Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)	SNV Germline	Chr9:105604372	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter	CA116061	rs_119463996	2 SubmittersRCV000003358 RCV000626166
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	SNV Germline	Chr9:105617967	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	Criteria Provided Multiple Submitters No Conflicts	CA116088	rs_267606814	13 SubmittersRCV000003371 RCV000498134 RCV000795218 RCV002444418 RCV002496242 RCV003466795 RCV004819203
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)	SNV Germline	Chr14:77278849	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252628	rs_119463989	5 SubmittersRCV000003373 RCV000336243 RCV002496243 RCV003230345
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	SNV Germline	Chr14:77278764	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Condition: not provided Muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N POMT2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116093	rs_200198778	11 SubmittersRCV000003377 RCV000003376 RCV000081569 RCV000193219 RCV000515301 RCV000648175 RCV003398429
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)	SNV Germline	Chr9:131506217	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Condition: not provided	Criteria Provided Single Submitter	CA278040	rs_28941782	2 SubmittersRCV000003394 RCV001171882
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)	SNV Germline	Chr9:131510401	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Abnormality of the musculature Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Multiple Submitters No Conflicts	CA278042	rs_119462981	6 SubmittersRCV000003395 RCV001813941 RCV003231073 RCV003764521
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	SNV Germline	Chr9:131509801	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided Abnormality of the nervous system Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA203493	rs_119462982	11 SubmittersRCV000003399 RCV000179928 RCV001813942 RCV001385876 RCV001264826 RCV003234890 RCV003472966
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)	SNV Germline	Chr9:131506184	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA116108	rs_119462983	3 SubmittersRCV002512705 RCV002286389 RCV003460408
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	SNV Germline	Chr9:131522160	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA116114	rs_119462987	7 SubmittersRCV000414180 RCV000694423 RCV002286394 RCV003460409
NM_001077365.2(POMT1):c.1175+1G>A	SNV Germline	Chr9:131513332	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_1051679985	3 SubmittersRCV001383583 RCV002286395 RCV003472967
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)	SNV Germline	Chr19:46756793	Pathogenic/Likely pathogenic	Condition: 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 Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116699	rs_104894681	7 SubmittersRCV000360542 RCV000763056 RCV002381242 RCV002226440 RCV003466807 RCV003591620
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	SNV Germline	Chr19:46756276	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy 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 Muscular dystrophy-dystroglycanopathy type B5 Limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 8 conditions Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Myopathy Autosomal recessive limb-girdle muscular dystrophy Cardiovascular phenotype Myopathy caused by variation in FKRP FKRP-related disorder Neuronopathy, distal hereditary motor, type 2B Nizon-Isidor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA116701	rs_28937900	45 SubmittersRCV000004442 RCV000082182 RCV000231711 RCV000503787 RCV000515332 RCV000612115 RCV000660622 RCV000626960 RCV001197775 RCV001329320 RCV001526640 RCV002222338 RCV002408451 RCV003993736 RCV004532287 RCV004776425 RCV004776426
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	SNV Germline	Chr19:46756349	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Condition: 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 A1 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 (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116722	rs_104894691	14 SubmittersRCV000004453 RCV000814162 RCV000732974 RCV002371759 RCV002482826 RCV001813735 RCV003466810 RCV003155013
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	SNV Germline	Chr19:46756837	Pathogenic/Likely pathogenic	Muscular dystrophy Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 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 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA116728	rs_121908110	12 SubmittersRCV000194089 RCV000178346 RCV000540601 RCV001254718 RCV001273521 RCV002226441 RCV002490307 RCV003114175 RCV003460429 RCV004018553
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)	SNV Germline	Chr3:49721835	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Condition: not provided Abnormality of the musculature Inborn genetic diseases GMPPB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144551	rs_397509422	11 SubmittersRCV000054432 RCV000054433 RCV000651273 RCV000788090 RCV001836725 RCV002513710 RCV004549480
NM_021971.4(GMPPB):c.220C>T (p.Arg74Ter)	SNV Germline	Chr3:49723293	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	No Assertion Criteria Provided	CA144554	rs_397509423	1 SubmittersRCV000054434
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)	SNV Germline	Chr3:49722604	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144560	rs_397509425	7 SubmittersRCV000054436 RCV000054437 RCV000200261 RCV000503216 RCV000623944 RCV001781385
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu)	SNV Germline	Chr3:49723632	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Multiple Submitters No Conflicts	CA090934	rs_397509426	5 SubmittersRCV000054438 RCV000209926 RCV000493576 RCV000684892
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)	SNV Germline	Chr3:49722056	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Condition: not provided Abnormality of the musculature Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 GMPPB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA090892	rs_202160208	21 SubmittersRCV000054439 RCV000209893 RCV000553832 RCV000520160 RCV001814035 RCV001266808 RCV001542745 RCV003407434
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)	SNV Germline	Chr3:49723648	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Inborn genetic diseases GMPPB-related disorder Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Multiple Submitters No Conflicts	CA144567	rs_142336618	16 SubmittersRCV000054440 RCV000444697 RCV000533184 RCV000610921 RCV001331794 RCV002513711 RCV003421962 RCV003388824
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)	SNV Germline	Chr3:49721847	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided Muscular dystrophy-dystroglycanopathy Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Multiple Submitters No Conflicts	CA144570	rs_199922550	9 SubmittersRCV000054441 RCV000440664 RCV000501778 RCV000623470 RCV000651278 RCV001330455
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	SNV Germline	Chr9:131513243	Pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Limb-girdle muscular dystrophy due to POMK deficiency Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222989	rs_200056620	11 SubmittersRCV000081477 RCV000578428 RCV000686940 RCV002288580 RCV002498428 RCV003460755 RCV004689449
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	SNV Germline	Chr9:131506123	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 not specified Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 POMT1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA222993	rs_398124244	8 SubmittersRCV001376971 RCV002477237 RCV003155069 RCV003474682 RCV004529856 RCV000177268
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)	SNV Germline	Chr9:131519401	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Intellectual disability not specified	Criteria Provided Conflicting Classifications	CA206170	rs_117985576	17 SubmittersRCV000443667 RCV000515174 RCV001166758 RCV001085429 RCV001332898 RCV001252355 RCV000192982
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)	SNV Germline	Chr9:131510287	Pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Myopathy caused by variation in POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA223003	rs_398124247	7 SubmittersRCV000081494 RCV002513831 RCV003314560 RCV003474683
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)	SNV Germline	Chr9:131510312	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 POMT1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA223005	rs_139660235	7 SubmittersRCV000764803 RCV001328597 RCV001341723 RCV004542790 RCV000081495
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)	SNV Germline	Chr14:77320450	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2N Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N not specified POMT2-related disorder	Criteria Provided Conflicting Classifications	CA223080	rs_151103906	8 SubmittersRCV000303743 RCV000712838 RCV000765180 RCV001084326 RCV001705757 RCV003952518
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)	SNV Germline	Chr22:33650564	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 Condition: not provided Muscular dystrophy Muscular dystrophy-dystroglycanopathy type B6 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy type B6 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	Criteria Provided Conflicting Classifications	CA172466	rs_116164106	9 SubmittersRCV000379599 RCV000710160 RCV000146258 RCV000555307 RCV000765632
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)	SNV Germline	Chr14:77286815	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	Criteria Provided Multiple Submitters No Conflicts	CA295434	rs_727502855	7 SubmittersRCV000699248 RCV001731484 RCV000594145 RCV001004950 RCV002498687 RCV003474801
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	SNV Germline	Chr9:105604256	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA233995	rs_537001725	9 SubmittersRCV000153239 RCV000984176 RCV001068213 RCV002492573 RCV003474809
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)	SNV Germline	Chr9:131521445	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA211187	rs_794727208	5 SubmittersRCV000175325 RCV000704810 RCV003474928
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)	SNV Germline	Chr9:131522113	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA278501	rs_149682171	4 SubmittersRCV000175455 RCV000648152 RCV004567380
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)	SNV Germline	Chr14:77278858	Conflicting classifications of pathogenicity	not specified Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N	Criteria Provided Conflicting Classifications	CA241216	rs_142299878	7 SubmittersRCV000175458 RCV000712836 RCV000543953 RCV000763950
NM_001077365.2(POMT1):c.2004-1G>C	SNV Germline	Chr9:131522931	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA278505	rs_745738628	2 SubmittersRCV000176087 RCV003474929
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)	SNV Germline	Chr9:131523025	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA211189	rs_138902646	5 SubmittersRCV000176088 RCV000535678 RCV003462281
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)	SNV Germline	Chr19:46756036	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I 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 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA245426	rs_759875552	6 SubmittersRCV000178354 RCV000548844 RCV000674993 RCV002492782 RCV003993861 RCV004619208
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)	SNV Germline	Chr19:46756397	Pathogenic/Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA245436	rs_752582904	4 SubmittersRCV000263428 RCV001065681 RCV002500502 RCV003462286
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)	SNV Germline	Chr9:131509761	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA278543	rs_772370177	2 SubmittersRCV000192686 RCV002517157
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	SNV Germline	Chr9:105604452	Pathogenic	Walker-Warburg congenital muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M	Criteria Provided Multiple Submitters No Conflicts	CA5170446	rs_746763506	8 SubmittersRCV000234557 RCV000255310 RCV000490403 RCV000590733 RCV001594387 RCV002503833
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)	SNV Germline	Chr3:49722057	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2405424	rs_142908436	6 SubmittersRCV000211126 RCV000609930 RCV000698947 RCV001508147
NM_021971.4(GMPPB):c.760G>A (p.Val254Met)	SNV Germline	Chr3:49722239	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T	Criteria Provided Multiple Submitters No Conflicts	CA10576144	rs_875989850	3 SubmittersRCV000211128 RCV000430158 RCV002515608
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)	SNV Germline	Chr9:105617977	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170538	rs_776639304	6 SubmittersRCV002494632 RCV000999196 RCV000234043 RCV003372658
NM_024301.5(FKRP):c.898G>A (p.Val300Met)	SNV Germline	Chr19:46756348	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy not specified Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided 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 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 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	Criteria Provided Conflicting Classifications	CA9532207	rs_563033008	16 SubmittersRCV000226616 RCV000398763 RCV000672226 RCV000726141 RCV000765453 RCV001731540 RCV003463680 RCV002374378 RCV003224238
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln)	SNV Germline	Chr3:49722271	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Conflicting Classifications	CA2405464	rs_749730219	2 SubmittersRCV000251834 RCV001226319
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)	SNV Germline	Chr19:46755995	Pathogenic	Condition: 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 Walker-Warburg congenital muscular dystrophy 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA9532164	rs_543163491	10 SubmittersRCV000336106 RCV000763055 RCV000810074 RCV000984175 RCV003463742 RCV004796149 RCV004992146
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)	SNV Germline	Chr9:105635106	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype FKTN-related disorder	Criteria Provided Conflicting Classifications	CA5170600	rs_146272618	6 SubmittersRCV000380549 RCV000766041 RCV001081484 RCV002365305 RCV004543026
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)	SNV Germline	Chr14:77311987	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N not specified Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	Criteria Provided Conflicting Classifications	CA10604988	rs_199719668	8 SubmittersRCV000285296 RCV000694010 RCV001778879 RCV002288961 RCV002503994 RCV003475906
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)	SNV Germline	Chr9:131510407	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5293451	rs_747506380	8 SubmittersRCV000712829 RCV000764805 RCV001041917 RCV003454804 RCV004021212
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)	SNV Germline	Chr3:49721787	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T GMPPB-related disorder	Criteria Provided Conflicting Classifications	CA2405359	rs_184127567	4 SubmittersRCV000726214 RCV001081525 RCV003930156
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)	SNV Germline	Chr19:46755906	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy not specified Condition: 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 Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Conflicting Classifications	CA9532153	rs_199714523	13 SubmittersRCV000464325 RCV000408156 RCV000710136 RCV000765452 RCV001275311 RCV002338856 RCV003224253
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)	SNV Germline	Chr19:46756354	Conflicting classifications of pathogenicity	Condition: not provided 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 Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9532208	rs_762283381	7 SubmittersRCV000356554 RCV000469653 RCV000765454 RCV001273518 RCV002374484
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)	SNV Germline	Chr9:105607874	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Condition: not provided not specified Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Autosomal recessive limb-girdle muscular dystrophy type 2M	Criteria Provided Conflicting Classifications	CA5170471	rs_373418195	8 SubmittersRCV000700000 RCV000726450 RCV002229751 RCV002480051
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)	SNV Germline	Chr9:105615317	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 FKTN-related disorder	Criteria Provided Conflicting Classifications	CA5170500	rs_558187116	11 SubmittersRCV000263255 RCV000526522 RCV001169710 RCV001169711 RCV002429237 RCV002487283 RCV004734947
NM_001077365.2(POMT1):c.1486+14G>A	SNV Germline	Chr9:131518971	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K not specified Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA5293718	rs_142995404	4 SubmittersRCV000329347 RCV000429135 RCV001334644 RCV002058780
NM_021971.4(GMPPB):c.952-14A>G	SNV Germline	Chr3:49721897	Conflicting classifications of pathogenicity	not specified Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T	Criteria Provided Conflicting Classifications	CA2405383	rs_747845961	3 SubmittersRCV000413124 RCV003133248 RCV002058865
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)	SNV Germline	Chr19:46755778	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy 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 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Conflicting Classifications	CA9532143	rs_758759348	8 SubmittersRCV000459145 RCV000765451 RCV000991999 RCV001272539 RCV002446816 RCV003463910
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)	SNV Germline	Chr9:131521439	Pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA5293823	rs_761848742	3 SubmittersRCV000487062 RCV002525809 RCV003464000
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)	SNV Germline	Chr3:49721985	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2405407	rs_371188899	5 SubmittersRCV000522572 RCV000529420 RCV000624021
NM_021971.4(GMPPB):c.640+1G>C	SNV Germline	Chr3:49722431	Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Multiple Submitters No Conflicts	CA2405494	rs_141588721	2 SubmittersRCV000523645 RCV004820857
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)	SNV Germline	Chr9:131518533	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375311567	rs_1554780670	2 SubmittersRCV000548536 RCV003476298
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)	SNV Germline	Chr9:131518862	Pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA5293687	rs_746849558	2 SubmittersRCV000558807 RCV003459248
NM_001079802.2(FKTN):c.648-1243G>T	SNV Germline	Chr9:105606576	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA658683548	rs_1554754182	4 SubmittersRCV000587372 RCV000763612 RCV001217950 RCV003471945
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)	SNV Germline	Chr14:77320453	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7286258	rs_200992827	7 SubmittersRCV000648181 RCV000712837 RCV002476283 RCV004024714
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)	SNV Germline	Chr9:131506188	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 POMT1-related congenital myopathy	Criteria Provided Conflicting Classifications	CA5293180	rs_757903559	7 SubmittersRCV000591710 RCV000819538 RCV002532650 RCV003459474 RCV004586824
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)	SNV Germline	Chr9:131512044	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375308747	rs_765230689	4 SubmittersRCV000595731 RCV000763189 RCV003767405 RCV003471965
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)	SNV Germline	Chr9:131515460	Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375309889	rs_1554778005	2 SubmittersRCV000627277 RCV003459477
NM_001077365.2(POMT1):c.605+1G>C	SNV Germline	Chr9:131509809	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375307262	rs_766648827	2 SubmittersRCV000648156 RCV003459544
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)	SNV Germline	Chr9:131518502	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293658	rs_752384050	5 SubmittersRCV000648158 RCV000733057 RCV004594087 RCV004544878
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)	SNV Germline	Chr19:46756378	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy 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 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts		rs_765885747	8 SubmittersRCV000665088 RCV000760366 RCV001055645 RCV002369793 RCV002499146 RCV003226352 RCV003465438
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)	SNV Germline	Chr19:46756228	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts		rs_1555738753	4 SubmittersRCV000669672 RCV001855524 RCV002499167 RCV003459613
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)	SNV Germline	Chr19:46755716	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Condition: 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts		rs_770711331	7 SubmittersRCV000665956 RCV000700227 RCV001784236 RCV002499150 RCV004993923 RCV004568497
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His)	SNV Germline	Chr3:49721765	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Condition: not provided	Criteria Provided Conflicting Classifications		rs_771861177	2 SubmittersRCV000705475 RCV004719967
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys)	SNV Germline	Chr3:49721880	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T	Criteria Provided Single Submitter		rs_780867515	1 SubmittersRCV000690678
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala)	SNV Germline	Chr3:49721882	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Conflicting Classifications		rs_559784211	4 SubmittersRCV000691392 RCV003128645 RCV003140092
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)	SNV Germline	Chr3:49722343	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 GMPPB-related disorder Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts		rs_761714818	7 SubmittersRCV000698360 RCV001784331 RCV001542746 RCV004547864 RCV001814219
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)	SNV Germline	Chr3:49722126	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T	Criteria Provided Single Submitter		rs_763971677	1 SubmittersRCV000692931
NM_021971.4(GMPPB):c.525G>T (p.Met175Ile)	SNV Germline	Chr3:49722632	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided	Criteria Provided Conflicting Classifications		rs_147966522	3 SubmittersRCV000693068 RCV000729679
NM_021971.4(GMPPB):c.402+1G>A	SNV Germline	Chr3:49722971	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T	Criteria Provided Single Submitter		rs_145564018	1 SubmittersRCV000690893
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)	SNV Germline	Chr19:46756813	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype 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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_747785577	5 SubmittersRCV000700840 RCV001825376 RCV002386242 RCV002485723 RCV003222112
NM_001077365.2(POMT1):c.699+67G>A	SNV Germline	Chr9:131510063	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_776061161	4 SubmittersRCV000729095 RCV001379440 RCV002282347 RCV003465659
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)	SNV Germline	Chr9:131512069	Pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_756973046	3 SubmittersRCV000734638 RCV003465669
NM_001077365.2(POMT1):c.1698+1G>A	SNV Germline	Chr9:131520194	Conflicting classifications of pathogenicity	POMT1-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications		rs_763586263	6 SubmittersRCV000778149 RCV001040545 RCV002469286 RCV001784380 RCV003461048
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)	SNV Germline	Chr3:49722699	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_202013297	5 SubmittersRCV000815814 RCV000993849 RCV001592967
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys)	SNV Germline	Chr3:49722979	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided	Criteria Provided Conflicting Classifications		rs_145535498	3 SubmittersRCV000793053 RCV001759493
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter)	SNV Germline	Chr3:49723618	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T	Criteria Provided Single Submitter		rs_1348189028	1 SubmittersRCV000801856
NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser)	SNV Germline	Chr3:49723633	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided	Criteria Provided Conflicting Classifications		rs_1575297292	2 SubmittersRCV000810959 RCV002282374
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)	SNV Germline	Chr19:46756383	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Conflicting Classifications		rs_911700598	3 SubmittersRCV000813120 RCV002372288 RCV002478891
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)	SNV Germline	Chr19:46756746	Pathogenic/Likely pathogenic	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	Criteria Provided Multiple Submitters No Conflicts		rs_1599939853	2 SubmittersRCV000810942 RCV002507413
NM_021971.4(GMPPB):c.640+1G>A	SNV Germline	Chr3:49722431	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 GMPPB-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_141588721	4 SubmittersRCV000794094 RCV001568224 RCV003223413 RCV004782552
NM_001077365.2(POMT1):c.280+1G>T	SNV Germline	Chr9:131506454	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Multiple Submitters No Conflicts		rs_746823238	7 SubmittersRCV000853233 RCV001683668 RCV001869305
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys)	SNV Germline	Chr3:49722135	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided	Criteria Provided Conflicting Classifications		rs_746357591	3 SubmittersRCV001054940 RCV003106106
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp)	SNV Germline	Chr3:49722272	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Condition: not provided	Criteria Provided Conflicting Classifications		rs_771028755	2 SubmittersRCV001036720 RCV002251546
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)	SNV Germline	Chr9:105607937	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_377417974	4 SubmittersRCV001044487 RCV002479277 RCV003473630 RCV004994200
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)	SNV Germline	Chr9:131506437	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_1945827957	2 SubmittersRCV001228965 RCV004570568
NM_024301.5(FKRP):c.633G>A (p.Ser211=)	SNV Germline	Chr19:46756083	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I 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	Criteria Provided Conflicting Classifications		rs_921883036	4 SubmittersRCV001226232 RCV001828806 RCV004032565 RCV002484228
NM_001077365.2(POMT1):c.229+2T>C	SNV Germline	Chr9:131506222	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_1945782278	2 SubmittersRCV001225759 RCV003473785
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)	SNV Germline	Chr19:46755655	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I 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	Criteria Provided Conflicting Classifications		rs_990847012	5 SubmittersRCV001295759 RCV001830129 RCV002418887 RCV002493553
NM_021971.4(GMPPB):c.769-2A>G	SNV Germline	Chr3:49722149	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T	Criteria Provided Single Submitter		rs_2080423660	1 SubmittersRCV001377618
NM_001077365.2(POMT1):c.1176-2A>G	SNV Germline	Chr9:131515424	Likely pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_746523421	3 SubmittersRCV001377161 RCV001780280 RCV003462945
NM_021971.4(GMPPB):c.951+7C>A	SNV Germline	Chr3:49721958	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Condition: not provided	Criteria Provided Conflicting Classifications		rs_973900671	2 SubmittersRCV001410594 RCV001751759
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)	SNV Germline	Chr9:131515505	Pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_745509085	2 SubmittersRCV001449743 RCV003474001
NM_001077365.2(POMT1):c.1272+1G>A	SNV Germline	Chr9:131515523	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_2131751359	3 SubmittersRCV001553600 RCV003474006 RCV003771694
NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu)	SNV Germline	Chr3:49723636	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T	Criteria Provided Single Submitter		rs_764625823	1 SubmittersRCV001991893
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)	SNV Germline	Chr9:131504315	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_759848847	2 SubmittersRCV001893866 RCV003475152
NM_021971.4(GMPPB):c.859C>A (p.Arg287=)	SNV Germline	Chr3:49722057	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided	Criteria Provided Conflicting Classifications		rs_142908436	2 SubmittersRCV001947340 RCV004720955
NM_001077365.2(POMT1):c.699+67G>T	SNV Germline	Chr9:131510063	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_776061161	2 SubmittersRCV002033289 RCV003475110
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)	SNV Germline	Chr19:46756143	Conflicting classifications of pathogenicity	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 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Conflicting Classifications		rs_2122621481	4 SubmittersRCV002014233 RCV002479773 RCV003491014 RCV003471265
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)	SNV Germline	Chr9:131506121	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_1397478363	2 SubmittersRCV001949458 RCV003475244
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)	SNV Germline	Chr9:131507400	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts		rs_1289335417	2 SubmittersRCV002019789 RCV003464372
NM_001077365.2(POMT1):c.986+1G>A	SNV Germline	Chr9:131511468	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts		rs_961071228	4 SubmittersRCV002250254 RCV002496183 RCV003094035
NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg)	SNV Germline	Chr9:131518888	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter		rs_376882399	1 SubmittersRCV002267187
NM_001077365.2(POMT1):c.699+68T>C	SNV Germline	Chr9:131510064	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts		rs_759254028	4 SubmittersRCV002271903 RCV003464426 RCV004017915 RCV003774862
NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)	SNV Germline	Chr3:49722054	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002604254 RCV003134458
NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)	SNV Germline	Chr3:49723662	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Autosomal recessive limb-girdle muscular dystrophy type 2T	Criteria Provided Single Submitter			1 SubmittersRCV002856752
NM_021971.4(GMPPB):c.506A>G (p.Asn169Ser)	SNV Germline	Chr3:49722651	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002952773 RCV003134552
NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)	SNV Germline	Chr3:49721965	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T	Criteria Provided Single Submitter			1 SubmittersRCV003043757
NM_021971.4(GMPPB):c.952-12C>T	SNV Germline	Chr3:49721895	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Conflicting Classifications			2 SubmittersRCV003131039 RCV003778704
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)	SNV Germline	Chr9:131512054	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003463358 RCV003779070
NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)	SNV Unknown	Chr9:131509966	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter			1 SubmittersRCV003463365
NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)	SNV Unknown	Chr9:131521380	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter			1 SubmittersRCV003463367
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)	SNV Germline	Chr9:131506153	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003472483 RCV003779073
NM_001077365.2(POMT1):c.230-2A>G	SNV Unknown	Chr9:131506401	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter			1 SubmittersRCV003472484
NM_001077365.2(POMT1):c.699+24C>A	SNV Germline	Chr9:131510020	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003472488 RCV003779075
NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)	SNV Unknown	Chr9:131521428	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter			1 SubmittersRCV003472491
NM_001077365.2(POMT1):c.280G>T (p.Glu94Ter)	SNV Germline	Chr9:131506453	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter			1 SubmittersRCV003989918
NM_001077365.2(POMT1):c.230-2A>T	SNV Unknown	Chr9:131506401	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter			1 SubmittersRCV004574603
NM_001077365.2(POMT1):c.700-2A>G	SNV Unknown	Chr9:131510258	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter			1 SubmittersRCV004574604

NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)

SNV
Germline

Chr9:105604372

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Single Submitter

CA116061

rs_119463996

2 SubmittersRCV000003358 RCV000626166

NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)

SNV
Germline

Chr9:105617967

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Criteria Provided
Multiple Submitters
No Conflicts

CA116088

rs_267606814

13 SubmittersRCV000003371 RCV000498134 RCV000795218 RCV002444418 RCV002496242 RCV003466795 RCV004819203

NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)

SNV
Germline

Chr14:77278849

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252628

rs_119463989

5 SubmittersRCV000003373 RCV000336243 RCV002496243 RCV003230345

NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)

SNV
Germline

Chr14:77278764

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Condition: not provided
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
POMT2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116093

rs_200198778

11 SubmittersRCV000003377 RCV000003376 RCV000081569 RCV000193219 RCV000515301 RCV000648175 RCV003398429

NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)

SNV
Germline

Chr9:131506217

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Condition: not provided

Criteria Provided
Single Submitter

CA278040

rs_28941782

2 SubmittersRCV000003394 RCV001171882

NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)

SNV
Germline

Chr9:131510401

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Abnormality of the musculature
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

CA278042

rs_119462981

6 SubmittersRCV000003395 RCV001813941 RCV003231073 RCV003764521

NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)

SNV
Germline

Chr9:131509801

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided
Abnormality of the nervous system
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA203493

rs_119462982

11 SubmittersRCV000003399 RCV000179928 RCV001813942 RCV001385876 RCV001264826 RCV003234890 RCV003472966

NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)

SNV
Germline

Chr9:131506184

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA116108

rs_119462983

3 SubmittersRCV002512705 RCV002286389 RCV003460408

NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)

SNV
Germline

Chr9:131522160

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA116114

rs_119462987

7 SubmittersRCV000414180 RCV000694423 RCV002286394 RCV003460409

NM_001077365.2(POMT1):c.1175+1G>A

SNV
Germline

Chr9:131513332

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1051679985

3 SubmittersRCV001383583 RCV002286395 RCV003472967

NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)

SNV
Germline

Chr19:46756793

Pathogenic/Likely pathogenic

Condition: 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
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116699

rs_104894681

7 SubmittersRCV000360542 RCV000763056 RCV002381242 RCV002226440 RCV003466807 RCV003591620

NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)

SNV
Germline

Chr19:46756276

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy
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
Muscular dystrophy-dystroglycanopathy type B5
Limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
8 conditions
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Myopathy
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype
Myopathy caused by variation in FKRP
FKRP-related disorder
Neuronopathy, distal hereditary motor, type 2B
Nizon-Isidor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA116701

rs_28937900

45 SubmittersRCV000004442 RCV000082182 RCV000231711 RCV000503787 RCV000515332 RCV000612115 RCV000660622 RCV000626960 RCV001197775 RCV001329320 RCV001526640 RCV002222338 RCV002408451 RCV003993736 RCV004532287 RCV004776425 RCV004776426

NM_024301.5(FKRP):c.899T>C (p.Val300Ala)

SNV
Germline

Chr19:46756349

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Condition: 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 A1
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 (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116722

rs_104894691

14 SubmittersRCV000004453 RCV000814162 RCV000732974 RCV002371759 RCV002482826 RCV001813735 RCV003466810 RCV003155013

NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)

SNV
Germline

Chr19:46756837

Pathogenic/Likely pathogenic

Muscular dystrophy
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
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
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA116728

rs_121908110

12 SubmittersRCV000194089 RCV000178346 RCV000540601 RCV001254718 RCV001273521 RCV002226441 RCV002490307 RCV003114175 RCV003460429 RCV004018553

NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)

SNV
Germline

Chr3:49721835

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Condition: not provided
Abnormality of the musculature
Inborn genetic diseases
GMPPB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA144551

rs_397509422

11 SubmittersRCV000054432 RCV000054433 RCV000651273 RCV000788090 RCV001836725 RCV002513710 RCV004549480

NM_021971.4(GMPPB):c.220C>T (p.Arg74Ter)

SNV
Germline

Chr3:49723293

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

No Assertion Criteria Provided

CA144554

rs_397509423

1 SubmittersRCV000054434

NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)

SNV
Germline

Chr3:49722604

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144560

rs_397509425

7 SubmittersRCV000054436 RCV000054437 RCV000200261 RCV000503216 RCV000623944 RCV001781385

NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu)

SNV
Germline

Chr3:49723632

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Criteria Provided
Multiple Submitters
No Conflicts

CA090934

rs_397509426

5 SubmittersRCV000054438 RCV000209926 RCV000493576 RCV000684892

NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)

SNV
Germline

Chr3:49722056

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Condition: not provided
Abnormality of the musculature
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA090892

rs_202160208

21 SubmittersRCV000054439 RCV000209893 RCV000553832 RCV000520160 RCV001814035 RCV001266808 RCV001542745 RCV003407434

NM_021971.4(GMPPB):c.79G>C (p.Asp27His)

SNV
Germline

Chr3:49723648

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Inborn genetic diseases
GMPPB-related disorder
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Criteria Provided
Multiple Submitters
No Conflicts

CA144567

rs_142336618

16 SubmittersRCV000054440 RCV000444697 RCV000533184 RCV000610921 RCV001331794 RCV002513711 RCV003421962 RCV003388824

NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)

SNV
Germline

Chr3:49721847

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Criteria Provided
Multiple Submitters
No Conflicts

CA144570

rs_199922550

9 SubmittersRCV000054441 RCV000440664 RCV000501778 RCV000623470 RCV000651278 RCV001330455

NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)

SNV
Germline

Chr9:131513243

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222989

rs_200056620

11 SubmittersRCV000081477 RCV000578428 RCV000686940 RCV002288580 RCV002498428 RCV003460755 RCV004689449

NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)

SNV
Germline

Chr9:131506123

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
POMT1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA222993

rs_398124244

8 SubmittersRCV001376971 RCV002477237 RCV003155069 RCV003474682 RCV004529856 RCV000177268

NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)

SNV
Germline

Chr9:131519401

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Intellectual disability
not specified

Criteria Provided
Conflicting Classifications

CA206170

rs_117985576

17 SubmittersRCV000443667 RCV000515174 RCV001166758 RCV001085429 RCV001332898 RCV001252355 RCV000192982

NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)

SNV
Germline

Chr9:131510287

Pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Myopathy caused by variation in POMT1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA223003

rs_398124247

7 SubmittersRCV000081494 RCV002513831 RCV003314560 RCV003474683

NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)

SNV
Germline

Chr9:131510312

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
POMT1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA223005

rs_139660235

7 SubmittersRCV000764803 RCV001328597 RCV001341723 RCV004542790 RCV000081495

NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)

SNV
Germline

Chr14:77320450

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
not specified
POMT2-related disorder

Criteria Provided
Conflicting Classifications

CA223080

rs_151103906

8 SubmittersRCV000303743 RCV000712838 RCV000765180 RCV001084326 RCV001705757 RCV003952518

NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)

SNV
Germline

Chr22:33650564

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Condition: not provided
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy type B6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

Criteria Provided
Conflicting Classifications

CA172466

rs_116164106

9 SubmittersRCV000379599 RCV000710160 RCV000146258 RCV000555307 RCV000765632

NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)

SNV
Germline

Chr14:77286815

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA295434

rs_727502855

7 SubmittersRCV000699248 RCV001731484 RCV000594145 RCV001004950 RCV002498687 RCV003474801

NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)

SNV
Germline

Chr9:105604256

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA233995

rs_537001725

9 SubmittersRCV000153239 RCV000984176 RCV001068213 RCV002492573 RCV003474809

NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)

SNV
Germline

Chr9:131521445

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA211187

rs_794727208

5 SubmittersRCV000175325 RCV000704810 RCV003474928

NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)

SNV
Germline

Chr9:131522113

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA278501

rs_149682171

4 SubmittersRCV000175455 RCV000648152 RCV004567380

NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)

SNV
Germline

Chr14:77278858

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA241216

rs_142299878

7 SubmittersRCV000175458 RCV000712836 RCV000543953 RCV000763950

NM_001077365.2(POMT1):c.2004-1G>C

SNV
Germline

Chr9:131522931

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA278505

rs_745738628

2 SubmittersRCV000176087 RCV003474929

NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)

SNV
Germline

Chr9:131523025

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA211189

rs_138902646

5 SubmittersRCV000176088 RCV000535678 RCV003462281

NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)

SNV
Germline

Chr19:46756036

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245426

rs_759875552

6 SubmittersRCV000178354 RCV000548844 RCV000674993 RCV002492782 RCV003993861 RCV004619208

NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)

SNV
Germline

Chr19:46756397

Pathogenic/Likely pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA245436

rs_752582904

4 SubmittersRCV000263428 RCV001065681 RCV002500502 RCV003462286

NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)

SNV
Germline

Chr9:131509761

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA278543

rs_772370177

2 SubmittersRCV000192686 RCV002517157

NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)

SNV
Germline

Chr9:105604452

Pathogenic

Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M

Criteria Provided
Multiple Submitters
No Conflicts

CA5170446

rs_746763506

8 SubmittersRCV000234557 RCV000255310 RCV000490403 RCV000590733 RCV001594387 RCV002503833

NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)

SNV
Germline

Chr3:49722057

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2405424

rs_142908436

6 SubmittersRCV000211126 RCV000609930 RCV000698947 RCV001508147

NM_021971.4(GMPPB):c.760G>A (p.Val254Met)

SNV
Germline

Chr3:49722239

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA10576144

rs_875989850

3 SubmittersRCV000211128 RCV000430158 RCV002515608

NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)

SNV
Germline

Chr9:105617977

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5170538

rs_776639304

6 SubmittersRCV002494632 RCV000999196 RCV000234043 RCV003372658

NM_024301.5(FKRP):c.898G>A (p.Val300Met)

SNV
Germline

Chr19:46756348

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
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
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
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

Criteria Provided
Conflicting Classifications

CA9532207

rs_563033008

16 SubmittersRCV000226616 RCV000398763 RCV000672226 RCV000726141 RCV000765453 RCV001731540 RCV003463680 RCV002374378 RCV003224238

NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln)

SNV
Germline

Chr3:49722271

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Criteria Provided
Conflicting Classifications

CA2405464

rs_749730219

2 SubmittersRCV000251834 RCV001226319

NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)

SNV
Germline

Chr19:46755995

Pathogenic

Condition: 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
Walker-Warburg congenital muscular dystrophy
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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA9532164

rs_543163491

10 SubmittersRCV000336106 RCV000763055 RCV000810074 RCV000984175 RCV003463742 RCV004796149 RCV004992146

NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)

SNV
Germline

Chr9:105635106

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA5170600

rs_146272618

6 SubmittersRCV000380549 RCV000766041 RCV001081484 RCV002365305 RCV004543026

NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)

SNV
Germline

Chr14:77311987

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA10604988

rs_199719668

8 SubmittersRCV000285296 RCV000694010 RCV001778879 RCV002288961 RCV002503994 RCV003475906

NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)

SNV
Germline

Chr9:131510407

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5293451

rs_747506380

8 SubmittersRCV000712829 RCV000764805 RCV001041917 RCV003454804 RCV004021212

NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)

SNV
Germline

Chr3:49721787

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB-related disorder

Criteria Provided
Conflicting Classifications

CA2405359

rs_184127567

4 SubmittersRCV000726214 RCV001081525 RCV003930156

NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)

SNV
Germline

Chr19:46755906

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
not specified
Condition: 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
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA9532153

rs_199714523

13 SubmittersRCV000464325 RCV000408156 RCV000710136 RCV000765452 RCV001275311 RCV002338856 RCV003224253

NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)

SNV
Germline

Chr19:46756354

Conflicting classifications of pathogenicity

Condition: not provided
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
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9532208

rs_762283381

7 SubmittersRCV000356554 RCV000469653 RCV000765454 RCV001273518 RCV002374484

NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)

SNV
Germline

Chr9:105607874

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Condition: not provided
not specified
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Autosomal recessive limb-girdle muscular dystrophy type 2M

Criteria Provided
Conflicting Classifications

CA5170471

rs_373418195

8 SubmittersRCV000700000 RCV000726450 RCV002229751 RCV002480051

NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)

SNV
Germline

Chr9:105615317

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA5170500

rs_558187116

11 SubmittersRCV000263255 RCV000526522 RCV001169710 RCV001169711 RCV002429237 RCV002487283 RCV004734947

NM_001077365.2(POMT1):c.1486+14G>A

SNV
Germline

Chr9:131518971

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293718

rs_142995404

4 SubmittersRCV000329347 RCV000429135 RCV001334644 RCV002058780

NM_021971.4(GMPPB):c.952-14A>G

SNV
Germline

Chr3:49721897

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Conflicting Classifications

CA2405383

rs_747845961

3 SubmittersRCV000413124 RCV003133248 RCV002058865

NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)

SNV
Germline

Chr19:46755778

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
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
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Conflicting Classifications

CA9532143

rs_758759348

8 SubmittersRCV000459145 RCV000765451 RCV000991999 RCV001272539 RCV002446816 RCV003463910

NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr9:131521439

Pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA5293823

rs_761848742

3 SubmittersRCV000487062 RCV002525809 RCV003464000

NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)

SNV
Germline

Chr3:49721985

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2405407

rs_371188899

5 SubmittersRCV000522572 RCV000529420 RCV000624021

NM_021971.4(GMPPB):c.640+1G>C

SNV
Germline

Chr3:49722431

Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Criteria Provided
Multiple Submitters
No Conflicts

CA2405494

rs_141588721

2 SubmittersRCV000523645 RCV004820857

NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)

SNV
Germline

Chr9:131518533

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375311567

rs_1554780670

2 SubmittersRCV000548536 RCV003476298

NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)

SNV
Germline

Chr9:131518862

Pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA5293687

rs_746849558

2 SubmittersRCV000558807 RCV003459248

NM_001079802.2(FKTN):c.648-1243G>T

SNV
Germline

Chr9:105606576

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA658683548

rs_1554754182

4 SubmittersRCV000587372 RCV000763612 RCV001217950 RCV003471945

NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)

SNV
Germline

Chr14:77320453

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7286258

rs_200992827

7 SubmittersRCV000648181 RCV000712837 RCV002476283 RCV004024714

NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)

SNV
Germline

Chr9:131506188

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
POMT1-related congenital myopathy

Criteria Provided
Conflicting Classifications

CA5293180

rs_757903559

7 SubmittersRCV000591710 RCV000819538 RCV002532650 RCV003459474 RCV004586824

NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)

SNV
Germline

Chr9:131512044

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375308747

rs_765230689

4 SubmittersRCV000595731 RCV000763189 RCV003767405 RCV003471965

NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)

SNV
Germline

Chr9:131515460

Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375309889

rs_1554778005

2 SubmittersRCV000627277 RCV003459477

NM_001077365.2(POMT1):c.605+1G>C

SNV
Germline

Chr9:131509809

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375307262

rs_766648827

2 SubmittersRCV000648156 RCV003459544

NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)

SNV
Germline

Chr9:131518502

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293658

rs_752384050

5 SubmittersRCV000648158 RCV000733057 RCV004594087 RCV004544878

NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)

SNV
Germline

Chr19:46756378

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Walker-Warburg congenital muscular dystrophy
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
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

rs_765885747

8 SubmittersRCV000665088 RCV000760366 RCV001055645 RCV002369793 RCV002499146 RCV003226352 RCV003465438

NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)

SNV
Germline

Chr19:46756228

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555738753

4 SubmittersRCV000669672 RCV001855524 RCV002499167 RCV003459613

NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)

SNV
Germline

Chr19:46755716

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Condition: 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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

rs_770711331

7 SubmittersRCV000665956 RCV000700227 RCV001784236 RCV002499150 RCV004993923 RCV004568497

NM_021971.4(GMPPB):c.1070G>A (p.Arg357His)

SNV
Germline

Chr3:49721765

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771861177

2 SubmittersRCV000705475 RCV004719967

NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys)

SNV
Germline

Chr3:49721880

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

rs_780867515

1 SubmittersRCV000690678

NM_021971.4(GMPPB):c.953T>C (p.Val318Ala)

SNV
Germline

Chr3:49721882

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Criteria Provided
Conflicting Classifications

rs_559784211

4 SubmittersRCV000691392 RCV003128645 RCV003140092

NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)

SNV
Germline

Chr3:49722343

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB-related disorder
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

rs_761714818

7 SubmittersRCV000698360 RCV001784331 RCV001542746 RCV004547864 RCV001814219

NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr3:49722126

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

rs_763971677

1 SubmittersRCV000692931

NM_021971.4(GMPPB):c.525G>T (p.Met175Ile)

SNV
Germline

Chr3:49722632

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147966522

3 SubmittersRCV000693068 RCV000729679

NM_021971.4(GMPPB):c.402+1G>A

SNV
Germline

Chr3:49722971

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

rs_145564018

1 SubmittersRCV000690893

NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)

SNV
Germline

Chr19:46756813

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747785577

5 SubmittersRCV000700840 RCV001825376 RCV002386242 RCV002485723 RCV003222112

NM_001077365.2(POMT1):c.699+67G>A

SNV
Germline

Chr9:131510063

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_776061161

4 SubmittersRCV000729095 RCV001379440 RCV002282347 RCV003465659

NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)

SNV
Germline

Chr9:131512069

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_756973046

3 SubmittersRCV000734638 RCV003465669

NM_001077365.2(POMT1):c.1698+1G>A

SNV
Germline

Chr9:131520194

Conflicting classifications of pathogenicity

POMT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

rs_763586263

6 SubmittersRCV000778149 RCV001040545 RCV002469286 RCV001784380 RCV003461048

NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)

SNV
Germline

Chr3:49722699

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_202013297

5 SubmittersRCV000815814 RCV000993849 RCV001592967

NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys)

SNV
Germline

Chr3:49722979

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145535498

3 SubmittersRCV000793053 RCV001759493

NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter)

SNV
Germline

Chr3:49723618

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

rs_1348189028

1 SubmittersRCV000801856

NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser)

SNV
Germline

Chr3:49723633

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1575297292

2 SubmittersRCV000810959 RCV002282374

NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)

SNV
Germline

Chr19:46756383

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Conflicting Classifications

rs_911700598

3 SubmittersRCV000813120 RCV002372288 RCV002478891

NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)

SNV
Germline

Chr19:46756746

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1599939853

2 SubmittersRCV000810942 RCV002507413

NM_021971.4(GMPPB):c.640+1G>A

SNV
Germline

Chr3:49722431

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_141588721

4 SubmittersRCV000794094 RCV001568224 RCV003223413 RCV004782552

NM_001077365.2(POMT1):c.280+1G>T

SNV
Germline

Chr9:131506454

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

rs_746823238

7 SubmittersRCV000853233 RCV001683668 RCV001869305

NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys)

SNV
Germline

Chr3:49722135

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_746357591

3 SubmittersRCV001054940 RCV003106106

NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp)

SNV
Germline

Chr3:49722272

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771028755

2 SubmittersRCV001036720 RCV002251546

NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)

SNV
Germline

Chr9:105607937

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_377417974

4 SubmittersRCV001044487 RCV002479277 RCV003473630 RCV004994200

NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)

SNV
Germline

Chr9:131506437

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1945827957

2 SubmittersRCV001228965 RCV004570568

NM_024301.5(FKRP):c.633G>A (p.Ser211=)

SNV
Germline

Chr19:46756083

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
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

Criteria Provided
Conflicting Classifications

rs_921883036

4 SubmittersRCV001226232 RCV001828806 RCV004032565 RCV002484228

NM_001077365.2(POMT1):c.229+2T>C

SNV
Germline

Chr9:131506222

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1945782278

2 SubmittersRCV001225759 RCV003473785

NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)

SNV
Germline

Chr19:46755655

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
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

Criteria Provided
Conflicting Classifications

rs_990847012

5 SubmittersRCV001295759 RCV001830129 RCV002418887 RCV002493553

NM_021971.4(GMPPB):c.769-2A>G

SNV
Germline

Chr3:49722149

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

rs_2080423660

1 SubmittersRCV001377618

NM_001077365.2(POMT1):c.1176-2A>G

SNV
Germline

Chr9:131515424

Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_746523421

3 SubmittersRCV001377161 RCV001780280 RCV003462945

NM_021971.4(GMPPB):c.951+7C>A

SNV
Germline

Chr3:49721958

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_973900671

2 SubmittersRCV001410594 RCV001751759

NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)

SNV
Germline

Chr9:131515505

Pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_745509085

2 SubmittersRCV001449743 RCV003474001

NM_001077365.2(POMT1):c.1272+1G>A

SNV
Germline

Chr9:131515523

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131751359

3 SubmittersRCV001553600 RCV003474006 RCV003771694

NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu)

SNV
Germline

Chr3:49723636

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

rs_764625823

1 SubmittersRCV001991893

NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)

SNV
Germline

Chr9:131504315

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_759848847

2 SubmittersRCV001893866 RCV003475152

NM_021971.4(GMPPB):c.859C>A (p.Arg287=)

SNV
Germline

Chr3:49722057

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142908436

2 SubmittersRCV001947340 RCV004720955

NM_001077365.2(POMT1):c.699+67G>T

SNV
Germline

Chr9:131510063

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_776061161

2 SubmittersRCV002033289 RCV003475110

NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)

SNV
Germline

Chr19:46756143

Conflicting classifications of pathogenicity

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
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Conflicting Classifications

rs_2122621481

4 SubmittersRCV002014233 RCV002479773 RCV003491014 RCV003471265

NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)

SNV
Germline

Chr9:131506121

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1397478363

2 SubmittersRCV001949458 RCV003475244

NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)

SNV
Germline

Chr9:131507400

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1289335417

2 SubmittersRCV002019789 RCV003464372

NM_001077365.2(POMT1):c.986+1G>A

SNV
Germline

Chr9:131511468

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

rs_961071228

4 SubmittersRCV002250254 RCV002496183 RCV003094035

NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg)

SNV
Germline

Chr9:131518888

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Single Submitter

rs_376882399

1 SubmittersRCV002267187

NM_001077365.2(POMT1):c.699+68T>C

SNV
Germline

Chr9:131510064

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

rs_759254028

4 SubmittersRCV002271903 RCV003464426 RCV004017915 RCV003774862

NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)

SNV
Germline

Chr3:49722054

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002604254 RCV003134458

NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)

SNV
Germline

Chr3:49723662

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

1 SubmittersRCV002856752

NM_021971.4(GMPPB):c.506A>G (p.Asn169Ser)

SNV
Germline

Chr3:49722651

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002952773 RCV003134552

NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)

SNV
Germline

Chr3:49721965

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

1 SubmittersRCV003043757

NM_021971.4(GMPPB):c.952-12C>T

SNV
Germline

Chr3:49721895

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003131039 RCV003778704

NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)

SNV
Germline

Chr9:131512054

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463358 RCV003779070

NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)

SNV
Unknown

Chr9:131509966

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Single Submitter

1 SubmittersRCV003463365

NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)

SNV
Unknown

Chr9:131521380

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Single Submitter

1 SubmittersRCV003463367

NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)

SNV
Germline

Chr9:131506153

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472483 RCV003779073

NM_001077365.2(POMT1):c.230-2A>G

SNV
Unknown

Chr9:131506401

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Single Submitter

1 SubmittersRCV003472484

NM_001077365.2(POMT1):c.699+24C>A

SNV
Germline

Chr9:131510020

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472488 RCV003779075

NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)

SNV
Unknown

Chr9:131521428

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Single Submitter

1 SubmittersRCV003472491

NM_001077365.2(POMT1):c.280G>T (p.Glu94Ter)

SNV
Germline

Chr9:131506453