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/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	Criteria Provided Multiple Submitters No Conflicts	CA116061	rs_119463996	3 SubmittersRCV000003358 RCV000626166 RCV005409594
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)	SNV Germline	Chr9:131506217	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278040	rs_28941782	3 SubmittersRCV000003394 RCV001171882 RCV005055501
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 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA203493	rs_119462982	12 SubmittersRCV000003399 RCV000179928 RCV001813942 RCV001385876 RCV001264826 RCV003234890 RCV005357065 RCV003472966
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)	SNV Germline	Chr9:131506184	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 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	CA116108	rs_119462983	3 SubmittersRCV002286389 RCV002512705 RCV003460408
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)	SNV Germline	Chr9:131518945	Pathogenic	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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 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	CA116110	rs_119462985	5 SubmittersRCV000760355 RCV001851614 RCV002286390 RCV005041976
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	SNV Germline	Chr9:131522160	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA116114	rs_119462987	8 SubmittersRCV000414180 RCV000694423 RCV002286394 RCV003460409
NM_001077365.2(POMT1):c.1175+1G>A	SNV Germline	Chr9:131513332	Pathogenic	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 intellectual disability), type B1 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA200787505	rs_1051679985	4 SubmittersRCV001383583 RCV002286395 RCV005055502 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 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 A1 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 Cardiovascular phenotype 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 RCV002226440 RCV002381242 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 8 conditions Limb-girdle 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 type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Myopathy Autosomal recessive limb-girdle muscular dystrophy Cardiovascular phenotype FKRP-related disorder Myopathy caused by variation in FKRP Neuronopathy, distal hereditary motor, type 2B 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 Nizon-Isidor syndrome FKRP-related muscular dystrophy-dystroglycanopathy Hereditary skeletal muscle disorder	Criteria Provided Multiple Submitters No Conflicts	CA116701	rs_28937900	48 SubmittersRCV000004442 RCV000082182 RCV000231711 RCV000503787 RCV000626960 RCV000612115 RCV000660622 RCV001197775 RCV001329320 RCV001526640 RCV002222338 RCV002408451 RCV004532287 RCV003993736 RCV004776425 RCV005357072 RCV004776426 RCV005401279 RCV005624670
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 (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 Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Multiple Submitters No Conflicts	CA116722	rs_104894691	14 SubmittersRCV000004453 RCV000814162 RCV000732974 RCV002371759 RCV001813735 RCV003466810 RCV003155013 RCV005003334
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 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 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	13 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 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 Abnormality of the musculature Inborn genetic diseases GMPPB-related disorder Limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA144551	rs_397509422	13 SubmittersRCV000054432 RCV000054433 RCV000651273 RCV000788090 RCV001836725 RCV002513710 RCV004549480 RCV005625254
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 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	CA090934	rs_397509426	5 SubmittersRCV000054438 RCV000209926 RCV000684892 RCV000493576
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 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 Autosomal recessive limb-girdle muscular dystrophy type 2T Inborn genetic diseases Condition: not provided GMPPB-related disorder Abnormality of the musculature Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Multiple Submitters No Conflicts	CA090892	rs_202160208	22 SubmittersRCV000054439 RCV000553832 RCV000209893 RCV001266808 RCV000520160 RCV003407434 RCV001814035 RCV001542745
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)	SNV Germline	Chr3:49723648	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy 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-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Inborn genetic diseases GMPPB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144567	rs_142336618	17 SubmittersRCV000054440 RCV000610921 RCV000444697 RCV000533184 RCV003388824 RCV001331794 RCV002513711 RCV003421962
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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 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	Criteria Provided Multiple Submitters No Conflicts	CA144570	rs_199922550	9 SubmittersRCV000054441 RCV000440664 RCV000501778 RCV001330455 RCV000623470 RCV000651278
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)	SNV Germline	Chr9:105575073	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy 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 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA221461	rs_149033995	8 SubmittersRCV000079435 RCV000634064 RCV002504991 RCV004019537
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 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Limb-girdle muscular dystrophy due to POMK deficiency Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA222989	rs_200056620	11 SubmittersRCV000081477 RCV000578428 RCV000686940 RCV002288580 RCV004689449 RCV002498428 RCV003460755
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	SNV Germline	Chr9:131506123	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy POMT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA222993	rs_398124244	8 SubmittersRCV000177268 RCV001376971 RCV002477237 RCV003474682 RCV005431467 RCV004529856
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)	SNV Germline	Chr9:131519401	Conflicting classifications of pathogenicity	not specified 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 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 Intellectual disability Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA206170	rs_117985576	17 SubmittersRCV000192982 RCV000443667 RCV000515174 RCV001085429 RCV001332898 RCV001252355 RCV001166758
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	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 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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA223005	rs_139660235	7 SubmittersRCV000081495 RCV000764803 RCV001341723 RCV001328597 RCV004542790
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 A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N not 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 Muscular dystrophy-dystroglycanopathy type B6 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 Muscular dystrophy-dystroglycanopathy type B6 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA172466	rs_116164106	9 SubmittersRCV000146258 RCV000379599 RCV000555307 RCV000710160 RCV000765632
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)	SNV Germline	Chr9:105575057	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	Criteria Provided Conflicting Classifications	CA295350	rs_145387221	9 SubmittersRCV000735003 RCV001243305 RCV002426707 RCV002483297
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	SNV Germline	Chr19:46756523	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy Cardiovascular phenotype FKRP-related disorder Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA234007	rs_143031195	14 SubmittersRCV000473789 RCV000657079 RCV001336093 RCV001838983 RCV002288663 RCV002298484 RCV002415648 RCV004734719 RCV005359326
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 with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M 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 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	CA211187	rs_794727208	6 SubmittersRCV000175325 RCV000704810 RCV003474928
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)	SNV Germline	Chr9:131522113	Conflicting classifications of pathogenicity	Condition: not provided 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 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	Criteria Provided Conflicting Classifications	CA278501	rs_149682171	7 SubmittersRCV000175455 RCV000648152 RCV005406892 RCV004567380 RCV005049457
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)	SNV Germline	Chr14:77278858	Conflicting classifications of pathogenicity	not specified 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 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 RCV000543953 RCV000712836 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 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA211189	rs_138902646	6 SubmittersRCV000176088 RCV000535678 RCV005042377 RCV003462281
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)	SNV Germline	Chr19:46756036	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA245426	rs_759875552	6 SubmittersRCV000178354 RCV000674993 RCV002492782 RCV000548844 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy	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 with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA5170446	rs_746763506	9 SubmittersRCV000234557 RCV000255310 RCV000490403 RCV000590733 RCV001594387 RCV002503833 RCV005404398
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)	SNV Germline	Chr3:49722057	Pathogenic	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 Muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2405424	rs_142908436	6 SubmittersRCV000211126 RCV000698947 RCV000609930 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 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	CA10576144	rs_875989850	3 SubmittersRCV000211128 RCV000430158 RCV002515608
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)	SNV Germline	Chr9:105617977	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Condition: not provided Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170538	rs_776639304	6 SubmittersRCV000234043 RCV000999196 RCV002494632 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 type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy type B5 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	Criteria Provided Conflicting Classifications	CA9532207	rs_563033008	17 SubmittersRCV000226616 RCV000398763 RCV000672226 RCV000726141 RCV000765453 RCV001731540 RCV002374378 RCV003224238 RCV003463680 RCV005252831
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln)	SNV Germline	Chr3:49722271	Conflicting classifications of pathogenicity	not specified 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	CA2405464	rs_749730219	2 SubmittersRCV000251834 RCV001226319
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)	SNV Germline	Chr9:131521374	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided Inborn genetic diseases 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	Criteria Provided Conflicting Classifications	CA5293806	rs_144338642	7 SubmittersRCV000246533 RCV000332912 RCV000687622 RCV000725940 RCV002518638 RCV005396853
NM_024301.5(FKRP):c.731G>A (p.Arg244His)	SNV Germline	Chr19:46756181	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA9532194	rs_764641619	12 SubmittersRCV000457561 RCV000664793 RCV000331999 RCV000725201 RCV002379117 RCV005396872
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 Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X 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 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 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 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	Criteria Provided Conflicting Classifications	CA10604988	rs_199719668	9 SubmittersRCV000285296 RCV002288961 RCV003475906 RCV000694010 RCV001778879 RCV002503994
NM_001077365.2(POMT1):c.122+5G>A	SNV Germline	Chr9:131504345	Conflicting classifications of pathogenicity	Condition: not provided 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 intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA10605191	rs_376753193	3 SubmittersRCV000388581 RCV000648153 RCV005044534
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)	SNV Germline	Chr9:131510407	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA5293451	rs_747506380	8 SubmittersRCV000712829 RCV000764805 RCV001041917 RCV004021212 RCV003454804
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 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 Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Conflicting Classifications	CA9532153	rs_199714523	14 SubmittersRCV000464325 RCV000408156 RCV000710136 RCV000765452 RCV002338856 RCV003224253 RCV001275311
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)	SNV Germline	Chr19:46756354	Conflicting classifications of pathogenicity	Condition: not provided 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 Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy 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	CA9532208	rs_762283381	7 SubmittersRCV000356554 RCV000765454 RCV001273518 RCV000469653 RCV002374484 RCV005016682
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 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X not specified	Criteria Provided Conflicting Classifications	CA5170471	rs_373418195	8 SubmittersRCV000700000 RCV000726450 RCV002480051 RCV002229751
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 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X 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 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	CA2405383	rs_747845961	3 SubmittersRCV000413124 RCV002058865 RCV003133248
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)	SNV Germline	Chr19:46755778	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I 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 Condition: not provided 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA9532143	rs_758759348	9 SubmittersRCV000459145 RCV001272539 RCV000765451 RCV000991999 RCV002446816 RCV003463910 RCV005027515 RCV005239030
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)	SNV Germline	Chr9:131521439	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 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 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 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 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 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_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)	SNV Germline	Chr9:105635215	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170614	rs_374912618	8 SubmittersRCV000594573 RCV000634068 RCV000766042 RCV002384299
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)	SNV Germline	Chr9:131506188	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 POMT1-related congenital myopathy not specified	Criteria Provided Conflicting Classifications	CA5293180	rs_757903559	8 SubmittersRCV000819538 RCV000591710 RCV002532650 RCV003459474 RCV004586824 RCV005407785
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)	SNV Germline	Chr9:131512044	Pathogenic/Likely pathogenic	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 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	CA375308747	rs_765230689	4 SubmittersRCV000595731 RCV000763189 RCV003471965 RCV003767405
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	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 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 brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375307262	rs_766648827	3 SubmittersRCV000648156 RCV005046833 RCV003459544
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)	SNV Germline	Chr9:131518502	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided POMT1-related disorder Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA5293658	rs_752384050	5 SubmittersRCV000648158 RCV000733057 RCV004544878 RCV004594087
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 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA9532212	rs_765885747	8 SubmittersRCV000665088 RCV000760366 RCV001055645 RCV002499146 RCV002369793 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA406495998	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 type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA9532135	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	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	CA2405355	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	CA2405377	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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Condition: not provided	Criteria Provided Conflicting Classifications	CA2405379	rs_559784211	4 SubmittersRCV000691392 RCV003140092 RCV003128645
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)	SNV Germline	Chr3:49722343	Pathogenic/Likely pathogenic	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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Abnormality of the musculature Condition: not provided GMPPB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2405474	rs_761714818	7 SubmittersRCV000698360 RCV001542746 RCV001814219 RCV001784331 RCV004547864
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	CA2405433	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	CA2405533	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	CA74542195	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 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA9532302	rs_747785577	5 SubmittersRCV000700840 RCV001825376 RCV002386242 RCV002485723 RCV003222112
NM_001077365.2(POMT1):c.699+67G>A	SNV Germline	Chr9:131510063	Conflicting classifications of pathogenicity	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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293387	rs_776061161	5 SubmittersRCV000729095 RCV001379440 RCV002282347 RCV003465659 RCV005223149
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	CA5293502	rs_756973046	3 SubmittersRCV000734638 RCV003465669
NM_021971.4(GMPPB):c.490C>T (p.Gln164Ter)	SNV Germline	Chr3:49722667	Pathogenic	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	CA352828694	rs_1559697183	2 SubmittersRCV000760617 RCV005213382
NM_001077365.2(POMT1):c.1698+1G>A	SNV Germline	Chr9:131520194	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 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA5293772	rs_763586263	5 SubmittersRCV001040545 RCV001784380 RCV002469286 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Multiple Submitters No Conflicts	CA2405548	rs_202013297	7 SubmittersRCV000815814 RCV000993849 RCV001592967 RCV005253125
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	CA2405586	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 Autosomal recessive limb-girdle muscular dystrophy type 2T Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Single Submitter	CA352831347	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	CA352831442	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 (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	CA309099616	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 (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Multiple Submitters No Conflicts	CA406497073	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 GMPPB-related disorder Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Criteria Provided Multiple Submitters No Conflicts	CA2405495	rs_141588721	4 SubmittersRCV000794094 RCV001568224 RCV004782552 RCV003223413
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 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	CA5293206	rs_746823238	8 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	CA2405437	rs_746357591	3 SubmittersRCV001054940 RCV003106106
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp)	SNV Germline	Chr3:49722272	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	CA2405465	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 Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA5170477	rs_377417974	4 SubmittersRCV001044487 RCV003473630 RCV002479277 RCV004994200
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)	SNV Germline	Chr9:131506437	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	CA375305860	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 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	Criteria Provided Conflicting Classifications	CA309099387	rs_921883036	4 SubmittersRCV001226232 RCV001828806 RCV002484228 RCV004032565
NM_001077365.2(POMT1):c.229+2T>C	SNV Germline	Chr9:131506222	Likely pathogenic	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	CA375305773	rs_1945782278	2 SubmittersRCV001225759 RCV003473785
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)	SNV Germline	Chr19:46755655	Conflicting classifications of pathogenicity	Cardiovascular phenotype Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Conflicting Classifications	CA309099225	rs_990847012	5 SubmittersRCV002418887 RCV001295759 RCV001830129 RCV002493553
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln)	SNV Germline	Chr14:77278785	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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Condition: not provided 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	CA7285581	rs_770606360	6 SubmittersRCV001331801 RCV001871825 RCV003327506 RCV005394950
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	CA352827878	rs_2080423660	1 SubmittersRCV001377618
NM_001077365.2(POMT1):c.1176-2A>G	SNV Germline	Chr9:131515424	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy 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	CA5293574	rs_746523421	3 SubmittersRCV001377161 RCV001780280 RCV003462945
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)	SNV Germline	Chr9:131511460	Conflicting classifications of pathogenicity	Ventriculomegaly Abnormal brainstem morphology 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA5293480	rs_757984572	3 SubmittersRCV001391255 RCV005040272 RCV003132493
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	CA74541358	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	CA5293596	rs_745509085	2 SubmittersRCV001449743 RCV003474001
NM_001077365.2(POMT1):c.1272+1G>A	SNV Germline	Chr9:131515523	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy 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	CA375310220	rs_2131751359	3 SubmittersRCV001553600 RCV003771694 RCV003474006
NM_001077365.2(POMT1):c.314G>A (p.Arg105His)	SNV Germline	Chr9:131507401	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy 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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA5293229	rs_1554772469	3 SubmittersRCV004529018 RCV003772194 RCV005040388
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	CA2405704	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 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	CA5293142	rs_759848847	2 SubmittersRCV001893866 RCV003475152
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)	SNV Germline	Chr19:46756511	Conflicting classifications of pathogenicity	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 A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Cardiovascular phenotype Intellectual disability	Criteria Provided Conflicting Classifications	CA9532238	rs_781414509	4 SubmittersRCV001898738 RCV002490215 RCV002407033 RCV005626538
NM_021971.4(GMPPB):c.859C>A (p.Arg287=)	SNV Germline	Chr3:49722057	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	CA2405423	rs_142908436	2 SubmittersRCV001947340 RCV004720955
NM_001077365.2(POMT1):c.699+67G>T	SNV Germline	Chr9:131510063	Conflicting classifications of pathogenicity	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 Conflicting Classifications	CA375307608	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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Condition: not provided	Criteria Provided Conflicting Classifications	CA406495822	rs_2122621481	4 SubmittersRCV002014233 RCV002479773 RCV003471265 RCV003491014
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)	SNV Germline	Chr9:131506121	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	CA375305542	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 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	Criteria Provided Multiple Submitters No Conflicts	CA375306235	rs_1289335417	3 SubmittersRCV002019789 RCV003464372 RCV005042665
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	CA200785779	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	CA375311913	rs_376882399	1 SubmittersRCV002267187
NM_001077365.2(POMT1):c.699+68T>C	SNV Germline	Chr9:131510064	Conflicting classifications of pathogenicity	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5293388	rs_759254028	4 SubmittersRCV002271903 RCV003464426 RCV003774862 RCV004017915
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	CA352827258	rs_1230808770	2 SubmittersRCV002604254 RCV003134458
NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)	SNV Germline	Chr3:49723662	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	CA352831687	rs_1204528532	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	CA2405539	rs_534685803	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	CA352826728	rs_2544752296	1 SubmittersRCV003043757
NM_021971.4(GMPPB):c.952-12C>T	SNV Germline	Chr3:49721895	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	Criteria Provided Conflicting Classifications	CA74541297	rs_969160309	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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA5293500	rs_578199793	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	CA375307396	rs_2539136286	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	CA375313692	rs_1465496645	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 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 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA375305617	rs_1945764912	3 SubmittersRCV003472483 RCV005047605 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	CA375305777	rs_2539060300	1 SubmittersRCV003472484
NM_001077365.2(POMT1):c.699+24C>A	SNV Germline	Chr9:131510020	Conflicting classifications of pathogenicity	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	CA5293376	rs_764724167	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	CA375313871	rs_2539453407	1 SubmittersRCV003472491
NM_013382.7(POMT2):c.248+1G>T	SNV Germline	Chr14:77320433	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	Criteria Provided Multiple Submitters No Conflicts	CA390504228	rs_961440747	2 SubmittersRCV003472511 RCV005356446
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	CA375305898	rs_777533386	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		rs_2539060300	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		rs_1205172165	1 SubmittersRCV004574604
NM_001077365.2(POMT1):c.5G>A (p.Trp2Ter)	SNV Germline	Chr9:131504223	Likely pathogenic	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	Criteria Provided Single Submitter			1 SubmittersRCV005048920
NM_001077365.2(POMT1):c.229+1G>A	SNV Germline	Chr9:131506221	Likely pathogenic	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	Criteria Provided Single Submitter			1 SubmittersRCV005043867
NM_001077365.2(POMT1):c.1175+1G>T	SNV Germline	Chr9:131513332	Likely pathogenic	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	Criteria Provided Single Submitter			1 SubmittersRCV005043869
NM_001077365.2(POMT1):c.1584+1G>T	SNV Germline	Chr9:131519487	Likely pathogenic	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	Criteria Provided Single Submitter			1 SubmittersRCV005043870
NM_021971.4(GMPPB):c.641-2A>G	SNV Germline	Chr3:49722360	Likely pathogenic	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 Single Submitter			1 SubmittersRCV005223502
NM_021971.4(GMPPB):c.129+1G>A	SNV Germline	Chr3:49723597	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			1 SubmittersRCV005212472

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

SNV
Germline

Chr9:105604372

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Criteria Provided
Multiple Submitters
No Conflicts

CA116061

rs_119463996

3 SubmittersRCV000003358 RCV000626166 RCV005409594

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

SNV
Germline

Chr9:131506217

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA278040

rs_28941782

3 SubmittersRCV000003394 RCV001171882 RCV005055501

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203493

rs_119462982

12 SubmittersRCV000003399 RCV000179928 RCV001813942 RCV001385876 RCV001264826 RCV003234890 RCV005357065 RCV003472966

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

SNV
Germline

Chr9:131506184

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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

CA116108

rs_119462983

3 SubmittersRCV002286389 RCV002512705 RCV003460408

NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)

SNV
Germline

Chr9:131518945

Pathogenic

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
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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

CA116110

rs_119462985

5 SubmittersRCV000760355 RCV001851614 RCV002286390 RCV005041976

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

SNV
Germline

Chr9:131522160

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116114

rs_119462987

8 SubmittersRCV000414180 RCV000694423 RCV002286394 RCV003460409

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

SNV
Germline

Chr9:131513332

Pathogenic

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 intellectual disability), type B1
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA200787505

rs_1051679985

4 SubmittersRCV001383583 RCV002286395 RCV005055502 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
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 A1
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
Cardiovascular phenotype
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 RCV002226440 RCV002381242 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
8 conditions
Limb-girdle 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 type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Myopathy
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype
FKRP-related disorder
Myopathy caused by variation in FKRP
Neuronopathy, distal hereditary motor, type 2B
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
Nizon-Isidor syndrome
FKRP-related muscular dystrophy-dystroglycanopathy
Hereditary skeletal muscle disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116701

rs_28937900

48 SubmittersRCV000004442 RCV000082182 RCV000231711 RCV000503787 RCV000626960 RCV000612115 RCV000660622 RCV001197775 RCV001329320 RCV001526640 RCV002222338 RCV002408451 RCV004532287 RCV003993736 RCV004776425 RCV005357072 RCV004776426 RCV005401279 RCV005624670

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116722

rs_104894691

14 SubmittersRCV000004453 RCV000814162 RCV000732974 RCV002371759 RCV001813735 RCV003466810 RCV003155013 RCV005003334

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

13 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 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
Abnormality of the musculature
Inborn genetic diseases
GMPPB-related disorder
Limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA144551

rs_397509422

13 SubmittersRCV000054432 RCV000054433 RCV000651273 RCV000788090 RCV001836725 RCV002513710 RCV004549480 RCV005625254

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
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

CA090934

rs_397509426

5 SubmittersRCV000054438 RCV000209926 RCV000684892 RCV000493576

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

Criteria Provided
Multiple Submitters
No Conflicts

CA090892

rs_202160208

22 SubmittersRCV000054439 RCV000553832 RCV000209893 RCV001266808 RCV000520160 RCV003407434 RCV001814035 RCV001542745

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

SNV
Germline

Chr3:49723648

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144567

rs_142336618

17 SubmittersRCV000054440 RCV000610921 RCV000444697 RCV000533184 RCV003388824 RCV001331794 RCV002513711 RCV003421962

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144570

rs_199922550

9 SubmittersRCV000054441 RCV000440664 RCV000501778 RCV001330455 RCV000623470 RCV000651278

NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)

SNV
Germline

Chr9:105575073

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA221461

rs_149033995

8 SubmittersRCV000079435 RCV000634064 RCV002504991 RCV004019537

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222989

rs_200056620

11 SubmittersRCV000081477 RCV000578428 RCV000686940 RCV002288580 RCV004689449 RCV002498428 RCV003460755

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

SNV
Germline

Chr9:131506123

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222993

rs_398124244

8 SubmittersRCV000177268 RCV001376971 RCV002477237 RCV003474682 RCV005431467 RCV004529856

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

SNV
Germline

Chr9:131519401

Conflicting classifications of pathogenicity

not specified
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
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
Intellectual disability
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA206170

rs_117985576

17 SubmittersRCV000192982 RCV000443667 RCV000515174 RCV001085429 RCV001332898 RCV001252355 RCV001166758

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

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
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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA223005

rs_139660235

7 SubmittersRCV000081495 RCV000764803 RCV001341723 RCV001328597 RCV004542790

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 A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
not 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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Muscular dystrophy-dystroglycanopathy type B6
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Muscular dystrophy-dystroglycanopathy type B6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

CA172466

rs_116164106

9 SubmittersRCV000146258 RCV000379599 RCV000555307 RCV000710160 RCV000765632

NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)

SNV
Germline

Chr9:105575057

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA295350

rs_145387221

9 SubmittersRCV000735003 RCV001243305 RCV002426707 RCV002483297

NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)

SNV
Germline

Chr19:46756523

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype
FKRP-related disorder
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

CA234007

rs_143031195

14 SubmittersRCV000473789 RCV000657079 RCV001336093 RCV001838983 RCV002288663 RCV002298484 RCV002415648 RCV004734719 RCV005359326

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

CA211187

rs_794727208

6 SubmittersRCV000175325 RCV000704810 RCV003474928

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

SNV
Germline

Chr9:131522113

Conflicting classifications of pathogenicity

Condition: not provided
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
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

Criteria Provided
Conflicting Classifications

CA278501

rs_149682171

7 SubmittersRCV000175455 RCV000648152 RCV005406892 RCV004567380 RCV005049457

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

SNV
Germline

Chr14:77278858

Conflicting classifications of pathogenicity

not specified
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 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 RCV000543953 RCV000712836 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
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA211189

rs_138902646

6 SubmittersRCV000176088 RCV000535678 RCV005042377 RCV003462281

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

SNV
Germline

Chr19:46756036

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245426

rs_759875552

6 SubmittersRCV000178354 RCV000674993 RCV002492782 RCV000548844 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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 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
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5170446

rs_746763506

9 SubmittersRCV000234557 RCV000255310 RCV000490403 RCV000590733 RCV001594387 RCV002503833 RCV005404398

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

SNV
Germline

Chr3:49722057

Pathogenic

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
Muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2405424

rs_142908436

6 SubmittersRCV000211126 RCV000698947 RCV000609930 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 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

CA10576144

rs_875989850

3 SubmittersRCV000211128 RCV000430158 RCV002515608

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

SNV
Germline

Chr9:105617977

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170538

rs_776639304

6 SubmittersRCV000234043 RCV000999196 RCV002494632 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 type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy type B5
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

Criteria Provided
Conflicting Classifications

CA9532207

rs_563033008

17 SubmittersRCV000226616 RCV000398763 RCV000672226 RCV000726141 RCV000765453 RCV001731540 RCV002374378 RCV003224238 RCV003463680 RCV005252831

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

SNV
Germline

Chr3:49722271

Conflicting classifications of pathogenicity

not specified
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

CA2405464

rs_749730219

2 SubmittersRCV000251834 RCV001226319

NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)

SNV
Germline

Chr9:131521374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293806

rs_144338642

7 SubmittersRCV000246533 RCV000332912 RCV000687622 RCV000725940 RCV002518638 RCV005396853

NM_024301.5(FKRP):c.731G>A (p.Arg244His)

SNV
Germline

Chr19:46756181

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

CA9532194

rs_764641619

12 SubmittersRCV000457561 RCV000664793 RCV000331999 RCV000725201 RCV002379117 RCV005396872

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
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
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
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
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
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

Criteria Provided
Conflicting Classifications

CA10604988

rs_199719668

9 SubmittersRCV000285296 RCV002288961 RCV003475906 RCV000694010 RCV001778879 RCV002503994

NM_001077365.2(POMT1):c.122+5G>A

SNV
Germline

Chr9:131504345

Conflicting classifications of pathogenicity

Condition: not provided
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 intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

CA10605191

rs_376753193

3 SubmittersRCV000388581 RCV000648153 RCV005044534

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

SNV
Germline

Chr9:131510407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293451

rs_747506380

8 SubmittersRCV000712829 RCV000764805 RCV001041917 RCV004021212 RCV003454804

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

Criteria Provided
Conflicting Classifications

CA9532153

rs_199714523

14 SubmittersRCV000464325 RCV000408156 RCV000710136 RCV000765452 RCV002338856 RCV003224253 RCV001275311

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

SNV
Germline

Chr19:46756354

Conflicting classifications of pathogenicity

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

CA9532208

rs_762283381

7 SubmittersRCV000356554 RCV000765454 RCV001273518 RCV000469653 RCV002374484 RCV005016682

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

Criteria Provided
Conflicting Classifications

CA5170471

rs_373418195

8 SubmittersRCV000700000 RCV000726450 RCV002480051 RCV002229751

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

CA2405383

rs_747845961

3 SubmittersRCV000413124 RCV002058865 RCV003133248

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

SNV
Germline

Chr19:46755778

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532143

rs_758759348

9 SubmittersRCV000459145 RCV001272539 RCV000765451 RCV000991999 RCV002446816 RCV003463910 RCV005027515 RCV005239030

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

SNV
Germline

Chr9:131521439

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 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
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
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
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
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_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)

SNV
Germline

Chr9:105635215

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170614

rs_374912618

8 SubmittersRCV000594573 RCV000634068 RCV000766042 RCV002384299

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

SNV
Germline

Chr9:131506188

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293180

rs_757903559

8 SubmittersRCV000819538 RCV000591710 RCV002532650 RCV003459474 RCV004586824 RCV005407785

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

SNV
Germline

Chr9:131512044

Pathogenic/Likely pathogenic

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
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

CA375308747

rs_765230689

4 SubmittersRCV000595731 RCV000763189 RCV003471965 RCV003767405

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

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 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 brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375307262

rs_766648827

3 SubmittersRCV000648156 RCV005046833 RCV003459544

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

SNV
Germline

Chr9:131518502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293658

rs_752384050

5 SubmittersRCV000648158 RCV000733057 RCV004544878 RCV004594087

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9532212

rs_765885747

8 SubmittersRCV000665088 RCV000760366 RCV001055645 RCV002499146 RCV002369793 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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA406495998

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9532135

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

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

CA2405355

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

CA2405377

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

Criteria Provided
Conflicting Classifications

CA2405379

rs_559784211

4 SubmittersRCV000691392 RCV003140092 RCV003128645

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

SNV
Germline

Chr3:49722343

Pathogenic/Likely pathogenic

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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Abnormality of the musculature
Condition: not provided
GMPPB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2405474

rs_761714818

7 SubmittersRCV000698360 RCV001542746 RCV001814219 RCV001784331 RCV004547864

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

CA2405433

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

CA2405533

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

CA74542195

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 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9532302

rs_747785577

5 SubmittersRCV000700840 RCV001825376 RCV002386242 RCV002485723 RCV003222112

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

SNV
Germline

Chr9:131510063

Conflicting classifications of pathogenicity

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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293387

rs_776061161

5 SubmittersRCV000729095 RCV001379440 RCV002282347 RCV003465659 RCV005223149

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

CA5293502

rs_756973046

3 SubmittersRCV000734638 RCV003465669

NM_021971.4(GMPPB):c.490C>T (p.Gln164Ter)

SNV
Germline

Chr3:49722667

Pathogenic

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

CA352828694

rs_1559697183

2 SubmittersRCV000760617 RCV005213382

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

SNV
Germline

Chr9:131520194

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293772

rs_763586263

5 SubmittersRCV001040545 RCV001784380 RCV002469286 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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Criteria Provided
Multiple Submitters
No Conflicts

CA2405548

rs_202013297

7 SubmittersRCV000815814 RCV000993849 RCV001592967 RCV005253125

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

CA2405586

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

Criteria Provided
Single Submitter

CA352831347

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

CA352831442

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 (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

CA309099616

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406497073

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2405495

rs_141588721

4 SubmittersRCV000794094 RCV001568224 RCV004782552 RCV003223413

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
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

CA5293206

rs_746823238

8 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

CA2405437

rs_746357591

3 SubmittersRCV001054940 RCV003106106

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

SNV
Germline

Chr3:49722272

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

CA2405465

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5170477

rs_377417974

4 SubmittersRCV001044487 RCV003473630 RCV002479277 RCV004994200

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

SNV
Germline

Chr9:131506437

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

CA375305860

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
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

Criteria Provided
Conflicting Classifications

CA309099387

rs_921883036

4 SubmittersRCV001226232 RCV001828806 RCV002484228 RCV004032565

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

SNV
Germline

Chr9:131506222

Likely pathogenic

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

CA375305773

rs_1945782278

2 SubmittersRCV001225759 RCV003473785

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

SNV
Germline

Chr19:46755655

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA309099225

rs_990847012

5 SubmittersRCV002418887 RCV001295759 RCV001830129 RCV002493553

NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln)

SNV
Germline

Chr14:77278785

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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Condition: not provided
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

CA7285581

rs_770606360

6 SubmittersRCV001331801 RCV001871825 RCV003327506 RCV005394950

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

CA352827878

rs_2080423660

1 SubmittersRCV001377618

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

SNV
Germline

Chr9:131515424

Likely pathogenic

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

CA5293574

rs_746523421

3 SubmittersRCV001377161 RCV001780280 RCV003462945

NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)

SNV
Germline

Chr9:131511460

Conflicting classifications of pathogenicity

Ventriculomegaly
Abnormal brainstem morphology
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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5293480

rs_757984572

3 SubmittersRCV001391255 RCV005040272 RCV003132493

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

CA74541358

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

CA5293596

rs_745509085

2 SubmittersRCV001449743 RCV003474001

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

SNV
Germline

Chr9:131515523

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy
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

CA375310220

rs_2131751359

3 SubmittersRCV001553600 RCV003771694 RCV003474006

NM_001077365.2(POMT1):c.314G>A (p.Arg105His)

SNV
Germline

Chr9:131507401

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
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
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA5293229

rs_1554772469

3 SubmittersRCV004529018 RCV003772194 RCV005040388

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

CA2405704

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
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

CA5293142

rs_759848847

2 SubmittersRCV001893866 RCV003475152

NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)

SNV
Germline

Chr19:46756511

Conflicting classifications of pathogenicity

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 A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Cardiovascular phenotype
Intellectual disability

Criteria Provided
Conflicting Classifications

CA9532238

rs_781414509

4 SubmittersRCV001898738 RCV002490215 RCV002407033 RCV005626538

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

SNV
Germline

Chr3:49722057

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

CA2405423

rs_142908436

2 SubmittersRCV001947340 RCV004720955

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

SNV
Germline

Chr9:131510063

Conflicting classifications of pathogenicity

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
Conflicting Classifications

CA375307608

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

Criteria Provided
Conflicting Classifications

CA406495822

rs_2122621481

4 SubmittersRCV002014233 RCV002479773 RCV003471265 RCV003491014

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

SNV
Germline

Chr9:131506121

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

CA375305542

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
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

Criteria Provided
Multiple Submitters
No Conflicts

CA375306235

rs_1289335417

3 SubmittersRCV002019789 RCV003464372 RCV005042665

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

CA200785779

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

CA375311913

rs_376882399

1 SubmittersRCV002267187

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

SNV
Germline

Chr9:131510064

Conflicting classifications of pathogenicity

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5293388

rs_759254028

4 SubmittersRCV002271903 RCV003464426 RCV003774862 RCV004017915

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

CA352827258

rs_1230808770

2 SubmittersRCV002604254 RCV003134458

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

SNV
Germline

Chr3:49723662

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

CA352831687

rs_1204528532

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

CA2405539

rs_534685803

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

CA352826728

rs_2544752296

1 SubmittersRCV003043757

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

SNV
Germline

Chr3:49721895

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

Criteria Provided
Conflicting Classifications

CA74541297

rs_969160309

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
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA5293500

rs_578199793

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

CA375307396

rs_2539136286

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

CA375313692

rs_1465496645

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375305617

rs_1945764912

3 SubmittersRCV003472483 RCV005047605 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

CA375305777

rs_2539060300

1 SubmittersRCV003472484

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

SNV
Germline

Chr9:131510020

Conflicting classifications of pathogenicity

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

CA5293376

rs_764724167

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

CA375313871

rs_2539453407

1 SubmittersRCV003472491

NM_013382.7(POMT2):c.248+1G>T

SNV
Germline

Chr14:77320433

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA390504228

rs_961440747

2 SubmittersRCV003472511 RCV005356446

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

CA375305898

rs_777533386

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

rs_2539060300

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

rs_1205172165

1 SubmittersRCV004574604

NM_001077365.2(POMT1):c.5G>A (p.Trp2Ter)

SNV
Germline

Chr9:131504223

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005048920

NM_001077365.2(POMT1):c.229+1G>A

SNV
Germline

Chr9:131506221

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005043867

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

SNV
Germline

Chr9:131513332

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005043869

NM_001077365.2(POMT1):c.1584+1G>T

SNV
Germline

Chr9:131519487

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005043870

NM_021971.4(GMPPB):c.641-2A>G

SNV
Germline

Chr3:49722360

Likely pathogenic

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
Single Submitter

1 SubmittersRCV005223502

NM_021971.4(GMPPB):c.129+1G>A

SNV
Germline

Chr3:49723597

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

1 SubmittersRCV005212472