| - GRCh37:
- Chr9:134388634-134388635
- GRCh38:
- Chr9:131513247-131513248
| POMT1 | V213fs, V235fs, V248fs, V270fs, V311fs, V333fs, V335fs, V361fs, V365fs, V387fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:134394275
- GRCh38:
- Chr9:131518888
| POMT1 | G321R, G343R, G356R, G378R, G419R, G441R, G443R, G469R, G473R, G495R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:134386855
- GRCh38:
- Chr9:131511468
| POMT1 | V324I | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Pathogenic/Likely pathogenic
(May 4, 2022) | 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:
- Chr19:47259265
- GRCh38:
- Chr19:46756008
| FKRP | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy type B5,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy | Likely benign
(Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259830
- GRCh38:
- Chr19:46756573
| FKRP | C375S | Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259400
- GRCh38:
- Chr19:46756143
| FKRP | W231C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134387515
- GRCh38:
- Chr9:131512128
| POMT1 | D326E, D206E, D328E, D380E, D228E, D241E, D263E, D304E, D358E, D354E | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1,
Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259666
- GRCh38:
- Chr19:46756409
| FKRP | R320H | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I | Uncertain significance
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134398411
- GRCh38:
- Chr9:131523024
| POMT1 | Y604C, Y669C, Y569C, Y626C, Y667C, Y699C, Y547C, Y582C, Y645C, Y695C, Y721C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
| Uncertain significance
(Sep 27, 2022) | 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:
- Chr19:47259768
- GRCh38:
- Chr19:46756511
| FKRP | G354E | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype
| Uncertain significance
(Aug 21, 2022) | 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:
- Chr19:47259635
- GRCh38:
- Chr19:46756378
| FKRP | E310Q | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Jul 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259248
- GRCh38:
- Chr19:46755991
| FKRP | R181C | Cardiovascular phenotype, not provided, Walker-Warburg congenital muscular dystrophy,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | Uncertain significance
(Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:77786907
- GRCh38:
- Chr14:77320564
| POMT2 | R40G | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259141
- GRCh38:
- Chr19:46755884
| FKRP | V145G | Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy, Inborn genetic diseases
| Uncertain significance
(Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259542
- GRCh38:
- Chr19:46756285
| FKRP | W279R | Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259588
- GRCh38:
- Chr19:46756331
| FKRP | T294K | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, not provided
| Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134388721
- GRCh38:
- Chr9:131513334
| POMT1 | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Pathogenic
(Apr 29, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr14:77745168
- GRCh38:
- Chr14:77278825
| POMT2 | G646S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2,
Autosomal recessive limb-girdle muscular dystrophy type 2N, not provided | Uncertain significance
(Jul 6, 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:
- Chr19:47259899
- GRCh38:
- Chr19:46756642
| FKRP | V398I | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Cardiovascular phenotype
| Uncertain significance
(Apr 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259824
- GRCh38:
- Chr19:46756567
| FKRP | G373S | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134385135
- GRCh38:
- Chr9:131509748
| POMT1 | F182C, F128C, F30C, F65C, F152C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Uncertain significance
(Jan 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:134394817
- GRCh38:
- Chr9:131519430
| POMT1 | A478T, A380T, A456T, A532T, A393T, A415T, A358T, A480T, A506T, A510T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Uncertain significance
(Jan 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47259600
- GRCh38:
- Chr19:46756343
| FKRP | G298A | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype
| Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259323
- GRCh38:
- Chr19:46756066
| FKRP | D206N | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I | Uncertain significance
(Sep 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47260189
- GRCh38:
- Chr19:46756932
| FKRP | S494R | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258912
- GRCh38:
- Chr19:46755655
| FKRP | S69P | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Cardiovascular phenotype | Uncertain significance
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134382902-134382903
- GRCh38:
- Chr9:131507515-131507516
| POMT1 | | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Pathogenic/Likely pathogenic
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:49570138
- GRCh38:
- Chr3:49532705
| DAG1 | P732T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259902
- GRCh38:
- Chr19:46756645
| FKRP | E399K | Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, not provided, Walker-Warburg congenital muscular dystrophy
| Uncertain significance
(Oct 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259978
- GRCh38:
- Chr19:46756721
| FKRP | N424S | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I
| Uncertain significance
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259340
- GRCh38:
- Chr19:46756083
| FKRP | | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47260134
- GRCh38:
- Chr19:46756877
| FKRP | G476E | Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, not provided,
Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134385630
- GRCh38:
- Chr9:131510243
| POMT1 | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Uncertain significance
(Oct 22, 2018) | criteria provided, single submitter |
| - 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:
- Chr9:108401061
- 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:
- Chr9:108398720
- 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:
- Chr9:134394275
- GRCh38:
- Chr9:131518888
| POMT1 | G495R, G321R, G419R, G343R, G469R, G356R, G378R, G441R, G443R, G473R | not provided, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1,
Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1,
Autosomal recessive limb-girdle muscular dystrophy type 2K, Autosomal recessive limb-girdle muscular dystrophy type 2K | Uncertain significance
(May 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr9:108366525-108366533
- GRCh38:
- Chr9:105604244-105604252
| FKTN | | Walker-Warburg congenital muscular dystrophy, 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 A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
| Uncertain significance
(Nov 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259470
- GRCh38:
- Chr19:46756213
| FKRP | W255R | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype
| Uncertain significance
(May 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259545
- GRCh38:
- Chr19:46756288
| FKRP | E280K | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Oct 25, 2022) | 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:
- Chr19:47259706-47259707
- GRCh38:
- Chr19:46756449-46756450
| FKRP | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, not provided, Walker-Warburg congenital muscular dystrophy
| Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134388719-134388722
- GRCh38:
- Chr9:131513332-131513335
| POMT1 | | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Conflicting interpretations of pathogenicity
(Aug 31, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47258875
- GRCh38:
- Chr19:46755618
| FKRP | | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Cardiovascular phenotype
| Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134381841
- GRCh38:
- Chr9:131506454
| POMT1 | | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy,
not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Pathogenic
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259650
- GRCh38:
- Chr19:46756393
| FKRP | C317fs | not provided, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | Pathogenic
(Feb 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:77753145
- GRCh38:
- Chr14:77286802
| POMT2 | S425T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2,
Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2,
Autosomal recessive limb-girdle muscular dystrophy type 2N, Autosomal recessive limb-girdle muscular dystrophy type 2N, Inborn genetic diseases,
not provided | Uncertain significance
(Dec 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258775
- GRCh38:
- Chr19:46755518
| FKRP | Y23C | Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy
| Uncertain significance
(Mar 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259640
- GRCh38:
- Chr19:46756383
| FKRP | E311D | Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108397420-108397445
- GRCh38:
- Chr9:105635139-105635164
| FKTN | A289fs, A398fs, A421fs | FKTN-related condition, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype,
Autosomal recessive limb-girdle muscular dystrophy type 2M, 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 without intellectual disability), type B4, Dilated cardiomyopathy 1X | Conflicting interpretations of pathogenicity
(Jun 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47260003
- GRCh38:
- Chr19:46756746
| FKRP | W432* | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I | Likely pathogenic
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259023
- GRCh38:
- Chr19:46755766
| FKRP | P106S | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr19:47259258
- GRCh38:
- Chr19:46756001
| FKRP | A184V | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I
| Uncertain significance
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134398456-134398457
- GRCh38:
- Chr9:131523069-131523070
| POMT1 | D599fs, D738fs, D684fs, D716fs, D564fs, D621fs, D662fs, D712fs, D586fs, D643fs, D686fs | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Pathogenic
(May 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47259843
- GRCh38:
- Chr19:46756586
| FKRP | R379Q | Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy,
not provided | Uncertain significance
(Oct 13, 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:
- Chr9:134390832-134390833
- GRCh38:
- Chr9:131515445-131515446
| POMT1 | L282fs, L421fs, L304fs, L367fs, L369fs, L247fs, L345fs, L399fs, L269fs, L395fs | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
not provided, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1,
Autosomal recessive limb-girdle muscular dystrophy type 2K | Pathogenic
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:77753119
- GRCh38:
- Chr14:77286776
| POMT2 | R434W | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N,
not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2,
Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:33712109
- GRCh38:
- Chr22:33316123
| LARGE1 | S471R, S218R, S270R, S419R | not provided, Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259558
- GRCh38:
- Chr19:46756301
| FKRP | L284P | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5 | Uncertain significance
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47260070
- GRCh38:
- Chr19:46756813
| FKRP | A455S | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy type B5 | Conflicting interpretations of pathogenicity
(Apr 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259413
- GRCh38:
- Chr19:46756156
| FKRP | L236V | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259485
- GRCh38:
- Chr19:46756228
| FKRP | E260* | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2I
| Pathogenic/Likely pathogenic
(Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258981-47258982
- GRCh38:
- Chr19:46755724-46755725
| FKRP | | Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2I | Uncertain significance
(Jul 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259908
- GRCh38:
- Chr19:46756651
| FKRP | D401N | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2I
| Uncertain significance
(Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258973
- GRCh38:
- Chr19:46755716
| FKRP | P89L | Walker-Warburg congenital muscular dystrophy, not provided, Muscular dystrophy-dystroglycanopathy type B5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Autosomal recessive limb-girdle muscular dystrophy type 2I | Pathogenic/Likely pathogenic
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259635
- GRCh38:
- Chr19:46756378
| FKRP | E310* | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy, not provided,
Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2I
| Pathogenic/Likely pathogenic
(Mar 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259248
- GRCh38:
- Chr19:46755991
| FKRP | R181S | Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype,
not provided | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134387431
- GRCh38:
- Chr9:131512044
| POMT1 | Y352*, Y330*, Y213*, Y178*, Y276*, Y298*, Y235*, Y300*, Y326*, Y200* | not provided, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Pathogenic
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259269
- GRCh38:
- Chr19:46756012
| FKRP | A188T | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
not provided | Uncertain significance
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:77765865
- GRCh38:
- Chr14:77299522
| POMT2 | L286F | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N | Uncertain significance
(Feb 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108397496
- GRCh38:
- Chr9:105635215
| FKTN | N446S, N314S, N423S | Cardiovascular phenotype, 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, not provided | Uncertain significance
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134395480
- GRCh38:
- Chr9:131520093
| POMT1 | A555V, A416V, A501V, A533V, A381V, A503V, A438V, A479V, A403V, A529V, A460V | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy,
Myopathy caused by variation in POMT1, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2K,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:77786796
- GRCh38:
- Chr14:77320453
| POMT2 | D77N | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N,
not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2,
Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr9:134386744
- GRCh38:
- Chr9:131511357
| POMT1 | | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134387488
- GRCh38:
- Chr9:131512101
| POMT1 | | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47260146
- GRCh38:
- Chr19:46756889
| FKRP | N480I | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype,
Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258829
- GRCh38:
- Chr19:46755572
| FKRP | R41L | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259726
- GRCh38:
- Chr19:46756469
| FKRP | Y340F | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
| Uncertain significance
(May 15, 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:
- Chr19:47259977
- GRCh38:
- Chr19:46756720
| FKRP | N424H | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype,
Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, not provided
| Uncertain significance
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:77746187
- GRCh38:
- Chr14:77279844
| POMT2 | R624W | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2,
Autosomal recessive limb-girdle muscular dystrophy type 2N, not provided | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134385361
- GRCh38:
- Chr9:131509974
| POMT1 | L226P, L109P, L196P, L74P, L172P | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, not provided | Uncertain significance
(Dec 1, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134385671
- GRCh38:
- Chr9:131510284
| POMT1 | A264T, A125T, A210T, A212T, A242T, A90T, A188T, A147T, A112T, R236H | not specified, Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, not provided | Uncertain significance
(Jun 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259270
- GRCh38:
- Chr19:46756013
| FKRP | A188V | Cardiovascular phenotype, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
not specified, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2N | Likely pathogenic
(Dec 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47259035
- GRCh38:
- Chr19:46755778
| FKRP | R110W | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
not provided | Uncertain significance
(Mar 30, 2023) | criteria provided, multiple submitters, no conflicts |