ClinVar for MedGen (Select 137980) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24282131.	NM_001128227.3(GNE):c.26G>C (p.Arg9Thr) GRCh37: Chr9:36276916 GRCh38: Chr9:36276919	GNE	R9T	Sialuria, GNE myopathy	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 24237702.	NC_000009.11:g.(?_36229008)_(36236991_?)dup GRCh37: Chr9:36229008-36236991	GNE		GNE myopathy, Sialuria	Likely pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 24237693.	NC_000009.11:g.(?_36246018)_(36249404_?)dup GRCh37: Chr9:36246018-36249404	GNE		GNE myopathy, Sialuria	Likely pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 24237684.	NC_000009.11:g.(?_36227225)_(36276941_?)del GRCh37: Chr9:36227225-36276941	GNE		GNE myopathy, Sialuria	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 24237675.	NC_000009.11:g.(?_36246008)_(36276941_?)del GRCh37: Chr9:36246008-36276941	GNE		GNE myopathy, Sialuria	Pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 24237666.	NC_000009.11:g.(?_36246018)_(36246489_?)del GRCh37: Chr9:36246018-36246489	GNE		GNE myopathy, Sialuria	Pathogenic (Nov 21, 2021)	criteria provided, single submitter
Select item 24211367.	NM_005476.7(GNE):c.164+7T>C GRCh37: Chr9:36249182 GRCh38: Chr9:36249185	GNE		GNE myopathy, Sialuria	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 24169928.	NM_005476.7(GNE):c.840A>G (p.Lys280=) GRCh37: Chr9:36234059 GRCh38: Chr9:36234062	GNE		GNE myopathy, Sialuria	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 24167419.	NM_005476.7(GNE):c.1479A>C (p.Gln493His) GRCh37: Chr9:36222928 GRCh38: Chr9:36222931	GNE	Q383H, Q434H, Q442H, Q493H, Q524H	GNE myopathy, Sialuria	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 220236710.	NM_005476.7(GNE):c.1510C>G (p.Leu504Val) GRCh37: Chr9:36222897 GRCh38: Chr9:36222900	GNE	L394V, L445V, L453V, L504V, L535V	Sialuria, GNE myopathy	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 220173611.	NM_005476.7(GNE):c.1377A>C (p.Glu459Asp) GRCh37: Chr9:36223404 GRCh38: Chr9:36223407	GNE	E400D, E408D, E459D, E490D, E349D	GNE myopathy, Sialuria	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 219603312.	NM_005476.7(GNE):c.78C>G (p.Ala26=) GRCh37: Chr9:36249275 GRCh38: Chr9:36249278	GNE		GNE myopathy, Sialuria	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 219508413.	NM_005476.7(GNE):c.1539G>A (p.Trp513Ter) GRCh37: Chr9:36222868 GRCh38: Chr9:36222871	GNE	W403, W544, W454, W462, W513*	Sialuria, GNE myopathy, not provided	Pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219485214.	NM_005476.7(GNE):c.164+16T>C GRCh37: Chr9:36249173 GRCh38: Chr9:36249176	GNE		Sialuria, GNE myopathy	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 219418415.	NM_005476.7(GNE):c.1634-11C>T GRCh37: Chr9:36220028 GRCh38: Chr9:36220031	GNE		Sialuria, GNE myopathy	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 219226716.	NM_005476.7(GNE):c.605G>A (p.Arg202His) GRCh37: Chr9:36246039 GRCh38: Chr9:36246042	GNE	R143H, R202H, R233H	Sialuria, GNE myopathy	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 219127217.	NM_005476.7(GNE):c.1282-19T>C GRCh37: Chr9:36223518 GRCh38: Chr9:36223521	GNE		Sialuria, GNE myopathy	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 218622318.	NM_005476.7(GNE):c.1127C>T (p.Ser376Phe) GRCh37: Chr9:36227399 GRCh38: Chr9:36227402	GNE	S266F, S407F, S317F, S376F, S325F	Sialuria, GNE myopathy	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 218243419.	NM_005476.7(GNE):c.102C>A (p.Thr34=) GRCh37: Chr9:36249251 GRCh38: Chr9:36249254	GNE		Sialuria, GNE myopathy	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 217704220.	NM_005476.7(GNE):c.1732G>C (p.Asp578His) GRCh37: Chr9:36219919 GRCh38: Chr9:36219922	GNE	D468H, D519H, D578H, D504H, D609H, D527H	GNE myopathy, Sialuria	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 217141221.	NM_005476.7(GNE):c.1660C>T (p.His554Tyr) GRCh37: Chr9:36219991 GRCh38: Chr9:36219994	GNE	H480Y, H585Y, H444Y, H554Y, H503Y, H495Y	Sialuria, GNE myopathy, Inborn genetic diseases	Conflicting interpretations of pathogenicity (May 26, 2023)	criteria provided, conflicting interpretations
Select item 216216922.	NM_005476.7(GNE):c.879T>C (p.His293=) GRCh37: Chr9:36234020 GRCh38: Chr9:36234023	GNE		GNE myopathy, Sialuria	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 215617723.	NM_005476.7(GNE):c.1282-18_1282-17insTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG GRCh37: Chr9:36223516-36223517 GRCh38: Chr9:36223519-36223520	GNE		Sialuria, GNE myopathy	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 215575024.	NM_005476.7(GNE):c.844G>A (p.Val282Ile) GRCh37: Chr9:36234055 GRCh38: Chr9:36234058	GNE	V282I, V172I, V223I, V231I, V313I	Sialuria, GNE myopathy	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 215485825.	NM_005476.7(GNE):c.2160G>A (p.Arg720=) GRCh37: Chr9:36217371 GRCh38: Chr9:36217374	GNE		GNE myopathy, Sialuria	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 215160826.	NM_001128227.3(GNE):c.51+11C>T GRCh37: Chr9:36276880 GRCh38: Chr9:36276883	GNE		Sialuria, GNE myopathy	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 215155527.	NM_005476.7(GNE):c.2150C>G (p.Thr717Arg) GRCh37: Chr9:36217381 GRCh38: Chr9:36217384	GNE	T643R, T748R, T666R, T658R, T607R, T717R	Sialuria, GNE myopathy	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 214790628.	NM_005476.7(GNE):c.1414A>G (p.Ile472Val) GRCh37: Chr9:36222993 GRCh38: Chr9:36222996	GNE	I413V, I421V, I503V, I362V, I472V	Sialuria, GNE myopathy	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 214745929.	NM_005476.7(GNE):c.1281+10C>T GRCh37: Chr9:36227235 GRCh38: Chr9:36227238	GNE		Sialuria, GNE myopathy	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 214630730.	NM_005476.7(GNE):c.616+4C>T GRCh37: Chr9:36246024 GRCh38: Chr9:36246027	GNE		Sialuria, GNE myopathy	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 214554331.	NM_005476.7(GNE):c.1755G>C (p.Gly585=) GRCh37: Chr9:36219896 GRCh38: Chr9:36219899	GNE		Sialuria, GNE myopathy	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 214421332.	NM_005476.7(GNE):c.107C>A (p.Pro36His) GRCh37: Chr9:36249246 GRCh38: Chr9:36249249	GNE	P36H, P67H	Sialuria, GNE myopathy	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 213946233.	NM_005476.7(GNE):c.1282-15_1282-14insGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG GRCh37: Chr9:36223513-36223514 GRCh38: Chr9:36223516-36223517	GNE		GNE myopathy, Sialuria	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 213677634.	NM_005476.7(GNE):c.556T>C (p.Tyr186His) GRCh37: Chr9:36246088 GRCh38: Chr9:36246091	GNE	Y217H, Y127H, Y186H	GNE myopathy, Sialuria	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 213677535.	NM_005476.7(GNE):c.622G>A (p.Asp208Asn) GRCh37: Chr9:36236976 GRCh38: Chr9:36236979	GNE	D208N, D149N, D239N	GNE myopathy, Sialuria	Likely pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 213448936.	NM_005476.7(GNE):c.2024A>G (p.Tyr675Cys) GRCh37: Chr9:36217507 GRCh38: Chr9:36217510	GNE	Y565C, Y706C, Y601C, Y616C, Y624C, Y675C	GNE myopathy, Sialuria	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 213364937.	NM_005476.7(GNE):c.1816+8T>G GRCh37: Chr9:36219827 GRCh38: Chr9:36219830	GNE		GNE myopathy, Sialuria	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 213270738.	NM_005476.7(GNE):c.734A>C (p.Lys245Thr) GRCh37: Chr9:36236864 GRCh38: Chr9:36236867	GNE	K186T, K245T, K276T	not provided, GNE myopathy, Sialuria	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213245239.	NM_005476.7(GNE):c.983-8T>G GRCh37: Chr9:36229113 GRCh38: Chr9:36229116	GNE		GNE myopathy, Sialuria	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 212927340.	NM_005476.7(GNE):c.112T>C (p.Phe38Leu) GRCh37: Chr9:36249241 GRCh38: Chr9:36249244	GNE	F69L, F38L	Sialuria, GNE myopathy	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212873841.	NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer) GRCh37: Chr9:36217541 GRCh38: Chr9:36217544	GNE		Sialuria, GNE myopathy	Pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 212626942.	NM_005476.7(GNE):c.1038A>G (p.Ala346=) GRCh37: Chr9:36229050 GRCh38: Chr9:36229053	GNE		Sialuria, GNE myopathy	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 212168543.	NM_001128227.3(GNE):c.22C>T (p.Gln8Ter) GRCh37: Chr9:36276920 GRCh38: Chr9:36276923	GNE	Q8*	Sialuria, GNE myopathy	Pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 212092644.	NM_001128227.3(GNE):c.88C>A (p.Gln30Lys) GRCh37: Chr9:36249358 GRCh38: Chr9:36249361	GNE	Q30K	Sialuria, GNE myopathy	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 212023645.	NM_005476.7(GNE):c.1817-18C>A GRCh37: Chr9:36218314 GRCh38: Chr9:36218317	GNE		Sialuria, GNE myopathy	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211937046.	NM_005476.7(GNE):c.1282-3_1282-2insGTTGTTTTCTCTTTTTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG GRCh37: Chr9:36223501-36223502 GRCh38: Chr9:36223504-36223505	GNE		Sialuria, GNE myopathy	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211721947.	NM_005476.7(GNE):c.243G>A (p.Glu81=) GRCh37: Chr9:36246401 GRCh38: Chr9:36246404	GNE		Sialuria, GNE myopathy	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211667648.	NM_005476.7(GNE):c.1323C>T (p.Thr441=) GRCh37: Chr9:36223458 GRCh38: Chr9:36223461	GNE		Sialuria, GNE myopathy	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 211415549.	NM_005476.7(GNE):c.1872G>T (p.Ala624=) GRCh37: Chr9:36218241 GRCh38: Chr9:36218244	GNE		Sialuria, GNE myopathy	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 211289150.	NM_005476.7(GNE):c.1488C>T (p.Asn496=) GRCh37: Chr9:36222919 GRCh38: Chr9:36222922	GNE		Sialuria, GNE myopathy	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 210810951.	NM_005476.7(GNE):c.2135del (p.Met712fs) GRCh37: Chr9:36217396 GRCh38: Chr9:36217399	GNE	M661fs, M653fs, M638fs, M602fs, M712fs, M743fs	Sialuria, GNE myopathy	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 210173252.	NM_005476.7(GNE):c.1282-17_1282-16insGATCCACCCGCCTCGG GRCh37: Chr9:36223515-36223516 GRCh38: Chr9:36223518-36223519	GNE		GNE myopathy, Sialuria	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 210155153.	NM_005476.7(GNE):c.1759A>G (p.Ile587Val) GRCh37: Chr9:36219892 GRCh38: Chr9:36219895	GNE	I528V, I477V, I587V, I618V, I513V, I536V	GNE myopathy, Sialuria	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209790054.	NM_005476.7(GNE):c.101C>G (p.Thr34Ser) GRCh37: Chr9:36249252 GRCh38: Chr9:36249255	GNE	T34S, T65S	GNE myopathy, Sialuria	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 209348955.	NM_005476.7(GNE):c.1387C>T (p.Leu463=) GRCh37: Chr9:36223394 GRCh38: Chr9:36223397	GNE		GNE myopathy, Sialuria	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 208912056.	NM_005476.7(GNE):c.1572G>C (p.Ala524=) GRCh37: Chr9:36222835 GRCh38: Chr9:36222838	GNE		GNE myopathy, Sialuria	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 208710357.	NM_005476.7(GNE):c.1817-4T>G GRCh37: Chr9:36218300 GRCh38: Chr9:36218303	GNE		GNE myopathy, Sialuria	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208659958.	NM_005476.7(GNE):c.750G>A (p.Leu250=) GRCh37: Chr9:36236848 GRCh38: Chr9:36236851	GNE		GNE myopathy, Sialuria	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 208625059.	NM_005476.7(GNE):c.1634-6C>A GRCh37: Chr9:36220023 GRCh38: Chr9:36220026	GNE		GNE myopathy, Sialuria	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 207614360.	NM_001128227.3(GNE):c.78A>G (p.Lys26=) GRCh37: Chr9:36249368 GRCh38: Chr9:36249371	GNE		Sialuria, GNE myopathy	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 207553861.	NM_005476.7(GNE):c.253G>A (p.Val85Met) GRCh37: Chr9:36246391 GRCh38: Chr9:36246394	GNE	V116M, V26M, V85M	GNE myopathy, Sialuria	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 207170362.	NM_001128227.3(GNE):c.86A>C (p.Lys29Thr) GRCh37: Chr9:36249360 GRCh38: Chr9:36249363	GNE	K29T	GNE myopathy, Sialuria	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 206235263.	NM_005476.7(GNE):c.1441C>T (p.Arg481Trp) GRCh37: Chr9:36222966 GRCh38: Chr9:36222969	GNE	R371W, R422W, R430W, R512W, R481W	Sialuria, GNE myopathy	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 206147064.	NM_005476.7(GNE):c.1520C>T (p.Thr507Ile) GRCh37: Chr9:36222887 GRCh38: Chr9:36222890	GNE	T397I, T456I, T507I, T538I, T448I	Sialuria, GNE myopathy	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 205528665.	NM_005476.7(GNE):c.2080G>A (p.Val694Met) GRCh37: Chr9:36217451 GRCh38: Chr9:36217454	GNE	V620M, V694M, V725M, V584M, V643M, V635M	GNE myopathy, Sialuria	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 205286266.	NM_005476.7(GNE):c.548G>C (p.Cys183Ser) GRCh37: Chr9:36246096 GRCh38: Chr9:36246099	GNE	C183S, C214S, C124S	Sialuria, GNE myopathy	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 205087267.	NM_005476.7(GNE):c.363A>G (p.Thr121=) GRCh37: Chr9:36246281 GRCh38: Chr9:36246284	GNE		Sialuria, GNE myopathy	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 204845568.	NM_005476.7(GNE):c.2033T>C (p.Ile678Thr) GRCh37: Chr9:36217498 GRCh38: Chr9:36217501	GNE	I678T, I709T, I568T, I627T, I604T, I619T	Sialuria, GNE myopathy	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 204844969.	NM_005476.7(GNE):c.2109C>A (p.Asp703Glu) GRCh37: Chr9:36217422 GRCh38: Chr9:36217425	GNE	D629E, D734E, D703E, D593E, D644E, D652E	Sialuria, GNE myopathy	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 204320570.	NM_005476.7(GNE):c.616+5G>A GRCh37: Chr9:36246023 GRCh38: Chr9:36246026	GNE		Sialuria, GNE myopathy	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 204303571.	NM_005476.7(GNE):c.444T>C (p.His148=) GRCh37: Chr9:36246200 GRCh38: Chr9:36246203	GNE		Sialuria, GNE myopathy	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 204230572.	NM_005476.7(GNE):c.2051G>A (p.Arg684His) GRCh37: Chr9:36217480 GRCh38: Chr9:36217483	GNE	R684H, R625H, R574H, R610H, R715H, R633H	Sialuria, GNE myopathy	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 203566473.	NM_005476.7(GNE):c.654A>G (p.Leu218=) GRCh37: Chr9:36236944 GRCh38: Chr9:36236947	GNE		GNE myopathy, Sialuria	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 203502374.	NM_005476.7(GNE):c.1749C>T (p.Ser583=) GRCh37: Chr9:36219902 GRCh38: Chr9:36219905	GNE		GNE myopathy, Sialuria	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 203341275.	NM_005476.7(GNE):c.1281+8A>G GRCh37: Chr9:36227237 GRCh38: Chr9:36227240	GNE		Sialuria, GNE myopathy	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 203306776.	NM_005476.7(GNE):c.474G>A (p.Val158=) GRCh37: Chr9:36246170 GRCh38: Chr9:36246173	GNE		GNE myopathy, Sialuria	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 203197077.	NM_005476.7(GNE):c.385C>G (p.Arg129Gly) GRCh37: Chr9:36246259 GRCh38: Chr9:36246262	GNE	R129G, R160G, R70G	Sialuria, GNE myopathy	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 203135978.	NM_005476.7(GNE):c.1634-13T>G GRCh37: Chr9:36220030 GRCh38: Chr9:36220033	GNE		Sialuria, GNE myopathy	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 203092779.	NM_005476.7(GNE):c.76_77delinsTT (p.Ala26Phe) GRCh37: Chr9:36249276-36249277 GRCh38: Chr9:36249279-36249280	GNE	A26F, A57F	Sialuria, GNE myopathy	Uncertain significance (Dec 12, 2021)	criteria provided, single submitter
Select item 202787380.	NM_005476.7(GNE):c.769+10C>T GRCh37: Chr9:36236819 GRCh38: Chr9:36236822	GNE		Sialuria, GNE myopathy	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202592481.	NM_005476.7(GNE):c.1881C>T (p.Leu627=) GRCh37: Chr9:36218232 GRCh38: Chr9:36218235	GNE		GNE myopathy, Sialuria	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202514382.	NM_001128227.3(GNE):c.75A>G (p.Ser25=) GRCh37: Chr9:36249371 GRCh38: Chr9:36249374	GNE		GNE myopathy, Sialuria	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 202503483.	NM_005476.7(GNE):c.1634-10C>T GRCh37: Chr9:36220027 GRCh38: Chr9:36220030	GNE		GNE myopathy, Sialuria	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 202171284.	NM_005476.7(GNE):c.1926_1927insCGGCCCAGAGCATCCTA (p.Arg643_Thr644insProArgAlaSerTer) GRCh37: Chr9:36218186-36218187 GRCh38: Chr9:36218189-36218190	GNE		Sialuria, GNE myopathy	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 202048785.	NM_005476.7(GNE):c.884G>T (p.Gly295Val) GRCh37: Chr9:36234015 GRCh38: Chr9:36234018	GNE	G326V, G236V, G185V, G244V, G295V	Sialuria, GNE myopathy	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 201903386.	NM_005476.7(GNE):c.623A>C (p.Asp208Ala) GRCh37: Chr9:36236975 GRCh38: Chr9:36236978	GNE	D149A, D208A, D239A	Sialuria, GNE myopathy	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 201861887.	NM_005476.7(GNE):c.1139_1140insTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAATACCTTTTTGAAAAAGTCATGGAGGCCATGGGGTTGGCTTGAAACCAGCTTTGGGGGGTTCGATTCCTTCCTTTTTTGTCTAGATTTTATGTATACGGGTTCTTCGAATGTGTGGTTCA (p.Gln380delinsHisSerLeuTer) GRCh37: Chr9:36227386-36227387 GRCh38: Chr9:36227389-36227390	GNE		Sialuria, GNE myopathy	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 201492788.	NM_005476.7(GNE):c.798del (p.Lys267fs) GRCh37: Chr9:36234101 GRCh38: Chr9:36234104	GNE	K157fs, K298fs, K208fs, K267fs, K216fs	GNE myopathy, Sialuria	Pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 201477289.	NM_005476.7(GNE):c.2142G>T (p.Leu714=) GRCh37: Chr9:36217389 GRCh38: Chr9:36217392	GNE		GNE myopathy, Sialuria	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 201038790.	NM_005476.7(GNE):c.1633+12A>G GRCh37: Chr9:36222762 GRCh38: Chr9:36222765	GNE		Sialuria, GNE myopathy	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 200978791.	NM_005476.7(GNE):c.2105T>A (p.Val702Asp) GRCh37: Chr9:36217426 GRCh38: Chr9:36217429	GNE	V628D, V592D, V651D, V643D, V702D, V733D	Sialuria, GNE myopathy	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 200156392.	NM_001128227.3(GNE):c.27G>A (p.Arg9=) GRCh37: Chr9:36276915 GRCh38: Chr9:36276918	GNE		Sialuria, GNE myopathy	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 199163793.	NM_005476.7(GNE):c.1282-17_1282-16insGATCTCCTGACCTCATGATCCACCCGCCTCGG GRCh37: Chr9:36223515-36223516 GRCh38: Chr9:36223518-36223519	GNE		GNE myopathy, Sialuria	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 199149794.	NM_005476.7(GNE):c.1016C>T (p.Thr339Ile) GRCh37: Chr9:36229072 GRCh38: Chr9:36229075	GNE	T370I, T280I, T288I, T339I, T229I	GNE myopathy, Sialuria	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 198423695.	NM_005476.7(GNE):c.1938A>T (p.Gly646=) GRCh37: Chr9:36217593 GRCh38: Chr9:36217596	GNE		GNE myopathy, Sialuria	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 198292596.	NM_005476.7(GNE):c.1282-18_1282-17insCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG GRCh37: Chr9:36223516-36223517 GRCh38: Chr9:36223519-36223520	GNE		Sialuria, GNE myopathy	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 198178297.	NM_005476.7(GNE):c.1282-14_1282-12del GRCh37: Chr9:36223511-36223513 GRCh38: Chr9:36223514-36223516	GNE		GNE myopathy, Sialuria	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 197372998.	NM_005476.7(GNE):c.862A>G (p.Ile288Val) GRCh37: Chr9:36234037 GRCh38: Chr9:36234040	GNE	I229V, I237V, I319V, I178V, I288V	Sialuria, GNE myopathy	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 197117899.	NM_005476.7(GNE):c.1326T>C (p.Tyr442=) GRCh37: Chr9:36223455 GRCh38: Chr9:36223458	GNE		GNE myopathy, Sialuria	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 1965186100.	NM_005476.7(GNE):c.1282-18_1282-17insCGATCTCCTGACCTCATGATCCACCCGCCTCGG GRCh37: Chr9:36223516-36223517 GRCh38: Chr9:36223519-36223520	GNE		Sialuria, GNE myopathy	Likely benign (Aug 11, 2022)	criteria provided, single submitter

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