ClinVar for MedGen (Select 6641) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24403551.	NM_000642.3(AGL):c.3787del (p.Met1263fs) GRCh37: Chr1:100376351 GRCh38: Chr1:99910795	AGL	M1247fs, M1263fs	Glycogen storage disease type III	Likely pathogenic (Dec 19, 2022)	criteria provided, single submitter
Select item 24402782.	NM_000642.3(AGL):c.1113dup (p.Asn372Ter) GRCh37: Chr1:100340739-100340740 GRCh38: Chr1:99875183-99875184	AGL	N356, N372	Glycogen storage disease type III	Likely pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 24402463.	NM_000642.3(AGL):c.3299del (p.Gly1100fs) GRCh37: Chr1:100361878 GRCh38: Chr1:99896322	AGL	G1084fs, G1100fs	Glycogen storage disease type III	Likely pathogenic (Jun 6, 2022)	criteria provided, single submitter
Select item 24389184.	NM_000642.3(AGL):c.1735G>C (p.Glu579Gln) GRCh37: Chr1:100345602 GRCh38: Chr1:99880046	AGL	E563Q, E579Q	Glycogen storage disease type III	Uncertain significance (Mar 6, 2021)	criteria provided, single submitter
Select item 24389175.	NM_000642.3(AGL):c.3757C>T (p.Arg1253Cys) GRCh37: Chr1:100376324 GRCh38: Chr1:99910768	AGL	R1237C, R1253C	Glycogen storage disease type III	Uncertain significance (Jul 25, 2019)	criteria provided, single submitter
Select item 24233416.	NC_000001.10:g.(?_100368229)_(100368360_?)del GRCh37: Chr1:100368229-100368360	AGL		Glycogen storage disease type III	Pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 24233407.	NC_000001.10:g.(?_100380935)_(100382063_?)del GRCh37: Chr1:100380935-100382063	AGL		Glycogen storage disease type III	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 24233398.	NC_000001.10:g.(?_100327039)_(100330165_?)del GRCh37: Chr1:100327039-100330165	AGL		Glycogen storage disease type III	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 24233389.	NC_000001.10:g.(?_100366182)_(100368360_?)del GRCh37: Chr1:100366182-100368360	AGL		Glycogen storage disease type III	Pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 242248010.	NM_000642.3(AGL):c.1735+16T>G GRCh37: Chr1:100345618 GRCh38: Chr1:99880062	AGL		Glycogen storage disease type III	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 242201711.	NM_000642.3(AGL):c.3660G>A (p.Arg1220=) GRCh37: Chr1:100368310 GRCh38: Chr1:99902754	AGL		Glycogen storage disease type III	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 242155212.	NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs) GRCh37: Chr1:100353541-100353542 GRCh38: Chr1:99887985-99887986	AGL	R882fs, R898fs	Glycogen storage disease type III	Pathogenic (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 242115913.	NM_000642.3(AGL):c.3689T>A (p.Met1230Lys) GRCh37: Chr1:100368339 GRCh38: Chr1:99902783	AGL	M1214K, M1230K	Glycogen storage disease type III	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 242037014.	NM_000642.3(AGL):c.4524C>T (p.Ala1508=) GRCh37: Chr1:100387132 GRCh38: Chr1:99921576	AGL		Glycogen storage disease type III	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 241806915.	NM_000642.3(AGL):c.228T>C (p.Asp76=) GRCh37: Chr1:100327204 GRCh38: Chr1:99861648	AGL		Glycogen storage disease type III	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 241740616.	NM_000642.3(AGL):c.2174T>C (p.Val725Ala) GRCh37: Chr1:100347113 GRCh38: Chr1:99881557	AGL	V709A, V725A	Glycogen storage disease type III	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 241585117.	NM_000642.3(AGL):c.1994C>T (p.Pro665Leu) GRCh37: Chr1:100346726 GRCh38: Chr1:99881170	AGL	P649L, P665L	Glycogen storage disease type III	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 241525518.	NM_000642.3(AGL):c.1218T>G (p.Tyr406Ter) GRCh37: Chr1:100340946 GRCh38: Chr1:99875390	AGL	Y390, Y406	Glycogen storage disease type III	Pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 241479419.	NM_000642.3(AGL):c.2219A>C (p.His740Pro) GRCh37: Chr1:100347158 GRCh38: Chr1:99881602	AGL	H724P, H740P	Glycogen storage disease type III	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 220282420.	NM_000642.3(AGL):c.4284T>G (p.Tyr1428Ter) GRCh37: Chr1:100381990 GRCh38: Chr1:99916434	AGL	Y1412, Y1428	Glycogen storage disease type III	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 220282321.	NM_000642.3(AGL):c.3299G>A (p.Gly1100Glu) GRCh37: Chr1:100361881 GRCh38: Chr1:99896325	AGL	G1084E, G1100E	Glycogen storage disease type III	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 220282122.	NM_000642.3(AGL):c.2682-8A>G GRCh37: Chr1:100353526 GRCh38: Chr1:99887970	AGL		Glycogen storage disease type III	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 220281923.	NM_000642.3(AGL):c.655A>G (p.Asn219Asp) GRCh37: Chr1:100330136 GRCh38: Chr1:99864580	AGL	N219D, N203D	Glycogen storage disease type III	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 220281824.	NM_000642.3(AGL):c.518_520dup (p.Tyr173_Ser174insTyr) GRCh37: Chr1:100329996-100329997 GRCh38: Chr1:99864440-99864441	AGL		Glycogen storage disease type III	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 220267725.	NM_000642.3(AGL):c.1919C>T (p.Ala640Val) GRCh37: Chr1:100346651 GRCh38: Chr1:99881095	AGL	A640V, A624V	Glycogen storage disease type III	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 220261226.	NM_000642.3(AGL):c.1690G>A (p.Asp564Asn) GRCh37: Chr1:100345557 GRCh38: Chr1:99880001	AGL	D564N, D548N	Glycogen storage disease type III	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 220257727.	NM_000642.3(AGL):c.1164C>T (p.Leu388=) GRCh37: Chr1:100340791 GRCh38: Chr1:99875235	AGL		Glycogen storage disease type III	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 220251128.	NM_000642.3(AGL):c.3565G>T (p.Ala1189Ser) GRCh37: Chr1:100366394 GRCh38: Chr1:99900838	AGL	A1189S, A1173S	Glycogen storage disease type III	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 220209029.	NM_000642.3(AGL):c.3933C>T (p.Val1311=) GRCh37: Chr1:100378057 GRCh38: Chr1:99912501	AGL		Glycogen storage disease type III	Likely benign (Feb 15, 2022)	criteria provided, single submitter
Select item 220152930.	NM_000642.3(AGL):c.958+11C>T GRCh37: Chr1:100336436 GRCh38: Chr1:99870880	AGL		Glycogen storage disease type III	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 220104331.	NM_000642.3(AGL):c.2707G>T (p.Glu903Ter) GRCh37: Chr1:100353559 GRCh38: Chr1:99888003	AGL	E887, E903	Glycogen storage disease type III	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 219994232.	NM_000642.3(AGL):c.450A>G (p.Ala150=) GRCh37: Chr1:100327969 GRCh38: Chr1:99862413	AGL		Glycogen storage disease type III	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219968933.	NM_000642.3(AGL):c.3700+12T>C GRCh37: Chr1:100368362 GRCh38: Chr1:99902806	AGL		Glycogen storage disease type III	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 219792534.	NM_000642.3(AGL):c.1900-20T>A GRCh37: Chr1:100346612 GRCh38: Chr1:99881056	AGL		Glycogen storage disease type III	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 219759535.	NM_000642.3(AGL):c.3049A>T (p.Thr1017Ser) GRCh37: Chr1:100357261 GRCh38: Chr1:99891705	AGL	T1001S, T1017S	Glycogen storage disease type III	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 219736736.	NM_000642.3(AGL):c.1476A>G (p.Lys492=) GRCh37: Chr1:100343249 GRCh38: Chr1:99877693	AGL		Glycogen storage disease type III	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 219715337.	NM_000642.3(AGL):c.1735+15G>A GRCh37: Chr1:100345617 GRCh38: Chr1:99880061	AGL		Glycogen storage disease type III	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 219714338.	NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser) GRCh37: Chr1:100358077 GRCh38: Chr1:99892521	AGL	I1058S, I1042S	Glycogen storage disease type III, Inborn genetic diseases	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219682439.	NM_000642.3(AGL):c.2149T>C (p.Phe717Leu) GRCh37: Chr1:100346995 GRCh38: Chr1:99881439	AGL	F701L, F717L	Glycogen storage disease type III	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 219634740.	NM_000642.3(AGL):c.4253A>C (p.Asp1418Ala) GRCh37: Chr1:100381036 GRCh38: Chr1:99915480	AGL	D1402A, D1418A	Glycogen storage disease type III	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 219620141.	NM_000642.3(AGL):c.1912T>C (p.Tyr638His) GRCh37: Chr1:100346644 GRCh38: Chr1:99881088	AGL	Y622H, Y638H	Glycogen storage disease type III, not provided	Uncertain significance (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219590342.	NM_000642.3(AGL):c.1549G>C (p.Ala517Pro) GRCh37: Chr1:100343322 GRCh38: Chr1:99877766	AGL	A517P, A501P	Glycogen storage disease type III	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 219528443.	NM_000642.3(AGL):c.3525C>T (p.Leu1175=) GRCh37: Chr1:100366354 GRCh38: Chr1:99900798	AGL		Glycogen storage disease type III	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 219431844.	NM_000642.3(AGL):c.82+11A>C GRCh37: Chr1:100316691 GRCh38: Chr1:99851135	AGL		Glycogen storage disease type III	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 219147545.	NM_000642.3(AGL):c.1758T>C (p.Ser586=) GRCh37: Chr1:100346210 GRCh38: Chr1:99880654	AGL		Glycogen storage disease type III	Conflicting interpretations of pathogenicity (Feb 8, 2022)	criteria provided, conflicting interpretations
Select item 219028546.	NM_000642.3(AGL):c.3446A>G (p.Asn1149Ser) GRCh37: Chr1:100366275 GRCh38: Chr1:99900719	AGL	N1133S, N1149S	Glycogen storage disease type III	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 218847547.	NM_000642.3(AGL):c.3071A>G (p.Lys1024Arg) GRCh37: Chr1:100357283 GRCh38: Chr1:99891727	AGL	K1008R, K1024R	Glycogen storage disease type III	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 218371748.	NM_000642.3(AGL):c.3921T>G (p.Pro1307=) GRCh37: Chr1:100378045 GRCh38: Chr1:99912489	AGL		Glycogen storage disease type III	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 218327449.	NM_000642.3(AGL):c.1900-13T>C GRCh37: Chr1:100346619 GRCh38: Chr1:99881063	AGL		Glycogen storage disease type III	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 218318950.	NM_000642.3(AGL):c.1395T>G (p.Asp465Glu) GRCh37: Chr1:100342125 GRCh38: Chr1:99876569	AGL	D449E, D465E	Glycogen storage disease type III	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 218307751.	NM_000642.3(AGL):c.214G>C (p.Glu72Gln) GRCh37: Chr1:100327190 GRCh38: Chr1:99861634	AGL	E72Q, E56Q	Glycogen storage disease type III	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 218189452.	NM_000642.3(AGL):c.1432G>C (p.Val478Leu) GRCh37: Chr1:100343205 GRCh38: Chr1:99877649	AGL	V478L, V462L	Glycogen storage disease type III	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 218168353.	NM_000642.3(AGL):c.3837-19A>G GRCh37: Chr1:100377942 GRCh38: Chr1:99912386	AGL		Glycogen storage disease type III	Uncertain significance (Jan 23, 2022)	criteria provided, single submitter
Select item 218153554.	NM_000642.3(AGL):c.3622A>G (p.Met1208Val) GRCh37: Chr1:100368272 GRCh38: Chr1:99902716	AGL	M1192V, M1208V	Glycogen storage disease type III	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 218137955.	NM_000642.3(AGL):c.294-18T>C GRCh37: Chr1:100327795 GRCh38: Chr1:99862239	AGL		Glycogen storage disease type III	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 218077756.	NM_000642.3(AGL):c.3846T>C (p.Ser1282=) GRCh37: Chr1:100377970 GRCh38: Chr1:99912414	AGL		Glycogen storage disease type III	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 217998457.	NM_000642.3(AGL):c.1082+17T>C GRCh37: Chr1:100340383 GRCh38: Chr1:99874827	AGL		Glycogen storage disease type III	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 217953258.	NM_000642.3(AGL):c.4449T>C (p.Asn1483=) GRCh37: Chr1:100382255 GRCh38: Chr1:99916699	AGL		Glycogen storage disease type III	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 217848059.	NM_000642.3(AGL):c.975C>G (p.Thr325=) GRCh37: Chr1:100340259 GRCh38: Chr1:99874703	AGL		Glycogen storage disease type III	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 217838460.	NM_000642.3(AGL):c.4386A>G (p.Lys1462=) GRCh37: Chr1:100382192 GRCh38: Chr1:99916636	AGL		Glycogen storage disease type III	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 217822661.	NM_000642.3(AGL):c.847-11A>G GRCh37: Chr1:100336303 GRCh38: Chr1:99870747	AGL		Glycogen storage disease type III	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 217776762.	NM_000642.3(AGL):c.3349T>C (p.Tyr1117His) GRCh37: Chr1:100361931 GRCh38: Chr1:99896375	AGL	Y1117H, Y1101H	Glycogen storage disease type III	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 217739963.	NM_000642.3(AGL):c.4075C>T (p.Arg1359Cys) GRCh37: Chr1:100379208 GRCh38: Chr1:99913652	AGL	R1359C, R1343C	Glycogen storage disease type III	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 217664764.	NM_000642.3(AGL):c.894_895delinsTG (p.Trp299Gly) GRCh37: Chr1:100336361-100336362 GRCh38: Chr1:99870805-99870806	AGL	W283G, W299G	Glycogen storage disease type III	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 217592765.	NM_000642.3(AGL):c.2659A>G (p.Ile887Val) GRCh37: Chr1:100350237 GRCh38: Chr1:99884681	AGL	I887V, I871V	Inborn genetic diseases, Glycogen storage disease type III	Uncertain significance (Dec 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217592066.	NM_000642.3(AGL):c.2842C>T (p.Pro948Ser) GRCh37: Chr1:100356805 GRCh38: Chr1:99891249	AGL	P948S, P932S	Glycogen storage disease type III	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 217547567.	NM_000642.3(AGL):c.3727G>A (p.Glu1243Lys) GRCh37: Chr1:100376294 GRCh38: Chr1:99910738	AGL	E1227K, E1243K	Glycogen storage disease type III	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 217337668.	NM_000642.3(AGL):c.3479G>A (p.Cys1160Tyr) GRCh37: Chr1:100366308 GRCh38: Chr1:99900752	AGL	C1160Y, C1144Y	Glycogen storage disease type III	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 217335169.	NM_000642.3(AGL):c.1800T>G (p.Pro600=) GRCh37: Chr1:100346252 GRCh38: Chr1:99880696	AGL		Glycogen storage disease type III	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 217205170.	NM_000642.3(AGL):c.3422G>A (p.Gly1141Asp) GRCh37: Chr1:100366251 GRCh38: Chr1:99900695	AGL	G1141D, G1125D	Glycogen storage disease type III	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 217107471.	NM_000642.3(AGL):c.3640G>A (p.Gly1214Ser) GRCh37: Chr1:100368290 GRCh38: Chr1:99902734	AGL	G1198S, G1214S	Glycogen storage disease type III	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 217102972.	NM_000642.3(AGL):c.4327T>C (p.Phe1443Leu) GRCh37: Chr1:100382033 GRCh38: Chr1:99916477	AGL	F1443L, F1427L	Glycogen storage disease type III	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 217053773.	NM_000642.3(AGL):c.3669T>C (p.Gly1223=) GRCh37: Chr1:100368319 GRCh38: Chr1:99902763	AGL		Glycogen storage disease type III	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 216810474.	NM_000642.3(AGL):c.2752G>A (p.Asp918Asn) GRCh37: Chr1:100353604 GRCh38: Chr1:99888048	AGL	D902N, D918N	Glycogen storage disease type III	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 216708875.	NM_000642.3(AGL):c.3363-13T>C GRCh37: Chr1:100366179 GRCh38: Chr1:99900623	AGL		Glycogen storage disease type III	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 216679176.	NM_000642.3(AGL):c.89A>G (p.Glu30Gly) GRCh37: Chr1:100327065 GRCh38: Chr1:99861509	AGL	E14G, E30G	Glycogen storage disease type III	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 216643277.	NM_000642.3(AGL):c.2121A>G (p.Lys707=) GRCh37: Chr1:100346967 GRCh38: Chr1:99881411	AGL		Glycogen storage disease type III	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 216617378.	NM_000642.3(AGL):c.3681T>C (p.Asp1227=) GRCh37: Chr1:100368331 GRCh38: Chr1:99902775	AGL		Glycogen storage disease type III	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 216518279.	NM_000642.3(AGL):c.1138G>A (p.Glu380Lys) GRCh37: Chr1:100340765 GRCh38: Chr1:99875209	AGL	E380K, E364K	Glycogen storage disease type III	Uncertain significance (Oct 31, 2021)	criteria provided, single submitter
Select item 216508680.	NM_000642.3(AGL):c.480T>C (p.Phe160=) GRCh37: Chr1:100329961 GRCh38: Chr1:99864405	AGL		Glycogen storage disease type III	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 216444181.	NM_000642.3(AGL):c.1424-13C>T GRCh37: Chr1:100343184 GRCh38: Chr1:99877628	AGL		Glycogen storage disease type III	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216436482.	NM_000642.3(AGL):c.3361A>G (p.Arg1121Gly) GRCh37: Chr1:100361943 GRCh38: Chr1:99896387	AGL	R1121G, R1105G	Glycogen storage disease type III	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 216423883.	NM_000642.3(AGL):c.833A>G (p.Asp278Gly) GRCh37: Chr1:100336124 GRCh38: Chr1:99870568	AGL	D262G, D278G	Inborn genetic diseases, Glycogen storage disease type III	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216415584.	NM_000642.3(AGL):c.1185+11T>C GRCh37: Chr1:100340823 GRCh38: Chr1:99875267	AGL		Glycogen storage disease type III	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 216380885.	NM_000642.3(AGL):c.291A>G (p.Gln97=) GRCh37: Chr1:100327267 GRCh38: Chr1:99861711	AGL		Glycogen storage disease type III	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 216257686.	NM_000642.3(AGL):c.2002-6G>T GRCh37: Chr1:100346842 GRCh38: Chr1:99881286	AGL		Glycogen storage disease type III	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 216196487.	NM_000642.3(AGL):c.409T>C (p.Leu137=) GRCh37: Chr1:100327928 GRCh38: Chr1:99862372	AGL		Glycogen storage disease type III	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 216194588.	NM_000642.3(AGL):c.1543A>C (p.Ile515Leu) GRCh37: Chr1:100343316 GRCh38: Chr1:99877760	AGL	I499L, I515L	Glycogen storage disease type III	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 216031789.	NM_000642.3(AGL):c.4525del (p.Gln1509fs) GRCh37: Chr1:100387131 GRCh38: Chr1:99921575	AGL	Q1493fs, Q1509fs	Glycogen storage disease type III	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 216025890.	NM_000642.3(AGL):c.2235T>G (p.Ala745=) GRCh37: Chr1:100347174 GRCh38: Chr1:99881618	AGL		Glycogen storage disease type III	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 216000891.	NM_000642.3(AGL):c.3730G>A (p.Glu1244Lys) GRCh37: Chr1:100376297 GRCh38: Chr1:99910741	AGL	E1244K, E1228K	Glycogen storage disease type III	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 215946092.	NM_000642.3(AGL):c.326T>C (p.Val109Ala) GRCh37: Chr1:100327845 GRCh38: Chr1:99862289	AGL	V93A, V109A	Glycogen storage disease type III	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 215925093.	NM_000642.3(AGL):c.3001T>A (p.Tyr1001Asn) GRCh37: Chr1:100357213 GRCh38: Chr1:99891657	AGL	Y985N, Y1001N	Glycogen storage disease type III	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 215842894.	NM_000642.3(AGL):c.1761T>C (p.His587=) GRCh37: Chr1:100346213 GRCh38: Chr1:99880657	AGL		Glycogen storage disease type III	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 215757995.	NM_000642.3(AGL):c.1489A>G (p.Asn497Asp) GRCh37: Chr1:100343262 GRCh38: Chr1:99877706	AGL	N481D, N497D	Glycogen storage disease type III	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 215755496.	NM_000642.3(AGL):c.1790G>A (p.Gly597Glu) GRCh37: Chr1:100346242 GRCh38: Chr1:99880686	AGL	G597E, G581E	Glycogen storage disease type III	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 215662197.	NM_000642.3(AGL):c.3995A>C (p.Gln1332Pro) GRCh37: Chr1:100379128 GRCh38: Chr1:99913572	AGL	Q1316P, Q1332P	Glycogen storage disease type III	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 215628598.	NM_000642.3(AGL):c.1119G>T (p.Trp373Cys) GRCh37: Chr1:100340746 GRCh38: Chr1:99875190	AGL	W357C, W373C	Glycogen storage disease type III	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 215593999.	NM_000642.3(AGL):c.1918G>T (p.Ala640Ser) GRCh37: Chr1:100346650 GRCh38: Chr1:99881094	AGL	A624S, A640S	Glycogen storage disease type III	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 2155472100.	NM_000642.3(AGL):c.1267C>T (p.His423Tyr) GRCh37: Chr1:100340995 GRCh38: Chr1:99875439	AGL	H407Y, H423Y	Glycogen storage disease type III	Uncertain significance (May 27, 2022)	criteria provided, single submitter

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