| - GRCh37:
- ChrX:37587151
- GRCh38:
- ChrX:37727898
| XK | W257* | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:48247726
- GRCh38:
- Chr17:50170365
| SGCA | | Autosomal recessive limb-girdle muscular dystrophy type 2D | Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:32364199
- GRCh38:
- ChrX:32346082
| DMD | | Elevated circulating creatine kinase concentration | Likely pathogenic
(Dec 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:31200854
- GRCh38:
- ChrX:31182737
| DMD | | Elevated circulating creatine kinase concentration | Likely pathogenic
(Dec 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:77744803
- GRCh38:
- Chr14:77278460
| POMT2 | S694L | Elevated circulating creatine kinase concentration | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr3:49568780
- GRCh38:
- Chr3:49531347
| DAG1 | P280fs | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:8787407
- GRCh38:
- Chr3:8745721
| CAV3, OXTR | V104L | Long QT syndrome, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2,
Long QT syndrome 9, Elevated circulating creatine kinase concentration, Distal myopathy, Tateyama type
| Uncertain significance
(Dec 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:32486746-32486747
- GRCh38:
- ChrX:32468629-32468630
| DMD | P1003fs, P1007fs, P1011fs, P888fs | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:32472950
- GRCh38:
- ChrX:32454833
| DMD | | Elevated circulating creatine kinase concentration | Pathogenic
(Dec 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121432034
- GRCh38:
- Chr10:119672522
| BAG3 | P259S | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:32383279
- GRCh38:
- ChrX:32365162
| DMD | L1505P, L1620P, L1624P, L1628P, L284P, L287P | Elevated circulating creatine kinase concentration | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr11:22257814
- GRCh38:
- Chr11:22236268
| ANO5 | L251F, L252F | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh38:
- ChrX:32644161-32644191
| DMD | | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:64518005
- GRCh38:
- Chr11:64750533
| PYGM | A586T, A674T | Glycogen storage disease, type V | Uncertain significance
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:8775597
- GRCh38:
- Chr3:8733911
| CAV3 | Q12R | Long QT syndrome, Hypertrophic cardiomyopathy 1, Long QT syndrome 9,
Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Rippling muscle disease 2
| Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787344
- GRCh38:
- Chr3:8745658
| CAV3, OXTR | P83S | Long QT syndrome, Hypertrophic cardiomyopathy 1, Long QT syndrome 9,
Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Rippling muscle disease 2
| Uncertain significance
(Nov 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:49759264
- GRCh38:
- Chr3:49721831
| GMPPB | E335V, E362V | Elevated circulating creatine kinase concentration | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr11:64522235
- GRCh38:
- Chr11:64754763
| PYGM | R222H, R310H | Glycogen storage disease, type V | Uncertain significance
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:32613967
- GRCh38:
- ChrX:32595850
| DMD | E380fs, E495fs, E499fs, E503fs | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:8787396
- GRCh38:
- Chr3:8745710
| CAV3, OXTR | I100N | Hypertrophic cardiomyopathy 1, Elevated circulating creatine kinase concentration, Rippling muscle disease 2,
Long QT syndrome 9, Distal myopathy, Tateyama type | Likely pathogenic
(Jan 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:8788211
- GRCh38:
- Chr3:8746525
| CAV3, OXTR | | Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type,
Elevated circulating creatine kinase concentration, Long QT syndrome 9, Caveolinopathy
| Uncertain significance
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787994
- GRCh38:
- Chr3:8746308
| OXTR, CAV3 | | Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type,
Elevated circulating creatine kinase concentration, Long QT syndrome 9, Caveolinopathy
| Uncertain significance
(Sep 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787687
- GRCh38:
- Chr3:8746001
| OXTR, CAV3 | | Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type,
Elevated circulating creatine kinase concentration, Long QT syndrome 9, Caveolinopathy
| Uncertain significance
(Sep 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787407
- GRCh38:
- Chr3:8745721
| OXTR, CAV3 | V104M | Long QT syndrome, Rippling muscle disease 2, Elevated circulating creatine kinase concentration,
Long QT syndrome 9, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type,
not provided | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:32472779
- GRCh38:
- ChrX:32454662
| DMD | | Duchenne muscular dystrophy | Likely benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:8775622
- GRCh38:
- Chr3:8733936
| CAV3 | | Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9,
Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Long QT syndrome,
Cardiovascular phenotype | Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:32196272-75245806
| ABCB7, AKAP4, ALAS2, AMER1, APEX2, AR, ARAF, ARHGEF9, ARR3, ASB12, ATP6AP2, AWAT1, AWAT2, BCOR, BMP15, CACNA1F, CASK, CCDC120, CCDC22, CCNB3, CDK16, CDX4, CFAP47, CFP, CHIC1, CHST7, CITED1, CLCN5, CXCR3, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf65, CYBB, DDX3X, DGAT2L6, DGKK, DIPK2B, DLG3, DMD, DMRTC1, DMRTC1B, DUSP21, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, ELK1, ERAS, ERCC6L, FAAH2, FAM104B, FAM120C, FAM156A, FAM156B, FAM47A, FAM47B, FAM47C, FGD1, FOXO4, FOXP3, FOXR2, FTSJ1, FTX, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDPD2, GJB1, GLOD5, GNL3L, GPKOW, GPR173, GPR34, GPR82, GRIPAP1, GSPT2, H2AP, HDAC6, HDAC8, HEPH, HSD17B10, HUWE1, IGBP1, IL2RG, INE1, IQSEC2, ITGB1BP2, ITIH6, JADE3, JPX, KCND1, KDM5C, KDM6A, KIF4A, KLF8, KRBOX4, LANCL3, LAS1L, LINC01560, MAGEB16, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE2, MAGEH1, MAGIX, MAOA, MAOB, MED12, MED14, MID1IP1, MIR221, MIR222, MIR223, MIR502, MIR532, MIR98, MIRLET7F2, MPC1L, MSN, MTMR8, MTRNR2L10, NALF2, NAP1L2, NDP, NDUFB11, NEXMIF, NHSL2, NLGN3, NONO, NUDT10, NUDT11, NYX, OGT, OPHN1, OTC, OTUD5, OTUD6A, P2RY4, PABPC1L2A, PABPC1L2B, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PCSK1N, PDZD11, PFKFB1, PHF8, PHKA1, PIM2, PIN4, PJA1, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, PRRG1, RAB41, RBM10, RBM3, RGN, RIBC1, RLIM, RP2, RPGR, RPS4X, RRAGB, RTL5, SHROOM4, SLC16A2, SLC35A2, SLC38A5, SLC7A3, SLC9A7, SMC1A, SNORA11, SNX12, SPACA5, SPACA5B, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPX, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STARD8, SUV39H1, SYN1, SYP, SYTL5, TAF1, TBC1D25, TEX11, TFE3, TIMM17B, TIMP1, TMEM47, TRO, TSIX, TSPAN7, TSPYL2, TSR2, UBA1, UBQLN2, UPRT, USP11, USP27X, USP51, USP9X, UXT, VSIG4, WAS, WDR13, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIST, XK, YIPF6, ZC3H12B, ZC4H2, ZCCHC13, ZDHHC15, ZMYM3, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF81, ZXDA, ZXDB | | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr19:38943526
- GRCh38:
- Chr19:38452886
| RYR1 | E438Q | Rhabdomyolysis, Elevated circulating creatine kinase concentration, Abnormality of female external genitalia,
Hypoplastic female external genitalia, Involuntary movements, Dystonic disorder,
Global developmental delay, Orofacial dyskinesia, Abnormal globus pallidus morphology,
Oculomotor apraxia, not provided ...see more | Uncertain significance
(Nov 15, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28474681
- GRCh38:
- Chr15:28229535
| HERC2 | N1682S | Inborn genetic diseases, Rhabdomyolysis, Elevated circulating creatine kinase concentration,
Abnormality of female external genitalia, Hypoplastic female external genitalia, Involuntary movements,
Dystonic disorder, Global developmental delay, Orofacial dyskinesia,
Abnormal globus pallidus morphology, Oculomotor apraxia ...see more | Uncertain significance
(Nov 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:78078389
- GRCh38:
- Chr17:80104590
| GAA | G2* | Glycogen storage disease, type II | Likely pathogenic
(Mar 10, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:49760449
- GRCh38:
- Chr3:49723016
| GMPPB | M120V | Autosomal recessive limb-girdle muscular dystrophy type 2T | Pathogenic
(Oct 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22291924
- GRCh38:
- Chr11:22270378
| ANO5 | W655C, W654C | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Elevated circulating creatine kinase concentration,
Fatty replacement of skeletal muscle, Distal muscle weakness | Conflicting interpretations of pathogenicity
(Jun 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:33038255
- GRCh38:
- ChrX:33020138
| DMD | | Elevated circulating creatine kinase concentration, Atrial septal defect, Dilated cardiomyopathy 3B
| Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:31792299-31792300
- GRCh38:
- ChrX:31774182-31774183
| DMD | T2441fs, T1097fs, T2433fs, T2318fs, T1100fs, T2437fs | Elevated circulating creatine kinase concentration, Progressive proximal muscle weakness | Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2156223-2156225
- GRCh38:
- Chr16:2106222-2106224
| PKD1 | E2524del | not provided, Polycystic kidney dysplasia, Elevated circulating creatine kinase concentration,
Lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture
| Conflicting interpretations of pathogenicity
(Mar 10, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:38943478
- GRCh38:
- Chr19:38452838
| RYR1 | G422R | Elevated circulating creatine kinase concentration, Myalgia, Exercise-induced myalgia,
RYR1-Related Disorders, not provided, Central core myopathy,
Congenital myopathy with fiber type disproportion | Conflicting interpretations of pathogenicity
(Jun 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:34611352-36248918
| DDX52, DHRS11, ZNHIT3, DUSP14, GGNBP2, SYNRG, TADA2A, TBC1D3H, AATF, ACACA, C17orf78, CCL3L1, CCL4L1, HNF1B, LHX1, MRM1, MYO19, PIGW | | Lower limb muscle weakness, Distal lower limb amyotrophy, Elevated circulating creatine kinase concentration
| Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:129591912
- GRCh38:
- Chr6:129270767
| LAMA2 | | Myalgia, Exercise-induced myalgia, Elevated circulating creatine kinase concentration,
not specified, LAMA2-related muscular dystrophy | Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8787231
- GRCh38:
- Chr3:8745545
| OXTR, CAV3 | I45N | Elevated circulating creatine kinase concentration, not provided | Uncertain significance
(Dec 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787351
- GRCh38:
- Chr3:8745665
| CAV3, OXTR | A85V | Rippling muscle disease 2, Long QT syndrome 9, Distal myopathy, Tateyama type,
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Long QT syndrome
| Uncertain significance
(Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:22248846
- GRCh38:
- Chr11:22227300
| ANO5 | | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:32756908
- GRCh38:
- ChrX:32738791
| DMD | | Dystrophinopathy, Duchenne muscular dystrophy | Conflicting interpretations of pathogenicity
(Apr 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:37821701-37821702
- GRCh38:
- Chr17:39665448-39665449
| TCAP | S31fs | Abnormality of the musculature | Likely pathogenic
(Jul 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:32456357
- GRCh38:
- ChrX:32438240
| DMD | | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:31196798
- GRCh38:
- ChrX:31178681
| DMD | D2063fs, D2060fs, D3396fs, D3400fs, D3404fs, D675fs, D944fs, D336fs, D3281fs | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| | | | Miyoshi muscular dystrophy 3, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely pathogenic
(Oct 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr3:8787240
- GRCh38:
- Chr3:8745554
| CAV3, OXTR | P48R | Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2,
Distal myopathy, Tateyama type, Long QT syndrome 9, Cardiovascular phenotype,
Long QT syndrome | Uncertain significance
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787318
- GRCh38:
- Chr3:8745632
| CAV3, OXTR | R74H | Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2,
Distal myopathy, Tateyama type, Long QT syndrome 9, not provided,
Long QT syndrome, Cardiomyopathy | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787222
- GRCh38:
- Chr3:8745536
| CAV3, OXTR | E42A | Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2,
Distal myopathy, Tateyama type, Long QT syndrome 9, Cardiovascular phenotype,
not provided, Long QT syndrome, not specified
| Uncertain significance
(Apr 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787279
- GRCh38:
- Chr3:8745593
| CAV3, OXTR | S61N | Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2,
Distal myopathy, Tateyama type, Long QT syndrome 9, not provided,
Long QT syndrome | Uncertain significance
(Feb 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38976295
- GRCh38:
- Chr19:38485655
| RYR1 | R1667H | not provided, Congenital myopathy with fiber type disproportion, Myalgia,
Exercise-induced myalgia, Elevated circulating creatine kinase concentration, RYR1-Related Disorders,
not specified, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndromeCentral core myopathy,
Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1, ...see more | Uncertain significance
(Jan 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:32305797
- GRCh38:
- ChrX:32287680
| DMD | Q2047*, Q1924*, Q703*, Q706*, Q2039*, Q2043* | Elevated circulating creatine kinase concentration | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:8788405
- GRCh38:
- Chr3:8746719
| CAV3, OXTR | | Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1,
Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy,
Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome | Uncertain significance
(Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8788387
- GRCh38:
- Chr3:8746701
| CAV3, OXTR | | Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1,
Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy,
Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome | Uncertain significance
(Sep 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8788294
- GRCh38:
- Chr3:8746608
| CAV3, OXTR | | Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1,
Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy,
Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8788145
- GRCh38:
- Chr3:8746459
| CAV3, OXTR | | Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1,
Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy,
Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome | Uncertain significance
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:31227651
- GRCh38:
- ChrX:31209534
| DMD | D3176G, D108G, D447G, D3168G, D716G, D1832G, D1835G, D3053G, D3172G | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:22257818
- GRCh38:
- Chr11:22236272
| ANO5 | H253P, H252P | Elevated circulating creatine kinase concentration | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr9:119461381-119461382
- GRCh38:
- Chr9:116699102-116699103
| TRIM32, ASTN2 | T456fs | Elevated circulating creatine kinase concentration | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:8775569-8775576
- GRCh38:
- Chr3:8733883-8733890
| CAV3 | E4fs | Cardiovascular phenotype, not provided, Elevated circulating creatine kinase concentration,
Long QT syndrome | Conflicting interpretations of pathogenicity
(Jul 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8787497
- GRCh38:
- Chr3:8745811
| CAV3, OXTR | A134T | not provided, Long QT syndrome, Hypertrophic cardiomyopathy 1,
Long QT syndrome 9, Elevated circulating creatine kinase concentration, Distal myopathy, Tateyama type,
Rippling muscle disease 2 | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:22283708
- GRCh38:
- Chr11:22262162
| ANO5 | S555I, S554I | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3,
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Distal muscle weakness,
Myopathy, Autosomal recessive limb-girdle muscular dystrophy type 2L, not provided,
Gnathodiaphyseal dysplasia | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8787498
- GRCh38:
- Chr3:8745812
| CAV3, OXTR | A134V | Cardiovascular phenotype, Long QT syndrome, Cardiomyopathy,
not provided, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type,
Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Long QT syndrome 9
| Uncertain significance
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39027398
- GRCh38:
- Chr19:38536758
| RYR1 | R3867C, R3862C | Myalgia, Exercise-induced myalgia, Elevated circulating creatine kinase concentration,
Congenital myopathy with fiber type disproportion, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1, RYR1-Related Disorders,
not provided | Conflicting interpretations of pathogenicity
(Dec 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:31341732-31341735
- GRCh38:
- ChrX:31323615-31323618
| DMD | N3064fs, N608fs, N3068fs, N1727fs, N3060fs, N1724fs, N2945fs, N339fs | not provided, Elevated circulating creatine kinase concentration, Duchenne muscular dystrophy
| Pathogenic
(Jan 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193332587-193332604
- GRCh38:
- Chr3:193614798-193614815
| OPA1 | | Abortive cerebellar ataxia, not provided, not specified,
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, Hepatic steatosis, EMG abnormality,
EMG: myopathic abnormalities, EMG: myotonic runs, Progressive proximal muscle weakness,
Muscle weakness, PtosisElevated circulating creatine kinase concentration,
Hypomimic face, ...see more | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8787530
- GRCh38:
- Chr3:8745844
| CAV3, OXTR | V145M | not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 1,
Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome 9,
Elevated circulating creatine kinase concentration, not specified, Long QT syndrome
| Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:129781432
- GRCh38:
- Chr6:129460287
| LAMA2 | R2319* | Exercise-induced myalgia, Elevated circulating creatine kinase concentration, Myalgia,
LAMA2-related muscular dystrophy, not provided, Merosin deficient congenital muscular dystrophy
| Pathogenic
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695919
- GRCh38:
- Chr15:42403721
| CAPN3 | | Elevated circulating creatine kinase concentration, Absent muscle fiber calpain-3, Progressive spinal muscular atrophy,
Paresthesia, EMG: neuropathic changes, Difficulty walking,
Positive Romberg sign, Migraine, Autosomal recessive limb-girdle muscular dystrophy,
not specified, not providedAutosomal recessive limb-girdle muscular dystrophy type 2A,
...see more | Conflicting interpretations of pathogenicity
(May 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8787433
- GRCh38:
- Chr3:8745747
| CAV3, OXTR | | Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Rippling muscle disease 2,
Long QT syndrome 9, Elevated circulating creatine kinase concentration, Cardiovascular phenotype,
not specified, not provided, Cardiomyopathy,
Caveolinopathy, Long QT syndrome ...see more | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8775678
- GRCh38:
- Chr3:8733992
| CAV3 | | Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type,
Rippling muscle disease 2, Long QT syndrome 9, Long QT syndrome
| Pathogenic
(Nov 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42680001
- GRCh38:
- Chr15:42387803
| CAPN3 | T184fs | Muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal dominant 4, Muscle weakness,
Myopathy, Absent Achilles reflex, Absent muscle fiber calpain-3,
Migraine, Elevated circulating creatine kinase concentration, Progressive spinal muscular atrophy,
Paresthesia, EMG: neuropathic changesDifficulty walking,
Positive Romberg sign, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4,
CAPN3-Related Disorders, Limb-Girdle Muscular Dystrophy, Recessive, not provided,
Congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscle weakness,
Cardiac arrhythmia, Muscular dystrophy, Lower-limb joint contracture,
Elbow flexion contracture, EMG: myopathic abnormalities, Shoulder girdle muscle weakness,
Muscular dystrophy, Limb-girdle muscle weakness, Shoulder girdle muscle weakness,
See cases, ...see more | Pathogenic
(Aug 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8775648
- GRCh38:
- Chr3:8733962
| CAV3 | P29L | Elevated circulating creatine kinase concentration | Pathogenic
(Jan 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr3:8787385-8787387
- GRCh38:
- Chr3:8745699-8745701
| CAV3, OXTR | F97del | not provided | Uncertain significance
(Aug 26, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr3:8775642
- GRCh38:
- Chr3:8733956
| CAV3, SSUH2 | R27Q | Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome 9,
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, not provided,
Long QT syndrome, Distal myopathy, Tateyama type, Rippling muscle disease 2
| Pathogenic
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787233
- GRCh38:
- Chr3:8745547
| CAV3, OXTR | A46T | Cardiovascular phenotype, not provided, Long QT syndrome
| Pathogenic
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:8787313
- GRCh38:
- Chr3:8745627
| CAV3, OXTR | C72W | Cardiovascular phenotype, Long QT syndrome, not provided,
not specified, Limb-girdle muscular dystrophy, Caveolinopathy,
Cardiomyopathy, Long QT syndrome 1 | Conflicting interpretations of pathogenicity
(Aug 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8787263
- GRCh38:
- Chr3:8745577
| CAV3, OXTR | G56S | Long QT syndrome 9, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type,
Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Cardiovascular phenotype,
Limb-Girdle Muscular Dystrophy, Dominant, Long QT syndrome, not specified,
Limb-girdle muscular dystrophy, CardiomyopathyCaveolinopathy,
not provided, Long QT syndrome 1, ...see more | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75276240
- GRCh38:
- Chr8:74364005
| GDAP1 | L239F, L181F, L171F, L130F | Inborn genetic diseases, GDAP1-Related Disorders, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive,
Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease type 4A,
not provided, Charcot-Marie-Tooth disease type 4A, Sensory neuropathy,
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase concentrationPeripheral axonal neuropathy,
Polyneuropathy, ...see more | Pathogenic/Likely pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:22242646-22242647
- GRCh38:
- Chr11:22221100-22221101
| ANO5 | N63fs, N64fs | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Achilles tendon contracture,
Lower limb amyotrophy, Polycystic kidney dysplasia, Lower limb muscle weakness,
Elevated circulating creatine kinase concentration, ANO5-Related Disorders, Autosomal recessive limb-girdle muscular dystrophy type 2L,
Miyoshi muscular dystrophy 3, Gnathodiaphyseal dysplasiaAutosomal recessive limb-girdle muscular dystrophy,
not provided, Myopathy, Gnathodiaphyseal dysplasia,
Autosomal recessive limb-girdle muscular dystrophy type 2L, ...see more | Pathogenic/Likely pathogenic
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |