ClinVar for MedGen (Select 443954) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24282811.	NM_024105.4(ALG12):c.338C>T (p.Thr113Met) GRCh37: Chr22:50304213 GRCh38: Chr22:49910565	ALG12	T113M	ALG12-congenital disorder of glycosylation	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 24278972.	NM_024105.4(ALG12):c.1083G>A (p.Thr361=) GRCh37: Chr22:50298064 GRCh38: Chr22:49904416	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 24268003.	NC_000022.10:g.(?_50297486)_(50307413_?)del GRCh37: Chr22:50297486-50307413	ALG12		ALG12-congenital disorder of glycosylation	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 24211674.	NM_024105.4(ALG12):c.1328T>C (p.Leu443Pro) GRCh37: Chr22:50297625 GRCh38: Chr22:49903977	ALG12	L443P	ALG12-congenital disorder of glycosylation	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 24211105.	NM_024105.4(ALG12):c.1171C>T (p.Leu391=) GRCh37: Chr22:50297894 GRCh38: Chr22:49904246	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 24206226.	NM_024105.4(ALG12):c.1239-8T>C GRCh37: Chr22:50297722 GRCh38: Chr22:49904074	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 24166957.	NM_024105.4(ALG12):c.1163-13C>T GRCh37: Chr22:50297915 GRCh38: Chr22:49904267	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jun 6, 2022)	criteria provided, single submitter
Select item 24166588.	NM_024105.4(ALG12):c.1264C>G (p.Pro422Ala) GRCh37: Chr22:50297689 GRCh38: Chr22:49904041	ALG12	P422A	ALG12-congenital disorder of glycosylation	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 24132469.	NM_024105.4(ALG12):c.1458G>A (p.Arg486=) GRCh37: Chr22:50297495 GRCh38: Chr22:49903847	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 220286010.	NM_024105.4(ALG12):c.595T>C (p.Leu199=) GRCh37: Chr22:50303611 GRCh38: Chr22:49909963	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 219998111.	NM_024105.4(ALG12):c.769-4G>A GRCh37: Chr22:50301596 GRCh38: Chr22:49907948	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 219890512.	NM_024105.4(ALG12):c.821G>A (p.Cys274Tyr) GRCh37: Chr22:50301540 GRCh38: Chr22:49907892	ALG12	C274Y	ALG12-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 219825813.	NM_024105.4(ALG12):c.875C>T (p.Thr292Met) GRCh37: Chr22:50301486 GRCh38: Chr22:49907838	ALG12	T292M	ALG12-congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 219711614.	NM_024105.4(ALG12):c.1024A>C (p.Lys342Gln) GRCh37: Chr22:50298123 GRCh38: Chr22:49904475	ALG12	K342Q	ALG12-congenital disorder of glycosylation	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219536115.	NM_024105.4(ALG12):c.769-5C>T GRCh37: Chr22:50301597 GRCh38: Chr22:49907949	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 219519316.	NM_024105.4(ALG12):c.774C>G (p.Ser258=) GRCh37: Chr22:50301587 GRCh38: Chr22:49907939	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 218933617.	NM_024105.4(ALG12):c.664+1G>A GRCh37: Chr22:50303541 GRCh38: Chr22:49909893	ALG12		ALG12-congenital disorder of glycosylation	Likely pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 218772918.	NM_024105.4(ALG12):c.769-11C>G GRCh37: Chr22:50301603 GRCh38: Chr22:49907955	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 218455519.	NM_024105.4(ALG12):c.201G>A (p.Thr67=) GRCh37: Chr22:50307127 GRCh38: Chr22:49913479	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 218453620.	NM_024105.4(ALG12):c.1287C>T (p.Tyr429=) GRCh37: Chr22:50297666 GRCh38: Chr22:49904018	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 218360021.	NM_024105.4(ALG12):c.294A>G (p.Ile98Met) GRCh37: Chr22:50307034 GRCh38: Chr22:49913386	ALG12	I98M	ALG12-congenital disorder of glycosylation	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 217949922.	NM_024105.4(ALG12):c.810C>T (p.Arg270=) GRCh37: Chr22:50301551 GRCh38: Chr22:49907903	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 217868523.	NM_024105.4(ALG12):c.808C>T (p.Arg270Cys) GRCh37: Chr22:50301553 GRCh38: Chr22:49907905	ALG12	R270C	ALG12-congenital disorder of glycosylation	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 217118624.	NM_024105.4(ALG12):c.469G>C (p.Val157Leu) GRCh37: Chr22:50304082 GRCh38: Chr22:49910434	ALG12	V157L	ALG12-congenital disorder of glycosylation	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 216826225.	NM_024105.4(ALG12):c.665-11T>C GRCh37: Chr22:50303006 GRCh38: Chr22:49909358	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 216736726.	NM_024105.4(ALG12):c.736A>C (p.Asn246His) GRCh37: Chr22:50302924 GRCh38: Chr22:49909276	ALG12	N246H	ALG12-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 216578027.	NM_024105.4(ALG12):c.282C>T (p.Tyr94=) GRCh37: Chr22:50307046 GRCh38: Chr22:49913398	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 216257228.	NM_024105.4(ALG12):c.470-14G>A GRCh37: Chr22:50303750 GRCh38: Chr22:49910102	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 216092729.	NM_024105.4(ALG12):c.636C>T (p.His212=) GRCh37: Chr22:50303570 GRCh38: Chr22:49909922	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 215917230.	NM_024105.4(ALG12):c.306G>C (p.Val102=) GRCh37: Chr22:50304245 GRCh38: Chr22:49910597	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 215871331.	NM_024105.4(ALG12):c.249C>T (p.Tyr83=) GRCh37: Chr22:50307079 GRCh38: Chr22:49913431	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 215495932.	NM_024105.4(ALG12):c.948C>G (p.Ala316=) GRCh37: Chr22:50301413 GRCh38: Chr22:49907765	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 214739533.	NM_024105.4(ALG12):c.1238+12_1238+24del GRCh37: Chr22:50297803-50297815 GRCh38: Chr22:49904155-49904167	ALG12		ALG12-congenital disorder of glycosylation	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 214572234.	NM_024105.4(ALG12):c.295+6G>C GRCh37: Chr22:50307027 GRCh38: Chr22:49913379	ALG12		ALG12-congenital disorder of glycosylation	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 214432235.	NM_024105.4(ALG12):c.1414G>A (p.Val472Ile) GRCh37: Chr22:50297539 GRCh38: Chr22:49903891	ALG12	V472I	ALG12-congenital disorder of glycosylation	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 214040036.	NM_024105.4(ALG12):c.1460C>G (p.Pro487Arg) GRCh37: Chr22:50297493 GRCh38: Chr22:49903845	ALG12	P487R	ALG12-congenital disorder of glycosylation	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 213998737.	NM_024105.4(ALG12):c.1466G>A (p.Ter489=) GRCh37: Chr22:50297487 GRCh38: Chr22:49903839	ALG12		ALG12-congenital disorder of glycosylation	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 213845838.	NM_024105.4(ALG12):c.30del (p.Leu12fs) GRCh37: Chr22:50307384 GRCh38: Chr22:49913736	ALG12	L12fs	ALG12-congenital disorder of glycosylation	Pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 213271939.	NM_024105.4(ALG12):c.965T>A (p.Ile322Asn) GRCh37: Chr22:50301396 GRCh38: Chr22:49907748	ALG12	I322N	ALG12-congenital disorder of glycosylation	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212277540.	NM_024105.4(ALG12):c.1386G>A (p.Leu462=) GRCh37: Chr22:50297567 GRCh38: Chr22:49903919	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 212247741.	NM_024105.4(ALG12):c.995T>C (p.Leu332Pro) GRCh37: Chr22:50298152 GRCh38: Chr22:49904504	ALG12	L332P	ALG12-congenital disorder of glycosylation	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 212071042.	NM_024105.4(ALG12):c.866A>G (p.His289Arg) GRCh37: Chr22:50301495 GRCh38: Chr22:49907847	ALG12	H289R	ALG12-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 211962043.	NM_024105.4(ALG12):c.1274G>T (p.Gly425Val) GRCh37: Chr22:50297679 GRCh38: Chr22:49904031	ALG12	G425V	ALG12-congenital disorder of glycosylation	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 211579544.	NM_024105.4(ALG12):c.533T>C (p.Phe178Ser) GRCh37: Chr22:50303673 GRCh38: Chr22:49910025	ALG12	F178S	ALG12-congenital disorder of glycosylation	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211227145.	NM_024105.4(ALG12):c.1347G>A (p.Arg449=) GRCh37: Chr22:50297606 GRCh38: Chr22:49903958	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 211078146.	NM_024105.4(ALG12):c.163-19C>T GRCh37: Chr22:50307184 GRCh38: Chr22:49913536	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 211076547.	NM_024105.4(ALG12):c.903C>G (p.Leu301=) GRCh37: Chr22:50301458 GRCh38: Chr22:49907810	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 210442548.	NM_024105.4(ALG12):c.846C>T (p.Gly282=) GRCh37: Chr22:50301515 GRCh38: Chr22:49907867	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 210338649.	NM_024105.4(ALG12):c.424_428delinsCAGTTCCAC (p.Phe142fs) GRCh37: Chr22:50304123-50304127 GRCh38: Chr22:49910475-49910479	ALG12	F142fs	ALG12-congenital disorder of glycosylation	Pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 210016550.	NM_024105.4(ALG12):c.642C>G (p.Val214=) GRCh37: Chr22:50303564 GRCh38: Chr22:49909916	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209945851.	NM_024105.4(ALG12):c.486G>C (p.Ala162=) GRCh37: Chr22:50303720 GRCh38: Chr22:49910072	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 209691552.	NM_024105.4(ALG12):c.40C>T (p.Leu14=) GRCh37: Chr22:50307374 GRCh38: Chr22:49913726	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209372953.	NM_024105.4(ALG12):c.439_469+19del GRCh37: Chr22:50304063-50304112 GRCh38: Chr22:49910415-49910464	ALG12		ALG12-congenital disorder of glycosylation	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 209023154.	NM_024105.4(ALG12):c.1129C>T (p.Gln377Ter) GRCh37: Chr22:50298018 GRCh38: Chr22:49904370	ALG12	Q377*	ALG12-congenital disorder of glycosylation	Pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 208837055.	NM_024105.4(ALG12):c.1280T>C (p.Leu427Pro) GRCh37: Chr22:50297673 GRCh38: Chr22:49904025	ALG12	L427P	ALG12-congenital disorder of glycosylation	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 208767756.	NM_024105.4(ALG12):c.470-6T>C GRCh37: Chr22:50303742 GRCh38: Chr22:49910094	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 208394757.	NM_024105.4(ALG12):c.1156C>G (p.Gln386Glu) GRCh37: Chr22:50297991 GRCh38: Chr22:49904343	ALG12	Q386E	ALG12-congenital disorder of glycosylation	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 208379858.	NM_024105.4(ALG12):c.273C>T (p.Ser91=) GRCh37: Chr22:50307055 GRCh38: Chr22:49913407	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 207425559.	NM_024105.4(ALG12):c.656T>G (p.Leu219Arg) GRCh37: Chr22:50303550 GRCh38: Chr22:49909902	ALG12	L219R	ALG12-congenital disorder of glycosylation	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 207389960.	NM_024105.4(ALG12):c.336G>A (p.Trp112Ter) GRCh37: Chr22:50304215 GRCh38: Chr22:49910567	ALG12	W112*	ALG12-congenital disorder of glycosylation	Pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 206657961.	NM_024105.4(ALG12):c.1307C>T (p.Ala436Val) GRCh37: Chr22:50297646 GRCh38: Chr22:49903998	ALG12	A436V	ALG12-congenital disorder of glycosylation	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 206222962.	NM_024105.4(ALG12):c.619G>T (p.Val207Phe) GRCh37: Chr22:50303587 GRCh38: Chr22:49909939	ALG12	V207F	ALG12-congenital disorder of glycosylation	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 205743263.	NM_024105.4(ALG12):c.162+11C>T GRCh37: Chr22:50307241 GRCh38: Chr22:49913593	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 205743064.	NM_024105.4(ALG12):c.162+12del GRCh37: Chr22:50307240 GRCh38: Chr22:49913592	ALG12		ALG12-congenital disorder of glycosylation	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 204600965.	NM_024105.4(ALG12):c.1150C>T (p.Pro384Ser) GRCh37: Chr22:50297997 GRCh38: Chr22:49904349	ALG12	P384S	ALG12-congenital disorder of glycosylation	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 204552566.	NM_024105.4(ALG12):c.1221A>G (p.Gln407=) GRCh37: Chr22:50297844 GRCh38: Chr22:49904196	ALG12		ALG12-congenital disorder of glycosylation	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 204464967.	NM_024105.4(ALG12):c.1069G>A (p.Ala357Thr) GRCh37: Chr22:50298078 GRCh38: Chr22:49904430	ALG12	A357T	ALG12-congenital disorder of glycosylation	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 204455668.	NM_024105.4(ALG12):c.1451_1459del (p.Leu484_Arg486del) GRCh37: Chr22:50297494-50297502 GRCh38: Chr22:49903846-49903854	ALG12		ALG12-congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 204417769.	NM_024105.4(ALG12):c.1263G>C (p.Gln421His) GRCh37: Chr22:50297690 GRCh38: Chr22:49904042	ALG12	Q421H	ALG12-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 204384470.	NM_024105.4(ALG12):c.270G>A (p.Met90Ile) GRCh37: Chr22:50307058 GRCh38: Chr22:49913410	ALG12	M90I	ALG12-congenital disorder of glycosylation	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 203751371.	NM_024105.4(ALG12):c.1238+14A>C GRCh37: Chr22:50297813 GRCh38: Chr22:49904165	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 203587072.	NM_024105.4(ALG12):c.1425G>A (p.Gln475=) GRCh37: Chr22:50297528 GRCh38: Chr22:49903880	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 203463273.	NM_024105.4(ALG12):c.469+15G>T GRCh37: Chr22:50304067 GRCh38: Chr22:49910419	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 202110774.	NM_024105.4(ALG12):c.189C>A (p.Val63=) GRCh37: Chr22:50307139 GRCh38: Chr22:49913491	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 201793075.	NM_024105.4(ALG12):c.1317G>A (p.Gly439=) GRCh37: Chr22:50297636 GRCh38: Chr22:49903988	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 201509276.	NM_024105.4(ALG12):c.757T>C (p.Ser253Pro) GRCh37: Chr22:50302903 GRCh38: Chr22:49909255	ALG12	S253P	ALG12-congenital disorder of glycosylation	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 201005577.	NM_024105.4(ALG12):c.870G>A (p.Ala290=) GRCh37: Chr22:50301491 GRCh38: Chr22:49907843	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 200973678.	NM_024105.4(ALG12):c.612T>G (p.Val204=) GRCh37: Chr22:50303594 GRCh38: Chr22:49909946	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 200942779.	NM_024105.4(ALG12):c.395G>T (p.Trp132Leu) GRCh37: Chr22:50304156 GRCh38: Chr22:49910508	ALG12	W132L	ALG12-congenital disorder of glycosylation	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200865980.	NM_024105.4(ALG12):c.374T>C (p.Met125Thr) GRCh37: Chr22:50304177 GRCh38: Chr22:49910529	ALG12	M125T	ALG12-congenital disorder of glycosylation	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 200651181.	NM_024105.4(ALG12):c.45G>T (p.Gly15=) GRCh37: Chr22:50307369 GRCh38: Chr22:49913721	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 200207482.	NM_024105.4(ALG12):c.626C>G (p.Ala209Gly) GRCh37: Chr22:50303580 GRCh38: Chr22:49909932	ALG12	A209G	ALG12-congenital disorder of glycosylation	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 199865183.	NM_024105.4(ALG12):c.231C>T (p.Phe77=) GRCh37: Chr22:50307097 GRCh38: Chr22:49913449	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 199510184.	NM_024105.4(ALG12):c.802C>G (p.Leu268Val) GRCh37: Chr22:50301559 GRCh38: Chr22:49907911	ALG12	L268V	ALG12-congenital disorder of glycosylation	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 199344385.	NM_024105.4(ALG12):c.839C>T (p.Pro280Leu) GRCh37: Chr22:50301522 GRCh38: Chr22:49907874	ALG12	P280L	ALG12-congenital disorder of glycosylation	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 199305386.	NM_024105.4(ALG12):c.330A>G (p.Gly110=) GRCh37: Chr22:50304221 GRCh38: Chr22:49910573	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 199117587.	NM_024105.4(ALG12):c.384C>T (p.Thr128=) GRCh37: Chr22:50304167 GRCh38: Chr22:49910519	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 199058388.	NM_024105.4(ALG12):c.428A>C (p.Tyr143Ser) GRCh37: Chr22:50304123 GRCh38: Chr22:49910475	ALG12	Y143S	ALG12-congenital disorder of glycosylation	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 199004689.	NM_024105.4(ALG12):c.1056C>T (p.Leu352=) GRCh37: Chr22:50298091 GRCh38: Chr22:49904443	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 198964790.	NM_024105.4(ALG12):c.1467A>C (p.Ter489Cys) GRCh37: Chr22:50297486 GRCh38: Chr22:49903838	ALG12		ALG12-congenital disorder of glycosylation	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 198769691.	NM_024105.4(ALG12):c.360G>T (p.Arg120=) GRCh37: Chr22:50304191 GRCh38: Chr22:49910543	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 198755392.	NM_024105.4(ALG12):c.769-12C>T GRCh37: Chr22:50301604 GRCh38: Chr22:49907956	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 198469393.	NM_024105.4(ALG12):c.543C>T (p.Ile181=) GRCh37: Chr22:50303663 GRCh38: Chr22:49910015	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 198163494.	NM_024105.4(ALG12):c.840C>T (p.Pro280=) GRCh37: Chr22:50301521 GRCh38: Chr22:49907873	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 197425095.	NM_024105.4(ALG12):c.838C>T (p.Pro280Ser) GRCh37: Chr22:50301523 GRCh38: Chr22:49907875	ALG12	P280S	ALG12-congenital disorder of glycosylation	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 197303296.	NM_024105.4(ALG12):c.387G>A (p.Met129Ile) GRCh37: Chr22:50304164 GRCh38: Chr22:49910516	ALG12	M129I	ALG12-congenital disorder of glycosylation	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 197202497.	NM_024105.4(ALG12):c.898G>A (p.Ala300Thr) GRCh37: Chr22:50301463 GRCh38: Chr22:49907815	ALG12	A300T	Inborn genetic diseases, ALG12-congenital disorder of glycosylation	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 196964498.	NM_024105.4(ALG12):c.630T>G (p.Leu210=) GRCh37: Chr22:50303576 GRCh38: Chr22:49909928	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 196889399.	NM_024105.4(ALG12):c.1127T>C (p.Met376Thr) GRCh37: Chr22:50298020 GRCh38: Chr22:49904372	ALG12	M376T	ALG12-congenital disorder of glycosylation	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 1968284100.	NM_024105.4(ALG12):c.163-4G>T GRCh37: Chr22:50307169 GRCh38: Chr22:49913521	ALG12		ALG12-congenital disorder of glycosylation	Likely benign (Jun 23, 2022)	criteria provided, single submitter

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