| - GRCh37:
- Chr19:45474677-48760659
- GRCh38:
- Chr19:44971420-48257402
| AP2S1, ARHGAP35, BBC3, BICRA, BLOC1S3, BSPH1, C5AR1, C5AR2, CABP5, CALM3, CARD8, CARD8-AS1, CCDC61, CCDC8, CCDC9, CKM, CLASRP, CLPTM1, CRX, DACT3, DACT3-AS1, DHX34, DM1-AS, DMPK, DMWD, EHD2, ELSPBP1, EML2, EML2-AS1, ERCC1, ERCC2, EXOC3L2, FBXO46, FKRP, FOSB, FOXA3, GEMIN7, GEMIN7-AS1, GIPR, GNG8, GPR4, HIF3A, IGFL1, IGFL2, IGFL2-AS1, IGFL3, IGFL4, INAFM1, IRF2BP1, KLC3, KPTN, LIG1, LINC01595, LOC105372421, LOC105372424, LOC107075317, LOC108004523, LOC109461477, LOC111365212, LOC111413034, LOC112552159, LOC112552160, LOC112552161, LOC112552162, LOC112552164, LOC112552165, LOC112552166, LOC112552167, LOC116286190, LOC116286191, LOC121627879, LOC121627880, LOC121627881, LOC121627882, LOC121627883, LOC121852989, LOC121852990, LOC125371527, LOC125371528, LOC125371529, LOC125371530, LOC125371531, LOC125371532, LOC125371533, LOC125371534, LOC125371535, LOC125371536, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC126862913, LOC126862914, LOC126862915, LOC126862916, LOC126862917, LOC126862918, LOC126862919, LOC126862920, LOC93429, MARK4, MEIOSIN, MEIS3, MIR3190, MIR3191, MIR320E, MIR330, MIR6088, MIR642A, MIR642B, MIR769, MYPOP, NANOS2, NAPA, NAPA-AS1, NKPD1, NOP53, NOP53-AS1, NOVA2, NPAS1, OPA3, PGLYRP1, PLA2G4C, PLA2G4C-AS1, PNMA8A, PNMA8B, PNMA8C, POLR1G, PPM1N, PPP1R13L, PPP1R37, PPP5C, PPP5D1, PRKD2, PTGIR, QPCTL, RELB, RSPH6A, RTN2, SAE1, SELENOW, SIX5, SLC1A5, SLC8A2, SNAR-A1, SNAR-A12, SNAR-A13, SNAR-A2, SNAR-A3, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-E, SNORD23, SNRPD2, STRN4, SULT2A1, SYMPK, TMEM160, TPRX1, TPRX2, TRAPPC6A, TRU-TCA1-1, VASP, ZC3H4, ZNF296, ZNF541, ZSWIM9 | | See cases | Pathogenic
(Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:45890647-47334257
- GRCh38:
- Chr19:45387389-46831000
| CALM3, CCDC61, CCDC8, DACT3, DACT3-AS1, DM1-AS, DMPK, DMWD, EML2, EML2-AS1, ERCC1, FBXO46, FKRP, FOSB, FOXA3, GIPR, GNG8, GPR4, HIF3A, IGFL1, IGFL2, IGFL2-AS1, IGFL3, IGFL4, IRF2BP1, LOC105372421, LOC105372424, LOC107075317, LOC109461477, LOC111365212, LOC111413034, LOC112552159, LOC112552160, LOC112552161, LOC112552162, LOC121627880, LOC121627881, LOC125371531, LOC125371532, LOC125371533, LOC125371534, LOC125371535, LOC125371536, LOC126862913, LOC126862914, LOC126862915, LOC126862916, LOC126862917, LOC126862918, LOC93429, MEIOSIN, MIR320E, MIR330, MIR6088, MIR642A, MIR642B, MIR769, MYPOP, NANOS2, NOVA2, OPA3, PGLYRP1, PNMA8A, PNMA8B, PNMA8C, POLR1G, PPM1N, PPP1R13L, PPP5C, PPP5D1, PRKD2, PTGIR, QPCTL, RSPH6A, RTN2, SIX5, SLC1A5, SNAR-E, SNRPD2, STRN4, SYMPK, TRU-TCA1-1, VASP | | See cases | Likely pathogenic
(Jan 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr19:46937747-47334257
- GRCh38:
- Chr19:46434490-46831000
| CALM3, DACT3, DACT3-AS1, FKRP, GNG8, LOC112552162, LOC125371535, LOC125371536, LOC126862917, LOC126862918, MIR320E, PNMA8A, PNMA8B, PPP5D1, PRKD2, PTGIR, SLC1A5, SNAR-E, STRN4 | | See cases | Uncertain significance
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:46937747-47334257
- GRCh38:
- Chr19:46434490-46831000
| CALM3, DACT3, DACT3-AS1, FKRP, GNG8, LOC112552162, LOC125371535, LOC125371536, LOC126862917, LOC126862918, MIR320E, PNMA8A, PNMA8B, PPP5D1, PRKD2, PTGIR, SLC1A5, SNAR-E, STRN4 | | See cases | Uncertain significance
(May 27, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:46961379-48186836
- GRCh38:
- Chr19:46458122-47683579
| AP2S1, ARHGAP35, BBC3, BICRA, C5AR1, C5AR2, CALM3, CCDC9, DACT3, DACT3-AS1, DHX34, FKRP, GNG8, INAFM1, KPTN, LOC112552162, LOC112552164, LOC112552165, LOC112552166, LOC116286190, LOC116286191, LOC121627882, LOC121852990, LOC125371535, LOC125371536, LOC125371537, LOC125371538, LOC125371539, LOC126862917, LOC126862918, LOC126862919, MEIS3, MIR3190, MIR3191, MIR320E, NAPA, NAPA-AS1, NPAS1, PNMA8A, PNMA8B, PPP5D1, PRKD2, PTGIR, SAE1, SLC1A5, SLC8A2, SNAR-E, STRN4, TMEM160, ZC3H4, ZNF541 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47162048-49553707
- GRCh38:
- Chr19:46658791-49050450
| AP2S1, ARHGAP35, BAX, BBC3, BCAT2, BICRA, BSPH1, C5AR1, C5AR2, CA11, CABP5, CARD8, CARD8-AS1, CCDC9, CGB1, CGB2, CGB3, CGB5, CGB8, CRX, CYTH2, DACT3, DACT3-AS1, DBP, DHDH, DHX34, EHD2, ELSPBP1, EMP3, FAM83E, FGF21, FKRP, FTL, FUT1, FUT2, GRIN2D, GRWD1, GYS1, HSD17B14, INAFM1, IZUMO1, KCNJ14, KDELR1, KPTN, LHB, LIG1, LINC01595, LMTK3, LOC105372430, LOC105447645, LOC109279247, LOC111721713, LOC111828494, LOC112552162, LOC112552164, LOC112552165, LOC112552166, LOC112552167, LOC112552168, LOC112552169, LOC112552170, LOC112552171, LOC112552172, LOC112552173, LOC116286190, LOC116286191, LOC116286192, LOC117125599, LOC117125600, LOC117125601, LOC117125602, LOC119369027, LOC119369028, LOC119369029, LOC119369030, LOC119369031, LOC119369032, LOC119369033, LOC119369034, LOC119369035, LOC119369036, LOC119369037, LOC121627882, LOC121627883, LOC121627884, LOC121627885, LOC121852990, LOC121852991, LOC125371536, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC125371542, LOC125371543, LOC125371544, LOC126862917, LOC126862918, LOC126862919, LOC126862920, MAMSTR, MEIS3, MIR3190, MIR3191, MIR320E, MIR6798, NAPA, NAPA-AS1, NOP53, NOP53-AS1, NPAS1, NTN5, NUCB1, NUCB1-AS1, ODAD1, PLA2G4C, PLA2G4C-AS1, PLEKHA4, PPP1R15A, PRKD2, RASIP1, RPL18, RUVBL2, SAE1, SAXO3, SELENOW, SLC1A5, SLC8A2, SNAR-A1, SNAR-A12, SNAR-A13, SNAR-A2, SNAR-A3, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-E, SNAR-G1, SNAR-G2, SNORD23, SPACA4, SPHK2, STRN4, SULT2A1, SULT2B1, SYNGR4, TMEM143, TMEM160, TPRX1, TPRX2, TULP2, ZC3H4, ZNF114, ZNF541, ZSWIM9 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249265
- GRCh38:
- Chr19:46746008
| FKRP, STRN4 | | not provided | Likely benign
(Jun 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249278
- GRCh38:
- Chr19:46746021
| FKRP, STRN4 | | not provided | Benign
(May 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249296
- GRCh38:
- Chr19:46746039
| FKRP, STRN4 | | not provided | Benign
(Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249297
- GRCh38:
- Chr19:46746040
| STRN4, FKRP | | not provided | Likely benign
(Apr 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249327-47249328
- GRCh38:
- Chr19:46746070-46746071
| FKRP, STRN4 | | not specified | Likely benign
(Apr 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249328
- GRCh38:
- Chr19:46746071
| FKRP, STRN4 | | Autosomal recessive limb-girdle muscular dystrophy type 2I | Pathogenic
(Jan 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249328-47249333
- GRCh38:
- Chr19:46746071-46746076
| FKRP, STRN4 | | not specified | Likely benign
(Jul 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249351
- GRCh38:
- Chr19:46746094
| FKRP, STRN4 | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | Uncertain significance
(Nov 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249351-47249352
- GRCh38:
- Chr19:46746094-46746095
| STRN4, FKRP | | not provided | Benign
(Jun 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249356
- GRCh38:
- Chr19:46746099
| FKRP, STRN4 | | not provided | Likely benign
(Apr 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249361
- GRCh38:
- Chr19:46746104
| FKRP, STRN4 | | not specified | Likely benign
(Nov 2, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249416
- GRCh38:
- Chr19:46746159
| FKRP, STRN4 | A91V | Inborn genetic diseases | Uncertain significance
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249437
- GRCh38:
- Chr19:46746180
| FKRP, STRN4 | A84V | Inborn genetic diseases | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249506
- GRCh38:
- Chr19:46746249
| FKRP, STRN4 | E61A | Inborn genetic diseases | Uncertain significance
(Oct 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249531
- GRCh38:
- Chr19:46746274
| FKRP, STRN4 | S53R | Inborn genetic diseases | Uncertain significance
(Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249632
- GRCh38:
- Chr19:46746375
| FKRP, STRN4 | P19Q | Inborn genetic diseases | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249636
- GRCh38:
- Chr19:46746379
| STRN4, FKRP | R18C | Inborn genetic diseases | Uncertain significance
(Jul 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249658
- GRCh38:
- Chr19:46746401
| FKRP, STRN4 | | not provided | Likely benign
(Feb 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47249678
- GRCh38:
- Chr19:46746421
| FKRP, STRN4 | E4* | not provided | Uncertain significance
(Nov 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47251159
- GRCh38:
- Chr19:46747902
| FKRP | | not provided | Likely benign
(Dec 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47251290
- GRCh38:
- Chr19:46748033
| FKRP | | not provided | Likely benign
(Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47251330
- GRCh38:
- Chr19:46748073
| FKRP | | not provided | Likely benign
(Mar 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47251339
- GRCh38:
- Chr19:46748082
| FKRP | | not specified | Likely benign
(May 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47251341
- GRCh38:
- Chr19:46748084
| FKRP | | not specified | Likely benign
(Nov 30, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47251679
- GRCh38:
- Chr19:46748422
| FKRP | | not provided | Benign
(Jun 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47251908-47251910
- GRCh38:
- Chr19:46748651-46748653
| FKRP | | not specified | Likely benign
(Jan 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47251930
- GRCh38:
- Chr19:46748673
| FKRP | | not specified | Benign
(Dec 19, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47252008
- GRCh38:
- Chr19:46748751
| FKRP | | not provided | Likely benign
(Nov 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47255735-47259271
- GRCh38:
- Chr19:46752478-46756014
| FKRP | | Walker-Warburg congenital muscular dystrophy | Pathogenic
(May 4, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258426
- GRCh38:
- Chr19:46755169
| FKRP | | not provided | Likely benign
(Jun 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258447-47258448
- GRCh38:
- Chr19:46755190-46755191
| FKRP | | not provided | Likely benign
(Dec 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258448
- GRCh38:
- Chr19:46755191
| FKRP | | not provided | Benign
(Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258448-47258449
- GRCh38:
- Chr19:46755191-46755192
| FKRP | | not provided | Likely benign
(Aug 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258653
- GRCh38:
- Chr19:46755396
| FKRP | | not specified | Likely benign
(Oct 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258654
- GRCh38:
- Chr19:46755397
| FKRP | | not specified | Likely benign
(Feb 5, 2018) | criteria provided, single submitter |
| - 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:
- Chr19:47258678
- GRCh38:
- Chr19:46755421
| FKRP | | not specified | Likely benign
(Nov 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258688-47260215
- GRCh38:
- Chr19:46755431-46756958
| FKRP | | Walker-Warburg congenital muscular dystrophy | Pathogenic
(Jul 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258704
- GRCh38:
- Chr19:46755447
| FKRP | | Cardiovascular phenotype | Uncertain significance
(Jul 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258706
- GRCh38:
- Chr19:46755449
| FKRP | | Cardiovascular phenotype, not specified | Conflicting interpretations of pathogenicity
(Aug 20, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47258708
- GRCh38:
- Chr19:46755451
| FKRP | M1L | Walker-Warburg congenital muscular dystrophy | Pathogenic
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258708
- GRCh38:
- Chr19:46755451
| FKRP | M1V | not provided | Pathogenic
(Sep 21, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258711
- GRCh38:
- Chr19:46755454
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258711
- GRCh38:
- Chr19:46755454
| FKRP | R2W | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258712
- GRCh38:
- Chr19:46755455
| FKRP | R2Q | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258712
- GRCh38:
- Chr19:46755455
| FKRP | R2L | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258716
- GRCh38:
- Chr19:46755459
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Oct 10, 2019) | criteria provided, single submitter |
| - 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:
- Chr19:47258717
- 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:
- Chr19:47258718
- 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:
- Chr19:47258720
- GRCh38:
- Chr19:46755463
| FKRP | R5C | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Nov 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258722
- GRCh38:
- Chr19:46755465
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Jul 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258723
- GRCh38:
- Chr19:46755466
| FKRP | C6R | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258725
- GRCh38:
- Chr19:46755468
| FKRP | | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype | Likely benign
(Dec 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258726
- GRCh38:
- Chr19:46755469
| FKRP | Q7* | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258729
- GRCh38:
- Chr19:46755472
| FKRP | A8T | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258733
- GRCh38:
- Chr19:46755476
| FKRP | A9V | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258737-47258739
- GRCh38:
- Chr19:46755480-46755482
| FKRP | A13del | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258739
- GRCh38:
- Chr19:46755482
| FKRP | A11V | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258740
- GRCh38:
- Chr19:46755483
| FKRP | | not specified | Likely benign
(Sep 28, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr19:47258744
- GRCh38:
- Chr19:46755487
| FKRP | A13T | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258750
- GRCh38:
- Chr19:46755493
| FKRP | T15P | not provided, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
| Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258751
- GRCh38:
- Chr19:46755494
| FKRP | T15I | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258752
- GRCh38:
- Chr19:46755495
| FKRP | | Cardiovascular phenotype | Likely benign
(Dec 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258752
- GRCh38:
- Chr19:46755495
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258755
- GRCh38:
- Chr19:46755498
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258759
- GRCh38:
- Chr19:46755502
| FKRP | L18F | Walker-Warburg congenital muscular dystrophy, not provided | Uncertain significance
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258761
- GRCh38:
- Chr19:46755504
| FKRP | | Cardiovascular phenotype, not provided, Walker-Warburg congenital muscular dystrophy
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47258764
- GRCh38:
- Chr19:46755507
| FKRP | | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258766
- GRCh38:
- Chr19:46755509
| FKRP | V20A | not provided, Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258767
- GRCh38:
- Chr19:46755510
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258767
- GRCh38:
- Chr19:46755510
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258768
- GRCh38:
- Chr19:46755511
| FKRP | L21F | Cardiovascular phenotype | Uncertain significance
(Mar 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258773
- GRCh38:
- Chr19:46755516
| FKRP | | not specified, Walker-Warburg congenital muscular dystrophy | Likely benign
(Sep 18, 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:
- Chr19:47258776
- GRCh38:
- Chr19:46755519
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258781
- GRCh38:
- Chr19:46755524
| FKRP | S25* | | no interpretation for the single variant | no interpretation for the single variant |
| - GRCh37:
- Chr19:47258782
- GRCh38:
- Chr19:46755525
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Oct 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258782
- GRCh38:
- Chr19:46755525
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Apr 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258782-47258783
- GRCh38:
- Chr19:46755525-46755526
| FKRP | W26fs | | no interpretation for the single variant | no interpretation for the single variant |
| - GRCh37:
- Chr19:47258784
- GRCh38:
- Chr19:46755527
| FKRP | W26L | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258784
- GRCh38:
- Chr19:46755527
| FKRP | W26* | Autosomal recessive limb-girdle muscular dystrophy type 2I, not provided | Pathogenic/Likely pathogenic
(Mar 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258786
- GRCh38:
- Chr19:46755529
| FKRP | | Walker-Warburg congenital muscular dystrophy | Likely benign
(Mar 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258789
- GRCh38:
- Chr19:46755532
| FKRP | Q28E | Walker-Warburg congenital muscular dystrophy, not provided | Uncertain significance
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258790
- GRCh38:
- Chr19:46755533
| FKRP | Q28R | Walker-Warburg congenital muscular dystrophy, not provided | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258792
- GRCh38:
- Chr19:46755535
| FKRP | H29N | Cardiovascular phenotype | Uncertain significance
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258792
- GRCh38:
- Chr19:46755535
| FKRP | H29Y | Walker-Warburg congenital muscular dystrophy, not provided | Uncertain significance
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47258793
- GRCh38:
- Chr19:46755536
| FKRP | H29R | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258798
- GRCh38:
- Chr19:46755541
| FKRP | P31S | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258804
- GRCh38:
- Chr19:46755547
| FKRP | N33D | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258807
- GRCh38:
- Chr19:46755550
| FKRP | S34T | Cardiovascular phenotype | Uncertain significance
(Feb 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258808
- GRCh38:
- Chr19:46755551
| FKRP | S34F | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258810
- GRCh38:
- Chr19:46755553
| FKRP | R35W | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258811
- GRCh38:
- Chr19:46755554
| FKRP | R35Q | Walker-Warburg congenital muscular dystrophy | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |