Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005476.7(GNE):c.797G>A (p.Arg266Gln)	SNV Germline	Chr9:36234105	Pathogenic	Sialuria Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA340503	rs_121908622	4 SubmittersRCV000006393 RCV001241785
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	SNV Germline	Chr9:36217399	Pathogenic	GNE myopathy Condition: not provided Sialuria GNE myopathy GNE-related disorder Sialuria Thrombocytopenia 12 with or without myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA253679	rs_28937594	23 SubmittersRCV000006396 RCV000443895 RCV000763615 RCV004748503 RCV001705582 RCV005003338
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu)	SNV Germline	Chr9:36219927	Conflicting classifications of pathogenicity	GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA253681	rs_121908625	3 SubmittersRCV000006397 RCV003764532
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)	SNV Germline	Chr9:36218225	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA253683	rs_121908626	3 SubmittersRCV000006398 RCV001385135
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	SNV Germline	Chr9:36217448	Conflicting classifications of pathogenicity	GNE myopathy Condition: not provided Sialuria GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy Sialuria GNE myopathy GNE-related disorder	Criteria Provided Conflicting Classifications	CA253688	rs_121908627	29 SubmittersRCV000202424 RCV000255973 RCV000763616 RCV001167212 RCV005041991 RCV003415667
NM_005476.7(GNE):c.909T>A (p.Cys303Ter)	SNV Germline	Chr9:36233993	Pathogenic	GNE myopathy	No Assertion Criteria Provided	CA253693	rs_121908628	1 SubmittersRCV000006400
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	SNV Germline	Chr9:36236864	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided Sialuria GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy Myopathy, autophagic vacuolar, infantile-onset	Criteria Provided Multiple Submitters No Conflicts	CA253699	rs_121908629	15 SubmittersRCV000202425 RCV000725734 RCV001051696 RCV005003339 RCV004585989
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)	SNV Germline	Chr9:36236928	Conflicting classifications of pathogenicity	GNE myopathy Condition: not provided GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA253703	rs_121908630	5 SubmittersRCV000006402 RCV000594042 RCV001383000
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)	SNV Germline	Chr9:36219940	Pathogenic	GNE myopathy Condition: not provided Sialuria GNE myopathy Thrombocytopenia 12 with or without myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA274932	rs_121908632	9 SubmittersRCV000006404 RCV000724160 RCV001217981 RCV005041992
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	SNV Germline	Chr9:36218224	Pathogenic	GNE myopathy Condition: not provided GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy Hereditary nonpolyposis colon cancer GNE myopathy Thrombocytopenia 12 with or without myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA253717	rs_62541771	18 SubmittersRCV000006406 RCV000254883 RCV000763617 RCV004566685 RCV004525844 RCV005041993
NM_005476.7(GNE):c.511A>G (p.Met171Val)	SNV Germline	Chr9:36246136	Pathogenic	GNE myopathy	No Assertion Criteria Provided	CA253719	rs_121908634	1 SubmittersRCV000006407
NM_005476.7(GNE):c.527A>T (p.Asp176Val)	SNV Germline	Chr9:36246120	Pathogenic/Likely pathogenic	Condition: not provided GNE myopathy Sialuria GNE myopathy GNE-related disorder Sialuria GNE myopathy Thrombocytopenia 12 with or without myopathy	Criteria Provided Multiple Submitters No Conflicts	CA344238	rs_139425890	12 SubmittersRCV000726858 RCV000343796 RCV001060883 RCV004748543 RCV005003420
NM_005476.7(GNE):c.711G>A (p.Leu237=)	SNV Germline	Chr9:36236890	Pathogenic	GNE myopathy GNE myopathy Sialuria	Criteria Provided Single Submitter	CA273055	rs_724159957	2 SubmittersRCV000149557 RCV003764899
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	SNV Germline	Chr9:36219894	Pathogenic	Condition: not provided Sialuria GNE myopathy Thrombocytopenia 12 with or without myopathy Sialuria GNE myopathy GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA274075	rs_748949603	13 SubmittersRCV000591867 RCV000763618 RCV005003518 RCV000366480
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)	SNV Germline	Chr9:36223478	Pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA274118	rs_786204558	5 SubmittersRCV000169277 RCV002492689
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	SNV Germline	Chr9:36234073	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided Sialuria GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA274033	rs_762106720	9 SubmittersRCV000169197 RCV000726859 RCV001041020 RCV005400429
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)	SNV Germline	Chr9:36246035	Pathogenic/Likely pathogenic	GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA273969	rs_786204476	4 SubmittersRCV000778885 RCV005042349 RCV005222793
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)	SNV Germline	Chr9:36246261	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA274432	rs_748704459	4 SubmittersRCV000169582 RCV001390245 RCV005042360
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)	SNV Germline	Chr9:36217448	Conflicting classifications of pathogenicity	GNE myopathy Sialuria Condition: not provided Inclusion Body Myopathy, Recessive Sialuria GNE myopathy GNE-related disorder	Criteria Provided Conflicting Classifications	CA239806	rs_121908627	13 SubmittersRCV000277092 RCV000315879 RCV000430334 RCV000372863 RCV000545813 RCV003416070
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)	SNV Germline	Chr9:36249370	Conflicting classifications of pathogenicity	GNE myopathy Condition: not provided Sialuria Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA241583	rs_794727279	5 SubmittersRCV000383627 RCV000598080 RCV001167866 RCV001060421
NM_005476.7(GNE):c.466T>C (p.Tyr156His)	SNV Germline	Chr9:36246181	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Thrombocytopenia Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA243356	rs_794727505	4 SubmittersRCV000177229 RCV000667198 RCV000852136 RCV001296886
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)	SNV Germline	Chr9:36236865	Pathogenic/Likely pathogenic	Condition: not provided Sialuria GNE myopathy GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA275247	rs_773729410	11 SubmittersRCV000178150 RCV000700059 RCV000984181 RCV005042386
NM_005476.7(GNE):c.647T>C (p.Val216Ala)	SNV Germline	Chr9:36236954	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided GNE myopathy Sialuria GNE myopathy Thrombocytopenia 12 with or without myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA277854	rs_779694939	11 SubmittersRCV000202427 RCV000255797 RCV000627756 RCV005003557
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp)	SNV Germline	Chr9:36229088	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy Thrombocytopenia 12 with or without myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056603	rs_150132839	5 SubmittersRCV000344814 RCV001208464 RCV001833307 RCV005044524
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)	SNV Germline	Chr9:36218201	Pathogenic/Likely pathogenic	Condition: not provided Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA10603921	rs_886042195	3 SubmittersRCV000277200 RCV002518824
NM_005476.7(GNE):c.1412-5C>T	SNV Germline	Chr9:36223003	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA5056485	rs_369078814	4 SubmittersRCV000362710 RCV001082674 RCV001273953
NM_005476.7(GNE):c.1242T>C (p.Leu414=)	SNV Germline	Chr9:36227287	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056554	rs_371881711	4 SubmittersRCV000327429 RCV001273955 RCV001086205
NM_005476.7(GNE):c.1281+6A>T	SNV Germline	Chr9:36227242	Conflicting classifications of pathogenicity	Inclusion Body Myopathy, Recessive GNE myopathy Sialuria GNE myopathy Sialuria Condition: not provided	Criteria Provided Conflicting Classifications	CA5056544	rs_201025841	5 SubmittersRCV000302070 RCV000262109 RCV000554359 RCV000356902 RCV000725111
NM_005476.7(GNE):c.165-9C>T	SNV Germline	Chr9:36246491	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy Sialuria GNE-related disorder	Criteria Provided Conflicting Classifications	CA5056754	rs_760509369	5 SubmittersRCV000725157 RCV001087030 RCV001167865 RCV001167864 RCV003909939
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)	SNV Germline	Chr9:36219847	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA5056424	rs_372732220	7 SubmittersRCV000296082 RCV001247004 RCV000664508
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)	SNV Germline	Chr9:36227397	Pathogenic	Condition: not provided GNE myopathy GNE myopathy Sialuria Inborn genetic diseases GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy	Criteria Provided Multiple Submitters No Conflicts	CA5056560	rs_199877522	13 SubmittersRCV000484722 RCV000596066 RCV000707707 RCV004021128 RCV005044529
NM_005476.7(GNE):c.843C>T (p.His281=)	SNV Germline	Chr9:36234059	Conflicting classifications of pathogenicity	not specified Condition: not provided GNE myopathy Sialuria GNE myopathy GNE-related disorder	Criteria Provided Conflicting Classifications	CA5056647	rs_138694766	6 SubmittersRCV000366745 RCV000725360 RCV001080886 RCV001273957 RCV003920068
NM_005476.7(GNE):c.1908G>A (p.Ala636=)	SNV Germline	Chr9:36218208	Conflicting classifications of pathogenicity	not specified Condition: not provided Sialuria GNE myopathy GNE myopathy Sialuria GNE-related disorder	Criteria Provided Conflicting Classifications	CA5056395	rs_200812140	6 SubmittersRCV000283228 RCV000725454 RCV001167215 RCV001167216 RCV001078869 RCV003939992
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)	SNV Germline	Chr9:36227262	Conflicting classifications of pathogenicity	Sialuria Condition: not provided GNE myopathy Inclusion Body Myopathy, Recessive GNE-related disorder Sialuria GNE myopathy not specified	Criteria Provided Conflicting Classifications	CA5056548	rs_35638832	9 SubmittersRCV000277347 RCV000343980 RCV000353363 RCV000298514 RCV003977768 RCV000533442 RCV003387823
NM_005476.7(GNE):c.2004C>T (p.Ser668=)	SNV Germline	Chr9:36217530	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy not specified	Criteria Provided Conflicting Classifications	CA5056374	rs_150045137	5 SubmittersRCV000275261 RCV001082469 RCV001273948 RCV004526657
NM_005476.7(GNE):c.804G>A (p.Lys268=)	SNV Germline	Chr9:36234098	Conflicting classifications of pathogenicity	GNE myopathy Sialuria GNE myopathy Condition: not provided GNE-related disorder	Criteria Provided Conflicting Classifications	CA5056653	rs_141814943	6 SubmittersRCV001274364 RCV001089224 RCV000725714 RCV003967746
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	SNV Germline	Chr9:36246472	Pathogenic	GNE myopathy GNE myopathy Sialuria Condition: not provided GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy	Criteria Provided Multiple Submitters No Conflicts	CA5056751	rs_745517517	7 SubmittersRCV000593290 RCV001034690 RCV000725751 RCV005044535
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)	SNV Germline	Chr9:36219856	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA10605332	rs_387906347	7 SubmittersRCV000494055 RCV000675176 RCV001385137
NM_005476.7(GNE):c.1634-7G>A	SNV Germline	Chr9:36220027	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA5056446	rs_139442869	2 SubmittersRCV000310032 RCV001079871
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)	SNV Germline	Chr9:36218272	Pathogenic	Condition: not provided GNE myopathy Sialuria GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA5056405	rs_757523840	8 SubmittersRCV000270327 RCV000692448 RCV000984180 RCV001330333
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)	SNV Germline	Chr9:36219979	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy not specified Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056438	rs_762009737	5 SubmittersRCV000305422 RCV000672432 RCV002222477 RCV001004544
NM_005476.7(GNE):c.1509C>G (p.Pro503=)	SNV Germline	Chr9:36222901	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056474	rs_141172610	5 SubmittersRCV000260873 RCV001273952 RCV001085046
NM_005476.7(GNE):c.297T>G (p.Leu99=)	SNV Germline	Chr9:36246350	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA10606154	rs_544304534	2 SubmittersRCV000389313 RCV003765659
NM_005476.7(GNE):c.207C>T (p.Asn69=)	SNV Germline	Chr9:36246440	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA5056747	rs_781586600	2 SubmittersRCV000299633 RCV001447859
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr)	SNV Germline	Chr9:36219984	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA10606187	rs_886043979	4 SubmittersRCV000282876 RCV001828255 RCV002521996
NM_005476.7(GNE):c.1070+7A>G	SNV Germline	Chr9:36229014	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056588	rs_149675783	3 SubmittersRCV000311555 RCV001089333 RCV001273956
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)	SNV Germline	Chr9:36246163	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA5056722	rs_769215411	7 SubmittersRCV000597478 RCV000594398 RCV001214147 RCV005044550
NM_005476.7(GNE):c.1234G>A (p.Val412Ile)	SNV Germline	Chr9:36227295	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056555	rs_369714039	6 SubmittersRCV000366622 RCV000688282 RCV001165684 RCV001165683
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)	SNV Germline	Chr9:36217529	Conflicting classifications of pathogenicity	Sialuria GNE myopathy GNE myopathy Condition: not provided Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA5056373	rs_776384541	8 SubmittersRCV000535604 RCV001274362 RCV000593273 RCV005044551
NM_005476.7(GNE):c.1302T>C (p.Tyr434=)	SNV Germline	Chr9:36223482	Conflicting classifications of pathogenicity	Sialuria GNE myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA10606834	rs_886044498	2 SubmittersRCV001436434 RCV000399281
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)	SNV Germline	Chr9:36249352	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA10606854	rs_886044514	6 SubmittersRCV000596007 RCV000790761 RCV001386743
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)	SNV Germline	Chr9:36246436	Conflicting classifications of pathogenicity	GNE myopathy Condition: not provided not specified Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA10606885	rs_886044539	7 SubmittersRCV000400388 RCV000657912 RCV003323497 RCV000534256
NM_005476.7(GNE):c.*1728C>T	SNV Germline	Chr9:36215637	Conflicting classifications of pathogenicity	Inclusion Body Myopathy, Recessive Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA10627315	rs_41277097	1 SubmittersRCV000290069 RCV000343565 RCV000397769
NM_005476.7(GNE):c.769+4A>G	SNV Germline	Chr9:36236828	Conflicting classifications of pathogenicity	Sialuria GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA10627319	rs_886063926	2 SubmittersRCV000386564 RCV003766110
NM_005476.7(GNE):c.315T>C (p.Asp105=)	SNV Germline	Chr9:36246332	Conflicting classifications of pathogenicity	Sialuria Inclusion Body Myopathy, Recessive GNE myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA10630085	rs_886063927	2 SubmittersRCV000284753 RCV000288779 RCV000379752 RCV002524601
NM_005476.7(GNE):c.-152G>T	SNV Germline	Chr9:36258430	Conflicting classifications of pathogenicity	Inclusion Body Myopathy, Recessive Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA10630099	rs_142004500	1 SubmittersRCV000315147 RCV000336120 RCV000394490
NM_005476.7(GNE):c.*2415T>A	SNV Germline	Chr9:36214950	Conflicting classifications of pathogenicity	Sialuria Inclusion Body Myopathy, Recessive GNE myopathy	Criteria Provided Conflicting Classifications	CA10633981	rs_143569888	1 SubmittersRCV000272475 RCV000327686 RCV000368304
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)	SNV Germline	Chr9:36222887	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041312	rs_1057516798	3 SubmittersRCV000411466 RCV001861380 RCV003480623
NM_005476.7(GNE):c.1262T>C (p.Val421Ala)	SNV Germline	Chr9:36227267	Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA16041316	rs_1057516364	3 SubmittersRCV000410389 RCV003766120
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)	SNV Germline	Chr9:36233986	Pathogenic	GNE myopathy Sialuria GNE myopathy Condition: not provided Sialuria GNE myopathy Thrombocytopenia 12 with or without myopathy	Criteria Provided Multiple Submitters No Conflicts	CA16041318	rs_1057516374	6 SubmittersRCV000409849 RCV001390114 RCV001782866 RCV005004141
NM_005476.7(GNE):c.856C>T (p.Gln286Ter)	SNV Germline	Chr9:36234046	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy Sialuria GNE myopathy Thrombocytopenia 12 with or without myopathy	Criteria Provided Multiple Submitters No Conflicts	CA16041319	rs_1057516746	3 SubmittersRCV000409391 RCV001861376 RCV005044610
NM_005476.7(GNE):c.655C>T (p.Gln219Ter)	SNV Germline	Chr9:36236946	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA16041320	rs_1057516906	4 SubmittersRCV000412423 RCV003144245 RCV003766130
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)	SNV Germline	Chr9:36246262	Pathogenic	Sialuria GNE myopathy GNE myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5056732	rs_372872777	6 SubmittersRCV001388253 RCV000411076 RCV001782873
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)	SNV Germline	Chr9:36222839	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy Condition: not provided Sialuria GNE myopathy Thrombocytopenia 12 with or without myopathy	Criteria Provided Multiple Submitters No Conflicts	CA5056466	rs_764698870	9 SubmittersRCV000487445 RCV000763619 RCV003139687 RCV005044732
NM_005476.7(GNE):c.79C>T (p.Pro27Ser)	SNV Germline	Chr9:36249277	Pathogenic	Sialuria GNE myopathy GNE myopathy	Criteria Provided Single Submitter	CA373421897	rs_1554664064	2 SubmittersRCV000532348 RCV001834779
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter)	SNV Germline	Chr9:36219884	Pathogenic	Condition: not provided GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA373425565	rs_111302956	2 SubmittersRCV000579073 RCV002526936
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)	SNV Germline	Chr9:36249318	Pathogenic	Condition: not provided GNE myopathy GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA373422109	rs_1209266607	7 SubmittersRCV000594728 RCV000755013 RCV001853994
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)	SNV Germline	Chr9:36222827	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA192843496	rs_986773986	4 SubmittersRCV000596934 RCV000671522 RCV001378882
NM_005476.7(GNE):c.616G>A (p.Gly206Ser)	SNV Germline	Chr9:36246031	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA5056701	rs_766266918	3 SubmittersRCV000593554 RCV001379220 RCV004568311
NM_005476.7(GNE):c.961C>T (p.Arg321Cys)	SNV Germline	Chr9:36233941	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy	Criteria Provided Conflicting Classifications	CA373430492	rs_1554661030	3 SubmittersRCV000597115 RCV003465336
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	SNV Germline	Chr9:36234009	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA5056641	rs_757091387	7 SubmittersRCV000597462 RCV000726827 RCV002476292
NM_005476.7(GNE):c.917G>A (p.Arg306Gln)	SNV Germline	Chr9:36233985	Likely pathogenic	Condition: not provided GNE myopathy Thrombocytopenia 12 with or without myopathy GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA373430587	rs_1455785164	3 SubmittersRCV000592708 RCV004586813 RCV005044883
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)	SNV Germline	Chr9:36219883	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA5056429	rs_752286512	5 SubmittersRCV000595256 RCV003465337 RCV003767363
NM_005476.7(GNE):c.2003C>T (p.Ser668Phe)	SNV Germline	Chr9:36217531	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA373424635	rs_1258671706	3 SubmittersRCV000593521 RCV001854024 RCV003459467
NM_005476.7(GNE):c.617-2A>G	SNV Germline	Chr9:36236986	Pathogenic/Likely pathogenic	Condition: not provided GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA373415630	rs_1554661582	2 SubmittersRCV000596372 RCV003465342
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)	SNV Germline	Chr9:36218209	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5056396	rs_756488394	6 SubmittersRCV000595393 RCV000702554 RCV001834889 RCV003352934
NM_005476.7(GNE):c.1674C>T (p.His558=)	SNV Germline	Chr9:36219980	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA192841412	rs_144931111	2 SubmittersRCV000592892 RCV001430991
NM_005476.7(GNE):c.1412-4G>A	SNV Germline	Chr9:36223002	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy not specified Sialuria	Criteria Provided Conflicting Classifications	CA5056484	rs_146067766	7 SubmittersRCV000593407 RCV001169667 RCV001245184 RCV001553584 RCV001169666
NM_005476.7(GNE):c.1020A>G (p.Gln340=)	SNV Germline	Chr9:36229071	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056598	rs_747807631	2 SubmittersRCV000593372 RCV001089318
NM_005476.7(GNE):c.1620T>C (p.Leu540=)	SNV Germline	Chr9:36222790	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056461	rs_774849278	2 SubmittersRCV000593462 RCV002065175
NM_005476.7(GNE):c.1638C>T (p.Ile546=)	SNV Germline	Chr9:36220016	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056444	rs_147768211	2 SubmittersRCV000591186 RCV001483350
NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)	SNV Germline	Chr9:36222998	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy	Criteria Provided Conflicting Classifications	CA373427005	rs_1439999698	3 SubmittersRCV000594077 RCV003319384
NM_005476.7(GNE):c.1293T>A (p.Val431=)	SNV Germline	Chr9:36223491	Conflicting classifications of pathogenicity	not specified Sialuria GNE myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA5056506	rs_143485388	3 SubmittersRCV000611020 RCV000871791 RCV001169669 RCV001169668
NM_005476.7(GNE):c.2097G>A (p.Ser699=)	SNV Germline	Chr9:36217437	Conflicting classifications of pathogenicity	Sialuria GNE myopathy GNE myopathy GNE-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5056349	rs_200490682	4 SubmittersRCV000635386 RCV001829785 RCV004748874 RCV004691980
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)	SNV Germline	Chr9:36222854	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA373426330	rs_1554658910	4 SubmittersRCV000672708 RCV003140071 RCV005046900
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)	SNV Unknown	Chr9:36222925	Pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373426660	rs_1212623980	2 SubmittersRCV000669224
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu)	SNV Germline	Chr9:36229034	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373429912	rs_1554660090	2 SubmittersRCV000668924
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)	SNV Germline	Chr9:36236879	Conflicting classifications of pathogenicity	GNE myopathy Sialuria GNE myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA5056674	rs_759945787	4 SubmittersRCV000667485 RCV001390785 RCV000733198
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)	SNV Germline	Chr9:36246346	Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA5056739	rs_148523065	3 SubmittersRCV000670623 RCV001868246
NM_005476.7(GNE):c.31C>T (p.Arg11Trp)	SNV Germline	Chr9:36249325	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA5056777	rs_769716748	5 SubmittersRCV000665671 RCV001784233 RCV002530662
NM_005476.7(GNE):c.2122G>A (p.Gly708Ser)	SNV Unknown	Chr9:36217412	Likely pathogenic	GNE myopathy	No Assertion Criteria Provided	CA373424260	rs_1554657922	1 SubmittersRCV000668880
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)	SNV Germline	Chr9:36222885	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA5056471	rs_754892377	3 SubmittersRCV000669521 RCV001861778
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)	SNV Germline	Chr9:36227271	Pathogenic	GNE myopathy Sialuria GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5056550	rs_747199032	5 SubmittersRCV000667517 RCV001220120 RCV005046870 RCV001592847
NM_005476.7(GNE):c.572C>G (p.Ser191Ter)	SNV Unknown	Chr9:36246075	Likely pathogenic	GNE myopathy	No Assertion Criteria Provided	CA373418085	rs_1357906793	1 SubmittersRCV000666017
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)	SNV Unknown	Chr9:36233992	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA5056638	rs_755743750	2 SubmittersRCV000670521
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)	SNV Germline	Chr9:36246049	Conflicting classifications of pathogenicity	GNE myopathy not specified Sialuria GNE myopathy Condition: not provided Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA5056708	rs_369328625	7 SubmittersRCV000674921 RCV003117482 RCV001318626 RCV001784298 RCV005004355
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)	SNV Germline	Chr9:36246118	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA5056716	rs_539332585	5 SubmittersRCV000668839 RCV003767968
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)	SNV Germline	Chr9:36249276	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA373421895	rs_1236647498	6 SubmittersRCV000666276 RCV001214257 RCV003140061
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)	SNV Germline	Chr9:36249334	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA5056780	rs_766420673	4 SubmittersRCV000668355 RCV002530742
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter)	SNV Germline	Chr9:36249361	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA373422305	rs_1554664090	3 SubmittersRCV000671495 RCV001855561
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn)	SNV Germline	Chr9:36222935	Conflicting classifications of pathogenicity	GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA373426721	rs_1563930321	2 SubmittersRCV000706645 RCV002285170
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)	SNV Germline	Chr9:36276927	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy Sialuria GNE myopathy Thrombocytopenia 12 with or without myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA5056831	rs_200763627	8 SubmittersRCV000733643 RCV000763620 RCV005400463 RCV004796290
NM_005476.7(GNE):c.1933+8T>C	SNV Germline	Chr9:36218175	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056391	rs_768321445	2 SubmittersRCV000732242 RCV001501047
NM_001128227.3(GNE):c.15T>C (p.Gly5=)	SNV Germline	Chr9:36276930	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056834	rs_192260997	2 SubmittersRCV000732423 RCV001465727
NM_005476.7(GNE):c.32G>A (p.Arg11Gln)	SNV Germline	Chr9:36249324	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy Sialuria GNE myopathy Thrombocytopenia 12 with or without myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA373422137	rs_1401082365	4 SubmittersRCV000732542 RCV001050314 RCV005046997 RCV004579561
NM_005476.7(GNE):c.1572G>A (p.Ala524=)	SNV Germline	Chr9:36222838	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056465	rs_112824871	3 SubmittersRCV000733062 RCV001059873 RCV001273951
NM_005476.7(GNE):c.2070C>T (p.Ser690=)	SNV Germline	Chr9:36217464	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA5056356	rs_776582567	2 SubmittersRCV000733195 RCV001089443
NM_005476.7(GNE):c.726A>G (p.Ser242=)	SNV Germline	Chr9:36236875	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA5056671	rs_763368889	2 SubmittersRCV000734318 RCV001429093
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser)	SNV Germline	Chr9:36222879	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA192843515	rs_966918577	3 SubmittersRCV000734973 RCV001385021 RCV005049677
NM_005476.7(GNE):c.2079C>T (p.Asp693=)	SNV Germline	Chr9:36217455	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA5056353	rs_548244588	3 SubmittersRCV000735138 RCV001167213 RCV001167214 RCV001493584
NM_005476.7(GNE):c.445G>T (p.Ala149Ser)	SNV Germline	Chr9:36246202	Likely pathogenic	GNE myopathy	No Assertion Criteria Provided	CA373418649	rs_1563946658	1 SubmittersRCV000786067
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu)	SNV Germline	Chr9:36217438	Conflicting classifications of pathogenicity	Sialuria Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056350	rs_552758282	2 SubmittersRCV001165629 RCV001856164
NM_005476.7(GNE):c.1767A>G (p.Ala589=)	SNV Germline	Chr9:36219887	Conflicting classifications of pathogenicity	Sialuria GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056430	rs_777310871	3 SubmittersRCV001066169 RCV001167795 RCV001167794
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)	SNV Germline	Chr9:36219994	Conflicting classifications of pathogenicity	Sialuria GNE myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5056442	rs_766818430	2 SubmittersRCV003086902 RCV003269456
NM_005476.7(GNE):c.617-1G>A	SNV Germline	Chr9:36236985	Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA373415625	rs_1256419231	2 SubmittersRCV001378205 RCV003462956
NM_005476.7(GNE):c.1251G>A (p.Thr417=)	SNV Germline	Chr9:36227278	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy Sialuria GNE myopathy GNE-related disorder	Criteria Provided Conflicting Classifications	CA5056552	rs_758086020	5 SubmittersRCV000841722 RCV001165682 RCV001165681 RCV001465340 RCV003892768
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)	SNV Germline	Chr9:36217511	Pathogenic/Likely pathogenic	Sialuria GNE myopathy GNE myopathy Condition: not provided Thrombocytopenia 12 with or without myopathy Sialuria GNE myopathy Myopathy, autophagic vacuolar, infantile-onset	Criteria Provided Multiple Submitters No Conflicts	CA373424589	rs_1191857860	7 SubmittersRCV001067578 RCV002509608 RCV003142021 RCV005049758 RCV004587035
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)	SNV Germline	Chr9:36249351	Pathogenic/Likely pathogenic	Condition: not provided GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA373422267	rs_1830025657	4 SubmittersRCV001092264 RCV001390115 RCV003469287
NM_005476.7(GNE):c.*1660A>G	SNV Germline	Chr9:36215705	Conflicting classifications of pathogenicity	GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA192837537	rs_185870650	1 SubmittersRCV001167084 RCV001167085
NM_005476.7(GNE):c.1482G>A (p.Glu494=)	SNV Germline	Chr9:36222928	Conflicting classifications of pathogenicity	GNE myopathy Sialuria GNE myopathy Sialuria Condition: not provided	Criteria Provided Conflicting Classifications	CA464495243	rs_1485580233	3 SubmittersRCV001169665 RCV001167798 RCV002559605 RCV004570328
NM_005476.7(GNE):c.753T>C (p.Phe251=)	SNV Germline	Chr9:36236848	Conflicting classifications of pathogenicity	Sialuria GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA192820810	rs_370479900	2 SubmittersRCV001167277 RCV001167276 RCV002068025
NM_005476.7(GNE):c.530G>A (p.Arg177His)	SNV Germline	Chr9:36246117	Conflicting classifications of pathogenicity	GNE myopathy Sialuria Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056715	rs_772597073	2 SubmittersRCV001167279 RCV001167278 RCV005213478
NM_005476.7(GNE):c.1281+13C>A	SNV Germline	Chr9:36227235	Conflicting classifications of pathogenicity	Sialuria GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA1139660953	rs_1022557448	2 SubmittersRCV001169670 RCV001169671 RCV005225253
NM_005476.7(GNE):c.1468A>T (p.Lys490Ter)	SNV Germline	Chr9:36222942	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA373426751	rs_1554658955	1 SubmittersRCV001227701
NM_005476.7(GNE):c.787C>T (p.Arg263Ter)	SNV Germline	Chr9:36234115	Pathogenic	Sialuria GNE myopathy GNE myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5056654	rs_200643106	3 SubmittersRCV001241482 RCV001835105 RCV003142209
NM_005476.7(GNE):c.1294A>T (p.Lys432Ter)	SNV Unknown	Chr9:36223490	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373428010	rs_1828703342	1 SubmittersRCV001264347
NM_005476.7(GNE):c.1229T>A (p.Leu410Ter)	SNV Unknown	Chr9:36227300	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373428694	rs_1828914261	1 SubmittersRCV001264348
NM_005476.7(GNE):c.1153A>T (p.Lys385Ter)	SNV Unknown	Chr9:36227376	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373428923	rs_1828921198	1 SubmittersRCV001264349
NM_005476.7(GNE):c.1075A>T (p.Lys359Ter)	SNV Unknown	Chr9:36227454	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373429240	rs_1828929851	1 SubmittersRCV001263568
NM_005476.7(GNE):c.1033C>T (p.Gln345Ter)	SNV Unknown	Chr9:36229058	Likely pathogenic	GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA373429993	rs_1829027066	2 SubmittersRCV001263569
NM_005476.7(GNE):c.955G>T (p.Gly319Ter)	SNV Unknown	Chr9:36233947	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373430506	rs_1829284405	1 SubmittersRCV001263570
NM_005476.7(GNE):c.811G>T (p.Glu271Ter)	SNV Unknown	Chr9:36234091	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373430824	rs_1829294478	1 SubmittersRCV001263571
NM_005476.7(GNE):c.1816+5G>A	SNV Germline	Chr9:36219833	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA2499219906	rs_2133005844	1 SubmittersRCV001385136
NM_005476.7(GNE):c.1200T>C (p.Ile400=)	SNV Germline	Chr9:36227329	Conflicting classifications of pathogenicity	Sialuria GNE myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA464495620	rs_1173945551	2 SubmittersRCV001397541 RCV004809582
NM_005476.7(GNE):c.302G>A (p.Arg101His)	SNV Germline	Chr9:36246345	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA5056738	rs_144727134	5 SubmittersRCV001756633 RCV001882823 RCV003314014
NM_005476.7(GNE):c.1132G>C (p.Asp378His)	SNV Germline	Chr9:36227397	Likely pathogenic	GNE myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA373428995	rs_199877522	2 SubmittersRCV004699471 RCV001782212
NM_005476.7(GNE):c.1048C>T (p.Gln350Ter)	SNV Germline	Chr9:36229043	Pathogenic	GNE myopathy Sialuria	Criteria Provided Single Submitter	CA373429943	rs_1276168825	1 SubmittersRCV001960552
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter)	SNV Germline	Chr9:36229073	Pathogenic/Likely pathogenic	Sialuria GNE myopathy GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA192848659	rs_983424324	2 SubmittersRCV001878074 RCV003464209
NM_005476.7(GNE):c.1789C>T (p.Gln597Ter)	SNV Germline	Chr9:36219865	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA373425523	rs_2133006228	1 SubmittersRCV001889822
NM_005476.7(GNE):c.794T>C (p.Met265Thr)	SNV Germline	Chr9:36234108	Conflicting classifications of pathogenicity	Sialuria GNE myopathy not specified GNE myopathy	Criteria Provided Conflicting Classifications	CA373430863	rs_2133068813	3 SubmittersRCV001976550 RCV002266079 RCV005095496
NM_005476.7(GNE):c.982+2T>A	SNV Germline	Chr9:36233918	Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA373430438	rs_2133067872	2 SubmittersRCV002043361 RCV004571976
NM_005476.7(GNE):c.425T>C (p.Ile142Thr)	SNV Germline	Chr9:36246222	Conflicting classifications of pathogenicity	GNE myopathy Sialuria Thrombocytopenia 12 with or without myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA373418750	rs_1829868500	2 SubmittersRCV001915614 RCV005042497
NM_005476.7(GNE):c.1071-4G>T	SNV Germline	Chr9:36227462	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA1846342569	rs_567349676	2 SubmittersRCV002224908 RCV003089190
NM_005476.7(GNE):c.448A>G (p.Ile150Val)	SNV Germline	Chr9:36246199	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373418640	rs_758814313	1 SubmittersRCV002251107
NM_005476.7(GNE):c.1031T>A (p.Leu344Ter)	SNV Unknown	Chr9:36229060	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373430003	rs_2489680991	1 SubmittersRCV002308151
NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)	SNV Unknown	Chr9:36219867	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373425529	rs_112061124	1 SubmittersRCV002310387
NM_005476.7(GNE):c.622G>A (p.Asp208Asn)	SNV Germline	Chr9:36236979	Likely pathogenic	GNE myopathy Sialuria	Criteria Provided Single Submitter	CA373415594	rs_2489735126	1 SubmittersRCV003062212
NM_005476.7(GNE):c.556T>C (p.Tyr186His)	SNV Germline	Chr9:36246091	Pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA373418165	rs_2489786253	2 SubmittersRCV003062213 RCV004700910
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)	SNV Germline	Chr9:36222871	Pathogenic	Sialuria GNE myopathy Condition: not provided GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA373426403	rs_1563930168	3 SubmittersRCV002637481 RCV003140129 RCV003459764
NM_001128227.3(GNE):c.22C>T (p.Gln8Ter)	SNV Germline	Chr9:36276923	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA373429444	rs_2489933518	1 SubmittersRCV003043319
NM_005476.7(GNE):c.557A>G (p.Tyr186Cys)	SNV Germline	Chr9:36246090	Likely pathogenic	Condition: not provided GNE myopathy Thrombocytopenia 12 with or without myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA5056713	rs_747496165	2 SubmittersRCV003145889 RCV005047436
NM_005476.7(GNE):c.878A>G (p.His293Arg)	SNV Germline	Chr9:36234024	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373430672	rs_2489716585	1 SubmittersRCV003337935
NM_005476.7(GNE):c.1885C>T (p.Gln629Ter)	SNV Unknown	Chr9:36218231	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373425060	rs_2489591319	1 SubmittersRCV003468281
NM_005476.7(GNE):c.827T>G (p.Phe276Cys)	SNV Germline	Chr9:36234075	Pathogenic/Likely pathogenic	GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA373430786	rs_2489717397	2 SubmittersRCV003468283
NM_005476.7(GNE):c.865C>T (p.Gln289Ter)	SNV Germline	Chr9:36234037	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA5056645	rs_775446242	1 SubmittersRCV003781312
NM_005476.7(GNE):c.1071-2A>C	SNV Germline	Chr9:36227460	Likely pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA373429272	rs_1828930645	1 SubmittersRCV003798307
NM_005476.7(GNE):c.1817-2A>G	SNV Germline	Chr9:36218301	Likely pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA373425304	rs_2489592662	1 SubmittersRCV003792517
NM_005476.7(GNE):c.869T>A (p.Leu290Ter)	SNV Germline	Chr9:36234033	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA373430693	rs_2489716716	1 SubmittersRCV003803776
NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)	SNV Germline	Chr9:36217509	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA373424581	rs_1479027996	1 SubmittersRCV003809157
NM_005476.7(GNE):c.1411+1G>C	SNV Germline	Chr9:36223372	Likely pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA373427061	rs_1828696455	1 SubmittersRCV003800524
NM_001128227.3(GNE):c.51+2T>A	SNV Germline	Chr9:36276892	Likely pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter	CA373429356	rs_2489933374	1 SubmittersRCV003812375
NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr9:36229031	Pathogenic	GNE myopathy Sialuria	Criteria Provided Single Submitter	CA373429899	rs_1829025291	1 SubmittersRCV003805038
NM_005476.7(GNE):c.1933+1G>C	SNV Germline	Chr9:36218182	Pathogenic	GNE myopathy Sialuria	Criteria Provided Single Submitter	CA373424897	rs_2489590578	1 SubmittersRCV003805086
NM_005476.7(GNE):c.503T>C (p.Leu168Pro)	SNV Germline	Chr9:36246144	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter	CA373418396	rs_2489786751	1 SubmittersRCV003989380
NM_005476.7(GNE):c.496C>T (p.Gln166Ter)	SNV Unknown	Chr9:36246151	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter		rs_2489786839	1 SubmittersRCV004576687
NM_005476.7(GNE):c.1888G>A (p.Ala630Thr)	SNV Unknown	Chr9:36218228	Pathogenic	GNE myopathy	Criteria Provided Single Submitter		rs_1382191649	1 SubmittersRCV004576690
NM_005476.7(GNE):c.2056C>T (p.Gln686Ter)	SNV Unknown	Chr9:36217478	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter		rs_758253709	1 SubmittersRCV004576694
NM_005476.7(GNE):c.1634-1G>T	SNV Germline	Chr9:36220021	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004789704
NM_005476.7(GNE):c.1237G>T (p.Asp413Tyr)	SNV Germline	Chr9:36227292	Likely pathogenic	Thrombocytopenia 12 with or without myopathy GNE myopathy Sialuria	Criteria Provided Single Submitter			1 SubmittersRCV005048368
NM_001128227.3(GNE):c.51+1G>A	SNV Germline	Chr9:36276893	Likely pathogenic	Thrombocytopenia 12 with or without myopathy GNE myopathy Sialuria	Criteria Provided Single Submitter			1 SubmittersRCV005048371
NM_005476.7(GNE):c.1477C>T (p.Gln493Ter)	SNV Germline	Chr9:36222933	Pathogenic	GNE myopathy Sialuria	Criteria Provided Single Submitter			1 SubmittersRCV005217510
NM_005476.7(GNE):c.616+1G>A	SNV Germline	Chr9:36246030	Likely pathogenic	GNE myopathy Sialuria	Criteria Provided Single Submitter			1 SubmittersRCV005219741
NM_005476.7(GNE):c.1071-1G>A	SNV Germline	Chr9:36227459	Likely pathogenic	GNE myopathy Sialuria	Criteria Provided Single Submitter			1 SubmittersRCV005219764
NM_005476.7(GNE):c.985G>T (p.Glu329Ter)	SNV Germline	Chr9:36229106	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005214878
NM_005476.7(GNE):c.976G>T (p.Glu326Ter)	SNV Germline	Chr9:36233926	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005216400
NM_005476.7(GNE):c.1741T>G (p.Cys581Gly)	SNV Germline	Chr9:36219913	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005410201
NM_005476.7(GNE):c.1584T>A (p.Phe528Leu)	SNV Germline	Chr9:36222826	Likely pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005410257
NM_005476.7(GNE):c.-42-1G>A	SNV Unknown	Chr9:36249398	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005604907
NM_005476.7(GNE):c.769+870C>T	SNV Germline	Chr9:36235962	Pathogenic	GNE myopathy	No Assertion Criteria Provided			1 SubmittersRCV005616156
NM_005476.7(GNE):c.1412-2A>G	SNV Germline	Chr9:36223000	Likely pathogenic	GNE myopathy	No Assertion Criteria Provided			1 SubmittersRCV005616166
NM_005476.7(GNE):c.2111C>G (p.Pro704Arg)	SNV Germline	Chr9:36217423	Likely pathogenic	GNE myopathy	No Assertion Criteria Provided			1 SubmittersRCV005616171
NM_005476.7(GNE):c.1090G>A (p.Gly364Arg)	SNV Germline	Chr9:36227439	Likely pathogenic	GNE myopathy	No Assertion Criteria Provided			1 SubmittersRCV005616175
NM_005476.7(GNE):c.1688G>A (p.Cys563Tyr)	SNV Germline	Chr9:36219966	Likely pathogenic	GNE myopathy	No Assertion Criteria Provided			1 SubmittersRCV005616176

SNV
Germline

Chr9:36234105

Pathogenic

Sialuria
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA340503

rs_121908622

4 SubmittersRCV000006393 RCV001241785

NM_005476.7(GNE):c.2135T>C (p.Met712Thr)

SNV
Germline

Chr9:36217399

Pathogenic

GNE myopathy
Condition: not provided
Sialuria
GNE myopathy
GNE-related disorder
Sialuria
Thrombocytopenia 12 with or without myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA253679

rs_28937594

23 SubmittersRCV000006396 RCV000443895 RCV000763615 RCV004748503 RCV001705582 RCV005003338

NM_005476.7(GNE):c.1727G>A (p.Gly576Glu)

SNV
Germline

Chr9:36219927

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA253681

rs_121908625

3 SubmittersRCV000006397 RCV003764532

NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)

SNV
Germline

Chr9:36218225

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA253683

rs_121908626

3 SubmittersRCV000006398 RCV001385135

NM_005476.7(GNE):c.2086G>A (p.Val696Met)

SNV
Germline

Chr9:36217448

Conflicting classifications of pathogenicity

GNE myopathy
Condition: not provided
Sialuria
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
Sialuria
GNE myopathy
GNE-related disorder

Criteria Provided
Conflicting Classifications

CA253688

rs_121908627

29 SubmittersRCV000202424 RCV000255973 RCV000763616 RCV001167212 RCV005041991 RCV003415667

NM_005476.7(GNE):c.909T>A (p.Cys303Ter)

SNV
Germline

Chr9:36233993

Pathogenic

GNE myopathy

No Assertion Criteria Provided

CA253693

rs_121908628

1 SubmittersRCV000006400

NM_005476.7(GNE):c.737G>A (p.Arg246Gln)

SNV
Germline

Chr9:36236864

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided
Sialuria
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy
Myopathy, autophagic vacuolar, infantile-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA253699

rs_121908629

15 SubmittersRCV000202425 RCV000725734 RCV001051696 RCV005003339 RCV004585989

NM_005476.7(GNE):c.673G>A (p.Asp225Asn)

SNV
Germline

Chr9:36236928

Conflicting classifications of pathogenicity

GNE myopathy
Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA253703

rs_121908630

5 SubmittersRCV000006402 RCV000594042 RCV001383000

NM_005476.7(GNE):c.1714G>C (p.Val572Leu)

SNV
Germline

Chr9:36219940

Pathogenic

GNE myopathy
Condition: not provided
Sialuria
GNE myopathy
Thrombocytopenia 12 with or without myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA274932

rs_121908632

9 SubmittersRCV000006404 RCV000724160 RCV001217981 RCV005041992

NM_005476.7(GNE):c.1892C>T (p.Ala631Val)

SNV
Germline

Chr9:36218224

Pathogenic

GNE myopathy
Condition: not provided
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
Hereditary nonpolyposis colon cancer
GNE myopathy
Thrombocytopenia 12 with or without myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA253717

rs_62541771

18 SubmittersRCV000006406 RCV000254883 RCV000763617 RCV004566685 RCV004525844 RCV005041993

NM_005476.7(GNE):c.511A>G (p.Met171Val)

SNV
Germline

Chr9:36246136

Pathogenic

GNE myopathy

No Assertion Criteria Provided

CA253719

rs_121908634

1 SubmittersRCV000006407

NM_005476.7(GNE):c.527A>T (p.Asp176Val)

SNV
Germline

Chr9:36246120

Pathogenic/Likely pathogenic

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy
GNE-related disorder
Sialuria
GNE myopathy
Thrombocytopenia 12 with or without myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA344238

rs_139425890

12 SubmittersRCV000726858 RCV000343796 RCV001060883 RCV004748543 RCV005003420

NM_005476.7(GNE):c.711G>A (p.Leu237=)

SNV
Germline

Chr9:36236890

Pathogenic

GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Single Submitter

CA273055

rs_724159957

2 SubmittersRCV000149557 RCV003764899

NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)

SNV
Germline

Chr9:36219894

Pathogenic

Condition: not provided
Sialuria
GNE myopathy
Thrombocytopenia 12 with or without myopathy
Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA274075

rs_748949603

13 SubmittersRCV000591867 RCV000763618 RCV005003518 RCV000366480

NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)

SNV
Germline

Chr9:36223478

Pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA274118

rs_786204558

5 SubmittersRCV000169277 RCV002492689

NM_005476.7(GNE):c.829C>T (p.Arg277Cys)

SNV
Germline

Chr9:36234073

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided
Sialuria
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA274033

rs_762106720

9 SubmittersRCV000169197 RCV000726859 RCV001041020 RCV005400429

NM_005476.7(GNE):c.612G>A (p.Trp204Ter)

SNV
Germline

Chr9:36246035

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273969

rs_786204476

4 SubmittersRCV000778885 RCV005042349 RCV005222793

NM_005476.7(GNE):c.386G>A (p.Arg129Gln)

SNV
Germline

Chr9:36246261

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA274432

rs_748704459

4 SubmittersRCV000169582 RCV001390245 RCV005042360

NM_005476.7(GNE):c.2086G>T (p.Val696Leu)

SNV
Germline

Chr9:36217448

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
Condition: not provided
Inclusion Body Myopathy, Recessive
Sialuria
GNE myopathy
GNE-related disorder

Criteria Provided
Conflicting Classifications

CA239806

rs_121908627

13 SubmittersRCV000277092 RCV000315879 RCV000430334 RCV000372863 RCV000545813 RCV003416070

NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)

SNV
Germline

Chr9:36249370

Conflicting classifications of pathogenicity

GNE myopathy
Condition: not provided
Sialuria
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA241583

rs_794727279

5 SubmittersRCV000383627 RCV000598080 RCV001167866 RCV001060421

NM_005476.7(GNE):c.466T>C (p.Tyr156His)

SNV
Germline

Chr9:36246181

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Thrombocytopenia
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA243356

rs_794727505

4 SubmittersRCV000177229 RCV000667198 RCV000852136 RCV001296886

NM_005476.7(GNE):c.736C>T (p.Arg246Trp)

SNV
Germline

Chr9:36236865

Pathogenic/Likely pathogenic

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA275247

rs_773729410

11 SubmittersRCV000178150 RCV000700059 RCV000984181 RCV005042386

NM_005476.7(GNE):c.647T>C (p.Val216Ala)

SNV
Germline

Chr9:36236954

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided
GNE myopathy
Sialuria
GNE myopathy
Thrombocytopenia 12 with or without myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA277854

rs_779694939

11 SubmittersRCV000202427 RCV000255797 RCV000627756 RCV005003557

NM_005476.7(GNE):c.1003C>T (p.Arg335Trp)

SNV
Germline

Chr9:36229088

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy
Thrombocytopenia 12 with or without myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056603

rs_150132839

5 SubmittersRCV000344814 RCV001208464 RCV001833307 RCV005044524

NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)

SNV
Germline

Chr9:36218201

Pathogenic/Likely pathogenic

Condition: not provided
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603921

rs_886042195

3 SubmittersRCV000277200 RCV002518824

NM_005476.7(GNE):c.1412-5C>T

SNV
Germline

Chr9:36223003

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056485

rs_369078814

4 SubmittersRCV000362710 RCV001082674 RCV001273953

NM_005476.7(GNE):c.1242T>C (p.Leu414=)

SNV
Germline

Chr9:36227287

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056554

rs_371881711

4 SubmittersRCV000327429 RCV001273955 RCV001086205

NM_005476.7(GNE):c.1281+6A>T

SNV
Germline

Chr9:36227242

Conflicting classifications of pathogenicity

Inclusion Body Myopathy, Recessive
GNE myopathy
Sialuria
GNE myopathy
Sialuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5056544

rs_201025841

5 SubmittersRCV000302070 RCV000262109 RCV000554359 RCV000356902 RCV000725111

NM_005476.7(GNE):c.165-9C>T

SNV
Germline

Chr9:36246491

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy
Sialuria
GNE-related disorder

Criteria Provided
Conflicting Classifications

CA5056754

rs_760509369

5 SubmittersRCV000725157 RCV001087030 RCV001167865 RCV001167864 RCV003909939

NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)

SNV
Germline

Chr9:36219847

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056424

rs_372732220

7 SubmittersRCV000296082 RCV001247004 RCV000664508

NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)

SNV
Germline

Chr9:36227397

Pathogenic

Condition: not provided
GNE myopathy
GNE myopathy
Sialuria
Inborn genetic diseases
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA5056560

rs_199877522

13 SubmittersRCV000484722 RCV000596066 RCV000707707 RCV004021128 RCV005044529

NM_005476.7(GNE):c.843C>T (p.His281=)

SNV
Germline

Chr9:36234059

Conflicting classifications of pathogenicity

not specified
Condition: not provided
GNE myopathy
Sialuria
GNE myopathy
GNE-related disorder

Criteria Provided
Conflicting Classifications

CA5056647

rs_138694766

6 SubmittersRCV000366745 RCV000725360 RCV001080886 RCV001273957 RCV003920068

NM_005476.7(GNE):c.1908G>A (p.Ala636=)

SNV
Germline

Chr9:36218208

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Sialuria
GNE myopathy
GNE myopathy
Sialuria
GNE-related disorder

Criteria Provided
Conflicting Classifications

CA5056395

rs_200812140

6 SubmittersRCV000283228 RCV000725454 RCV001167215 RCV001167216 RCV001078869 RCV003939992

NM_005476.7(GNE):c.1267A>G (p.Ile423Val)

SNV
Germline

Chr9:36227262

Conflicting classifications of pathogenicity

Sialuria
Condition: not provided
GNE myopathy
Inclusion Body Myopathy, Recessive
GNE-related disorder
Sialuria
GNE myopathy
not specified

Criteria Provided
Conflicting Classifications

CA5056548

rs_35638832

9 SubmittersRCV000277347 RCV000343980 RCV000353363 RCV000298514 RCV003977768 RCV000533442 RCV003387823

NM_005476.7(GNE):c.2004C>T (p.Ser668=)

SNV
Germline

Chr9:36217530

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy
not specified

Criteria Provided
Conflicting Classifications

CA5056374

rs_150045137

5 SubmittersRCV000275261 RCV001082469 RCV001273948 RCV004526657

NM_005476.7(GNE):c.804G>A (p.Lys268=)

SNV
Germline

Chr9:36234098

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
GNE myopathy
Condition: not provided
GNE-related disorder

Criteria Provided
Conflicting Classifications

CA5056653

rs_141814943

6 SubmittersRCV001274364 RCV001089224 RCV000725714 RCV003967746

NM_005476.7(GNE):c.175C>T (p.Arg59Ter)

SNV
Germline

Chr9:36246472

Pathogenic

GNE myopathy
GNE myopathy
Sialuria
Condition: not provided
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA5056751

rs_745517517

7 SubmittersRCV000593290 RCV001034690 RCV000725751 RCV005044535

NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)

SNV
Germline

Chr9:36219856

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA10605332

rs_387906347

7 SubmittersRCV000494055 RCV000675176 RCV001385137

NM_005476.7(GNE):c.1634-7G>A

SNV
Germline

Chr9:36220027

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA5056446

rs_139442869

2 SubmittersRCV000310032 RCV001079871

NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)

SNV
Germline

Chr9:36218272

Pathogenic

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA5056405

rs_757523840

8 SubmittersRCV000270327 RCV000692448 RCV000984180 RCV001330333

NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)

SNV
Germline

Chr9:36219979

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
not specified
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056438

rs_762009737

5 SubmittersRCV000305422 RCV000672432 RCV002222477 RCV001004544

NM_005476.7(GNE):c.1509C>G (p.Pro503=)

SNV
Germline

Chr9:36222901

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056474

rs_141172610

5 SubmittersRCV000260873 RCV001273952 RCV001085046

NM_005476.7(GNE):c.297T>G (p.Leu99=)

SNV
Germline

Chr9:36246350

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA10606154

rs_544304534

2 SubmittersRCV000389313 RCV003765659

NM_005476.7(GNE):c.207C>T (p.Asn69=)

SNV
Germline

Chr9:36246440

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA5056747

rs_781586600

2 SubmittersRCV000299633 RCV001447859

NM_005476.7(GNE):c.1670T>C (p.Ile557Thr)

SNV
Germline

Chr9:36219984

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA10606187

rs_886043979

4 SubmittersRCV000282876 RCV001828255 RCV002521996

NM_005476.7(GNE):c.1070+7A>G

SNV
Germline

Chr9:36229014

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056588

rs_149675783

3 SubmittersRCV000311555 RCV001089333 RCV001273956

NM_005476.7(GNE):c.484C>T (p.Arg162Cys)

SNV
Germline

Chr9:36246163

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA5056722

rs_769215411

7 SubmittersRCV000597478 RCV000594398 RCV001214147 RCV005044550

NM_005476.7(GNE):c.1234G>A (p.Val412Ile)

SNV
Germline

Chr9:36227295

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056555

rs_369714039

6 SubmittersRCV000366622 RCV000688282 RCV001165684 RCV001165683

NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)

SNV
Germline

Chr9:36217529

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
GNE myopathy
Condition: not provided
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056373

rs_776384541

8 SubmittersRCV000535604 RCV001274362 RCV000593273 RCV005044551

NM_005476.7(GNE):c.1302T>C (p.Tyr434=)

SNV
Germline

Chr9:36223482

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10606834

rs_886044498

2 SubmittersRCV001436434 RCV000399281

NM_005476.7(GNE):c.4G>T (p.Glu2Ter)

SNV
Germline

Chr9:36249352

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA10606854

rs_886044514

6 SubmittersRCV000596007 RCV000790761 RCV001386743

NM_005476.7(GNE):c.211A>T (p.Arg71Trp)

SNV
Germline

Chr9:36246436

Conflicting classifications of pathogenicity

GNE myopathy
Condition: not provided
not specified
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA10606885

rs_886044539

7 SubmittersRCV000400388 RCV000657912 RCV003323497 RCV000534256

NM_005476.7(GNE):c.*1728C>T

SNV
Germline

Chr9:36215637

Conflicting classifications of pathogenicity

Inclusion Body Myopathy, Recessive
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA10627315

rs_41277097

1 SubmittersRCV000290069 RCV000343565 RCV000397769

NM_005476.7(GNE):c.769+4A>G

SNV
Germline

Chr9:36236828

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA10627319

rs_886063926

2 SubmittersRCV000386564 RCV003766110

NM_005476.7(GNE):c.315T>C (p.Asp105=)

SNV
Germline

Chr9:36246332

Conflicting classifications of pathogenicity

Sialuria
Inclusion Body Myopathy, Recessive
GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA10630085

rs_886063927

2 SubmittersRCV000284753 RCV000288779 RCV000379752 RCV002524601

NM_005476.7(GNE):c.-152G>T

SNV
Germline

Chr9:36258430

Conflicting classifications of pathogenicity

Inclusion Body Myopathy, Recessive
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA10630099

rs_142004500

1 SubmittersRCV000315147 RCV000336120 RCV000394490

NM_005476.7(GNE):c.*2415T>A

SNV
Germline

Chr9:36214950

Conflicting classifications of pathogenicity

Sialuria
Inclusion Body Myopathy, Recessive
GNE myopathy

Criteria Provided
Conflicting Classifications

CA10633981

rs_143569888

1 SubmittersRCV000272475 RCV000327686 RCV000368304

NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)

SNV
Germline

Chr9:36222887

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041312

rs_1057516798

3 SubmittersRCV000411466 RCV001861380 RCV003480623

NM_005476.7(GNE):c.1262T>C (p.Val421Ala)

SNV
Germline

Chr9:36227267

Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16041316

rs_1057516364

3 SubmittersRCV000410389 RCV003766120

NM_005476.7(GNE):c.916C>T (p.Arg306Ter)

SNV
Germline

Chr9:36233986

Pathogenic

GNE myopathy
Sialuria
GNE myopathy
Condition: not provided
Sialuria
GNE myopathy
Thrombocytopenia 12 with or without myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16041318

rs_1057516374

6 SubmittersRCV000409849 RCV001390114 RCV001782866 RCV005004141

NM_005476.7(GNE):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr9:36234046

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy
Sialuria
GNE myopathy
Thrombocytopenia 12 with or without myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16041319

rs_1057516746

3 SubmittersRCV000409391 RCV001861376 RCV005044610

NM_005476.7(GNE):c.655C>T (p.Gln219Ter)

SNV
Germline

Chr9:36236946

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16041320

rs_1057516906

4 SubmittersRCV000412423 RCV003144245 RCV003766130

NM_005476.7(GNE):c.385C>T (p.Arg129Ter)

SNV
Germline

Chr9:36246262

Pathogenic

Sialuria
GNE myopathy
GNE myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5056732

rs_372872777

6 SubmittersRCV001388253 RCV000411076 RCV001782873

NM_005476.7(GNE):c.1571C>T (p.Ala524Val)

SNV
Germline

Chr9:36222839

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy
Condition: not provided
Sialuria
GNE myopathy
Thrombocytopenia 12 with or without myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA5056466

rs_764698870

9 SubmittersRCV000487445 RCV000763619 RCV003139687 RCV005044732

NM_005476.7(GNE):c.79C>T (p.Pro27Ser)

SNV
Germline

Chr9:36249277

Pathogenic

Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Single Submitter

CA373421897

rs_1554664064

2 SubmittersRCV000532348 RCV001834779

NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter)

SNV
Germline

Chr9:36219884

Pathogenic

Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA373425565

rs_111302956

2 SubmittersRCV000579073 RCV002526936

NM_005476.7(GNE):c.38G>C (p.Cys13Ser)

SNV
Germline

Chr9:36249318

Pathogenic

Condition: not provided
GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA373422109

rs_1209266607

7 SubmittersRCV000594728 RCV000755013 RCV001853994

NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)

SNV
Germline

Chr9:36222827

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA192843496

rs_986773986

4 SubmittersRCV000596934 RCV000671522 RCV001378882

NM_005476.7(GNE):c.616G>A (p.Gly206Ser)

SNV
Germline

Chr9:36246031

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056701

rs_766266918

3 SubmittersRCV000593554 RCV001379220 RCV004568311

NM_005476.7(GNE):c.961C>T (p.Arg321Cys)

SNV
Germline

Chr9:36233941

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy

Criteria Provided
Conflicting Classifications

CA373430492

rs_1554661030

3 SubmittersRCV000597115 RCV003465336

NM_005476.7(GNE):c.893T>C (p.Ile298Thr)

SNV
Germline

Chr9:36234009

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA5056641

rs_757091387

7 SubmittersRCV000597462 RCV000726827 RCV002476292

NM_005476.7(GNE):c.917G>A (p.Arg306Gln)

SNV
Germline

Chr9:36233985

Likely pathogenic

Condition: not provided
GNE myopathy
Thrombocytopenia 12 with or without myopathy
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA373430587

rs_1455785164

3 SubmittersRCV000592708 RCV004586813 RCV005044883

NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)

SNV
Germline

Chr9:36219883

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA5056429

rs_752286512

5 SubmittersRCV000595256 RCV003465337 RCV003767363

NM_005476.7(GNE):c.2003C>T (p.Ser668Phe)

SNV
Germline

Chr9:36217531

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA373424635

rs_1258671706

3 SubmittersRCV000593521 RCV001854024 RCV003459467

NM_005476.7(GNE):c.617-2A>G

SNV
Germline

Chr9:36236986

Pathogenic/Likely pathogenic

Condition: not provided
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA373415630

rs_1554661582

2 SubmittersRCV000596372 RCV003465342

NM_005476.7(GNE):c.1907C>T (p.Ala636Val)

SNV
Germline

Chr9:36218209

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5056396

rs_756488394

6 SubmittersRCV000595393 RCV000702554 RCV001834889 RCV003352934

NM_005476.7(GNE):c.1674C>T (p.His558=)

SNV
Germline

Chr9:36219980

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA192841412

rs_144931111

2 SubmittersRCV000592892 RCV001430991

NM_005476.7(GNE):c.1412-4G>A

SNV
Germline

Chr9:36223002

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy
not specified
Sialuria

Criteria Provided
Conflicting Classifications

CA5056484

rs_146067766

7 SubmittersRCV000593407 RCV001169667 RCV001245184 RCV001553584 RCV001169666

NM_005476.7(GNE):c.1020A>G (p.Gln340=)

SNV
Germline

Chr9:36229071

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056598

rs_747807631

2 SubmittersRCV000593372 RCV001089318

NM_005476.7(GNE):c.1620T>C (p.Leu540=)

SNV
Germline

Chr9:36222790

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056461

rs_774849278

2 SubmittersRCV000593462 RCV002065175

NM_005476.7(GNE):c.1638C>T (p.Ile546=)

SNV
Germline

Chr9:36220016

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056444

rs_147768211

2 SubmittersRCV000591186 RCV001483350

NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)

SNV
Germline

Chr9:36222998

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy

Criteria Provided
Conflicting Classifications

CA373427005

rs_1439999698

3 SubmittersRCV000594077 RCV003319384

NM_005476.7(GNE):c.1293T>A (p.Val431=)

SNV
Germline

Chr9:36223491

Conflicting classifications of pathogenicity

not specified
Sialuria
GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA5056506

rs_143485388

3 SubmittersRCV000611020 RCV000871791 RCV001169669 RCV001169668

NM_005476.7(GNE):c.2097G>A (p.Ser699=)

SNV
Germline

Chr9:36217437

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
GNE myopathy
GNE-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5056349

rs_200490682

4 SubmittersRCV000635386 RCV001829785 RCV004748874 RCV004691980

NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)

SNV
Germline

Chr9:36222854

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA373426330

rs_1554658910

4 SubmittersRCV000672708 RCV003140071 RCV005046900

NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)

SNV
Unknown

Chr9:36222925

Pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373426660

rs_1212623980

2 SubmittersRCV000669224

NM_005476.7(GNE):c.1057A>G (p.Lys353Glu)

SNV
Germline

Chr9:36229034

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373429912

rs_1554660090

2 SubmittersRCV000668924

NM_005476.7(GNE):c.722T>G (p.Ile241Ser)

SNV
Germline

Chr9:36236879

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
GNE myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5056674

rs_759945787

4 SubmittersRCV000667485 RCV001390785 RCV000733198

NM_005476.7(GNE):c.301C>T (p.Arg101Cys)

SNV
Germline

Chr9:36246346

Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA5056739

rs_148523065

3 SubmittersRCV000670623 RCV001868246

NM_005476.7(GNE):c.31C>T (p.Arg11Trp)

SNV
Germline

Chr9:36249325

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA5056777

rs_769716748

5 SubmittersRCV000665671 RCV001784233 RCV002530662

NM_005476.7(GNE):c.2122G>A (p.Gly708Ser)

SNV
Unknown

Chr9:36217412

Likely pathogenic

GNE myopathy

No Assertion Criteria Provided

CA373424260

rs_1554657922

1 SubmittersRCV000668880

NM_005476.7(GNE):c.1525C>T (p.His509Tyr)

SNV
Germline

Chr9:36222885

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA5056471

rs_754892377

3 SubmittersRCV000669521 RCV001861778

NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)

SNV
Germline

Chr9:36227271

Pathogenic

GNE myopathy
Sialuria
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5056550

rs_747199032

5 SubmittersRCV000667517 RCV001220120 RCV005046870 RCV001592847

NM_005476.7(GNE):c.572C>G (p.Ser191Ter)

SNV
Unknown

Chr9:36246075

Likely pathogenic

GNE myopathy

No Assertion Criteria Provided

CA373418085

rs_1357906793

1 SubmittersRCV000666017

NM_005476.7(GNE):c.910G>A (p.Gly304Arg)

SNV
Unknown

Chr9:36233992

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA5056638

rs_755743750

2 SubmittersRCV000670521

NM_005476.7(GNE):c.598A>T (p.Ile200Phe)

SNV
Germline

Chr9:36246049

Conflicting classifications of pathogenicity

GNE myopathy
not specified
Sialuria
GNE myopathy
Condition: not provided
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056708

rs_369328625

7 SubmittersRCV000674921 RCV003117482 RCV001318626 RCV001784298 RCV005004355

NM_005476.7(GNE):c.529C>T (p.Arg177Cys)

SNV
Germline

Chr9:36246118

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA5056716

rs_539332585

5 SubmittersRCV000668839 RCV003767968

NM_005476.7(GNE):c.80C>T (p.Pro27Leu)

SNV
Germline

Chr9:36249276

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA373421895

rs_1236647498

6 SubmittersRCV000666276 RCV001214257 RCV003140061

NM_005476.7(GNE):c.22C>T (p.Arg8Ter)

SNV
Germline

Chr9:36249334

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA5056780

rs_766420673

4 SubmittersRCV000668355 RCV002530742

NM_001128227.3(GNE):c.88C>T (p.Gln30Ter)

SNV
Germline

Chr9:36249361

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA373422305

rs_1554664090

3 SubmittersRCV000671495 RCV001855561

NM_005476.7(GNE):c.1475T>A (p.Ile492Asn)

SNV
Germline

Chr9:36222935

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA373426721

rs_1563930321

2 SubmittersRCV000706645 RCV002285170

NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)

SNV
Germline

Chr9:36276927

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
Sialuria
GNE myopathy
Thrombocytopenia 12 with or without myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056831

rs_200763627

8 SubmittersRCV000733643 RCV000763620 RCV005400463 RCV004796290

NM_005476.7(GNE):c.1933+8T>C

SNV
Germline

Chr9:36218175

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056391

rs_768321445

2 SubmittersRCV000732242 RCV001501047

NM_001128227.3(GNE):c.15T>C (p.Gly5=)

SNV
Germline

Chr9:36276930

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056834

rs_192260997

2 SubmittersRCV000732423 RCV001465727

NM_005476.7(GNE):c.32G>A (p.Arg11Gln)

SNV
Germline

Chr9:36249324

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
Sialuria
GNE myopathy
Thrombocytopenia 12 with or without myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA373422137

rs_1401082365

4 SubmittersRCV000732542 RCV001050314 RCV005046997 RCV004579561

NM_005476.7(GNE):c.1572G>A (p.Ala524=)

SNV
Germline

Chr9:36222838

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056465

rs_112824871

3 SubmittersRCV000733062 RCV001059873 RCV001273951

NM_005476.7(GNE):c.2070C>T (p.Ser690=)

SNV
Germline

Chr9:36217464

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA5056356

rs_776582567

2 SubmittersRCV000733195 RCV001089443

NM_005476.7(GNE):c.726A>G (p.Ser242=)

SNV
Germline

Chr9:36236875

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA5056671

rs_763368889

2 SubmittersRCV000734318 RCV001429093

NM_005476.7(GNE):c.1531C>T (p.Pro511Ser)

SNV
Germline

Chr9:36222879

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA192843515

rs_966918577

3 SubmittersRCV000734973 RCV001385021 RCV005049677

NM_005476.7(GNE):c.2079C>T (p.Asp693=)

SNV
Germline

Chr9:36217455

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA5056353

rs_548244588

3 SubmittersRCV000735138 RCV001167213 RCV001167214 RCV001493584

NM_005476.7(GNE):c.445G>T (p.Ala149Ser)

SNV
Germline

Chr9:36246202

Likely pathogenic

GNE myopathy

No Assertion Criteria Provided

CA373418649

rs_1563946658

1 SubmittersRCV000786067

NM_005476.7(GNE):c.2096C>T (p.Ser699Leu)

SNV
Germline

Chr9:36217438

Conflicting classifications of pathogenicity

Sialuria
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056350

rs_552758282

2 SubmittersRCV001165629 RCV001856164

NM_005476.7(GNE):c.1767A>G (p.Ala589=)

SNV
Germline

Chr9:36219887

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056430

rs_777310871

3 SubmittersRCV001066169 RCV001167795 RCV001167794

NM_005476.7(GNE):c.1660C>T (p.His554Tyr)

SNV
Germline

Chr9:36219994

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5056442

rs_766818430

2 SubmittersRCV003086902 RCV003269456

NM_005476.7(GNE):c.617-1G>A

SNV
Germline

Chr9:36236985

Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA373415625

rs_1256419231

2 SubmittersRCV001378205 RCV003462956

NM_005476.7(GNE):c.1251G>A (p.Thr417=)

SNV
Germline

Chr9:36227278

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
Sialuria
GNE myopathy
GNE-related disorder

Criteria Provided
Conflicting Classifications

CA5056552

rs_758086020

5 SubmittersRCV000841722 RCV001165682 RCV001165681 RCV001465340 RCV003892768

NM_005476.7(GNE):c.2023T>C (p.Tyr675His)

SNV
Germline

Chr9:36217511

Pathogenic/Likely pathogenic

Sialuria
GNE myopathy
GNE myopathy
Condition: not provided
Thrombocytopenia 12 with or without myopathy
Sialuria
GNE myopathy
Myopathy, autophagic vacuolar, infantile-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA373424589

rs_1191857860

7 SubmittersRCV001067578 RCV002509608 RCV003142021 RCV005049758 RCV004587035

NM_005476.7(GNE):c.5A>G (p.Glu2Gly)

SNV
Germline

Chr9:36249351

Pathogenic/Likely pathogenic

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA373422267

rs_1830025657

4 SubmittersRCV001092264 RCV001390115 RCV003469287

NM_005476.7(GNE):c.*1660A>G

SNV
Germline

Chr9:36215705

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA192837537

rs_185870650

1 SubmittersRCV001167084 RCV001167085

NM_005476.7(GNE):c.1482G>A (p.Glu494=)

SNV
Germline

Chr9:36222928

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
GNE myopathy
Sialuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA464495243

rs_1485580233

3 SubmittersRCV001169665 RCV001167798 RCV002559605 RCV004570328

NM_005476.7(GNE):c.753T>C (p.Phe251=)

SNV
Germline

Chr9:36236848

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA192820810

rs_370479900

2 SubmittersRCV001167277 RCV001167276 RCV002068025

NM_005476.7(GNE):c.530G>A (p.Arg177His)

SNV
Germline

Chr9:36246117

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056715

rs_772597073

2 SubmittersRCV001167279 RCV001167278 RCV005213478

NM_005476.7(GNE):c.1281+13C>A

SNV
Germline

Chr9:36227235

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA1139660953

rs_1022557448

2 SubmittersRCV001169670 RCV001169671 RCV005225253

NM_005476.7(GNE):c.1468A>T (p.Lys490Ter)

SNV
Germline

Chr9:36222942

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA373426751

rs_1554658955

1 SubmittersRCV001227701

NM_005476.7(GNE):c.787C>T (p.Arg263Ter)

SNV
Germline

Chr9:36234115

Pathogenic

Sialuria
GNE myopathy
GNE myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5056654

rs_200643106

3 SubmittersRCV001241482 RCV001835105 RCV003142209

NM_005476.7(GNE):c.1294A>T (p.Lys432Ter)

SNV
Unknown

Chr9:36223490

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373428010

rs_1828703342

1 SubmittersRCV001264347

NM_005476.7(GNE):c.1229T>A (p.Leu410Ter)

SNV
Unknown

Chr9:36227300

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373428694

rs_1828914261

1 SubmittersRCV001264348

NM_005476.7(GNE):c.1153A>T (p.Lys385Ter)

SNV
Unknown

Chr9:36227376

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373428923

rs_1828921198

1 SubmittersRCV001264349

NM_005476.7(GNE):c.1075A>T (p.Lys359Ter)

SNV
Unknown

Chr9:36227454

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373429240

rs_1828929851

1 SubmittersRCV001263568

NM_005476.7(GNE):c.1033C>T (p.Gln345Ter)

SNV
Unknown

Chr9:36229058

Likely pathogenic

GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA373429993

rs_1829027066

2 SubmittersRCV001263569

NM_005476.7(GNE):c.955G>T (p.Gly319Ter)

SNV
Unknown

Chr9:36233947

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373430506

rs_1829284405

1 SubmittersRCV001263570

NM_005476.7(GNE):c.811G>T (p.Glu271Ter)

SNV
Unknown

Chr9:36234091

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373430824

rs_1829294478

1 SubmittersRCV001263571

NM_005476.7(GNE):c.1816+5G>A

SNV
Germline

Chr9:36219833

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA2499219906

rs_2133005844

1 SubmittersRCV001385136

NM_005476.7(GNE):c.1200T>C (p.Ile400=)

SNV
Germline

Chr9:36227329

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA464495620

rs_1173945551

2 SubmittersRCV001397541 RCV004809582

NM_005476.7(GNE):c.302G>A (p.Arg101His)

SNV
Germline

Chr9:36246345

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056738

rs_144727134

5 SubmittersRCV001756633 RCV001882823 RCV003314014

NM_005476.7(GNE):c.1132G>C (p.Asp378His)

SNV
Germline

Chr9:36227397

Likely pathogenic

GNE myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA373428995

rs_199877522

2 SubmittersRCV004699471 RCV001782212

NM_005476.7(GNE):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr9:36229043

Pathogenic

GNE myopathy
Sialuria

Criteria Provided
Single Submitter

CA373429943

rs_1276168825

1 SubmittersRCV001960552

NM_005476.7(GNE):c.1018C>T (p.Gln340Ter)

SNV
Germline

Chr9:36229073

Pathogenic/Likely pathogenic

Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA192848659

rs_983424324

2 SubmittersRCV001878074 RCV003464209

NM_005476.7(GNE):c.1789C>T (p.Gln597Ter)

SNV
Germline

Chr9:36219865

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA373425523

rs_2133006228

1 SubmittersRCV001889822

NM_005476.7(GNE):c.794T>C (p.Met265Thr)

SNV
Germline

Chr9:36234108

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
not specified
GNE myopathy

Criteria Provided
Conflicting Classifications

CA373430863

rs_2133068813

3 SubmittersRCV001976550 RCV002266079 RCV005095496

NM_005476.7(GNE):c.982+2T>A

SNV
Germline

Chr9:36233918

Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA373430438

rs_2133067872

2 SubmittersRCV002043361 RCV004571976

NM_005476.7(GNE):c.425T>C (p.Ile142Thr)

SNV
Germline

Chr9:36246222

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
Thrombocytopenia 12 with or without myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA373418750

rs_1829868500

2 SubmittersRCV001915614 RCV005042497

NM_005476.7(GNE):c.1071-4G>T

SNV
Germline

Chr9:36227462

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA1846342569

rs_567349676

2 SubmittersRCV002224908 RCV003089190

NM_005476.7(GNE):c.448A>G (p.Ile150Val)

SNV
Germline

Chr9:36246199

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373418640

rs_758814313

1 SubmittersRCV002251107

NM_005476.7(GNE):c.1031T>A (p.Leu344Ter)

SNV
Unknown

Chr9:36229060

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373430003

rs_2489680991

1 SubmittersRCV002308151

NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)

SNV
Unknown

Chr9:36219867

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373425529

rs_112061124

1 SubmittersRCV002310387

NM_005476.7(GNE):c.622G>A (p.Asp208Asn)

SNV
Germline

Chr9:36236979

Likely pathogenic

GNE myopathy
Sialuria

Criteria Provided
Single Submitter

CA373415594

rs_2489735126

1 SubmittersRCV003062212

NM_005476.7(GNE):c.556T>C (p.Tyr186His)

SNV
Germline

Chr9:36246091

Pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA373418165

rs_2489786253

2 SubmittersRCV003062213 RCV004700910

NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)

SNV
Germline

Chr9:36222871

Pathogenic

Sialuria
GNE myopathy
Condition: not provided
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA373426403

rs_1563930168

3 SubmittersRCV002637481 RCV003140129 RCV003459764

NM_001128227.3(GNE):c.22C>T (p.Gln8Ter)

SNV
Germline

Chr9:36276923

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA373429444

rs_2489933518

1 SubmittersRCV003043319

NM_005476.7(GNE):c.557A>G (p.Tyr186Cys)

SNV
Germline

Chr9:36246090

Likely pathogenic

Condition: not provided
GNE myopathy
Thrombocytopenia 12 with or without myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA5056713

rs_747496165

2 SubmittersRCV003145889 RCV005047436

NM_005476.7(GNE):c.878A>G (p.His293Arg)

SNV
Germline

Chr9:36234024

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373430672

rs_2489716585

1 SubmittersRCV003337935

NM_005476.7(GNE):c.1885C>T (p.Gln629Ter)

SNV
Unknown

Chr9:36218231

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373425060

rs_2489591319

1 SubmittersRCV003468281

NM_005476.7(GNE):c.827T>G (p.Phe276Cys)

SNV
Germline

Chr9:36234075

Pathogenic/Likely pathogenic

GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA373430786

rs_2489717397

2 SubmittersRCV003468283

NM_005476.7(GNE):c.865C>T (p.Gln289Ter)

SNV
Germline

Chr9:36234037

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA5056645

rs_775446242

1 SubmittersRCV003781312

NM_005476.7(GNE):c.1071-2A>C

SNV
Germline

Chr9:36227460

Likely pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA373429272

rs_1828930645

1 SubmittersRCV003798307

NM_005476.7(GNE):c.1817-2A>G

SNV
Germline

Chr9:36218301

Likely pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA373425304

rs_2489592662

1 SubmittersRCV003792517

NM_005476.7(GNE):c.869T>A (p.Leu290Ter)

SNV
Germline

Chr9:36234033

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA373430693

rs_2489716716

1 SubmittersRCV003803776

NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)

SNV
Germline

Chr9:36217509

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA373424581

rs_1479027996

1 SubmittersRCV003809157

NM_005476.7(GNE):c.1411+1G>C

SNV
Germline

Chr9:36223372

Likely pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA373427061

rs_1828696455

1 SubmittersRCV003800524

NM_001128227.3(GNE):c.51+2T>A

SNV
Germline

Chr9:36276892

Likely pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

CA373429356

rs_2489933374

1 SubmittersRCV003812375

NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr9:36229031

Pathogenic

GNE myopathy
Sialuria

Criteria Provided
Single Submitter

CA373429899

rs_1829025291

1 SubmittersRCV003805038

NM_005476.7(GNE):c.1933+1G>C

SNV
Germline

Chr9:36218182

Pathogenic

GNE myopathy
Sialuria

Criteria Provided
Single Submitter

CA373424897

rs_2489590578

1 SubmittersRCV003805086

NM_005476.7(GNE):c.503T>C (p.Leu168Pro)

SNV
Germline

Chr9:36246144

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

CA373418396

rs_2489786751

1 SubmittersRCV003989380

NM_005476.7(GNE):c.496C>T (p.Gln166Ter)

SNV
Unknown

Chr9:36246151

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

rs_2489786839

1 SubmittersRCV004576687

NM_005476.7(GNE):c.1888G>A (p.Ala630Thr)

SNV
Unknown

Chr9:36218228

Pathogenic

GNE myopathy

Criteria Provided
Single Submitter

rs_1382191649

1 SubmittersRCV004576690

NM_005476.7(GNE):c.2056C>T (p.Gln686Ter)

SNV
Unknown

Chr9:36217478

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

rs_758253709

1 SubmittersRCV004576694

NM_005476.7(GNE):c.1634-1G>T

SNV
Germline

Chr9:36220021

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004789704

NM_005476.7(GNE):c.1237G>T (p.Asp413Tyr)

SNV
Germline

Chr9:36227292

Likely pathogenic

Thrombocytopenia 12 with or without myopathy
GNE myopathy
Sialuria

Criteria Provided
Single Submitter

1 SubmittersRCV005048368

NM_001128227.3(GNE):c.51+1G>A

SNV
Germline

Chr9:36276893

Likely pathogenic

Thrombocytopenia 12 with or without myopathy
GNE myopathy
Sialuria

Criteria Provided
Single Submitter

1 SubmittersRCV005048371

NM_005476.7(GNE):c.1477C>T (p.Gln493Ter)

SNV
Germline

Chr9:36222933

Pathogenic

GNE myopathy
Sialuria

Criteria Provided
Single Submitter

1 SubmittersRCV005217510

NM_005476.7(GNE):c.616+1G>A

SNV
Germline

Chr9:36246030

Likely pathogenic

GNE myopathy
Sialuria

Criteria Provided
Single Submitter

1 SubmittersRCV005219741

NM_005476.7(GNE):c.1071-1G>A

SNV
Germline

Chr9:36227459

Likely pathogenic

GNE myopathy
Sialuria

Criteria Provided
Single Submitter

1 SubmittersRCV005219764

NM_005476.7(GNE):c.985G>T (p.Glu329Ter)

SNV
Germline

Chr9:36229106

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005214878

NM_005476.7(GNE):c.976G>T (p.Glu326Ter)

SNV
Germline

Chr9:36233926

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005216400

NM_005476.7(GNE):c.1741T>G (p.Cys581Gly)

SNV
Germline

Chr9:36219913

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005410201

NM_005476.7(GNE):c.1584T>A (p.Phe528Leu)

SNV
Germline

Chr9:36222826

Likely pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005410257

NM_005476.7(GNE):c.-42-1G>A

SNV
Unknown

Chr9:36249398

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005604907

NM_005476.7(GNE):c.769+870C>T

SNV
Germline

Chr9:36235962

Pathogenic

GNE myopathy

No Assertion Criteria Provided

1 SubmittersRCV005616156

NM_005476.7(GNE):c.1412-2A>G

SNV
Germline

Chr9:36223000

Likely pathogenic

GNE myopathy

No Assertion Criteria Provided

1 SubmittersRCV005616166

NM_005476.7(GNE):c.2111C>G (p.Pro704Arg)

SNV
Germline

Chr9:36217423

Likely pathogenic

GNE myopathy

No Assertion Criteria Provided

1 SubmittersRCV005616171

NM_005476.7(GNE):c.1090G>A (p.Gly364Arg)

SNV
Germline

Chr9:36227439

Likely pathogenic

GNE myopathy

No Assertion Criteria Provided

1 SubmittersRCV005616175

NM_005476.7(GNE):c.1688G>A (p.Cys563Tyr)

SNV
Germline

Chr9:36219966

Likely pathogenic

GNE myopathy

No Assertion Criteria Provided

1 SubmittersRCV005616176