Likely benign (Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108402548
- GRCh38:
- Chr9:105640267
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X | Uncertain significance (Oct 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108402485
- GRCh38:
- Chr9:105640204
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108402370
- GRCh38:
- Chr9:105640089
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Dilated cardiomyopathy 1X, not specified | Conflicting interpretations of pathogenicity (Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108402144
- GRCh38:
- Chr9:105639863
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108401463
- GRCh38:
- Chr9:105639182
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108401406
- GRCh38:
- Chr9:105639125
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Dilated cardiomyopathy 1X
| Conflicting interpretations of pathogenicity (Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108401092
- GRCh38:
- Chr9:105638811
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X | Uncertain significance (Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108400922
- GRCh38:
- Chr9:105638641
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400701
- GRCh38:
- Chr9:105638420
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400591
- GRCh38:
- Chr9:105638310
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400529
- GRCh38:
- Chr9:105638248
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400455
- GRCh38:
- Chr9:105638174
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108400449
- GRCh38:
- Chr9:105638168
| FKTN | | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400061
- GRCh38:
- Chr9:105637780
| FKTN | | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108400053
- GRCh38:
- Chr9:105637772
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108400050
- GRCh38:
- Chr9:105637769
| FKTN | | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108399978
- GRCh38:
- Chr9:105637697
| FKTN | | Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108399810
- GRCh38:
- Chr9:105637529
| FKTN | | Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108399390
- GRCh38:
- Chr9:105637109
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108399226
- GRCh38:
- Chr9:105636945
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108399056
- GRCh38:
- Chr9:105636775
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108398821
- GRCh38:
- Chr9:105636540
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:108398794
- GRCh38:
- Chr9:105636513
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108398678
- GRCh38:
- Chr9:105636397
| FKTN | | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
| Benign/Likely benign (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108398563
- GRCh38:
- Chr9:105636282
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:108398562
- GRCh38:
- Chr9:105636281
| FKTN | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |