ClinVar for MedGen (Select 443955) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24416421.	NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys) GRCh37: Chr11:111715425 GRCh38: Chr11:111844702	ALG9	Y110C, Y135C, Y306C	Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 24268782.	NC_000011.9:g.(?_111657121)_(111922093_?)del GRCh37: Chr11:111657121-111922093	C11orf52, ALG9, DIXDC1, HSPB2, CFAP68, CRYAB, DLAT, FDXACB1		ALG9 congenital disorder of glycosylation	Pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 24219363.	NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=) GRCh37: Chr12:124235674 GRCh38: Chr12:123751127	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 24211474.	NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His) GRCh37: Chr12:124209288 GRCh38: Chr12:123724741	ATP6V0A2	Y128H	ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 24180725.	NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=) GRCh37: Chr12:124236925 GRCh38: Chr12:123752378	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 24159646.	NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=) GRCh37: Chr12:124209239 GRCh38: Chr12:123724692	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 24134677.	NM_012463.4(ATP6V0A2):c.2466-10T>G GRCh37: Chr12:124242464 GRCh38: Chr12:123757917	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 24132628.	NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr) GRCh37: Chr11:111657225 GRCh38: Chr11:111786501	ALG9	A366T, A382T, A407T, A414T, A537T, A578T, A585T	ALG9 congenital disorder of glycosylation	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 22011119.	NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly) GRCh37: Chr12:124212365 GRCh38: Chr12:123727818	ATP6V0A2	E186G	ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 219941910.	NM_024740.2(ALG9):c.1174-5A>T GRCh37: Chr11:111709127 GRCh38: Chr11:111838404	ALG9		ALG9 congenital disorder of glycosylation	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 219914511.	NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met) GRCh37: Chr12:124241397 GRCh38: Chr12:123756850	ATP6V0A2	V777M	ALG9 congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 219625712.	NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=) GRCh37: Chr12:124239021 GRCh38: Chr12:123754474	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 219492513.	NM_012463.4(ATP6V0A2):c.1932G>A (p.Gly644=) GRCh37: Chr12:124233329 GRCh38: Chr12:123748782	ATP6V0A2, LOC126861666		ALG9 congenital disorder of glycosylation	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 219481514.	NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=) GRCh37: Chr12:124228421 GRCh38: Chr12:123743874	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 219399715.	NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu) GRCh37: Chr12:124218545 GRCh38: Chr12:123733998	ATP6V0A2	I241L	ALG9 congenital disorder of glycosylation	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 219305916.	NM_012463.4(ATP6V0A2):c.117+20_117+21insT GRCh37: Chr12:124197249-124197250 GRCh38: Chr12:123712702-123712703	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 219147617.	NM_012463.4(ATP6V0A2):c.63G>T (p.Thr21=) GRCh37: Chr12:124197175 GRCh38: Chr12:123712628	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 218967418.	NM_024740.2(ALG9):c.793C>T (p.Pro265Ser) GRCh37: Chr11:111724205 GRCh38: Chr11:111853482	ALG9	P69S, P94S, P265S	ALG9 congenital disorder of glycosylation	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 218857719.	NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys) GRCh37: Chr12:124220151 GRCh38: Chr12:123735604	ATP6V0A2	R269C	Inborn genetic diseases, ALG9 congenital disorder of glycosylation	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218689520.	NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=) GRCh37: Chr12:124235662 GRCh38: Chr12:123751115	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 218632021.	NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys) GRCh37: Chr12:124228450 GRCh38: Chr12:123743903	ATP6V0A2	Y386C	ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 218562522.	NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=) GRCh37: Chr12:124197190 GRCh38: Chr12:123712643	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 218457723.	NM_012463.4(ATP6V0A2):c.826-15G>A GRCh37: Chr12:124221591 GRCh38: Chr12:123737044	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 218288724.	NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly) GRCh37: Chr12:124197131 GRCh38: Chr12:123712584	ATP6V0A2	S7G	ALG9 congenital disorder of glycosylation	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 218237525.	NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=) GRCh37: Chr12:124229308 GRCh38: Chr12:123744761	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 218229026.	NM_024740.2(ALG9):c.1567A>G (p.Met523Val) GRCh37: Chr11:111706923 GRCh38: Chr11:111836200	ALG9	M304V, M516V, M523V, M345V, M352V, M475V, M320V	ALG9 congenital disorder of glycosylation	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 218056927.	NM_024740.2(ALG9):c.132-13_132-12insTTG GRCh37: Chr11:111741105-111741106 GRCh38: Chr11:111870382-111870383	ALG9		ALG9 congenital disorder of glycosylation	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 217722528.	NM_024740.2(ALG9):c.482T>C (p.Val161Ala) GRCh37: Chr11:111731353 GRCh38: Chr11:111860630	ALG9	V161A	ALG9 congenital disorder of glycosylation	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 217361229.	NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His) GRCh37: Chr12:124232176 GRCh38: Chr12:123747629	ATP6V0A2	R543H	ALG9 congenital disorder of glycosylation	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 217086130.	NM_024740.2(ALG9):c.888T>G (p.Asp296Glu) GRCh37: Chr11:111724110 GRCh38: Chr11:111853387	ALG9	D296E, D125E, D100E	ALG9 congenital disorder of glycosylation	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 216825331.	NM_024740.2(ALG9):c.132-13del GRCh37: Chr11:111741106 GRCh38: Chr11:111870383	ALG9		ALG9 congenital disorder of glycosylation	Benign (Oct 26, 2022)	criteria provided, single submitter
Select item 216681432.	NM_024740.2(ALG9):c.1431A>G (p.Lys477=) GRCh37: Chr11:111708232 GRCh38: Chr11:111837509	ALG9		ALG9 congenital disorder of glycosylation	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 216677733.	NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del) GRCh37: Chr12:124229312-124229314 GRCh38: Chr12:123744765-123744767	ATP6V0A2	K500del	ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 216561334.	NM_012463.4(ATP6V0A2):c.118-13A>G GRCh37: Chr12:124203157 GRCh38: Chr12:123718610	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 216508935.	NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln) GRCh37: Chr12:124203240 GRCh38: Chr12:123718693	ATP6V0A2	R63Q	ALG9 congenital disorder of glycosylation	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 216304136.	NM_024740.2(ALG9):c.1350T>C (p.Tyr450=) GRCh37: Chr11:111708313 GRCh38: Chr11:111837590	ALG9		ALG9 congenital disorder of glycosylation	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 216256337.	NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu) GRCh37: Chr12:124228789 GRCh38: Chr12:123744242	ATP6V0A2	M411L	ALG9 congenital disorder of glycosylation	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 216213838.	NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=) GRCh37: Chr12:124221779 GRCh38: Chr12:123737232	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 216181939.	NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser) GRCh37: Chr12:124228781 GRCh38: Chr12:123744234	ATP6V0A2	F408S	ALG9 congenital disorder of glycosylation	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 215809840.	NM_024740.2(ALG9):c.1734-15T>C GRCh37: Chr11:111657259 GRCh38: Chr11:111786535	ALG9		ALG9 congenital disorder of glycosylation	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 215779441.	NM_012463.4(ATP6V0A2):c.2294-12A>G GRCh37: Chr12:124241350 GRCh38: Chr12:123756803	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 215748242.	NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala) GRCh37: Chr12:124232215 GRCh38: Chr12:123747668	ATP6V0A2	V556A	ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 215501043.	NM_012463.4(ATP6V0A2):c.1190-7dup GRCh37: Chr12:124228735-124228736 GRCh38: Chr12:123744188-123744189	ATP6V0A2		ALG9 congenital disorder of glycosylation	Benign (Jun 28, 2022)	criteria provided, single submitter
Select item 215322144.	NM_012463.4(ATP6V0A2):c.1437C>T (p.Phe479=) GRCh37: Chr12:124229254 GRCh38: Chr12:123744707	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 215321445.	NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=) GRCh37: Chr12:124242498 GRCh38: Chr12:123757951	ATP6V0A2		ALG9 congenital disorder of glycosylation	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 215295546.	NM_012463.4(ATP6V0A2):c.826-20C>T GRCh37: Chr12:124221586 GRCh38: Chr12:123737039	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 214934447.	NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr) GRCh37: Chr12:124241451 GRCh38: Chr12:123756904	ATP6V0A2	A795T	ALG9 congenital disorder of glycosylation	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 214922148.	NM_024740.2(ALG9):c.1320C>T (p.Phe440=) GRCh37: Chr11:111708976 GRCh38: Chr11:111838253	ALG9		ALG9 congenital disorder of glycosylation	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 214922049.	NM_024740.2(ALG9):c.1500G>A (p.Glu500=) GRCh37: Chr11:111706990 GRCh38: Chr11:111836267	ALG9		ALG9 congenital disorder of glycosylation	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 214921650.	NM_024740.2(ALG9):c.966C>T (p.Leu322=) GRCh37: Chr11:111715376 GRCh38: Chr11:111844653	ALG9		ALG9 congenital disorder of glycosylation	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 214783951.	NM_024740.2(ALG9):c.1733+9C>T GRCh37: Chr11:111680358 GRCh38: Chr11:111809634	ALG9		ALG9 congenital disorder of glycosylation	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 214752852.	NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys) GRCh37: Chr11:111708257 GRCh38: Chr11:111837534	ALG9	R266K, R298K, R421K, R250K, R462K, R469K, R291K	ALG9 congenital disorder of glycosylation	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 214742953.	NM_024740.2(ALG9):c.596C>G (p.Thr199Ser) GRCh37: Chr11:111728430 GRCh38: Chr11:111857707	ALG9	T3S, T28S, T199S	ALG9 congenital disorder of glycosylation	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 214701054.	NM_024740.2(ALG9):c.1733+19A>G GRCh37: Chr11:111680348 GRCh38: Chr11:111809624	ALG9		ALG9 congenital disorder of glycosylation	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 214427555.	NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu) GRCh37: Chr12:124242517 GRCh38: Chr12:123757970	ATP6V0A2	F837L	ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 214397356.	NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile) GRCh37: Chr11:111708281 GRCh38: Chr11:111837558	ALG9	T283I, T454I, T242I, T258I, T413I, T461I, T290I	ALG9 congenital disorder of glycosylation	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 214377457.	NM_012463.4(ATP6V0A2):c.744C>T (p.His248=) GRCh37: Chr12:124220090 GRCh38: Chr12:123735543	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 214300958.	NM_024740.2(ALG9):c.1734-16dup GRCh37: Chr11:111657259-111657260 GRCh38: Chr11:111786535-111786536	ALG9		ALG9 congenital disorder of glycosylation	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 214299459.	NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr) GRCh37: Chr12:124241517 GRCh38: Chr12:123756970	ATP6V0A2	A817T	Inborn genetic diseases, ALG9 congenital disorder of glycosylation	Uncertain significance (May 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214070860.	NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln) GRCh37: Chr11:111657158 GRCh38: Chr11:111786434	ALG9	R388Q, R436Q, R429Q, R607Q, R404Q, R559Q, R600Q	Inborn genetic diseases, ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213998461.	NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln) GRCh37: Chr12:124209312 GRCh38: Chr12:123724765	ATP6V0A2	K136Q	ALG9 congenital disorder of glycosylation	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 213882662.	NM_024740.2(ALG9):c.1212G>T (p.Val404=) GRCh37: Chr11:111709084 GRCh38: Chr11:111838361	ALG9		ALG9 congenital disorder of glycosylation	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 213754663.	NM_012463.4(ATP6V0A2):c.197-16A>G GRCh37: Chr12:124206882 GRCh38: Chr12:123722335	ATP6V0A2		ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 213744964.	NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter) GRCh37: Chr12:124235736 GRCh38: Chr12:123751189	ATP6V0A2	L672*	ALG9 congenital disorder of glycosylation	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 213744865.	NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer) GRCh37: Chr12:124209294-124209295 GRCh38: Chr12:123724747-123724748	ATP6V0A2		ALG9 congenital disorder of glycosylation	Pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 213525566.	NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg) GRCh37: Chr12:124221787 GRCh38: Chr12:123737240	ATP6V0A2	Q336R	ALG9 congenital disorder of glycosylation	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213323667.	NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs) GRCh37: Chr12:124235666-124235667 GRCh38: Chr12:123751119-123751120	ATP6V0A2	Q649fs	ALG9 congenital disorder of glycosylation	Pathogenic (May 17, 2022)	criteria provided, single submitter
Select item 213216268.	NM_012463.4(ATP6V0A2):c.2466-16C>T GRCh37: Chr12:124242458 GRCh38: Chr12:123757911	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 213216169.	NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA GRCh37: Chr12:124242457-124242458 GRCh38: Chr12:123757910-123757911	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 213205870.	NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val) GRCh37: Chr12:124218503 GRCh38: Chr12:123733956	ATP6V0A2	I227V	ALG9 congenital disorder of glycosylation	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 212245071.	NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu) GRCh37: Chr12:124235720 GRCh38: Chr12:123751173	ATP6V0A2	K667E	ALG9 congenital disorder of glycosylation	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 212153372.	NM_024740.2(ALG9):c.114C>G (p.Gly38=) GRCh37: Chr11:111742092 GRCh38: Chr11:111871369	ALG9		ALG9 congenital disorder of glycosylation	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212019573.	NM_024740.2(ALG9):c.131+1G>C GRCh37: Chr11:111742074 GRCh38: Chr11:111871351	ALG9		ALG9 congenital disorder of glycosylation	Likely pathogenic (May 17, 2022)	criteria provided, single submitter
Select item 211099574.	NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr) GRCh37: Chr12:124228374 GRCh38: Chr12:123743827	ATP6V0A2	P361T	ALG9 congenital disorder of glycosylation	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 211065475.	NM_024740.2(ALG9):c.222C>T (p.Leu74=) GRCh37: Chr11:111741003 GRCh38: Chr11:111870280	ALG9		ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211057676.	NM_024740.2(ALG9):c.739A>G (p.Arg247Gly) GRCh37: Chr11:111724422 GRCh38: Chr11:111853699	ALG9	R247G, R76G, R51G	ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 211027577.	NM_024740.2(ALG9):c.1060A>T (p.Met354Leu) GRCh37: Chr11:111711491 GRCh38: Chr11:111840768	ALG9	M354L, M158L, M183L, M142L, M313L	ALG9 congenital disorder of glycosylation	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 211022978.	NM_024740.2(ALG9):c.1077A>G (p.Ile359Met) GRCh37: Chr11:111711474 GRCh38: Chr11:111840751	ALG9	I147M, I318M, I359M, I163M, I188M	ALG9 congenital disorder of glycosylation	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210660479.	NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala) GRCh37: Chr11:111657213 GRCh38: Chr11:111786489	ALG9	P418A, P541A, P386A, P370A, P411A, P582A, P589A	ALG9 congenital disorder of glycosylation	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 210600780.	NM_024740.2(ALG9):c.141G>A (p.Gly47=) GRCh37: Chr11:111741084 GRCh38: Chr11:111870361	ALG9		ALG9 congenital disorder of glycosylation	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 209414881.	NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=) GRCh37: Chr12:124228869 GRCh38: Chr12:123744322	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 209412882.	NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=) GRCh37: Chr12:124221719 GRCh38: Chr12:123737172	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 209408683.	NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys) GRCh37: Chr12:124209276 GRCh38: Chr12:123724729	ATP6V0A2	E124K	ALG9 congenital disorder of glycosylation	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209283984.	NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser) GRCh37: Chr12:124221742 GRCh38: Chr12:123737195	ATP6V0A2	N321S	ALG9 congenital disorder of glycosylation	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 209148485.	NM_024740.2(ALG9):c.11G>A (p.Arg4Gln) GRCh37: Chr11:111742196 GRCh38: Chr11:111871472	ALG9	R4Q	ALG9 congenital disorder of glycosylation	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 209030786.	NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu) GRCh37: Chr11:111708299 GRCh38: Chr11:111837576	ALG9	R252L, R277L, R236L, R284L, R448L, R407L, R455L	ALG9 congenital disorder of glycosylation	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 208691487.	NM_024740.2(ALG9):c.744G>A (p.Trp248Ter) GRCh37: Chr11:111724417 GRCh38: Chr11:111853694	ALG9	W248, W77, W52*	ALG9 congenital disorder of glycosylation	Pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 208306588.	NM_024740.2(ALG9):c.1469A>T (p.Asp490Val) GRCh37: Chr11:111708194 GRCh38: Chr11:111837471	ALG9	D271V, D312V, D442V, D483V, D287V, D319V, D490V	ALG9 congenital disorder of glycosylation	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 207986089.	NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met) GRCh37: Chr12:124238984 GRCh38: Chr12:123754437	ATP6V0A2	I731M	ALG9 congenital disorder of glycosylation	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 207954690.	NM_024740.2(ALG9):c.27C>T (p.Arg9=) GRCh37: Chr11:111742180 GRCh38: Chr11:111871456	ALG9		ALG9 congenital disorder of glycosylation	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 207637791.	NM_024740.2(ALG9):c.1644C>G (p.Thr548=) GRCh37: Chr11:111680456 GRCh38: Chr11:111809732	ALG9		ALG9 congenital disorder of glycosylation	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 207579692.	NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=) GRCh37: Chr12:124221644 GRCh38: Chr12:123737097	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 207294793.	NM_024740.2(ALG9):c.546C>A (p.Gly182=) GRCh37: Chr11:111731289 GRCh38: Chr11:111860566	ALG9		ALG9 congenital disorder of glycosylation	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 207206294.	NM_024740.2(ALG9):c.1325-17A>G GRCh37: Chr11:111708355 GRCh38: Chr11:111837632	ALG9		ALG9 congenital disorder of glycosylation	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 207085195.	NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=) GRCh37: Chr12:124229293 GRCh38: Chr12:123744746	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 206927096.	NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser) GRCh37: Chr12:124221756 GRCh38: Chr12:123737209	ATP6V0A2	A326S	Inborn genetic diseases, ALG9 congenital disorder of glycosylation	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206868997.	NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=) GRCh37: Chr12:124242549 GRCh38: Chr12:123758002	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 206583398.	NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly) GRCh37: Chr12:124235669 GRCh38: Chr12:123751122	ATP6V0A2	R650G	ALG9 congenital disorder of glycosylation	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 206426099.	NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr) GRCh37: Chr11:111680496 GRCh38: Chr11:111809772	ALG9	I332T, I316T, I357T, I364T, I487T, I528T, I535T	ALG9 congenital disorder of glycosylation	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 2058071100.	NM_012463.4(ATP6V0A2):c.649-20T>C GRCh37: Chr12:124218453 GRCh38: Chr12:123733906	ATP6V0A2		ALG9 congenital disorder of glycosylation	Likely benign (Mar 14, 2022)	criteria provided, single submitter

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