ClinVar for MedGen (Select 419311) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25051141.	NM_153603.4(COG7):c.1330C>T (p.Arg444Ter) GRCh37: Chr16:23424848 GRCh38: Chr16:23413527	COG7	R444*	COG7 congenital disorder of glycosylation	not provided	no assertion provided
Select item 24281022.	NM_153603.4(COG7):c.37G>T (p.Val13Leu) GRCh37: Chr16:23464279 GRCh38: Chr16:23452958	COG7	V13L	COG7 congenital disorder of glycosylation	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 24274323.	NC_000016.9:g.(?_23193865)_(23652612_?)del GRCh37: Chr16:23193865-23652612	SCNN1G, PALB2, UBFD1, COG7, NDUFAB1, EARS2, SCNN1B, GGA2		COG7 congenital disorder of glycosylation	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 24215134.	NM_153603.4(COG7):c.1448G>A (p.Gly483Glu) GRCh37: Chr16:23421643 GRCh38: Chr16:23410322	COG7	G483E	COG7 congenital disorder of glycosylation	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 24208345.	NM_153603.4(COG7):c.66G>A (p.Arg22=) GRCh37: Chr16:23464250 GRCh38: Chr16:23452929	COG7		COG7 congenital disorder of glycosylation	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 24184646.	NM_153603.4(COG7):c.1920T>C (p.Asn640=) GRCh37: Chr16:23404636 GRCh38: Chr16:23393315	COG7		COG7 congenital disorder of glycosylation	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 24174927.	NM_153603.4(COG7):c.2209G>A (p.Val737Met) GRCh37: Chr16:23400345 GRCh38: Chr16:23389024	COG7	V737M	COG7 congenital disorder of glycosylation	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 24143228.	NM_153603.4(COG7):c.1293-5G>A GRCh37: Chr16:23424890 GRCh38: Chr16:23413569	COG7		COG7 congenital disorder of glycosylation	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 22017709.	NM_153603.4(COG7):c.1409+15G>A GRCh37: Chr16:23424754 GRCh38: Chr16:23413433	COG7		COG7 congenital disorder of glycosylation	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 220157110.	NM_153603.4(COG7):c.435+16A>G GRCh37: Chr16:23456353 GRCh38: Chr16:23445032	COG7		COG7 congenital disorder of glycosylation	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 220073111.	NM_153603.4(COG7):c.1709C>T (p.Ala570Val) GRCh37: Chr16:23415109 GRCh38: Chr16:23403788	COG7	A570V	COG7 congenital disorder of glycosylation	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 220034012.	NM_153603.4(COG7):c.2147-11C>T GRCh37: Chr16:23400418 GRCh38: Chr16:23389097	COG7		COG7 congenital disorder of glycosylation	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 219911413.	NM_153603.4(COG7):c.938G>A (p.Arg313Lys) GRCh37: Chr16:23436141 GRCh38: Chr16:23424820	COG7	R313K	COG7 congenital disorder of glycosylation	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 219837114.	NM_153603.4(COG7):c.2304G>A (p.Val768=) GRCh37: Chr16:23400250 GRCh38: Chr16:23388929	COG7		COG7 congenital disorder of glycosylation	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 219794615.	NM_153603.4(COG7):c.605A>G (p.Asp202Gly) GRCh37: Chr16:23446039 GRCh38: Chr16:23434718	COG7	D202G	COG7 congenital disorder of glycosylation	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 219711916.	NM_153603.4(COG7):c.2243G>A (p.Arg748Lys) GRCh37: Chr16:23400311 GRCh38: Chr16:23388990	COG7	R748K	COG7 congenital disorder of glycosylation	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 219406317.	NM_153603.4(COG7):c.1064A>T (p.Tyr355Phe) GRCh37: Chr16:23430094 GRCh38: Chr16:23418773	COG7	Y355F	COG7 congenital disorder of glycosylation	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 219400718.	NM_153603.4(COG7):c.1563G>C (p.Lys521Asn) GRCh37: Chr16:23417496 GRCh38: Chr16:23406175	COG7	K521N	COG7 congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219220419.	NM_153603.4(COG7):c.2293A>G (p.Met765Val) GRCh37: Chr16:23400261 GRCh38: Chr16:23388940	COG7	M765V	COG7 congenital disorder of glycosylation	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 219092420.	NM_153603.4(COG7):c.1009C>T (p.His337Tyr) GRCh37: Chr16:23436070 GRCh38: Chr16:23424749	COG7	H337Y	COG7 congenital disorder of glycosylation	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 219083421.	NM_153603.4(COG7):c.795C>G (p.Ile265Met) GRCh37: Chr16:23444881 GRCh38: Chr16:23433560	COG7	I265M	COG7 congenital disorder of glycosylation	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 218698922.	NM_153603.4(COG7):c.1259G>C (p.Gly420Ala) GRCh37: Chr16:23428321 GRCh38: Chr16:23417000	COG7	G420A	COG7 congenital disorder of glycosylation	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 218493023.	NM_153603.4(COG7):c.438C>G (p.Asp146Glu) GRCh37: Chr16:23453964 GRCh38: Chr16:23442643	COG7	D146E	COG7 congenital disorder of glycosylation	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 218465824.	NM_153603.4(COG7):c.664G>A (p.Ala222Thr) GRCh37: Chr16:23445980 GRCh38: Chr16:23434659	COG7	A222T	Inborn genetic diseases, COG7 congenital disorder of glycosylation, not provided	Uncertain significance (Jan 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218403825.	NM_153603.4(COG7):c.1872C>T (p.Leu624=) GRCh37: Chr16:23409382 GRCh38: Chr16:23398061	COG7		COG7 congenital disorder of glycosylation	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 218058526.	NM_153603.4(COG7):c.1009+15C>T GRCh37: Chr16:23436055 GRCh38: Chr16:23424734	COG7		COG7 congenital disorder of glycosylation	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 217814127.	NM_153603.4(COG7):c.1401C>G (p.Asn467Lys) GRCh37: Chr16:23424777 GRCh38: Chr16:23413456	COG7	N467K	COG7 congenital disorder of glycosylation	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 217372428.	NM_153603.4(COG7):c.1981C>T (p.Leu661=) GRCh37: Chr16:23404575 GRCh38: Chr16:23393254	COG7		COG7 congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 217314329.	NM_153603.4(COG7):c.1410-17dup GRCh37: Chr16:23421697-23421698 GRCh38: Chr16:23410376-23410377	COG7		COG7 congenital disorder of glycosylation	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 217290930.	NM_153603.4(COG7):c.412A>G (p.Ile138Val) GRCh37: Chr16:23456392 GRCh38: Chr16:23445071	COG7	I138V	COG7 congenital disorder of glycosylation	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 217221831.	NM_153603.4(COG7):c.2131C>T (p.Leu711=) GRCh37: Chr16:23403716 GRCh38: Chr16:23392395	COG7		COG7 congenital disorder of glycosylation	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 216646132.	NM_153603.4(COG7):c.1241A>G (p.Asn414Ser) GRCh37: Chr16:23428339 GRCh38: Chr16:23417018	COG7	N414S	COG7 congenital disorder of glycosylation	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 216577933.	NM_153603.4(COG7):c.2003-14_2003-12del GRCh37: Chr16:23403856-23403858 GRCh38: Chr16:23392535-23392537	COG7		COG7 congenital disorder of glycosylation	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 216284734.	NM_153603.4(COG7):c.957C>T (p.Asp319=) GRCh37: Chr16:23436122 GRCh38: Chr16:23424801	COG7		COG7 congenital disorder of glycosylation	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 216020235.	NM_153603.4(COG7):c.1873G>A (p.Glu625Lys) GRCh37: Chr16:23409381 GRCh38: Chr16:23398060	COG7	E625K	COG7 congenital disorder of glycosylation	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 215845436.	NM_153603.4(COG7):c.366C>G (p.Ala122=) GRCh37: Chr16:23456438 GRCh38: Chr16:23445117	COG7		COG7 congenital disorder of glycosylation	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 215356437.	NM_153603.4(COG7):c.1494G>A (p.Gly498=) GRCh37: Chr16:23417565 GRCh38: Chr16:23406244	COG7		COG7 congenital disorder of glycosylation	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 215285238.	NM_153603.4(COG7):c.668A>T (p.Tyr223Phe) GRCh37: Chr16:23445976 GRCh38: Chr16:23434655	COG7	Y223F	COG7 congenital disorder of glycosylation	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 214849939.	NM_153603.4(COG7):c.74C>T (p.Ser25Phe) GRCh37: Chr16:23464242 GRCh38: Chr16:23452921	COG7	S25F	COG7 congenital disorder of glycosylation	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 214769440.	NM_153603.4(COG7):c.1826G>A (p.Gly609Glu) GRCh37: Chr16:23409428 GRCh38: Chr16:23398107	COG7	G609E	COG7 congenital disorder of glycosylation	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 214739941.	NM_153603.4(COG7):c.2269C>T (p.Arg757Cys) GRCh37: Chr16:23400285 GRCh38: Chr16:23388964	COG7	R757C	COG7 congenital disorder of glycosylation	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 214348842.	NM_153603.4(COG7):c.1794G>A (p.Ser598=) GRCh37: Chr16:23415024 GRCh38: Chr16:23403703	COG7		COG7 congenital disorder of glycosylation	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 214339643.	NM_153603.4(COG7):c.2099T>C (p.Ile700Thr) GRCh37: Chr16:23403748 GRCh38: Chr16:23392427	COG7	I700T	COG7 congenital disorder of glycosylation	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 214231744.	NM_153603.4(COG7):c.162C>A (p.Ala54=) GRCh37: Chr16:23464154 GRCh38: Chr16:23452833	COG7		COG7 congenital disorder of glycosylation	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 214154045.	NM_153603.4(COG7):c.319-19C>T GRCh37: Chr16:23456504 GRCh38: Chr16:23445183	COG7		COG7 congenital disorder of glycosylation	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 212570446.	NM_153603.4(COG7):c.1058A>G (p.Asp353Gly) GRCh37: Chr16:23430100 GRCh38: Chr16:23418779	COG7	D353G	COG7 congenital disorder of glycosylation	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 212005747.	NM_153603.4(COG7):c.1255dup (p.Cys419fs) GRCh37: Chr16:23428324-23428325 GRCh38: Chr16:23417003-23417004	COG7	C419fs	COG7 congenital disorder of glycosylation	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 211388048.	NM_153603.4(COG7):c.698del (p.Leu232_Leu233insTer) GRCh37: Chr16:23444978 GRCh38: Chr16:23433657	COG7		COG7 congenital disorder of glycosylation	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211331049.	NM_153603.4(COG7):c.1699C>T (p.Pro567Ser) GRCh37: Chr16:23415119 GRCh38: Chr16:23403798	COG7	P567S	COG7 congenital disorder of glycosylation	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 211202250.	NM_153603.4(COG7):c.2195C>T (p.Thr732Ile) GRCh37: Chr16:23400359 GRCh38: Chr16:23389038	COG7	T732I	COG7 congenital disorder of glycosylation	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211136851.	NM_153603.4(COG7):c.538C>T (p.Leu180=) GRCh37: Chr16:23453864 GRCh38: Chr16:23442543	COG7		COG7 congenital disorder of glycosylation	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 211108952.	NM_153603.4(COG7):c.1426G>A (p.Gly476Arg) GRCh37: Chr16:23421665 GRCh38: Chr16:23410344	COG7	G476R	COG7 congenital disorder of glycosylation	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 211084353.	NM_153603.4(COG7):c.2122G>A (p.Ala708Thr) GRCh37: Chr16:23403725 GRCh38: Chr16:23392404	COG7	A708T	COG7 congenital disorder of glycosylation	Uncertain significance (Nov 18, 2021)	criteria provided, single submitter
Select item 210832254.	NM_153603.4(COG7):c.1071C>A (p.Pro357=) GRCh37: Chr16:23430087 GRCh38: Chr16:23418766	COG7		COG7 congenital disorder of glycosylation	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 210186755.	NM_153603.4(COG7):c.2014C>T (p.Pro672Ser) GRCh37: Chr16:23403833 GRCh38: Chr16:23392512	COG7	P672S	COG7 congenital disorder of glycosylation	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210131056.	NM_153603.4(COG7):c.1528C>A (p.Leu510Met) GRCh37: Chr16:23417531 GRCh38: Chr16:23406210	COG7	L510M	COG7 congenital disorder of glycosylation	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 210122657.	NM_153603.4(COG7):c.1383T>C (p.Asp461=) GRCh37: Chr16:23424795 GRCh38: Chr16:23413474	COG7		COG7 congenital disorder of glycosylation	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 209988258.	NM_153603.4(COG7):c.210C>A (p.Leu70=) GRCh37: Chr16:23457242 GRCh38: Chr16:23445921	COG7		COG7 congenital disorder of glycosylation	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209950959.	NM_153603.4(COG7):c.1138-8C>T GRCh37: Chr16:23428450 GRCh38: Chr16:23417129	COG7		COG7 congenital disorder of glycosylation	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 209343960.	NM_153603.4(COG7):c.630G>A (p.Val210=) GRCh37: Chr16:23446014 GRCh38: Chr16:23434693	COG7		COG7 congenital disorder of glycosylation	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 209316061.	NM_153603.4(COG7):c.1640T>A (p.Met547Lys) GRCh37: Chr16:23417419 GRCh38: Chr16:23406098	COG7	M547K	COG7 congenital disorder of glycosylation	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 208984262.	NM_153603.4(COG7):c.1662+9C>T GRCh37: Chr16:23417388 GRCh38: Chr16:23406067	COG7		COG7 congenital disorder of glycosylation	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 208674763.	NM_153603.4(COG7):c.169+18C>G GRCh37: Chr16:23464129 GRCh38: Chr16:23452808	COG7		COG7 congenital disorder of glycosylation	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 208121064.	NM_153603.4(COG7):c.879G>A (p.Ser293=) GRCh37: Chr16:23436200 GRCh38: Chr16:23424879	COG7		COG7 congenital disorder of glycosylation	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 208058065.	NM_153603.4(COG7):c.2056G>A (p.Ala686Thr) GRCh37: Chr16:23403791 GRCh38: Chr16:23392470	COG7	A686T	COG7 congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208043966.	NM_153603.4(COG7):c.1177C>T (p.His393Tyr) GRCh37: Chr16:23428403 GRCh38: Chr16:23417082	COG7	H393Y	COG7 congenital disorder of glycosylation	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 208025267.	NM_153603.4(COG7):c.1765C>T (p.Arg589Cys) GRCh37: Chr16:23415053 GRCh38: Chr16:23403732	COG7	R589C	Inborn genetic diseases, COG7 congenital disorder of glycosylation	Uncertain significance (Jun 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 207954268.	NM_153603.4(COG7):c.211C>T (p.Arg71Cys) GRCh37: Chr16:23457241 GRCh38: Chr16:23445920	COG7	R71C	COG7 congenital disorder of glycosylation	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 207429269.	NM_153603.4(COG7):c.2161G>A (p.Val721Met) GRCh37: Chr16:23400393 GRCh38: Chr16:23389072	COG7	V721M	COG7 congenital disorder of glycosylation	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 207198870.	NM_153603.4(COG7):c.802G>T (p.Ala268Ser) GRCh37: Chr16:23444874 GRCh38: Chr16:23433553	COG7	A268S	COG7 congenital disorder of glycosylation	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 206777271.	NM_153603.4(COG7):c.1000C>T (p.Pro334Ser) GRCh37: Chr16:23436079 GRCh38: Chr16:23424758	COG7	P334S	COG7 congenital disorder of glycosylation	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 206659772.	NM_153603.4(COG7):c.734C>T (p.Ser245Phe) GRCh37: Chr16:23444942 GRCh38: Chr16:23433621	COG7	S245F	COG7 congenital disorder of glycosylation	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 205883373.	NM_153603.4(COG7):c.1710G>A (p.Ala570=) GRCh37: Chr16:23415108 GRCh38: Chr16:23403787	COG7		COG7 congenital disorder of glycosylation	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 205823974.	NM_153603.4(COG7):c.1646T>C (p.Ile549Thr) GRCh37: Chr16:23417413 GRCh38: Chr16:23406092	COG7	I549T	COG7 congenital disorder of glycosylation	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 204999175.	NM_153603.4(COG7):c.1803+15G>A GRCh37: Chr16:23415000 GRCh38: Chr16:23403679	COG7		COG7 congenital disorder of glycosylation	Benign (Jun 13, 2022)	criteria provided, single submitter
Select item 204298376.	NM_153603.4(COG7):c.422C>T (p.Thr141Ile) GRCh37: Chr16:23456382 GRCh38: Chr16:23445061	COG7	T141I	COG7 congenital disorder of glycosylation	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 203943177.	NM_153603.4(COG7):c.999C>T (p.Leu333=) GRCh37: Chr16:23436080 GRCh38: Chr16:23424759	COG7		COG7 congenital disorder of glycosylation	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 203818278.	NM_153603.4(COG7):c.90C>T (p.Ser30=) GRCh37: Chr16:23464226 GRCh38: Chr16:23452905	COG7		COG7 congenital disorder of glycosylation	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 203676779.	NM_153603.4(COG7):c.1575C>T (p.Ala525=) GRCh37: Chr16:23417484 GRCh38: Chr16:23406163	COG7		COG7 congenital disorder of glycosylation	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 203317080.	NM_153603.4(COG7):c.1803+16A>G GRCh37: Chr16:23414999 GRCh38: Chr16:23403678	COG7		COG7 congenital disorder of glycosylation	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 203196581.	NM_153603.4(COG7):c.1662+13del GRCh37: Chr16:23417384 GRCh38: Chr16:23406063	COG7		COG7 congenital disorder of glycosylation	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 203109782.	NM_153603.4(COG7):c.570A>G (p.Pro190=) GRCh37: Chr16:23453832 GRCh38: Chr16:23442511	COG7		COG7 congenital disorder of glycosylation	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 203073483.	NM_153603.4(COG7):c.2003-20T>C GRCh37: Chr16:23403864 GRCh38: Chr16:23392543	COG7		COG7 congenital disorder of glycosylation	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202764484.	NM_153603.4(COG7):c.1755C>A (p.Ser585=) GRCh37: Chr16:23415063 GRCh38: Chr16:23403742	COG7		COG7 congenital disorder of glycosylation	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 202200085.	NM_153603.4(COG7):c.318+5T>C GRCh37: Chr16:23457129 GRCh38: Chr16:23445808	COG7		COG7 congenital disorder of glycosylation	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 202181586.	NM_153603.4(COG7):c.811-14C>T GRCh37: Chr16:23436282 GRCh38: Chr16:23424961	COG7		COG7 congenital disorder of glycosylation	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 202032087.	NM_153603.4(COG7):c.1410-2A>T GRCh37: Chr16:23421683 GRCh38: Chr16:23410362	COG7		COG7 congenital disorder of glycosylation	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 201788188.	NM_153603.4(COG7):c.1365C>T (p.Asn455=) GRCh37: Chr16:23424813 GRCh38: Chr16:23413492	COG7		COG7 congenital disorder of glycosylation	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 201477389.	NM_153603.4(COG7):c.2147-10_2147-9delinsTT GRCh37: Chr16:23400416-23400417 GRCh38: Chr16:23389095-23389096	COG7		COG7 congenital disorder of glycosylation	Likely benign (Dec 1, 2021)	criteria provided, single submitter
Select item 201258390.	NM_153603.4(COG7):c.2146+9C>G GRCh37: Chr16:23403692 GRCh38: Chr16:23392371	COG7		COG7 congenital disorder of glycosylation	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 200662291.	NM_153603.4(COG7):c.2185C>T (p.Pro729Ser) GRCh37: Chr16:23400369 GRCh38: Chr16:23389048	COG7	P729S	COG7 congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 200461092.	NM_153603.4(COG7):c.1375del (p.Gln459fs) GRCh37: Chr16:23424803 GRCh38: Chr16:23413482	COG7	Q459fs	COG7 congenital disorder of glycosylation	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 200358593.	NM_153603.4(COG7):c.1293-4G>A GRCh37: Chr16:23424889 GRCh38: Chr16:23413568	COG7		COG7 congenital disorder of glycosylation	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 200005694.	NM_153603.4(COG7):c.1200T>A (p.Gly400=) GRCh37: Chr16:23428380 GRCh38: Chr16:23417059	COG7		COG7 congenital disorder of glycosylation	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 199989695.	NM_153603.4(COG7):c.1138-15G>A GRCh37: Chr16:23428457 GRCh38: Chr16:23417136	COG7		COG7 congenital disorder of glycosylation	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 199942896.	NM_153603.4(COG7):c.2304G>C (p.Val768=) GRCh37: Chr16:23400250 GRCh38: Chr16:23388929	COG7		COG7 congenital disorder of glycosylation	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 199770297.	NM_153603.4(COG7):c.436-13T>G GRCh37: Chr16:23453979 GRCh38: Chr16:23442658	COG7		COG7 congenital disorder of glycosylation	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 199744098.	NM_153603.4(COG7):c.601G>T (p.Val201Leu) GRCh37: Chr16:23453801 GRCh38: Chr16:23442480	COG7	V201L	COG7 congenital disorder of glycosylation	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 199533099.	NM_153603.4(COG7):c.1946A>G (p.Asp649Gly) GRCh37: Chr16:23404610 GRCh38: Chr16:23393289	COG7	D649G	COG7 congenital disorder of glycosylation	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 1993088100.	NM_153603.4(COG7):c.1965A>G (p.Ala655=) GRCh37: Chr16:23404591 GRCh38: Chr16:23393270	COG7		COG7 congenital disorder of glycosylation	Likely benign (Aug 9, 2022)	criteria provided, single submitter

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