ClinVar for MedGen (Select 419308) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24389841.	NM_019109.5(ALG1):c.679C>G (p.Leu227Val) GRCh37: Chr16:5127957 GRCh38: Chr16:5077956	ALG1	L116V, L227V	ALG1-congenital disorder of glycosylation	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 24265152.	NC_000016.9:g.(?_5132540)_(5134882_?)dup GRCh37: Chr16:5132540-5134882	EEF2KMT, ALG1		ALG1-congenital disorder of glycosylation	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 24265143.	NC_000016.9:g.(?_5121851)_(5125557_?)del GRCh37: Chr16:5121851-5125557	ALG1		ALG1-congenital disorder of glycosylation	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 24193374.	NM_019109.5(ALG1):c.645C>T (p.Tyr215=) GRCh37: Chr16:5127923 GRCh38: Chr16:5077922	ALG1		ALG1-congenital disorder of glycosylation	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 24188065.	NM_019109.5(ALG1):c.783G>A (p.Thr261=) GRCh37: Chr16:5128800 GRCh38: Chr16:5078799	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 24170006.	NM_019109.5(ALG1):c.25C>G (p.Leu9Val) GRCh37: Chr16:5121875 GRCh38: Chr16:5071874	ALG1	L9V	ALG1-congenital disorder of glycosylation	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 24143347.	NM_019109.5(ALG1):c.254T>C (p.Ile85Thr) GRCh37: Chr16:5122997 GRCh38: Chr16:5072996	ALG1	I85T	ALG1-congenital disorder of glycosylation	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 22011168.	NM_019109.5(ALG1):c.902-20G>C GRCh37: Chr16:5129729 GRCh38: Chr16:5079728	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 21999789.	NM_019109.5(ALG1):c.415G>A (p.Ala139Thr) GRCh37: Chr16:5125413 GRCh38: Chr16:5075412	ALG1	A28T, A139T	ALG1-congenital disorder of glycosylation	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 219987210.	NM_019109.5(ALG1):c.996C>T (p.Leu332=) GRCh37: Chr16:5130981 GRCh38: Chr16:5080980	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 219563711.	NM_019109.5(ALG1):c.902-10C>G GRCh37: Chr16:5129739 GRCh38: Chr16:5079738	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 219563612.	NM_019109.5(ALG1):c.902-17T>C GRCh37: Chr16:5129732 GRCh38: Chr16:5079731	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 219523413.	NM_019109.5(ALG1):c.523G>A (p.Val175Ile) GRCh37: Chr16:5125521 GRCh38: Chr16:5075520	ALG1	V64I, V175I	ALG1-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219306014.	NM_019109.5(ALG1):c.1051G>A (p.Glu351Lys) GRCh37: Chr16:5131036 GRCh38: Chr16:5081035	ALG1	E351K, E240K	ALG1-congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 218862915.	NM_019109.5(ALG1):c.209-15A>G GRCh37: Chr16:5122937 GRCh38: Chr16:5072936	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 218710016.	NM_019109.5(ALG1):c.267A>G (p.Thr89=) GRCh37: Chr16:5123010 GRCh38: Chr16:5073009	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 218341917.	NM_019109.5(ALG1):c.740_740+5delinsTGTAGA GRCh37: Chr16:5128018-5128023 GRCh38: Chr16:5078017-5078022	ALG1		ALG1-congenital disorder of glycosylation	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 218341818.	NM_019109.5(ALG1):c.740G>T (p.Arg247Leu) GRCh37: Chr16:5128018 GRCh38: Chr16:5078017	ALG1	R247L, R136L	ALG1-congenital disorder of glycosylation	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 218182619.	NM_019109.5(ALG1):c.1210GAA[1] (p.Glu405del) GRCh37: Chr16:5133705-5133707 GRCh38: Chr16:5083704-5083706	ALG1	E294del, E405del	ALG1-congenital disorder of glycosylation	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 217549520.	NM_019109.5(ALG1):c.494G>C (p.Gly165Ala) GRCh37: Chr16:5125492 GRCh38: Chr16:5075491	ALG1	G165A, G54A	ALG1-congenital disorder of glycosylation	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 217372721.	NM_019109.5(ALG1):c.28_45dup (p.Leu15_Pro16insAlaLeuCysLeuLeuLeu) GRCh37: Chr16:5121871-5121872 GRCh38: Chr16:5071870-5071871	ALG1		ALG1-congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 217197822.	NM_019109.5(ALG1):c.1034C>T (p.Thr345Ile) GRCh37: Chr16:5131019 GRCh38: Chr16:5081018	ALG1	T234I, T345I	ALG1-congenital disorder of glycosylation	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 217111223.	NM_019109.5(ALG1):c.559C>T (p.Arg187Cys) GRCh37: Chr16:5127465 GRCh38: Chr16:5077464	ALG1	R187C, R76C	ALG1-congenital disorder of glycosylation	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 216629924.	NM_019109.5(ALG1):c.981G>A (p.Glu327=) GRCh37: Chr16:5130966 GRCh38: Chr16:5080965	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 216508825.	NM_019109.5(ALG1):c.312A>C (p.Gly104=) GRCh37: Chr16:5123179 GRCh38: Chr16:5073178	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 216440726.	NM_019109.5(ALG1):c.629+7T>C GRCh37: Chr16:5127542 GRCh38: Chr16:5077541	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 216398027.	NM_019109.5(ALG1):c.817C>G (p.Leu273Val) GRCh37: Chr16:5128834 GRCh38: Chr16:5078833	ALG1	L162V, L273V	ALG1-congenital disorder of glycosylation	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 216324628.	NM_019109.5(ALG1):c.97C>T (p.Arg33Trp) GRCh37: Chr16:5121947 GRCh38: Chr16:5071946	ALG1	R33W	Inborn genetic diseases, ALG1-congenital disorder of glycosylation	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215307029.	NM_019109.5(ALG1):c.228G>A (p.Glu76=) GRCh37: Chr16:5122971 GRCh38: Chr16:5072970	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 215276330.	NM_019109.5(ALG1):c.514C>A (p.His172Asn) GRCh37: Chr16:5125512 GRCh38: Chr16:5075511	ALG1	H172N, H61N	ALG1-congenital disorder of glycosylation	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 214933831.	NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu) GRCh37: Chr16:5134845 GRCh38: Chr16:5084844	EEF2KMT, ALG1	W453L, W342L	ALG1-congenital disorder of glycosylation	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 214922332.	NM_019109.5(ALG1):c.13T>G (p.Cys5Gly) GRCh37: Chr16:5121863 GRCh38: Chr16:5071862	ALG1	C5G	ALG1-congenital disorder of glycosylation	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 214886133.	NM_019109.5(ALG1):c.1072+20C>T GRCh37: Chr16:5131077 GRCh38: Chr16:5081076	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 214398634.	NM_019109.5(ALG1):c.852G>A (p.Thr284=) GRCh37: Chr16:5128869 GRCh38: Chr16:5078868	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 214111535.	NM_019109.5(ALG1):c.577C>T (p.Leu193=) GRCh37: Chr16:5127483 GRCh38: Chr16:5077482	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 213540136.	NM_019109.5(ALG1):c.391-2A>G GRCh37: Chr16:5125387 GRCh38: Chr16:5075386	ALG1		ALG1-congenital disorder of glycosylation	Likely pathogenic (May 8, 2022)	criteria provided, single submitter
Select item 213517737.	NM_019109.5(ALG1):c.562C>A (p.Leu188Met) GRCh37: Chr16:5127468 GRCh38: Chr16:5077467	ALG1	L188M, L77M	ALG1-congenital disorder of glycosylation	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 213313538.	NM_019109.5(ALG1):c.962-18C>T GRCh37: Chr16:5130929 GRCh38: Chr16:5080928	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 213261039.	NM_019109.5(ALG1):c.946G>C (p.Val316Leu) GRCh37: Chr16:5129793 GRCh38: Chr16:5079792	ALG1	V205L, V316L	ALG1-congenital disorder of glycosylation	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213082940.	NM_019109.5(ALG1):c.702C>T (p.Phe234=) GRCh37: Chr16:5127980 GRCh38: Chr16:5077979	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 212932941.	NM_019109.5(ALG1):c.580T>C (p.Cys194Arg) GRCh37: Chr16:5127486 GRCh38: Chr16:5077485	ALG1	C194R, C83R	ALG1-congenital disorder of glycosylation	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 212928242.	NM_019109.5(ALG1):c.901+5G>T GRCh37: Chr16:5129108 GRCh38: Chr16:5079107	ALG1		ALG1-congenital disorder of glycosylation	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212896243.	NM_019109.5(ALG1):c.1065G>A (p.Leu355=) GRCh37: Chr16:5131050 GRCh38: Chr16:5081049	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 212885944.	NM_019109.5(ALG1):c.287-7C>G GRCh37: Chr16:5123147 GRCh38: Chr16:5073146	ALG1		ALG1-congenital disorder of glycosylation	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212825745.	NM_019109.5(ALG1):c.564G>T (p.Leu188=) GRCh37: Chr16:5127470 GRCh38: Chr16:5077469	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 212770246.	NM_019109.5(ALG1):c.590A>C (p.Asn197Thr) GRCh37: Chr16:5127496 GRCh38: Chr16:5077495	ALG1	N197T, N86T	ALG1-congenital disorder of glycosylation	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212276747.	NM_019109.5(ALG1):c.123C>G (p.Gly41=) GRCh37: Chr16:5121973 GRCh38: Chr16:5071972	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 211995248.	NM_019109.5(ALG1):c.931A>G (p.Asn311Asp) GRCh37: Chr16:5129778 GRCh38: Chr16:5079777	ALG1	N200D, N311D	ALG1-congenital disorder of glycosylation	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 211882449.	NM_019109.5(ALG1):c.1252G>T (p.Ala418Ser) GRCh37: Chr16:5133747 GRCh38: Chr16:5083746	ALG1	A307S, A418S	ALG1-congenital disorder of glycosylation	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 211734950.	NM_019109.5(ALG1):c.40_41insAGCTGC (p.Leu13_Leu14insGlnLeu) GRCh37: Chr16:5121886-5121887 GRCh38: Chr16:5071885-5071886	ALG1		ALG1-congenital disorder of glycosylation	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 211583751.	NM_019109.5(ALG1):c.486dup (p.Ile163fs) GRCh37: Chr16:5125482-5125483 GRCh38: Chr16:5075481-5075482	ALG1	I163fs, I52fs	ALG1-congenital disorder of glycosylation	Pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 210822152.	NM_019109.5(ALG1):c.740+1G>A GRCh37: Chr16:5128019 GRCh38: Chr16:5078018	ALG1		ALG1-congenital disorder of glycosylation	Likely pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 210396353.	NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter) GRCh37: Chr16:5133750 GRCh38: Chr16:5083749	ALG1	Q308, Q419	ALG1-congenital disorder of glycosylation	Pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 210082954.	NM_019109.5(ALG1):c.540-20C>G GRCh37: Chr16:5127426 GRCh38: Chr16:5077425	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 209987255.	NM_019109.5(ALG1):c.208+18_208+19insTTCT GRCh37: Chr16:5122073-5122074 GRCh38: Chr16:5072072-5072073	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 209957856.	NM_019109.5(ALG1):c.1056C>G (p.Asp352Glu) GRCh37: Chr16:5131041 GRCh38: Chr16:5081040	ALG1	D241E, D352E	ALG1-congenital disorder of glycosylation	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209549957.	NM_019109.5(ALG1):c.710del (p.Leu237fs) GRCh37: Chr16:5127988 GRCh38: Chr16:5077987	ALG1	L126fs, L237fs	ALG1-congenital disorder of glycosylation	Pathogenic (Feb 9, 2022)	criteria provided, single submitter
Select item 209298458.	NM_019109.5(ALG1):c.390+3G>T GRCh37: Chr16:5123260 GRCh38: Chr16:5073259	ALG1		ALG1-congenital disorder of glycosylation	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 209217659.	NM_019109.5(ALG1):c.970C>G (p.Pro324Ala) GRCh37: Chr16:5130955 GRCh38: Chr16:5080954	ALG1	P213A, P324A	ALG1-congenital disorder of glycosylation	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 209217560.	NM_019109.5(ALG1):c.964A>C (p.Lys322Gln) GRCh37: Chr16:5130949 GRCh38: Chr16:5080948	ALG1	K211Q, K322Q	ALG1-congenital disorder of glycosylation	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 208548861.	NM_019109.5(ALG1):c.531G>T (p.Leu177=) GRCh37: Chr16:5125529 GRCh38: Chr16:5075528	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 207394662.	NM_019109.5(ALG1):c.802G>T (p.Gly268Trp) GRCh37: Chr16:5128819 GRCh38: Chr16:5078818	ALG1	G157W, G268W	ALG1-congenital disorder of glycosylation	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 207270163.	NM_019109.5(ALG1):c.31C>T (p.Leu11=) GRCh37: Chr16:5121881 GRCh38: Chr16:5071880	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 207170264.	NM_019109.5(ALG1):c.1392A>G (p.Thr464=) GRCh37: Chr16:5134879 GRCh38: Chr16:5084878	ALG1, EEF2KMT		ALG1-congenital disorder of glycosylation	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 206995265.	NM_019109.5(ALG1):c.756C>G (p.Asp252Glu) GRCh37: Chr16:5128773 GRCh38: Chr16:5078772	ALG1	D141E, D252E	Inborn genetic diseases, ALG1-congenital disorder of glycosylation	Uncertain significance (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206860166.	NM_019109.5(ALG1):c.369A>G (p.Pro123=) GRCh37: Chr16:5123236 GRCh38: Chr16:5073235	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 206430667.	NM_019109.5(ALG1):c.132C>T (p.Gly44=) GRCh37: Chr16:5121982 GRCh38: Chr16:5071981	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 206056768.	NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly) GRCh37: Chr16:5134836 GRCh38: Chr16:5084835	EEF2KMT, ALG1	D339G, D450G	ALG1-congenital disorder of glycosylation	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 206049069.	NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln) GRCh37: Chr16:5134830 GRCh38: Chr16:5084829	EEF2KMT, ALG1	R337Q, R448Q	ALG1-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205547270.	NM_019109.5(ALG1):c.741-12C>G GRCh37: Chr16:5128746 GRCh38: Chr16:5078745	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205503171.	NM_019109.5(ALG1):c.390+15C>T GRCh37: Chr16:5123272 GRCh38: Chr16:5073271	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 205256972.	NM_019109.5(ALG1):c.415G>T (p.Ala139Ser) GRCh37: Chr16:5125413 GRCh38: Chr16:5075412	ALG1	A28S, A139S	ALG1-congenital disorder of glycosylation	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 204538873.	NM_019109.5(ALG1):c.1365G>C (p.Gln455His) GRCh37: Chr16:5134852 GRCh38: Chr16:5084851	ALG1, EEF2KMT	Q455H, Q344H	ALG1-congenital disorder of glycosylation	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 204452374.	NM_019109.5(ALG1):c.602A>C (p.Glu201Ala) GRCh37: Chr16:5127508 GRCh38: Chr16:5077507	ALG1	E90A, E201A	ALG1-congenital disorder of glycosylation	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 204205975.	NM_019109.5(ALG1):c.961+9T>C GRCh37: Chr16:5129817 GRCh38: Chr16:5079816	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 204079376.	NM_019109.5(ALG1):c.1199T>G (p.Leu400Arg) GRCh37: Chr16:5133694 GRCh38: Chr16:5083693	ALG1	L400R, L289R	ALG1-congenital disorder of glycosylation	Uncertain significance (Dec 12, 2021)	criteria provided, single submitter
Select item 203577377.	NM_019109.5(ALG1):c.209-16C>T GRCh37: Chr16:5122936 GRCh38: Chr16:5072935	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 203238478.	NM_019109.5(ALG1):c.901+20G>T GRCh37: Chr16:5129123 GRCh38: Chr16:5079122	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203031279.	NM_019109.5(ALG1):c.209-20G>A GRCh37: Chr16:5122932 GRCh38: Chr16:5072931	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 202668380.	NM_019109.5(ALG1):c.588C>G (p.Thr196=) GRCh37: Chr16:5127494 GRCh38: Chr16:5077493	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 202201281.	NM_019109.5(ALG1):c.1128C>A (p.Pro376=) GRCh37: Chr16:5132615 GRCh38: Chr16:5082614	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 201837882.	NM_019109.5(ALG1):c.1227C>G (p.Val409=) GRCh37: Chr16:5133722 GRCh38: Chr16:5083721	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 201764583.	NM_019109.5(ALG1):c.208+19_208+20insTTTG GRCh37: Chr16:5122075-5122076 GRCh38: Chr16:5072074-5072075	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 201486584.	NM_019109.5(ALG1):c.390+11G>A GRCh37: Chr16:5123268 GRCh38: Chr16:5073267	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 201459985.	NM_019109.5(ALG1):c.169G>T (p.Ala57Ser) GRCh37: Chr16:5122019 GRCh38: Chr16:5072018	ALG1	A57S	ALG1-congenital disorder of glycosylation	Uncertain significance (Nov 28, 2021)	criteria provided, single submitter
Select item 201272486.	NM_019109.5(ALG1):c.654C>A (p.Pro218=) GRCh37: Chr16:5127932 GRCh38: Chr16:5077931	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 201196587.	NM_019109.5(ALG1):c.1208A>C (p.His403Pro) GRCh37: Chr16:5133703 GRCh38: Chr16:5083702	ALG1	H292P, H403P	ALG1-congenital disorder of glycosylation	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 200737988.	NM_019109.5(ALG1):c.287-10T>C GRCh37: Chr16:5123144 GRCh38: Chr16:5073143	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 200665989.	NM_019109.5(ALG1):c.240C>G (p.Asn80Lys) GRCh37: Chr16:5122983 GRCh38: Chr16:5072982	ALG1	N80K	ALG1-congenital disorder of glycosylation	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 200656290.	NM_019109.5(ALG1):c.193C>T (p.Leu65Phe) GRCh37: Chr16:5122043 GRCh38: Chr16:5072042	ALG1	L65F	ALG1-congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 200582891.	NM_019109.5(ALG1):c.740+6C>T GRCh37: Chr16:5128024 GRCh38: Chr16:5078023	ALG1		ALG1-congenital disorder of glycosylation	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200513192.	NM_019109.5(ALG1):c.823G>C (p.Glu275Gln) GRCh37: Chr16:5128840 GRCh38: Chr16:5078839	ALG1	E275Q, E164Q	ALG1-congenital disorder of glycosylation	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 200479193.	NM_019109.5(ALG1):c.287-12T>C GRCh37: Chr16:5123142 GRCh38: Chr16:5073141	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 200282394.	NM_019109.5(ALG1):c.1250C>G (p.Ala417Gly) GRCh37: Chr16:5133745 GRCh38: Chr16:5083744	ALG1	A417G, A306G	ALG1-congenital disorder of glycosylation	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 200195595.	NM_019109.5(ALG1):c.539+9C>G GRCh37: Chr16:5125546 GRCh38: Chr16:5075545	ALG1		ALG1-congenital disorder of glycosylation	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 200056896.	NM_019109.5(ALG1):c.629+9G>T GRCh37: Chr16:5127544 GRCh38: Chr16:5077543	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 199949897.	NM_019109.5(ALG1):c.440T>A (p.Leu147His) GRCh37: Chr16:5125438 GRCh38: Chr16:5075437	ALG1	L147H, L36H	ALG1-congenital disorder of glycosylation	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 199584898.	NM_019109.5(ALG1):c.391-12T>C GRCh37: Chr16:5125377 GRCh38: Chr16:5075376	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 199529099.	NM_019109.5(ALG1):c.208+18_208+19insATCT GRCh37: Chr16:5122073-5122074 GRCh38: Chr16:5072072-5072073	ALG1		ALG1-congenital disorder of glycosylation	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 1994449100.	NM_019109.5(ALG1):c.235C>T (p.Gln79Ter) GRCh37: Chr16:5122978 GRCh38: Chr16:5072977	ALG1	Q79*	ALG1-congenital disorder of glycosylation	Pathogenic (Oct 17, 2022)	criteria provided, single submitter

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