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 Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA253679	rs_28937594	20 SubmittersRCV000006396 RCV000443895 RCV000763615 RCV001705582
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 GNE-related disorder	Criteria Provided Conflicting Classifications	CA253688	rs_121908627	24 SubmittersRCV000202424 RCV000255973 RCV000763616 RCV001167212 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 GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA253699	rs_121908629	13 SubmittersRCV000202425 RCV000725734 RCV001051696
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)	SNV Germline	Chr9:36236928	Conflicting classifications of pathogenicity	GNE myopathy Condition: not provided Sialuria GNE myopathy	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	Criteria Provided Multiple Submitters No Conflicts	CA274932	rs_121908632	8 SubmittersRCV000006404 RCV000724160 RCV001217981
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	SNV Germline	Chr9:36218224	Pathogenic	GNE myopathy Condition: not provided Sialuria GNE myopathy Thrombocytopenia 12 with or without myopathy Hereditary nonpolyposis colon cancer	Criteria Provided Multiple Submitters No Conflicts	CA253717	rs_62541771	18 SubmittersRCV000006406 RCV000254883 RCV000763617 RCV004566685 RCV004525844
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	GNE myopathy Condition: not provided GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA344238	rs_139425890	11 SubmittersRCV000343796 RCV000726858 RCV001060883
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	GNE myopathy Condition: not provided Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA274075	rs_748949603	12 SubmittersRCV000366480 RCV000591867 RCV000763618
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)	SNV Germline	Chr9:36223478	Pathogenic/Likely pathogenic	GNE myopathy GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA274118	rs_786204558	4 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	Criteria Provided Multiple Submitters No Conflicts	CA274033	rs_762106720	8 SubmittersRCV000169197 RCV000726859 RCV001041020
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)	SNV Germline	Chr9:36246035	Conflicting classifications of pathogenicity	GNE myopathy	Criteria Provided Conflicting Classifications	CA273969	rs_786204476	3 SubmittersRCV000778885
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)	SNV Germline	Chr9:36246261	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA274432	rs_748704459	2 SubmittersRCV000169582 RCV001390245
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)	SNV Germline	Chr9:36217448	Conflicting classifications of pathogenicity	GNE myopathy Sialuria Inclusion Body Myopathy, Recessive Sialuria GNE myopathy Condition: not provided GNE-related disorder	Criteria Provided Conflicting Classifications	CA239806	rs_121908627	12 SubmittersRCV000277092 RCV000315879 RCV000372863 RCV000545813 RCV000430334 RCV003416070
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)	SNV Germline	Chr9:36249370	Conflicting classifications of pathogenicity	GNE myopathy Condition: not provided Sialuria GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA241583	rs_794727279	5 SubmittersRCV000383627 RCV000598080 RCV001060421 RCV001167866
NM_005476.7(GNE):c.466T>C (p.Tyr156His)	SNV Germline	Chr9:36246181	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Thrombocytopenia GNE myopathy Sialuria	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 GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts	CA275247	rs_773729410	8 SubmittersRCV000178150 RCV000700059 RCV000984181
NM_005476.7(GNE):c.647T>C (p.Val216Ala)	SNV Germline	Chr9:36236954	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA277854	rs_779694939	11 SubmittersRCV000202427 RCV000255797 RCV000627756
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp)	SNV Germline	Chr9:36229088	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056603	rs_150132839	4 SubmittersRCV000344814 RCV001208464 RCV001833307
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)	SNV Germline	Chr9:36218201	Pathogenic/Likely pathogenic	Condition: not provided GNE myopathy Sialuria	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 Sialuria GNE myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA5056554	rs_371881711	4 SubmittersRCV000327429 RCV001086205 RCV001273955
NM_005476.7(GNE):c.1281+6A>T	SNV Germline	Chr9:36227242	Conflicting classifications of pathogenicity	GNE myopathy Inclusion Body Myopathy, Recessive Sialuria Sialuria GNE myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA5056544	rs_201025841	5 SubmittersRCV000262109 RCV000302070 RCV000356902 RCV000554359 RCV000725111
NM_005476.7(GNE):c.165-9C>T	SNV Germline	Chr9:36246491	Conflicting classifications of pathogenicity	Condition: not provided Sialuria Sialuria GNE myopathy GNE myopathy GNE-related disorder	Criteria Provided Conflicting Classifications	CA5056754	rs_760509369	5 SubmittersRCV000725157 RCV001167864 RCV001087030 RCV001167865 RCV003909939
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)	SNV Germline	Chr9:36219847	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA5056424	rs_372732220	6 SubmittersRCV000296082 RCV000664508 RCV001247004
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)	SNV Germline	Chr9:36227397	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy Sialuria Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5056560	rs_199877522	12 SubmittersRCV000484722 RCV000707707 RCV000596066 RCV001165685 RCV004021128
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	5 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 GNE myopathy Sialuria Sialuria GNE myopathy GNE-related disorder	Criteria Provided Conflicting Classifications	CA5056395	rs_200812140	6 SubmittersRCV000283228 RCV000725454 RCV001078869 RCV001167215 RCV001167216 RCV003939992
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)	SNV Germline	Chr9:36227262	Conflicting classifications of pathogenicity	Sialuria Inclusion Body Myopathy, Recessive Condition: not provided GNE myopathy GNE myopathy Sialuria GNE-related disorder not specified	Criteria Provided Conflicting Classifications	CA5056548	rs_35638832	9 SubmittersRCV000277347 RCV000298514 RCV000343980 RCV000353363 RCV000533442 RCV003977768 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	4 SubmittersRCV000275261 RCV001082469 RCV001273948 RCV004526657
NM_005476.7(GNE):c.804G>A (p.Lys268=)	SNV Germline	Chr9:36234098	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy GNE-related disorder	Criteria Provided Conflicting Classifications	CA5056653	rs_141814943	6 SubmittersRCV000725714 RCV001089224 RCV001274364 RCV003967746
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	SNV Germline	Chr9:36246472	Pathogenic	GNE myopathy GNE myopathy Sialuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5056751	rs_745517517	6 SubmittersRCV000593290 RCV001034690 RCV000725751
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 Sialuria GNE myopathy	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 GNE myopathy Sialuria not specified	Criteria Provided Conflicting Classifications	CA5056438	rs_762009737	5 SubmittersRCV000305422 RCV000672432 RCV001004544 RCV002222477
NM_005476.7(GNE):c.1509C>G (p.Pro503=)	SNV Germline	Chr9:36222901	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy GNE myopathy	Criteria Provided Conflicting Classifications	CA5056474	rs_141172610	4 SubmittersRCV000260873 RCV001085046 RCV001273952
NM_005476.7(GNE):c.297T>G (p.Leu99=)	SNV Germline	Chr9:36246350	Conflicting classifications of pathogenicity	Condition: not provided Sialuria GNE myopathy	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 Sialuria GNE myopathy	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 Sialuria GNE myopathy	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 Sialuria GNE myopathy 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	Criteria Provided Multiple Submitters No Conflicts	CA5056722	rs_769215411	6 SubmittersRCV000597478 RCV000594398 RCV001214147
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	Condition: not provided GNE myopathy Sialuria GNE myopathy not specified	Criteria Provided Conflicting Classifications	CA5056373	rs_776384541	6 SubmittersRCV000593273 RCV000535604 RCV001274362 RCV003114458
NM_005476.7(GNE):c.1302T>C (p.Tyr434=)	SNV Germline	Chr9:36223482	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA10606834	rs_886044498	2 SubmittersRCV000399281 RCV001436434
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	5 SubmittersRCV000596007 RCV000790761 RCV001386743
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)	SNV Germline	Chr9:36246436	Conflicting classifications of pathogenicity	GNE myopathy Sialuria GNE myopathy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10606885	rs_886044539	7 SubmittersRCV000400388 RCV000534256 RCV000657912 RCV003323497
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	GNE myopathy Sialuria GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA10627319	rs_886063926	2 SubmittersRCV000332020 RCV000386564 RCV003766110
NM_005476.7(GNE):c.315T>C (p.Asp105=)	SNV Germline	Chr9:36246332	Conflicting classifications of pathogenicity	Inclusion Body Myopathy, Recessive Sialuria GNE myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications	CA10630085	rs_886063927	2 SubmittersRCV000288779 RCV000284753 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 GNE myopathy Sialuria 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 GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA16041316	rs_1057516364	2 SubmittersRCV000410389 RCV003766120
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)	SNV Germline	Chr9:36233986	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041318	rs_1057516374	6 SubmittersRCV000409849 RCV001390114 RCV001782866
NM_005476.7(GNE):c.856C>T (p.Gln286Ter)	SNV Germline	Chr9:36234046	Pathogenic/Likely pathogenic	GNE myopathy GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts	CA16041319	rs_1057516746	2 SubmittersRCV000409391 RCV001861376
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/Likely pathogenic	GNE myopathy GNE myopathy Sialuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5056732	rs_372872777	6 SubmittersRCV000411076 RCV001388253 RCV001782873
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)	SNV Germline	Chr9:36222839	Pathogenic/Likely pathogenic	GNE myopathy GNE myopathy Sialuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5056466	rs_764698870	8 SubmittersRCV000487445 RCV000763619 RCV003139687
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 GNE myopathy Sialuria	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 GNE myopathy Sialuria 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	2 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.1771G>A (p.Ala591Thr)	SNV Germline	Chr9:36219883	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056429	rs_752286512	3 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 Sialuria GNE myopathy Sialuria GNE myopathy not specified	Criteria Provided Conflicting Classifications	CA5056484	rs_146067766	7 SubmittersRCV000593407 RCV001169666 RCV001169667 RCV001245184 RCV001553584
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 GNE myopathy Sialuria Sialuria GNE myopathy	Criteria Provided Conflicting Classifications	CA5056506	rs_143485388	3 SubmittersRCV000611020 RCV000871791 RCV001169668 RCV001169669
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)	SNV Germline	Chr9:36222854	Pathogenic/Likely pathogenic	GNE myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554658910	2 SubmittersRCV000672708 RCV003140071
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)	SNV Unknown	Chr9:36222925	Pathogenic/Likely pathogenic	GNE myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1212623980	2 SubmittersRCV000669224
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)	SNV Germline	Chr9:36236879	Conflicting classifications of pathogenicity	GNE myopathy Condition: not provided GNE myopathy Sialuria	Criteria Provided Conflicting Classifications		rs_759945787	3 SubmittersRCV000667485 RCV000733198 RCV001390785
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)	SNV Germline	Chr9:36246346	Conflicting classifications of pathogenicity	GNE myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications		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		rs_769716748	5 SubmittersRCV000665671 RCV001784233 RCV002530662
NM_005476.7(GNE):c.2122G>A (p.Gly708Ser)	SNV Unknown	Chr9:36217412	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter		rs_1554657922	1 SubmittersRCV000668880
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)	SNV Germline	Chr9:36222885	Pathogenic/Likely pathogenic	GNE myopathy GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts		rs_754892377	3 SubmittersRCV000669521 RCV001861778
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)	SNV Germline	Chr9:36227271	Pathogenic	GNE myopathy GNE myopathy Sialuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_747199032	3 SubmittersRCV000667517 RCV001220120 RCV001592847
NM_005476.7(GNE):c.572C>G (p.Ser191Ter)	SNV Unknown	Chr9:36246075	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter		rs_1357906793	1 SubmittersRCV000666017
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)	SNV Unknown	Chr9:36233992	Conflicting classifications of pathogenicity	GNE myopathy	Criteria Provided Conflicting Classifications		rs_755743750	2 SubmittersRCV000670521
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)	SNV Germline	Chr9:36246049	Conflicting classifications of pathogenicity	GNE myopathy GNE myopathy Sialuria Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_369328625	6 SubmittersRCV000674921 RCV001318626 RCV001784298 RCV003117482
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)	SNV Germline	Chr9:36246118	Pathogenic/Likely pathogenic	GNE myopathy GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts		rs_539332585	3 SubmittersRCV000668839 RCV003767968
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)	SNV Germline	Chr9:36249276	Pathogenic/Likely pathogenic	GNE myopathy GNE myopathy Sialuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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		rs_766420673	4 SubmittersRCV000668355 RCV002530742
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter)	SNV Germline	Chr9:36249361	Pathogenic/Likely pathogenic	GNE myopathy GNE myopathy Sialuria	Criteria Provided Multiple Submitters No Conflicts		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		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 not specified	Criteria Provided Conflicting Classifications		rs_200763627	5 SubmittersRCV000733643 RCV000763620 RCV002271574
NM_005476.7(GNE):c.1933+8T>C	SNV Germline	Chr9:36218175	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria	Criteria Provided Conflicting Classifications		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 GNE myopathy Sialuria	Criteria Provided Conflicting Classifications		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 Neuronal ceroid lipofuscinosis GNE myopathy Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications		rs_1401082365	3 SubmittersRCV000732542 RCV001050314 RCV004526764 RCV004579561 RCV004540067
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		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		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		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	Criteria Provided Conflicting Classifications		rs_966918577	2 SubmittersRCV000734973 RCV001385021
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		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		rs_1563946658	1 SubmittersRCV000786067
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu)	SNV Germline	Chr9:36217438	Conflicting classifications of pathogenicity	GNE myopathy Sialuria Sialuria GNE myopathy	Criteria Provided Conflicting Classifications		rs_552758282	2 SubmittersRCV000778884 RCV001165629 RCV001856164
NM_005476.7(GNE):c.1767A>G (p.Ala589=)	SNV Germline	Chr9:36219887	Conflicting classifications of pathogenicity	GNE myopathy Sialuria Sialuria GNE myopathy	Criteria Provided Conflicting Classifications		rs_777310871	3 SubmittersRCV001066169 RCV001167795 RCV001167794
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)	SNV Germline	Chr9:36219994	Conflicting classifications of pathogenicity	GNE myopathy Sialuria Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003086902 RCV003269456
NM_005476.7(GNE):c.617-1G>A	SNV Germline	Chr9:36236985	Likely pathogenic	Sialuria GNE myopathy GNE myopathy	Criteria Provided Multiple Submitters No Conflicts		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		rs_758086020	5 SubmittersRCV000841722 RCV001165682 RCV001165681 RCV001465340 RCV003892768
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)	SNV Germline	Chr9:36217511	Pathogenic	GNE myopathy Sialuria Condition: not provided GNE myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1191857860	5 SubmittersRCV001067578 RCV003142021 RCV002509608
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)	SNV Germline	Chr9:36249351	Pathogenic/Likely pathogenic	Condition: not provided Sialuria GNE myopathy GNE myopathy	Criteria Provided Multiple Submitters No Conflicts		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		rs_185870650	1 SubmittersRCV001167084 RCV001167085
NM_005476.7(GNE):c.1482G>A (p.Glu494=)	SNV Germline	Chr9:36222928	Conflicting classifications of pathogenicity	Sialuria GNE myopathy Sialuria GNE myopathy Condition: not provided	Criteria Provided Conflicting Classifications		rs_1485580233	3 SubmittersRCV001167798 RCV001169665 RCV002559605 RCV004570328
NM_005476.7(GNE):c.753T>C (p.Phe251=)	SNV Germline	Chr9:36236848	Conflicting classifications of pathogenicity	Sialuria GNE myopathy GNE myopathy Sialuria	Criteria Provided Conflicting Classifications		rs_370479900	2 SubmittersRCV001167277 RCV001167276 RCV002068025
NM_005476.7(GNE):c.530G>A (p.Arg177His)	SNV Germline	Chr9:36246117	Conflicting classifications of pathogenicity	Sialuria GNE myopathy	Criteria Provided Conflicting Classifications		rs_772597073	1 SubmittersRCV001167278 RCV001167279
NM_005476.7(GNE):c.1468A>T (p.Lys490Ter)	SNV Germline	Chr9:36222942	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter		rs_1554658955	1 SubmittersRCV001227701
NM_005476.7(GNE):c.787C>T (p.Arg263Ter)	SNV Germline	Chr9:36234115	Pathogenic	GNE myopathy Sialuria GNE myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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		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		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		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		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		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		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		rs_1829294478	1 SubmittersRCV001263571
NM_005476.7(GNE):c.1816+5G>A	SNV Germline	Chr9:36219833	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter		rs_2133005844	1 SubmittersRCV001385136
NM_005476.7(GNE):c.302G>A (p.Arg101His)	SNV Germline	Chr9:36246345	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria GNE myopathy	Criteria Provided Conflicting Classifications		rs_144727134	4 SubmittersRCV001756633 RCV001882823 RCV003314014
NM_005476.7(GNE):c.1048C>T (p.Gln350Ter)	SNV Germline	Chr9:36229043	Pathogenic	GNE myopathy Sialuria	Criteria Provided Single Submitter		rs_1276168825	1 SubmittersRCV001960552
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter)	SNV Germline	Chr9:36229073	Pathogenic/Likely pathogenic	GNE myopathy Sialuria GNE myopathy	Criteria Provided Multiple Submitters No Conflicts		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		rs_2133006228	1 SubmittersRCV001889822
NM_005476.7(GNE):c.982+2T>A	SNV Germline	Chr9:36233918	Likely pathogenic	Sialuria GNE myopathy GNE myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_2133067872	2 SubmittersRCV002043361 RCV004571976
NM_005476.7(GNE):c.1071-4G>T	SNV Germline	Chr9:36227462	Conflicting classifications of pathogenicity	Condition: not provided GNE myopathy Sialuria	Criteria Provided Conflicting Classifications		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		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			1 SubmittersRCV002308151
NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)	SNV Unknown	Chr9:36219867	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV002310387
NM_005476.7(GNE):c.622G>A (p.Asp208Asn)	SNV Germline	Chr9:36236979	Likely pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003062212
NM_005476.7(GNE):c.556T>C (p.Tyr186His)	SNV Germline	Chr9:36246091	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003062213
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			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			1 SubmittersRCV003043319
NM_005476.7(GNE):c.878A>G (p.His293Arg)	SNV Germline	Chr9:36234024	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003337935
NM_005476.7(GNE):c.1885C>T (p.Gln629Ter)	SNV Unknown	Chr9:36218231	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003468281
NM_005476.7(GNE):c.827T>G (p.Phe276Cys)	SNV Unknown	Chr9:36234075	Pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003468283
NM_005476.7(GNE):c.865C>T (p.Gln289Ter)	SNV Germline	Chr9:36234037	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003781312
NM_005476.7(GNE):c.1071-2A>C	SNV Germline	Chr9:36227460	Likely pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003798307
NM_005476.7(GNE):c.1817-2A>G	SNV Germline	Chr9:36218301	Likely pathogenic	GNE myopathy Sialuria	Criteria Provided Single Submitter			1 SubmittersRCV003792517
NM_005476.7(GNE):c.869T>A (p.Leu290Ter)	SNV Germline	Chr9:36234033	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003803776
NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)	SNV Germline	Chr9:36217509	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003809157
NM_005476.7(GNE):c.1411+1G>C	SNV Germline	Chr9:36223372	Likely pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003800524
NM_001128227.3(GNE):c.51+2T>A	SNV Germline	Chr9:36276892	Likely pathogenic	GNE myopathy Sialuria	Criteria Provided Single Submitter			1 SubmittersRCV003812375
NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr9:36229031	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003805038
NM_005476.7(GNE):c.1933+1G>C	SNV Germline	Chr9:36218182	Pathogenic	Sialuria GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003805086
NM_005476.7(GNE):c.503T>C (p.Leu168Pro)	SNV Germline	Chr9:36246144	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003989380
NM_005476.7(GNE):c.496C>T (p.Gln166Ter)	SNV Unknown	Chr9:36246151	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004576687
NM_005476.7(GNE):c.1888G>A (p.Ala630Thr)	SNV Unknown	Chr9:36218228	Pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004576690
NM_005476.7(GNE):c.2056C>T (p.Gln686Ter)	SNV Unknown	Chr9:36217478	Likely pathogenic	GNE myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004576694

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
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA253679

rs_28937594

20 SubmittersRCV000006396 RCV000443895 RCV000763615 RCV001705582

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
GNE-related disorder

Criteria Provided
Conflicting Classifications

CA253688

rs_121908627

24 SubmittersRCV000202424 RCV000255973 RCV000763616 RCV001167212 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
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA253699

rs_121908629

13 SubmittersRCV000202425 RCV000725734 RCV001051696

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

SNV
Germline

Chr9:36236928

Conflicting classifications of pathogenicity

GNE myopathy
Condition: not provided
Sialuria
GNE myopathy

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274932

rs_121908632

8 SubmittersRCV000006404 RCV000724160 RCV001217981

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

SNV
Germline

Chr9:36218224

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253717

rs_62541771

18 SubmittersRCV000006406 RCV000254883 RCV000763617 RCV004566685 RCV004525844

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

GNE myopathy
Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA344238

rs_139425890

11 SubmittersRCV000343796 RCV000726858 RCV001060883

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

GNE myopathy
Condition: not provided
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA274075

rs_748949603

12 SubmittersRCV000366480 RCV000591867 RCV000763618

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

SNV
Germline

Chr9:36223478

Pathogenic/Likely pathogenic

GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA274118

rs_786204558

4 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

Criteria Provided
Multiple Submitters
No Conflicts

CA274033

rs_762106720

8 SubmittersRCV000169197 RCV000726859 RCV001041020

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

SNV
Germline

Chr9:36246035

Conflicting classifications of pathogenicity

GNE myopathy

Criteria Provided
Conflicting Classifications

CA273969

rs_786204476

3 SubmittersRCV000778885

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

SNV
Germline

Chr9:36246261

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA274432

rs_748704459

2 SubmittersRCV000169582 RCV001390245

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

SNV
Germline

Chr9:36217448

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239806

rs_121908627

12 SubmittersRCV000277092 RCV000315879 RCV000372863 RCV000545813 RCV000430334 RCV003416070

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

SNV
Germline

Chr9:36249370

Conflicting classifications of pathogenicity

GNE myopathy
Condition: not provided
Sialuria
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA241583

rs_794727279

5 SubmittersRCV000383627 RCV000598080 RCV001060421 RCV001167866

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

SNV
Germline

Chr9:36246181

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Thrombocytopenia
GNE myopathy
Sialuria

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
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA275247

rs_773729410

8 SubmittersRCV000178150 RCV000700059 RCV000984181

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

SNV
Germline

Chr9:36236954

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA277854

rs_779694939

11 SubmittersRCV000202427 RCV000255797 RCV000627756

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

SNV
Germline

Chr9:36229088

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056603

rs_150132839

4 SubmittersRCV000344814 RCV001208464 RCV001833307

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

SNV
Germline

Chr9:36218201

Pathogenic/Likely pathogenic

Condition: not provided
GNE myopathy
Sialuria

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
Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056554

rs_371881711

4 SubmittersRCV000327429 RCV001086205 RCV001273955

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

SNV
Germline

Chr9:36227242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5056544

rs_201025841

5 SubmittersRCV000262109 RCV000302070 RCV000356902 RCV000554359 RCV000725111

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

SNV
Germline

Chr9:36246491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5056754

rs_760509369

5 SubmittersRCV000725157 RCV001167864 RCV001087030 RCV001167865 RCV003909939

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

SNV
Germline

Chr9:36219847

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA5056424

rs_372732220

6 SubmittersRCV000296082 RCV000664508 RCV001247004

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

SNV
Germline

Chr9:36227397

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5056560

rs_199877522

12 SubmittersRCV000484722 RCV000707707 RCV000596066 RCV001165685 RCV004021128

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

5 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
GNE myopathy
Sialuria
Sialuria
GNE myopathy
GNE-related disorder

Criteria Provided
Conflicting Classifications

CA5056395

rs_200812140

6 SubmittersRCV000283228 RCV000725454 RCV001078869 RCV001167215 RCV001167216 RCV003939992

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

SNV
Germline

Chr9:36227262

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5056548

rs_35638832

9 SubmittersRCV000277347 RCV000298514 RCV000343980 RCV000353363 RCV000533442 RCV003977768 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

4 SubmittersRCV000275261 RCV001082469 RCV001273948 RCV004526657

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

SNV
Germline

Chr9:36234098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5056653

rs_141814943

6 SubmittersRCV000725714 RCV001089224 RCV001274364 RCV003967746

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

SNV
Germline

Chr9:36246472

Pathogenic

GNE myopathy
GNE myopathy
Sialuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5056751

rs_745517517

6 SubmittersRCV000593290 RCV001034690 RCV000725751

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
Sialuria
GNE myopathy

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
GNE myopathy
Sialuria
not specified

Criteria Provided
Conflicting Classifications

CA5056438

rs_762009737

5 SubmittersRCV000305422 RCV000672432 RCV001004544 RCV002222477

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

SNV
Germline

Chr9:36222901

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056474

rs_141172610

4 SubmittersRCV000260873 RCV001085046 RCV001273952

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

SNV
Germline

Chr9:36246350

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy

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
Sialuria
GNE myopathy

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
Sialuria
GNE myopathy

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
Sialuria
GNE myopathy
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

Criteria Provided
Multiple Submitters
No Conflicts

CA5056722

rs_769215411

6 SubmittersRCV000597478 RCV000594398 RCV001214147

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

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy
not specified

Criteria Provided
Conflicting Classifications

CA5056373

rs_776384541

6 SubmittersRCV000593273 RCV000535604 RCV001274362 RCV003114458

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

SNV
Germline

Chr9:36223482

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA10606834

rs_886044498

2 SubmittersRCV000399281 RCV001436434

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

5 SubmittersRCV000596007 RCV000790761 RCV001386743

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

SNV
Germline

Chr9:36246436

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
GNE myopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10606885

rs_886044539

7 SubmittersRCV000400388 RCV000534256 RCV000657912 RCV003323497

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

GNE myopathy
Sialuria
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA10627319

rs_886063926

2 SubmittersRCV000332020 RCV000386564 RCV003766110

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

SNV
Germline

Chr9:36246332

Conflicting classifications of pathogenicity

Inclusion Body Myopathy, Recessive
Sialuria
GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

CA10630085

rs_886063927

2 SubmittersRCV000288779 RCV000284753 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
GNE myopathy
Sialuria
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
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16041316

rs_1057516364

2 SubmittersRCV000410389 RCV003766120

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

SNV
Germline

Chr9:36233986

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041318

rs_1057516374

6 SubmittersRCV000409849 RCV001390114 RCV001782866

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

SNV
Germline

Chr9:36234046

Pathogenic/Likely pathogenic

GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16041319

rs_1057516746

2 SubmittersRCV000409391 RCV001861376

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/Likely pathogenic

GNE myopathy
GNE myopathy
Sialuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5056732

rs_372872777

6 SubmittersRCV000411076 RCV001388253 RCV001782873

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

SNV
Germline

Chr9:36222839

Pathogenic/Likely pathogenic

GNE myopathy
GNE myopathy
Sialuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5056466

rs_764698870

8 SubmittersRCV000487445 RCV000763619 RCV003139687

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
GNE myopathy
Sialuria

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
GNE myopathy
Sialuria
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

2 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.1771G>A (p.Ala591Thr)

SNV
Germline

Chr9:36219883

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056429

rs_752286512

3 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
Sialuria
GNE myopathy
Sialuria
GNE myopathy
not specified

Criteria Provided
Conflicting Classifications

CA5056484

rs_146067766

7 SubmittersRCV000593407 RCV001169666 RCV001169667 RCV001245184 RCV001553584

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
GNE myopathy
Sialuria
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

CA5056506

rs_143485388

3 SubmittersRCV000611020 RCV000871791 RCV001169668 RCV001169669

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

SNV
Germline

Chr9:36222854

Pathogenic/Likely pathogenic

GNE myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554658910

2 SubmittersRCV000672708 RCV003140071

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

SNV
Unknown

Chr9:36222925

Pathogenic/Likely pathogenic

GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1212623980

2 SubmittersRCV000669224

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

SNV
Germline

Chr9:36236879

Conflicting classifications of pathogenicity

GNE myopathy
Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

rs_759945787

3 SubmittersRCV000667485 RCV000733198 RCV001390785

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

SNV
Germline

Chr9:36246346

Conflicting classifications of pathogenicity

GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

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

rs_769716748

5 SubmittersRCV000665671 RCV001784233 RCV002530662

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

SNV
Unknown

Chr9:36217412

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

rs_1554657922

1 SubmittersRCV000668880

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

SNV
Germline

Chr9:36222885

Pathogenic/Likely pathogenic

GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_754892377

3 SubmittersRCV000669521 RCV001861778

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

SNV
Germline

Chr9:36227271

Pathogenic

GNE myopathy
GNE myopathy
Sialuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_747199032

3 SubmittersRCV000667517 RCV001220120 RCV001592847

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

SNV
Unknown

Chr9:36246075

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

rs_1357906793

1 SubmittersRCV000666017

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

SNV
Unknown

Chr9:36233992

Conflicting classifications of pathogenicity

GNE myopathy

Criteria Provided
Conflicting Classifications

rs_755743750

2 SubmittersRCV000670521

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

SNV
Germline

Chr9:36246049

Conflicting classifications of pathogenicity

GNE myopathy
GNE myopathy
Sialuria
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_369328625

6 SubmittersRCV000674921 RCV001318626 RCV001784298 RCV003117482

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

SNV
Germline

Chr9:36246118

Pathogenic/Likely pathogenic

GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_539332585

3 SubmittersRCV000668839 RCV003767968

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

SNV
Germline

Chr9:36249276

Pathogenic/Likely pathogenic

GNE myopathy
GNE myopathy
Sialuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_766420673

4 SubmittersRCV000668355 RCV002530742

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

SNV
Germline

Chr9:36249361

Pathogenic/Likely pathogenic

GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Multiple Submitters
No Conflicts

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

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
not specified

Criteria Provided
Conflicting Classifications

rs_200763627

5 SubmittersRCV000733643 RCV000763620 RCV002271574

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

SNV
Germline

Chr9:36218175

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

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
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

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
Neuronal ceroid lipofuscinosis
GNE myopathy
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

rs_1401082365

3 SubmittersRCV000732542 RCV001050314 RCV004526764 RCV004579561 RCV004540067

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_966918577

2 SubmittersRCV000734973 RCV001385021

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

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

rs_1563946658

1 SubmittersRCV000786067

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

SNV
Germline

Chr9:36217438

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

rs_552758282

2 SubmittersRCV000778884 RCV001165629 RCV001856164

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

SNV
Germline

Chr9:36219887

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

rs_777310871

3 SubmittersRCV001066169 RCV001167795 RCV001167794

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

SNV
Germline

Chr9:36219994

Conflicting classifications of pathogenicity

GNE myopathy
Sialuria
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003086902 RCV003269456

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

SNV
Germline

Chr9:36236985

Likely pathogenic

Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_758086020

5 SubmittersRCV000841722 RCV001165682 RCV001165681 RCV001465340 RCV003892768

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

SNV
Germline

Chr9:36217511

Pathogenic

GNE myopathy
Sialuria
Condition: not provided
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1191857860

5 SubmittersRCV001067578 RCV003142021 RCV002509608

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

SNV
Germline

Chr9:36249351

Pathogenic/Likely pathogenic

Condition: not provided
Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_185870650

1 SubmittersRCV001167084 RCV001167085

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

SNV
Germline

Chr9:36222928

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
Sialuria
GNE myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1485580233

3 SubmittersRCV001167798 RCV001169665 RCV002559605 RCV004570328

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

SNV
Germline

Chr9:36236848

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

rs_370479900

2 SubmittersRCV001167277 RCV001167276 RCV002068025

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

SNV
Germline

Chr9:36246117

Conflicting classifications of pathogenicity

Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

rs_772597073

1 SubmittersRCV001167278 RCV001167279

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

SNV
Germline

Chr9:36222942

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

rs_1554658955

1 SubmittersRCV001227701

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

SNV
Germline

Chr9:36234115

Pathogenic

GNE myopathy
Sialuria
GNE myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

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

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

rs_1829294478

1 SubmittersRCV001263571

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

SNV
Germline

Chr9:36219833

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

rs_2133005844

1 SubmittersRCV001385136

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

SNV
Germline

Chr9:36246345

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Conflicting Classifications

rs_144727134

4 SubmittersRCV001756633 RCV001882823 RCV003314014

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

SNV
Germline

Chr9:36229043

Pathogenic

GNE myopathy
Sialuria

Criteria Provided
Single Submitter

rs_1276168825

1 SubmittersRCV001960552

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

SNV
Germline

Chr9:36229073

Pathogenic/Likely pathogenic

GNE myopathy
Sialuria
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_2133006228

1 SubmittersRCV001889822

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

SNV
Germline

Chr9:36233918

Likely pathogenic

Sialuria
GNE myopathy
GNE myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2133067872

2 SubmittersRCV002043361 RCV004571976

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

SNV
Germline

Chr9:36227462

Conflicting classifications of pathogenicity

Condition: not provided
GNE myopathy
Sialuria

Criteria Provided
Conflicting Classifications

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

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

1 SubmittersRCV002308151

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

SNV
Unknown

Chr9:36219867

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV002310387

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

SNV
Germline

Chr9:36236979

Likely pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003062212

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

SNV
Germline

Chr9:36246091

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003062213

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

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

1 SubmittersRCV003043319

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

SNV
Germline

Chr9:36234024

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003337935

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

SNV
Unknown

Chr9:36218231

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003468281

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

SNV
Unknown

Chr9:36234075

Pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003468283

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

SNV
Germline

Chr9:36234037

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003781312

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

SNV
Germline

Chr9:36227460

Likely pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003798307

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

SNV
Germline

Chr9:36218301

Likely pathogenic

GNE myopathy
Sialuria

Criteria Provided
Single Submitter

1 SubmittersRCV003792517

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

SNV
Germline

Chr9:36234033

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003803776

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

SNV
Germline

Chr9:36217509

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003809157

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

SNV
Germline

Chr9:36223372

Likely pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003800524

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

SNV
Germline

Chr9:36276892

Likely pathogenic

GNE myopathy
Sialuria

Criteria Provided
Single Submitter

1 SubmittersRCV003812375

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

SNV
Germline

Chr9:36229031

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003805038

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

SNV
Germline

Chr9:36218182

Pathogenic

Sialuria
GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003805086

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

SNV
Germline

Chr9:36246144

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003989380

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

SNV
Unknown

Chr9:36246151

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004576687

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

SNV
Unknown

Chr9:36218228

Pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004576690

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

SNV
Unknown

Chr9:36217478

Likely pathogenic

GNE myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004576694