ClinVar for MedGen (Select 5340) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25028941.	NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr) GRCh37: Chr17:78085818 GRCh38: Chr17:80112019	GAA	C558Y	Glycogen storage disease, type II	Likely pathogenic (May 25, 2023)	criteria provided, single submitter
Select item 25010472.	NM_000152.5(GAA):c.2066_2069del (p.Glu689fs) GRCh37: Chr17:78087042-78087045 GRCh38: Chr17:80113243-80113246	GAA	E689fs	Glycogen storage disease, type II	Pathogenic (Mar 28, 2023)	criteria provided, single submitter
Select item 25010463.	NC_000017.10:g.(78091549_78091991)_(78092157_78092451)del GRCh37: Chr17:78091549-78092451	GAA		Glycogen storage disease, type II	Pathogenic (Mar 15, 2023)	criteria provided, single submitter
Select item 24464614.	NM_000152.5(GAA):c.40_47del (p.Ala14fs) GRCh37: Chr17:78078422-78078429 GRCh38: Chr17:80104623-80104630	GAA	A14fs	Glycogen storage disease, type II	Pathogenic (Feb 7, 2023)	reviewed by expert panel FDA Recognized Database
Select item 24459895.	NM_000152.5(GAA):c.1663G>C (p.Ala555Pro) GRCh37: Chr17:78085808 GRCh38: Chr17:80112009	GAA	A555P	Glycogen storage disease, type II	Likely pathogenic	criteria provided, single submitter
Select item 24278686.	NM_000152.5(GAA):c.955+43G>C GRCh37: Chr17:78081738 GRCh38: Chr17:80107939	GAA		Glycogen storage disease, type II	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 24224777.	NC_000017.10:g.(?_78090747)_(78110154_?)dup GRCh37: Chr17:78090747-78110154	EIF4A3, GAA		Glycogen storage disease, type II	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 24224768.	NC_000017.10:g.(?_78085283)_(78092476_?)del GRCh37: Chr17:78085283-78092476	GAA		Glycogen storage disease, type II	Pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 24224759.	NC_000017.10:g.(?_78084516)_(78084834_?)del GRCh37: Chr17:78084516-78084834	GAA		Glycogen storage disease, type II	Pathogenic (Sep 17, 2022)	criteria provided, single submitter
Select item 242193210.	NM_000152.5(GAA):c.2481+4C>G GRCh37: Chr17:78091552 GRCh38: Chr17:80117753	GAA		Glycogen storage disease, type II	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 242191111.	NM_000152.5(GAA):c.756G>A (p.Leu252=) GRCh37: Chr17:78081419 GRCh38: Chr17:80107620	GAA		Glycogen storage disease, type II	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 241999212.	NM_000152.5(GAA):c.616T>C (p.Ser206Pro) GRCh37: Chr17:78079617 GRCh38: Chr17:80105818	GAA	S206P	Glycogen storage disease, type II	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 241914713.	NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter) GRCh37: Chr17:78092129 GRCh38: Chr17:80118330	GAA	Y873*	Glycogen storage disease, type II	Pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 241914614.	NM_000152.5(GAA):c.1853G>A (p.Trp618Ter) GRCh37: Chr17:78086475 GRCh38: Chr17:80112676	GAA	W618*	Glycogen storage disease, type II	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 241884815.	NM_000152.5(GAA):c.546+20G>A GRCh37: Chr17:78078951 GRCh38: Chr17:80105152	GAA		Glycogen storage disease, type II	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 241872716.	NM_000152.5(GAA):c.2678C>T (p.Thr893Ile) GRCh37: Chr17:78092483 GRCh38: Chr17:80118684	GAA	T893I	Glycogen storage disease, type II	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 241523717.	NM_000152.5(GAA):c.1075+5G>A GRCh37: Chr17:78082213 GRCh38: Chr17:80108414	GAA		Glycogen storage disease, type II	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 241463718.	NM_000152.5(GAA):c.599T>A (p.Val200Asp) GRCh37: Chr17:78079600 GRCh38: Chr17:80105801	GAA	V200D	Glycogen storage disease, type II	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 241440219.	NM_000152.5(GAA):c.1194+11G>T GRCh37: Chr17:78082417 GRCh38: Chr17:80108618	GAA		Glycogen storage disease, type II	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 241316420.	NM_000152.5(GAA):c.1089G>A (p.Met363Ile) GRCh37: Chr17:78082301 GRCh38: Chr17:80108502	GAA	M363I	Glycogen storage disease, type II	Uncertain significance	criteria provided, single submitter
Select item 220228321.	NM_000152.5(GAA):c.1645G>A (p.Gly549Arg) GRCh37: Chr17:78085790 GRCh38: Chr17:80111991	GAA	G549R	Glycogen storage disease, type II	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 220125922.	NM_000152.5(GAA):c.117C>T (p.Pro39=) GRCh37: Chr17:78078502 GRCh38: Chr17:80104703	GAA		Glycogen storage disease, type II	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 219996423.	NM_000152.5(GAA):c.2857T>C (p.Ter953Gln) GRCh37: Chr17:78093128 GRCh38: Chr17:80119329	GAA		Glycogen storage disease, type II	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 219841624.	NM_000152.5(GAA):c.1036G>C (p.Glu346Gln) GRCh37: Chr17:78082169 GRCh38: Chr17:80108370	GAA	E346Q	Glycogen storage disease, type II	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 219618625.	NM_000152.5(GAA):c.666G>A (p.Val222=) GRCh37: Chr17:78079667 GRCh38: Chr17:80105868	GAA		Glycogen storage disease, type II	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 219612226.	NM_000152.5(GAA):c.1076-12G>A GRCh37: Chr17:78082276 GRCh38: Chr17:80108477	GAA		Glycogen storage disease, type II	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 219530427.	NM_000152.5(GAA):c.2482-9C>A GRCh37: Chr17:78091983 GRCh38: Chr17:80118184	GAA		Glycogen storage disease, type II	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 219522128.	NM_000152.5(GAA):c.2498C>T (p.Thr833Ile) GRCh37: Chr17:78092008 GRCh38: Chr17:80118209	GAA	T833I	Glycogen storage disease, type II	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 219068629.	NM_000152.5(GAA):c.24C>T (p.Cys8=) GRCh37: Chr17:78078409 GRCh38: Chr17:80104610	GAA		Glycogen storage disease, type II	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 219059130.	NM_000152.5(GAA):c.2349T>C (p.Leu783=) GRCh37: Chr17:78091416 GRCh38: Chr17:80117617	GAA		Glycogen storage disease, type II	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 218963231.	NM_000152.5(GAA):c.1484C>T (p.Ala495Val) GRCh37: Chr17:78084572 GRCh38: Chr17:80110773	GAA	A495V	not provided, Glycogen storage disease, type II	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218744932.	NM_000152.5(GAA):c.1326+16C>G GRCh37: Chr17:78082643 GRCh38: Chr17:80108844	GAA		Glycogen storage disease, type II	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 218696033.	NM_000152.5(GAA):c.1956C>T (p.Asn652=) GRCh37: Chr17:78086742 GRCh38: Chr17:80112943	GAA		Glycogen storage disease, type II	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 218351534.	NM_000152.5(GAA):c.711G>C (p.Ala237=) GRCh37: Chr17:78081374 GRCh38: Chr17:80107575	GAA		Glycogen storage disease, type II	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 218089735.	NM_000152.5(GAA):c.1090C>T (p.Pro364Ser) GRCh37: Chr17:78082302 GRCh38: Chr17:80108503	GAA	P364S	Glycogen storage disease, type II	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 218073036.	NM_000152.5(GAA):c.1160T>C (p.Val387Ala) GRCh37: Chr17:78082372 GRCh38: Chr17:80108573	GAA	V387A	Glycogen storage disease, type II	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 218055337.	NM_000152.5(GAA):c.2100C>A (p.Thr700=) GRCh37: Chr17:78087076 GRCh38: Chr17:80113277	GAA		Glycogen storage disease, type II	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 217910938.	NM_000152.5(GAA):c.2855G>T (p.Cys952Phe) GRCh37: Chr17:78093126 GRCh38: Chr17:80119327	GAA	C952F	Glycogen storage disease, type II	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 217832439.	NM_000152.5(GAA):c.2481+20A>G GRCh37: Chr17:78091568 GRCh38: Chr17:80117769	GAA		Glycogen storage disease, type II	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 217798540.	NM_000152.5(GAA):c.546+16G>A GRCh37: Chr17:78078947 GRCh38: Chr17:80105148	GAA		Glycogen storage disease, type II	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 217779941.	NM_000152.5(GAA):c.2189+10_2189+11del GRCh37: Chr17:78087175-78087176 GRCh38: Chr17:80113376-80113377	GAA		Glycogen storage disease, type II	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 217329242.	NM_000152.5(GAA):c.2511C>T (p.Arg837=) GRCh37: Chr17:78092021 GRCh38: Chr17:80118222	GAA		Glycogen storage disease, type II	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 217125743.	NM_000152.5(GAA):c.547-5_547-4delinsGG GRCh37: Chr17:78079543-78079544 GRCh38: Chr17:80105744-80105745	GAA		Glycogen storage disease, type II	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 217092844.	NM_000152.5(GAA):c.2472C>A (p.Ile824=) GRCh37: Chr17:78091539 GRCh38: Chr17:80117740	GAA		Glycogen storage disease, type II	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 216937245.	NM_000152.5(GAA):c.1880C>G (p.Ser627Cys) GRCh37: Chr17:78086502 GRCh38: Chr17:80112703	GAA	S627C	Glycogen storage disease, type II	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 216776846.	NM_000152.5(GAA):c.2210C>T (p.Thr737Ile) GRCh37: Chr17:78090787 GRCh38: Chr17:80116988	GAA	T737I	Glycogen storage disease, type II	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 216675947.	NM_000152.5(GAA):c.2416A>C (p.Thr806Pro) GRCh37: Chr17:78091483 GRCh38: Chr17:80117684	GAA	T806P	Glycogen storage disease, type II	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 216671548.	NM_000152.5(GAA):c.561T>A (p.Ala187=) GRCh37: Chr17:78079562 GRCh38: Chr17:80105763	GAA		Glycogen storage disease, type II	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 216582049.	NM_000152.5(GAA):c.1611G>T (p.Glu537Asp) GRCh37: Chr17:78084799 GRCh38: Chr17:80111000	GAA	E537D	Glycogen storage disease, type II	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 216536550.	NM_000152.5(GAA):c.851C>A (p.Ala284Glu) GRCh37: Chr17:78081514 GRCh38: Chr17:80107715	GAA	A284E	Glycogen storage disease, type II	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 216502151.	NM_000152.5(GAA):c.497C>T (p.Thr166Ile) GRCh37: Chr17:78078882 GRCh38: Chr17:80105083	GAA	T166I	Glycogen storage disease, type II	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 216415752.	NM_000152.5(GAA):c.859-14C>T GRCh37: Chr17:78081585 GRCh38: Chr17:80107786	GAA		Glycogen storage disease, type II	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 216369553.	NM_000152.5(GAA):c.1755-20G>A GRCh37: Chr17:78086357 GRCh38: Chr17:80112558	GAA		Glycogen storage disease, type II	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 216188954.	NM_000152.5(GAA):c.1426C>T (p.Leu476=) GRCh37: Chr17:78083843 GRCh38: Chr17:80110044	GAA		Glycogen storage disease, type II	Likely benign (Mar 19, 2020)	criteria provided, single submitter
Select item 216122955.	NM_000152.5(GAA):c.1637-12_1637-9del GRCh37: Chr17:78085768-78085771 GRCh38: Chr17:80111969-80111972	GAA		Glycogen storage disease, type II	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 216122856.	NM_000152.5(GAA):c.1637-19C>T GRCh37: Chr17:78085763 GRCh38: Chr17:80111964	GAA		Glycogen storage disease, type II	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216102257.	NM_000152.5(GAA):c.1195-16C>T GRCh37: Chr17:78082480 GRCh38: Chr17:80108681	GAA		Glycogen storage disease, type II	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 216073058.	NM_000152.5(GAA):c.1477C>T (p.Pro493Ser) GRCh37: Chr17:78084565 GRCh38: Chr17:80110766	GAA	P493S	not provided, Glycogen storage disease, type II	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 215984759.	NM_000152.5(GAA):c.598G>T (p.Val200Phe) GRCh37: Chr17:78079599 GRCh38: Chr17:80105800	GAA	V200F	not provided, Glycogen storage disease, type II	Uncertain significance (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215777260.	NM_000152.5(GAA):c.1711C>G (p.Leu571Val) GRCh37: Chr17:78085856 GRCh38: Chr17:80112057	GAA	L571V	Glycogen storage disease, type II	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 215632761.	NM_000152.5(GAA):c.87C>T (p.His29=) GRCh37: Chr17:78078472 GRCh38: Chr17:80104673	GAA		Glycogen storage disease, type II	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 215567662.	NM_000152.5(GAA):c.2190-16C>T GRCh37: Chr17:78090751 GRCh38: Chr17:80116952	GAA		Glycogen storage disease, type II	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 215507063.	NM_000152.5(GAA):c.1309C>A (p.Arg437Ser) GRCh37: Chr17:78082610 GRCh38: Chr17:80108811	GAA	R437S	Glycogen storage disease, type II	Likely pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 215444764.	NM_000152.5(GAA):c.1396G>T (p.Val466Phe) GRCh37: Chr17:78083813 GRCh38: Chr17:80110014	GAA	V466F	Glycogen storage disease, type II	Likely pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 215311465.	NM_000152.5(GAA):c.1033C>T (p.Pro345Ser) GRCh37: Chr17:78082166 GRCh38: Chr17:80108367	GAA	P345S	Glycogen storage disease, type II	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 215238466.	NM_000152.5(GAA):c.2800-16G>A GRCh37: Chr17:78093055 GRCh38: Chr17:80119256	GAA		Glycogen storage disease, type II	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 215235967.	NM_000152.5(GAA):c.859-4C>G GRCh37: Chr17:78081595 GRCh38: Chr17:80107796	GAA		Glycogen storage disease, type II	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 215163368.	NM_000152.5(GAA):c.546+5G>A GRCh37: Chr17:78078936 GRCh38: Chr17:80105137	GAA		Glycogen storage disease, type II	Uncertain significance (Nov 18, 2021)	criteria provided, single submitter
Select item 215143569.	NM_000152.5(GAA):c.866C>A (p.Ala289Glu) GRCh37: Chr17:78081606 GRCh38: Chr17:80107807	GAA	A289E	Glycogen storage disease, type II	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 215134370.	NM_000152.5(GAA):c.821C>T (p.Thr274Ile) GRCh37: Chr17:78081484 GRCh38: Chr17:80107685	GAA	T274I	Glycogen storage disease, type II	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 214927071.	NM_000152.5(GAA):c.733T>G (p.Phe245Val) GRCh37: Chr17:78081396 GRCh38: Chr17:80107597	GAA	F245V	Glycogen storage disease, type II	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 214925872.	NM_000152.5(GAA):c.2758G>T (p.Gly920Cys) GRCh37: Chr17:78092563 GRCh38: Chr17:80118764	GAA	G920C	Glycogen storage disease, type II	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 214866673.	NM_000152.5(GAA):c.194C>T (p.Pro65Leu) GRCh37: Chr17:78078579 GRCh38: Chr17:80104780	GAA	P65L	Glycogen storage disease, type II	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 214758574.	NM_000152.5(GAA):c.58T>A (p.Ser20Thr) GRCh37: Chr17:78078443 GRCh38: Chr17:80104644	GAA	S20T	Glycogen storage disease, type II	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 214661675.	NM_000152.5(GAA):c.1303G>A (p.Gly435Ser) GRCh37: Chr17:78082604 GRCh38: Chr17:80108805	GAA	G435S	Glycogen storage disease, type II	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 214545876.	NM_000152.5(GAA):c.1380G>C (p.Glu460Asp) GRCh37: Chr17:78083797 GRCh38: Chr17:80109998	GAA	E460D	Glycogen storage disease, type II	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214425977.	NM_000152.5(GAA):c.1636+15C>G GRCh37: Chr17:78084839 GRCh38: Chr17:80111040	GAA		Glycogen storage disease, type II	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 214277678.	NM_000152.5(GAA):c.1326G>A (p.Val442=) GRCh37: Chr17:78082627 GRCh38: Chr17:80108828	GAA		Glycogen storage disease, type II	Uncertain significance (Apr 12, 2021)	criteria provided, single submitter
Select item 214272879.	NM_000152.5(GAA):c.2332-7C>T GRCh37: Chr17:78091392 GRCh38: Chr17:80117593	GAA		Glycogen storage disease, type II	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 214246980.	NM_000152.5(GAA):c.858+7_858+8insAGCGGGT GRCh37: Chr17:78081528-78081529 GRCh38: Chr17:80107729-80107730	GAA		Glycogen storage disease, type II	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 214215381.	NM_000152.5(GAA):c.1551+15C>G GRCh37: Chr17:78084654 GRCh38: Chr17:80110855	GAA		Glycogen storage disease, type II	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 214104582.	NM_000152.5(GAA):c.595_596inv (p.His199Cys) GRCh37: Chr17:78079596-78079597 GRCh38: Chr17:80105797-80105798	GAA	H199C	Glycogen storage disease, type II	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 214091883.	NM_000152.5(GAA):c.922C>G (p.His308Asp) GRCh37: Chr17:78081662 GRCh38: Chr17:80107863	GAA	H308D	Glycogen storage disease, type II	Likely pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 214051984.	NM_000152.5(GAA):c.1888+18G>C GRCh37: Chr17:78086528 GRCh38: Chr17:80112729	GAA		Glycogen storage disease, type II	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 213977785.	NM_000152.5(GAA):c.2266C>T (p.Leu756Phe) GRCh37: Chr17:78090843 GRCh38: Chr17:80117044	GAA	L756F	Glycogen storage disease, type II	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 213957786.	NM_000152.5(GAA):c.1315A>G (p.Met439Val) GRCh37: Chr17:78082616 GRCh38: Chr17:80108817	GAA	M439V	Glycogen storage disease, type II	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 213940387.	NM_000152.5(GAA):c.264C>G (p.Ser88Arg) GRCh37: Chr17:78078649 GRCh38: Chr17:80104850	GAA	S88R	Glycogen storage disease, type II	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 213895788.	NM_000152.5(GAA):c.2064C>A (p.Ser688Arg) GRCh37: Chr17:78087040 GRCh38: Chr17:80113241	GAA	S688R	Glycogen storage disease, type II	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 213893189.	NM_000152.5(GAA):c.485A>G (p.Lys162Arg) GRCh37: Chr17:78078870 GRCh38: Chr17:80105071	GAA	K162R	Glycogen storage disease, type II	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 213811790.	NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter) GRCh37: Chr17:78086449 GRCh38: Chr17:80112650	GAA	Y609*	Glycogen storage disease, type II	Pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 213811491.	NM_000152.5(GAA):c.1054C>T (p.Gln352Ter) GRCh37: Chr17:78082187 GRCh38: Chr17:80108388	GAA	Q352*	Glycogen storage disease, type II	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 213811392.	NM_000152.5(GAA):c.572A>G (p.Tyr191Cys) GRCh37: Chr17:78079573 GRCh38: Chr17:80105774	GAA	Y191C	not provided, Glycogen storage disease, type II	Uncertain significance (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213811293.	NM_000152.5(GAA):c.546+2T>C GRCh37: Chr17:78078933 GRCh38: Chr17:80105134	GAA		Glycogen storage disease, type II	Likely pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 213735494.	NM_000152.5(GAA):c.1869G>T (p.Gln623His) GRCh37: Chr17:78086491 GRCh38: Chr17:80112692	GAA	Q623H	Glycogen storage disease, type II	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 213493295.	NM_000152.5(GAA):c.2696T>G (p.Leu899Arg) GRCh37: Chr17:78092501 GRCh38: Chr17:80118702	GAA	L899R	Glycogen storage disease, type II	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213486796.	NM_000152.5(GAA):c.547A>G (p.Ile183Val) GRCh37: Chr17:78079548 GRCh38: Chr17:80105749	GAA	I183V	Glycogen storage disease, type II	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 213386797.	NM_000152.5(GAA):c.2759G>A (p.Gly920Asp) GRCh37: Chr17:78092564 GRCh38: Chr17:80118765	GAA	G920D	not provided, Glycogen storage disease, type II	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213255898.	NM_000152.5(GAA):c.522G>A (p.Glu174=) GRCh37: Chr17:78078907 GRCh38: Chr17:80105108	GAA		Glycogen storage disease, type II	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 213207399.	NM_000152.5(GAA):c.1551+20G>A GRCh37: Chr17:78084659 GRCh38: Chr17:80110860	GAA		Glycogen storage disease, type II	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 2131661100.	NM_000152.5(GAA):c.1508T>C (p.Val503Ala) GRCh37: Chr17:78084596 GRCh38: Chr17:80110797	GAA	V503A	Glycogen storage disease, type II	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter

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