ClinVar for MedGen (Select 462104) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 22003361.	NM_004130.4(GYG1):c.769G>A (p.Val257Ile) GRCh37: Chr3:148742000 GRCh38: Chr3:149024213	GYG1	V257I	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 21978832.	NM_004130.4(GYG1):c.1036G>T (p.Asp346Tyr) GRCh37: Chr3:148744703 GRCh38: Chr3:149026916	GYG1	D346Y, L255F, D329Y	Inborn genetic diseases, Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21960523.	NM_004130.4(GYG1):c.183A>G (p.Val61=) GRCh37: Chr3:148714128 GRCh38: Chr3:148996341	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 21954784.	NM_004130.4(GYG1):c.332T>C (p.Ile111Thr) GRCh37: Chr3:148714542 GRCh38: Chr3:148996755	GYG1	I111T	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 21862675.	NM_004130.4(GYG1):c.429T>C (p.Val143=) GRCh37: Chr3:148714639 GRCh38: Chr3:148996852	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 21834866.	NM_004130.4(GYG1):c.880G>C (p.Glu294Gln) GRCh37: Chr3:148744547 GRCh38: Chr3:149026760	GYG1	E294Q, E277Q	Inborn genetic diseases, Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (May 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21727877.	NM_004130.4(GYG1):c.672T>C (p.Tyr224=) GRCh37: Chr3:148741903 GRCh38: Chr3:149024116	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 21727648.	NM_004130.4(GYG1):c.482G>A (p.Gly161Asp) GRCh37: Chr3:148727063 GRCh38: Chr3:149009276	GYG1	G161D	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 21696179.	NM_004130.4(GYG1):c.7+17C>G GRCh37: Chr3:148709451 GRCh38: Chr3:148991664	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 216319210.	NM_004130.4(GYG1):c.597G>A (p.Pro199=) GRCh37: Chr3:148727178 GRCh38: Chr3:149009391	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 216275411.	NM_004130.4(GYG1):c.916G>T (p.Gly306Trp) GRCh37: Chr3:148744583 GRCh38: Chr3:149026796	GYG1	L215F, G306W, G289W	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 215930812.	NM_004130.4(GYG1):c.375C>T (p.Asp125=) GRCh37: Chr3:148714585 GRCh38: Chr3:148996798	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 215322713.	NM_004130.4(GYG1):c.880-7T>C GRCh37: Chr3:148744540 GRCh38: Chr3:149026753	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 214674114.	NM_004130.4(GYG1):c.491A>G (p.Gln164Arg) GRCh37: Chr3:148727072 GRCh38: Chr3:149009285	GYG1	Q164R	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 214517115.	NM_004130.4(GYG1):c.633G>A (p.Val211=) GRCh37: Chr3:148741864 GRCh38: Chr3:149024077	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 214086716.	NM_004130.4(GYG1):c.609-13G>A GRCh37: Chr3:148741827 GRCh38: Chr3:149024040	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 213075217.	NM_004130.4(GYG1):c.318+20T>G GRCh37: Chr3:148714283 GRCh38: Chr3:148996496	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 212973818.	NM_004130.4(GYG1):c.597G>T (p.Pro199=) GRCh37: Chr3:148727178 GRCh38: Chr3:149009391	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 212524619.	NM_004130.4(GYG1):c.501G>A (p.Leu167=) GRCh37: Chr3:148727082 GRCh38: Chr3:149009295	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 211382620.	NM_004130.4(GYG1):c.953C>T (p.Ser318Leu) GRCh37: Chr3:148744620 GRCh38: Chr3:149026833	GYG1	R228W, S301L, S318L	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 209392821.	NM_004130.4(GYG1):c.56C>T (p.Ala19Val) GRCh37: Chr3:148711977 GRCh38: Chr3:148994190	GYG1	A19V	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 208763822.	NM_004130.4(GYG1):c.879+14A>G GRCh37: Chr3:148744303 GRCh38: Chr3:149026516	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 208426723.	NM_004130.4(GYG1):c.318+6T>A GRCh37: Chr3:148714269 GRCh38: Chr3:148996482	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 208138524.	NC_000003.11:g.148714528del GRCh37: Chr3:148714528 GRCh38: Chr3:148996741	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 207955325.	NM_004130.4(GYG1):c.251T>C (p.Leu84Pro) GRCh37: Chr3:148714196 GRCh38: Chr3:148996409	GYG1	L84P	Inborn genetic diseases, Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207931126.	NM_004130.4(GYG1):c.272C>T (p.Ser91Leu) GRCh37: Chr3:148714217 GRCh38: Chr3:148996430	GYG1	S91L	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 207701627.	NM_004130.4(GYG1):c.411C>T (p.Phe137=) GRCh37: Chr3:148714621 GRCh38: Chr3:148996834	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 207647028.	NM_004130.4(GYG1):c.851T>G (p.Leu284Arg) GRCh37: Chr3:148744261 GRCh38: Chr3:149026474	GYG1	L284R	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 206402829.	NM_004130.4(GYG1):c.8-13T>C GRCh37: Chr3:148711916 GRCh38: Chr3:148994129	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 206249030.	NM_004130.4(GYG1):c.440A>G (p.Asn147Ser) GRCh37: Chr3:148714650 GRCh38: Chr3:148996863	GYG1	N147S	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 205260631.	NM_004130.4(GYG1):c.954G>A (p.Ser318=) GRCh37: Chr3:148744621 GRCh38: Chr3:149026834	GYG1	R228Q	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 205212532.	NM_004130.4(GYG1):c.875G>C (p.Arg292Thr) GRCh37: Chr3:148744285 GRCh38: Chr3:149026498	GYG1	R292T	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 205090433.	NM_004130.4(GYG1):c.115G>A (p.Ala39Thr) GRCh37: Chr3:148712036 GRCh38: Chr3:148994249	GYG1	A39T	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 204834134.	NM_004130.4(GYG1):c.352_353del (p.Glu118fs) GRCh37: Chr3:148714559-148714560 GRCh38: Chr3:148996772-148996773	GYG1	E118fs	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Pathogenic (Aug 26, 2022)	criteria provided, single submitter
Select item 204593635.	NM_004130.4(GYG1):c.82C>T (p.Gln28Ter) GRCh37: Chr3:148712003 GRCh38: Chr3:148994216	GYG1	Q28*	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 204180236.	NM_004130.4(GYG1):c.896C>T (p.Ala299Val) GRCh37: Chr3:148744563 GRCh38: Chr3:149026776	GYG1	A282V, P209S, A299V	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 203299337.	NM_004130.4(GYG1):c.829-9T>C GRCh37: Chr3:148744230 GRCh38: Chr3:149026443	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202372438.	NM_004130.4(GYG1):c.668C>T (p.Thr223Ile) GRCh37: Chr3:148741899 GRCh38: Chr3:149024112	GYG1	T223I	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 202357239.	NM_004130.4(GYG1):c.261C>T (p.Leu87=) GRCh37: Chr3:148714206 GRCh38: Chr3:148996419	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 202092340.	NM_004130.4(GYG1):c.934_942del (p.Ala312_Pro314del) GRCh37: Chr3:148744600-148744608 GRCh38: Chr3:149026813-149026821	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 201470441.	NM_004130.4(GYG1):c.901T>C (p.Ser301Pro) GRCh37: Chr3:148744568 GRCh38: Chr3:149026781	GYG1	S284P, S301P	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 200759542.	NM_004130.4(GYG1):c.844dup (p.Tyr282fs) GRCh37: Chr3:148744253-148744254 GRCh38: Chr3:149026466-149026467	GYG1	Y282fs	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 199014643.	NM_004130.4(GYG1):c.529A>G (p.Thr177Ala) GRCh37: Chr3:148727110 GRCh38: Chr3:149009323	GYG1	T177A	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 198289744.	NM_004130.4(GYG1):c.971G>A (p.Arg324Gln) GRCh37: Chr3:148744638 GRCh38: Chr3:149026851	GYG1	D234N, R324Q, R307Q	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 198268045.	NM_004130.4(GYG1):c.820G>A (p.Val274Ile) GRCh37: Chr3:148742051 GRCh38: Chr3:149024264	GYG1	V274I	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 197775146.	NM_004130.4(GYG1):c.160G>T (p.Val54Phe) GRCh37: Chr3:148714105 GRCh38: Chr3:148996318	GYG1	V54F	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 195560247.	NM_004130.4(GYG1):c.810C>G (p.Thr270=) GRCh37: Chr3:148742041 GRCh38: Chr3:149024254	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 195366648.	NM_004130.4(GYG1):c.880-19A>G GRCh37: Chr3:148744528 GRCh38: Chr3:149026741	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 195305449.	NM_004130.4(GYG1):c.112C>T (p.Leu38Phe) GRCh37: Chr3:148712033 GRCh38: Chr3:148994246	GYG1	L38F	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 194756950.	NM_004130.4(GYG1):c.752A>T (p.Asn251Ile) GRCh37: Chr3:148741983 GRCh38: Chr3:149024196	GYG1	N251I	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 194663651.	NM_004130.4(GYG1):c.10C>T (p.Gln4Ter) GRCh37: Chr3:148711931 GRCh38: Chr3:148994144	GYG1	Q4*	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 194493752.	NM_004130.4(GYG1):c.442C>A (p.Gln148Lys) GRCh37: Chr3:148714652 GRCh38: Chr3:148996865	GYG1	Q148K	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 194373753.	NM_004130.4(GYG1):c.609-11T>A GRCh37: Chr3:148741829 GRCh38: Chr3:149024042	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 194127454.	NM_004130.4(GYG1):c.5C>G (p.Thr2Arg) GRCh37: Chr3:148709432 GRCh38: Chr3:148991645	GYG1	T2R	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 193855555.	NM_004130.4(GYG1):c.143+3G>T GRCh37: Chr3:148712067 GRCh38: Chr3:148994280	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 193775256.	NM_004130.4(GYG1):c.828+9T>C GRCh37: Chr3:148742068 GRCh38: Chr3:149024281	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 193554557.	NM_004130.4(GYG1):c.273G>A (p.Ser91=) GRCh37: Chr3:148714218 GRCh38: Chr3:148996431	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 193484758.	NM_004130.4(GYG1):c.607G>A (p.Val203Met) GRCh37: Chr3:148727188 GRCh38: Chr3:149009401	GYG1	V203M	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 191016359.	NM_004130.4(GYG1):c.599C>T (p.Ala200Val) GRCh37: Chr3:148727180 GRCh38: Chr3:149009393	GYG1	A200V	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 190654660.	NM_004130.4(GYG1):c.143+19C>A GRCh37: Chr3:148712083 GRCh38: Chr3:148994296	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 190628861.	NM_004130.4(GYG1):c.683del (p.Thr228fs) GRCh37: Chr3:148741914 GRCh38: Chr3:149024127	GYG1	T228fs	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 189732062.	NM_004130.4(GYG1):c.615T>G (p.Gly205=) GRCh37: Chr3:148741846 GRCh38: Chr3:149024059	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 189731963.	NM_004130.4(GYG1):c.609-10C>T GRCh37: Chr3:148741830 GRCh38: Chr3:149024043	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 187959464.	NM_004130.4(GYG1):c.646C>T (p.Arg216Ter) GRCh37: Chr3:148741877 GRCh38: Chr3:149024090	GYG1	R216*	Glycogen storage disease XV, Polyglucosan body myopathy type 2, not provided	Pathogenic (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171363865.	NM_004130.4(GYG1):c.750G>T (p.Trp250Cys) GRCh37: Chr3:148741981 GRCh38: Chr3:149024194	GYG1	W250C	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 169624466.	NM_004130.4(GYG1):c.788A>C (p.Gln263Pro) GRCh37: Chr3:148742019 GRCh38: Chr3:149024232	GYG1	Q263P	Glycogen storage disease XV, Polyglucosan body myopathy type 2, not specified	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165941967.	NM_004130.4(GYG1):c.499C>T (p.Leu167=) GRCh37: Chr3:148727080 GRCh38: Chr3:149009293	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Benign (Apr 18, 2022)	criteria provided, single submitter
Select item 164787868.	NM_004130.4(GYG1):c.482-14T>A GRCh37: Chr3:148727049 GRCh38: Chr3:149009262	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Jun 1, 2021)	criteria provided, single submitter
Select item 164050869.	NM_004130.4(GYG1):c.129C>T (p.Val43=) GRCh37: Chr3:148712050 GRCh38: Chr3:148994263	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 163243270.	NM_004130.4(GYG1):c.46G>A (p.Ala16Thr) GRCh37: Chr3:148711967 GRCh38: Chr3:148994180	GYG1	A16T	not provided, Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162292071.	NM_004130.4(GYG1):c.144-19C>A GRCh37: Chr3:148714070 GRCh38: Chr3:148996283	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 161996872.	NM_004130.4(GYG1):c.879+16A>G GRCh37: Chr3:148744305 GRCh38: Chr3:149026518	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Dec 1, 2021)	criteria provided, single submitter
Select item 161836173.	NM_004130.4(GYG1):c.60G>T (p.Leu20=) GRCh37: Chr3:148711981 GRCh38: Chr3:148994194	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Aug 1, 2021)	criteria provided, single submitter
Select item 161399774.	NM_004130.4(GYG1):c.294T>C (p.Cys98=) GRCh37: Chr3:148714239 GRCh38: Chr3:148996452	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Oct 29, 2021)	criteria provided, single submitter
Select item 161335175.	NM_004130.4(GYG1):c.309A>G (p.Ala103=) GRCh37: Chr3:148714254 GRCh38: Chr3:148996467	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 160855076.	NM_004130.4(GYG1):c.174C>T (p.Val58=) GRCh37: Chr3:148714119 GRCh38: Chr3:148996332	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Oct 6, 2021)	criteria provided, single submitter
Select item 159845777.	NM_004130.4(GYG1):c.249G>A (p.Thr83=) GRCh37: Chr3:148714194 GRCh38: Chr3:148996407	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 159697978.	NM_004130.4(GYG1):c.252G>A (p.Leu84=) GRCh37: Chr3:148714197 GRCh38: Chr3:148996410	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 158429879.	NM_004130.4(GYG1):c.829-13G>A GRCh37: Chr3:148744226 GRCh38: Chr3:149026439	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Benign (Aug 26, 2022)	criteria provided, single submitter
Select item 157980580.	NM_004130.4(GYG1):c.609-16T>C GRCh37: Chr3:148741824 GRCh38: Chr3:149024037	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 156003581.	NM_004130.4(GYG1):c.143+12G>A GRCh37: Chr3:148712076 GRCh38: Chr3:148994289	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Apr 23, 2021)	criteria provided, single submitter
Select item 155231882.	NM_004130.4(GYG1):c.829-17T>C GRCh37: Chr3:148744222 GRCh38: Chr3:149026435	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Apr 19, 2021)	criteria provided, single submitter
Select item 155208683.	NM_004130.4(GYG1):c.1002A>C (p.Gly334=) GRCh37: Chr3:148744669 GRCh38: Chr3:149026882	GYG1	E244A	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Nov 19, 2021)	criteria provided, single submitter
Select item 154975984.	NM_004130.4(GYG1):c.996T>C (p.Tyr332=) GRCh37: Chr3:148744663 GRCh38: Chr3:149026876	GYG1	I242T	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Oct 13, 2021)	criteria provided, single submitter
Select item 154973385.	NM_004130.4(GYG1):c.663T>C (p.Asn221=) GRCh37: Chr3:148741894 GRCh38: Chr3:149024107	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 154827386.	NM_004130.4(GYG1):c.319-19C>G GRCh37: Chr3:148714510 GRCh38: Chr3:148996723	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 154762587.	NM_004130.4(GYG1):c.942G>A (p.Pro314=) GRCh37: Chr3:148744609 GRCh38: Chr3:149026822	GYG1	R224H	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 154608888.	NM_004130.4(GYG1):c.918G>A (p.Gly306=) GRCh37: Chr3:148744585 GRCh38: Chr3:149026798	GYG1	G216E	Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 153985589.	NM_004130.4(GYG1):c.8-15T>C GRCh37: Chr3:148711914 GRCh38: Chr3:148994127	GYG1		Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Jul 4, 2021)	criteria provided, single submitter
Select item 153234390.	NM_004130.4(GYG1):c.1005A>C (p.Ala335=) GRCh37: Chr3:148744672 GRCh38: Chr3:149026885	GYG1	Q245P	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Likely benign (Feb 17, 2021)	criteria provided, single submitter
Select item 152452391.	NM_004130.4(GYG1):c.284A>G (p.Tyr95Cys) GRCh37: Chr3:148714229 GRCh38: Chr3:148996442	GYG1	Y95C	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 152117892.	NM_004130.4(GYG1):c.203A>G (p.Asp68Gly) GRCh37: Chr3:148714148 GRCh38: Chr3:148996361	GYG1	D68G	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 151887093.	NM_004130.4(GYG1):c.1009T>A (p.Ser337Thr) GRCh37: Chr3:148744676 GRCh38: Chr3:149026889	GYG1	S320T, S337T	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Oct 4, 2021)	criteria provided, single submitter
Select item 151679294.	NM_004130.4(GYG1):c.481+2T>C GRCh37: Chr3:148714693 GRCh38: Chr3:148996906	GYG1		Polyglucosan body myopathy type 2, Glycogen storage disease XV	Likely pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 151293995.	NM_004130.4(GYG1):c.755T>C (p.Ile252Thr) GRCh37: Chr3:148741986 GRCh38: Chr3:149024199	GYG1	I252T	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 150852996.	NM_004130.4(GYG1):c.2T>A (p.Met1Lys) GRCh37: Chr3:148709429 GRCh38: Chr3:148991642	GYG1	M1K	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 150118997.	NM_004130.4(GYG1):c.124C>A (p.Gln42Lys) GRCh37: Chr3:148712045 GRCh38: Chr3:148994258	GYG1	Q42K	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 149624598.	NM_004130.4(GYG1):c.764C>T (p.Thr255Ile) GRCh37: Chr3:148741995 GRCh38: Chr3:149024208	GYG1	T255I	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 149205499.	NM_004130.4(GYG1):c.36C>G (p.Asn12Lys) GRCh37: Chr3:148711957 GRCh38: Chr3:148994170	GYG1	N12K	Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 1489560100.	NM_004130.4(GYG1):c.647G>A (p.Arg216Gln) GRCh37: Chr3:148741878 GRCh38: Chr3:149024091	GYG1	R216Q	Inborn genetic diseases, Glycogen storage disease XV, Polyglucosan body myopathy type 2	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts

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