ClinVar for MedGen (Select 409971) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24401921.	NM_032382.5(COG8):c.980T>G (p.Leu327Arg) GRCh37: Chr16:69368857 GRCh38: Chr16:69334954	COG8	L327R	COG8-congenital disorder of glycosylation	Uncertain significance (Jan 10, 2019)	criteria provided, single submitter
Select item 24401912.	NM_032382.5(COG8):c.766C>T (p.Arg256Trp) GRCh37: Chr16:69369071 GRCh38: Chr16:69335168	COG8	R256W	COG8-congenital disorder of glycosylation	Uncertain significance (Jun 14, 2019)	criteria provided, single submitter
Select item 21940543.	NM_032382.5(COG8):c.1583-6G>A GRCh37: Chr16:69365004 GRCh38: Chr16:69331101	COG8	G539E	COG8-congenital disorder of glycosylation	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 21735324.	NM_032382.5(COG8):c.252C>T (p.Phe84=) GRCh37: Chr16:69373204 GRCh38: Chr16:69339301	COG8		COG8-congenital disorder of glycosylation	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 21532315.	NM_032382.5(COG8):c.540C>T (p.Tyr180=) GRCh37: Chr16:69370453 GRCh38: Chr16:69336550	COG8		COG8-congenital disorder of glycosylation	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 21219036.	NM_032382.5(COG8):c.1072C>A (p.Arg358=) GRCh37: Chr16:69368765 GRCh38: Chr16:69334862	COG8		COG8-congenital disorder of glycosylation	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 21118577.	NM_032382.5(COG8):c.507T>G (p.Ser169Arg) GRCh37: Chr16:69370486 GRCh38: Chr16:69336583	COG8	S169R	COG8-congenital disorder of glycosylation	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 20824438.	NM_032382.5(COG8):c.357C>G (p.Pro119=) GRCh37: Chr16:69373099 GRCh38: Chr16:69339196	COG8		COG8-congenital disorder of glycosylation	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 20582339.	NM_032382.5(COG8):c.598G>C (p.Glu200Gln) GRCh37: Chr16:69369239 GRCh38: Chr16:69335336	COG8	E200Q	COG8-congenital disorder of glycosylation	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 204885810.	NM_032382.5(COG8):c.810T>C (p.His270=) GRCh37: Chr16:69369027 GRCh38: Chr16:69335124	COG8		COG8-congenital disorder of glycosylation	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 203781111.	NM_032382.5(COG8):c.164G>C (p.Gly55Ala) GRCh37: Chr16:69373292 GRCh38: Chr16:69339389	COG8	G55A	COG8-congenital disorder of glycosylation	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 197985212.	NM_032382.5(COG8):c.1686T>C (p.Leu562=) GRCh37: Chr16:69364895 GRCh38: Chr16:69330992	COG8		COG8-congenital disorder of glycosylation	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 197527013.	NM_032382.5(COG8):c.378-11A>G GRCh37: Chr16:69370626 GRCh38: Chr16:69336723	COG8		COG8-congenital disorder of glycosylation	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 197176714.	NM_032382.5(COG8):c.1799G>A (p.Arg600Gln) GRCh37: Chr16:69364782 GRCh38: Chr16:69330879	COG8	R613Q, R647Q, R600Q	COG8-congenital disorder of glycosylation	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 196937915.	NM_032382.5(COG8):c.474T>G (p.Ile158Met) GRCh37: Chr16:69370519 GRCh38: Chr16:69336616	COG8	I158M	COG8-congenital disorder of glycosylation	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 196471116.	NM_032382.5(COG8):c.240C>T (p.Arg80=) GRCh37: Chr16:69373216 GRCh38: Chr16:69339313	COG8		COG8-congenital disorder of glycosylation	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 191319217.	NM_032382.5(COG8):c.645A>G (p.Gln215=) GRCh37: Chr16:69369192 GRCh38: Chr16:69335289	COG8		COG8-congenital disorder of glycosylation	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 190970418.	NM_032382.5(COG8):c.192G>T (p.Glu64Asp) GRCh37: Chr16:69373264 GRCh38: Chr16:69339361	COG8	E64D	COG8-congenital disorder of glycosylation	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 180617219.	NM_032382.5(COG8):c.1643T>C (p.Ile548Thr) GRCh37: Chr16:69364938 GRCh38: Chr16:69331035	COG8	I548T, I561T, I595T	COG8-congenital disorder of glycosylation	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 180616520.	NM_032382.5(COG8):c.888_890del (p.Glu296del) GRCh37: Chr16:69368947-69368949 GRCh38: Chr16:69335044-69335046	COG8	E296del	COG8-congenital disorder of glycosylation	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 165978121.	NM_032382.5(COG8):c.147C>T (p.Tyr49=) GRCh37: Chr16:69373309 GRCh38: Chr16:69339406	COG8		COG8-congenital disorder of glycosylation	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 164039222.	NM_032382.5(COG8):c.558G>A (p.Arg186=) GRCh37: Chr16:69370435 GRCh38: Chr16:69336532	COG8		COG8-congenital disorder of glycosylation	Likely benign (Apr 19, 2021)	criteria provided, single submitter
Select item 163230623.	NM_032382.5(COG8):c.1666C>T (p.Leu556=) GRCh37: Chr16:69364915 GRCh38: Chr16:69331012	COG8		COG8-congenital disorder of glycosylation	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 161423724.	NM_032382.5(COG8):c.1443C>T (p.Arg481=) GRCh37: Chr16:69366756 GRCh38: Chr16:69332853	COG8		COG8-congenital disorder of glycosylation	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 160242825.	NM_032382.5(COG8):c.979C>T (p.Leu327=) GRCh37: Chr16:69368858 GRCh38: Chr16:69334955	COG8		COG8-congenital disorder of glycosylation	Likely benign (Dec 21, 2020)	criteria provided, single submitter
Select item 158390826.	NM_032382.5(COG8):c.825C>T (p.Ile275=) GRCh37: Chr16:69369012 GRCh38: Chr16:69335109	COG8		COG8-congenital disorder of glycosylation	Likely benign (Mar 20, 2021)	criteria provided, single submitter
Select item 156818627.	NM_032382.5(COG8):c.1398A>G (p.Glu466=) GRCh37: Chr16:69368439 GRCh38: Chr16:69334536	COG8		COG8-congenital disorder of glycosylation	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 154502328.	NM_032382.5(COG8):c.1488C>A (p.Val496=) GRCh37: Chr16:69366711 GRCh38: Chr16:69332808	COG8		COG8-congenital disorder of glycosylation	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 151655729.	NM_032382.5(COG8):c.1018G>A (p.Gly340Ser) GRCh37: Chr16:69368819 GRCh38: Chr16:69334916	COG8	G340S	COG8-congenital disorder of glycosylation	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 151517530.	NM_032382.5(COG8):c.377+14G>A GRCh37: Chr16:69373065 GRCh38: Chr16:69339162	COG8		COG8-congenital disorder of glycosylation	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 150736531.	NM_032382.5(COG8):c.1340A>G (p.Asn447Ser) GRCh37: Chr16:69368497 GRCh38: Chr16:69334594	COG8	N447S	COG8-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 149923032.	NM_032382.5(COG8):c.698G>A (p.Arg233Gln) GRCh37: Chr16:69369139 GRCh38: Chr16:69335236	COG8	R233Q	COG8-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 149277733.	NM_032382.5(COG8):c.997G>A (p.Asp333Asn) GRCh37: Chr16:69368840 GRCh38: Chr16:69334937	COG8	D333N	Inborn genetic diseases, COG8-congenital disorder of glycosylation	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147809034.	NM_032382.5(COG8):c.919C>T (p.His307Tyr) GRCh37: Chr16:69368918 GRCh38: Chr16:69335015	COG8	H307Y	COG8-congenital disorder of glycosylation	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 147371735.	NM_032382.5(COG8):c.673T>G (p.Cys225Gly) GRCh37: Chr16:69369164 GRCh38: Chr16:69335261	COG8	C225G	COG8-congenital disorder of glycosylation	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 145105836.	NM_032382.5(COG8):c.1128C>G (p.Ile376Met) GRCh37: Chr16:69368709 GRCh38: Chr16:69334806	COG8	I376M	COG8-congenital disorder of glycosylation	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 144944837.	NM_032382.5(COG8):c.700C>T (p.Arg234Cys) GRCh37: Chr16:69369137 GRCh38: Chr16:69335234	COG8	R234C	COG8-congenital disorder of glycosylation	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 143881638.	NM_032382.5(COG8):c.380A>G (p.Asn127Ser) GRCh37: Chr16:69370613 GRCh38: Chr16:69336710	COG8	N127S	COG8-congenital disorder of glycosylation	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 142829539.	NM_032382.5(COG8):c.440A>G (p.Asn147Ser) GRCh37: Chr16:69370553 GRCh38: Chr16:69336650	COG8	N147S	COG8-congenital disorder of glycosylation	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 142198640.	NM_032382.5(COG8):c.1715C>A (p.Pro572His) GRCh37: Chr16:69364866 GRCh38: Chr16:69330963	COG8	P572H, P585H, P619H	COG8-congenital disorder of glycosylation	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 141416541.	NM_032382.5(COG8):c.416G>A (p.Arg139His) GRCh37: Chr16:69370577 GRCh38: Chr16:69336674	COG8	R139H	COG8-congenital disorder of glycosylation	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 140472242.	NM_032382.5(COG8):c.914G>A (p.Gly305Asp) GRCh37: Chr16:69368923 GRCh38: Chr16:69335020	COG8	G305D	COG8-congenital disorder of glycosylation	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 139915543.	NM_032382.5(COG8):c.663G>C (p.Gln221His) GRCh37: Chr16:69369174 GRCh38: Chr16:69335271	COG8	Q221H	COG8-congenital disorder of glycosylation	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 138682044.	NM_032382.5(COG8):c.766C>G (p.Arg256Gly) GRCh37: Chr16:69369071 GRCh38: Chr16:69335168	COG8	R256G	COG8-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 138407245.	NM_032382.5(COG8):c.1549C>G (p.Leu517Val) GRCh37: Chr16:69366650 GRCh38: Chr16:69332747	COG8	L517V	COG8-congenital disorder of glycosylation, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 136456446.	NM_032382.5(COG8):c.697C>T (p.Arg233Trp) GRCh37: Chr16:69369140 GRCh38: Chr16:69335237	COG8	R233W	COG8-congenital disorder of glycosylation	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 135521547.	NM_032382.5(COG8):c.1793G>A (p.Gly598Glu) GRCh37: Chr16:69364788 GRCh38: Chr16:69330885	COG8	G598E, G611E, G645E	COG8-congenital disorder of glycosylation	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 111202248.	NM_032382.5(COG8):c.1473G>A (p.Glu491=) GRCh37: Chr16:69366726 GRCh38: Chr16:69332823	COG8		COG8-congenital disorder of glycosylation	Likely benign (Jan 13, 2020)	criteria provided, single submitter
Select item 109827249.	NM_032382.5(COG8):c.*26+5G>C GRCh37: Chr16:69364711 GRCh38: Chr16:69330808	COG8		COG8-congenital disorder of glycosylation	Uncertain significance (May 13, 2021)	criteria provided, single submitter
Select item 109827150.	NM_032382.5(COG8):c.1550_1556del (p.Leu517fs) GRCh37: Chr16:69366643-69366649 GRCh38: Chr16:69332740-69332746	COG8	L517fs	COG8-congenital disorder of glycosylation	Pathogenic (May 13, 2021)	criteria provided, single submitter
Select item 106099551.	NM_032382.5(COG8):c.19A>G (p.Ile7Val) GRCh37: Chr16:69373437 GRCh38: Chr16:69339534	COG8	I7V	COG8-congenital disorder of glycosylation, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jun 28, 2022)	criteria provided, conflicting interpretations
Select item 105462652.	NM_032382.5(COG8):c.1348C>T (p.Arg450Cys) GRCh37: Chr16:69368489 GRCh38: Chr16:69334586	COG8	R450C	COG8-congenital disorder of glycosylation	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 105153853.	NM_032382.5(COG8):c.741T>G (p.Phe247Leu) GRCh37: Chr16:69369096 GRCh38: Chr16:69335193	COG8	F247L	COG8-congenital disorder of glycosylation	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 104048954.	NM_032382.5(COG8):c.1468G>T (p.Gly490Trp) GRCh37: Chr16:69366731 GRCh38: Chr16:69332828	COG8	G490W	Inborn genetic diseases, COG8-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jun 2, 2023)	criteria provided, conflicting interpretations
Select item 103842555.	NM_032382.5(COG8):c.1755G>C (p.Glu585Asp) GRCh37: Chr16:69364826 GRCh38: Chr16:69330923	COG8	E632D, E585D, E598D	COG8-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 103295556.	NM_032382.5(COG8):c.1807A>G (p.Thr603Ala) GRCh37: Chr16:69364774 GRCh38: Chr16:69330871	COG8	T603A, T616A, T650A	COG8-congenital disorder of glycosylation	Uncertain significance (Feb 19, 2018)	criteria provided, single submitter
Select item 103295257.	NM_032382.5(COG8):c.*26+543C>T GRCh37: Chr16:69364173 GRCh38: Chr16:69330270	PDF, COG8	Q101*	COG8-congenital disorder of glycosylation	Uncertain significance (Feb 22, 2018)	criteria provided, single submitter
Select item 103096658.	NM_032382.5(COG8):c.1208C>A (p.Pro403Gln) GRCh37: Chr16:69368629 GRCh38: Chr16:69334726	COG8	P403Q	COG8-congenital disorder of glycosylation	Uncertain significance (Jan 15, 2019)	criteria provided, single submitter
Select item 100607559.	NM_032382.5(COG8):c.913G>T (p.Gly305Cys) GRCh37: Chr16:69368924 GRCh38: Chr16:69335021	COG8	G305C	COG8-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100159660.	NM_032382.5(COG8):c.1258C>T (p.Pro420Ser) GRCh37: Chr16:69368579 GRCh38: Chr16:69334676	COG8	P420S	COG8-congenital disorder of glycosylation	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 96762561.	NM_032382.5(COG8):c.419G>A (p.Arg140Gln) GRCh37: Chr16:69370574 GRCh38: Chr16:69336671	COG8	R140Q	COG8-congenital disorder of glycosylation	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 96697962.	NM_032382.5(COG8):c.1680_1681del (p.Glu560fs) GRCh37: Chr16:69364900-69364901 GRCh38: Chr16:69330997-69330998	COG8	E607fs, E560fs, E573fs	COG8-congenital disorder of glycosylation	Pathogenic (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 93293563.	NM_032382.5(COG8):c.1583-1G>A GRCh37: Chr16:69364999 GRCh38: Chr16:69331096	COG8	G541S	COG8-congenital disorder of glycosylation	Pathogenic (Jul 7, 2020)	no assertion criteria provided
Select item 88843664.	NM_032382.4(COG8):c.-22A>C GRCh37: Chr16:69373477 GRCh38: Chr16:69339574	COG8		COG8-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88843565.	NM_032382.5(COG8):c.14C>T (p.Ala5Val) GRCh37: Chr16:69373442 GRCh38: Chr16:69339539	COG8	A5V	Inborn genetic diseases, COG8-congenital disorder of glycosylation	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88843466.	NM_032382.5(COG8):c.308T>A (p.Leu103Gln) GRCh37: Chr16:69373148 GRCh38: Chr16:69339245	COG8	L103Q	COG8-congenital disorder of glycosylation	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88837767.	NM_032382.5(COG8):c.*73G>A GRCh37: Chr16:69363036 GRCh38: Chr16:69329133	COG8, PDF	W207*	COG8-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88837668.	NM_032382.5(COG8):c.*402A>G GRCh37: Chr16:69362707 GRCh38: Chr16:69328804	COG8, PDF		COG8-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88718269.	NM_032382.5(COG8):c.731G>A (p.Arg244Lys) GRCh37: Chr16:69369106 GRCh38: Chr16:69335203	COG8	R244K	COG8-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88711270.	NM_032382.5(COG8):c.*568G>T GRCh37: Chr16:69362541 GRCh38: Chr16:69328638	COG8, PDF		COG8-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88617071.	NM_032382.5(COG8):c.886G>A (p.Glu296Lys) GRCh37: Chr16:69368951 GRCh38: Chr16:69335048	COG8	E296K	COG8-congenital disorder of glycosylation	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88616972.	NM_032382.5(COG8):c.901C>T (p.Pro301Ser) GRCh37: Chr16:69368936 GRCh38: Chr16:69335033	COG8	P301S	COG8-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88616873.	NM_032382.5(COG8):c.1093G>C (p.Gly365Arg) GRCh37: Chr16:69368744 GRCh38: Chr16:69334841	COG8	G365R	not provided, COG8-congenital disorder of glycosylation	Uncertain significance (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88527274.	NM_032382.5(COG8):c.1413+12C>G GRCh37: Chr16:69368412 GRCh38: Chr16:69334509	COG8		COG8-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Feb 15, 2022)	criteria provided, conflicting interpretations
Select item 88527175.	NM_032382.5(COG8):c.1524G>A (p.Pro508=) GRCh37: Chr16:69366675 GRCh38: Chr16:69332772	COG8		COG8-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88527076.	NM_032382.5(COG8):c.1584C>G (p.Gly528=) GRCh37: Chr16:69364997 GRCh38: Chr16:69331094	COG8		COG8-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88526977.	NM_032382.5(COG8):c.1680G>A (p.Glu560=) GRCh37: Chr16:69364901 GRCh38: Chr16:69330998	COG8		COG8-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 74169578.	NM_032382.5(COG8):c.894A>C (p.Pro298=) GRCh37: Chr16:69368943 GRCh38: Chr16:69335040	COG8		COG8-congenital disorder of glycosylation	Likely benign (Sep 10, 2021)	criteria provided, single submitter
Select item 72483979.	NM_032382.5(COG8):c.24A>G (p.Pro8=) GRCh37: Chr16:69373432 GRCh38: Chr16:69339529	COG8		COG8-congenital disorder of glycosylation	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 72207980.	NM_032382.5(COG8):c.309G>C (p.Leu103=) GRCh37: Chr16:69373147 GRCh38: Chr16:69339244	COG8		COG8-congenital disorder of glycosylation	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 70460981.	NM_032382.5(COG8):c.307C>T (p.Leu103=) GRCh37: Chr16:69373149 GRCh38: Chr16:69339246	COG8		COG8-congenital disorder of glycosylation	Likely benign (Apr 27, 2018)	criteria provided, single submitter
Select item 70345682.	NM_032382.5(COG8):c.578T>C (p.Val193Ala) GRCh37: Chr16:69370415 GRCh38: Chr16:69336512	COG8	V193A	COG8-congenital disorder of glycosylation	Benign/Likely benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70345483.	NM_032382.5(COG8):c.704T>C (p.Met235Thr) GRCh37: Chr16:69369133 GRCh38: Chr16:69335230	COG8	M235T	COG8-congenital disorder of glycosylation	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 70303684.	NM_032382.5(COG8):c.386T>C (p.Val129Ala) GRCh37: Chr16:69370607 GRCh38: Chr16:69336704	COG8	V129A	not provided, COG8-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (May 26, 2022)	criteria provided, conflicting interpretations
Select item 69812485.	NM_032382.5(COG8):c.1724C>T (p.Thr575Ile) GRCh37: Chr16:69364857 GRCh38: Chr16:69330954	COG8	T575I	COG8-congenital disorder of glycosylation	Benign/Likely benign (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68142186.	NM_032382.5(COG8):c.1785C>T (p.Cys595=) GRCh37: Chr16:69364796 GRCh38: Chr16:69330893	COG8		not provided, COG8-congenital disorder of glycosylation	Likely benign (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 65950187.	NM_032382.5(COG8):c.585+1G>T GRCh37: Chr16:69370407 GRCh38: Chr16:69336504	COG8		COG8-congenital disorder of glycosylation	Likely pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 65716888.	NM_032382.5(COG8):c.1833dup (p.Pro612fs) GRCh37: Chr16:69364747-69364748 GRCh38: Chr16:69330844-69330845	COG8	P612fs	COG8-congenital disorder of glycosylation	Uncertain significance (Oct 31, 2018)	criteria provided, single submitter
Select item 64689389.	NM_032382.5(COG8):c.151C>T (p.Arg51Trp) GRCh37: Chr16:69373305 GRCh38: Chr16:69339402	COG8	R51W	COG8-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 64008990.	NM_032382.5(COG8):c.1259C>T (p.Pro420Leu) GRCh37: Chr16:69368578 GRCh38: Chr16:69334675	COG8	P420L	COG8-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59749491.	NM_032382.5(COG8):c.1741C>A (p.Pro581Thr) GRCh37: Chr16:69364840 GRCh38: Chr16:69330937	COG8	P581T, P594T, P628T	not specified, COG8-congenital disorder of glycosylation, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59749392.	NM_032382.5(COG8):c.1373C>T (p.Ala458Val) GRCh37: Chr16:69368464 GRCh38: Chr16:69334561	COG8	A458V	Inborn genetic diseases, not provided, COG8-congenital disorder of glycosylation	Uncertain significance (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59324893.	NM_032382.5(COG8):c.1319A>G (p.Asn440Ser) GRCh37: Chr16:69368518 GRCh38: Chr16:69334615	COG8	N440S	COG8-congenital disorder of glycosylation, not provided	Uncertain significance (Jun 25, 2020)	criteria provided, multiple submitters, no conflicts
Select item 50800794.	NM_032382.5(COG8):c.1467C>T (p.Ser489=) GRCh37: Chr16:69366732 GRCh38: Chr16:69332829	COG8		COG8-congenital disorder of glycosylation, not specified	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 46887195.	NM_032382.5(COG8):c.525G>A (p.Leu175=) GRCh37: Chr16:69370468 GRCh38: Chr16:69336565	COG8		not provided, COG8-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Sep 5, 2018)	criteria provided, conflicting interpretations
Select item 46887096.	NM_032382.5(COG8):c.12G>T (p.Ala4=) GRCh37: Chr16:69373444 GRCh38: Chr16:69339541	COG8		COG8-congenital disorder of glycosylation	Likely benign (Jan 31, 2017)	criteria provided, single submitter
Select item 39103297.	NM_032382.5(COG8):c.996C>T (p.Thr332=) GRCh37: Chr16:69368841 GRCh38: Chr16:69334938	COG8		COG8-congenital disorder of glycosylation, not specified	Conflicting interpretations of pathogenicity (Nov 26, 2019)	criteria provided, conflicting interpretations
Select item 38940398.	NM_032382.5(COG8):c.522C>T (p.Ala174=) GRCh37: Chr16:69370471 GRCh38: Chr16:69336568	COG8		COG8-congenital disorder of glycosylation, not specified	Likely benign (Jan 22, 2020)	criteria provided, multiple submitters, no conflicts
Select item 38476399.	NM_032382.5(COG8):c.603G>A (p.Val201=) GRCh37: Chr16:69369234 GRCh38: Chr16:69335331	COG8		COG8-congenital disorder of glycosylation, not specified	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 377233100.	NM_032382.5(COG8):c.5C>T (p.Ala2Val) GRCh37: Chr16:69373451 GRCh38: Chr16:69339548	COG8	A2V	not provided, COG8-congenital disorder of glycosylation	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts

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