Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)	SNV Germline	Chr9:131506217	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278040	rs_28941782	3 SubmittersRCV000003394 RCV001171882 RCV005055501
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)	SNV Germline	Chr9:131510401	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Abnormality of the musculature Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA278042	rs_119462981	6 SubmittersRCV000003395 RCV001813941 RCV003231073 RCV003764521
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	SNV Germline	Chr9:131509801	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided Abnormality of the nervous system Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA203493	rs_119462982	12 SubmittersRCV000003399 RCV000179928 RCV001813942 RCV001385876 RCV001264826 RCV003234890 RCV005357065 RCV003472966
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)	SNV Germline	Chr9:131506184	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA116108	rs_119462983	3 SubmittersRCV002286389 RCV002512705 RCV003460408
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)	SNV Germline	Chr9:131518945	Pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA116110	rs_119462985	5 SubmittersRCV000760355 RCV001851614 RCV002286390 RCV005041976
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)	SNV Germline	Chr9:131521351	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 not specified 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	CA116112	rs_119462986	4 SubmittersRCV000175324 RCV002286391 RCV003323349 RCV003764522
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	SNV Germline	Chr9:131522160	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA116114	rs_119462987	8 SubmittersRCV000414180 RCV000694423 RCV002286394 RCV003460409
NM_001077365.2(POMT1):c.1175+1G>A	SNV Germline	Chr9:131513332	Pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA200787505	rs_1051679985	4 SubmittersRCV001383583 RCV002286395 RCV005055502 RCV003472967
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)	SNV Germline	Chr9:131508913	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K	No Assertion Criteria Provided	CA211169	rs_397514501	1 SubmittersRCV000032629
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met)	SNV Germline	Chr9:131513331	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K	No Assertion Criteria Provided	CA211172	rs_397515400	1 SubmittersRCV000032630
NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys)	SNV Germline	Chr9:131511458	Conflicting classifications of pathogenicity	Condition: not provided POMT1-related congenital myopathy	Criteria Provided Conflicting Classifications	CA222987	rs_377372480	2 SubmittersRCV000081475 RCV004586544
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	SNV Germline	Chr9:131513243	Pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Limb-girdle muscular dystrophy due to POMK deficiency Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA222989	rs_200056620	11 SubmittersRCV000081477 RCV000578428 RCV000686940 RCV002288580 RCV004689449 RCV002498428 RCV003460755
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	SNV Germline	Chr9:131506123	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy POMT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA222993	rs_398124244	8 SubmittersRCV000177268 RCV001376971 RCV002477237 RCV003474682 RCV005431467 RCV004529856
NM_001077365.2(POMT1):c.1365+15C>T	SNV Germline	Chr9:131518552	Conflicting classifications of pathogenicity	not specified 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	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 intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Intellectual disability Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA206170	rs_117985576	17 SubmittersRCV000192982 RCV000443667 RCV000515174 RCV001085429 RCV001332898 RCV001252355 RCV001166758
NM_001077365.2(POMT1):c.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 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	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 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	CA222999	rs_146982282	3 SubmittersRCV000081490 RCV001517108 RCV004734639
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)	SNV Germline	Chr9:131510287	Pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Myopathy caused by variation in POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA223003	rs_398124247	7 SubmittersRCV000081494 RCV002513831 RCV003314560 RCV003474683
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)	SNV Germline	Chr9:131510312	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA223005	rs_139660235	7 SubmittersRCV000081495 RCV000764803 RCV001341723 RCV001328597 RCV004542790
NM_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 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	CA233764	rs_727503872	3 SubmittersRCV000153047 RCV000362995 RCV001850088
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)	SNV Germline	Chr9:131521445	Pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA211187	rs_794727208	6 SubmittersRCV000175325 RCV000704810 RCV003474928
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)	SNV Germline	Chr9:131522113	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA278501	rs_149682171	7 SubmittersRCV000175455 RCV000648152 RCV005406892 RCV004567380 RCV005049457
NM_001077365.2(POMT1):c.42C>T (p.Asp14=)	SNV Germline	Chr9:131504260	Conflicting classifications of pathogenicity	not specified 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	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 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA241948	rs_138902646	5 SubmittersRCV000724246 RCV001085583 RCV001169205
NM_001077365.2(POMT1):c.2004-1G>C	SNV Germline	Chr9:131522931	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA278505	rs_745738628	2 SubmittersRCV000176087 RCV003474929
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)	SNV Germline	Chr9:131523025	Pathogenic/Likely pathogenic	Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA211189	rs_138902646	6 SubmittersRCV000176088 RCV000535678 RCV005042377 RCV003462281
NM_001077365.2(POMT1):c.129C>T (p.Asp43=)	SNV Germline	Chr9:131506120	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 not specified	Criteria Provided Conflicting Classifications	CA209472	rs_200465419	5 SubmittersRCV000724773 RCV001086998 RCV000194959
NM_001077365.2(POMT1):c.986+9A>G	SNV Germline	Chr9:131511476	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K not specified Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA206070	rs_202095070	9 SubmittersRCV000349139 RCV000192918 RCV001085720 RCV000532464
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)	SNV Germline	Chr9:131523106	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 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy POMT1-related disorder	Criteria Provided Conflicting Classifications	CA208025	rs_147143094	9 SubmittersRCV000194092 RCV001169207 RCV000712824 RCV001084644 RCV004541250
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)	SNV Germline	Chr9:131509761	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA278543	rs_772370177	2 SubmittersRCV000192686 RCV002517157
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)	SNV Germline	Chr9:131518475	Conflicting classifications of pathogenicity	not specified Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA249339	rs_377304621	6 SubmittersRCV000203138 RCV001079894 RCV000724979
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)	SNV Germline	Chr9:131521374	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA5293806	rs_144338642	7 SubmittersRCV000246533 RCV000332912 RCV000687622 RCV000725940 RCV002518638 RCV005396853
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)	SNV Germline	Chr9:131522207	Conflicting classifications of pathogenicity	not specified Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided	Criteria Provided Conflicting Classifications	CA5293886	rs_140553130	6 SubmittersRCV000248748 RCV001089075 RCV000725195
NM_001077365.2(POMT1):c.568C>T (p.Leu190=)	SNV Germline	Chr9:131509771	Conflicting classifications of pathogenicity	Condition: not provided not specified 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	CA5293324	rs_752931210	4 SubmittersRCV000724802 RCV000402228 RCV000552385 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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293550	rs_202121299	9 SubmittersRCV000394979 RCV000724838 RCV001085734 RCV004542979
NM_001077365.2(POMT1):c.970G>A (p.Asp324Asn)	SNV Germline	Chr9:131511451	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10604272	rs_886042459	2 SubmittersRCV000302034 RCV003258719
NM_001077365.2(POMT1):c.330C>G (p.Leu110=)	SNV Germline	Chr9:131507417	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	CA5293231	rs_138064523	5 SubmittersRCV000725366 RCV001080804 RCV001169105
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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	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 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	CA5293544	rs_146869947	5 SubmittersRCV000338793 RCV000376051 RCV000530614 RCV004535339
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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy 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 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	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 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA10605191	rs_376753193	3 SubmittersRCV000388581 RCV000648153 RCV005044534
NM_001077365.2(POMT1):c.1014C>T (p.His338=)	SNV Germline	Chr9:131512068	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	CA10605235	rs_886043203	2 SubmittersRCV000284032 RCV003765632
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)	SNV Germline	Chr9:131509789	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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293329	rs_199498900	6 SubmittersRCV000540929 RCV000712827 RCV002519193 RCV004543069
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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA10605359	rs_886043307	2 SubmittersRCV000298509 RCV001081730
NM_001077365.2(POMT1):c.57T>C (p.Leu19=)	SNV Germline	Chr9:131504275	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10605381	rs_886043325	2 SubmittersRCV000260919 RCV000725798
NM_001077365.2(POMT1):c.214G>T (p.Val72Leu)	SNV Germline	Chr9:131506205	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10605402	rs_780353966	2 SubmittersRCV000287328 RCV005462933
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)	SNV Germline	Chr9:131510407	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA5293451	rs_747506380	8 SubmittersRCV000712829 RCV000764805 RCV001041917 RCV004021212 RCV003454804
NM_001077365.2(POMT1):c.2067C>T (p.His689=)	SNV Germline	Chr9:131522995	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	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 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	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 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	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 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	CA10606256	rs_750972624	2 SubmittersRCV000317771 RCV005222874
NM_001077365.2(POMT1):c.1486+9G>A	SNV Germline	Chr9:131518966	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	CA5293714	rs_547775333	4 SubmittersRCV000319136 RCV000726328 RCV001395375 RCV004734945
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_001077365.2(POMT1):c.1194C>G (p.Pro398=)	SNV Germline	Chr9:131515444	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	CA5293578	rs_371653610	3 SubmittersRCV000261691 RCV000726459 RCV001415274
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)	SNV Germline	Chr9:131520142	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	CA5293766	rs_757830349	3 SubmittersRCV000367352 RCV001392641
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_001077365.2(POMT1):c.1101C>T (p.Ser367=)	SNV Germline	Chr9:131513257	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	CA5293537	rs_771523115	2 SubmittersRCV000393902 RCV003766098
NM_001077365.2(POMT1):c.*635T>G	SNV Germline	Chr9:131523741	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided	Criteria Provided Conflicting Classifications	CA10626607	rs_112845474	3 SubmittersRCV000379924 RCV002512099
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=)	SNV Germline	Chr9:131518932	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2K not specified	Criteria Provided Conflicting Classifications	CA5293702	rs_373482514	3 SubmittersRCV000878229 RCV000359663 RCV004999355
NM_001077365.2(POMT1):c.*338T>G	SNV Germline	Chr9:131523444	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided	Criteria Provided Conflicting Classifications	CA10629167	rs_193003183	2 SubmittersRCV000368478 RCV003422369
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 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	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 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	CA5293655	rs_753403833	2 SubmittersRCV000359812 RCV000902767
NM_001077365.2(POMT1):c.*25C>T	SNV Germline	Chr9:131523131	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided	Criteria Provided Conflicting Classifications	CA5293956	rs_115818625	2 SubmittersRCV000339282 RCV001597127
NM_001077365.2(POMT1):c.1486+14G>A	SNV Germline	Chr9:131518971	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K not specified Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA5293718	rs_142995404	4 SubmittersRCV000329347 RCV000429135 RCV001334644 RCV002058780
NM_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 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	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_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)	SNV Germline	Chr9:131521439	Pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA5293823	rs_761848742	3 SubmittersRCV000487062 RCV002525809 RCV003464000
NM_001077365.2(POMT1):c.921G>T (p.Leu307=)	SNV Germline	Chr9:131511402	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	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 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	CA5293728	rs_747783069	2 SubmittersRCV000504315 RCV002056869
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	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375311567	rs_1554780670	2 SubmittersRCV000548536 RCV003476298
NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn)	SNV Germline	Chr9:131518919	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5293697	rs_750937093	2 SubmittersRCV003767049 RCV005463016
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)	SNV Germline	Chr9:131518862	Pathogenic	Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA5293687	rs_746849558	2 SubmittersRCV000558807 RCV003459248
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser)	SNV Germline	Chr9:131508971	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	CA5293287	rs_182295674	4 SubmittersRCV000526210 RCV000732557
NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe)	SNV Germline	Chr9:131522142	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA5293879	rs_777437871	1 SubmittersRCV000578259
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=)	SNV Germline	Chr9:131520166	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	CA5293770	rs_200969468	2 SubmittersRCV000595211 RCV001086068
NM_001077365.2(POMT1):c.1749C>T (p.Leu583=)	SNV Germline	Chr9:131521396	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	CA5293811	rs_755379319	2 SubmittersRCV000596333 RCV002062003
NM_001077365.2(POMT1):c.1698+10C>A	SNV Germline	Chr9:131520203	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	CA5293784	rs_184131819	5 SubmittersRCV000595892 RCV000712816 RCV001087695 RCV004735643
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)	SNV Germline	Chr9:131521393	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 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293810	rs_376373313	3 SubmittersRCV000594345 RCV001459502 RCV004543349
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_001077365.2(POMT1):c.1740G>A (p.Ser580=)	SNV Germline	Chr9:131521387	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	CA5293809	rs_148758906	2 SubmittersRCV000594182 RCV003767395
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)	SNV Germline	Chr9:131506188	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 POMT1-related congenital myopathy not specified	Criteria Provided Conflicting Classifications	CA5293180	rs_757903559	8 SubmittersRCV000819538 RCV000591710 RCV002532650 RCV003459474 RCV004586824 RCV005407785
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)	SNV Germline	Chr9:131512044	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA375308747	rs_765230689	4 SubmittersRCV000595731 RCV000763189 RCV003471965 RCV003767405
NM_001077365.2(POMT1):c.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	Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375309889	rs_1554778005	2 SubmittersRCV000627277 RCV003459477
NM_001077365.2(POMT1):c.30G>A (p.Val10=)	SNV Germline	Chr9:131504248	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	Criteria Provided Conflicting Classifications	CA5293130	rs_201533471	2 SubmittersRCV000732620 RCV001504124
NM_001077365.2(POMT1):c.605+1G>C	SNV Germline	Chr9:131509809	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375307262	rs_766648827	3 SubmittersRCV000648156 RCV005046833 RCV003459544
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)	SNV Germline	Chr9:131518502	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided POMT1-related disorder Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA5293658	rs_752384050	5 SubmittersRCV000648158 RCV000733057 RCV004544878 RCV004594087
NM_001077365.2(POMT1):c.426C>T (p.Ile142=)	SNV Germline	Chr9:131507513	Conflicting classifications of pathogenicity	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided	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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA375308551	rs_753694905	2 SubmittersRCV001166679 RCV002533345
NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn)	SNV Germline	Chr9:131508926	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Single Submitter	CA375306899	rs_1564341846	1 SubmittersRCV000761585
NM_001077365.2(POMT1):c.1272+2T>C	SNV Germline	Chr9:131515524	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	CA375310225	rs_1564365317	1 SubmittersRCV000703521
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_001077365.2(POMT1):c.123-6T>C	SNV Germline	Chr9:131506108	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	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 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 not specified	Criteria Provided Conflicting Classifications	CA5293925	rs_200916353	4 SubmittersRCV000728764 RCV001506219 RCV004540038 RCV004997256
NM_001077365.2(POMT1):c.699+67G>A	SNV Germline	Chr9:131510063	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 POMT1-related disorder	Criteria Provided Conflicting Classifications	CA5293387	rs_776061161	5 SubmittersRCV000729095 RCV001379440 RCV002282347 RCV003465659 RCV005223149
NM_001077365.2(POMT1):c.141T>C (p.Tyr47=)	SNV Germline	Chr9:131506132	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	CA5293174	rs_752941420	2 SubmittersRCV000730249 RCV002060990
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)	SNV Germline	Chr9:131512069	Pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA5293502	rs_756973046	3 SubmittersRCV000734638 RCV003465669
NM_001077365.2(POMT1):c.1194C>A (p.Pro398=)	SNV Germline	Chr9:131515444	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	CA5293580	rs_371653610	2 SubmittersRCV000734808 RCV001087469
NM_001077365.2(POMT1):c.1698+1G>A	SNV Germline	Chr9:131520194	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA5293772	rs_763586263	5 SubmittersRCV001040545 RCV001784380 RCV002469286 RCV003461048
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)	SNV Germline	Chr9:131511459	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	CA375308694	rs_1588391612	1 SubmittersRCV000815478
NM_001077365.2(POMT1):c.280+1G>T	SNV Germline	Chr9:131506454	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Condition: not provided Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Multiple Submitters No Conflicts	CA5293206	rs_746823238	8 SubmittersRCV000853233 RCV001683668 RCV001869305
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)	SNV Unknown	Chr9:131523054	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter	CA5293942	rs_776988725	1 SubmittersRCV000988265
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_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	4 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 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	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_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)	SNV Germline	Chr9:131518928	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	CA375312051	rs_1191391104	1 SubmittersRCV001205242
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_001077365.2(POMT1):c.264G>A (p.Trp88Ter)	SNV Germline	Chr9:131506437	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375305860	rs_1945827957	2 SubmittersRCV001228965 RCV004570568
NM_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_001077365.2(POMT1):c.229+2T>C	SNV Germline	Chr9:131506222	Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375305773	rs_1945782278	2 SubmittersRCV001225759 RCV003473785
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)	SNV Germline	Chr9:131506160	Pathogenic	Dysgenesis of the cerebellar vermis 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	CA375305638	rs_1945766589	2 SubmittersRCV001257391 RCV003770344
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_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	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA5293574	rs_746523421	3 SubmittersRCV001377161 RCV001780280 RCV003462945
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)	SNV Germline	Chr9:131511460	Conflicting classifications of pathogenicity	Ventriculomegaly Abnormal brainstem morphology Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5293480	rs_757984572	3 SubmittersRCV001391255 RCV005040272 RCV003132493
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg)	SNV Germline	Chr9:131523026	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 not specified	Criteria Provided Conflicting Classifications	CA375315239	rs_912556508	2 SubmittersRCV001420147 RCV003323877
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)	SNV Germline	Chr9:131515505	Pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA5293596	rs_745509085	2 SubmittersRCV001449743 RCV003474001
NM_001077365.2(POMT1):c.1272+1G>A	SNV Germline	Chr9:131515523	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375310220	rs_2131751359	3 SubmittersRCV001553600 RCV003771694 RCV003474006
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)	SNV Germline	Chr9:131509930	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5293362	rs_747129906	2 SubmittersRCV002544255 RCV001784872
NM_001077365.2(POMT1):c.1058G>A (p.Trp353Ter)	SNV Germline	Chr9:131512112	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA375308904	rs_2131683250	1 SubmittersRCV001782672
NM_001077365.2(POMT1):c.692T>A (p.Leu231Ter)	SNV Germline	Chr9:131509989	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA5293372	rs_759156674	1 SubmittersRCV001782674
NM_001077365.2(POMT1):c.314G>A (p.Arg105His)	SNV Germline	Chr9:131507401	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA5293229	rs_1554772469	3 SubmittersRCV004529018 RCV003772194 RCV005040388
NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln)	SNV Germline	Chr9:131521446	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	CA5293829	rs_753485021	3 SubmittersRCV001840846 RCV001869855
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_001077365.2(POMT1):c.605+1G>T	SNV Germline	Chr9:131509809	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	CA5293333	rs_766648827	1 SubmittersRCV001964400
NM_001077365.2(POMT1):c.699+67G>T	SNV Germline	Chr9:131510063	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Conflicting Classifications	CA375307608	rs_776061161	2 SubmittersRCV002033289 RCV003475110
NM_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_001077365.2(POMT1):c.130G>A (p.Glu44Lys)	SNV Germline	Chr9:131506121	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA375305542	rs_1397478363	2 SubmittersRCV001949458 RCV003475244
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)	SNV Germline	Chr9:131507400	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Criteria Provided Multiple Submitters No Conflicts	CA375306235	rs_1289335417	3 SubmittersRCV002019789 RCV003464372 RCV005042665
NM_001077365.2(POMT1):c.986+1G>A	SNV Germline	Chr9:131511468	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA200785779	rs_961071228	4 SubmittersRCV002250254 RCV002496183 RCV003094035
NM_001077365.2(POMT1):c.767T>A (p.Leu256Ter)	SNV Germline	Chr9:131510327	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA375307747	rs_2131653908	1 SubmittersRCV002255030
NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg)	SNV Germline	Chr9:131518888	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter	CA375311913	rs_376882399	1 SubmittersRCV002267187
NM_001077365.2(POMT1):c.1925A>G (p.Tyr642Cys)	SNV Germline	Chr9:131522146	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA375314480	rs_2131922603	1 SubmittersRCV002267252
NM_001077365.2(POMT1):c.699+68T>C	SNV Germline	Chr9:131510064	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5293388	rs_759254028	4 SubmittersRCV002271903 RCV003464426 RCV003774862 RCV004017915
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)	SNV Germline	Chr9:131512115	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	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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA375315388	rs_2539514312	1 SubmittersRCV002815007
NM_001077365.2(POMT1):c.987-2A>G	SNV Germline	Chr9:131512039	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	CA375308734	rs_1453773610	1 SubmittersRCV002846242
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_001077365.2(POMT1):c.633C>A (p.Tyr211Ter)	SNV Germline	Chr9:131509930	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA5293361	rs_747129906	1 SubmittersRCV002712459
NM_001077365.2(POMT1):c.141T>G (p.Tyr47Ter)	SNV Germline	Chr9:131506132	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA375305569	rs_752941420	1 SubmittersRCV002707991
NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)	SNV Germline	Chr9:131509985	Conflicting classifications of pathogenicity	Inborn genetic diseases 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	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 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA5293500	rs_578199793	2 SubmittersRCV003463358 RCV003779070
NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)	SNV Unknown	Chr9:131509966	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter	CA375307396	rs_2539136286	1 SubmittersRCV003463365
NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)	SNV Unknown	Chr9:131521380	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter	CA375313692	rs_1465496645	1 SubmittersRCV003463367
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)	SNV Germline	Chr9:131506153	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA375305617	rs_1945764912	3 SubmittersRCV003472483 RCV005047605 RCV003779073
NM_001077365.2(POMT1):c.230-2A>G	SNV Unknown	Chr9:131506401	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter	CA375305777	rs_2539060300	1 SubmittersRCV003472484
NM_001077365.2(POMT1):c.699+24C>A	SNV Germline	Chr9:131510020	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Conflicting Classifications	CA5293376	rs_764724167	2 SubmittersRCV003472488 RCV003779075
NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)	SNV Unknown	Chr9:131521428	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter	CA375313871	rs_2539453407	1 SubmittersRCV003472491
NM_001077365.2(POMT1):c.856-2A>G	SNV Germline	Chr9:131511335	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	CA5293471	rs_199927735	1 SubmittersRCV003783725
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)	SNV Germline	Chr9:131522172	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	CA375314576	rs_2539477272	1 SubmittersRCV003798174
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)	SNV Germline	Chr9:131507514	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	CA5293260	rs_777149559	1 SubmittersRCV003780596
NM_001077365.2(POMT1):c.1825+2T>C	SNV Germline	Chr9:131521474	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	CA375314059	rs_2539455086	1 SubmittersRCV003793280
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)	SNV Germline	Chr9:131504225	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	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	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	CA375311814	rs_1178838681	1 SubmittersRCV003810451
NM_001077365.2(POMT1):c.280G>T (p.Glu94Ter)	SNV Germline	Chr9:131506453	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter	CA375305898	rs_777533386	1 SubmittersRCV003989918
NM_001077365.2(POMT1):c.230-2A>T	SNV Unknown	Chr9:131506401	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter		rs_2539060300	1 SubmittersRCV004574603
NM_001077365.2(POMT1):c.700-2A>G	SNV Unknown	Chr9:131510258	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Single Submitter		rs_1205172165	1 SubmittersRCV004574604
NM_001077365.2(POMT1):c.5G>A (p.Trp2Ter)	SNV Germline	Chr9:131504223	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter			1 SubmittersRCV005048920
NM_001077365.2(POMT1):c.229+1G>A	SNV Germline	Chr9:131506221	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter			1 SubmittersRCV005043867
NM_001077365.2(POMT1):c.1175+1G>T	SNV Germline	Chr9:131513332	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter			1 SubmittersRCV005043869
NM_001077365.2(POMT1):c.1584+1G>T	SNV Germline	Chr9:131519487	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Single Submitter			1 SubmittersRCV005043870
NM_001077365.2(POMT1):c.780C>G (p.Tyr260Ter)	SNV Germline	Chr9:131510340	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 SubmittersRCV005223345
NM_001077365.2(POMT1):c.428-1G>C	SNV Germline	Chr9:131508910	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 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	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 SubmittersRCV005212580

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

SNV
Germline

Chr9:131506217

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA278040

rs_28941782

3 SubmittersRCV000003394 RCV001171882 RCV005055501

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

SNV
Germline

Chr9:131510401

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA278042

rs_119462981

6 SubmittersRCV000003395 RCV001813941 RCV003231073 RCV003764521

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

SNV
Germline

Chr9:131509801

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203493

rs_119462982

12 SubmittersRCV000003399 RCV000179928 RCV001813942 RCV001385876 RCV001264826 RCV003234890 RCV005357065 RCV003472966

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

SNV
Germline

Chr9:131506184

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116108

rs_119462983

3 SubmittersRCV002286389 RCV002512705 RCV003460408

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

SNV
Germline

Chr9:131518945

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116110

rs_119462985

5 SubmittersRCV000760355 RCV001851614 RCV002286390 RCV005041976

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

SNV
Germline

Chr9:131521351

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
not specified
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

CA116112

rs_119462986

4 SubmittersRCV000175324 RCV002286391 RCV003323349 RCV003764522

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

SNV
Germline

Chr9:131522160

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116114

rs_119462987

8 SubmittersRCV000414180 RCV000694423 RCV002286394 RCV003460409

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

SNV
Germline

Chr9:131513332

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA200787505

rs_1051679985

4 SubmittersRCV001383583 RCV002286395 RCV005055502 RCV003472967

NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)

SNV
Germline

Chr9:131508913

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K

No Assertion Criteria Provided

CA211169

rs_397514501

1 SubmittersRCV000032629

NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met)

SNV
Germline

Chr9:131513331

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K

No Assertion Criteria Provided

CA211172

rs_397515400

1 SubmittersRCV000032630

NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys)

SNV
Germline

Chr9:131511458

Conflicting classifications of pathogenicity

Condition: not provided
POMT1-related congenital myopathy

Criteria Provided
Conflicting Classifications

CA222987

rs_377372480

2 SubmittersRCV000081475 RCV004586544

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

SNV
Germline

Chr9:131513243

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222989

rs_200056620

11 SubmittersRCV000081477 RCV000578428 RCV000686940 RCV002288580 RCV004689449 RCV002498428 RCV003460755

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

SNV
Germline

Chr9:131506123

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222993

rs_398124244

8 SubmittersRCV000177268 RCV001376971 RCV002477237 RCV003474682 RCV005431467 RCV004529856

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

SNV
Germline

Chr9:131518552

Conflicting classifications of pathogenicity

not specified
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

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

Criteria Provided
Conflicting Classifications

CA206170

rs_117985576

17 SubmittersRCV000192982 RCV000443667 RCV000515174 RCV001085429 RCV001332898 RCV001252355 RCV001166758

NM_001077365.2(POMT1):c.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
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

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
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

CA222999

rs_146982282

3 SubmittersRCV000081490 RCV001517108 RCV004734639

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

SNV
Germline

Chr9:131510287

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA223003

rs_398124247

7 SubmittersRCV000081494 RCV002513831 RCV003314560 RCV003474683

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

SNV
Germline

Chr9:131510312

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223005

rs_139660235

7 SubmittersRCV000081495 RCV000764803 RCV001341723 RCV001328597 RCV004542790

NM_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
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

CA233764

rs_727503872

3 SubmittersRCV000153047 RCV000362995 RCV001850088

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

SNV
Germline

Chr9:131521445

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA211187

rs_794727208

6 SubmittersRCV000175325 RCV000704810 RCV003474928

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

SNV
Germline

Chr9:131522113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA278501

rs_149682171

7 SubmittersRCV000175455 RCV000648152 RCV005406892 RCV004567380 RCV005049457

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

SNV
Germline

Chr9:131504260

Conflicting classifications of pathogenicity

not specified
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

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

Criteria Provided
Conflicting Classifications

CA241948

rs_138902646

5 SubmittersRCV000724246 RCV001085583 RCV001169205

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

SNV
Germline

Chr9:131522931

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA278505

rs_745738628

2 SubmittersRCV000176087 RCV003474929

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

SNV
Germline

Chr9:131523025

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA211189

rs_138902646

6 SubmittersRCV000176088 RCV000535678 RCV005042377 RCV003462281

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

SNV
Germline

Chr9:131506120

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
not specified

Criteria Provided
Conflicting Classifications

CA209472

rs_200465419

5 SubmittersRCV000724773 RCV001086998 RCV000194959

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

SNV
Germline

Chr9:131511476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206070

rs_202095070

9 SubmittersRCV000349139 RCV000192918 RCV001085720 RCV000532464

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

SNV
Germline

Chr9:131523106

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
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA208025

rs_147143094

9 SubmittersRCV000194092 RCV001169207 RCV000712824 RCV001084644 RCV004541250

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

SNV
Germline

Chr9:131509761

Pathogenic

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

Criteria Provided
Single Submitter

CA278543

rs_772370177

2 SubmittersRCV000192686 RCV002517157

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

SNV
Germline

Chr9:131518475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA249339

rs_377304621

6 SubmittersRCV000203138 RCV001079894 RCV000724979

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

SNV
Germline

Chr9:131521374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293806

rs_144338642

7 SubmittersRCV000246533 RCV000332912 RCV000687622 RCV000725940 RCV002518638 RCV005396853

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

SNV
Germline

Chr9:131522207

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293886

rs_140553130

6 SubmittersRCV000248748 RCV001089075 RCV000725195

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

SNV
Germline

Chr9:131509771

Conflicting classifications of pathogenicity

Condition: not provided
not specified
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

CA5293324

rs_752931210

4 SubmittersRCV000724802 RCV000402228 RCV000552385 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
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293550

rs_202121299

9 SubmittersRCV000394979 RCV000724838 RCV001085734 RCV004542979

NM_001077365.2(POMT1):c.970G>A (p.Asp324Asn)

SNV
Germline

Chr9:131511451

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10604272

rs_886042459

2 SubmittersRCV000302034 RCV003258719

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

SNV
Germline

Chr9:131507417

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

CA5293231

rs_138064523

5 SubmittersRCV000725366 RCV001080804 RCV001169105

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

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
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

CA5293544

rs_146869947

5 SubmittersRCV000338793 RCV000376051 RCV000530614 RCV004535339

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

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

Criteria Provided
Conflicting Classifications

CA10605191

rs_376753193

3 SubmittersRCV000388581 RCV000648153 RCV005044534

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

SNV
Germline

Chr9:131512068

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

CA10605235

rs_886043203

2 SubmittersRCV000284032 RCV003765632

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

SNV
Germline

Chr9:131509789

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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293329

rs_199498900

6 SubmittersRCV000540929 RCV000712827 RCV002519193 RCV004543069

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

Criteria Provided
Conflicting Classifications

CA10605359

rs_886043307

2 SubmittersRCV000298509 RCV001081730

NM_001077365.2(POMT1):c.57T>C (p.Leu19=)

SNV
Germline

Chr9:131504275

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10605381

rs_886043325

2 SubmittersRCV000260919 RCV000725798

NM_001077365.2(POMT1):c.214G>T (p.Val72Leu)

SNV
Germline

Chr9:131506205

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10605402

rs_780353966

2 SubmittersRCV000287328 RCV005462933

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

SNV
Germline

Chr9:131510407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293451

rs_747506380

8 SubmittersRCV000712829 RCV000764805 RCV001041917 RCV004021212 RCV003454804

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

SNV
Germline

Chr9:131522995

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

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
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

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
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

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
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

CA10606256

rs_750972624

2 SubmittersRCV000317771 RCV005222874

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

SNV
Germline

Chr9:131518966

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

CA5293714

rs_547775333

4 SubmittersRCV000319136 RCV000726328 RCV001395375 RCV004734945

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_001077365.2(POMT1):c.1194C>G (p.Pro398=)

SNV
Germline

Chr9:131515444

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

CA5293578

rs_371653610

3 SubmittersRCV000261691 RCV000726459 RCV001415274

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

SNV
Germline

Chr9:131520142

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

CA5293766

rs_757830349

3 SubmittersRCV000367352 RCV001392641

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_001077365.2(POMT1):c.1101C>T (p.Ser367=)

SNV
Germline

Chr9:131513257

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

CA5293537

rs_771523115

2 SubmittersRCV000393902 RCV003766098

NM_001077365.2(POMT1):c.*635T>G

SNV
Germline

Chr9:131523741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10626607

rs_112845474

3 SubmittersRCV000379924 RCV002512099

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

SNV
Germline

Chr9:131518932

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293702

rs_373482514

3 SubmittersRCV000878229 RCV000359663 RCV004999355

NM_001077365.2(POMT1):c.*338T>G

SNV
Germline

Chr9:131523444

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10629167

rs_193003183

2 SubmittersRCV000368478 RCV003422369

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
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

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
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

CA5293655

rs_753403833

2 SubmittersRCV000359812 RCV000902767

NM_001077365.2(POMT1):c.*25C>T

SNV
Germline

Chr9:131523131

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293956

rs_115818625

2 SubmittersRCV000339282 RCV001597127

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

SNV
Germline

Chr9:131518971

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293718

rs_142995404

4 SubmittersRCV000329347 RCV000429135 RCV001334644 RCV002058780

NM_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
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

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_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr9:131521439

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293823

rs_761848742

3 SubmittersRCV000487062 RCV002525809 RCV003464000

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

SNV
Germline

Chr9:131511402

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

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
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

CA5293728

rs_747783069

2 SubmittersRCV000504315 RCV002056869

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375311567

rs_1554780670

2 SubmittersRCV000548536 RCV003476298

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

SNV
Germline

Chr9:131518919

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5293697

rs_750937093

2 SubmittersRCV003767049 RCV005463016

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

SNV
Germline

Chr9:131518862

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293687

rs_746849558

2 SubmittersRCV000558807 RCV003459248

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

SNV
Germline

Chr9:131508971

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

CA5293287

rs_182295674

4 SubmittersRCV000526210 RCV000732557

NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe)

SNV
Germline

Chr9:131522142

Pathogenic

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

Criteria Provided
Single Submitter

CA5293879

rs_777437871

1 SubmittersRCV000578259

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

SNV
Germline

Chr9:131520166

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

CA5293770

rs_200969468

2 SubmittersRCV000595211 RCV001086068

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

SNV
Germline

Chr9:131521396

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

CA5293811

rs_755379319

2 SubmittersRCV000596333 RCV002062003

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

SNV
Germline

Chr9:131520203

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

CA5293784

rs_184131819

5 SubmittersRCV000595892 RCV000712816 RCV001087695 RCV004735643

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

SNV
Germline

Chr9:131521393

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
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293810

rs_376373313

3 SubmittersRCV000594345 RCV001459502 RCV004543349

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_001077365.2(POMT1):c.1740G>A (p.Ser580=)

SNV
Germline

Chr9:131521387

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

CA5293809

rs_148758906

2 SubmittersRCV000594182 RCV003767395

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

SNV
Germline

Chr9:131506188

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293180

rs_757903559

8 SubmittersRCV000819538 RCV000591710 RCV002532650 RCV003459474 RCV004586824 RCV005407785

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

SNV
Germline

Chr9:131512044

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375308747

rs_765230689

4 SubmittersRCV000595731 RCV000763189 RCV003471965 RCV003767405

NM_001077365.2(POMT1):c.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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375309889

rs_1554778005

2 SubmittersRCV000627277 RCV003459477

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

SNV
Germline

Chr9:131504248

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

Criteria Provided
Conflicting Classifications

CA5293130

rs_201533471

2 SubmittersRCV000732620 RCV001504124

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

SNV
Germline

Chr9:131509809

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375307262

rs_766648827

3 SubmittersRCV000648156 RCV005046833 RCV003459544

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

SNV
Germline

Chr9:131518502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293658

rs_752384050

5 SubmittersRCV000648158 RCV000733057 RCV004544878 RCV004594087

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

SNV
Germline

Chr9:131507513

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA375308551

rs_753694905

2 SubmittersRCV001166679 RCV002533345

NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn)

SNV
Germline

Chr9:131508926

Pathogenic

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

Criteria Provided
Single Submitter

CA375306899

rs_1564341846

1 SubmittersRCV000761585

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

SNV
Germline

Chr9:131515524

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

CA375310225

rs_1564365317

1 SubmittersRCV000703521

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_001077365.2(POMT1):c.123-6T>C

SNV
Germline

Chr9:131506108

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

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
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
not specified

Criteria Provided
Conflicting Classifications

CA5293925

rs_200916353

4 SubmittersRCV000728764 RCV001506219 RCV004540038 RCV004997256

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

SNV
Germline

Chr9:131510063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293387

rs_776061161

5 SubmittersRCV000729095 RCV001379440 RCV002282347 RCV003465659 RCV005223149

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

SNV
Germline

Chr9:131506132

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

CA5293174

rs_752941420

2 SubmittersRCV000730249 RCV002060990

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

SNV
Germline

Chr9:131512069

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293502

rs_756973046

3 SubmittersRCV000734638 RCV003465669

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

SNV
Germline

Chr9:131515444

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

CA5293580

rs_371653610

2 SubmittersRCV000734808 RCV001087469

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

SNV
Germline

Chr9:131520194

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293772

rs_763586263

5 SubmittersRCV001040545 RCV001784380 RCV002469286 RCV003461048

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

SNV
Germline

Chr9:131511459

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

CA375308694

rs_1588391612

1 SubmittersRCV000815478

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

SNV
Germline

Chr9:131506454

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293206

rs_746823238

8 SubmittersRCV000853233 RCV001683668 RCV001869305

NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)

SNV
Unknown

Chr9:131523054

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

CA5293942

rs_776988725

1 SubmittersRCV000988265

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_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

4 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
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

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_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)

SNV
Germline

Chr9:131518928

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

CA375312051

rs_1191391104

1 SubmittersRCV001205242

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_001077365.2(POMT1):c.264G>A (p.Trp88Ter)

SNV
Germline

Chr9:131506437

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375305860

rs_1945827957

2 SubmittersRCV001228965 RCV004570568

NM_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_001077365.2(POMT1):c.229+2T>C

SNV
Germline

Chr9:131506222

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375305773

rs_1945782278

2 SubmittersRCV001225759 RCV003473785

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

SNV
Germline

Chr9:131506160

Pathogenic

Dysgenesis of the cerebellar vermis
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

CA375305638

rs_1945766589

2 SubmittersRCV001257391 RCV003770344

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_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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293574

rs_746523421

3 SubmittersRCV001377161 RCV001780280 RCV003462945

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

SNV
Germline

Chr9:131511460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293480

rs_757984572

3 SubmittersRCV001391255 RCV005040272 RCV003132493

NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg)

SNV
Germline

Chr9:131523026

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
not specified

Criteria Provided
Conflicting Classifications

CA375315239

rs_912556508

2 SubmittersRCV001420147 RCV003323877

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

SNV
Germline

Chr9:131515505

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293596

rs_745509085

2 SubmittersRCV001449743 RCV003474001

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

SNV
Germline

Chr9:131515523

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375310220

rs_2131751359

3 SubmittersRCV001553600 RCV003771694 RCV003474006

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

SNV
Germline

Chr9:131509930

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293362

rs_747129906

2 SubmittersRCV002544255 RCV001784872

NM_001077365.2(POMT1):c.1058G>A (p.Trp353Ter)

SNV
Germline

Chr9:131512112

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA375308904

rs_2131683250

1 SubmittersRCV001782672

NM_001077365.2(POMT1):c.692T>A (p.Leu231Ter)

SNV
Germline

Chr9:131509989

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA5293372

rs_759156674

1 SubmittersRCV001782674

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

SNV
Germline

Chr9:131507401

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293229

rs_1554772469

3 SubmittersRCV004529018 RCV003772194 RCV005040388

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

SNV
Germline

Chr9:131521446

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

CA5293829

rs_753485021

3 SubmittersRCV001840846 RCV001869855

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_001077365.2(POMT1):c.605+1G>T

SNV
Germline

Chr9:131509809

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

CA5293333

rs_766648827

1 SubmittersRCV001964400

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

SNV
Germline

Chr9:131510063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375307608

rs_776061161

2 SubmittersRCV002033289 RCV003475110

NM_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_001077365.2(POMT1):c.130G>A (p.Glu44Lys)

SNV
Germline

Chr9:131506121

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375305542

rs_1397478363

2 SubmittersRCV001949458 RCV003475244

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

SNV
Germline

Chr9:131507400

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375306235

rs_1289335417

3 SubmittersRCV002019789 RCV003464372 RCV005042665

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

SNV
Germline

Chr9:131511468

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA200785779

rs_961071228

4 SubmittersRCV002250254 RCV002496183 RCV003094035

NM_001077365.2(POMT1):c.767T>A (p.Leu256Ter)

SNV
Germline

Chr9:131510327

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA375307747

rs_2131653908

1 SubmittersRCV002255030

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

SNV
Germline

Chr9:131518888

Pathogenic

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

Criteria Provided
Single Submitter

CA375311913

rs_376882399

1 SubmittersRCV002267187

NM_001077365.2(POMT1):c.1925A>G (p.Tyr642Cys)

SNV
Germline

Chr9:131522146

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA375314480

rs_2131922603

1 SubmittersRCV002267252

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

SNV
Germline

Chr9:131510064

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293388

rs_759254028

4 SubmittersRCV002271903 RCV003464426 RCV003774862 RCV004017915

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

SNV
Germline

Chr9:131512115

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

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

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

Criteria Provided
Single Submitter

CA375315388

rs_2539514312

1 SubmittersRCV002815007

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

SNV
Germline

Chr9:131512039

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

CA375308734

rs_1453773610

1 SubmittersRCV002846242

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_001077365.2(POMT1):c.633C>A (p.Tyr211Ter)

SNV
Germline

Chr9:131509930

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA5293361

rs_747129906

1 SubmittersRCV002712459

NM_001077365.2(POMT1):c.141T>G (p.Tyr47Ter)

SNV
Germline

Chr9:131506132

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA375305569

rs_752941420

1 SubmittersRCV002707991

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

SNV
Germline

Chr9:131509985

Conflicting classifications of pathogenicity

Inborn genetic diseases
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5293500

rs_578199793

2 SubmittersRCV003463358 RCV003779070

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

SNV
Unknown

Chr9:131509966

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375307396

rs_2539136286

1 SubmittersRCV003463365

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

SNV
Unknown

Chr9:131521380

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375313692

rs_1465496645

1 SubmittersRCV003463367

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

SNV
Germline

Chr9:131506153

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375305617

rs_1945764912

3 SubmittersRCV003472483 RCV005047605 RCV003779073

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

SNV
Unknown

Chr9:131506401

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375305777

rs_2539060300

1 SubmittersRCV003472484

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

SNV
Germline

Chr9:131510020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5293376

rs_764724167

2 SubmittersRCV003472488 RCV003779075

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

SNV
Unknown

Chr9:131521428

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375313871

rs_2539453407

1 SubmittersRCV003472491

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

SNV
Germline

Chr9:131511335

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

CA5293471

rs_199927735

1 SubmittersRCV003783725

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

SNV
Germline

Chr9:131522172

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

CA375314576

rs_2539477272

1 SubmittersRCV003798174

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

SNV
Germline

Chr9:131507514

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

CA5293260

rs_777149559

1 SubmittersRCV003780596

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

SNV
Germline

Chr9:131521474

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

CA375314059

rs_2539455086

1 SubmittersRCV003793280

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

SNV
Germline

Chr9:131504225

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

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

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

CA375311814

rs_1178838681

1 SubmittersRCV003810451

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

SNV
Germline

Chr9:131506453

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375305898

rs_777533386

1 SubmittersRCV003989918

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

SNV
Unknown

Chr9:131506401

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2539060300

1 SubmittersRCV004574603

NM_001077365.2(POMT1):c.700-2A>G

SNV
Unknown

Chr9:131510258

Pathogenic

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

Criteria Provided
Single Submitter

rs_1205172165

1 SubmittersRCV004574604

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

SNV
Germline

Chr9:131504223

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005048920

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

SNV
Germline

Chr9:131506221

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005043867

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

SNV
Germline

Chr9:131513332

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005043869

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

SNV
Germline

Chr9:131519487

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005043870

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

SNV
Germline

Chr9:131510340

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 SubmittersRCV005223345

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

SNV
Germline

Chr9:131508910

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 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

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 SubmittersRCV005212580