ClinVar for MedGen (Select 443957) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24401831.	NM_018714.3(COG1):c.1711C>T (p.Arg571Trp) GRCh37: Chr17:71197677 GRCh38: Chr17:73201538	COG1	R571W	COG1 congenital disorder of glycosylation	Uncertain significance (Jan 17, 2023)	criteria provided, single submitter
Select item 24401822.	NM_018714.3(COG1):c.559C>T (p.Arg187Trp) GRCh37: Chr17:71192889 GRCh38: Chr17:73196750	COG1	R187W	COG1 congenital disorder of glycosylation	Uncertain significance (Apr 12, 2019)	criteria provided, single submitter
Select item 24207833.	NM_018714.3(COG1):c.560G>A (p.Arg187Gln) GRCh37: Chr17:71192890 GRCh38: Chr17:73196751	COG1	R187Q	COG1 congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 24207484.	NM_018714.3(COG1):c.1813A>G (p.Ser605Gly) GRCh37: Chr17:71197779 GRCh38: Chr17:73201640	COG1	S605G	COG1 congenital disorder of glycosylation	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 24173125.	NM_018714.3(COG1):c.1288A>G (p.Thr430Ala) GRCh37: Chr17:71197254 GRCh38: Chr17:73201115	COG1	T430A	COG1 congenital disorder of glycosylation	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 24155646.	NM_018714.3(COG1):c.327A>G (p.Pro109=) GRCh37: Chr17:71192657 GRCh38: Chr17:73196518	COG1		COG1 congenital disorder of glycosylation	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 24132097.	NM_018714.3(COG1):c.308C>T (p.Ala103Val) GRCh37: Chr17:71189516 GRCh38: Chr17:73193377	COG1	A103V	COG1 congenital disorder of glycosylation	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 21964948.	NM_018714.3(COG1):c.2681A>G (p.Asn894Ser) GRCh37: Chr17:71202908 GRCh38: Chr17:73206769	COG1	N894S	COG1 congenital disorder of glycosylation	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 21959389.	NM_018714.3(COG1):c.1006C>T (p.Arg336Ter) GRCh37: Chr17:71196096 GRCh38: Chr17:73199957	COG1, LOC126862634	R336*	COG1 congenital disorder of glycosylation	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 219523310.	NM_018714.3(COG1):c.2659G>A (p.Ala887Thr) GRCh37: Chr17:71202886 GRCh38: Chr17:73206747	COG1	A887T	COG1 congenital disorder of glycosylation	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 219146911.	NM_018714.3(COG1):c.163C>T (p.Arg55Trp) GRCh37: Chr17:71189371 GRCh38: Chr17:73193232	COG1	R55W	COG1 congenital disorder of glycosylation	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 219126712.	NM_018714.3(COG1):c.913G>A (p.Gly305Arg) GRCh37: Chr17:71193535 GRCh38: Chr17:73197396	COG1	G305R	COG1 congenital disorder of glycosylation	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 218661513.	NM_018714.3(COG1):c.514C>T (p.Arg172Trp) GRCh37: Chr17:71192844 GRCh38: Chr17:73196705	COG1	R172W	Inborn genetic diseases, COG1 congenital disorder of glycosylation	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218563714.	NM_018714.3(COG1):c.1140G>A (p.Ala380=) GRCh37: Chr17:71196774 GRCh38: Chr17:73200635	COG1, LOC126862634		COG1 congenital disorder of glycosylation	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 218293515.	NM_018714.3(COG1):c.2008G>A (p.Val670Ile) GRCh37: Chr17:71197974 GRCh38: Chr17:73201835	COG1	V670I	COG1 congenital disorder of glycosylation	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 218239316.	NM_018714.3(COG1):c.2413C>G (p.Arg805Gly) GRCh37: Chr17:71201722 GRCh38: Chr17:73205583	COG1	R805G	Inborn genetic diseases, COG1 congenital disorder of glycosylation	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218077817.	NM_018714.3(COG1):c.833_835del (p.Glu278del) GRCh37: Chr17:71193453-71193455 GRCh38: Chr17:73197314-73197316	COG1	E278del	COG1 congenital disorder of glycosylation	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 217618018.	NM_018714.3(COG1):c.750T>C (p.Gly250=) GRCh37: Chr17:71193372 GRCh38: Chr17:73197233	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 217007419.	NM_018714.3(COG1):c.2220+15T>C GRCh37: Chr17:71199300 GRCh38: Chr17:73203161	COG1		COG1 congenital disorder of glycosylation	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 215931420.	NM_018714.3(COG1):c.2676G>A (p.Thr892=) GRCh37: Chr17:71202903 GRCh38: Chr17:73206764	COG1		COG1 congenital disorder of glycosylation	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 215733821.	NM_018714.3(COG1):c.626C>T (p.Ala209Val) GRCh37: Chr17:71193104 GRCh38: Chr17:73196965	COG1	A209V	Inborn genetic diseases, COG1 congenital disorder of glycosylation	Uncertain significance (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215685222.	NM_018714.3(COG1):c.1456G>A (p.Asp486Asn) GRCh37: Chr17:71197422 GRCh38: Chr17:73201283	COG1	D486N	COG1 congenital disorder of glycosylation	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 215401123.	NM_018714.3(COG1):c.1590T>G (p.Asp530Glu) GRCh37: Chr17:71197556 GRCh38: Chr17:73201417	COG1	D530E	COG1 congenital disorder of glycosylation	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 214668924.	NM_018714.3(COG1):c.448T>A (p.Cys150Ser) GRCh37: Chr17:71192778 GRCh38: Chr17:73196639	COG1	C150S	COG1 congenital disorder of glycosylation	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 214491825.	NM_018714.3(COG1):c.2220+15T>G GRCh37: Chr17:71199300 GRCh38: Chr17:73203161	COG1		COG1 congenital disorder of glycosylation	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 214490726.	NM_018714.3(COG1):c.180C>G (p.Ile60Met) GRCh37: Chr17:71189388 GRCh38: Chr17:73193249	COG1	I60M	COG1 congenital disorder of glycosylation	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 214266527.	NM_018714.3(COG1):c.2392G>A (p.Ala798Thr) GRCh37: Chr17:71201701 GRCh38: Chr17:73205562	COG1	A798T	COG1 congenital disorder of glycosylation	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 214153528.	NM_018714.3(COG1):c.2634G>A (p.Leu878=) GRCh37: Chr17:71202861 GRCh38: Chr17:73206722	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 214078129.	NM_018714.3(COG1):c.2492G>A (p.Arg831Gln) GRCh37: Chr17:71201801 GRCh38: Chr17:73205662	COG1	R831Q	COG1 congenital disorder of glycosylation	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 213960630.	NM_018714.3(COG1):c.2618C>T (p.Ser873Phe) GRCh37: Chr17:71202400 GRCh38: Chr17:73206261	COG1	S873F	COG1 congenital disorder of glycosylation	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 212260831.	NM_018714.3(COG1):c.272G>T (p.Arg91Leu) GRCh37: Chr17:71189480 GRCh38: Chr17:73193341	COG1	R91L	COG1 congenital disorder of glycosylation	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 211755632.	NM_018714.3(COG1):c.510C>T (p.Leu170=) GRCh37: Chr17:71192840 GRCh38: Chr17:73196701	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 211217733.	NM_018714.3(COG1):c.2619+17A>T GRCh37: Chr17:71202418 GRCh38: Chr17:73206279	COG1		COG1 congenital disorder of glycosylation	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 210518134.	NM_018714.3(COG1):c.649C>G (p.Leu217Val) GRCh37: Chr17:71193127 GRCh38: Chr17:73196988	COG1	L217V	COG1 congenital disorder of glycosylation	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 210416635.	NM_018714.3(COG1):c.850C>T (p.Pro284Ser) GRCh37: Chr17:71193472 GRCh38: Chr17:73197333	COG1	P284S	COG1 congenital disorder of glycosylation	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 210290536.	NM_018714.3(COG1):c.2747T>C (p.Leu916Pro) GRCh37: Chr17:71203337 GRCh38: Chr17:73207198	COG1	L916P	COG1 congenital disorder of glycosylation	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 209824637.	NM_018714.3(COG1):c.561-1G>A GRCh37: Chr17:71193038 GRCh38: Chr17:73196899	COG1		COG1 congenital disorder of glycosylation	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209697838.	NM_018714.3(COG1):c.561-6T>G GRCh37: Chr17:71193033 GRCh38: Chr17:73196894	COG1		COG1 congenital disorder of glycosylation	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 209228639.	NM_018714.3(COG1):c.2486G>A (p.Ser829Asn) GRCh37: Chr17:71201795 GRCh38: Chr17:73205656	COG1	S829N	COG1 congenital disorder of glycosylation	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 208566740.	NM_018714.3(COG1):c.2216C>T (p.Ala739Val) GRCh37: Chr17:71199281 GRCh38: Chr17:73203142	COG1	A739V	COG1 congenital disorder of glycosylation	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 208350441.	NM_018714.3(COG1):c.1139C>T (p.Ala380Val) GRCh37: Chr17:71196773 GRCh38: Chr17:73200634	COG1, LOC126862634	A380V	Inborn genetic diseases, COG1 congenital disorder of glycosylation	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207907842.	NM_018714.3(COG1):c.561-11_561-9del GRCh37: Chr17:71193024-71193026 GRCh38: Chr17:73196885-73196887	COG1		COG1 congenital disorder of glycosylation	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 207097743.	NM_018714.3(COG1):c.810T>C (p.His270=) GRCh37: Chr17:71193432 GRCh38: Chr17:73197293	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 207055144.	NM_018714.3(COG1):c.2414G>A (p.Arg805Gln) GRCh37: Chr17:71201723 GRCh38: Chr17:73205584	COG1	R805Q	COG1 congenital disorder of glycosylation	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 206640745.	NM_018714.3(COG1):c.403A>T (p.Met135Leu) GRCh37: Chr17:71192733 GRCh38: Chr17:73196594	COG1	M135L	COG1 congenital disorder of glycosylation	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 205916846.	NM_018714.3(COG1):c.1183A>C (p.Thr395Pro) GRCh37: Chr17:71196817 GRCh38: Chr17:73200678	COG1, LOC126862634	T395P	COG1 congenital disorder of glycosylation	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 205861947.	NM_018714.3(COG1):c.1446C>G (p.Asp482Glu) GRCh37: Chr17:71197412 GRCh38: Chr17:73201273	COG1	D482E	COG1 congenital disorder of glycosylation	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 205582148.	NM_018714.3(COG1):c.628G>A (p.Glu210Lys) GRCh37: Chr17:71193106 GRCh38: Chr17:73196967	COG1	E210K	COG1 congenital disorder of glycosylation	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 205347349.	NM_018714.3(COG1):c.1516A>G (p.Lys506Glu) GRCh37: Chr17:71197482 GRCh38: Chr17:73201343	COG1	K506E	COG1 congenital disorder of glycosylation	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 205253850.	NM_018714.3(COG1):c.1980C>A (p.Ile660=) GRCh37: Chr17:71197946 GRCh38: Chr17:73201807	COG1		COG1 congenital disorder of glycosylation	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 204794351.	NM_018714.3(COG1):c.701G>A (p.Arg234Lys) GRCh37: Chr17:71193179 GRCh38: Chr17:73197040	COG1	R234K	COG1 congenital disorder of glycosylation	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 204762352.	NM_018714.3(COG1):c.511T>C (p.Ser171Pro) GRCh37: Chr17:71192841 GRCh38: Chr17:73196702	COG1	S171P	COG1 congenital disorder of glycosylation	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 204453253.	NM_018714.3(COG1):c.2525C>T (p.Thr842Ile) GRCh37: Chr17:71202307 GRCh38: Chr17:73206168	COG1	T842I	COG1 congenital disorder of glycosylation	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 204427354.	NM_018714.3(COG1):c.2664C>T (p.Pro888=) GRCh37: Chr17:71202891 GRCh38: Chr17:73206752	COG1		COG1 congenital disorder of glycosylation	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 203724655.	NM_018714.3(COG1):c.423C>G (p.Leu141=) GRCh37: Chr17:71192753 GRCh38: Chr17:73196614	COG1		COG1 congenital disorder of glycosylation	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 203245656.	NM_018714.3(COG1):c.2124A>C (p.Ser708=) GRCh37: Chr17:71199189 GRCh38: Chr17:73203050	COG1		COG1 congenital disorder of glycosylation	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 202830957.	NM_018714.3(COG1):c.254dup (p.Tyr86fs) GRCh37: Chr17:71189461-71189462 GRCh38: Chr17:73193322-73193323	COG1	Y86fs	COG1 congenital disorder of glycosylation	Pathogenic (Sep 21, 2022)	criteria provided, single submitter
Select item 202763558.	NM_018714.3(COG1):c.2686C>T (p.Gln896Ter) GRCh37: Chr17:71202913 GRCh38: Chr17:73206774	COG1	Q896*	COG1 congenital disorder of glycosylation	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 201107659.	NM_018714.3(COG1):c.315+9C>G GRCh37: Chr17:71189532 GRCh38: Chr17:73193393	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 200899260.	NM_018714.3(COG1):c.1207T>C (p.Cys403Arg) GRCh37: Chr17:71196841 GRCh38: Chr17:73200702	COG1, LOC126862634	C403R	COG1 congenital disorder of glycosylation	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200287161.	NM_018714.3(COG1):c.2515G>C (p.Glu839Gln) GRCh37: Chr17:71202297 GRCh38: Chr17:73206158	COG1	E839Q	COG1 congenital disorder of glycosylation	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 199336762.	NM_018714.3(COG1):c.148C>T (p.Gln50Ter) GRCh37: Chr17:71189356 GRCh38: Chr17:73193217	COG1	Q50*	COG1 congenital disorder of glycosylation	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 199091663.	NM_018714.3(COG1):c.1993G>T (p.Ala665Ser) GRCh37: Chr17:71197959 GRCh38: Chr17:73201820	COG1	A665S	COG1 congenital disorder of glycosylation	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 199024164.	NM_018714.3(COG1):c.2805+18G>C GRCh37: Chr17:71203413 GRCh38: Chr17:73207274	COG1		COG1 congenital disorder of glycosylation	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 198547765.	NM_018714.3(COG1):c.2116G>C (p.Ala706Pro) GRCh37: Chr17:71199181 GRCh38: Chr17:73203042	COG1	A706P	COG1 congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 198404866.	NM_018714.3(COG1):c.560+18A>C GRCh37: Chr17:71192908 GRCh38: Chr17:73196769	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 198088167.	NM_018714.3(COG1):c.742+14C>G GRCh37: Chr17:71193234 GRCh38: Chr17:73197095	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 198043868.	NM_018714.3(COG1):c.2555T>C (p.Phe852Ser) GRCh37: Chr17:71202337 GRCh38: Chr17:73206198	COG1	F852S	COG1 congenital disorder of glycosylation	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 198007569.	NM_018714.3(COG1):c.423C>T (p.Leu141=) GRCh37: Chr17:71192753 GRCh38: Chr17:73196614	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 197894270.	NM_018714.3(COG1):c.2715A>G (p.Ala905=) GRCh37: Chr17:71202942 GRCh38: Chr17:73206803	COG1		COG1 congenital disorder of glycosylation	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 197822371.	NM_018714.3(COG1):c.622G>A (p.Val208Met) GRCh37: Chr17:71193100 GRCh38: Chr17:73196961	COG1	V208M	COG1 congenital disorder of glycosylation	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 197762372.	NM_018714.3(COG1):c.2805+13_2805+20del GRCh37: Chr17:71203406-71203413 GRCh38: Chr17:73207267-73207274	COG1		COG1 congenital disorder of glycosylation	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 195793073.	NM_018714.3(COG1):c.125A>C (p.Glu42Ala) GRCh37: Chr17:71189333 GRCh38: Chr17:73193194	COG1	E42A	COG1 congenital disorder of glycosylation	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 195767274.	NM_018714.3(COG1):c.334_336del (p.Glu112del) GRCh37: Chr17:71192662-71192664 GRCh38: Chr17:73196523-73196525	COG1	E112del	COG1 congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 195287575.	NM_018714.3(COG1):c.1952A>G (p.Lys651Arg) GRCh37: Chr17:71197918 GRCh38: Chr17:73201779	COG1	K651R	COG1 congenital disorder of glycosylation	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 195107276.	NM_018714.3(COG1):c.2007G>C (p.Glu669Asp) GRCh37: Chr17:71197973 GRCh38: Chr17:73201834	COG1	E669D	COG1 congenital disorder of glycosylation	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 195070877.	NM_018714.3(COG1):c.1221G>A (p.Leu407=) GRCh37: Chr17:71196855 GRCh38: Chr17:73200716	COG1, LOC126862634		COG1 congenital disorder of glycosylation	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 194873578.	NM_001098832.2(FAM104A):c.1231_1235del GRCh37: Chr17:71204433-71204437 GRCh38: Chr17:73208294-73208298	FAM104A, COG1		COG1 congenital disorder of glycosylation	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 193893679.	NM_018714.3(COG1):c.2872G>A (p.Val958Ile) GRCh37: Chr17:71204519 GRCh38: Chr17:73208380	COG1, FAM104A	V958I	COG1 congenital disorder of glycosylation	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 193747480.	NM_018714.3(COG1):c.1A>G (p.Met1Val) GRCh37: Chr17:71189209 GRCh38: Chr17:73193070	COG1	M1V	COG1 congenital disorder of glycosylation	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 193212481.	NM_018714.3(COG1):c.189C>A (p.Ala63=) GRCh37: Chr17:71189397 GRCh38: Chr17:73193258	COG1		COG1 congenital disorder of glycosylation	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 191314182.	NM_018714.3(COG1):c.2220+9G>A GRCh37: Chr17:71199294 GRCh38: Chr17:73203155	COG1		COG1 congenital disorder of glycosylation	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 190995583.	NM_018714.3(COG1):c.2730-18T>C GRCh37: Chr17:71203302 GRCh38: Chr17:73207163	COG1		COG1 congenital disorder of glycosylation	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 171626684.	NM_018714.3(COG1):c.2057G>T (p.Ser686Ile) GRCh37: Chr17:71198023 GRCh38: Chr17:73201884	COG1	S686I	COG1 congenital disorder of glycosylation	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 167446285.	NM_018714.3(COG1):c.2841G>A (p.Pro947=) GRCh37: Chr17:71204488 GRCh38: Chr17:73208349	COG1, FAM104A		COG1 congenital disorder of glycosylation	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 166095486.	NM_018714.3(COG1):c.1350G>A (p.Gln450=) GRCh37: Chr17:71197316 GRCh38: Chr17:73201177	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jun 3, 2021)	criteria provided, single submitter
Select item 166072687.	NM_018714.3(COG1):c.2052C>A (p.Val684=) GRCh37: Chr17:71198018 GRCh38: Chr17:73201879	COG1		COG1 congenital disorder of glycosylation	Likely benign (May 20, 2021)	criteria provided, single submitter
Select item 165886388.	NM_018714.3(COG1):c.930C>T (p.Val310=) GRCh37: Chr17:71196020 GRCh38: Chr17:73199881	COG1, LOC126862634		COG1 congenital disorder of glycosylation	Likely benign (May 16, 2021)	criteria provided, single submitter
Select item 165430989.	NM_018714.3(COG1):c.549C>T (p.Ala183=) GRCh37: Chr17:71192879 GRCh38: Chr17:73196740	COG1		COG1 congenital disorder of glycosylation	Likely benign (Apr 29, 2021)	criteria provided, single submitter
Select item 164714490.	NM_018714.3(COG1):c.2220+18G>C GRCh37: Chr17:71199303 GRCh38: Chr17:73203164	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jun 12, 2021)	criteria provided, single submitter
Select item 164296791.	NM_018714.3(COG1):c.2892G>A (p.Thr964=) GRCh37: Chr17:71204539 GRCh38: Chr17:73208400	FAM104A, COG1		COG1 congenital disorder of glycosylation	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 163752792.	NM_018714.3(COG1):c.2781C>T (p.Thr927=) GRCh37: Chr17:71203371 GRCh38: Chr17:73207232	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 163669693.	NM_018714.3(COG1):c.258C>T (p.Tyr86=) GRCh37: Chr17:71189466 GRCh38: Chr17:73193327	COG1		COG1 congenital disorder of glycosylation	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 163472394.	NM_018714.3(COG1):c.2073+17C>T GRCh37: Chr17:71198056 GRCh38: Chr17:73201917	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 161375295.	NM_018714.3(COG1):c.126G>A (p.Glu42=) GRCh37: Chr17:71189334 GRCh38: Chr17:73193195	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 160347796.	NM_018714.3(COG1):c.1767A>G (p.Leu589=) GRCh37: Chr17:71197733 GRCh38: Chr17:73201594	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 160242997.	NM_018714.3(COG1):c.984C>T (p.Ile328=) GRCh37: Chr17:71196074 GRCh38: Chr17:73199935	COG1, LOC126862634		COG1 congenital disorder of glycosylation	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 159636498.	NM_018714.3(COG1):c.9C>T (p.Thr3=) GRCh37: Chr17:71189217 GRCh38: Chr17:73193078	COG1		COG1 congenital disorder of glycosylation	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 159571599.	NM_018714.3(COG1):c.2220+18del GRCh37: Chr17:71199301 GRCh38: Chr17:73203162	COG1		COG1 congenital disorder of glycosylation	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 1591326100.	NM_018714.3(COG1):c.914-8C>A GRCh37: Chr17:71195996 GRCh38: Chr17:73199857	COG1, LOC126862634		COG1 congenital disorder of glycosylation	Likely benign (Aug 15, 2022)	criteria provided, single submitter

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