| - GRCh37:
- Chr19:47258717
- GRCh38:
- Chr19:46755460
| FKRP | T4A | 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
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47259641
- GRCh38:
- Chr19:46756384
| FKRP | R312G | Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Jun 20, 2022) | 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:
- 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:
- 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:
- 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, Walker-Warburg congenital muscular dystrophy, 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, Autosomal recessive limb-girdle muscular dystrophy type 2I
| Uncertain significance
(Dec 23, 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:
- Chr19:47259210
- GRCh38:
- Chr19:46755953
| FKRP | C168Y | Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
| Likely pathogenic | criteria provided, single submitter |
| - 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:
- Chr19:47259356
- GRCh38:
- Chr19:46756099
| FKRP | P217T | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5 | Uncertain significance
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259561
- GRCh38:
- Chr19:46756304
| FKRP | E285A | 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 | Uncertain significance
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258826
- GRCh38:
- Chr19:46755569
| FKRP | R40H | 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 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258989
- GRCh38:
- Chr19:46755732
| FKRP | | 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 | Conflicting interpretations of pathogenicity
(Jul 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259899
- GRCh38:
- Chr19:46756642
| FKRP | V398I | 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, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
| 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:
- 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 | 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,
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:
- 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:
- Chr19:47260073
- GRCh38:
- Chr19:46756816
| FKRP | G456S | Muscular dystrophy-dystroglycanopathy type B5 | Uncertain significance
(Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47259669
- GRCh38:
- Chr19:46756412
| FKRP | A321E | Muscular dystrophy-dystroglycanopathy type B5, Walker-Warburg congenital muscular dystrophy | Conflicting interpretations of pathogenicity
(Apr 29, 2022) | criteria provided, conflicting interpretations |
| - 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:
- 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:
- 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:
- Chr19:47258716
- GRCh38:
- Chr19:46755459
| FKRP | | 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, Cardiovascular phenotype | Likely benign
(Oct 3, 2022) | 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- Chr19:47259675
- GRCh38:
- Chr19:46756418
| FKRP | R323H | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy type B5
| Conflicting interpretations of pathogenicity
(Aug 29, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr19:47259269
- GRCh38:
- Chr19:46756012
| FKRP | A188T | 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 A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
not provided | Uncertain significance
(Jan 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258835
- GRCh38:
- Chr19:46755578
| FKRP | S43C | Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Primary dilated cardiomyopathy,
Muscular dystrophy-dystroglycanopathy type B5 | Uncertain significance
(Aug 1, 2017) | criteria provided, single submitter |
| - 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:
- Chr19:47259977
- GRCh38:
- Chr19:46756720
| FKRP | N424H | not provided, 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, Walker-Warburg congenital muscular dystrophy,
Muscular dystrophy-dystroglycanopathy type B5, Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
| Uncertain significance
(Oct 17, 2022) | 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 |
| - 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 |
| - GRCh37:
- Chr19:47259535
- GRCh38:
- Chr19:46756278
| FKRP | | Cardiovascular phenotype, not specified, 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 | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47260059
- GRCh38:
- Chr19:46756802
| FKRP | P451L | Cardiovascular phenotype, 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, not provided,
Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258718
- GRCh38:
- Chr19:46755461
| FKRP | T4S | 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, not specified, Walker-Warburg congenital muscular dystrophy,
not provided, Cardiovascular phenotype | Uncertain significance
(Nov 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259611
- GRCh38:
- Chr19:46756354
| FKRP | G302S | 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, Walker-Warburg congenital muscular dystrophy, not provided,
Cardiovascular phenotype | Conflicting interpretations of pathogenicity
(May 18, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259163
- GRCh38:
- Chr19:46755906
| FKRP | S152R | 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, 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, not provided ...see more | Conflicting interpretations of pathogenicity
(Feb 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259320
- GRCh38:
- Chr19:46756063
| FKRP | R205G | 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, Walker-Warburg congenital muscular dystrophy, not provided,
Cardiovascular phenotype | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259710
- GRCh38:
- Chr19:46756453
| FKRP | A335T | 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, Walker-Warburg congenital muscular dystrophy, not provided,
Cardiovascular phenotype | Uncertain significance
(Mar 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258867-47258868
- GRCh38:
- Chr19:46755610-46755611
| FKRP | F56fs | Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, not provided, Walker-Warburg congenital muscular dystrophy
| Pathogenic
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259252
- GRCh38:
- Chr19:46755995
| FKRP | Y182C | 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, Walker-Warburg congenital muscular dystrophy, not provided
| Pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259605
- GRCh38:
- Chr19:46756348
| FKRP | V300M | Cardiovascular phenotype, 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,
Autosomal recessive limb-girdle muscular dystrophy, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2Inot provided,
Autosomal recessive limb-girdle muscular dystrophy type 2I, ...see more | Conflicting interpretations of pathogenicity
(Apr 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259727
- GRCh38:
- Chr19:46756470
| FKRP | | Walker-Warburg congenital muscular dystrophy, not specified, 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 | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259533
- Chr19:47258782-47258783
- Chr19:47258781
- GRCh38:
- Chr19:46756276
- Chr19:46755525-46755526
- Chr19:46755524
| FKRP, FKRP, FKRP | L276I, W26fs, S25* | Autosomal recessive limb-girdle muscular dystrophy type 2I | Likely pathogenic
(Dec 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47259654
- GRCh38:
- Chr19:46756397
| FKRP | P316R | 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
| Pathogenic/Likely pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47260083
- GRCh38:
- Chr19:46756826
| FKRP | A459V | 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
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259293
- GRCh38:
- Chr19:46756036
| FKRP | G196R | 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,
Autosomal recessive limb-girdle muscular dystrophy type 2I | Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259780
- GRCh38:
- Chr19:46756523
| FKRP | P358L | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy, not provided
| Conflicting interpretations of pathogenicity
(Mar 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259529
- GRCh38:
- Chr19:46756272
| FKRP | I274M | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, 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,
not specified | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259134
- GRCh38:
- Chr19:46755877
| FKRP | R143S | Primary dilated cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy,
Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
not specified, not providedAutosomal recessive limb-girdle muscular dystrophy type 2I,
...see more | Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258899
- GRCh38:
- Chr19:46755642
| FKRP | | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, 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 specified,
not provided | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259292
- GRCh38:
- Chr19:46756035
| FKRP | | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy type B5, 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, Muscular dystrophy-dystroglycanopathy type B5,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, not specified ...see more | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259227
- GRCh38:
- Chr19:46755970
| FKRP | S174C | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Walker-Warburg congenital muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
not specified | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259111
- GRCh38:
- Chr19:46755854
| FKRP | A135D | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
not provided | Uncertain significance
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259048
- GRCh38:
- Chr19:46755791
| FKRP | A114G | Cardiovascular phenotype, not specified, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5,
Walker-Warburg congenital muscular dystrophy | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47258956
- GRCh38:
- Chr19:46755699
| FKRP | | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not specified,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, not provided | Benign/Likely benign
(Apr 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258842
- GRCh38:
- Chr19:46755585
| FKRP | | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not specified,
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 | Benign
(Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258674
- GRCh38:
- Chr19:46755417
| FKRP | | not specified, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Autosomal recessive limb-girdle muscular dystrophy type 2I | Benign
(Jun 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47260094
- GRCh38:
- Chr19:46756837
| FKRP | N463D | not provided, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy,
Autosomal recessive limb-girdle 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, Muscular dystrophy-dystroglycanopathy type B5
| Pathogenic/Likely pathogenic
(Jan 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259606
- GRCh38:
- Chr19:46756349
| FKRP | V300A | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle 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, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Autosomal recessive limb-girdle muscular dystrophy type 2I | Pathogenic/Likely pathogenic
(Feb 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259920
- GRCh38:
- Chr19:46756663
| FKRP | V405L | Muscular dystrophy-dystroglycanopathy type B5 | Pathogenic
(Feb 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr19:47260071
- GRCh38:
- Chr19:46756814
| FKRP | A455D | Walker-Warburg congenital muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2I
| Pathogenic
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259370
- GRCh38:
- Chr19:46756113
| FKRP | S221R | Muscular dystrophy-dystroglycanopathy type B5 | Pathogenic
(Mar 25, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr19:47259653
- GRCh38:
- Chr19:46756396
| FKRP | P316T | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2I | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259533
- GRCh38:
- Chr19:46756276
| FKRP | L276I | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Limb-girdle muscular dystrophy,
Autosomal recessive limb-girdle 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 2Inot provided,
Muscular dystrophy-dystroglycanopathy type B5, Myopathy, Muscular dystrophy-dystroglycanopathy,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Scapular winging,
Gait imbalance, Headache, Muscle weakness,
Difficulty standing, Difficulty climbing stairs, Paresthesia,
Difficulty walking, ...see more | Pathogenic/Likely pathogenic
(Aug 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47260050
- GRCh38:
- Chr19:46756793
| FKRP | P448L | Cardiovascular phenotype, 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
| Pathogenic/Likely pathogenic
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |