ClinVar for MedGen (Select 462226) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24255811.	NC_000007.13:g.(?_106876875)_(107013225_?)dup GRCh37: Chr7:106876875-107013225	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Dec 10, 2021)	criteria provided, single submitter
Select item 24255802.	NC_000007.13:g.(?_106843961)_(107053097_?)del GRCh37: Chr7:106843961-107053097	COG5		COG5-congenital disorder of glycosylation	Pathogenic (Mar 19, 2022)	criteria provided, single submitter
Select item 24255793.	NC_000007.13:g.(?_106921725)_(107167822_?)del GRCh37: Chr7:106921725-107167822	GPR22, COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 24255784.	NC_000007.13:g.(?_106921725)_(106924197_?)del GRCh37: Chr7:106921725-106924197	COG5		COG5-congenital disorder of glycosylation	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 24255775.	NC_000007.13:g.(?_107188536)_(107204434_?)del GRCh37: Chr7:107188536-107204434	COG5, DUS4L		COG5-congenital disorder of glycosylation	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 24255766.	NC_000007.13:g.(?_106964865)_(106964986_?)del GRCh37: Chr7:106964865-106964986	COG5		COG5-congenital disorder of glycosylation	Pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 24194107.	NM_006348.5(COG5):c.2304G>C (p.Glu768Asp) GRCh37: Chr7:106851042 GRCh38: Chr7:107210597	COG5	E530D, E578D, E663D, E710D, E714D, E747D, E768D	COG5-congenital disorder of glycosylation	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 24166708.	NM_006348.5(COG5):c.2361G>A (p.Arg787=) GRCh37: Chr7:106850985 GRCh38: Chr7:107210540	COG5		COG5-congenital disorder of glycosylation	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 24163459.	NM_006348.5(COG5):c.1196A>G (p.Tyr399Cys) GRCh37: Chr7:106938704 GRCh38: Chr7:107298259	COG5	Y161C, Y209C, Y399C	COG5-congenital disorder of glycosylation	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 241502010.	NM_006348.5(COG5):c.347+6G>A GRCh37: Chr7:107188717 GRCh38: Chr7:107548272	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 231934211.	NM_006348.5(COG5):c.320T>C (p.Ile107Thr) GRCh37: Chr7:107188750 GRCh38: Chr7:107548305	COG5	I107T	COG5-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220028112.	NM_006348.5(COG5):c.1686G>A (p.Lys562=) GRCh37: Chr7:106898718 GRCh38: Chr7:107258273	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 219683213.	NM_006348.5(COG5):c.2283A>G (p.Lys761=) GRCh37: Chr7:106851556 GRCh38: Chr7:107211111	COG5		COG5-congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219539914.	NM_006348.5(COG5):c.1839A>G (p.Gln613=) GRCh37: Chr7:106888855 GRCh38: Chr7:107248410	COG5		COG5-congenital disorder of glycosylation	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 219374715.	NM_006348.5(COG5):c.1365A>G (p.Leu455=) GRCh37: Chr7:106924126 GRCh38: Chr7:107283681	COG5		COG5-congenital disorder of glycosylation	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 219245716.	NM_006348.5(COG5):c.676A>G (p.Thr226Ala) GRCh37: Chr7:107013199 GRCh38: Chr7:107372754	COG5	T226A	COG5-congenital disorder of glycosylation	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 219193017.	NM_006348.5(COG5):c.1227A>G (p.Ala409=) GRCh37: Chr7:106938673 GRCh38: Chr7:107298228	COG5		COG5-congenital disorder of glycosylation	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 218854918.	NM_006348.5(COG5):c.-8C>T GRCh37: Chr7:107204349 GRCh38: Chr7:107563904	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 218595719.	NM_006348.5(COG5):c.538+5G>T GRCh37: Chr7:107167677 GRCh38: Chr7:107527232	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 218460220.	NM_006348.5(COG5):c.1313_1313+5del GRCh37: Chr7:106938582-106938587 GRCh38: Chr7:107298137-107298142	COG5		COG5-congenital disorder of glycosylation	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 218361021.	NM_006348.5(COG5):c.2092-17A>G GRCh37: Chr7:106871153 GRCh38: Chr7:107230708	COG5		COG5-congenital disorder of glycosylation	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 217808922.	NM_006348.5(COG5):c.1911A>G (p.Leu637=) GRCh37: Chr7:106877075 GRCh38: Chr7:107236630	COG5		COG5-congenital disorder of glycosylation	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 217641723.	NM_006348.3(COG5):c.62C>G (p.Ala21Gly) GRCh37: Chr7:107204373 GRCh38: Chr7:107563928	COG5	A21G	COG5-congenital disorder of glycosylation	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 217625024.	NM_006348.5(COG5):c.686G>A (p.Gly229Glu) GRCh37: Chr7:107013189 GRCh38: Chr7:107372744	COG5	G229E	COG5-congenital disorder of glycosylation	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 217618525.	NM_006348.5(COG5):c.436C>T (p.Arg146Trp) GRCh37: Chr7:107167784 GRCh38: Chr7:107527339	COG5	R146W	COG5-congenital disorder of glycosylation	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 217575426.	NM_006348.5(COG5):c.2168G>A (p.Arg723Lys) GRCh37: Chr7:106871060 GRCh38: Chr7:107230615	COG5	R485K, R533K, R665K, R723K, R669K, R702K	COG5-congenital disorder of glycosylation	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 216762227.	NM_006348.5(COG5):c.1686+3A>G GRCh37: Chr7:106898715 GRCh38: Chr7:107258270	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 216617928.	NM_006348.5(COG5):c.-9C>T GRCh37: Chr7:107204350 GRCh38: Chr7:107563905	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 216617529.	NM_006348.5(COG5):c.1534G>A (p.Ala512Thr) GRCh37: Chr7:106921786 GRCh38: Chr7:107281341	COG5	A458T, A512T, A322T, A274T	COG5-congenital disorder of glycosylation	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 216475130.	NM_006348.5(COG5):c.1914A>G (p.Gln638=) GRCh37: Chr7:106877072 GRCh38: Chr7:107236627	COG5		COG5-congenital disorder of glycosylation	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 216441731.	NM_006348.5(COG5):c.235-20C>A GRCh37: Chr7:107194807 GRCh38: Chr7:107554362	COG5		COG5-congenital disorder of glycosylation	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 215964332.	NM_006348.5(COG5):c.1015G>T (p.Glu339Ter) GRCh37: Chr7:107002489 GRCh38: Chr7:107362044	COG5	E101, E339	COG5-congenital disorder of glycosylation	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 215919733.	NM_006348.5(COG5):c.93C>T (p.Asp31=) GRCh37: Chr7:107204249 GRCh38: Chr7:107563804	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 215637134.	NM_006348.5(COG5):c.2335G>A (p.Asp779Asn) GRCh37: Chr7:106851011 GRCh38: Chr7:107210566	COG5	D541N, D721N, D758N, D674N, D725N, D779N, D589N	COG5-congenital disorder of glycosylation	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 215501235.	NM_006348.5(COG5):c.2481T>A (p.Ala827=) GRCh37: Chr7:106843970 GRCh38: Chr7:107203525	COG5		COG5-congenital disorder of glycosylation	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 215480836.	NM_006348.5(COG5):c.-2A>C GRCh37: Chr7:107204343 GRCh38: Chr7:107563898	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 215426637.	NM_006348.5(COG5):c.1808C>T (p.Ala603Val) GRCh37: Chr7:106888886 GRCh38: Chr7:107248441	COG5	A603V, A549V, A582V, A413V, A365V, A545V	COG5-congenital disorder of glycosylation	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 215425438.	NM_006348.5(COG5):c.1225G>A (p.Ala409Thr) GRCh37: Chr7:106938675 GRCh38: Chr7:107298230	COG5	A171T, A219T, A409T	COG5-congenital disorder of glycosylation	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 215393339.	NM_181581.3(DUS4L):c.-332A>C GRCh37: Chr7:107204433 GRCh38: Chr7:107563988	COG5, DUS4L, DUS4L-BCAP29	M1R	COG5-congenital disorder of glycosylation	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 215276140.	NM_006348.5(COG5):c.1450G>C (p.Asp484His) GRCh37: Chr7:106924041 GRCh38: Chr7:107283596	COG5	D484H, D294H, D246H	COG5-congenital disorder of glycosylation	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 215073341.	NM_006348.5(COG5):c.178C>A (p.Gln60Lys) GRCh37: Chr7:107198477 GRCh38: Chr7:107558032	COG5	Q60K	COG5-congenital disorder of glycosylation	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 214921442.	NM_006348.5(COG5):c.82C>A (p.Leu28Ile) GRCh37: Chr7:107204260 GRCh38: Chr7:107563815	COG5	L28I	COG5-congenital disorder of glycosylation	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 214741243.	NM_006348.5(COG5):c.1749+7G>T GRCh37: Chr7:106897170 GRCh38: Chr7:107256725	COG5		COG5-congenital disorder of glycosylation	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 214418944.	NM_006348.5(COG5):c.292+6_292+14del GRCh37: Chr7:107194716-107194724 GRCh38: Chr7:107554271-107554279	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 214325845.	NM_006348.5(COG5):c.1869A>G (p.Ser623=) GRCh37: Chr7:106877117 GRCh38: Chr7:107236672	COG5		COG5-congenital disorder of glycosylation	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 214155946.	NM_006348.5(COG5):c.2296-17G>A GRCh37: Chr7:106851067 GRCh38: Chr7:107210622	COG5		COG5-congenital disorder of glycosylation	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 213703747.	NM_006348.5(COG5):c.1264A>G (p.Met422Val) GRCh37: Chr7:106938636 GRCh38: Chr7:107298191	COG5	M232V, M422V, M184V	COG5-congenital disorder of glycosylation	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 213555348.	NM_006348.5(COG5):c.1902_1904delinsCTT (p.Met634_Lys635delinsIleLeu) GRCh37: Chr7:106877082-106877084 GRCh38: Chr7:107236637-107236639	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213470449.	NM_006348.5(COG5):c.1750-20T>G GRCh37: Chr7:106888964 GRCh38: Chr7:107248519	COG5		COG5-congenital disorder of glycosylation	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 213470350.	NM_006348.5(COG5):c.1750-19del GRCh37: Chr7:106888963 GRCh38: Chr7:107248518	COG5		COG5-congenital disorder of glycosylation	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 213214451.	NM_006348.5(COG5):c.591T>A (p.Asp197Glu) GRCh37: Chr7:107053025 GRCh38: Chr7:107412580	COG5	D197E	COG5-congenital disorder of glycosylation	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 213078152.	NM_006348.5(COG5):c.150A>G (p.Gln50=) GRCh37: Chr7:107198505 GRCh38: Chr7:107558060	COG5		COG5-congenital disorder of glycosylation	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 212950653.	NM_006348.5(COG5):c.5A>G (p.Glu2Gly) GRCh37: Chr7:107204337 GRCh38: Chr7:107563892	COG5	E2G	COG5-congenital disorder of glycosylation	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 212861354.	NM_006348.5(COG5):c.95-12T>G GRCh37: Chr7:107198572 GRCh38: Chr7:107558127	COG5		COG5-congenital disorder of glycosylation	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212811955.	NM_006348.5(COG5):c.2376-20_2376-17dup GRCh37: Chr7:106844091-106844092 GRCh38: Chr7:107203646-107203647	COG5		COG5-congenital disorder of glycosylation	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212779856.	NM_006348.5(COG5):c.442A>G (p.Ile148Val) GRCh37: Chr7:107167778 GRCh38: Chr7:107527333	COG5	I148V	COG5-congenital disorder of glycosylation	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212739857.	NM_006348.5(COG5):c.548C>G (p.Ser183Cys) GRCh37: Chr7:107053068 GRCh38: Chr7:107412623	COG5	S183C	COG5-congenital disorder of glycosylation	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 212604058.	NM_006348.5(COG5):c.1165T>C (p.Tyr389His) GRCh37: Chr7:106938735 GRCh38: Chr7:107298290	COG5	Y151H, Y199H, Y389H	COG5-congenital disorder of glycosylation	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 212525159.	NM_006348.5(COG5):c.1831A>G (p.Met611Val) GRCh37: Chr7:106888863 GRCh38: Chr7:107248418	COG5	M553V, M590V, M611V, M373V, M421V, M557V	COG5-congenital disorder of glycosylation	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212437960.	NM_006348.5(COG5):c.348-9_348-8del GRCh37: Chr7:107188633-107188634 GRCh38: Chr7:107548188-107548189	COG5		COG5-congenital disorder of glycosylation	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 211795061.	NM_006348.5(COG5):c.348-19dup GRCh37: Chr7:107188643-107188644 GRCh38: Chr7:107548198-107548199	COG5		COG5-congenital disorder of glycosylation	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 211346662.	NM_006348.5(COG5):c.434T>G (p.Leu145Arg) GRCh37: Chr7:107167786 GRCh38: Chr7:107527341	COG5	L145R	COG5-congenital disorder of glycosylation	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211254463.	NM_006348.5(COG5):c.2092-15A>G GRCh37: Chr7:106871151 GRCh38: Chr7:107230706	COG5		COG5-congenital disorder of glycosylation	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211176264.	NM_006348.5(COG5):c.762T>A (p.Ala254=) GRCh37: Chr7:107013113 GRCh38: Chr7:107372668	COG5		COG5-congenital disorder of glycosylation	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 211080965.	NM_006348.5(COG5):c.2091+4_2091+11del GRCh37: Chr7:106876884-106876891 GRCh38: Chr7:107236439-107236446	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210970266.	NM_006348.5(COG5):c.417+4G>C GRCh37: Chr7:107188552 GRCh38: Chr7:107548107	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210777567.	NM_006348.5(COG5):c.1952A>C (p.His651Pro) GRCh37: Chr7:106877034 GRCh38: Chr7:107236589	COG5	H630P, H651P, H413P, H461P, H593P, H597P	COG5-congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 210710868.	NM_006348.5(COG5):c.1476-14T>G GRCh37: Chr7:106921858 GRCh38: Chr7:107281413	COG5		COG5-congenital disorder of glycosylation	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 210486769.	NM_006348.5(COG5):c.767T>C (p.Leu256Ser) GRCh37: Chr7:107013108 GRCh38: Chr7:107372663	COG5	L256S	COG5-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 210429070.	NM_006348.5(COG5):c.1570C>T (p.Gln524Ter) GRCh37: Chr7:106921750 GRCh38: Chr7:107281305	COG5	Q334, Q470, Q524, Q286	COG5-congenital disorder of glycosylation	Pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 210296971.	NM_006348.5(COG5):c.192T>C (p.Leu64=) GRCh37: Chr7:107198463 GRCh38: Chr7:107558018	COG5		COG5-congenital disorder of glycosylation	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 210181572.	NM_006348.5(COG5):c.1021G>A (p.Val341Ile) GRCh37: Chr7:107002483 GRCh38: Chr7:107362038	COG5	V341I, V103I	COG5-congenital disorder of glycosylation	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 210006273.	NM_006348.5(COG5):c.2296-6C>G GRCh37: Chr7:106851056 GRCh38: Chr7:107210611	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209861974.	NM_006348.5(COG5):c.1304C>G (p.Pro435Arg) GRCh37: Chr7:106938596 GRCh38: Chr7:107298151	COG5	P245R, P435R, P197R	COG5-congenital disorder of glycosylation	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209845075.	NM_006348.5(COG5):c.542A>G (p.Tyr181Cys) GRCh37: Chr7:107053074 GRCh38: Chr7:107412629	COG5	Y181C	COG5-congenital disorder of glycosylation	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 209673976.	NM_006348.5(COG5):c.2483T>G (p.Leu828Arg) GRCh37: Chr7:106843968 GRCh38: Chr7:107203523	COG5	L807R, L828R, L770R, L590R, L638R, L723R, L759R, L774R	COG5-congenital disorder of glycosylation	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 209625577.	NM_006348.5(COG5):c.1673A>G (p.Gln558Arg) GRCh37: Chr7:106898731 GRCh38: Chr7:107258286	COG5	Q504R, Q558R, Q320R, Q368R	COG5-congenital disorder of glycosylation	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 209544878.	NM_006348.5(COG5):c.-1C>G GRCh37: Chr7:107204342 GRCh38: Chr7:107563897	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209530379.	NM_006348.5(COG5):c.1195T>C (p.Tyr399His) GRCh37: Chr7:106938705 GRCh38: Chr7:107298260	COG5	Y161H, Y399H, Y209H	COG5-congenital disorder of glycosylation	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 209030880.	NM_006348.5(COG5):c.1841A>G (p.Glu614Gly) GRCh37: Chr7:106888853 GRCh38: Chr7:107248408	COG5	E424G, E560G, E614G, E376G, E556G, E593G	COG5-congenital disorder of glycosylation	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 208966581.	NM_006348.5(COG5):c.1674A>C (p.Gln558His) GRCh37: Chr7:106898730 GRCh38: Chr7:107258285	COG5	Q320H, Q368H, Q558H, Q504H	COG5-congenital disorder of glycosylation	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 208905082.	NM_006348.5(COG5):c.1313+4T>C GRCh37: Chr7:106938583 GRCh38: Chr7:107298138	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 208850383.	NM_006348.5(COG5):c.1417G>A (p.Gly473Ser) GRCh37: Chr7:106924074 GRCh38: Chr7:107283629	COG5	G473S, G235S, G283S	COG5-congenital disorder of glycosylation	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 208649784.	NM_006348.5(COG5):c.193G>T (p.Ala65Ser) GRCh37: Chr7:107198462 GRCh38: Chr7:107558017	COG5	A65S	COG5-congenital disorder of glycosylation	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 208648085.	NM_006348.5(COG5):c.1248T>G (p.Tyr416Ter) GRCh37: Chr7:106938652 GRCh38: Chr7:107298207	COG5	Y226, Y178, Y416*	COG5-congenital disorder of glycosylation	Pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 208394086.	NM_006348.5(COG5):c.1576-3C>T GRCh37: Chr7:106898831 GRCh38: Chr7:107258386	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 208357487.	NM_006348.5(COG5):c.1694C>T (p.Ser565Phe) GRCh37: Chr7:106897232 GRCh38: Chr7:107256787	COG5	S375F, S511F, S565F, S327F	COG5-congenital disorder of glycosylation	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 208232688.	NM_006348.5(COG5):c.29T>C (p.Val10Ala) GRCh37: Chr7:107204313 GRCh38: Chr7:107563868	COG5	V10A	COG5-congenital disorder of glycosylation	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 208229989.	NM_006348.5(COG5):c.372A>G (p.Pro124=) GRCh37: Chr7:107188601 GRCh38: Chr7:107548156	COG5		COG5-congenital disorder of glycosylation	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 208137190.	NM_006348.5(COG5):c.2186C>G (p.Ala729Gly) GRCh37: Chr7:106851653 GRCh38: Chr7:107211208	COG5	A539G, A671G, A675G, A491G, A624G, A708G, A729G	COG5-congenital disorder of glycosylation	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 207968191.	NM_006348.5(COG5):c.1475+3A>G GRCh37: Chr7:106924013 GRCh38: Chr7:107283568	COG5		COG5-congenital disorder of glycosylation	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207927992.	NM_006348.5(COG5):c.1482A>G (p.Leu494=) GRCh37: Chr7:106921838 GRCh38: Chr7:107281393	COG5		COG5-congenital disorder of glycosylation	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207359893.	NM_006348.5(COG5):c.575A>G (p.Glu192Gly) GRCh37: Chr7:107053041 GRCh38: Chr7:107412596	COG5	E192G	COG5-congenital disorder of glycosylation	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 206767794.	NM_006348.5(COG5):c.1588G>A (p.Gly530Arg) GRCh37: Chr7:106898816 GRCh38: Chr7:107258371	COG5	G292R, G476R, G340R, G530R	COG5-congenital disorder of glycosylation	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 206584295.	NM_006348.5(COG5):c.437G>C (p.Arg146Pro) GRCh37: Chr7:107167783 GRCh38: Chr7:107527338	COG5	R146P	COG5-congenital disorder of glycosylation	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 206516396.	NM_006348.5(COG5):c.2458C>T (p.Leu820=) GRCh37: Chr7:106843993 GRCh38: Chr7:107203548	COG5		COG5-congenital disorder of glycosylation	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 206466397.	NM_006348.5(COG5):c.2068C>T (p.Arg690Ter) GRCh37: Chr7:106876918 GRCh38: Chr7:107236473	COG5	R632, R669, R636, R690, R452, R500	COG5-congenital disorder of glycosylation	Pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 206392598.	NM_006348.5(COG5):c.1072C>G (p.Gln358Glu) GRCh37: Chr7:106964921 GRCh38: Chr7:107324476	COG5	Q120E, Q358E	COG5-congenital disorder of glycosylation	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 206297499.	NM_006348.5(COG5):c.2309C>T (p.Ser770Phe) GRCh37: Chr7:106851037 GRCh38: Chr7:107210592	COG5	S770F, S532F, S580F, S665F, S749F, S712F, S716F	COG5-congenital disorder of glycosylation	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 2062048100.	NM_006348.5(COG5):c.166G>A (p.Val56Ile) GRCh37: Chr7:107198489 GRCh38: Chr7:107558044	COG5	V56I	COG5-congenital disorder of glycosylation	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter

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