ClinVar for MedGen (Select 442873) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24247141.	NM_053013.4(ENO3):c.444+14C>T GRCh37: Chr17:4857154 GRCh38: Chr17:4953859	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 24219122.	NM_053013.4(ENO3):c.310+7G>A GRCh37: Chr17:4856643 GRCh38: Chr17:4953348	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 24208563.	NM_053013.4(ENO3):c.1239C>T (p.Ile413=) GRCh37: Chr17:4860276 GRCh38: Chr17:4956981	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 24200504.	NM_053013.4(ENO3):c.6C>T (p.Ala2=) GRCh37: Chr17:4855130 GRCh38: Chr17:4951835	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 22025835.	NM_053013.4(ENO3):c.865+12G>A GRCh37: Chr17:4858911 GRCh38: Chr17:4955616	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 22017506.	NM_053013.4(ENO3):c.1199G>A (p.Arg400His) GRCh37: Chr17:4860148 GRCh38: Chr17:4956853	ENO3	R400H, R357H, R409H	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 21998967.	NM_053013.4(ENO3):c.667+11del GRCh37: Chr17:4858603 GRCh38: Chr17:4955308	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 21998818.	NM_053013.4(ENO3):c.352G>A (p.Val118Met) GRCh37: Chr17:4857048 GRCh38: Chr17:4953753	ENO3	V118M, V75M, V127M	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 21991379.	NM_053013.4(ENO3):c.300C>T (p.Thr100=) GRCh37: Chr17:4856626 GRCh38: Chr17:4953331	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 219459310.	NM_053013.4(ENO3):c.801C>T (p.Pro267=) GRCh37: Chr17:4858835 GRCh38: Chr17:4955540	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219420111.	NM_053013.4(ENO3):c.877G>A (p.Glu293Lys) GRCh37: Chr17:4859248 GRCh38: Chr17:4955953	ENO3	E250K, E293K, E302K	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Dec 16, 2021)	criteria provided, single submitter
Select item 219260012.	NM_053013.4(ENO3):c.802G>A (p.Ala268Thr) GRCh37: Chr17:4858836 GRCh38: Chr17:4955541	ENO3	A225T, A268T, A277T	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 219218413.	NM_053013.4(ENO3):c.135G>A (p.Glu45=) GRCh37: Chr17:4856139 GRCh38: Chr17:4952844	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 218957914.	NM_053013.4(ENO3):c.556G>A (p.Ala186Thr) GRCh37: Chr17:4858481 GRCh38: Chr17:4955186	ENO3	A143T, A186T, A195T	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 218781415.	NM_053013.4(ENO3):c.182-7T>C GRCh37: Chr17:4856339 GRCh38: Chr17:4953044	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 218699216.	NM_053013.4(ENO3):c.758G>A (p.Arg253His) GRCh37: Chr17:4858792 GRCh38: Chr17:4955497	ENO3	R210H, R253H, R262H	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 218591117.	NM_053013.4(ENO3):c.613A>G (p.Thr205Ala) GRCh37: Chr17:4858538 GRCh38: Chr17:4955243	ENO3	T214A, T162A, T205A	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 218585418.	NM_053013.4(ENO3):c.351C>T (p.Ala117=) GRCh37: Chr17:4857047 GRCh38: Chr17:4953752	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 218482219.	NM_053013.4(ENO3):c.524C>T (p.Ala175Val) GRCh37: Chr17:4858449 GRCh38: Chr17:4955154	ENO3	A184V, A175V, A132V	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 218379520.	NM_053013.4(ENO3):c.1303T>C (p.Ter435Arg) GRCh37: Chr17:4860340 GRCh38: Chr17:4957045	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 218340921.	NM_053013.4(ENO3):c.846C>G (p.Ser282Arg) GRCh37: Chr17:4858880 GRCh38: Chr17:4955585	ENO3	S282R, S239R, S291R	Inborn genetic diseases, Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218286922.	NM_053013.4(ENO3):c.412G>C (p.Ala138Pro) GRCh37: Chr17:4857108 GRCh38: Chr17:4953813	ENO3	A138P, A147P, A95P	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 218188623.	NM_053013.4(ENO3):c.262G>T (p.Glu88Ter) GRCh37: Chr17:4856588 GRCh38: Chr17:4953293	ENO3	E88, E97	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 218069424.	NM_053013.4(ENO3):c.240+16C>T GRCh37: Chr17:4856420 GRCh38: Chr17:4953125	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 218035425.	NM_053013.4(ENO3):c.1286G>A (p.Arg429His) GRCh37: Chr17:4860323 GRCh38: Chr17:4957028	ENO3	R386H, R429H, R438H	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 217454926.	NM_053013.4(ENO3):c.657G>A (p.Glu219=) GRCh37: Chr17:4858582 GRCh38: Chr17:4955287	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 216933527.	NM_053013.4(ENO3):c.1181A>G (p.Lys394Arg) GRCh37: Chr17:4860130 GRCh38: Chr17:4956835	ENO3	K394R, K351R, K403R	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 216804228.	NM_053013.4(ENO3):c.829G>A (p.Gly277Arg) GRCh37: Chr17:4858863 GRCh38: Chr17:4955568	ENO3	G234R, G277R, G286R	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 216682729.	NM_053013.4(ENO3):c.547C>T (p.Arg183Cys) GRCh37: Chr17:4858472 GRCh38: Chr17:4955177	ENO3	R183C, R192C, R140C	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 216667230.	NM_053013.4(ENO3):c.522A>G (p.Gly174=) GRCh37: Chr17:4858447 GRCh38: Chr17:4955152	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 216518631.	NM_053013.4(ENO3):c.662A>G (p.Asn221Ser) GRCh37: Chr17:4858587 GRCh38: Chr17:4955292	ENO3	N230S, N221S, N178S	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 216318932.	NM_053013.4(ENO3):c.1296G>C (p.Lys432Asn) GRCh37: Chr17:4860333 GRCh38: Chr17:4957038	ENO3	K389N, K432N, K441N	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 216036333.	NM_053013.4(ENO3):c.235C>T (p.Gln79Ter) GRCh37: Chr17:4856399 GRCh38: Chr17:4953104	ENO3	Q79, Q88	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 215933534.	NM_053013.4(ENO3):c.1257C>A (p.Asp419Glu) GRCh37: Chr17:4860294 GRCh38: Chr17:4956999	ENO3	D419E, D428E, D376E	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 215884535.	NM_053013.4(ENO3):c.1236G>C (p.Arg412Ser) GRCh37: Chr17:4860273 GRCh38: Chr17:4956978	ENO3	R369S, R412S, R421S	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 215683636.	NM_053013.4(ENO3):c.131A>G (p.Tyr44Cys) GRCh37: Chr17:4856135 GRCh38: Chr17:4952840	ENO3	Y44C, Y53C	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 215537337.	NM_053013.4(ENO3):c.384C>T (p.Val128=) GRCh37: Chr17:4857080 GRCh38: Chr17:4953785	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 215249138.	NM_053013.4(ENO3):c.211_212delinsGG (p.Asn71Gly) GRCh37: Chr17:4856375-4856376 GRCh38: Chr17:4953080-4953081	ENO3	N71G, N80G	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 215161539.	NM_053013.4(ENO3):c.394C>T (p.Arg132Cys) GRCh37: Chr17:4857090 GRCh38: Chr17:4953795	ENO3	R132C, R141C, R89C	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 215010040.	NM_053013.4(ENO3):c.444+5G>A GRCh37: Chr17:4857145 GRCh38: Chr17:4953850	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 214935041.	NM_053013.4(ENO3):c.1221C>A (p.Tyr407Ter) GRCh37: Chr17:4860170 GRCh38: Chr17:4956875	ENO3	Y364, Y416, Y407*	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 214752142.	NM_053013.4(ENO3):c.298A>T (p.Thr100Ser) GRCh37: Chr17:4856624 GRCh38: Chr17:4953329	ENO3	T109S, T100S	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 214526043.	NM_053013.4(ENO3):c.563T>C (p.Val188Ala) GRCh37: Chr17:4858488 GRCh38: Chr17:4955193	ENO3	V145A, V188A, V197A	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 214516944.	NM_053013.4(ENO3):c.1240G>A (p.Glu414Lys) GRCh37: Chr17:4860277 GRCh38: Chr17:4956982	ENO3	E371K, E414K, E423K	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 214453745.	NM_053013.4(ENO3):c.445-13C>T GRCh37: Chr17:4858357 GRCh38: Chr17:4955062	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 214262946.	NM_053013.4(ENO3):c.95G>A (p.Arg32Gln) GRCh37: Chr17:4856099 GRCh38: Chr17:4952804	ENO3	R32Q, R41Q	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 214157947.	NM_053013.4(ENO3):c.744A>G (p.Ala248=) GRCh37: Chr17:4858778 GRCh38: Chr17:4955483	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 214157048.	NM_053013.4(ENO3):c.771C>T (p.Tyr257=) GRCh37: Chr17:4858805 GRCh38: Chr17:4955510	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 214022649.	NM_053013.4(ENO3):c.623G>C (p.Gly208Ala) GRCh37: Chr17:4858548 GRCh38: Chr17:4955253	ENO3	G165A, G208A, G217A	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 214012950.	NM_053013.4(ENO3):c.383T>A (p.Val128Asp) GRCh37: Chr17:4857079 GRCh38: Chr17:4953784	ENO3	V137D, V85D, V128D	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 213905451.	NM_053013.4(ENO3):c.1203G>A (p.Ser401=) GRCh37: Chr17:4860152 GRCh38: Chr17:4956857	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 213788852.	NM_053013.4(ENO3):c.1095G>A (p.Trp365Ter) GRCh37: Chr17:4859895 GRCh38: Chr17:4956600	ENO3	W322, W365, W374*	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 213147853.	NM_053013.4(ENO3):c.1177A>G (p.Ile393Val) GRCh37: Chr17:4860126 GRCh38: Chr17:4956831	ENO3	I350V, I393V, I402V	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 212969554.	NM_053013.4(ENO3):c.1233G>A (p.Met411Ile) GRCh37: Chr17:4860182 GRCh38: Chr17:4956887	ENO3	M411I, M368I, M420I	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 212913955.	NM_053013.4(ENO3):c.468C>T (p.Gly156=) GRCh37: Chr17:4858393 GRCh38: Chr17:4955098	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 212384356.	NM_053013.4(ENO3):c.444+7G>A GRCh37: Chr17:4857147 GRCh38: Chr17:4953852	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 212108057.	NM_053013.4(ENO3):c.86-12C>T GRCh37: Chr17:4856078 GRCh38: Chr17:4952783	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 211801858.	NM_053013.4(ENO3):c.469T>G (p.Ser157Ala) GRCh37: Chr17:4858394 GRCh38: Chr17:4955099	ENO3	S166A, S114A, S157A	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211293459.	NM_053013.4(ENO3):c.1215C>T (p.Ala405=) GRCh37: Chr17:4860164 GRCh38: Chr17:4956869	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 211181760.	NM_053013.4(ENO3):c.181+6_181+8del GRCh37: Chr17:4856188-4856190 GRCh38: Chr17:4952893-4952895	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 210057261.	NM_053013.4(ENO3):c.444+1G>T GRCh37: Chr17:4857141 GRCh38: Chr17:4953846	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209255362.	NM_053013.4(ENO3):c.531C>T (p.Ser177=) GRCh37: Chr17:4858456 GRCh38: Chr17:4955161	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 208264363.	NM_053013.4(ENO3):c.618T>C (p.Asn206=) GRCh37: Chr17:4858543 GRCh38: Chr17:4955248	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 208262664.	NM_053013.4(ENO3):c.501G>A (p.Glu167=) GRCh37: Chr17:4858426 GRCh38: Chr17:4955131	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 208015265.	NM_053013.4(ENO3):c.1067+1G>A GRCh37: Chr17:4859439 GRCh38: Chr17:4956144	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 207698166.	NM_053013.4(ENO3):c.570C>T (p.His190=) GRCh37: Chr17:4858495 GRCh38: Chr17:4955200	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 207318667.	NM_053013.4(ENO3):c.1178T>G (p.Ile393Ser) GRCh37: Chr17:4860127 GRCh38: Chr17:4956832	ENO3	I350S, I393S, I402S	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 206816568.	NM_053013.4(ENO3):c.926C>T (p.Ser309Leu) GRCh37: Chr17:4859297 GRCh38: Chr17:4956002	ENO3	S309L, S266L, S318L	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 206771769.	NM_053013.4(ENO3):c.88C>T (p.Arg30Ter) GRCh37: Chr17:4856092 GRCh38: Chr17:4952797	ENO3	R30, R39	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jun 16, 2020)	criteria provided, single submitter
Select item 206725470.	NM_053013.4(ENO3):c.914C>T (p.Thr305Ile) GRCh37: Chr17:4859285 GRCh38: Chr17:4955990	ENO3	T314I, T262I, T305I	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 206336171.	NM_053013.4(ENO3):c.56C>T (p.Thr19Met) GRCh37: Chr17:4855180 GRCh38: Chr17:4951885	ENO3	T19M, T28M	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 206327572.	NM_053013.4(ENO3):c.639C>T (p.Phe213=) GRCh37: Chr17:4858564 GRCh38: Chr17:4955269	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 206188773.	NM_053013.4(ENO3):c.969C>T (p.Thr323=) GRCh37: Chr17:4859340 GRCh38: Chr17:4956045	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 206075974.	NM_053013.4(ENO3):c.209A>G (p.Asn70Ser) GRCh37: Chr17:4856373 GRCh38: Chr17:4953078	ENO3	N70S, N79S	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 205833975.	NM_053013.4(ENO3):c.772G>T (p.Asp258Tyr) GRCh37: Chr17:4858806 GRCh38: Chr17:4955511	ENO3	D258Y, D215Y, D267Y	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 205821576.	NM_053013.4(ENO3):c.726C>T (p.Ile242=) GRCh37: Chr17:4858760 GRCh38: Chr17:4955465	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 205581077.	NM_053013.4(ENO3):c.92T>A (p.Phe31Tyr) GRCh37: Chr17:4856096 GRCh38: Chr17:4952801	ENO3	F31Y, F40Y	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 205505378.	NM_053013.4(ENO3):c.1235+5A>G GRCh37: Chr17:4860189 GRCh38: Chr17:4956894	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 205444379.	NM_053013.4(ENO3):c.1235+19G>A GRCh37: Chr17:4860203 GRCh38: Chr17:4956908	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 205119980.	NM_053013.4(ENO3):c.34T>C (p.Leu12=) GRCh37: Chr17:4855158 GRCh38: Chr17:4951863	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 205082981.	NM_053013.4(ENO3):c.3G>A (p.Met1Ile) GRCh37: Chr17:4855127 GRCh38: Chr17:4951832	ENO3	M10I, M1I	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 205038182.	NM_053013.4(ENO3):c.931G>T (p.Val311Leu) GRCh37: Chr17:4859302 GRCh38: Chr17:4956007	ENO3	V268L, V311L, V320L	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 204957083.	NM_053013.4(ENO3):c.255G>A (p.Val85=) GRCh37: Chr17:4856581 GRCh38: Chr17:4953286	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 204932584.	NM_053013.4(ENO3):c.462C>T (p.Asn154=) GRCh37: Chr17:4858387 GRCh38: Chr17:4955092	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 204817785.	NM_053013.4(ENO3):c.444+13A>G GRCh37: Chr17:4857153 GRCh38: Chr17:4953858	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 204178086.	NM_053013.4(ENO3):c.866-13C>T GRCh37: Chr17:4859224 GRCh38: Chr17:4955929	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 203406487.	NM_053013.4(ENO3):c.240+18C>T GRCh37: Chr17:4856422 GRCh38: Chr17:4953127	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 203261888.	NM_053013.4(ENO3):c.564C>G (p.Val188=) GRCh37: Chr17:4858489 GRCh38: Chr17:4955194	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 202783089.	NM_053013.4(ENO3):c.105G>A (p.Val35=) GRCh37: Chr17:4856109 GRCh38: Chr17:4952814	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202160490.	NM_053013.4(ENO3):c.866-8C>A GRCh37: Chr17:4859229 GRCh38: Chr17:4955934	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 202035791.	NM_053013.4(ENO3):c.182-18A>G GRCh37: Chr17:4856328 GRCh38: Chr17:4953033	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 201636692.	NM_053013.4(ENO3):c.573C>A (p.His191Gln) GRCh37: Chr17:4858498 GRCh38: Chr17:4955203	ENO3	H191Q, H200Q, H148Q	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 201400593.	NM_053013.4(ENO3):c.445-11C>T GRCh37: Chr17:4858359 GRCh38: Chr17:4955064	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 199227294.	NM_053013.4(ENO3):c.1115G>A (p.Arg372His) GRCh37: Chr17:4859915 GRCh38: Chr17:4956620	ENO3	R329H, R372H, R381H	Glycogen storage disease due to muscle beta-enolase deficiency, Inborn genetic diseases	Uncertain significance (Nov 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 199207395.	NM_053013.4(ENO3):c.668-6C>T GRCh37: Chr17:4858696 GRCh38: Chr17:4955401	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 199102096.	NM_053013.4(ENO3):c.181+16C>T GRCh37: Chr17:4856201 GRCh38: Chr17:4952906	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 198918797.	NM_053013.4(ENO3):c.1176+16C>T GRCh37: Chr17:4859992 GRCh38: Chr17:4956697	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 198766998.	NM_053013.4(ENO3):c.1073A>T (p.Lys358Ile) GRCh37: Chr17:4859873 GRCh38: Chr17:4956578	ENO3	K315I, K358I, K367I	Glycogen storage disease due to muscle beta-enolase deficiency	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 198537399.	NM_053013.4(ENO3):c.866-15T>C GRCh37: Chr17:4859222 GRCh38: Chr17:4955927	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 1983291100.	NM_053013.4(ENO3):c.615C>T (p.Thr205=) GRCh37: Chr17:4858540 GRCh38: Chr17:4955245	ENO3		Glycogen storage disease due to muscle beta-enolase deficiency	Likely benign (Mar 11, 2022)	criteria provided, single submitter

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