ClinVar for MedGen (Select 419692) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24416811.	NM_024079.5(ALG8):c.97C>T (p.His33Tyr) GRCh37: Chr11:77838481 GRCh38: Chr11:78127435	ALG8	H33Y	ALG8 congenital disorder of glycosylation	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 21967532.	NM_024079.5(ALG8):c.1020C>T (p.Cys340=) GRCh37: Chr11:77820506 GRCh38: Chr11:78109460	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 21814083.	NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln) GRCh37: Chr11:77815404 GRCh38: Chr11:78104358	ALG8	P425Q	ALG8 congenital disorder of glycosylation	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 21777754.	NM_024079.5(ALG8):c.1277-16del GRCh37: Chr11:77815114 GRCh38: Chr11:78104068	ALG8		ALG8 congenital disorder of glycosylation	Benign (Sep 19, 2022)	criteria provided, single submitter
Select item 21508125.	NM_024079.5(ALG8):c.478+6C>T GRCh37: Chr11:77832105 GRCh38: Chr11:78121059	ALG8		ALG8 congenital disorder of glycosylation	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 21484146.	NM_024079.5(ALG8):c.435G>A (p.Leu145=) GRCh37: Chr11:77832154 GRCh38: Chr11:78121108	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 21429917.	NM_024079.5(ALG8):c.644G>A (p.Arg215Gln) GRCh37: Chr11:77825341 GRCh38: Chr11:78114295	ALG8	R215Q	ALG8 congenital disorder of glycosylation	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 21321458.	NM_024079.5(ALG8):c.608T>G (p.Leu203Arg) GRCh37: Chr11:77825377 GRCh38: Chr11:78114331	ALG8	L203R	ALG8 congenital disorder of glycosylation	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 21272929.	NM_024079.5(ALG8):c.859G>A (p.Ala287Thr) GRCh37: Chr11:77823735 GRCh38: Chr11:78112689	ALG8	A287T	ALG8 congenital disorder of glycosylation	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 212391810.	NM_024079.5(ALG8):c.259C>T (p.Gln87Ter) GRCh37: Chr11:77835176 GRCh38: Chr11:78124130	ALG8	Q87*	ALG8 congenital disorder of glycosylation	Pathogenic (Apr 9, 2022)	criteria provided, single submitter
Select item 211855811.	NM_024079.5(ALG8):c.174+2del GRCh37: Chr11:77838402 GRCh38: Chr11:78127356	ALG8		ALG8 congenital disorder of glycosylation	Likely pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 210294912.	NM_024079.5(ALG8):c.504T>C (p.Phe168=) GRCh37: Chr11:77830270 GRCh38: Chr11:78119224	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 210035313.	NM_024079.5(ALG8):c.446T>C (p.Leu149Pro) GRCh37: Chr11:77832143 GRCh38: Chr11:78121097	ALG8	L149P	ALG8 congenital disorder of glycosylation	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 208789814.	NM_024079.5(ALG8):c.1039-19C>G GRCh37: Chr11:77818011 GRCh38: Chr11:78106965	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 208345715.	NM_024079.5(ALG8):c.115G>T (p.Val39Leu) GRCh37: Chr11:77838463 GRCh38: Chr11:78127417	ALG8	V39L	ALG8 congenital disorder of glycosylation	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 207870016.	NM_024079.5(ALG8):c.441A>G (p.Val147=) GRCh37: Chr11:77832148 GRCh38: Chr11:78121102	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 206598017.	NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile) GRCh37: Chr11:77817863 GRCh38: Chr11:78106817	ALG8	L390I	ALG8 congenital disorder of glycosylation	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 205002618.	NM_024079.5(ALG8):c.1356A>G (p.Glu452=) GRCh37: Chr11:77812235 GRCh38: Chr11:78101189	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 203344619.	NM_024079.5(ALG8):c.1554T>C (p.Ser518=) GRCh37: Chr11:77812037 GRCh38: Chr11:78100991	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 202433420.	NM_024079.5(ALG8):c.345A>C (p.Val115=) GRCh37: Chr11:77835090 GRCh38: Chr11:78124044	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 202027021.	NM_024079.5(ALG8):c.1386C>T (p.Phe462=) GRCh37: Chr11:77812205 GRCh38: Chr11:78101159	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Aug 14, 2022)	criteria provided, single submitter
Select item 201752822.	NM_024079.5(ALG8):c.96-9T>G GRCh37: Chr11:77838491 GRCh38: Chr11:78127445	ALG8		ALG8 congenital disorder of glycosylation	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 201561423.	NM_024079.5(ALG8):c.141_144del (p.His48fs) GRCh37: Chr11:77838434-77838437 GRCh38: Chr11:78127388-78127391	ALG8	H48fs	ALG8 congenital disorder of glycosylation	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 200408424.	NM_024079.5(ALG8):c.643C>A (p.Arg215=) GRCh37: Chr11:77825342 GRCh38: Chr11:78114296	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 199114225.	NM_024079.5(ALG8):c.1485C>G (p.Thr495=) GRCh37: Chr11:77812106 GRCh38: Chr11:78101060	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 198737826.	NM_024079.5(ALG8):c.389G>A (p.Gly130Glu) GRCh37: Chr11:77832200 GRCh38: Chr11:78121154	ALG8	G130E	ALG8 congenital disorder of glycosylation	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 198175527.	NM_024079.5(ALG8):c.1123A>G (p.Met375Val) GRCh37: Chr11:77817908 GRCh38: Chr11:78106862	ALG8	M375V	ALG8 congenital disorder of glycosylation	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 197971228.	NM_024079.5(ALG8):c.739T>C (p.Leu247=) GRCh37: Chr11:77824970 GRCh38: Chr11:78113924	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 197622729.	NM_024079.5(ALG8):c.230T>C (p.Ile77Thr) GRCh37: Chr11:77835205 GRCh38: Chr11:78124159	ALG8	I77T	ALG8 congenital disorder of glycosylation	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 196900630.	NM_024079.5(ALG8):c.136A>G (p.Ile46Val) GRCh37: Chr11:77838442 GRCh38: Chr11:78127396	ALG8	I46V	ALG8 congenital disorder of glycosylation	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 196608631.	NM_024079.5(ALG8):c.368+16G>T GRCh37: Chr11:77835051 GRCh38: Chr11:78124005	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 194749432.	NM_024079.5(ALG8):c.671C>A (p.Pro224Gln) GRCh37: Chr11:77825314 GRCh38: Chr11:78114268	ALG8	P224Q	ALG8 congenital disorder of glycosylation	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 194472833.	NM_024079.5(ALG8):c.191C>T (p.Thr64Met) GRCh37: Chr11:77835244 GRCh38: Chr11:78124198	ALG8	T64M	ALG8 congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 192678334.	NM_024079.5(ALG8):c.1467C>T (p.Phe489=) GRCh37: Chr11:77812124 GRCh38: Chr11:78101078	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 192161935.	NM_024079.5(ALG8):c.757T>C (p.Leu253=) GRCh37: Chr11:77824952 GRCh38: Chr11:78113906	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 192088736.	NM_024079.5(ALG8):c.54G>T (p.Ala18=) GRCh37: Chr11:77850581 GRCh38: Chr11:78139535	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 189905337.	NM_024079.5(ALG8):c.743T>C (p.Val248Ala) GRCh37: Chr11:77824966 GRCh38: Chr11:78113920	ALG8	V248A	ALG8 congenital disorder of glycosylation	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 171446538.	NM_024079.5(ALG8):c.552G>T (p.Arg184Ser) GRCh37: Chr11:77825433 GRCh38: Chr11:78114387	ALG8	R184S	ALG8 congenital disorder of glycosylation	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 170952639.	NM_024079.5(ALG8):c.808T>C (p.Phe270Leu) GRCh37: Chr11:77823786 GRCh38: Chr11:78112740	ALG8	F270L	ALG8 congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 170952540.	NM_024079.5(ALG8):c.799T>C (p.Ser267Pro) GRCh37: Chr11:77823795 GRCh38: Chr11:78112749	ALG8	S267P	ALG8 congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 169171241.	NM_024079.5(ALG8):c.478C>T (p.His160Tyr) GRCh37: Chr11:77832111 GRCh38: Chr11:78121065	ALG8	H160Y	ALG8 congenital disorder of glycosylation	Pathogenic (Apr 17, 2022)	criteria provided, single submitter
Select item 166272542.	NM_024079.5(ALG8):c.899-15A>G GRCh37: Chr11:77820642 GRCh38: Chr11:78109596	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 163668643.	NM_024079.5(ALG8):c.369-15A>G GRCh37: Chr11:77832235 GRCh38: Chr11:78121189	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 163236044.	NM_024079.5(ALG8):c.993A>T (p.Ser331=) GRCh37: Chr11:77820533 GRCh38: Chr11:78109487	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Feb 28, 2021)	criteria provided, single submitter
Select item 162652945.	NM_024079.5(ALG8):c.546+12T>G GRCh37: Chr11:77830216 GRCh38: Chr11:78119170	ALG8		ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation	Likely benign (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159450946.	NM_024079.5(ALG8):c.96-6G>A GRCh37: Chr11:77838488 GRCh38: Chr11:78127442	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 158979747.	NM_024079.5(ALG8):c.95+16G>A GRCh37: Chr11:77850524 GRCh38: Chr11:78139478	ALG8		ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation	Likely benign (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157376448.	NM_024079.5(ALG8):c.1491G>A (p.Val497=) GRCh37: Chr11:77812100 GRCh38: Chr11:78101054	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Oct 8, 2021)	criteria provided, single submitter
Select item 154092149.	NM_024079.5(ALG8):c.175-13A>G GRCh37: Chr11:77835273 GRCh38: Chr11:78124227	ALG8		Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation	Likely benign (Jul 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152419250.	NM_024079.5(ALG8):c.479-3C>G GRCh37: Chr11:77830298 GRCh38: Chr11:78119252	ALG8		ALG8 congenital disorder of glycosylation	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 149040551.	NM_024079.5(ALG8):c.1369A>G (p.Asn457Asp) GRCh37: Chr11:77812222 GRCh38: Chr11:78101176	ALG8	N457D	ALG8 congenital disorder of glycosylation	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 143790452.	NM_024079.5(ALG8):c.802del (p.Arg268fs) GRCh37: Chr11:77823792 GRCh38: Chr11:78112746	ALG8	R268fs	ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation	Pathogenic/Likely pathogenic (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140671453.	NM_024079.5(ALG8):c.802C>T (p.Arg268Ter) GRCh37: Chr11:77823792 GRCh38: Chr11:78112746	ALG8	R268*	ALG8 congenital disorder of glycosylation	Pathogenic (Aug 29, 2022)	criteria provided, single submitter
Select item 139377254.	NM_024079.5(ALG8):c.982G>A (p.Val328Ile) GRCh37: Chr11:77820544 GRCh38: Chr11:78109498	ALG8	V328I	ALG8 congenital disorder of glycosylation	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter
Select item 138125955.	NM_024079.5(ALG8):c.1463C>G (p.Pro488Arg) GRCh37: Chr11:77812128 GRCh38: Chr11:78101082	ALG8	P488R	ALG8 congenital disorder of glycosylation	Uncertain significance (Sep 15, 2021)	criteria provided, single submitter
Select item 137261356.	NM_024079.5(ALG8):c.772G>A (p.Ala258Thr) GRCh37: Chr11:77824937 GRCh38: Chr11:78113891	ALG8	A258T	ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 136998857.	NM_024079.5(ALG8):c.1393C>T (p.Leu465Phe) GRCh37: Chr11:77812198 GRCh38: Chr11:78101152	ALG8	L465F	ALG8 congenital disorder of glycosylation	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 136345858.	NM_024079.5(ALG8):c.1256C>T (p.Pro419Leu) GRCh37: Chr11:77815422 GRCh38: Chr11:78104376	ALG8	P419L	ALG8 congenital disorder of glycosylation	Uncertain significance (Nov 26, 2021)	criteria provided, single submitter
Select item 134496159.	NM_024079.5(ALG8):c.95+1G>A GRCh37: Chr11:77850539 GRCh38: Chr11:78139493	ALG8		ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, not provided	Likely pathogenic (Jan 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134286460.	NM_024079.5(ALG8):c.1219_1220del (p.Leu407fs) GRCh37: Chr11:77815458-77815459 GRCh38: Chr11:78104412-78104413	ALG8	L407fs	ALG8 congenital disorder of glycosylation	Pathogenic (Mar 2, 2022)	no assertion criteria provided
Select item 134136561.	NM_024079.5(ALG8):c.206C>T (p.Pro69Leu) GRCh37: Chr11:77835229 GRCh38: Chr11:78124183	ALG8	P69L	ALG8 congenital disorder of glycosylation	Likely pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 132994562.	NM_024079.5(ALG8):c.1511C>G (p.Thr504Arg) GRCh37: Chr11:77812080 GRCh38: Chr11:78101034	ALG8	T504R	ALG8 congenital disorder of glycosylation	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 121801163.	NM_024079.5(ALG8):c.175-18C>A GRCh37: Chr11:77835278 GRCh38: Chr11:78124232	ALG8		ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation, not provided	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118896464.	NM_024079.5(ALG8):c.174+30del GRCh37: Chr11:77838374 GRCh38: Chr11:78127328	ALG8		not provided, ALG8 congenital disorder of glycosylation	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118896365.	NM_024079.5(ALG8):c.898+139C>T GRCh37: Chr11:77823557 GRCh38: Chr11:78112511	ALG8		not provided, ALG8 congenital disorder of glycosylation	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116038466.	NM_024079.5(ALG8):c.1277-10_1277-8del GRCh37: Chr11:77815106-77815108 GRCh38: Chr11:78104060-78104062	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 114301067.	NM_024079.5(ALG8):c.1276+9C>T GRCh37: Chr11:77815393 GRCh38: Chr11:78104347	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 108348868.	NM_024079.5(ALG8):c.546+7A>T GRCh37: Chr11:77830221 GRCh38: Chr11:78119175	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 106469869.	NM_024079.5(ALG8):c.479A>T (p.His160Leu) GRCh37: Chr11:77830295 GRCh38: Chr11:78119249	ALG8	H160L	ALG8 congenital disorder of glycosylation	Pathogenic (Dec 25, 2020)	no assertion criteria provided
Select item 103969370.	NM_024079.5(ALG8):c.439G>T (p.Val147Leu) GRCh37: Chr11:77832150 GRCh38: Chr11:78121104	ALG8	V147L	ALG8 congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 103215771.	NM_024079.5(ALG8):c.980C>G (p.Thr327Arg) GRCh37: Chr11:77820546 GRCh38: Chr11:78109500	ALG8	T327R	not provided, ALG8 congenital disorder of glycosylation	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103215672.	NM_024079.5(ALG8):c.346C>T (p.Leu116Phe) GRCh37: Chr11:77835089 GRCh38: Chr11:78124043	ALG8	L116F	ALG8 congenital disorder of glycosylation	Uncertain significance (Jul 2, 2018)	criteria provided, single submitter
Select item 102605473.	NM_024079.5(ALG8):c.143A>G (p.His48Arg) GRCh37: Chr11:77838435 GRCh38: Chr11:78127389	ALG8	H48R	ALG8 congenital disorder of glycosylation	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 102553074.	NM_024079.5(ALG8):c.86T>C (p.Ile29Thr) GRCh37: Chr11:77850549 GRCh38: Chr11:78139503	ALG8	I29T	ALG8 congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 102540275.	NM_024079.5(ALG8):c.1556C>T (p.Ala519Val) GRCh37: Chr11:77812035 GRCh38: Chr11:78100989	ALG8	A519V	ALG8 congenital disorder of glycosylation	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 101074176.	NM_024079.5(ALG8):c.568T>G (p.Phe190Val) GRCh37: Chr11:77825417 GRCh38: Chr11:78114371	ALG8	F190V	ALG8 congenital disorder of glycosylation	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 100641877.	NM_024079.5(ALG8):c.517A>G (p.Met173Val) GRCh37: Chr11:77830257 GRCh38: Chr11:78119211	ALG8	M173V	ALG8 congenital disorder of glycosylation	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 95633478.	NM_024079.5(ALG8):c.981dup (p.Val328fs) GRCh37: Chr11:77820544-77820545 GRCh38: Chr11:78109498-78109499	ALG8	V328fs	ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation	Pathogenic/Likely pathogenic (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93950279.	NM_024079.5(ALG8):c.1429G>C (p.Val477Leu) GRCh37: Chr11:77812162 GRCh38: Chr11:78101116	ALG8	V477L	ALG8 congenital disorder of glycosylation	Uncertain significance (Aug 7, 2019)	criteria provided, single submitter
Select item 93077480.	NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter) GRCh37: Chr11:77812058 GRCh38: Chr11:78101012	ALG8	Y511*	ALG8 congenital disorder of glycosylation	Likely pathogenic (Oct 15, 2019)	criteria provided, single submitter
Select item 88348281.	NM_024079.5(ALG8):c.1091G>A (p.Arg364Gln) GRCh37: Chr11:77817940 GRCh38: Chr11:78106894	ALG8	R364Q	ALG8 congenital disorder of glycosylation	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88274782.	NM_024079.5(ALG8):c.19G>A (p.Ala7Thr) GRCh37: Chr11:77850616 GRCh38: Chr11:78139570	ALG8	A7T	ALG8 congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88274683.	NM_024079.5(ALG8):c.228T>C (p.Tyr76=) GRCh37: Chr11:77835207 GRCh38: Chr11:78124161	ALG8		ALG8 congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88274584.	NM_024079.5(ALG8):c.337A>G (p.Met113Val) GRCh37: Chr11:77835098 GRCh38: Chr11:78124052	ALG8	M113V	ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Apr 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88270985.	NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr) GRCh37: Chr11:77812075 GRCh38: Chr11:78101029	ALG8	A506T	ALG8 congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 88159386.	NM_024079.5(ALG8):c.382A>G (p.Ile128Val) GRCh37: Chr11:77832207 GRCh38: Chr11:78121161	ALG8	I128V	Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88112187.	NM_024079.5(ALG8):c.678G>T (p.Gly226=) GRCh37: Chr11:77825031 GRCh38: Chr11:78113985	ALG8		ALG8 congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 86356888.	NM_024079.5(ALG8):c.368+2T>G GRCh37: Chr11:77835065 GRCh38: Chr11:78124019	ALG8		ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts	Likely pathogenic (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85454089.	NM_024079.5(ALG8):c.761dup (p.Pro255fs) GRCh37: Chr11:77824947-77824948 GRCh38: Chr11:78113901-78113902	ALG8	P255fs	Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation	Pathogenic/Likely pathogenic (Mar 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77324990.	NM_024079.5(ALG8):c.1178+7A>G GRCh37: Chr11:77817846 GRCh38: Chr11:78106800	ALG8		ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation	Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75221691.	NM_024079.5(ALG8):c.459C>T (p.Phe153=) GRCh37: Chr11:77832130 GRCh38: Chr11:78121084	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 74002592.	NM_024079.5(ALG8):c.898+8A>G GRCh37: Chr11:77823688 GRCh38: Chr11:78112642	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 73917493.	NM_024079.5(ALG8):c.588A>G (p.Leu196=) GRCh37: Chr11:77825397 GRCh38: Chr11:78114351	ALG8		not provided, ALG8 congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 72867994.	NM_024079.5(ALG8):c.154A>G (p.Ile52Val) GRCh37: Chr11:77838424 GRCh38: Chr11:78127378	ALG8	I52V	ALG8 congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 72826395.	NM_024079.5(ALG8):c.588A>C (p.Leu196=) GRCh37: Chr11:77825397 GRCh38: Chr11:78114351	ALG8		ALG8 congenital disorder of glycosylation	Benign (Dec 31, 2019)	criteria provided, single submitter
Select item 71535696.	NM_024079.5(ALG8):c.1506C>T (p.Gly502=) GRCh37: Chr11:77812085 GRCh38: Chr11:78101039	ALG8		ALG8 congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 71395497.	NM_024079.5(ALG8):c.1227G>C (p.Leu409=) GRCh37: Chr11:77815451 GRCh38: Chr11:78104405	ALG8		ALG8 congenital disorder of glycosylation	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 70963898.	NM_024079.5(ALG8):c.1578A>G (p.Gln526=) GRCh37: Chr11:77812013 GRCh38: Chr11:78100967	ALG8		not provided, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation	Likely benign (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70763399.	NM_024079.5(ALG8):c.682A>G (p.Ile228Val) GRCh37: Chr11:77825027 GRCh38: Chr11:78113981	ALG8	I228V	ALG8 congenital disorder of glycosylation	Likely benign (Aug 25, 2021)	criteria provided, single submitter
Select item 704610100.	NM_024079.5(ALG8):c.1276+10G>A GRCh37: Chr11:77815392 GRCh38: Chr11:78104346	ALG8		ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation	Benign/Likely benign (Jul 19, 2021)	criteria provided, multiple submitters, no conflicts

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