ClinVar for MedGen (Select 369842) - ClinVar

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Items: 20

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6353191.	NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr) GRCh37: Chr1:100368327 GRCh38: Chr1:99902771	AGL	I1226T, I1210T	Glycogen storage disease type III, Glycogen storage disease IIIa	Uncertain significance (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6353182.	NM_000642.3(AGL):c.2113A>G (p.Ile705Val) GRCh37: Chr1:100346959 GRCh38: Chr1:99881403	AGL	I705V, I689V	Glycogen storage disease IIIa	Uncertain significance (May 15, 2019)	criteria provided, single submitter
Select item 6352923.	NM_000642.3(AGL):c.1083-2A>G GRCh37: Chr1:100340708 GRCh38: Chr1:99875152	AGL		Glycogen storage disease IIIa	Pathogenic (May 16, 2019)	criteria provided, single submitter
Select item 6352914.	NM_000642.3(AGL):c.3837-1G>A GRCh37: Chr1:100377960 GRCh38: Chr1:99912404	AGL		Glycogen storage disease IIIa	Pathogenic (May 15, 2019)	criteria provided, single submitter
Select item 6352905.	NM_000642.3(AGL):c.2950-2A>G GRCh37: Chr1:100357160 GRCh38: Chr1:99891604	AGL		Glycogen storage disease IIIa	Pathogenic (May 15, 2019)	criteria provided, single submitter
Select item 6352896.	NM_000642.3(AGL):c.847-3C>A GRCh37: Chr1:100336311 GRCh38: Chr1:99870755	AGL		Glycogen storage disease IIIa	Uncertain significance (May 15, 2019)	criteria provided, single submitter
Select item 6330327.	NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) GRCh37: Chr1:100342135 GRCh38: Chr1:99876579	AGL	R469, R453	Glycogen storage disease IIIa, Glycogen storage disease type III	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4320088.	NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) GRCh37: Chr1:100358118-100358119 GRCh38: Chr1:99892562-99892563	AGL	E1056fs, E1072fs	Glycogen storage disease IIIa, not provided, Glycogen storage disease type III	Pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1962869.	NM_000642.3(AGL):c.256C>T (p.Gln86Ter) GRCh37: Chr1:100327232 GRCh38: Chr1:99861676	AGL	Q86, Q70	not provided, Glycogen storage disease IIIa, Glycogen storage disease type III	Pathogenic/Likely pathogenic (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18899410.	NM_000642.3(AGL):c.664+3A>G GRCh37: Chr1:100330148 GRCh38: Chr1:99864592	AGL		Glycogen storage disease IIIa, Glycogen storage disease type III	Pathogenic/Likely pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18880411.	NM_000642.3(AGL):c.2309-1G>A GRCh37: Chr1:100349675 GRCh38: Chr1:99884119	AGL		Glycogen storage disease IIIa, Glycogen storage disease type III	Pathogenic/Likely pathogenic (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110812.	NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) GRCh37: Chr1:100379113 GRCh38: Chr1:99913557	AGL	W1327, W1311	not provided, Glycogen storage disease type III	Pathogenic (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110613.	NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) GRCh37: Chr1:100340950 GRCh38: Chr1:99875394	AGL	R408, R392	Glycogen storage disease IIIa, not provided, Glycogen storage disease type III	Pathogenic (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110314.	NM_000642.3(AGL):c.3965del (p.Val1322fs) GRCh37: Chr1:100379098 GRCh38: Chr1:99913542	AGL	V1306fs, V1322fs	not provided, Glycogen storage disease type III	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110215.	NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg) GRCh37: Chr1:100382048 GRCh38: Chr1:99916492	AGL	G1448R, G1432R	Glycogen storage disease IIIa	Pathogenic (Oct 1, 2007)	no assertion criteria provided
Select item 110116.	AGL, EcoRI FRAGMENT INS	AGL		Glycogen storage disease IIIa	Pathogenic (Jul 16, 1996)	no assertion criteria provided
Select item 110017.	NM_000642.3(AGL):c.1735+1G>T GRCh37: Chr1:100345603 GRCh38: Chr1:99880047	AGL		Glycogen storage disease type III	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109918.	NM_000642.3(AGL):c.4260-12A>G GRCh37: Chr1:100381954 GRCh38: Chr1:99916398	AGL		not provided, Glycogen storage disease type III	Pathogenic/Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109819.	NM_000642.3(AGL):c.4456del (p.Ser1486fs) GRCh37: Chr1:100382260 GRCh38: Chr1:99916704	AGL	S1470fs, S1486fs	not provided, Glycogen storage disease type III	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109420.	NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) GRCh37: Chr1:100387136-100387137 GRCh38: Chr1:99921580-99921581	AGL	Y1510, Y1494	Inborn genetic diseases, Glycogen storage disease IIIa, Glycogen storage disease type III	Pathogenic/Likely pathogenic (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 20