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.139C>T (p.Arg47Ter)	SNV Germline	Chr9:105596631	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Condition: not provided Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA116054	rs_119463990	12 SubmittersRCV000003353 RCV000594458 RCV000811518 RCV003472962 RCV003372594
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)	SNV Germline	Chr9:105601325	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA116066	rs_119463991	6 SubmittersRCV000003360 RCV001067436 RCV003472963 RCV005562298
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)	SNV Germline	Chr9:105617968	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2M Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Cardiovascular phenotype 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 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Criteria Provided Multiple Submitters No Conflicts	CA116072	rs_119463992	10 SubmittersRCV000003362 RCV000724028 RCV001036532 RCV001192872 RCV001254647 RCV003466793 RCV004991964 RCV005041974 RCV006261717
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr)	SNV Germline	Chr9:105604381	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1X Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA252619	rs_119463994	4 SubmittersRCV000003365 RCV000441410 RCV002512702
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)	SNV Germline	Chr9:105601319	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA116076	rs_119463995	3 SubmittersRCV000003368 RCV000675045 RCV001851612
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)	SNV Germline	Chr9:105604354	Likely pathogenic	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	CA116080	rs_119464997	3 SubmittersRCV000003369 RCV003591619 RCV003472964
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	SNV Germline	Chr9:105620001	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Condition: not provided 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	Criteria Provided Conflicting Classifications	CA116084	rs_119464998	10 SubmittersRCV000003370 RCV000554503 RCV002433443 RCV004566677 RCV003466794 RCV005632154 RCV005041975
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	SNV Germline	Chr9:105617967	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Dilated cardiomyopathy 1X 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 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	Criteria Provided Multiple Submitters No Conflicts	CA116088	rs_267606814	13 SubmittersRCV000003371 RCV000498134 RCV000795218 RCV002444418 RCV003466795 RCV004819203 RCV005003319
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 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	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 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 Abnormality of the nervous system Autosomal recessive limb-girdle muscular dystrophy 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	Criteria Provided Multiple Submitters No Conflicts	CA203493	rs_119462982	12 SubmittersRCV000003399 RCV000179928 RCV001385876 RCV001264826 RCV001813942 RCV003234890 RCV003472966 RCV005357065
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 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116108	rs_119462983	4 SubmittersRCV002512705 RCV002286389 RCV003460408 RCV005887254
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)	SNV Germline	Chr9:131518945	Pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 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 Multiple Submitters No Conflicts	CA116110	rs_119462985	5 SubmittersRCV000760355 RCV001851614 RCV002286390 RCV005041976
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)	SNV Germline	Chr9:131521351	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K not specified	Criteria Provided Conflicting Classifications	CA116112	rs_119462986	4 SubmittersRCV000175324 RCV002286391 RCV003764522 RCV006456598
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 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	CA116114	rs_119462987	8 SubmittersRCV000414180 RCV000694423 RCV002286394 RCV003460409
NM_001077365.2(POMT1):c.1175+1G>A	SNV Germline	Chr9:131513332	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA200787505	rs_1051679985	4 SubmittersRCV001383583 RCV002286395 RCV003472967 RCV005055502
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)	SNV Germline	Chr19:46756376	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Conflicting Classifications	CA116695	rs_104894679	4 SubmittersRCV001851646 RCV002226438 RCV003144103 RCV003466806
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)	SNV Germline	Chr19:46756604	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 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 Multiple Submitters No Conflicts	CA116697	rs_104894680	6 SubmittersRCV000634067 RCV002226439 RCV003137491 RCV003460427 RCV003352746 RCV005025007
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)	SNV Germline	Chr19:46756793	Pathogenic/Likely pathogenic	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 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 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 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 8 conditions Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Myopathy Autosomal recessive limb-girdle muscular dystrophy Cardiovascular phenotype Myopathy caused by variation in FKRP FKRP-related disorder Neuronopathy, distal hereditary motor, type 2B FKRP-related muscular dystrophy-dystroglycanopathy Hereditary skeletal muscle disorder 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	Criteria Provided Multiple Submitters No Conflicts	CA116701	rs_28937900	51 SubmittersRCV000004442 RCV000082182 RCV000231711 RCV000503787 RCV000612115 RCV000660622 RCV000626960 RCV001329320 RCV001197775 RCV001526640 RCV002222338 RCV002408451 RCV003993736 RCV004532287 RCV004776425 RCV005401279 RCV005624670 RCV005357072 RCV004776426
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)	SNV Germline	Chr19:46756936	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116704	rs_104894682	6 SubmittersRCV000004444 RCV000471321 RCV000501528 RCV000725596 RCV002222339
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)	SNV Germline	Chr19:46756396	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116706	rs_28937901	5 SubmittersRCV000004445 RCV000675047 RCV003144104 RCV003591621
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)	SNV Germline	Chr19:46756814	Pathogenic	Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA116710	rs_28937903	11 SubmittersRCV000004447 RCV000201040 RCV000532707 RCV000597675 RCV003466808
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)	SNV Germline	Chr19:46755610	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116714	rs_28937905	5 SubmittersRCV000004449 RCV003591622 RCV004700187
NM_024301.5(FKRP):c.235G>A (p.Val79Met)	SNV Germline	Chr19:46755685	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2I not specified Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA116716	rs_104894683	16 SubmittersRCV000004450 RCV000236146 RCV000513718 RCV001083979 RCV002444421
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	SNV Germline	Chr19:46756349	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Cardiovascular phenotype 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 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Multiple Submitters No Conflicts	CA116722	rs_104894691	14 SubmittersRCV000004453 RCV000732974 RCV000814162 RCV001813735 RCV002371759 RCV003466810 RCV003155013 RCV005003334
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)	SNV Germline	Chr19:46756369	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy FKRP-related disorder Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116724	rs_104894692	8 SubmittersRCV000004454 RCV000004455 RCV000494504 RCV000805125 RCV000844942 RCV003488324
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_001079802.2(FKTN):c.1023G>A (p.Pro341=)	SNV Germline	Chr9:105618071	Conflicting classifications of pathogenicity	Cardiomyopathy Walker-Warburg congenital muscular dystrophy not specified Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Condition: not provided	Criteria Provided Conflicting Classifications	CA325737	rs_146967918	10 SubmittersRCV000029799 RCV000456531 RCV000387391 RCV000617387 RCV001165727 RCV001165728 RCV001536542
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)	SNV Germline	Chr9:105635175	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Condition: not provided Cardiovascular phenotype Ventricular tachycardia Cardiomyopathy Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA295366	rs_141918432	12 SubmittersRCV000149976 RCV000314345 RCV000390697 RCV000473598 RCV000620492 RCV000853035 RCV001081187
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)	SNV Germline	Chr9:105635214	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X	Criteria Provided Conflicting Classifications	CA285415	rs_41313301	20 SubmittersRCV000029801 RCV000079428 RCV000231310 RCV000620456 RCV000991977 RCV001167309 RCV001167904
NM_001079802.2(FKTN):c.166-4A>G	SNV Germline	Chr9:105601141	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Condition: not provided Walker-Warburg congenital muscular dystrophy not specified Myopathy caused by variation in FKTN FKTN-related disorder Cardiovascular phenotype Clear cell carcinoma of kidney Colon adenocarcinoma Lymphoma Familial cancer of breast	Criteria Provided Conflicting Classifications	CA295355	rs_193922689	15 SubmittersRCV000311406 RCV000405586 RCV000710133 RCV001086528 RCV001844018 RCV002470721 RCV004541024 RCV004018687 RCV005888726 RCV005888725 RCV005888727 RCV005888724
NM_001079802.2(FKTN):c.166-6A>G	SNV Germline	Chr9:105601139	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Walker-Warburg congenital muscular dystrophy Condition: not provided Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA285420	rs_41277795	16 SubmittersRCV000029803 RCV000079430 RCV000232980 RCV000711625 RCV001165653 RCV001165654 RCV004017268
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)	SNV Germline	Chr9:105601145	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Condition: not provided Muscular dystrophy-dystroglycanopathy	Criteria Provided Conflicting Classifications	CA285421	rs_41277797	18 SubmittersRCV000079431 RCV000368379 RCV000397538 RCV000466034 RCV000619307 RCV001572926 RCV003993795
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)	SNV Germline	Chr9:105601146	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiovascular phenotype Hypertrophic cardiomyopathy Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 FKTN-related disorder	Criteria Provided Conflicting Classifications	CA285426	rs_146951171	16 SubmittersRCV000079432 RCV000245908 RCV000241990 RCV000853033 RCV001080549 RCV001167247 RCV001167248 RCV004528283
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 with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Autosomal recessive limb-girdle muscular dystrophy type 2M Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA221461	rs_149033995	9 SubmittersRCV000079435 RCV000634064 RCV002504991 RCV004019537 RCV006456682
NM_001079802.2(FKTN):c.910+14G>A	SNV Germline	Chr9:105615421	Conflicting classifications of pathogenicity	not specified Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA285436	rs_76180538	11 SubmittersRCV000079440 RCV001165723 RCV001165724 RCV001795087 RCV002055116 RCV004017391
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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Limb-girdle muscular dystrophy due to POMK deficiency 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 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222989	rs_200056620	12 SubmittersRCV000081477 RCV000578428 RCV000686940 RCV002288580 RCV003460755 RCV002498428 RCV004689449
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	SNV Germline	Chr9:131506123	Pathogenic/Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 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 POMT1-related disorder Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222993	rs_398124244	8 SubmittersRCV000177268 RCV001376971 RCV002477237 RCV003474682 RCV004529856 RCV005431467
NM_001077365.2(POMT1):c.1365+15C>T	SNV Germline	Chr9:131518552	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2K 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	Criteria Provided Conflicting Classifications	CA222995	rs_58896330	5 SubmittersRCV000250460 RCV000406427 RCV000723552 RCV002055205
NM_001077365.2(POMT1):c.1416C>T (p.Val472=)	SNV Germline	Chr9:131518887	Conflicting classifications of pathogenicity	not specified 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 Condition: not provided POMT1-related disorder	Criteria Provided Conflicting Classifications	CA148550	rs_139687326	7 SubmittersRCV000081483 RCV000302685 RCV000537255 RCV001697139 RCV004528292
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 brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Intellectual disability Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA206170	rs_117985576	17 SubmittersRCV000192982 RCV000443667 RCV000515174 RCV001085429 RCV001166758 RCV001252355 RCV001332898
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)	SNV Germline	Chr9:131523043	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2K 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	Criteria Provided Conflicting Classifications	CA222997	rs_76092524	6 SubmittersRCV000253981 RCV000285946 RCV000712823 RCV001087221
NM_001077365.2(POMT1):c.310C>T (p.Leu104=)	SNV Germline	Chr9:131507397	Conflicting classifications of pathogenicity	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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA222999	rs_146982282	3 SubmittersRCV000081490 RCV001517108 RCV004734639
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)	SNV Germline	Chr9:131510287	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 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 brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA223005	rs_139660235	7 SubmittersRCV000081495 RCV000764803 RCV001328597 RCV001341723 RCV004542790
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)	SNV Germline	Chr19:46755791	Conflicting classifications of pathogenicity	not specified Walker-Warburg congenital muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA149248	rs_143793528	16 SubmittersRCV000082175 RCV000227473 RCV000711662 RCV000577971 RCV001563823 RCV001563824 RCV002453409
NM_024301.5(FKRP):c.606G>A (p.Leu202=)	SNV Germline	Chr19:46756056	Conflicting classifications of pathogenicity	not specified Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype FKRP-related disorder	Criteria Provided Conflicting Classifications	CA223743	rs_140084192	11 SubmittersRCV000082180 RCV000723553 RCV001088477 RCV001831885 RCV002354284 RCV004542795
NM_024301.5(FKRP):c.696G>T (p.Ala232=)	SNV Germline	Chr19:46756146	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA223745	rs_398124394	4 SubmittersRCV000082181 RCV000665517 RCV001494780 RCV005562305
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)	SNV Germline	Chr19:46756391	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5	Criteria Provided Multiple Submitters No Conflicts	CA202828	rs_398124395	8 SubmittersRCV000082183 RCV000178344 RCV001050280 RCV003466994 RCV003987356
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln)	SNV Germline	Chr19:46756477	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA231092	rs_587780334	2 SubmittersRCV000117036 RCV001520188
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)	SNV Germline	Chr19:46756272	Conflicting classifications of pathogenicity	not specified Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA152821	rs_77138370	14 SubmittersRCV000117039 RCV000711666 RCV001086481 RCV001836732 RCV002426662
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)	SNV Germline	Chr19:46756627	Conflicting classifications of pathogenicity	not specified Walker-Warburg congenital muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype FKRP-related disorder	Criteria Provided Conflicting Classifications	CA205982	rs_140679502	14 SubmittersRCV000192864 RCV000456138 RCV001093246 RCV001275320 RCV002336274 RCV004530080
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 Dilated cardiomyopathy 1X 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 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 not specified	Criteria Provided Conflicting Classifications	CA295350	rs_145387221	11 SubmittersRCV000735003 RCV001243305 RCV002426707 RCV002483297 RCV005888293
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser)	SNV Germline	Chr9:105635059	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Criteria Provided Conflicting Classifications	CA295377	rs_727502849	5 SubmittersRCV000149979 RCV001831931 RCV002492549 RCV005411356
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)	SNV Germline	Chr19:46755919	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA295341	rs_727502842	3 SubmittersRCV003324234 RCV003466061 RCV003592021
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 (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy Cardiovascular phenotype FKRP-related disorder 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	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 Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 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	Criteria Provided Multiple Submitters No Conflicts	CA233995	rs_537001725	9 SubmittersRCV000153239 RCV000984176 RCV001068213 RCV002492573 RCV003474809
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)	SNV Germline	Chr19:46756190	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 FKRP-related disorder not specified	Criteria Provided Conflicting Classifications	CA234005	rs_528000488	12 SubmittersRCV000711665 RCV001079526 RCV001275315 RCV002381484 RCV003225033 RCV004544393 RCV006268632
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=)	SNV Germline	Chr9:131519390	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Conflicting Classifications	CA233764	rs_727503872	3 SubmittersRCV000153047 RCV000362995 RCV001850088
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)	SNV Germline	Chr9:131521445	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K 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	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 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 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 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA278501	rs_149682171	7 SubmittersRCV000175455 RCV000648152 RCV004567380 RCV005049457 RCV005406892
NM_001077365.2(POMT1):c.42C>T (p.Asp14=)	SNV Germline	Chr9:131504260	Conflicting classifications of pathogenicity	not specified 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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA241620	rs_150937126	5 SubmittersRCV000215378 RCV000724701 RCV001088411 RCV004528935
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)	SNV Germline	Chr9:131523025	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	Criteria Provided Conflicting Classifications	CA241948	rs_138902646	5 SubmittersRCV000724246 RCV001085583 RCV001169205
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)	SNV Germline	Chr9:131523025	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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA211189	rs_138902646	6 SubmittersRCV000176088 RCV000535678 RCV003462281 RCV005042377
NM_001077365.2(POMT1):c.129C>T (p.Asp43=)	SNV Germline	Chr9:131506120	Conflicting classifications of pathogenicity	not specified 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	Criteria Provided Conflicting Classifications	CA209472	rs_200465419	5 SubmittersRCV000194959 RCV000724773 RCV001086998
NM_024301.5(FKRP):c.1115T>G (p.Val372Gly)	SNV Germline	Chr19:46756565	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA245424	rs_771793862	3 SubmittersRCV000178353 RCV001852212 RCV006342148
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)	SNV Germline	Chr19:46756036	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA245426	rs_759875552	6 SubmittersRCV000178354 RCV000548844 RCV000674993 RCV002492782 RCV004619208 RCV005891951
NM_024301.5(FKRP):c.729G>A (p.Ala243=)	SNV Germline	Chr19:46756179	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA245428	rs_794727651	2 SubmittersRCV000178355 RCV001462245
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)	SNV Germline	Chr19:46756396	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 A5 Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA245434	rs_28937901	4 SubmittersRCV000178358 RCV000670956 RCV003468865 RCV002517730
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)	SNV Germline	Chr19:46756397	Pathogenic/Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA245436	rs_752582904	4 SubmittersRCV000263428 RCV001065681 RCV002500502 RCV003462286
NM_024301.5(FKRP):c.954C>T (p.Cys318=)	SNV Germline	Chr19:46756404	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA245440	rs_755968761	7 SubmittersRCV000178361 RCV001085557 RCV001818438 RCV002372094
NM_001079802.2(FKTN):c.370-7G>A	SNV Germline	Chr9:105604208	Conflicting classifications of pathogenicity	not specified Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA208630	rs_797045577	2 SubmittersRCV000194451 RCV002054264
NM_001077365.2(POMT1):c.986+9A>G	SNV Germline	Chr9:131511476	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2K 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	Criteria Provided Conflicting Classifications	CA206070	rs_202095070	10 SubmittersRCV000192918 RCV000349139 RCV000532464 RCV001085720
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)	SNV Germline	Chr9:131523106	Conflicting classifications of pathogenicity	not specified 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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA208025	rs_147143094	9 SubmittersRCV000194092 RCV000712824 RCV001084644 RCV001169207 RCV004541250
NM_024301.5(FKRP):c.483C>T (p.Ala161=)	SNV Germline	Chr19:46755933	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA206471	rs_797045576	4 SubmittersRCV000193165 RCV000674471 RCV001496128 RCV002327026
NM_024301.5(FKRP):c.699G>A (p.Val233=)	SNV Germline	Chr19:46756149	Conflicting classifications of pathogenicity	not specified Walker-Warburg congenital muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA208137	rs_764527541	4 SubmittersRCV000194156 RCV000950919 RCV001582685 RCV002372163
NM_024301.5(FKRP):c.1140G>A (p.Gly380=)	SNV Germline	Chr19:46756590	Conflicting classifications of pathogenicity	not specified Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA209044	rs_552260353	4 SubmittersRCV000194696 RCV000725091 RCV001087598 RCV002453706
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 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA278543	rs_772370177	2 SubmittersRCV000192686 RCV002517157
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)	SNV Germline	Chr9:131518475	Conflicting classifications of pathogenicity	not specified 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	Criteria Provided Conflicting Classifications	CA249339	rs_377304621	6 SubmittersRCV000203138 RCV000724979 RCV001079894
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 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 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 without intellectual disability), type B4 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA5170446	rs_746763506	10 SubmittersRCV000234557 RCV000255310 RCV000490403 RCV000590733 RCV001594387 RCV002503833 RCV005404398
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 A, 4 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 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 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 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy 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 RCV000726141 RCV000672226 RCV000765453 RCV001731540 RCV002374378 RCV003224238 RCV003463680 RCV005252831
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 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 Inborn genetic diseases 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 Conflicting Classifications	CA5293806	rs_144338642	7 SubmittersRCV000246533 RCV000332912 RCV000725940 RCV000687622 RCV002518638 RCV005396853
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)	SNV Germline	Chr9:131522207	Conflicting classifications of pathogenicity	not specified 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 Conflicting Classifications	CA5293886	rs_140553130	6 SubmittersRCV000248748 RCV000725195 RCV001089075
NM_024301.5(FKRP):c.567C>T (p.Pro189=)	SNV Germline	Chr19:46756017	Conflicting classifications of pathogenicity	not specified Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9532171	rs_201454433	10 SubmittersRCV000254084 RCV000725158 RCV001085023 RCV001828147 RCV002347967
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)	SNV Germline	Chr9:105575054	Conflicting classifications of pathogenicity	Cardiovascular phenotype Walker-Warburg congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA5170287	rs_368981218	7 SubmittersRCV000253874 RCV000472415 RCV000519772
NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg)	SNV Germline	Chr9:105615392	Conflicting classifications of pathogenicity	Cardiovascular phenotype Walker-Warburg congenital muscular dystrophy 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	Criteria Provided Conflicting Classifications	CA5170513	rs_367662190	4 SubmittersRCV000252346 RCV001217618 RCV005044511
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)	SNV Germline	Chr9:105607852	Conflicting classifications of pathogenicity	Cardiovascular phenotype Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 not specified Condition: not provided Walker-Warburg congenital muscular dystrophy FKTN-related disorder	Criteria Provided Conflicting Classifications	CA5170469	rs_142604625	8 SubmittersRCV000247400 RCV000287677 RCV000323973 RCV000347593 RCV000725721 RCV001083707 RCV004535228
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile)	SNV Germline	Chr9:105615366	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy Walker-Warburg congenital muscular dystrophy not specified Cardiovascular phenotype FKTN-related disorder	Criteria Provided Conflicting Classifications	CA5170509	rs_755092516	8 SubmittersRCV000255453 RCV000853034 RCV001084591 RCV001844104 RCV002374434 RCV004535235
NM_001077365.2(POMT1):c.568C>T (p.Leu190=)	SNV Germline	Chr9:131509771	Conflicting classifications of pathogenicity	not specified Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293324	rs_752931210	4 SubmittersRCV000402228 RCV000552385 RCV000724802 RCV004542974
NM_001077365.2(POMT1):c.1149C>T (p.His383=)	SNV Germline	Chr9:131513305	Conflicting classifications of pathogenicity	not specified 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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293550	rs_202121299	9 SubmittersRCV000394979 RCV000724838 RCV001085734 RCV004542979
NM_001079802.2(FKTN):c.706A>G (p.Met236Val)	SNV Germline	Chr9:105607877	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10603977	rs_886042241	6 SubmittersRCV000724974 RCV001239545 RCV005338122
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)	SNV Germline	Chr19:46755995	Pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA9532164	rs_543163491	11 SubmittersRCV000336106 RCV000810074 RCV000984175 RCV003463742 RCV004992146 RCV004796149
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)	SNV Germline	Chr19:46756036	Conflicting classifications of pathogenicity	Condition: not provided 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	Criteria Provided Conflicting Classifications	CA9532174	rs_759875552	6 SubmittersRCV000314155 RCV000673934 RCV002519121 RCV004021118 RCV003469227
NM_001079802.2(FKTN):c.180A>G (p.Lys60=)	SNV Germline	Chr9:105601159	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10604336	rs_886042513	3 SubmittersRCV000266617 RCV001422531 RCV004021122
NM_024301.5(FKRP):c.731G>A (p.Arg244His)	SNV Germline	Chr19:46756181	Conflicting classifications of pathogenicity	not specified Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I 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 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Conflicting Classifications	CA9532194	rs_764641619	14 SubmittersRCV000331999 RCV000457561 RCV000664793 RCV000725201 RCV002379117 RCV005396872
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)	SNV Germline	Chr19:46755619	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA9532119	rs_773024545	7 SubmittersRCV000308811 RCV000634051 RCV001272535 RCV005238827
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)	SNV Germline	Chr9:105635106	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2M 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 Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype FKTN-related disorder	Criteria Provided Conflicting Classifications	CA5170600	rs_146272618	6 SubmittersRCV000380549 RCV000766041 RCV001081484 RCV002365305 RCV004543026
NM_001079802.2(FKTN):c.402A>T (p.Gly134=)	SNV Germline	Chr9:105604247	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170402	rs_780921233	4 SubmittersRCV000326218 RCV001084846 RCV002356377
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys)	SNV Germline	Chr19:46756504	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA9532236	rs_751676482	5 SubmittersRCV000725327 RCV002401986 RCV003754872
NM_001077365.2(POMT1):c.330C>G (p.Leu110=)	SNV Germline	Chr9:131507417	Conflicting classifications of pathogenicity	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 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA5293231	rs_138064523	5 SubmittersRCV000725366 RCV001080804 RCV001169105
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)	SNV Germline	Chr19:46755763	Pathogenic/Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA9532140	rs_761821795	5 SubmittersRCV000272017 RCV001859606 RCV003463757
NM_001077365.2(POMT1):c.345G>A (p.Ser115=)	SNV Germline	Chr9:131507432	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Conflicting Classifications	CA5293240	rs_147212285	3 SubmittersRCV000365109 RCV000725576 RCV001370260
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)	SNV Germline	Chr9:131513282	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K not specified Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293544	rs_146869947	5 SubmittersRCV000338793 RCV000376051 RCV000530614 RCV004535339
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)	SNV Germline	Chr19:46755994	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9532163	rs_753390261	5 SubmittersRCV000324567 RCV000673996 RCV001859617 RCV002348000
NM_001079802.2(FKTN):c.63G>C (p.Leu21=)	SNV Germline	Chr9:105575095	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170292	rs_766642997	4 SubmittersRCV000406677 RCV001087279 RCV002356384
NM_001077365.2(POMT1):c.1749C>G (p.Leu583=)	SNV Germline	Chr9:131521396	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 not specified	Criteria Provided Conflicting Classifications	CA10605125	rs_755379319	3 SubmittersRCV000378776 RCV002519182 RCV005418047
NM_001077365.2(POMT1):c.2003+9G>A	SNV Germline	Chr9:131522233	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 Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA5293895	rs_368975092	3 SubmittersRCV000280643 RCV000725710 RCV001484682
NM_001077365.2(POMT1):c.122+5G>A	SNV Germline	Chr9:131504345	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA10605191	rs_376753193	3 SubmittersRCV000388581 RCV000648153 RCV005044534
NM_024301.5(FKRP):c.969C>T (p.Arg323=)	SNV Germline	Chr19:46756419	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA9532218	rs_532054402	8 SubmittersRCV000725724 RCV001081031 RCV002379132 RCV003330622
NM_024301.5(FKRP):c.531G>A (p.Glu177=)	SNV Germline	Chr19:46755981	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA9532159	rs_768007208	8 SubmittersRCV000725725 RCV001081894 RCV001828220 RCV002348001 RCV003330623
NM_001077365.2(POMT1):c.1014C>T (p.His338=)	SNV Germline	Chr9:131512068	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	Criteria Provided Conflicting Classifications	CA10605235	rs_886043203	2 SubmittersRCV000284032 RCV003765632
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)	SNV Germline	Chr9:131509789	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided Inborn genetic diseases POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293329	rs_199498900	7 SubmittersRCV000540929 RCV000712827 RCV002519193 RCV004543069
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly)	SNV Germline	Chr9:105604288	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170413	rs_773305645	6 SubmittersRCV000338247 RCV001246019 RCV002328780
NM_001077365.2(POMT1):c.846C>T (p.Ala282=)	SNV Germline	Chr9:131510406	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	Criteria Provided Conflicting Classifications	CA10605359	rs_886043307	2 SubmittersRCV000298509 RCV001081730
NM_001079802.2(FKTN):c.21C>T (p.Asn7=)	SNV Germline	Chr9:105575053	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170285	rs_564632018	4 SubmittersRCV000725915 RCV001085468 RCV004021211
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)	SNV Germline	Chr9:131510407	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases 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 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 Conflicting Classifications	CA5293451	rs_747506380	8 SubmittersRCV000712829 RCV004021212 RCV000764805 RCV001041917 RCV003454804
NM_001077365.2(POMT1):c.2067C>T (p.His689=)	SNV Germline	Chr9:131522995	Conflicting classifications of pathogenicity	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 Conflicting Classifications	CA5293926	rs_141895982	2 SubmittersRCV000341250 RCV000648171
NM_001077365.2(POMT1):c.1200C>T (p.Ser400=)	SNV Germline	Chr9:131515450	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA10606029	rs_886043851	2 SubmittersRCV000360608 RCV003765654
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=)	SNV Germline	Chr9:131522986	Conflicting classifications of pathogenicity	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 Conflicting Classifications	CA10606149	rs_886043948	2 SubmittersRCV000352633 RCV001087544
NM_001077365.2(POMT1):c.1933C>T (p.Leu645=)	SNV Germline	Chr9:131522154	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA10606256	rs_750972624	2 SubmittersRCV000317771 RCV005222874
NM_024301.5(FKRP):c.54T>A (p.Leu18=)	SNV Germline	Chr19:46755504	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype FKRP-related disorder	Criteria Provided Conflicting Classifications	CA9532101	rs_565563742	6 SubmittersRCV000319756 RCV001085217 RCV001828260 RCV002348018 RCV004535418
NM_001079802.2(FKTN):c.293C>T (p.Thr98Ile)	SNV Germline	Chr9:105601272	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170366	rs_376452959	5 SubmittersRCV000369724 RCV000817245 RCV005562330
NM_001079802.2(FKTN):c.911-8C>A	SNV Germline	Chr9:105617951	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy FKTN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5170532	rs_749557617	4 SubmittersRCV001079238 RCV004543123 RCV000726303
NM_024301.5(FKRP):c.885C>T (p.Arg295=)	SNV Germline	Chr19:46756335	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9532206	rs_769005880	8 SubmittersRCV000394110 RCV001275317 RCV001083609 RCV001729511 RCV002446530
NM_024301.5(FKRP):c.1383G>T (p.Ala461=)	SNV Germline	Chr19:46756833	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA9532307	rs_759585825	2 SubmittersRCV000346836 RCV001086774
NM_001077365.2(POMT1):c.1486+9G>A	SNV Germline	Chr9:131518966	Conflicting classifications of pathogenicity	not specified 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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293714	rs_547775333	4 SubmittersRCV000319136 RCV000726328 RCV001395375 RCV004734945
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)	SNV Germline	Chr19:46756420	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy type B5	Criteria Provided Multiple Submitters No Conflicts	CA10606452	rs_886044183	4 SubmittersRCV000282481 RCV000461986 RCV000726333 RCV005230229
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)	SNV Germline	Chr19:46755906	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy not specified Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Conflicting Classifications	CA9532153	rs_199714523	16 SubmittersRCV000464325 RCV000408156 RCV000710136 RCV000765452 RCV001275311 RCV002338856 RCV003224253
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)	SNV Germline	Chr19:46756354	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Conflicting Classifications	CA9532208	rs_762283381	7 SubmittersRCV000356554 RCV000469653 RCV002374484 RCV005016682 RCV000765454 RCV001273518
NM_001077365.2(POMT1):c.246C>T (p.Phe82=)	SNV Germline	Chr9:131506419	Conflicting classifications of pathogenicity	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 Conflicting Classifications	CA5293202	rs_148887050	2 SubmittersRCV000332614 RCV001088902
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu)	SNV Germline	Chr19:46756082	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9532181	rs_750041378	5 SubmittersRCV000383820 RCV000460118 RCV001833398 RCV005562331
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala)	SNV Germline	Chr19:46756891	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9532323	rs_745774108	5 SubmittersRCV000270749 RCV001082322 RCV002392813
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)	SNV Germline	Chr9:105607874	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Condition: not provided not specified Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X	Criteria Provided Conflicting Classifications	CA5170471	rs_373418195	8 SubmittersRCV000700000 RCV000726450 RCV002229751 RCV002480051
NM_001079802.2(FKTN):c.411C>T (p.Cys137=)	SNV Germline	Chr9:105604256	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170405	rs_537001725	3 SubmittersRCV000407363 RCV001415673 RCV005338131
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)	SNV Germline	Chr9:131515444	Conflicting classifications of pathogenicity	not specified 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	Criteria Provided Conflicting Classifications	CA5293578	rs_371653610	3 SubmittersRCV000261691 RCV000726459 RCV001415274
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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X FKTN-related disorder	Criteria Provided Conflicting Classifications	CA5170500	rs_558187116	11 SubmittersRCV000263255 RCV000526522 RCV001169711 RCV001169710 RCV002429237 RCV002487283 RCV004734947
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser)	SNV Germline	Chr9:105635148	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Primary familial dilated cardiomyopathy Dilated cardiomyopathy 1X Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170605	rs_752358445	5 SubmittersRCV000267506 RCV000459192 RCV002222481 RCV003475923 RCV004619249
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)	SNV Germline	Chr9:131520142	Conflicting classifications of pathogenicity	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 Conflicting Classifications	CA5293766	rs_757830349	3 SubmittersRCV000367352 RCV001392641
NM_001079802.2(FKTN):c.1158A>G (p.Thr386=)	SNV Germline	Chr9:105620047	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA10606871	rs_886044528	2 SubmittersRCV000387255 RCV001087986
NM_001077365.2(POMT1):c.1486+10C>T	SNV Germline	Chr9:131518967	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K 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 Conflicting Classifications	CA5293715	rs_373393733	3 SubmittersRCV000272104 RCV000362366 RCV001510760
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)	SNV Germline	Chr19:46756604	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype FKRP-related disorder not specified	Criteria Provided Conflicting Classifications	CA9532258	rs_104894680	9 SubmittersRCV000285599 RCV001079454 RCV002348030 RCV004537622 RCV005238861
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=)	SNV Germline	Chr9:131513257	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA5293537	rs_771523115	2 SubmittersRCV000393902 RCV003766098
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=)	SNV Germline	Chr9:105635066	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10628721	rs_886063320	3 SubmittersRCV000280464 RCV000335334 RCV002058763 RCV002338957
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=)	SNV Germline	Chr9:131518932	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA5293702	rs_373482514	3 SubmittersRCV000359663 RCV000878229 RCV004999355
NM_001079802.2(FKTN):c.397A>G (p.Met133Val)	SNV Germline	Chr9:105604242	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Criteria Provided Conflicting Classifications	CA5170401	rs_569778463	3 SubmittersRCV000634069 RCV005044591
NM_001077365.2(POMT1):c.36G>A (p.Thr12=)	SNV Germline	Chr9:131504254	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K 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	Criteria Provided Conflicting Classifications	CA5293133	rs_201262353	3 SubmittersRCV000324548 RCV000591419 RCV001504471
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=)	SNV Germline	Chr9:131518495	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA5293655	rs_753403833	2 SubmittersRCV000359812 RCV000902767
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 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA5293718	rs_142995404	4 SubmittersRCV000329347 RCV000429135 RCV001334644 RCV002058780
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)	SNV Germline	Chr9:105596601	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2M	Criteria Provided Multiple Submitters No Conflicts	CA16041290	rs_773884973	3 SubmittersRCV000410928 RCV003754875 RCV005238958
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)	SNV Germline	Chr9:105607937	Conflicting classifications of pathogenicity	not specified Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Cardiovascular phenotype FKTN-related disorder	Criteria Provided Conflicting Classifications	CA5170478	rs_377417974	7 SubmittersRCV000430403 RCV000727454 RCV001078960 RCV001169708 RCV001169709 RCV002393039 RCV004539897
NM_001077365.2(POMT1):c.281-5T>C	SNV Germline	Chr9:131507363	Conflicting classifications of pathogenicity	not specified Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Conflicting Classifications	CA5293225	rs_367743923	2 SubmittersRCV000442385 RCV001861627
NM_001077365.2(POMT1):c.1443C>T (p.His481=)	SNV Germline	Chr9:131518914	Conflicting classifications of pathogenicity	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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293695	rs_139415150	4 SubmittersRCV000731140 RCV001487542 RCV004539791
NM_001077365.2(POMT1):c.855+6T>C	SNV Germline	Chr9:131510421	Conflicting classifications of pathogenicity	not specified Condition: not provided POMT1-related disorder Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Conflicting Classifications	CA5293454	rs_200692465	4 SubmittersRCV000419700 RCV000726765 RCV004539854 RCV001051349
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)	SNV Germline	Chr19:46756855	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype FKRP-related disorder not specified	Criteria Provided Conflicting Classifications	CA9532315	rs_143129484	8 SubmittersRCV000727355 RCV001273522 RCV001083062 RCV002393016 RCV004533075 RCV005239000
NM_024301.5(FKRP):c.364G>A (p.Ala122Thr)	SNV Germline	Chr19:46755814	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16616057	rs_1060502111	2 SubmittersRCV000462869 RCV004022697
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)	SNV Germline	Chr19:46755778	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy 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 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I 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 RCV000765451 RCV000991999 RCV001272539 RCV002446816 RCV003463910 RCV005027515 RCV005239030
NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter)	SNV Germline	Chr19:46756533	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA16616286	rs_1060502109	1 SubmittersRCV000461046
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)	SNV Germline	Chr9:131521439	Pathogenic	Condition: not provided 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	Criteria Provided Multiple Submitters No Conflicts	CA5293823	rs_761848742	3 SubmittersRCV000487062 RCV003464000 RCV002525809
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)	SNV Germline	Chr9:105635215	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	Criteria Provided Conflicting Classifications	CA5170613	rs_374912618	5 SubmittersRCV000498728 RCV001082102 RCV001167905 RCV001167906 RCV002383954
NM_001077365.2(POMT1):c.921G>T (p.Leu307=)	SNV Germline	Chr9:131511402	Conflicting classifications of pathogenicity	not specified 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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293476	rs_371243573	4 SubmittersRCV000499770 RCV000729146 RCV002056870 RCV004735576
NM_001077365.2(POMT1):c.1487-5G>T	SNV Germline	Chr9:131519384	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA5293728	rs_747783069	3 SubmittersRCV000504315 RCV002056869 RCV006436797
NM_001079802.2(FKTN):c.588C>T (p.Asp196=)	SNV Germline	Chr9:105604433	Conflicting classifications of pathogenicity	not specified Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA466659432	rs_1222153269	3 SubmittersRCV000516832 RCV001454192 RCV002358398
NM_001079802.2(FKTN):c.781-9T>C	SNV Germline	Chr9:105615269	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA5170496	rs_370564232	3 SubmittersRCV000519082 RCV001088310 RCV001797743
NM_001077365.2(POMT1):c.428-2A>G	SNV Germline	Chr9:131508909	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	Criteria Provided Multiple Submitters No Conflicts	CA375306861	rs_1554773448	2 SubmittersRCV000520999 RCV003766974
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)	SNV Germline	Chr9:131518533	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375311567	rs_1554780670	2 SubmittersRCV000548536 RCV003476298
NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn)	SNV Germline	Chr9:131518919	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5293697	rs_750937093	2 SubmittersRCV003767049 RCV005463016
NM_001079802.2(FKTN):c.822G>T (p.Arg274=)	SNV Germline	Chr9:105615319	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA197447945	rs_997235832	3 SubmittersRCV000534377 RCV002431565
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)	SNV Germline	Chr9:131518862	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA5293687	rs_746849558	2 SubmittersRCV000558807 RCV003459248
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser)	SNV Germline	Chr9:105601272	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Condition: not provided FKTN-related disorder not specified	Criteria Provided Conflicting Classifications	CA5170365	rs_376452959	7 SubmittersRCV000557459 RCV002438328 RCV003144321 RCV004537911 RCV006458502
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser)	SNV Germline	Chr9:131508971	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5293287	rs_182295674	5 SubmittersRCV000526210 RCV000732557 RCV006362462
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr)	SNV Germline	Chr19:46756550	Pathogenic	Walker-Warburg congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA406496647	rs_1555739020	2 SubmittersRCV000527187 RCV001093245
NM_001079802.2(FKTN):c.166-12T>A	SNV Germline	Chr9:105601133	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA658683547	rs_1419099088	2 SubmittersRCV000579368 RCV002060548
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 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA658683548	rs_1554754182	4 SubmittersRCV000587372 RCV000763612 RCV001217950 RCV003471945
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=)	SNV Germline	Chr9:131520166	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	Criteria Provided Conflicting Classifications	CA5293770	rs_200969468	2 SubmittersRCV000595211 RCV001086068
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)	SNV Germline	Chr9:105601312	Conflicting classifications of pathogenicity	Condition: not provided not specified Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170372	rs_141729611	5 SubmittersRCV000593541 RCV000780265 RCV001078678 RCV002325123
NM_001077365.2(POMT1):c.1749C>T (p.Leu583=)	SNV Germline	Chr9:131521396	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	Criteria Provided Conflicting Classifications	CA5293811	rs_755379319	2 SubmittersRCV000596333 RCV002062003
NM_024301.5(FKRP):c.1137G>T (p.Arg379=)	SNV Germline	Chr19:46756587	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA9532252	rs_761782258	2 SubmittersRCV000593367 RCV002062012
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)	SNV Germline	Chr19:46756273	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA406496081	rs_1247934219	6 SubmittersRCV000596371 RCV000674695 RCV000810990 RCV003459466
NM_001077365.2(POMT1):c.1698+10C>A	SNV Germline	Chr9:131520203	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 Walker-Warburg congenital muscular dystrophy POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293784	rs_184131819	5 SubmittersRCV000595892 RCV000712816 RCV001087695 RCV004735643
NM_024301.5(FKRP):c.703C>T (p.Leu235=)	SNV Germline	Chr19:46756153	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA507975862	rs_1428469954	4 SubmittersRCV000593445 RCV001405000 RCV002377231 RCV003994038
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)	SNV Germline	Chr9:131521393	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293810	rs_376373313	3 SubmittersRCV000594345 RCV001459502 RCV004543349
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 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 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170614	rs_374912618	8 SubmittersRCV000594573 RCV000634068 RCV000766042 RCV002384299
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=)	SNV Germline	Chr9:131522959	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	Criteria Provided Conflicting Classifications	CA5293922	rs_778418119	3 SubmittersRCV000598512 RCV001088943
NM_001079802.2(FKTN):c.198C>G (p.Ser66=)	SNV Germline	Chr9:105601177	Conflicting classifications of pathogenicity	not specified Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA466509377	rs_367868644	4 SubmittersRCV000595479 RCV000727064 RCV001078830
NM_001079802.2(FKTN):c.342A>G (p.Ala114=)	SNV Germline	Chr9:105601321	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170373	rs_368598407	5 SubmittersRCV000593496 RCV001088890 RCV002265815 RCV002456304
NM_024301.5(FKRP):c.336C>T (p.Ala112=)	SNV Germline	Chr19:46755786	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA309099249	rs_1054339656	4 SubmittersRCV000711661 RCV001464387 RCV002456306
NM_001077365.2(POMT1):c.1740G>A (p.Ser580=)	SNV Germline	Chr9:131521387	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	Criteria Provided Conflicting Classifications	CA5293809	rs_148758906	2 SubmittersRCV000594182 RCV003767395
NM_001079802.2(FKTN):c.357A>G (p.Leu119=)	SNV Germline	Chr9:105601336	Conflicting classifications of pathogenicity	not specified Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype FKTN-related disorder	Criteria Provided Conflicting Classifications	CA5170376	rs_760933616	7 SubmittersRCV000595119 RCV000727371 RCV001083865 RCV002460093 RCV004530711
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr)	SNV Germline	Chr19:46756813	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA406497215	rs_747785577	2 SubmittersRCV000591271 RCV002531091
NM_001079802.2(FKTN):c.166-9C>T	SNV Germline	Chr9:105601136	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy FKTN-related disorder	Criteria Provided Conflicting Classifications	CA590046763	rs_1361772036	3 SubmittersRCV000594841 RCV002532626 RCV004543380
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)	SNV Germline	Chr9:131506188	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 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 SubmittersRCV000591710 RCV000819538 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 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	CA375308747	rs_765230689	4 SubmittersRCV000595731 RCV000763189 RCV003767405 RCV003471965
NM_001079802.2(FKTN):c.1172+13T>C	SNV Germline	Chr9:105620074	Conflicting classifications of pathogenicity	not specified Walker-Warburg congenital muscular dystrophy FKTN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5170577	rs_768792475	6 SubmittersRCV000611590 RCV002064215 RCV004544768 RCV004705703
NM_001077365.2(POMT1):c.699+72T>C	SNV Germline	Chr9:131510068	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	Criteria Provided Conflicting Classifications	CA200784552	rs_200780140	2 SubmittersRCV000614427 RCV001860280
NM_001077365.2(POMT1):c.1825+6T>C	SNV Germline	Chr9:131521478	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	Criteria Provided Conflicting Classifications	CA590755029	rs_1366898427	2 SubmittersRCV000601191 RCV002532757
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)	SNV Germline	Chr9:131515460	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Multiple Submitters No Conflicts	CA375309889	rs_1554778005	3 SubmittersRCV000627277 RCV003459477 RCV006556467
NM_001077365.2(POMT1):c.30G>A (p.Val10=)	SNV Germline	Chr9:131504248	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	Criteria Provided Conflicting Classifications	CA5293130	rs_201533471	2 SubmittersRCV001504124 RCV000732620
NM_001079802.2(FKTN):c.30G>A (p.Leu10=)	SNV Germline	Chr9:105575062	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170289	rs_202047149	3 SubmittersRCV000732519 RCV001082721 RCV005338276
NM_001077365.2(POMT1):c.605+1G>C	SNV Germline	Chr9:131509809	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 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	Criteria Provided Multiple Submitters No Conflicts	CA375307262	rs_766648827	3 SubmittersRCV000648156 RCV003459544 RCV005046833
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)	SNV Germline	Chr9:131518502	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293658	rs_752384050	5 SubmittersRCV000648158 RCV000733057 RCV004594087 RCV004544878
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly)	SNV Germline	Chr9:105617967	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374377395	rs_267606814	2 SubmittersRCV000634078
NM_001077365.2(POMT1):c.426C>T (p.Ile142=)	SNV Germline	Chr9:131507513	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5293259	rs_771390000	2 SubmittersRCV000648167 RCV000712825
NM_001077365.2(POMT1):c.927C>T (p.Asn309=)	SNV Germline	Chr9:131511408	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Conflicting Classifications	CA375308551	rs_753694905	2 SubmittersRCV001166679 RCV002533345
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)	SNV Germline	Chr19:46756883	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA406497356	rs_1301397800	8 SubmittersRCV000634073 RCV000671168 RCV000731349 RCV003459515 RCV003488744 RCV005405215
NM_024301.5(FKRP):c.968G>A (p.Arg323His)	SNV Germline	Chr19:46756418	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 A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Conflicting Classifications	CA406496378	rs_1349031936	4 SubmittersRCV000634072 RCV000662004 RCV000662005 RCV001171504
NM_001079802.2(FKTN):c.1172+1G>A	SNV Germline	Chr9:105620062	Pathogenic/Likely pathogenic	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	CA374377990	rs_1554761462	3 SubmittersRCV000674388 RCV002531350 RCV003465537
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)	SNV Germline	Chr19:46755976	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 A5	Criteria Provided Multiple Submitters No Conflicts	CA406495500	rs_1555738502	3 SubmittersRCV000672053 RCV001868261 RCV003459634
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)	SNV Germline	Chr19:46756378	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA9532212	rs_765885747	8 SubmittersRCV000665088 RCV000760366 RCV001055645 RCV002369793 RCV002499146 RCV003226352 RCV003465438
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)	SNV Germline	Chr19:46755664	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA406494888	rs_1555738201	3 SubmittersRCV000671226 RCV003754883 RCV005639181
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)	SNV Germline	Chr19:46756228	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA406495998	rs_1555738753	4 SubmittersRCV000669672 RCV002499167 RCV001855524 RCV003459613
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)	SNV Germline	Chr19:46756477	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA406496501	rs_587780334	3 SubmittersRCV000668106 RCV001554930 RCV002530737
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)	SNV Germline	Chr19:46756834	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA9532308	rs_768606230	8 SubmittersRCV000671396 RCV001573804 RCV003323674 RCV002531280 RCV005562429
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys)	SNV Germline	Chr19:46756868	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2I 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA9532317	rs_752243337	4 SubmittersRCV000664689 RCV002530634 RCV005411530 RCV006552662
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)	SNV Germline	Chr19:46755716	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA9532135	rs_770711331	7 SubmittersRCV000665956 RCV000700227 RCV001784236 RCV002499150 RCV004568497 RCV004993923
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)	SNV Germline	Chr19:46756462	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA406496467	rs_1173430388	5 SubmittersRCV000669472 RCV001868232 RCV003488793 RCV005860123 RCV005870753
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)	SNV Germline	Chr19:46756466	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Cardiovascular phenotype Walker-Warburg congenital muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA406496474	rs_1450841129	5 SubmittersRCV000674783 RCV000735132 RCV002343423 RCV002531360 RCV006268941
NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser)	SNV Germline	Chr9:105575046	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170284	rs_751473818	3 SubmittersRCV000687790 RCV004026276
NM_001077365.2(POMT1):c.1272+2T>C	SNV Germline	Chr9:131515524	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 Myopathy caused by variation in POMT1	Criteria Provided Multiple Submitters No Conflicts	CA375310225	rs_1564365317	2 SubmittersRCV000703521 RCV006257315
NM_001077365.2(POMT1):c.987-2A>C	SNV Germline	Chr9:131512039	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA375308733	rs_1453773610	1 SubmittersRCV000704477
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_024301.5(FKRP):c.291C>T (p.Pro97=)	SNV Germline	Chr19:46755741	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA507975388	rs_1215872713	3 SubmittersRCV000711660 RCV001484192 RCV003380703
NM_001077365.2(POMT1):c.123-6T>C	SNV Germline	Chr9:131506108	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	Criteria Provided Conflicting Classifications	CA5293166	rs_201486083	2 SubmittersRCV000728533 RCV001407774
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)	SNV Germline	Chr9:131522989	Conflicting classifications of pathogenicity	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 POMT1-related disorder not specified	Criteria Provided Conflicting Classifications	CA5293925	rs_200916353	4 SubmittersRCV000728764 RCV001506219 RCV004540038 RCV004997256
NM_001079802.2(FKTN):c.393G>A (p.Glu131=)	SNV Germline	Chr9:105604238	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA466659319	rs_1472560195	4 SubmittersRCV000728769 RCV002369989 RCV003754886
NM_001077365.2(POMT1):c.699+67G>A	SNV Germline	Chr9:131510063	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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293387	rs_776061161	5 SubmittersRCV000729095 RCV001379440 RCV002282347 RCV003465659 RCV005223149
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=)	SNV Germline	Chr9:105635057	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170590	rs_369117043	3 SubmittersRCV000729524 RCV001416966 RCV003303210
NM_001077365.2(POMT1):c.141T>C (p.Tyr47=)	SNV Germline	Chr9:131506132	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA5293174	rs_752941420	2 SubmittersRCV000730249 RCV002060990
NM_001079802.2(FKTN):c.911-1G>A	SNV Germline	Chr9:105617958	Pathogenic/Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA197450119	rs_958678700	3 SubmittersRCV000731141 RCV001855755 RCV003465665
NM_001079802.2(FKTN):c.369+1G>C	SNV Germline	Chr9:105601349	Pathogenic/Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy 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	Criteria Provided Multiple Submitters No Conflicts	CA5170377	rs_764125009	3 SubmittersRCV000732554 RCV001868977 RCV005046998
NM_024301.5(FKRP):c.1236C>T (p.His412=)	SNV Germline	Chr19:46756686	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype FKRP-related disorder	Criteria Provided Conflicting Classifications	CA9532279	rs_201076863	5 SubmittersRCV000732907 RCV001086434 RCV001830628 RCV002360859 RCV004535860
NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)	SNV Germline	Chr19:46755714	Pathogenic/Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA406494991	rs_1057520771	4 SubmittersRCV000733489 RCV005056493 RCV004569418 RCV006342519
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 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	CA5293502	rs_756973046	4 SubmittersRCV000734638 RCV003465669 RCV006556603
NM_001077365.2(POMT1):c.1194C>A (p.Pro398=)	SNV Germline	Chr9:131515444	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA5293580	rs_371653610	2 SubmittersRCV000734808 RCV001087469
NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter)	SNV Germline	Chr9:105601339	Pathogenic/Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA374331819	rs_1564284467	2 SubmittersRCV000760654 RCV001855930
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)	SNV Germline	Chr9:105607927	Pathogenic/Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA374332691	rs_1564301594	4 SubmittersRCV000760735 RCV001855931 RCV003166018 RCV003472283
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)	SNV Germline	Chr9:105635054	Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA374378010	rs_1203741361	3 SubmittersRCV000760536 RCV002536580 RCV003465678
NM_001077365.2(POMT1):c.1698+1G>A	SNV Germline	Chr9:131520194	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K 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_001079802.2(FKTN):c.868A>T (p.Lys290Ter)	SNV Germline	Chr9:105615365	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374377273	rs_1438288380	1 SubmittersRCV000814549
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)	SNV Germline	Chr9:105620042	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA374377944	rs_1588222602	2 SubmittersRCV000804630 RCV003467404
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)	SNV Germline	Chr9:131511459	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter	CA375308694	rs_1588391612	1 SubmittersRCV000815478
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)	SNV Germline	Chr19:46756383	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA309099616	rs_911700598	3 SubmittersRCV000813120 RCV002478891 RCV002372288
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)	SNV Germline	Chr19:46756746	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA406497073	rs_1599939853	2 SubmittersRCV000810942 RCV002507413
NM_001079802.2(FKTN):c.780+2T>C	SNV Germline	Chr9:105607953	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374332747	rs_1588136441	1 SubmittersRCV000812826
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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA5293206	rs_746823238	8 SubmittersRCV000853233 RCV001683668 RCV001869305
NM_001079802.2(FKTN):c.207T>C (p.Asn69=)	SNV Germline	Chr9:105601186	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170357	rs_752921570	9 SubmittersRCV000870044 RCV001087923 RCV001167249 RCV001167250 RCV001816991 RCV003380765
NM_001079802.2(FKTN):c.1185G>T (p.Pro395=)	SNV Germline	Chr9:105635063	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170592	rs_141886790	2 SubmittersRCV000942805 RCV002332939
NM_001077365.2(POMT1):c.427+8C>T	SNV Germline	Chr9:131507522	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	Criteria Provided Conflicting Classifications	CA200779428	rs_201727519	2 SubmittersRCV000999248 RCV003769373
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)	SNV Germline	Chr9:105607829	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA5170467	rs_754081311	2 SubmittersRCV001044980
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)	SNV Germline	Chr9:105607937	Conflicting classifications of pathogenicity	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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA5170477	rs_377417974	7 SubmittersRCV001044487 RCV002479277 RCV003473630 RCV004994200 RCV005633833
NM_024301.5(FKRP):c.125C>G (p.Ala42Gly)	SNV Germline	Chr19:46755575	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9532115	rs_768215450	2 SubmittersRCV001048305 RCV004031500
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)	SNV Germline	Chr19:46755773	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA309099247	rs_936866997	6 SubmittersRCV001063677 RCV001336095 RCV001275309 RCV002320323 RCV002462309
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)	SNV Germline	Chr19:46756586	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 A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Conflicting Classifications	CA309099778	rs_140217866	3 SubmittersRCV001056582 RCV001832510 RCV005021388
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)	SNV Germline	Chr9:105607835	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Cardiovascular phenotype Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA374332493	rs_1293245717	3 SubmittersRCV001167832 RCV001167833 RCV002365819 RCV002559606
NM_001079802.2(FKTN):c.705A>G (p.Pro235=)	SNV Germline	Chr9:105607876	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA466511877	rs_1829190548	2 SubmittersRCV001169707 RCV001169706 RCV001485169
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile)	SNV Germline	Chr9:131518529	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200794964	rs_1008021925	5 SubmittersRCV001166234 RCV001371364 RCV002254953 RCV005463275
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=)	SNV Germline	Chr9:131519483	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA467423605	rs_1378023866	2 SubmittersRCV001166759 RCV003769808
NM_001077365.2(POMT1):c.606-15G>C	SNV Germline	Chr9:131509888	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 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA5293351	rs_201897506	2 SubmittersRCV001166183 RCV002067809
NM_001077365.2(POMT1):c.1083-7C>G	SNV Germline	Chr9:131513232	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 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA860568022	rs_1428085460	2 SubmittersRCV001168412 RCV003769821
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)	SNV Germline	Chr19:46756412	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy type B5 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Myopathy caused by variation in FKRP	Criteria Provided Multiple Submitters No Conflicts	CA9532217	rs_745882222	4 SubmittersRCV001196908 RCV002561048 RCV003469313 RCV005633930
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)	SNV Germline	Chr9:105635203	Conflicting classifications of pathogenicity	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 without intellectual disability), type B4 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 not specified Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA374378341	rs_1429464723	6 SubmittersRCV005040033 RCV003473771 RCV001729816 RCV004587076 RCV001218466
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter)	SNV Germline	Chr19:46756533	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA406496611	rs_1060502109	4 SubmittersRCV001222642 RCV003145418 RCV003469385 RCV005572500
NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)	SNV Germline	Chr9:131518928	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA375312051	rs_1191391104	1 SubmittersRCV001205242
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)	SNV Germline	Chr19:46756195	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9532196	rs_757955092	5 SubmittersRCV001208376 RCV003145380 RCV001833831 RCV004033726
NM_001077365.2(POMT1):c.1699-1G>A	SNV Germline	Chr9:131521345	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA375313543	rs_1949874222	1 SubmittersRCV001217576
NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter)	SNV Germline	Chr9:105601346	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA374331839	rs_1376019203	2 SubmittersRCV001231637 RCV003469417
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)	SNV Germline	Chr9:131506437	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	CA375305860	rs_1945827957	2 SubmittersRCV001228965 RCV004570568
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys)	SNV Germline	Chr9:131515476	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA375310006	rs_1948104184	1 SubmittersRCV001235411
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 (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 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA309099387	rs_921883036	4 SubmittersRCV001226232 RCV001828806 RCV002484228 RCV004032565
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter)	SNV Germline	Chr9:105635054	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA374378009	rs_1203741361	5 SubmittersRCV001245464 RCV001780185 RCV002327598 RCV003469473
NM_024301.5(FKRP):c.478G>T (p.Val160Phe)	SNV Germline	Chr19:46755928	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406495405	rs_1314476567	1 SubmittersRCV001247136
NM_001077365.2(POMT1):c.229+2T>C	SNV Germline	Chr9:131506222	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375305773	rs_1945782278	2 SubmittersRCV001225759 RCV003473785
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)	SNV Germline	Chr9:131506160	Pathogenic	Dysgenesis of the cerebellar vermis 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	CA375305638	rs_1945766589	2 SubmittersRCV001257391 RCV003770344
NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser)	SNV Germline	Chr22:46436281	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Severe NDD	Criteria Provided Conflicting Classifications	CA325144825	rs_931374138	2 SubmittersRCV001267716 RCV005624170
NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu)	SNV Germline	Chr9:105635090	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5170596	rs_776724595	5 SubmittersRCV001289425 RCV001835377 RCV004035571
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)	SNV Germline	Chr19:46755655	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy 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	CA309099225	rs_990847012	5 SubmittersRCV001295759 RCV001830129 RCV002418887 RCV002493553
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala)	SNV Germline	Chr19:46756396	Likely pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Single Submitter	CA406496337	rs_28937901	2 SubmittersRCV001327126 RCV001831029
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys)	SNV Germline	Chr9:131519478	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided	Criteria Provided Conflicting Classifications	CA375312967	rs_1949475355	2 SubmittersRCV001350879 RCV001773704
NM_001079802.2(FKTN):c.370-2A>T	SNV Germline	Chr9:105604213	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374331851	rs_1554752805	1 SubmittersRCV001376963
NM_001079802.2(FKTN):c.647+1G>A	SNV Germline	Chr9:105604493	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374332448	rs_2132802825	1 SubmittersRCV001379141
NM_001077365.2(POMT1):c.427+1G>A	SNV Germline	Chr9:131507515	Pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA5293261	rs_760071332	1 SubmittersRCV001378932
NM_001077365.2(POMT1):c.1176-2A>G	SNV Germline	Chr9:131515424	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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Thyroid cancer, nonmedullary, 1 Ovarian serous cystadenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA5293574	rs_746523421	5 SubmittersRCV001377161 RCV001780280 RCV003462945 RCV005912588 RCV005912587
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)	SNV Germline	Chr19:46755679	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA309099226	rs_1051900223	3 SubmittersRCV001379447 RCV001826153 RCV002447504
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile)	SNV Germline	Chr19:46756838	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA406497262	rs_2122636612	2 SubmittersRCV001377089 RCV002395858
NM_001079802.2(FKTN):c.93T>A (p.Tyr31Ter)	SNV Germline	Chr9:105575125	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374330978	rs_2132018294	1 SubmittersRCV001385917
NM_001079802.2(FKTN):c.406C>T (p.Gln136Ter)	SNV Germline	Chr9:105604251	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374331937	rs_2132792099	2 SubmittersRCV001385166
NM_001079802.2(FKTN):c.914G>A (p.Trp305Ter)	SNV Germline	Chr9:105617962	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374377382	rs_2133160637	1 SubmittersRCV001382875
NM_024301.5(FKRP):c.1A>C (p.Met1Leu)	SNV Germline	Chr19:46755451	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406494470	rs_587777223	1 SubmittersRCV001384814
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_001079802.2(FKTN):c.648-4T>C	SNV Germline	Chr9:105607815	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1127711290	rs_1829177357	2 SubmittersRCV001487507 RCV004037283
NM_024301.5(FKRP):c.935G>T (p.Arg312Leu)	SNV Germline	Chr19:46756385	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Abnormality of the musculature	Criteria Provided Conflicting Classifications	CA309099625	rs_868138875	2 SubmittersRCV001873816 RCV001814552
NM_024301.5(FKRP):c.1012G>C (p.Val338Leu)	SNV Germline	Chr19:46756462	Pathogenic/Likely pathogenic	Abnormality of the musculature Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA406496466	rs_1173430388	2 SubmittersRCV001814334 RCV001873810
NM_024301.5(FKRP):c.1034G>C (p.Gly345Ala)	SNV Germline	Chr19:46756484	Pathogenic/Likely pathogenic	Abnormality of the musculature Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA406496517	rs_1249694833	2 SubmittersRCV001814462 RCV005094752
NM_001077365.2(POMT1):c.1272+1G>A	SNV Germline	Chr9:131515523	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Multiple Submitters No Conflicts	CA375310220	rs_2131751359	3 SubmittersRCV001553600 RCV003474006 RCV003771694
NM_024301.5(FKRP):c.282C>T (p.Pro94=)	SNV Germline	Chr19:46755732	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA507975369	rs_1267805674	2 SubmittersRCV001563828 RCV001563918 RCV001563919 RCV002072148
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)	SNV Germline	Chr19:46756304	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 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	Criteria Provided Conflicting Classifications	CA309099522	rs_963039919	4 SubmittersRCV001563923 RCV001563925 RCV001563924 RCV001882663 RCV005409827
NM_001079802.2(FKTN):c.1173A>G (p.Lys391=)	SNV Germline	Chr9:105635051	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA466518132	rs_2133450404	2 SubmittersRCV001567622 RCV002570764
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)	SNV Germline	Chr9:131509930	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Multiple Submitters No Conflicts	CA5293362	rs_747129906	2 SubmittersRCV001784872 RCV002544255
NM_001077365.2(POMT1):c.314G>A (p.Arg105His)	SNV Germline	Chr9:131507401	Likely pathogenic	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 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	CA5293229	rs_1554772469	3 SubmittersRCV003772194 RCV004529018 RCV005040388
NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln)	SNV Germline	Chr9:131521446	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA5293829	rs_753485021	3 SubmittersRCV001869855 RCV001840846
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)	SNV Germline	Chr19:46756096	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2I not specified	Criteria Provided Conflicting Classifications	CA406495729	rs_2054912295	4 SubmittersRCV001977891 RCV002361338 RCV002464501 RCV003331255
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_001079802.2(FKTN):c.106-1G>C	SNV Germline	Chr9:105596597	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374331020	rs_2132594628	1 SubmittersRCV002029731
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)	SNV Germline	Chr19:46756511	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Cardiovascular phenotype Intellectual disability	Criteria Provided Conflicting Classifications	CA9532238	rs_781414509	4 SubmittersRCV001898738 RCV002490215 RCV002407033 RCV005626538
NM_001077365.2(POMT1):c.605+1G>T	SNV Germline	Chr9:131509809	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA5293333	rs_766648827	1 SubmittersRCV001964400
NM_001079802.2(FKTN):c.942T>G (p.Tyr314Ter)	SNV Germline	Chr9:105617990	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374377447	rs_970907026	1 SubmittersRCV002007224
NM_024301.5(FKRP):c.1253G>A (p.Trp418Ter)	SNV Germline	Chr19:46756703	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA9532282	rs_746533953	1 SubmittersRCV002035498
NM_024301.5(FKRP):c.151G>T (p.Val51Phe)	SNV Germline	Chr19:46755601	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406494761	rs_769377092	1 SubmittersRCV001962936
NM_001079802.2(FKTN):c.369+1G>A	SNV Germline	Chr9:105601349	Likely pathogenic	Walker-Warburg congenital muscular dystrophy Condition: not provided Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA374331845	rs_764125009	3 SubmittersRCV002040551 RCV003491012 RCV004571967
NM_001077365.2(POMT1):c.699+67G>T	SNV Germline	Chr9:131510063	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA375307608	rs_776061161	2 SubmittersRCV002033289 RCV003475110
NM_001077365.2(POMT1):c.1585-2A>G	SNV Germline	Chr9:131520078	Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter	CA375312995	rs_2131880195	1 SubmittersRCV002036317
NM_024301.5(FKRP):c.161G>A (p.Arg54Gln)	SNV Germline	Chr19:46755611	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406494776	rs_2122609879	1 SubmittersRCV002049182
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 (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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Conflicting Classifications	CA406495822	rs_2122621481	4 SubmittersRCV002014233 RCV002479773 RCV003491014 RCV003471265
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 intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375306235	rs_1289335417	3 SubmittersRCV002019789 RCV003464372 RCV005042665
NM_024301.5(FKRP):c.877A>G (p.Thr293Ala)	SNV Germline	Chr19:46756327	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496199	rs_2122625896	1 SubmittersRCV002006464
NM_024301.5(FKRP):c.1388A>G (p.Asn463Ser)	SNV Germline	Chr19:46756838	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406497263	rs_2122636612	1 SubmittersRCV002040974
NM_024301.5(FKRP):c.892G>T (p.Gly298Ter)	SNV Germline	Chr19:46756342	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA406496232	rs_886043401	2 SubmittersRCV001929734 RCV004571449
NM_001079802.2(FKTN):c.106-5C>A	SNV Germline	Chr9:105596593	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA589857821	rs_1338220455	2 SubmittersRCV002078762 RCV004046419
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 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 intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Thymoma	Criteria Provided Multiple Submitters No Conflicts	CA200785779	rs_961071228	5 SubmittersRCV002250254 RCV002496183 RCV003094035 RCV005930062
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 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5293388	rs_759254028	4 SubmittersRCV002271903 RCV003464426 RCV003774862 RCV004017915
NM_024301.5(FKRP):c.1015C>G (p.Arg339Gly)	SNV Germline	Chr19:46756465	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Conflicting Classifications	CA406496471	rs_2122629515	2 SubmittersRCV002300345 RCV005409873
NM_001079802.2(FKTN):c.106-2A>C	SNV Germline	Chr9:105596596	Conflicting classifications of pathogenicity	Cardiovascular phenotype Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA374331016	rs_1554748292	2 SubmittersRCV002410137 RCV003097264
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)	SNV Germline	Chr19:46756828	Pathogenic/Likely pathogenic	Cardiovascular phenotype Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA406497244	rs_2513999711	2 SubmittersRCV002381099 RCV003591949
NM_024301.5(FKRP):c.160C>G (p.Arg54Gly)	SNV Germline	Chr19:46755610	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA309099208	rs_28937905	1 SubmittersRCV003041375
NM_024301.5(FKRP):c.961G>A (p.Ala321Thr)	SNV Germline	Chr19:46756411	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Myopathy caused by variation in FKRP	Criteria Provided Conflicting Classifications	CA406496366	rs_1300365457	2 SubmittersRCV003067994 RCV005636702
NM_024301.5(FKRP):c.1221C>G (p.Tyr407Ter)	SNV Germline	Chr19:46756671	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496902	rs_1462094685	1 SubmittersRCV002598598
NM_024301.5(FKRP):c.1055G>C (p.Arg352Pro)	SNV Germline	Chr19:46756505	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496551	rs_2513996082	1 SubmittersRCV002632739
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)	SNV Germline	Chr19:46756384	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 A5 not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA406496314	rs_2054923228	4 SubmittersRCV002593065 RCV003224635 RCV004801225 RCV005842006
NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)	SNV Germline	Chr19:46756142	Pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Multiple Submitters No Conflicts	CA406495818	rs_2513991038	2 SubmittersRCV002635425 RCV005019295
NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)	SNV Germline	Chr19:46756882	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406497353	rs_2514000287	1 SubmittersRCV002636169
NM_024301.5(FKRP):c.1100T>A (p.Ile367Asn)	SNV Germline	Chr19:46756550	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496646	rs_1555739020	1 SubmittersRCV002672165
NM_024301.5(FKRP):c.1389C>A (p.Asn463Lys)	SNV Germline	Chr19:46756839	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406497264	rs_765591278	1 SubmittersRCV002725323
NM_024301.5(FKRP):c.985G>A (p.Val329Met)	SNV Germline	Chr19:46756435	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496413	rs_1179406638	1 SubmittersRCV002710932
NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)	SNV Germline	Chr9:105596656	Pathogenic/Likely pathogenic	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	Criteria Provided Multiple Submitters No Conflicts	CA374331145	rs_1826858068	2 SubmittersRCV002735392 RCV005050630
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)	SNV Germline	Chr9:131512115	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA375308913	rs_1947244829	1 SubmittersRCV002791664
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)	SNV Germline	Chr9:131509012	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA375307086	rs_746247204	1 SubmittersRCV002815003
NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)	SNV Germline	Chr9:131523069	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA375315388	rs_2539514312	1 SubmittersRCV002815007
NM_001079802.2(FKTN):c.369+2T>G	SNV Germline	Chr9:105601350	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374331848	rs_2539338375	1 SubmittersRCV002838890
NM_001077365.2(POMT1):c.987-2A>G	SNV Germline	Chr9:131512039	Likely pathogenic	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	CA375308734	rs_1453773610	1 SubmittersRCV002846242
NM_001079802.2(FKTN):c.780+2T>A	SNV Germline	Chr9:105607953	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374332745	rs_1588136441	1 SubmittersRCV002833721
NM_001079802.2(FKTN):c.630T>A (p.Tyr210Ter)	SNV Germline	Chr9:105604475	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374332407	rs_2539414072	1 SubmittersRCV002870855
NM_001079802.2(FKTN):c.648-2A>G	SNV Germline	Chr9:105607817	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374332453	rs_2539490128	1 SubmittersRCV002862726
NM_001079802.2(FKTN):c.911-2A>C	SNV Germline	Chr9:105617957	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374377371	rs_2539708151	1 SubmittersRCV002863858
NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)	SNV Germline	Chr19:46756385	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496317	rs_868138875	1 SubmittersRCV002913462
NM_024301.5(FKRP):c.863G>T (p.Gly288Val)	SNV Germline	Chr19:46756313	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496166	rs_2513993372	1 SubmittersRCV002942360
NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)	SNV Germline	Chr9:105620006	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Dilated cardiomyopathy 1X	Criteria Provided Multiple Submitters No Conflicts	CA374377857	rs_2539750587	2 SubmittersRCV003015115 RCV003465898
NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)	SNV Germline	Chr9:131518861	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA5293686	rs_376126988	1 SubmittersRCV003039275
NM_024301.5(FKRP):c.1385C>T (p.Pro462Leu)	SNV Germline	Chr19:46756835	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406497258	rs_2513999779	1 SubmittersRCV003044842
NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)	SNV Germline	Chr9:131509985	Conflicting classifications of pathogenicity	Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA5293371	rs_776314368	2 SubmittersRCV003261083 RCV003779940
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 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	CA5293500	rs_578199793	2 SubmittersRCV003463358 RCV003779070
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)	SNV Germline	Chr9:131506153	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy 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	Criteria Provided Multiple Submitters No Conflicts	CA375305617	rs_1945764912	3 SubmittersRCV003472483 RCV003779073 RCV005047605
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_024301.5(FKRP):c.1000G>T (p.Glu334Ter)	SNV Germline	Chr19:46756450	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA406496442	rs_2054926451	2 SubmittersRCV003468197 RCV005100168
NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)	SNV Germline	Chr19:46755667	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA406494896	rs_2513986224	2 SubmittersRCV003468201 RCV003755044
NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)	SNV Germline	Chr9:105575081	Likely pathogenic	Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA374330877	rs_1272573854	4 SubmittersRCV003476406 RCV005047596 RCV006455661 RCV006473229
NM_001079802.2(FKTN):c.166-1G>A	SNV Germline	Chr9:105601144	Likely pathogenic	Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA374331384	rs_1218736157	2 SubmittersRCV003468213 RCV003592044
NM_001079802.2(FKTN):c.910+1G>C	SNV Germline	Chr9:105615408	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA374377366	rs_2539659214	2 SubmittersRCV003476410 RCV003755045
NM_024301.5(FKRP):c.930G>A (p.Glu310=)	SNV Germline	Chr19:46756380	Conflicting classifications of pathogenicity	Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA507976405	rs_1288927267	2 SubmittersRCV003482689 RCV003779228
NM_001079802.2(FKTN):c.745G>T (p.Glu249Ter)	SNV Germline	Chr9:105607916	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374332667	rs_2539494607	1 SubmittersRCV003592882
NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)	SNV Germline	Chr19:46755715	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy 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	CA406494993	rs_1293404628	3 SubmittersRCV003593251 RCV004574085 RCV005616669
NM_001079802.2(FKTN):c.781-1G>A	SNV Germline	Chr9:105615277	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374377079	rs_1830619461	1 SubmittersRCV003593308
NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)	SNV Germline	Chr19:46755800	Likely pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA309099259	rs_941905630	2 SubmittersRCV003593341 RCV006454445
NM_001079802.2(FKTN):c.844C>T (p.Gln282Ter)	SNV Germline	Chr9:105615341	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374377222	rs_2539657496	1 SubmittersRCV003591580
NM_024301.5(FKRP):c.1125C>A (p.Cys375Ter)	SNV Germline	Chr19:46756575	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496703	rs_2513996914	1 SubmittersRCV003755467
NM_024301.5(FKRP):c.587G>T (p.Gly196Val)	SNV Germline	Chr19:46756037	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406495617	rs_2513989754	1 SubmittersRCV003755395
NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)	SNV Germline	Chr19:46756466	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496475	rs_1450841129	1 SubmittersRCV003755680
NM_001079802.2(FKTN):c.165G>A (p.Trp55Ter)	SNV Germline	Chr9:105596657	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374331148	rs_1458332751	1 SubmittersRCV003755809
NM_001079802.2(FKTN):c.165+1G>T	SNV Germline	Chr9:105596658	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA374331151	rs_774922597	1 SubmittersRCV003755973
NM_024301.5(FKRP):c.857G>A (p.Trp286Ter)	SNV Germline	Chr19:46756307	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496151	rs_2513993243	1 SubmittersRCV003755909
NM_024301.5(FKRP):c.1339C>T (p.Gln447Ter)	SNV Germline	Chr19:46756789	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406497170	rs_2513999258	1 SubmittersRCV003756017
NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)	SNV Germline	Chr19:46756390	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA406496327	rs_2513994340	1 SubmittersRCV003756068
NM_001077365.2(POMT1):c.856-2A>G	SNV Germline	Chr9:131511335	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA5293471	rs_199927735	1 SubmittersRCV003783725
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)	SNV Germline	Chr9:131522172	Pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA375314576	rs_2539477272	1 SubmittersRCV003798174
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)	SNV Germline	Chr9:131507514	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA5293260	rs_777149559	1 SubmittersRCV003780596
NM_001077365.2(POMT1):c.1825+2T>C	SNV Germline	Chr9:131521474	Likely pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA375314059	rs_2539455086	1 SubmittersRCV003793280
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)	SNV Germline	Chr9:131504225	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA375305029	rs_371821873	1 SubmittersRCV003789429
NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)	SNV Germline	Chr9:131518929	Pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter	CA375312055	rs_1949320441	1 SubmittersRCV003803374
NM_001077365.2(POMT1):c.1273-2A>G	SNV Germline	Chr9:131518443	Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter	CA375311038	rs_2539363727	1 SubmittersRCV003800866
NM_001077365.2(POMT1):c.539+2T>C	SNV Germline	Chr9:131509024	Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter	CA375307117	rs_2539114783	1 SubmittersRCV003807309
NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)	SNV Germline	Chr9:131518863	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA375311814	rs_1178838681	1 SubmittersRCV003810451
NM_024301.5(FKRP):c.1077G>A (p.Trp359Ter)	SNV Germline	Chr19:46756527	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_2054929597	2 SubmittersRCV004576607 RCV005101930
NM_001079802.2(FKTN):c.1045-6C>G	SNV Germline	Chr9:105619928	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005048857 RCV005105316
NM_001079802.2(FKTN):c.1173-1G>T	SNV Germline	Chr9:105635050	Conflicting classifications of pathogenicity	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 Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications			2 SubmittersRCV005043651 RCV006489283
NM_024301.5(FKRP):c.1213G>C (p.Val405Leu)	SNV Germline	Chr19:46756663	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005108166
NM_024301.5(FKRP):c.1181G>A (p.Trp394Ter)	SNV Germline	Chr19:46756631	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005115845
NM_024301.5(FKRP):c.155T>C (p.Leu52Pro)	SNV Germline	Chr19:46755605	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005130219
NM_001079802.2(FKTN):c.781C>T (p.Gln261Ter)	SNV Germline	Chr9:105615278	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005131701
NM_024301.5(FKRP):c.862G>A (p.Gly288Ser)	SNV Germline	Chr19:46756312	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV005144100 RCV005407391
NM_001079802.2(FKTN):c.676G>T (p.Gly226Ter)	SNV Germline	Chr9:105607847	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005172949
NM_024301.5(FKRP):c.862G>C (p.Gly288Arg)	SNV Germline	Chr19:46756312	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005181467
NM_001079802.2(FKTN):c.1134G>A (p.Trp378Ter)	SNV Germline	Chr9:105620023	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005177027
NM_024301.5(FKRP):c.1087G>C (p.Val363Leu)	SNV Germline	Chr19:46756537	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005195019
NM_001077365.2(POMT1):c.780C>G (p.Tyr260Ter)	SNV Germline	Chr9:131510340	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter			1 SubmittersRCV005223345
NM_001077365.2(POMT1):c.428-1G>C	SNV Germline	Chr9:131508910	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter			1 SubmittersRCV005219393
NM_001077365.2(POMT1):c.987-1G>A	SNV Germline	Chr9:131512040	Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter			1 SubmittersRCV005215080
NM_001077365.2(POMT1):c.1236T>A (p.Tyr412Ter)	SNV Germline	Chr9:131515486	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter			1 SubmittersRCV005212580
NM_024301.5(FKRP):c.934C>A (p.Arg312Ser)	SNV Germline	Chr19:46756384	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			2 SubmittersRCV005613675 RCV006613591
NM_024301.5(FKRP):c.1214T>A (p.Val405Glu)	SNV Germline	Chr19:46756664	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006504215
NM_024301.5(FKRP):c.1078G>A (p.Asp360Asn)	SNV Germline	Chr19:46756528	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006494749
NM_001079802.2(FKTN):c.998T>A (p.Leu333Ter)	SNV Germline	Chr9:105618046	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006497770
NM_024301.5(FKRP):c.1309C>T (p.Gln437Ter)	SNV Germline	Chr19:46756759	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006514286
NM_024301.5(FKRP):c.1015C>T (p.Arg339Cys)	SNV Germline	Chr19:46756465	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006543221
NM_024301.5(FKRP):c.1385C>G (p.Pro462Arg)	SNV Germline	Chr19:46756835	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006543223
NM_001079802.2(FKTN):c.577G>T (p.Glu193Ter)	SNV Germline	Chr9:105604422	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006576240
NM_001077365.2(POMT1):c.699+46C>T	SNV Germline	Chr9:131510042	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter			1 SubmittersRCV006598928
NM_024301.5(FKRP):c.836G>A (p.Trp279Ter)	SNV Germline	Chr19:46756286	Pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006626853
NM_024301.5(FKRP):c.1213G>A (p.Val405Met)	SNV Germline	Chr19:46756663	Likely pathogenic	Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006621564

NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)

SNV
Germline

Chr9:105596631

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA116054

rs_119463990

12 SubmittersRCV000003353 RCV000594458 RCV000811518 RCV003472962 RCV003372594

NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)

SNV
Germline

Chr9:105601325

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA116066

rs_119463991

6 SubmittersRCV000003360 RCV001067436 RCV003472963 RCV005562298

NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)

SNV
Germline

Chr9:105617968

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116072

rs_119463992

10 SubmittersRCV000003362 RCV000724028 RCV001036532 RCV001192872 RCV001254647 RCV003466793 RCV004991964 RCV005041974 RCV006261717

NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr)

SNV
Germline

Chr9:105604381

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1X
Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA252619

rs_119463994

4 SubmittersRCV000003365 RCV000441410 RCV002512702

NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)

SNV
Germline

Chr9:105601319

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA116076

rs_119463995

3 SubmittersRCV000003368 RCV000675045 RCV001851612

NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)

SNV
Germline

Chr9:105604354

Likely pathogenic

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

CA116080

rs_119464997

3 SubmittersRCV000003369 RCV003591619 RCV003472964

NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)

SNV
Germline

Chr9:105620001

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Condition: not provided
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

Criteria Provided
Conflicting Classifications

CA116084

rs_119464998

10 SubmittersRCV000003370 RCV000554503 RCV002433443 RCV004566677 RCV003466794 RCV005632154 RCV005041975

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

SNV
Germline

Chr9:105617967

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116088

rs_267606814

13 SubmittersRCV000003371 RCV000498134 RCV000795218 RCV002444418 RCV003466795 RCV004819203 RCV005003319

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
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

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
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
Abnormality of the nervous system
Autosomal recessive limb-girdle muscular dystrophy
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

Criteria Provided
Multiple Submitters
No Conflicts

CA203493

rs_119462982

12 SubmittersRCV000003399 RCV000179928 RCV001385876 RCV001264826 RCV001813942 RCV003234890 RCV003472966 RCV005357065

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116108

rs_119462983

4 SubmittersRCV002512705 RCV002286389 RCV003460408 RCV005887254

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

SNV
Germline

Chr9:131518945

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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
Multiple Submitters
No Conflicts

CA116110

rs_119462985

5 SubmittersRCV000760355 RCV001851614 RCV002286390 RCV005041976

NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)

SNV
Germline

Chr9:131521351

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA116112

rs_119462986

4 SubmittersRCV000175324 RCV002286391 RCV003764522 RCV006456598

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
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

CA116114

rs_119462987

8 SubmittersRCV000414180 RCV000694423 RCV002286394 RCV003460409

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

SNV
Germline

Chr9:131513332

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA200787505

rs_1051679985

4 SubmittersRCV001383583 RCV002286395 RCV003472967 RCV005055502

NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)

SNV
Germline

Chr19:46756376

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Conflicting Classifications

CA116695

rs_104894679

4 SubmittersRCV001851646 RCV002226438 RCV003144103 RCV003466806

NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)

SNV
Germline

Chr19:46756604

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
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
Multiple Submitters
No Conflicts

CA116697

rs_104894680

6 SubmittersRCV000634067 RCV002226439 RCV003137491 RCV003460427 RCV003352746 RCV005025007

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

SNV
Germline

Chr19:46756793

Pathogenic/Likely pathogenic

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
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
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
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
8 conditions
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Myopathy
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype
Myopathy caused by variation in FKRP
FKRP-related disorder
Neuronopathy, distal hereditary motor, type 2B
FKRP-related muscular dystrophy-dystroglycanopathy
Hereditary skeletal muscle disorder
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

Criteria Provided
Multiple Submitters
No Conflicts

CA116701

rs_28937900

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

NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)

SNV
Germline

Chr19:46756936

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116704

rs_104894682

6 SubmittersRCV000004444 RCV000471321 RCV000501528 RCV000725596 RCV002222339

NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)

SNV
Germline

Chr19:46756396

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116706

rs_28937901

5 SubmittersRCV000004445 RCV000675047 RCV003144104 RCV003591621

NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)

SNV
Germline

Chr19:46756814

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116710

rs_28937903

11 SubmittersRCV000004447 RCV000201040 RCV000532707 RCV000597675 RCV003466808

NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)

SNV
Germline

Chr19:46755610

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116714

rs_28937905

5 SubmittersRCV000004449 RCV003591622 RCV004700187

NM_024301.5(FKRP):c.235G>A (p.Val79Met)

SNV
Germline

Chr19:46755685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA116716

rs_104894683

16 SubmittersRCV000004450 RCV000236146 RCV000513718 RCV001083979 RCV002444421

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

SNV
Germline

Chr19:46756349

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116722

rs_104894691

14 SubmittersRCV000004453 RCV000732974 RCV000814162 RCV001813735 RCV002371759 RCV003466810 RCV003155013 RCV005003334

NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)

SNV
Germline

Chr19:46756369

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116724

rs_104894692

8 SubmittersRCV000004454 RCV000004455 RCV000494504 RCV000805125 RCV000844942 RCV003488324

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_001079802.2(FKTN):c.1023G>A (p.Pro341=)

SNV
Germline

Chr9:105618071

Conflicting classifications of pathogenicity

Cardiomyopathy
Walker-Warburg congenital muscular dystrophy
not specified
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA325737

rs_146967918

10 SubmittersRCV000029799 RCV000456531 RCV000387391 RCV000617387 RCV001165727 RCV001165728 RCV001536542

NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)

SNV
Germline

Chr9:105635175

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Condition: not provided
Cardiovascular phenotype
Ventricular tachycardia
Cardiomyopathy
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA295366

rs_141918432

12 SubmittersRCV000149976 RCV000314345 RCV000390697 RCV000473598 RCV000620492 RCV000853035 RCV001081187

NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)

SNV
Germline

Chr9:105635214

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X

Criteria Provided
Conflicting Classifications

CA285415

rs_41313301

20 SubmittersRCV000029801 RCV000079428 RCV000231310 RCV000620456 RCV000991977 RCV001167309 RCV001167904

NM_001079802.2(FKTN):c.166-4A>G

SNV
Germline

Chr9:105601141

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Condition: not provided
Walker-Warburg congenital muscular dystrophy
not specified
Myopathy caused by variation in FKTN
FKTN-related disorder
Cardiovascular phenotype
Clear cell carcinoma of kidney
Colon adenocarcinoma
Lymphoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA295355

rs_193922689

15 SubmittersRCV000311406 RCV000405586 RCV000710133 RCV001086528 RCV001844018 RCV002470721 RCV004541024 RCV004018687 RCV005888726 RCV005888725 RCV005888727 RCV005888724

NM_001079802.2(FKTN):c.166-6A>G

SNV
Germline

Chr9:105601139

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA285420

rs_41277795

16 SubmittersRCV000029803 RCV000079430 RCV000232980 RCV000711625 RCV001165653 RCV001165654 RCV004017268

NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)

SNV
Germline

Chr9:105601145

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Condition: not provided
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Conflicting Classifications

CA285421

rs_41277797

18 SubmittersRCV000079431 RCV000368379 RCV000397538 RCV000466034 RCV000619307 RCV001572926 RCV003993795

NM_001079802.2(FKTN):c.167G>A (p.Arg56His)

SNV
Germline

Chr9:105601146

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA285426

rs_146951171

16 SubmittersRCV000079432 RCV000245908 RCV000241990 RCV000853033 RCV001080549 RCV001167247 RCV001167248 RCV004528283

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

Criteria Provided
Conflicting Classifications

CA221461

rs_149033995

9 SubmittersRCV000079435 RCV000634064 RCV002504991 RCV004019537 RCV006456682

NM_001079802.2(FKTN):c.910+14G>A

SNV
Germline

Chr9:105615421

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA285436

rs_76180538

11 SubmittersRCV000079440 RCV001165723 RCV001165724 RCV001795087 RCV002055116 RCV004017391

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222989

rs_200056620

12 SubmittersRCV000081477 RCV000578428 RCV000686940 RCV002288580 RCV003460755 RCV002498428 RCV004689449

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

SNV
Germline

Chr9:131506123

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222993

rs_398124244

8 SubmittersRCV000177268 RCV001376971 RCV002477237 RCV003474682 RCV004529856 RCV005431467

NM_001077365.2(POMT1):c.1365+15C>T

SNV
Germline

Chr9:131518552

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222995

rs_58896330

5 SubmittersRCV000250460 RCV000406427 RCV000723552 RCV002055205

NM_001077365.2(POMT1):c.1416C>T (p.Val472=)

SNV
Germline

Chr9:131518887

Conflicting classifications of pathogenicity

not specified
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
Condition: not provided
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA148550

rs_139687326

7 SubmittersRCV000081483 RCV000302685 RCV000537255 RCV001697139 RCV004528292

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

Criteria Provided
Conflicting Classifications

CA206170

rs_117985576

17 SubmittersRCV000192982 RCV000443667 RCV000515174 RCV001085429 RCV001166758 RCV001252355 RCV001332898

NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)

SNV
Germline

Chr9:131523043

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222997

rs_76092524

6 SubmittersRCV000253981 RCV000285946 RCV000712823 RCV001087221

NM_001077365.2(POMT1):c.310C>T (p.Leu104=)

SNV
Germline

Chr9:131507397

Conflicting classifications of pathogenicity

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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA222999

rs_146982282

3 SubmittersRCV000081490 RCV001517108 RCV004734639

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

SNV
Germline

Chr9:131510287

Pathogenic

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

Criteria Provided
Conflicting Classifications

CA223005

rs_139660235

7 SubmittersRCV000081495 RCV000764803 RCV001328597 RCV001341723 RCV004542790

NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)

SNV
Germline

Chr19:46755791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA149248

rs_143793528

16 SubmittersRCV000082175 RCV000227473 RCV000711662 RCV000577971 RCV001563823 RCV001563824 RCV002453409

NM_024301.5(FKRP):c.606G>A (p.Leu202=)

SNV
Germline

Chr19:46756056

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223743

rs_140084192

11 SubmittersRCV000082180 RCV000723553 RCV001088477 RCV001831885 RCV002354284 RCV004542795

NM_024301.5(FKRP):c.696G>T (p.Ala232=)

SNV
Germline

Chr19:46756146

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223745

rs_398124394

4 SubmittersRCV000082181 RCV000665517 RCV001494780 RCV005562305

NM_024301.5(FKRP):c.941C>T (p.Thr314Met)

SNV
Germline

Chr19:46756391

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA202828

rs_398124395

8 SubmittersRCV000082183 RCV000178344 RCV001050280 RCV003466994 RCV003987356

NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln)

SNV
Germline

Chr19:46756477

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA231092

rs_587780334

2 SubmittersRCV000117036 RCV001520188

NM_024301.5(FKRP):c.822C>G (p.Ile274Met)

SNV
Germline

Chr19:46756272

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA152821

rs_77138370

14 SubmittersRCV000117039 RCV000711666 RCV001086481 RCV001836732 RCV002426662

NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)

SNV
Germline

Chr19:46756627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA205982

rs_140679502

14 SubmittersRCV000192864 RCV000456138 RCV001093246 RCV001275320 RCV002336274 RCV004530080

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
Dilated cardiomyopathy 1X
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
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
not specified

Criteria Provided
Conflicting Classifications

CA295350

rs_145387221

11 SubmittersRCV000735003 RCV001243305 RCV002426707 RCV002483297 RCV005888293

NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser)

SNV
Germline

Chr9:105635059

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA295377

rs_727502849

5 SubmittersRCV000149979 RCV001831931 RCV002492549 RCV005411356

NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)

SNV
Germline

Chr19:46755919

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA295341

rs_727502842

3 SubmittersRCV003324234 RCV003466061 RCV003592021

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA233995

rs_537001725

9 SubmittersRCV000153239 RCV000984176 RCV001068213 RCV002492573 RCV003474809

NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)

SNV
Germline

Chr19:46756190

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234005

rs_528000488

12 SubmittersRCV000711665 RCV001079526 RCV001275315 RCV002381484 RCV003225033 RCV004544393 RCV006268632

NM_001077365.2(POMT1):c.1488C>T (p.Ser496=)

SNV
Germline

Chr9:131519390

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233764

rs_727503872

3 SubmittersRCV000153047 RCV000362995 RCV001850088

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

SNV
Germline

Chr9:131521445

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
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

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
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
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
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA278501

rs_149682171

7 SubmittersRCV000175455 RCV000648152 RCV004567380 RCV005049457 RCV005406892

NM_001077365.2(POMT1):c.42C>T (p.Asp14=)

SNV
Germline

Chr9:131504260

Conflicting classifications of pathogenicity

not specified
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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA241620

rs_150937126

5 SubmittersRCV000215378 RCV000724701 RCV001088411 RCV004528935

NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)

SNV
Germline

Chr9:131523025

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

Criteria Provided
Conflicting Classifications

CA241948

rs_138902646

5 SubmittersRCV000724246 RCV001085583 RCV001169205

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

SNV
Germline

Chr9:131523025

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

Criteria Provided
Conflicting Classifications

CA211189

rs_138902646

6 SubmittersRCV000176088 RCV000535678 RCV003462281 RCV005042377

NM_001077365.2(POMT1):c.129C>T (p.Asp43=)

SNV
Germline

Chr9:131506120

Conflicting classifications of pathogenicity

not specified
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

Criteria Provided
Conflicting Classifications

CA209472

rs_200465419

5 SubmittersRCV000194959 RCV000724773 RCV001086998

NM_024301.5(FKRP):c.1115T>G (p.Val372Gly)

SNV
Germline

Chr19:46756565

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245424

rs_771793862

3 SubmittersRCV000178353 RCV001852212 RCV006342148

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

SNV
Germline

Chr19:46756036

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245426

rs_759875552

6 SubmittersRCV000178354 RCV000548844 RCV000674993 RCV002492782 RCV004619208 RCV005891951

NM_024301.5(FKRP):c.729G>A (p.Ala243=)

SNV
Germline

Chr19:46756179

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA245428

rs_794727651

2 SubmittersRCV000178355 RCV001462245

NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)

SNV
Germline

Chr19:46756396

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 A5
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA245434

rs_28937901

4 SubmittersRCV000178358 RCV000670956 RCV003468865 RCV002517730

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

SNV
Germline

Chr19:46756397

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA245436

rs_752582904

4 SubmittersRCV000263428 RCV001065681 RCV002500502 RCV003462286

NM_024301.5(FKRP):c.954C>T (p.Cys318=)

SNV
Germline

Chr19:46756404

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245440

rs_755968761

7 SubmittersRCV000178361 RCV001085557 RCV001818438 RCV002372094

NM_001079802.2(FKTN):c.370-7G>A

SNV
Germline

Chr9:105604208

Conflicting classifications of pathogenicity

not specified
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA208630

rs_797045577

2 SubmittersRCV000194451 RCV002054264

NM_001077365.2(POMT1):c.986+9A>G

SNV
Germline

Chr9:131511476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206070

rs_202095070

10 SubmittersRCV000192918 RCV000349139 RCV000532464 RCV001085720

NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)

SNV
Germline

Chr9:131523106

Conflicting classifications of pathogenicity

not specified
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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA208025

rs_147143094

9 SubmittersRCV000194092 RCV000712824 RCV001084644 RCV001169207 RCV004541250

NM_024301.5(FKRP):c.483C>T (p.Ala161=)

SNV
Germline

Chr19:46755933

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206471

rs_797045576

4 SubmittersRCV000193165 RCV000674471 RCV001496128 RCV002327026

NM_024301.5(FKRP):c.699G>A (p.Val233=)

SNV
Germline

Chr19:46756149

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA208137

rs_764527541

4 SubmittersRCV000194156 RCV000950919 RCV001582685 RCV002372163

NM_024301.5(FKRP):c.1140G>A (p.Gly380=)

SNV
Germline

Chr19:46756590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA209044

rs_552260353

4 SubmittersRCV000194696 RCV000725091 RCV001087598 RCV002453706

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

Criteria Provided
Single Submitter

CA278543

rs_772370177

2 SubmittersRCV000192686 RCV002517157

NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)

SNV
Germline

Chr9:131518475

Conflicting classifications of pathogenicity

not specified
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

Criteria Provided
Conflicting Classifications

CA249339

rs_377304621

6 SubmittersRCV000203138 RCV000724979 RCV001079894

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5170446

rs_746763506

10 SubmittersRCV000234557 RCV000255310 RCV000490403 RCV000590733 RCV001594387 RCV002503833 RCV005404398

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 A, 4
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
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
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
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy
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 RCV000726141 RCV000672226 RCV000765453 RCV001731540 RCV002374378 RCV003224238 RCV003463680 RCV005252831

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
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
Inborn genetic diseases
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
Conflicting Classifications

CA5293806

rs_144338642

7 SubmittersRCV000246533 RCV000332912 RCV000725940 RCV000687622 RCV002518638 RCV005396853

NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)

SNV
Germline

Chr9:131522207

Conflicting classifications of pathogenicity

not specified
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
Conflicting Classifications

CA5293886

rs_140553130

6 SubmittersRCV000248748 RCV000725195 RCV001089075

NM_024301.5(FKRP):c.567C>T (p.Pro189=)

SNV
Germline

Chr19:46756017

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532171

rs_201454433

10 SubmittersRCV000254084 RCV000725158 RCV001085023 RCV001828147 RCV002347967

NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)

SNV
Germline

Chr9:105575054

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170287

rs_368981218

7 SubmittersRCV000253874 RCV000472415 RCV000519772

NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg)

SNV
Germline

Chr9:105615392

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Walker-Warburg congenital muscular dystrophy
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

Criteria Provided
Conflicting Classifications

CA5170513

rs_367662190

4 SubmittersRCV000252346 RCV001217618 RCV005044511

NM_001079802.2(FKTN):c.681G>A (p.Leu227=)

SNV
Germline

Chr9:105607852

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA5170469

rs_142604625

8 SubmittersRCV000247400 RCV000287677 RCV000323973 RCV000347593 RCV000725721 RCV001083707 RCV004535228

NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile)

SNV
Germline

Chr9:105615366

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy
Walker-Warburg congenital muscular dystrophy
not specified
Cardiovascular phenotype
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA5170509

rs_755092516

8 SubmittersRCV000255453 RCV000853034 RCV001084591 RCV001844104 RCV002374434 RCV004535235

NM_001077365.2(POMT1):c.568C>T (p.Leu190=)

SNV
Germline

Chr9:131509771

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293324

rs_752931210

4 SubmittersRCV000402228 RCV000552385 RCV000724802 RCV004542974

NM_001077365.2(POMT1):c.1149C>T (p.His383=)

SNV
Germline

Chr9:131513305

Conflicting classifications of pathogenicity

not specified
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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293550

rs_202121299

9 SubmittersRCV000394979 RCV000724838 RCV001085734 RCV004542979

NM_001079802.2(FKTN):c.706A>G (p.Met236Val)

SNV
Germline

Chr9:105607877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10603977

rs_886042241

6 SubmittersRCV000724974 RCV001239545 RCV005338122

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

SNV
Germline

Chr19:46755995

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9532164

rs_543163491

11 SubmittersRCV000336106 RCV000810074 RCV000984175 RCV003463742 RCV004992146 RCV004796149

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

SNV
Germline

Chr19:46756036

Conflicting classifications of pathogenicity

Condition: not provided
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

Criteria Provided
Conflicting Classifications

CA9532174

rs_759875552

6 SubmittersRCV000314155 RCV000673934 RCV002519121 RCV004021118 RCV003469227

NM_001079802.2(FKTN):c.180A>G (p.Lys60=)

SNV
Germline

Chr9:105601159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10604336

rs_886042513

3 SubmittersRCV000266617 RCV001422531 RCV004021122

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

SNV
Germline

Chr19:46756181

Conflicting classifications of pathogenicity

not specified
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
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
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA9532194

rs_764641619

14 SubmittersRCV000331999 RCV000457561 RCV000664793 RCV000725201 RCV002379117 RCV005396872

NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)

SNV
Germline

Chr19:46755619

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532119

rs_773024545

7 SubmittersRCV000308811 RCV000634051 RCV001272535 RCV005238827

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

SNV
Germline

Chr9:105635106

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2M
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
Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA5170600

rs_146272618

6 SubmittersRCV000380549 RCV000766041 RCV001081484 RCV002365305 RCV004543026

NM_001079802.2(FKTN):c.402A>T (p.Gly134=)

SNV
Germline

Chr9:105604247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170402

rs_780921233

4 SubmittersRCV000326218 RCV001084846 RCV002356377

NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys)

SNV
Germline

Chr19:46756504

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532236

rs_751676482

5 SubmittersRCV000725327 RCV002401986 RCV003754872

NM_001077365.2(POMT1):c.330C>G (p.Leu110=)

SNV
Germline

Chr9:131507417

Conflicting classifications of pathogenicity

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
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293231

rs_138064523

5 SubmittersRCV000725366 RCV001080804 RCV001169105

NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)

SNV
Germline

Chr19:46755763

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9532140

rs_761821795

5 SubmittersRCV000272017 RCV001859606 RCV003463757

NM_001077365.2(POMT1):c.345G>A (p.Ser115=)

SNV
Germline

Chr9:131507432

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293240

rs_147212285

3 SubmittersRCV000365109 RCV000725576 RCV001370260

NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)

SNV
Germline

Chr9:131513282

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
not specified
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293544

rs_146869947

5 SubmittersRCV000338793 RCV000376051 RCV000530614 RCV004535339

NM_024301.5(FKRP):c.544T>C (p.Tyr182His)

SNV
Germline

Chr19:46755994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532163

rs_753390261

5 SubmittersRCV000324567 RCV000673996 RCV001859617 RCV002348000

NM_001079802.2(FKTN):c.63G>C (p.Leu21=)

SNV
Germline

Chr9:105575095

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170292

rs_766642997

4 SubmittersRCV000406677 RCV001087279 RCV002356384

NM_001077365.2(POMT1):c.1749C>G (p.Leu583=)

SNV
Germline

Chr9:131521396

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
not specified

Criteria Provided
Conflicting Classifications

CA10605125

rs_755379319

3 SubmittersRCV000378776 RCV002519182 RCV005418047

NM_001077365.2(POMT1):c.2003+9G>A

SNV
Germline

Chr9:131522233

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
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5293895

rs_368975092

3 SubmittersRCV000280643 RCV000725710 RCV001484682

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

SNV
Germline

Chr9:131504345

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10605191

rs_376753193

3 SubmittersRCV000388581 RCV000648153 RCV005044534

NM_024301.5(FKRP):c.969C>T (p.Arg323=)

SNV
Germline

Chr19:46756419

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532218

rs_532054402

8 SubmittersRCV000725724 RCV001081031 RCV002379132 RCV003330622

NM_024301.5(FKRP):c.531G>A (p.Glu177=)

SNV
Germline

Chr19:46755981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532159

rs_768007208

8 SubmittersRCV000725725 RCV001081894 RCV001828220 RCV002348001 RCV003330623

NM_001077365.2(POMT1):c.1014C>T (p.His338=)

SNV
Germline

Chr9:131512068

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

Criteria Provided
Conflicting Classifications

CA10605235

rs_886043203

2 SubmittersRCV000284032 RCV003765632

NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)

SNV
Germline

Chr9:131509789

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293329

rs_199498900

7 SubmittersRCV000540929 RCV000712827 RCV002519193 RCV004543069

NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly)

SNV
Germline

Chr9:105604288

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170413

rs_773305645

6 SubmittersRCV000338247 RCV001246019 RCV002328780

NM_001077365.2(POMT1):c.846C>T (p.Ala282=)

SNV
Germline

Chr9:131510406

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

Criteria Provided
Conflicting Classifications

CA10605359

rs_886043307

2 SubmittersRCV000298509 RCV001081730

NM_001079802.2(FKTN):c.21C>T (p.Asn7=)

SNV
Germline

Chr9:105575053

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170285

rs_564632018

4 SubmittersRCV000725915 RCV001085468 RCV004021211

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

SNV
Germline

Chr9:131510407

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
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
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
Conflicting Classifications

CA5293451

rs_747506380

8 SubmittersRCV000712829 RCV004021212 RCV000764805 RCV001041917 RCV003454804

NM_001077365.2(POMT1):c.2067C>T (p.His689=)

SNV
Germline

Chr9:131522995

Conflicting classifications of pathogenicity

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
Conflicting Classifications

CA5293926

rs_141895982

2 SubmittersRCV000341250 RCV000648171

NM_001077365.2(POMT1):c.1200C>T (p.Ser400=)

SNV
Germline

Chr9:131515450

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10606029

rs_886043851

2 SubmittersRCV000360608 RCV003765654

NM_001077365.2(POMT1):c.2058C>T (p.Ser686=)

SNV
Germline

Chr9:131522986

Conflicting classifications of pathogenicity

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
Conflicting Classifications

CA10606149

rs_886043948

2 SubmittersRCV000352633 RCV001087544

NM_001077365.2(POMT1):c.1933C>T (p.Leu645=)

SNV
Germline

Chr9:131522154

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10606256

rs_750972624

2 SubmittersRCV000317771 RCV005222874

NM_024301.5(FKRP):c.54T>A (p.Leu18=)

SNV
Germline

Chr19:46755504

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532101

rs_565563742

6 SubmittersRCV000319756 RCV001085217 RCV001828260 RCV002348018 RCV004535418

NM_001079802.2(FKTN):c.293C>T (p.Thr98Ile)

SNV
Germline

Chr9:105601272

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170366

rs_376452959

5 SubmittersRCV000369724 RCV000817245 RCV005562330

NM_001079802.2(FKTN):c.911-8C>A

SNV
Germline

Chr9:105617951

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
FKTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5170532

rs_749557617

4 SubmittersRCV001079238 RCV004543123 RCV000726303

NM_024301.5(FKRP):c.885C>T (p.Arg295=)

SNV
Germline

Chr19:46756335

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532206

rs_769005880

8 SubmittersRCV000394110 RCV001275317 RCV001083609 RCV001729511 RCV002446530

NM_024301.5(FKRP):c.1383G>T (p.Ala461=)

SNV
Germline

Chr19:46756833

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA9532307

rs_759585825

2 SubmittersRCV000346836 RCV001086774

NM_001077365.2(POMT1):c.1486+9G>A

SNV
Germline

Chr9:131518966

Conflicting classifications of pathogenicity

not specified
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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293714

rs_547775333

4 SubmittersRCV000319136 RCV000726328 RCV001395375 RCV004734945

NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)

SNV
Germline

Chr19:46756420

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy type B5

Criteria Provided
Multiple Submitters
No Conflicts

CA10606452

rs_886044183

4 SubmittersRCV000282481 RCV000461986 RCV000726333 RCV005230229

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

SNV
Germline

Chr19:46755906

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532153

rs_199714523

16 SubmittersRCV000464325 RCV000408156 RCV000710136 RCV000765452 RCV001275311 RCV002338856 RCV003224253

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

SNV
Germline

Chr19:46756354

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532208

rs_762283381

7 SubmittersRCV000356554 RCV000469653 RCV002374484 RCV005016682 RCV000765454 RCV001273518

NM_001077365.2(POMT1):c.246C>T (p.Phe82=)

SNV
Germline

Chr9:131506419

Conflicting classifications of pathogenicity

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
Conflicting Classifications

CA5293202

rs_148887050

2 SubmittersRCV000332614 RCV001088902

NM_024301.5(FKRP):c.632C>T (p.Ser211Leu)

SNV
Germline

Chr19:46756082

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532181

rs_750041378

5 SubmittersRCV000383820 RCV000460118 RCV001833398 RCV005562331

NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala)

SNV
Germline

Chr19:46756891

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532323

rs_745774108

5 SubmittersRCV000270749 RCV001082322 RCV002392813

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

SNV
Germline

Chr9:105607874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170471

rs_373418195

8 SubmittersRCV000700000 RCV000726450 RCV002229751 RCV002480051

NM_001079802.2(FKTN):c.411C>T (p.Cys137=)

SNV
Germline

Chr9:105604256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170405

rs_537001725

3 SubmittersRCV000407363 RCV001415673 RCV005338131

NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)

SNV
Germline

Chr9:131515444

Conflicting classifications of pathogenicity

not specified
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

Criteria Provided
Conflicting Classifications

CA5293578

rs_371653610

3 SubmittersRCV000261691 RCV000726459 RCV001415274

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

Criteria Provided
Conflicting Classifications

CA5170500

rs_558187116

11 SubmittersRCV000263255 RCV000526522 RCV001169711 RCV001169710 RCV002429237 RCV002487283 RCV004734947

NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser)

SNV
Germline

Chr9:105635148

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1X
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5170605

rs_752358445

5 SubmittersRCV000267506 RCV000459192 RCV002222481 RCV003475923 RCV004619249

NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)

SNV
Germline

Chr9:131520142

Conflicting classifications of pathogenicity

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
Conflicting Classifications

CA5293766

rs_757830349

3 SubmittersRCV000367352 RCV001392641

NM_001079802.2(FKTN):c.1158A>G (p.Thr386=)

SNV
Germline

Chr9:105620047

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10606871

rs_886044528

2 SubmittersRCV000387255 RCV001087986

NM_001077365.2(POMT1):c.1486+10C>T

SNV
Germline

Chr9:131518967

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
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
Conflicting Classifications

CA5293715

rs_373393733

3 SubmittersRCV000272104 RCV000362366 RCV001510760

NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)

SNV
Germline

Chr19:46756604

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
FKRP-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9532258

rs_104894680

9 SubmittersRCV000285599 RCV001079454 RCV002348030 RCV004537622 RCV005238861

NM_001077365.2(POMT1):c.1101C>T (p.Ser367=)

SNV
Germline

Chr9:131513257

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293537

rs_771523115

2 SubmittersRCV000393902 RCV003766098

NM_001079802.2(FKTN):c.1188G>A (p.Lys396=)

SNV
Germline

Chr9:105635066

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10628721

rs_886063320

3 SubmittersRCV000280464 RCV000335334 RCV002058763 RCV002338957

NM_001077365.2(POMT1):c.1461C>T (p.Asn487=)

SNV
Germline

Chr9:131518932

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293702

rs_373482514

3 SubmittersRCV000359663 RCV000878229 RCV004999355

NM_001079802.2(FKTN):c.397A>G (p.Met133Val)

SNV
Germline

Chr9:105604242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170401

rs_569778463

3 SubmittersRCV000634069 RCV005044591

NM_001077365.2(POMT1):c.36G>A (p.Thr12=)

SNV
Germline

Chr9:131504254

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
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

Criteria Provided
Conflicting Classifications

CA5293133

rs_201262353

3 SubmittersRCV000324548 RCV000591419 RCV001504471

NM_001077365.2(POMT1):c.1323A>C (p.Ser441=)

SNV
Germline

Chr9:131518495

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293655

rs_753403833

2 SubmittersRCV000359812 RCV000902767

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

Criteria Provided
Conflicting Classifications

CA5293718

rs_142995404

4 SubmittersRCV000329347 RCV000429135 RCV001334644 RCV002058780

NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)

SNV
Germline

Chr9:105596601

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2M

Criteria Provided
Multiple Submitters
No Conflicts

CA16041290

rs_773884973

3 SubmittersRCV000410928 RCV003754875 RCV005238958

NM_001079802.2(FKTN):c.766C>A (p.Arg256=)

SNV
Germline

Chr9:105607937

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Cardiovascular phenotype
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA5170478

rs_377417974

7 SubmittersRCV000430403 RCV000727454 RCV001078960 RCV001169708 RCV001169709 RCV002393039 RCV004539897

NM_001077365.2(POMT1):c.281-5T>C

SNV
Germline

Chr9:131507363

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293225

rs_367743923

2 SubmittersRCV000442385 RCV001861627

NM_001077365.2(POMT1):c.1443C>T (p.His481=)

SNV
Germline

Chr9:131518914

Conflicting classifications of pathogenicity

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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293695

rs_139415150

4 SubmittersRCV000731140 RCV001487542 RCV004539791

NM_001077365.2(POMT1):c.855+6T>C

SNV
Germline

Chr9:131510421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293454

rs_200692465

4 SubmittersRCV000419700 RCV000726765 RCV004539854 RCV001051349

NM_024301.5(FKRP):c.1405C>T (p.Leu469=)

SNV
Germline

Chr19:46756855

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532315

rs_143129484

8 SubmittersRCV000727355 RCV001273522 RCV001083062 RCV002393016 RCV004533075 RCV005239000

NM_024301.5(FKRP):c.364G>A (p.Ala122Thr)

SNV
Germline

Chr19:46755814

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16616057

rs_1060502111

2 SubmittersRCV000462869 RCV004022697

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

SNV
Germline

Chr19:46755778

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy 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
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
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 RCV000765451 RCV000991999 RCV001272539 RCV002446816 RCV003463910 RCV005027515 RCV005239030

NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter)

SNV
Germline

Chr19:46756533

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA16616286

rs_1060502109

1 SubmittersRCV000461046

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

SNV
Germline

Chr9:131521439

Pathogenic

Condition: not provided
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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293823

rs_761848742

3 SubmittersRCV000487062 RCV003464000 RCV002525809

NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)

SNV
Germline

Chr9:105635215

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

Criteria Provided
Conflicting Classifications

CA5170613

rs_374912618

5 SubmittersRCV000498728 RCV001082102 RCV001167905 RCV001167906 RCV002383954

NM_001077365.2(POMT1):c.921G>T (p.Leu307=)

SNV
Germline

Chr9:131511402

Conflicting classifications of pathogenicity

not specified
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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293476

rs_371243573

4 SubmittersRCV000499770 RCV000729146 RCV002056870 RCV004735576

NM_001077365.2(POMT1):c.1487-5G>T

SNV
Germline

Chr9:131519384

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5293728

rs_747783069

3 SubmittersRCV000504315 RCV002056869 RCV006436797

NM_001079802.2(FKTN):c.588C>T (p.Asp196=)

SNV
Germline

Chr9:105604433

Conflicting classifications of pathogenicity

not specified
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA466659432

rs_1222153269

3 SubmittersRCV000516832 RCV001454192 RCV002358398

NM_001079802.2(FKTN):c.781-9T>C

SNV
Germline

Chr9:105615269

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA5170496

rs_370564232

3 SubmittersRCV000519082 RCV001088310 RCV001797743

NM_001077365.2(POMT1):c.428-2A>G

SNV
Germline

Chr9:131508909

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375306861

rs_1554773448

2 SubmittersRCV000520999 RCV003766974

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

SNV
Germline

Chr9:131518533

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375311567

rs_1554780670

2 SubmittersRCV000548536 RCV003476298

NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn)

SNV
Germline

Chr9:131518919

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293697

rs_750937093

2 SubmittersRCV003767049 RCV005463016

NM_001079802.2(FKTN):c.822G>T (p.Arg274=)

SNV
Germline

Chr9:105615319

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA197447945

rs_997235832

3 SubmittersRCV000534377 RCV002431565

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

SNV
Germline

Chr9:131518862

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293687

rs_746849558

2 SubmittersRCV000558807 RCV003459248

NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser)

SNV
Germline

Chr9:105601272

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Condition: not provided
FKTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5170365

rs_376452959

7 SubmittersRCV000557459 RCV002438328 RCV003144321 RCV004537911 RCV006458502

NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser)

SNV
Germline

Chr9:131508971

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293287

rs_182295674

5 SubmittersRCV000526210 RCV000732557 RCV006362462

NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr)

SNV
Germline

Chr19:46756550

Pathogenic

Walker-Warburg congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA406496647

rs_1555739020

2 SubmittersRCV000527187 RCV001093245

NM_001079802.2(FKTN):c.166-12T>A

SNV
Germline

Chr9:105601133

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA658683547

rs_1419099088

2 SubmittersRCV000579368 RCV002060548

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

Criteria Provided
Multiple Submitters
No Conflicts

CA658683548

rs_1554754182

4 SubmittersRCV000587372 RCV000763612 RCV001217950 RCV003471945

NM_001077365.2(POMT1):c.1671T>C (p.Ile557=)

SNV
Germline

Chr9:131520166

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

Criteria Provided
Conflicting Classifications

CA5293770

rs_200969468

2 SubmittersRCV000595211 RCV001086068

NM_001079802.2(FKTN):c.333T>C (p.Thr111=)

SNV
Germline

Chr9:105601312

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170372

rs_141729611

5 SubmittersRCV000593541 RCV000780265 RCV001078678 RCV002325123

NM_001077365.2(POMT1):c.1749C>T (p.Leu583=)

SNV
Germline

Chr9:131521396

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

Criteria Provided
Conflicting Classifications

CA5293811

rs_755379319

2 SubmittersRCV000596333 RCV002062003

NM_024301.5(FKRP):c.1137G>T (p.Arg379=)

SNV
Germline

Chr19:46756587

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA9532252

rs_761782258

2 SubmittersRCV000593367 RCV002062012

NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)

SNV
Germline

Chr19:46756273

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406496081

rs_1247934219

6 SubmittersRCV000596371 RCV000674695 RCV000810990 RCV003459466

NM_001077365.2(POMT1):c.1698+10C>A

SNV
Germline

Chr9:131520203

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
Walker-Warburg congenital muscular dystrophy
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293784

rs_184131819

5 SubmittersRCV000595892 RCV000712816 RCV001087695 RCV004735643

NM_024301.5(FKRP):c.703C>T (p.Leu235=)

SNV
Germline

Chr19:46756153

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA507975862

rs_1428469954

4 SubmittersRCV000593445 RCV001405000 RCV002377231 RCV003994038

NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)

SNV
Germline

Chr9:131521393

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293810

rs_376373313

3 SubmittersRCV000594345 RCV001459502 RCV004543349

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
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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5170614

rs_374912618

8 SubmittersRCV000594573 RCV000634068 RCV000766042 RCV002384299

NM_001077365.2(POMT1):c.2031C>T (p.Ser677=)

SNV
Germline

Chr9:131522959

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

Criteria Provided
Conflicting Classifications

CA5293922

rs_778418119

3 SubmittersRCV000598512 RCV001088943

NM_001079802.2(FKTN):c.198C>G (p.Ser66=)

SNV
Germline

Chr9:105601177

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA466509377

rs_367868644

4 SubmittersRCV000595479 RCV000727064 RCV001078830

NM_001079802.2(FKTN):c.342A>G (p.Ala114=)

SNV
Germline

Chr9:105601321

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170373

rs_368598407

5 SubmittersRCV000593496 RCV001088890 RCV002265815 RCV002456304

NM_024301.5(FKRP):c.336C>T (p.Ala112=)

SNV
Germline

Chr19:46755786

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA309099249

rs_1054339656

4 SubmittersRCV000711661 RCV001464387 RCV002456306

NM_001077365.2(POMT1):c.1740G>A (p.Ser580=)

SNV
Germline

Chr9:131521387

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

Criteria Provided
Conflicting Classifications

CA5293809

rs_148758906

2 SubmittersRCV000594182 RCV003767395

NM_001079802.2(FKTN):c.357A>G (p.Leu119=)

SNV
Germline

Chr9:105601336

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA5170376

rs_760933616

7 SubmittersRCV000595119 RCV000727371 RCV001083865 RCV002460093 RCV004530711

NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr)

SNV
Germline

Chr19:46756813

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA406497215

rs_747785577

2 SubmittersRCV000591271 RCV002531091

NM_001079802.2(FKTN):c.166-9C>T

SNV
Germline

Chr9:105601136

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA590046763

rs_1361772036

3 SubmittersRCV000594841 RCV002532626 RCV004543380

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

SNV
Germline

Chr9:131506188

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
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 SubmittersRCV000591710 RCV000819538 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
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

CA375308747

rs_765230689

4 SubmittersRCV000595731 RCV000763189 RCV003767405 RCV003471965

NM_001079802.2(FKTN):c.1172+13T>C

SNV
Germline

Chr9:105620074

Conflicting classifications of pathogenicity

not specified
Walker-Warburg congenital muscular dystrophy
FKTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5170577

rs_768792475

6 SubmittersRCV000611590 RCV002064215 RCV004544768 RCV004705703

NM_001077365.2(POMT1):c.699+72T>C

SNV
Germline

Chr9:131510068

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

Criteria Provided
Conflicting Classifications

CA200784552

rs_200780140

2 SubmittersRCV000614427 RCV001860280

NM_001077365.2(POMT1):c.1825+6T>C

SNV
Germline

Chr9:131521478

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

Criteria Provided
Conflicting Classifications

CA590755029

rs_1366898427

2 SubmittersRCV000601191 RCV002532757

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

SNV
Germline

Chr9:131515460

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375309889

rs_1554778005

3 SubmittersRCV000627277 RCV003459477 RCV006556467

NM_001077365.2(POMT1):c.30G>A (p.Val10=)

SNV
Germline

Chr9:131504248

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

Criteria Provided
Conflicting Classifications

CA5293130

rs_201533471

2 SubmittersRCV001504124 RCV000732620

NM_001079802.2(FKTN):c.30G>A (p.Leu10=)

SNV
Germline

Chr9:105575062

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170289

rs_202047149

3 SubmittersRCV000732519 RCV001082721 RCV005338276

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

SNV
Germline

Chr9:131509809

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
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

Criteria Provided
Multiple Submitters
No Conflicts

CA375307262

rs_766648827

3 SubmittersRCV000648156 RCV003459544 RCV005046833

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

SNV
Germline

Chr9:131518502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293658

rs_752384050

5 SubmittersRCV000648158 RCV000733057 RCV004594087 RCV004544878

NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly)

SNV
Germline

Chr9:105617967

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374377395

rs_267606814

2 SubmittersRCV000634078

NM_001077365.2(POMT1):c.426C>T (p.Ile142=)

SNV
Germline

Chr9:131507513

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293259

rs_771390000

2 SubmittersRCV000648167 RCV000712825

NM_001077365.2(POMT1):c.927C>T (p.Asn309=)

SNV
Germline

Chr9:131511408

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375308551

rs_753694905

2 SubmittersRCV001166679 RCV002533345

NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)

SNV
Germline

Chr19:46756883

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406497356

rs_1301397800

8 SubmittersRCV000634073 RCV000671168 RCV000731349 RCV003459515 RCV003488744 RCV005405215

NM_024301.5(FKRP):c.968G>A (p.Arg323His)

SNV
Germline

Chr19:46756418

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 A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA406496378

rs_1349031936

4 SubmittersRCV000634072 RCV000662004 RCV000662005 RCV001171504

NM_001079802.2(FKTN):c.1172+1G>A

SNV
Germline

Chr9:105620062

Pathogenic/Likely pathogenic

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

CA374377990

rs_1554761462

3 SubmittersRCV000674388 RCV002531350 RCV003465537

NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)

SNV
Germline

Chr19:46755976

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 A5

Criteria Provided
Multiple Submitters
No Conflicts

CA406495500

rs_1555738502

3 SubmittersRCV000672053 RCV001868261 RCV003459634

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

SNV
Germline

Chr19:46756378

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9532212

rs_765885747

8 SubmittersRCV000665088 RCV000760366 RCV001055645 RCV002369793 RCV002499146 RCV003226352 RCV003465438

NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)

SNV
Germline

Chr19:46755664

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406494888

rs_1555738201

3 SubmittersRCV000671226 RCV003754883 RCV005639181

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

SNV
Germline

Chr19:46756228

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406495998

rs_1555738753

4 SubmittersRCV000669672 RCV002499167 RCV001855524 RCV003459613

NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)

SNV
Germline

Chr19:46756477

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406496501

rs_587780334

3 SubmittersRCV000668106 RCV001554930 RCV002530737

NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)

SNV
Germline

Chr19:46756834

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9532308

rs_768606230

8 SubmittersRCV000671396 RCV001573804 RCV003323674 RCV002531280 RCV005562429

NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys)

SNV
Germline

Chr19:46756868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532317

rs_752243337

4 SubmittersRCV000664689 RCV002530634 RCV005411530 RCV006552662

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

SNV
Germline

Chr19:46755716

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9532135

rs_770711331

7 SubmittersRCV000665956 RCV000700227 RCV001784236 RCV002499150 RCV004568497 RCV004993923

NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)

SNV
Germline

Chr19:46756462

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406496467

rs_1173430388

5 SubmittersRCV000669472 RCV001868232 RCV003488793 RCV005860123 RCV005870753

NM_024301.5(FKRP):c.1016G>A (p.Arg339His)

SNV
Germline

Chr19:46756466

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA406496474

rs_1450841129

5 SubmittersRCV000674783 RCV000735132 RCV002343423 RCV002531360 RCV006268941

NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser)

SNV
Germline

Chr9:105575046

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5170284

rs_751473818

3 SubmittersRCV000687790 RCV004026276

NM_001077365.2(POMT1):c.1272+2T>C

SNV
Germline

Chr9:131515524

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
Myopathy caused by variation in POMT1

Criteria Provided
Multiple Submitters
No Conflicts

CA375310225

rs_1564365317

2 SubmittersRCV000703521 RCV006257315

NM_001077365.2(POMT1):c.987-2A>C

SNV
Germline

Chr9:131512039

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375308733

rs_1453773610

1 SubmittersRCV000704477

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_024301.5(FKRP):c.291C>T (p.Pro97=)

SNV
Germline

Chr19:46755741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA507975388

rs_1215872713

3 SubmittersRCV000711660 RCV001484192 RCV003380703

NM_001077365.2(POMT1):c.123-6T>C

SNV
Germline

Chr9:131506108

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

Criteria Provided
Conflicting Classifications

CA5293166

rs_201486083

2 SubmittersRCV000728533 RCV001407774

NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)

SNV
Germline

Chr9:131522989

Conflicting classifications of pathogenicity

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
POMT1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5293925

rs_200916353

4 SubmittersRCV000728764 RCV001506219 RCV004540038 RCV004997256

NM_001079802.2(FKTN):c.393G>A (p.Glu131=)

SNV
Germline

Chr9:105604238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA466659319

rs_1472560195

4 SubmittersRCV000728769 RCV002369989 RCV003754886

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

SNV
Germline

Chr9:131510063

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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293387

rs_776061161

5 SubmittersRCV000729095 RCV001379440 RCV002282347 RCV003465659 RCV005223149

NM_001079802.2(FKTN):c.1179G>C (p.Leu393=)

SNV
Germline

Chr9:105635057

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170590

rs_369117043

3 SubmittersRCV000729524 RCV001416966 RCV003303210

NM_001077365.2(POMT1):c.141T>C (p.Tyr47=)

SNV
Germline

Chr9:131506132

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293174

rs_752941420

2 SubmittersRCV000730249 RCV002060990

NM_001079802.2(FKTN):c.911-1G>A

SNV
Germline

Chr9:105617958

Pathogenic/Likely pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA197450119

rs_958678700

3 SubmittersRCV000731141 RCV001855755 RCV003465665

NM_001079802.2(FKTN):c.369+1G>C

SNV
Germline

Chr9:105601349

Pathogenic/Likely pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
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

Criteria Provided
Multiple Submitters
No Conflicts

CA5170377

rs_764125009

3 SubmittersRCV000732554 RCV001868977 RCV005046998

NM_024301.5(FKRP):c.1236C>T (p.His412=)

SNV
Germline

Chr19:46756686

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532279

rs_201076863

5 SubmittersRCV000732907 RCV001086434 RCV001830628 RCV002360859 RCV004535860

NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)

SNV
Germline

Chr19:46755714

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406494991

rs_1057520771

4 SubmittersRCV000733489 RCV005056493 RCV004569418 RCV006342519

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
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

CA5293502

rs_756973046

4 SubmittersRCV000734638 RCV003465669 RCV006556603

NM_001077365.2(POMT1):c.1194C>A (p.Pro398=)

SNV
Germline

Chr9:131515444

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293580

rs_371653610

2 SubmittersRCV000734808 RCV001087469

NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter)

SNV
Germline

Chr9:105601339

Pathogenic/Likely pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA374331819

rs_1564284467

2 SubmittersRCV000760654 RCV001855930

NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)

SNV
Germline

Chr9:105607927

Pathogenic/Likely pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA374332691

rs_1564301594

4 SubmittersRCV000760735 RCV001855931 RCV003166018 RCV003472283

NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)

SNV
Germline

Chr9:105635054

Likely pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA374378010

rs_1203741361

3 SubmittersRCV000760536 RCV002536580 RCV003465678

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

SNV
Germline

Chr9:131520194

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
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_001079802.2(FKTN):c.868A>T (p.Lys290Ter)

SNV
Germline

Chr9:105615365

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374377273

rs_1438288380

1 SubmittersRCV000814549

NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)

SNV
Germline

Chr9:105620042

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA374377944

rs_1588222602

2 SubmittersRCV000804630 RCV003467404

NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)

SNV
Germline

Chr9:131511459

Pathogenic

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

Criteria Provided
Single Submitter

CA375308694

rs_1588391612

1 SubmittersRCV000815478

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

SNV
Germline

Chr19:46756383

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA309099616

rs_911700598

3 SubmittersRCV000813120 RCV002478891 RCV002372288

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

SNV
Germline

Chr19:46756746

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406497073

rs_1599939853

2 SubmittersRCV000810942 RCV002507413

NM_001079802.2(FKTN):c.780+2T>C

SNV
Germline

Chr9:105607953

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374332747

rs_1588136441

1 SubmittersRCV000812826

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293206

rs_746823238

8 SubmittersRCV000853233 RCV001683668 RCV001869305

NM_001079802.2(FKTN):c.207T>C (p.Asn69=)

SNV
Germline

Chr9:105601186

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5170357

rs_752921570

9 SubmittersRCV000870044 RCV001087923 RCV001167249 RCV001167250 RCV001816991 RCV003380765

NM_001079802.2(FKTN):c.1185G>T (p.Pro395=)

SNV
Germline

Chr9:105635063

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5170592

rs_141886790

2 SubmittersRCV000942805 RCV002332939

NM_001077365.2(POMT1):c.427+8C>T

SNV
Germline

Chr9:131507522

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

Criteria Provided
Conflicting Classifications

CA200779428

rs_201727519

2 SubmittersRCV000999248 RCV003769373

NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr9:105607829

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA5170467

rs_754081311

2 SubmittersRCV001044980

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

SNV
Germline

Chr9:105607937

Conflicting classifications of pathogenicity

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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5170477

rs_377417974

7 SubmittersRCV001044487 RCV002479277 RCV003473630 RCV004994200 RCV005633833

NM_024301.5(FKRP):c.125C>G (p.Ala42Gly)

SNV
Germline

Chr19:46755575

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9532115

rs_768215450

2 SubmittersRCV001048305 RCV004031500

NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)

SNV
Germline

Chr19:46755773

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA309099247

rs_936866997

6 SubmittersRCV001063677 RCV001336095 RCV001275309 RCV002320323 RCV002462309

NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)

SNV
Germline

Chr19:46756586

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 A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA309099778

rs_140217866

3 SubmittersRCV001056582 RCV001832510 RCV005021388

NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)

SNV
Germline

Chr9:105607835

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Cardiovascular phenotype
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA374332493

rs_1293245717

3 SubmittersRCV001167832 RCV001167833 RCV002365819 RCV002559606

NM_001079802.2(FKTN):c.705A>G (p.Pro235=)

SNV
Germline

Chr9:105607876

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA466511877

rs_1829190548

2 SubmittersRCV001169707 RCV001169706 RCV001485169

NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile)

SNV
Germline

Chr9:131518529

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200794964

rs_1008021925

5 SubmittersRCV001166234 RCV001371364 RCV002254953 RCV005463275

NM_001077365.2(POMT1):c.1581G>A (p.Leu527=)

SNV
Germline

Chr9:131519483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA467423605

rs_1378023866

2 SubmittersRCV001166759 RCV003769808

NM_001077365.2(POMT1):c.606-15G>C

SNV
Germline

Chr9:131509888

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
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293351

rs_201897506

2 SubmittersRCV001166183 RCV002067809

NM_001077365.2(POMT1):c.1083-7C>G

SNV
Germline

Chr9:131513232

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
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA860568022

rs_1428085460

2 SubmittersRCV001168412 RCV003769821

NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)

SNV
Germline

Chr19:46756412

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Myopathy caused by variation in FKRP

Criteria Provided
Multiple Submitters
No Conflicts

CA9532217

rs_745882222

4 SubmittersRCV001196908 RCV002561048 RCV003469313 RCV005633930

NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)

SNV
Germline

Chr9:105635203

Conflicting classifications of pathogenicity

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 without intellectual disability), type B4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
not specified
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA374378341

rs_1429464723

6 SubmittersRCV005040033 RCV003473771 RCV001729816 RCV004587076 RCV001218466

NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter)

SNV
Germline

Chr19:46756533

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406496611

rs_1060502109

4 SubmittersRCV001222642 RCV003145418 RCV003469385 RCV005572500

NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)

SNV
Germline

Chr9:131518928

Pathogenic

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

Criteria Provided
Single Submitter

CA375312051

rs_1191391104

1 SubmittersRCV001205242

NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)

SNV
Germline

Chr19:46756195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532196

rs_757955092

5 SubmittersRCV001208376 RCV003145380 RCV001833831 RCV004033726

NM_001077365.2(POMT1):c.1699-1G>A

SNV
Germline

Chr9:131521345

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375313543

rs_1949874222

1 SubmittersRCV001217576

NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter)

SNV
Germline

Chr9:105601346

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA374331839

rs_1376019203

2 SubmittersRCV001231637 RCV003469417

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

SNV
Germline

Chr9:131506437

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

CA375305860

rs_1945827957

2 SubmittersRCV001228965 RCV004570568

NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys)

SNV
Germline

Chr9:131515476

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375310006

rs_1948104184

1 SubmittersRCV001235411

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 (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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309099387

rs_921883036

4 SubmittersRCV001226232 RCV001828806 RCV002484228 RCV004032565

NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter)

SNV
Germline

Chr9:105635054

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA374378009

rs_1203741361

5 SubmittersRCV001245464 RCV001780185 RCV002327598 RCV003469473

NM_024301.5(FKRP):c.478G>T (p.Val160Phe)

SNV
Germline

Chr19:46755928

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406495405

rs_1314476567

1 SubmittersRCV001247136

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

SNV
Germline

Chr9:131506222

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375305773

rs_1945782278

2 SubmittersRCV001225759 RCV003473785

NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)

SNV
Germline

Chr9:131506160

Pathogenic

Dysgenesis of the cerebellar vermis
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

CA375305638

rs_1945766589

2 SubmittersRCV001257391 RCV003770344

NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser)

SNV
Germline

Chr22:46436281

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Severe NDD

Criteria Provided
Conflicting Classifications

CA325144825

rs_931374138

2 SubmittersRCV001267716 RCV005624170

NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu)

SNV
Germline

Chr9:105635090

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5170596

rs_776724595

5 SubmittersRCV001289425 RCV001835377 RCV004035571

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

SNV
Germline

Chr19:46755655

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy 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

CA309099225

rs_990847012

5 SubmittersRCV001295759 RCV001830129 RCV002418887 RCV002493553

NM_024301.5(FKRP):c.946C>G (p.Pro316Ala)

SNV
Germline

Chr19:46756396

Likely pathogenic

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

Criteria Provided
Single Submitter

CA406496337

rs_28937901

2 SubmittersRCV001327126 RCV001831029

NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys)

SNV
Germline

Chr9:131519478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375312967

rs_1949475355

2 SubmittersRCV001350879 RCV001773704

NM_001079802.2(FKTN):c.370-2A>T

SNV
Germline

Chr9:105604213

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374331851

rs_1554752805

1 SubmittersRCV001376963

NM_001079802.2(FKTN):c.647+1G>A

SNV
Germline

Chr9:105604493

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374332448

rs_2132802825

1 SubmittersRCV001379141

NM_001077365.2(POMT1):c.427+1G>A

SNV
Germline

Chr9:131507515

Pathogenic

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

Criteria Provided
Single Submitter

CA5293261

rs_760071332

1 SubmittersRCV001378932

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

SNV
Germline

Chr9:131515424

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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Thyroid cancer, nonmedullary, 1
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA5293574

rs_746523421

5 SubmittersRCV001377161 RCV001780280 RCV003462945 RCV005912588 RCV005912587

NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)

SNV
Germline

Chr19:46755679

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA309099226

rs_1051900223

3 SubmittersRCV001379447 RCV001826153 RCV002447504

NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile)

SNV
Germline

Chr19:46756838

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA406497262

rs_2122636612

2 SubmittersRCV001377089 RCV002395858

NM_001079802.2(FKTN):c.93T>A (p.Tyr31Ter)

SNV
Germline

Chr9:105575125

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374330978

rs_2132018294

1 SubmittersRCV001385917

NM_001079802.2(FKTN):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr9:105604251

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374331937

rs_2132792099

2 SubmittersRCV001385166

NM_001079802.2(FKTN):c.914G>A (p.Trp305Ter)

SNV
Germline

Chr9:105617962

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374377382

rs_2133160637

1 SubmittersRCV001382875

NM_024301.5(FKRP):c.1A>C (p.Met1Leu)

SNV
Germline

Chr19:46755451

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406494470

rs_587777223

1 SubmittersRCV001384814

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_001079802.2(FKTN):c.648-4T>C

SNV
Germline

Chr9:105607815

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1127711290

rs_1829177357

2 SubmittersRCV001487507 RCV004037283

NM_024301.5(FKRP):c.935G>T (p.Arg312Leu)

SNV
Germline

Chr19:46756385

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Abnormality of the musculature

Criteria Provided
Conflicting Classifications

CA309099625

rs_868138875

2 SubmittersRCV001873816 RCV001814552

NM_024301.5(FKRP):c.1012G>C (p.Val338Leu)

SNV
Germline

Chr19:46756462

Pathogenic/Likely pathogenic

Abnormality of the musculature
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA406496466

rs_1173430388

2 SubmittersRCV001814334 RCV001873810

NM_024301.5(FKRP):c.1034G>C (p.Gly345Ala)

SNV
Germline

Chr19:46756484

Pathogenic/Likely pathogenic

Abnormality of the musculature
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA406496517

rs_1249694833

2 SubmittersRCV001814462 RCV005094752

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

SNV
Germline

Chr9:131515523

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375310220

rs_2131751359

3 SubmittersRCV001553600 RCV003474006 RCV003771694

NM_024301.5(FKRP):c.282C>T (p.Pro94=)

SNV
Germline

Chr19:46755732

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA507975369

rs_1267805674

2 SubmittersRCV001563828 RCV001563918 RCV001563919 RCV002072148

NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)

SNV
Germline

Chr19:46756304

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA309099522

rs_963039919

4 SubmittersRCV001563923 RCV001563925 RCV001563924 RCV001882663 RCV005409827

NM_001079802.2(FKTN):c.1173A>G (p.Lys391=)

SNV
Germline

Chr9:105635051

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA466518132

rs_2133450404

2 SubmittersRCV001567622 RCV002570764

NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)

SNV
Germline

Chr9:131509930

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293362

rs_747129906

2 SubmittersRCV001784872 RCV002544255

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

SNV
Germline

Chr9:131507401

Likely pathogenic

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
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

CA5293229

rs_1554772469

3 SubmittersRCV003772194 RCV004529018 RCV005040388

NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln)

SNV
Germline

Chr9:131521446

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293829

rs_753485021

3 SubmittersRCV001869855 RCV001840846

NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)

SNV
Germline

Chr19:46756096

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA406495729

rs_2054912295

4 SubmittersRCV001977891 RCV002361338 RCV002464501 RCV003331255

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_001079802.2(FKTN):c.106-1G>C

SNV
Germline

Chr9:105596597

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374331020

rs_2132594628

1 SubmittersRCV002029731

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

SNV
Germline

Chr19:46756511

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9532238

rs_781414509

4 SubmittersRCV001898738 RCV002490215 RCV002407033 RCV005626538

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

SNV
Germline

Chr9:131509809

Pathogenic

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

Criteria Provided
Single Submitter

CA5293333

rs_766648827

1 SubmittersRCV001964400

NM_001079802.2(FKTN):c.942T>G (p.Tyr314Ter)

SNV
Germline

Chr9:105617990

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374377447

rs_970907026

1 SubmittersRCV002007224

NM_024301.5(FKRP):c.1253G>A (p.Trp418Ter)

SNV
Germline

Chr19:46756703

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA9532282

rs_746533953

1 SubmittersRCV002035498

NM_024301.5(FKRP):c.151G>T (p.Val51Phe)

SNV
Germline

Chr19:46755601

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406494761

rs_769377092

1 SubmittersRCV001962936

NM_001079802.2(FKTN):c.369+1G>A

SNV
Germline

Chr9:105601349

Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA374331845

rs_764125009

3 SubmittersRCV002040551 RCV003491012 RCV004571967

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

SNV
Germline

Chr9:131510063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375307608

rs_776061161

2 SubmittersRCV002033289 RCV003475110

NM_001077365.2(POMT1):c.1585-2A>G

SNV
Germline

Chr9:131520078

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375312995

rs_2131880195

1 SubmittersRCV002036317

NM_024301.5(FKRP):c.161G>A (p.Arg54Gln)

SNV
Germline

Chr19:46755611

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406494776

rs_2122609879

1 SubmittersRCV002049182

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 (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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Conflicting Classifications

CA406495822

rs_2122621481

4 SubmittersRCV002014233 RCV002479773 RCV003491014 RCV003471265

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 intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375306235

rs_1289335417

3 SubmittersRCV002019789 RCV003464372 RCV005042665

NM_024301.5(FKRP):c.877A>G (p.Thr293Ala)

SNV
Germline

Chr19:46756327

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496199

rs_2122625896

1 SubmittersRCV002006464

NM_024301.5(FKRP):c.1388A>G (p.Asn463Ser)

SNV
Germline

Chr19:46756838

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406497263

rs_2122636612

1 SubmittersRCV002040974

NM_024301.5(FKRP):c.892G>T (p.Gly298Ter)

SNV
Germline

Chr19:46756342

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA406496232

rs_886043401

2 SubmittersRCV001929734 RCV004571449

NM_001079802.2(FKTN):c.106-5C>A

SNV
Germline

Chr9:105596593

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA589857821

rs_1338220455

2 SubmittersRCV002078762 RCV004046419

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
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 intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Thymoma

Criteria Provided
Multiple Submitters
No Conflicts

CA200785779

rs_961071228

5 SubmittersRCV002250254 RCV002496183 RCV003094035 RCV005930062

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

Criteria Provided
Conflicting Classifications

CA5293388

rs_759254028

4 SubmittersRCV002271903 RCV003464426 RCV003774862 RCV004017915

NM_024301.5(FKRP):c.1015C>G (p.Arg339Gly)

SNV
Germline

Chr19:46756465

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA406496471

rs_2122629515

2 SubmittersRCV002300345 RCV005409873

NM_001079802.2(FKTN):c.106-2A>C

SNV
Germline

Chr9:105596596

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA374331016

rs_1554748292

2 SubmittersRCV002410137 RCV003097264

NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)

SNV
Germline

Chr19:46756828

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA406497244

rs_2513999711

2 SubmittersRCV002381099 RCV003591949

NM_024301.5(FKRP):c.160C>G (p.Arg54Gly)

SNV
Germline

Chr19:46755610

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA309099208

rs_28937905

1 SubmittersRCV003041375

NM_024301.5(FKRP):c.961G>A (p.Ala321Thr)

SNV
Germline

Chr19:46756411

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Myopathy caused by variation in FKRP

Criteria Provided
Conflicting Classifications

CA406496366

rs_1300365457

2 SubmittersRCV003067994 RCV005636702

NM_024301.5(FKRP):c.1221C>G (p.Tyr407Ter)

SNV
Germline

Chr19:46756671

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496902

rs_1462094685

1 SubmittersRCV002598598

NM_024301.5(FKRP):c.1055G>C (p.Arg352Pro)

SNV
Germline

Chr19:46756505

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496551

rs_2513996082

1 SubmittersRCV002632739

NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)

SNV
Germline

Chr19:46756384

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 A5
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA406496314

rs_2054923228

4 SubmittersRCV002593065 RCV003224635 RCV004801225 RCV005842006

NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)

SNV
Germline

Chr19:46756142

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406495818

rs_2513991038

2 SubmittersRCV002635425 RCV005019295

NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)

SNV
Germline

Chr19:46756882

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406497353

rs_2514000287

1 SubmittersRCV002636169

NM_024301.5(FKRP):c.1100T>A (p.Ile367Asn)

SNV
Germline

Chr19:46756550

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496646

rs_1555739020

1 SubmittersRCV002672165

NM_024301.5(FKRP):c.1389C>A (p.Asn463Lys)

SNV
Germline

Chr19:46756839

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406497264

rs_765591278

1 SubmittersRCV002725323

NM_024301.5(FKRP):c.985G>A (p.Val329Met)

SNV
Germline

Chr19:46756435

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496413

rs_1179406638

1 SubmittersRCV002710932

NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)

SNV
Germline

Chr9:105596656

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA374331145

rs_1826858068

2 SubmittersRCV002735392 RCV005050630

NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)

SNV
Germline

Chr9:131512115

Pathogenic

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

Criteria Provided
Single Submitter

CA375308913

rs_1947244829

1 SubmittersRCV002791664

NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)

SNV
Germline

Chr9:131509012

Pathogenic

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

Criteria Provided
Single Submitter

CA375307086

rs_746247204

1 SubmittersRCV002815003

NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)

SNV
Germline

Chr9:131523069

Pathogenic

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

Criteria Provided
Single Submitter

CA375315388

rs_2539514312

1 SubmittersRCV002815007

NM_001079802.2(FKTN):c.369+2T>G

SNV
Germline

Chr9:105601350

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374331848

rs_2539338375

1 SubmittersRCV002838890

NM_001077365.2(POMT1):c.987-2A>G

SNV
Germline

Chr9:131512039

Likely pathogenic

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

CA375308734

rs_1453773610

1 SubmittersRCV002846242

NM_001079802.2(FKTN):c.780+2T>A

SNV
Germline

Chr9:105607953

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374332745

rs_1588136441

1 SubmittersRCV002833721

NM_001079802.2(FKTN):c.630T>A (p.Tyr210Ter)

SNV
Germline

Chr9:105604475

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374332407

rs_2539414072

1 SubmittersRCV002870855

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

SNV
Germline

Chr9:105607817

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374332453

rs_2539490128

1 SubmittersRCV002862726

NM_001079802.2(FKTN):c.911-2A>C

SNV
Germline

Chr9:105617957

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374377371

rs_2539708151

1 SubmittersRCV002863858

NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)

SNV
Germline

Chr19:46756385

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496317

rs_868138875

1 SubmittersRCV002913462

NM_024301.5(FKRP):c.863G>T (p.Gly288Val)

SNV
Germline

Chr19:46756313

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496166

rs_2513993372

1 SubmittersRCV002942360

NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)

SNV
Germline

Chr9:105620006

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA374377857

rs_2539750587

2 SubmittersRCV003015115 RCV003465898

NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)

SNV
Germline

Chr9:131518861

Likely pathogenic

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

Criteria Provided
Single Submitter

CA5293686

rs_376126988

1 SubmittersRCV003039275

NM_024301.5(FKRP):c.1385C>T (p.Pro462Leu)

SNV
Germline

Chr19:46756835

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406497258

rs_2513999779

1 SubmittersRCV003044842

NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)

SNV
Germline

Chr9:131509985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293371

rs_776314368

2 SubmittersRCV003261083 RCV003779940

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
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

CA5293500

rs_578199793

2 SubmittersRCV003463358 RCV003779070

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

SNV
Germline

Chr9:131506153

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375305617

rs_1945764912

3 SubmittersRCV003472483 RCV003779073 RCV005047605

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_024301.5(FKRP):c.1000G>T (p.Glu334Ter)

SNV
Germline

Chr19:46756450

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA406496442

rs_2054926451

2 SubmittersRCV003468197 RCV005100168

NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)

SNV
Germline

Chr19:46755667

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA406494896

rs_2513986224

2 SubmittersRCV003468201 RCV003755044

NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)

SNV
Germline

Chr9:105575081

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA374330877

rs_1272573854

4 SubmittersRCV003476406 RCV005047596 RCV006455661 RCV006473229

NM_001079802.2(FKTN):c.166-1G>A

SNV
Germline

Chr9:105601144

Likely pathogenic

Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA374331384

rs_1218736157

2 SubmittersRCV003468213 RCV003592044

NM_001079802.2(FKTN):c.910+1G>C

SNV
Germline

Chr9:105615408

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA374377366

rs_2539659214

2 SubmittersRCV003476410 RCV003755045

NM_024301.5(FKRP):c.930G>A (p.Glu310=)

SNV
Germline

Chr19:46756380

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA507976405

rs_1288927267

2 SubmittersRCV003482689 RCV003779228

NM_001079802.2(FKTN):c.745G>T (p.Glu249Ter)

SNV
Germline

Chr9:105607916

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374332667

rs_2539494607

1 SubmittersRCV003592882

NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)

SNV
Germline

Chr19:46755715

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
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

CA406494993

rs_1293404628

3 SubmittersRCV003593251 RCV004574085 RCV005616669

NM_001079802.2(FKTN):c.781-1G>A

SNV
Germline

Chr9:105615277

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374377079

rs_1830619461

1 SubmittersRCV003593308

NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)

SNV
Germline

Chr19:46755800

Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA309099259

rs_941905630

2 SubmittersRCV003593341 RCV006454445

NM_001079802.2(FKTN):c.844C>T (p.Gln282Ter)

SNV
Germline

Chr9:105615341

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374377222

rs_2539657496

1 SubmittersRCV003591580

NM_024301.5(FKRP):c.1125C>A (p.Cys375Ter)

SNV
Germline

Chr19:46756575

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496703

rs_2513996914

1 SubmittersRCV003755467

NM_024301.5(FKRP):c.587G>T (p.Gly196Val)

SNV
Germline

Chr19:46756037

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406495617

rs_2513989754

1 SubmittersRCV003755395

NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)

SNV
Germline

Chr19:46756466

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496475

rs_1450841129

1 SubmittersRCV003755680

NM_001079802.2(FKTN):c.165G>A (p.Trp55Ter)

SNV
Germline

Chr9:105596657

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374331148

rs_1458332751

1 SubmittersRCV003755809

NM_001079802.2(FKTN):c.165+1G>T

SNV
Germline

Chr9:105596658

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA374331151

rs_774922597

1 SubmittersRCV003755973

NM_024301.5(FKRP):c.857G>A (p.Trp286Ter)

SNV
Germline

Chr19:46756307

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496151

rs_2513993243

1 SubmittersRCV003755909

NM_024301.5(FKRP):c.1339C>T (p.Gln447Ter)

SNV
Germline

Chr19:46756789

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406497170

rs_2513999258

1 SubmittersRCV003756017

NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)

SNV
Germline

Chr19:46756390

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA406496327

rs_2513994340

1 SubmittersRCV003756068

NM_001077365.2(POMT1):c.856-2A>G

SNV
Germline

Chr9:131511335

Likely pathogenic

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

Criteria Provided
Single Submitter

CA5293471

rs_199927735

1 SubmittersRCV003783725

NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)

SNV
Germline

Chr9:131522172

Pathogenic

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

Criteria Provided
Single Submitter

CA375314576

rs_2539477272

1 SubmittersRCV003798174

NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)

SNV
Germline

Chr9:131507514

Pathogenic

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

Criteria Provided
Single Submitter

CA5293260

rs_777149559

1 SubmittersRCV003780596

NM_001077365.2(POMT1):c.1825+2T>C

SNV
Germline

Chr9:131521474

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375314059

rs_2539455086

1 SubmittersRCV003793280

NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)

SNV
Germline

Chr9:131504225

Pathogenic

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

Criteria Provided
Single Submitter

CA375305029

rs_371821873

1 SubmittersRCV003789429

NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)

SNV
Germline

Chr9:131518929

Pathogenic

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

Criteria Provided
Single Submitter

CA375312055

rs_1949320441

1 SubmittersRCV003803374

NM_001077365.2(POMT1):c.1273-2A>G

SNV
Germline

Chr9:131518443

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375311038

rs_2539363727

1 SubmittersRCV003800866

NM_001077365.2(POMT1):c.539+2T>C

SNV
Germline

Chr9:131509024

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375307117

rs_2539114783

1 SubmittersRCV003807309

NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)

SNV
Germline

Chr9:131518863

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375311814

rs_1178838681

1 SubmittersRCV003810451

NM_024301.5(FKRP):c.1077G>A (p.Trp359Ter)

SNV
Germline

Chr19:46756527

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2054929597

2 SubmittersRCV004576607 RCV005101930

NM_001079802.2(FKTN):c.1045-6C>G

SNV
Germline

Chr9:105619928

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005048857 RCV005105316

NM_001079802.2(FKTN):c.1173-1G>T

SNV
Germline

Chr9:105635050

Conflicting classifications of pathogenicity

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
Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043651 RCV006489283

NM_024301.5(FKRP):c.1213G>C (p.Val405Leu)

SNV
Germline

Chr19:46756663

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005108166

NM_024301.5(FKRP):c.1181G>A (p.Trp394Ter)

SNV
Germline

Chr19:46756631

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005115845

NM_024301.5(FKRP):c.155T>C (p.Leu52Pro)

SNV
Germline

Chr19:46755605

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005130219

NM_001079802.2(FKTN):c.781C>T (p.Gln261Ter)

SNV
Germline

Chr9:105615278

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005131701

NM_024301.5(FKRP):c.862G>A (p.Gly288Ser)

SNV
Germline

Chr19:46756312

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005144100 RCV005407391

NM_001079802.2(FKTN):c.676G>T (p.Gly226Ter)

SNV
Germline

Chr9:105607847

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005172949

NM_024301.5(FKRP):c.862G>C (p.Gly288Arg)

SNV
Germline

Chr19:46756312

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005181467

NM_001079802.2(FKTN):c.1134G>A (p.Trp378Ter)

SNV
Germline

Chr9:105620023

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005177027

NM_024301.5(FKRP):c.1087G>C (p.Val363Leu)

SNV
Germline

Chr19:46756537

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005195019

NM_001077365.2(POMT1):c.780C>G (p.Tyr260Ter)

SNV
Germline

Chr9:131510340

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005223345

NM_001077365.2(POMT1):c.428-1G>C

SNV
Germline

Chr9:131508910

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005219393

NM_001077365.2(POMT1):c.987-1G>A

SNV
Germline

Chr9:131512040

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005215080

NM_001077365.2(POMT1):c.1236T>A (p.Tyr412Ter)

SNV
Germline

Chr9:131515486

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005212580

NM_024301.5(FKRP):c.934C>A (p.Arg312Ser)

SNV
Germline

Chr19:46756384

Likely pathogenic

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

Criteria Provided
Single Submitter

2 SubmittersRCV005613675 RCV006613591

NM_024301.5(FKRP):c.1214T>A (p.Val405Glu)

SNV
Germline

Chr19:46756664

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006504215

NM_024301.5(FKRP):c.1078G>A (p.Asp360Asn)

SNV
Germline

Chr19:46756528

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006494749

NM_001079802.2(FKTN):c.998T>A (p.Leu333Ter)

SNV
Germline

Chr9:105618046

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006497770

NM_024301.5(FKRP):c.1309C>T (p.Gln437Ter)

SNV
Germline

Chr19:46756759

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006514286

NM_024301.5(FKRP):c.1015C>T (p.Arg339Cys)

SNV
Germline

Chr19:46756465

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006543221

NM_024301.5(FKRP):c.1385C>G (p.Pro462Arg)

SNV
Germline

Chr19:46756835

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006543223

NM_001079802.2(FKTN):c.577G>T (p.Glu193Ter)

SNV
Germline

Chr9:105604422

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006576240

NM_001077365.2(POMT1):c.699+46C>T

SNV
Germline

Chr9:131510042

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV006598928

NM_024301.5(FKRP):c.836G>A (p.Trp279Ter)

SNV
Germline

Chr19:46756286

Pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006626853

NM_024301.5(FKRP):c.1213G>A (p.Val405Met)

SNV
Germline

Chr19:46756663

Likely pathogenic

Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006621564