ClinVar for MedGen (Select 1382656) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 638

<< First< Prev

Page of 7

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25732021.	NM_001099922.3(ALG13):c.314T>C (p.Met105Thr) GRCh37: ChrX:110928262 GRCh38: ChrX:111685034	ALG13	M105T, M107T, M1T, M27T	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jul 20, 2023)	criteria provided, single submitter
Select item 24416302.	NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu) GRCh37: ChrX:110970238 GRCh38: ChrX:111727010	ALG13	P482L, P540L, P566L, P644L	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 24389943.	NM_001099922.3(ALG13):c.527C>T (p.Thr176Ile) GRCh37: ChrX:110951398 GRCh38: ChrX:111708170	ALG13	T176I, T72I, T98I	Developmental and epileptic encephalopathy, 36	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 24389934.	NM_001099922.3(ALG13):c.286C>T (p.Leu96Phe) GRCh37: ChrX:110928234 GRCh38: ChrX:111685006	ALG13	L18F, L96F, L98F, T76I	Developmental and epileptic encephalopathy, 36	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 24389925.	NM_001099922.3(ALG13):c.770A>G (p.His257Arg) GRCh37: ChrX:110952212 GRCh38: ChrX:111708984	ALG13	H153R, H179R, H257R	Developmental and epileptic encephalopathy, 36	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 24389916.	NM_001099922.3(ALG13):c.1655C>G (p.Pro552Arg) GRCh37: ChrX:110968215 GRCh38: ChrX:111724987	ALG13	P390R, P448R, P474R, P552R	Developmental and epileptic encephalopathy, 36	Uncertain significance (Sep 9, 2021)	criteria provided, single submitter
Select item 24389887.	NM_001099922.3(ALG13):c.1671G>T (p.Met557Ile) GRCh37: ChrX:110968231 GRCh38: ChrX:111725003	ALG13	M395I, M453I, M479I, M557I	Developmental and epileptic encephalopathy, 36	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 24389878.	NM_001099922.3(ALG13):c.1685G>C (p.Gly562Ala) GRCh37: ChrX:110968245 GRCh38: ChrX:111725017	ALG13	G400A, G458A, G484A, G562A	Developmental and epileptic encephalopathy, 36	Uncertain significance (Mar 2, 2021)	criteria provided, single submitter
Select item 24317509.	NM_001099922.3(ALG13):c.1780C>G (p.Arg594Gly) GRCh37: ChrX:110970087 GRCh38: ChrX:111726859	ALG13	R432G, R490G, R516G, R594G	Developmental and epileptic encephalopathy, 36	Uncertain significance (Feb 3, 2023)	criteria provided, single submitter
Select item 242403010.	NC_000023.10:g.(?_110924427)_(111003247_?)dup GRCh37: ChrX:110924427-111003247	ALG13		Developmental and epileptic encephalopathy, 36	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 242402911.	NC_000023.10:g.(?_110544895)_(111003247_?)del GRCh37: ChrX:110544895-111003247	ALG13, DCX		Developmental and epileptic encephalopathy, 36	Uncertain significance (Apr 18, 2018)	criteria provided, single submitter
Select item 242370012.	NC_000023.10:g.(?_110973603)_(110973828_?)del GRCh37: ChrX:110973603-110973828	ALG13		Developmental and epileptic encephalopathy, 36	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 242369913.	NC_000023.10:g.(?_109919459)_(111003227_?)del GRCh37: ChrX:109919459-111003227	ALG13, CAPN6, CHRDL1, DCX, PAK3		Developmental and epileptic encephalopathy, 36	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 242210714.	NM_001099922.3(ALG13):c.837T>C (p.Tyr279=) GRCh37: ChrX:110954905 GRCh38: ChrX:111711677	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 242048715.	NM_001099922.3(ALG13):c.1879A>G (p.Met627Val) GRCh37: ChrX:110970186 GRCh38: ChrX:111726958	ALG13	M465V, M523V, M549V, M627V	Developmental and epileptic encephalopathy, 36	Likely benign (Nov 13, 2020)	criteria provided, single submitter
Select item 241830216.	NM_001099922.3(ALG13):c.3324T>G (p.Ser1108=) GRCh37: ChrX:111003137 GRCh38: ChrX:111759909	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 241811417.	NM_001099922.3(ALG13):c.984A>G (p.Thr328=) GRCh37: ChrX:110956504 GRCh38: ChrX:111713276	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 241404618.	NM_001099922.3(ALG13):c.2932+19T>G GRCh37: ChrX:110988151 GRCh38: ChrX:111744923	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 220291219.	NM_001099922.3(ALG13):c.1818G>A (p.Lys606=) GRCh37: ChrX:110970125 GRCh38: ChrX:111726897	ALG13		Developmental and epileptic encephalopathy, 36	Benign (Sep 5, 2022)	criteria provided, single submitter
Select item 220019920.	NM_001099922.3(ALG13):c.834+20del GRCh37: ChrX:110952296 GRCh38: ChrX:111709068	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 219937221.	NM_001099922.3(ALG13):c.2760A>C (p.Pro920=) GRCh37: ChrX:110987960 GRCh38: ChrX:111744732	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 219572422.	NM_001099922.3(ALG13):c.1028G>A (p.Ser343Asn) GRCh37: ChrX:110961096 GRCh38: ChrX:111717868	ALG13	S239N, S343N, S265N	Developmental and epileptic encephalopathy, 36	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 219515923.	NM_001099922.3(ALG13):c.1186A>C (p.Arg396=) GRCh37: ChrX:110961438 GRCh38: ChrX:111718210	ALG13		Developmental and epileptic encephalopathy, 36	Benign (Aug 5, 2022)	criteria provided, single submitter
Select item 219512024.	NM_001099922.3(ALG13):c.2239A>G (p.Thr747Ala) GRCh37: ChrX:110970990 GRCh38: ChrX:111727762	ALG13	T585A, T643A, T669A, T747A	Developmental and epileptic encephalopathy, 36	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 219504725.	NM_001099922.3(ALG13):c.2860A>G (p.Asn954Asp) GRCh37: ChrX:110988060 GRCh38: ChrX:111744832	ALG13	N876D, N954D	Developmental and epileptic encephalopathy, 36	Benign (Apr 8, 2022)	criteria provided, single submitter
Select item 219475626.	NM_001099922.3(ALG13):c.81+13G>A GRCh37: ChrX:110924540 GRCh38: ChrX:111681312	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 219326127.	NM_001099922.3(ALG13):c.598A>G (p.Thr200Ala) GRCh37: ChrX:110951469 GRCh38: ChrX:111708241	ALG13	T200A, T96A, T122A	Developmental and epileptic encephalopathy, 36	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 218946628.	NM_001099922.3(ALG13):c.89A>C (p.Glu30Ala) GRCh37: ChrX:110925367 GRCh38: ChrX:111682139	ALG13	E30A	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 218915529.	NM_001099922.3(ALG13):c.2797CCT[5] (p.Pro938_Pro945del) GRCh37: ChrX:110987997-110988020 GRCh38: ChrX:111744769-111744792	ALG13		Developmental and epileptic encephalopathy, 36	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 218821730.	NM_001099922.3(ALG13):c.1435+19G>C GRCh37: ChrX:110964958 GRCh38: ChrX:111721730	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 218786331.	NM_001099922.3(ALG13):c.2457+17A>C GRCh37: ChrX:110973825 GRCh38: ChrX:111730597	ALG13		Developmental and epileptic encephalopathy, 36	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 218473432.	NM_001099922.3(ALG13):c.942C>G (p.Phe314Leu) GRCh37: ChrX:110956462 GRCh38: ChrX:111713234	ALG13	F210L, F314L, F236L	Developmental and epileptic encephalopathy, 36	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 218297433.	NM_001099922.3(ALG13):c.1930C>G (p.Pro644Ala) GRCh37: ChrX:110970237 GRCh38: ChrX:111727009	ALG13	P540A, P566A, P644A, P482A	Developmental and epileptic encephalopathy, 36	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 217579034.	NM_001099922.3(ALG13):c.69C>G (p.Pro23=) GRCh37: ChrX:110924515 GRCh38: ChrX:111681287	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 217369135.	NM_001099922.3(ALG13):c.2731A>G (p.Ile911Val) GRCh37: ChrX:110987931 GRCh38: ChrX:111744703	ALG13	I911V, I833V	Developmental and epileptic encephalopathy, 36	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 216938836.	NM_001099922.3(ALG13):c.886-6G>A GRCh37: ChrX:110955706 GRCh38: ChrX:111712478	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 216912337.	NM_001099922.3(ALG13):c.932+14T>C GRCh37: ChrX:110955772 GRCh38: ChrX:111712544	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 216621438.	NM_001099922.3(ALG13):c.2766A>G (p.Pro922=) GRCh37: ChrX:110987966 GRCh38: ChrX:111744738	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 216148239.	NM_001099922.3(ALG13):c.82-10C>T GRCh37: ChrX:110925350 GRCh38: ChrX:111682122	ALG13		Developmental and epileptic encephalopathy, 36	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 215886340.	NM_001099922.3(ALG13):c.1027A>T (p.Ser343Cys) GRCh37: ChrX:110961095 GRCh38: ChrX:111717867	ALG13	S239C, S343C, S265C	Developmental and epileptic encephalopathy, 36	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 215746241.	NM_001099922.3(ALG13):c.2247+13A>G GRCh37: ChrX:110971011 GRCh38: ChrX:111727783	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 215542542.	NM_001099922.3(ALG13):c.84A>G (p.Lys28=) GRCh37: ChrX:110925362 GRCh38: ChrX:111682134	ALG13		Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 215436643.	NM_001099922.3(ALG13):c.1003A>C (p.Lys335Gln) GRCh37: ChrX:110956523 GRCh38: ChrX:111713295	ALG13	K257Q, K231Q, K335Q	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 215321344.	NM_001099922.3(ALG13):c.1706C>T (p.Pro569Leu) GRCh37: ChrX:110968266 GRCh38: ChrX:111725038	ALG13	P407L, P465L, P491L, P569L	Developmental and epileptic encephalopathy, 36	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 215145345.	NM_001099922.3(ALG13):c.1326+12T>C GRCh37: ChrX:110963410 GRCh38: ChrX:111720182	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 214697646.	NM_001099922.3(ALG13):c.2793_2801dup (p.Pro945_Ala946insProProPro) GRCh37: ChrX:110987990-110987991 GRCh38: ChrX:111744762-111744763	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 214619147.	NM_001099922.3(ALG13):c.1976+16A>G GRCh37: ChrX:110970299 GRCh38: ChrX:111727071	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 214176348.	NM_001099922.3(ALG13):c.3105G>T (p.Glu1035Asp) GRCh37: ChrX:111000947 GRCh38: ChrX:111757719	ALG13	E852D, E1035D, E957D, E794D, E956D	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 213762849.	NM_001099922.3(ALG13):c.27G>A (p.Gly9=) GRCh37: ChrX:110924473 GRCh38: ChrX:111681245	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 213458050.	NM_001099922.3(ALG13):c.950A>T (p.Tyr317Phe) GRCh37: ChrX:110956470 GRCh38: ChrX:111713242	ALG13	Y213F, Y239F, Y317F	Developmental and epileptic encephalopathy, 36	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 212706651.	NM_001099922.3(ALG13):c.3398T>A (p.Val1133Glu) GRCh37: ChrX:111003211 GRCh38: ChrX:111759983	ALG13	V1055E, V1133E, V1054E, V892E, V950E	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 212643752.	NM_001099922.3(ALG13):c.3281G>A (p.Cys1094Tyr) GRCh37: ChrX:111003094 GRCh38: ChrX:111759866	ALG13	C1015Y, C853Y, C1016Y, C1094Y, C911Y	Developmental and epileptic encephalopathy, 36	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 212516453.	NM_001099922.3(ALG13):c.3149-19T>C GRCh37: ChrX:111002943 GRCh38: ChrX:111759715	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 212422454.	NM_001099922.3(ALG13):c.2753T>C (p.Leu918Pro) GRCh37: ChrX:110987953 GRCh38: ChrX:111744725	ALG13	L840P, L918P	Developmental and epileptic encephalopathy, 36	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 212389955.	NM_001099922.3(ALG13):c.3400C>T (p.Pro1134Ser) GRCh37: ChrX:111003213 GRCh38: ChrX:111759985	ALG13	P1134S, P1056S, P951S, P1055S, P893S	Developmental and epileptic encephalopathy, 36	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 211952656.	NM_001099922.3(ALG13):c.1435+15A>G GRCh37: ChrX:110964954 GRCh38: ChrX:111721726	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 211728557.	NM_001099922.3(ALG13):c.1317A>C (p.Glu439Asp) GRCh37: ChrX:110963389 GRCh38: ChrX:111720161	ALG13	E335D, E439D, E361D	Developmental and epileptic encephalopathy, 36	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 211708658.	NM_001099922.3(ALG13):c.1909A>G (p.Met637Val) GRCh37: ChrX:110970216 GRCh38: ChrX:111726988	ALG13	M637V, M475V, M533V, M559V	Developmental and epileptic encephalopathy, 36	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 211520159.	NM_001099922.3(ALG13):c.2874A>G (p.Pro958=) GRCh37: ChrX:110988074 GRCh38: ChrX:111744846	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 211482460.	NM_001099922.3(ALG13):c.1945C>G (p.Pro649Ala) GRCh37: ChrX:110970252 GRCh38: ChrX:111727024	ALG13	P649A, P487A, P571A, P545A	Developmental and epileptic encephalopathy, 36	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 210887161.	NM_001099922.3(ALG13):c.1474C>G (p.Gln492Glu) GRCh37: ChrX:110966059 GRCh38: ChrX:111722831	ALG13	Q388E, Q414E, Q492E	Developmental and epileptic encephalopathy, 36	Uncertain significance (Oct 15, 2022)	criteria provided, single submitter
Select item 210835362.	NM_001099922.3(ALG13):c.2768C>A (p.Pro923Gln) GRCh37: ChrX:110987968 GRCh38: ChrX:111744740	ALG13	P923Q, P845Q	Developmental and epileptic encephalopathy, 36	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 210801963.	NM_001099922.3(ALG13):c.871T>C (p.Leu291=) GRCh37: ChrX:110954939 GRCh38: ChrX:111711711	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 210549064.	NM_001099922.3(ALG13):c.1005+14T>C GRCh37: ChrX:110956539 GRCh38: ChrX:111713311	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 210235165.	NM_001099922.3(ALG13):c.3182C>T (p.Pro1061Leu) GRCh37: ChrX:111002995 GRCh38: ChrX:111759767	ALG13	P1061L, P820L, P982L, P983L, P878L	Developmental and epileptic encephalopathy, 36	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 209985466.	NM_001099922.3(ALG13):c.2687G>A (p.Gly896Asp) GRCh37: ChrX:110980099 GRCh38: ChrX:111736871	ALG13	G818D, G896D, G734D, G792D	Developmental and epileptic encephalopathy, 36	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 209976967.	NM_001099922.3(ALG13):c.2262C>T (p.Pro754=) GRCh37: ChrX:110971427 GRCh38: ChrX:111728199	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 209547268.	NM_001099922.3(ALG13):c.2296G>A (p.Val766Ile) GRCh37: ChrX:110971461 GRCh38: ChrX:111728233	ALG13	V766I, V662I, V688I, V604I	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 209317569.	NM_001099922.3(ALG13):c.3158C>T (p.Pro1053Leu) GRCh37: ChrX:111002971 GRCh38: ChrX:111759743	ALG13	P975L, P870L, P1053L, P812L, P974L	Developmental and epileptic encephalopathy, 36	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 209148870.	NM_001099922.3(ALG13):c.2283T>C (p.Thr761=) GRCh37: ChrX:110971448 GRCh38: ChrX:111728220	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 208873171.	NM_001099922.3(ALG13):c.1125T>C (p.Val375=) GRCh37: ChrX:110961377 GRCh38: ChrX:111718149	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 208735172.	NM_001099922.3(ALG13):c.834+14A>T GRCh37: ChrX:110952290 GRCh38: ChrX:111709062	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Feb 16, 2022)	criteria provided, single submitter
Select item 207646973.	NM_001099922.3(ALG13):c.288C>G (p.Leu96=) GRCh37: ChrX:110928236 GRCh38: ChrX:111685008	ALG13	R77G	Developmental and epileptic encephalopathy, 36	Benign (Feb 18, 2022)	criteria provided, single submitter
Select item 207499674.	NM_001099922.3(ALG13):c.1088-14C>T GRCh37: ChrX:110961326 GRCh38: ChrX:111718098	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 206971575.	NM_001099922.3(ALG13):c.750+6del GRCh37: ChrX:110951624 GRCh38: ChrX:111708396	ALG13		Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 206631676.	NM_001099922.3(ALG13):c.2798_2799insACCACCACCACCACCACCTCC (p.Pro945_Ala946insProProProProProProPro) GRCh37: ChrX:110987996-110987997 GRCh38: ChrX:111744768-111744769	ALG13		Developmental and epileptic encephalopathy, 36	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 204864677.	NM_001099922.3(ALG13):c.1436-5A>G GRCh37: ChrX:110966016 GRCh38: ChrX:111722788	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Feb 15, 2022)	criteria provided, single submitter
Select item 204806178.	NM_001099922.3(ALG13):c.383+13C>A GRCh37: ChrX:110928344 GRCh38: ChrX:111685116	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 204137479.	NM_001099922.3(ALG13):c.3290C>T (p.Pro1097Leu) GRCh37: ChrX:111003103 GRCh38: ChrX:111759875	ALG13	P1019L, P856L, P1097L, P914L, P1018L	Developmental and epileptic encephalopathy, 36	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 204053780.	NM_001099922.3(ALG13):c.2305C>T (p.Arg769Trp) GRCh37: ChrX:110971470 GRCh38: ChrX:111728242	ALG13	R691W, R607W, R769W, R665W	Developmental and epileptic encephalopathy, 36	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 203047381.	NM_001099922.3(ALG13):c.2530-11C>T GRCh37: ChrX:110979931 GRCh38: ChrX:111736703	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 202719882.	NM_001099922.3(ALG13):c.2932+16_2932+30del GRCh37: ChrX:110988146-110988160 GRCh38: ChrX:111744918-111744932	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 202685783.	NM_001099922.3(ALG13):c.1601+9A>G GRCh37: ChrX:110967135 GRCh38: ChrX:111723907	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202580284.	NM_001099922.3(ALG13):c.834+8G>C GRCh37: ChrX:110952284 GRCh38: ChrX:111709056	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 202126185.	NM_001099922.3(ALG13):c.835-15G>C GRCh37: ChrX:110954888 GRCh38: ChrX:111711660	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 202120786.	NM_001099922.3(ALG13):c.1245G>A (p.Gln415=) GRCh37: ChrX:110961497 GRCh38: ChrX:111718269	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 201411587.	NM_001099922.3(ALG13):c.2457+13T>A GRCh37: ChrX:110973821 GRCh38: ChrX:111730593	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 201368788.	NM_001099922.3(ALG13):c.2291A>G (p.Tyr764Cys) GRCh37: ChrX:110971456 GRCh38: ChrX:111728228	ALG13	Y660C, Y764C, Y602C, Y686C	Developmental and epileptic encephalopathy, 36	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 201293689.	NM_001099922.3(ALG13):c.2680A>G (p.Thr894Ala) GRCh37: ChrX:110980092 GRCh38: ChrX:111736864	ALG13	T816A, T732A, T790A, T894A	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 201125790.	NM_001099922.3(ALG13):c.3391C>T (p.His1131Tyr) GRCh37: ChrX:111003204 GRCh38: ChrX:111759976	ALG13	H1053Y, H1131Y, H890Y, H1052Y, H948Y	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 200997791.	NM_001099922.3(ALG13):c.1601+17T>G GRCh37: ChrX:110967143 GRCh38: ChrX:111723915	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 200828592.	NM_001099922.3(ALG13):c.1185C>T (p.Asn395=) GRCh37: ChrX:110961437 GRCh38: ChrX:111718209	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 200706493.	NM_001099922.3(ALG13):c.2792C>T (p.Pro931Leu) GRCh37: ChrX:110987992 GRCh38: ChrX:111744764	ALG13	P853L, P931L	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 200445594.	NM_001099922.3(ALG13):c.539C>T (p.Pro180Leu) GRCh37: ChrX:110951410 GRCh38: ChrX:111708182	ALG13	P102L, P180L, P76L	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200332295.	NM_001099922.3(ALG13):c.1449T>C (p.Ser483=) GRCh37: ChrX:110966034 GRCh38: ChrX:111722806	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 200238396.	NM_001099922.3(ALG13):c.1483T>G (p.Leu495Val) GRCh37: ChrX:110966068 GRCh38: ChrX:111722840	ALG13	L391V, L495V, L417V	Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 200116997.	NM_001099922.3(ALG13):c.1501-5T>C GRCh37: ChrX:110967021 GRCh38: ChrX:111723793	ALG13		Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 200098198.	NM_001099922.3(ALG13):c.1845G>A (p.Leu615=) GRCh37: ChrX:110970152 GRCh38: ChrX:111726924	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 200053399.	NM_001099922.3(ALG13):c.81+7G>A GRCh37: ChrX:110924534 GRCh38: ChrX:111681306	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 1997267100.	NM_001099922.3(ALG13):c.1983A>G (p.Ser661=) GRCh37: ChrX:110970566 GRCh38: ChrX:111727338	ALG13		Developmental and epileptic encephalopathy, 36	Likely benign (May 21, 2022)	criteria provided, single submitter

<< First< Prev

Page of 7