ClinVar for MedGen (Select 79465) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26619001.	NM_001134407.3(GRIN2A):c.1849G>A (p.Val617Met) GRCh37: Chr16:9923438 GRCh38: Chr16:9829581	GRIN2A	V617M	Landau-Kleffner syndrome	Likely pathogenic (Sep 22, 2022)	no assertion criteria provided
Select item 26379732.	NM_001134407.3(GRIN2A):c.1329-1G>T GRCh37: Chr16:9934962 GRCh38: Chr16:9841105	GRIN2A		Landau-Kleffner syndrome	not provided	no assertion provided
Select item 25023683.	NM_001134407.3(GRIN2A):c.2844del (p.Gln950fs) GRCh37: Chr16:9858557 GRCh38: Chr16:9764700	GRIN2A	Q950fs	Landau-Kleffner syndrome	Uncertain significance (Apr 18, 2023)	criteria provided, single submitter
Select item 25016904.	NM_001134407.3(GRIN2A):c.3219del (p.Glu1073fs) GRCh37: Chr16:9858182 GRCh38: Chr16:9764325	GRIN2A	E1073fs	Landau-Kleffner syndrome	Likely pathogenic (Apr 12, 2023)	criteria provided, single submitter
Select item 25003525.	NM_001134407.3(GRIN2A):c.254_261del (p.His85fs) GRCh37: Chr16:10274008-10274015 GRCh38: Chr16:10180151-10180158	GRIN2A	H85fs	Landau-Kleffner syndrome	Likely pathogenic (Mar 6, 2023)	criteria provided, single submitter
Select item 25003456.	NM_001134407.3(GRIN2A):c.2047G>C (p.Gly683Arg) GRCh37: Chr16:9916242 GRCh38: Chr16:9822385	GRIN2A	G683R	Landau-Kleffner syndrome	Uncertain significance (Mar 3, 2023)	criteria provided, single submitter
Select item 24996017.	NM_001134407.3(GRIN2A):c.1924C>A (p.Leu642Met) GRCh37: Chr16:9923363 GRCh38: Chr16:9829506	GRIN2A	L642M	Landau-Kleffner syndrome	Likely pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 24442528.	NM_001134407.3(GRIN2A):c.253C>G (p.His85Asp) GRCh37: Chr16:10274016 GRCh38: Chr16:10180159	GRIN2A	H85D	Landau-Kleffner syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24406119.	NM_001134407.3(GRIN2A):c.942del (p.Glu315fs) GRCh37: Chr16:10031881 GRCh38: Chr16:9938024	GRIN2A	E315fs	Landau-Kleffner syndrome	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 243229110.	NM_001134407.3(GRIN2A):c.2323A>G (p.Ile775Val) GRCh37: Chr16:9892167 GRCh38: Chr16:9798310	GRIN2A	I775V	Landau-Kleffner syndrome	Uncertain significance (Jul 29, 2021)	criteria provided, single submitter
Select item 243229011.	NM_001134407.3(GRIN2A):c.734C>G (p.Ser245Cys) GRCh37: Chr16:10032089 GRCh38: Chr16:9938232	GRIN2A	S245C	Landau-Kleffner syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 243228912.	NM_001134407.3(GRIN2A):c.*6085G>A GRCh37: Chr16:9850921 GRCh38: Chr16:9757064	GRIN2A		Landau-Kleffner syndrome	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 243228813.	NM_001134407.3(GRIN2A):c.3877G>A (p.Asp1293Asn) GRCh37: Chr16:9857524 GRCh38: Chr16:9763667	GRIN2A	D1293N	Landau-Kleffner syndrome	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 243228714.	NM_001134407.3(GRIN2A):c.2620G>A (p.Val874Met) GRCh37: Chr16:9858781 GRCh38: Chr16:9764924	GRIN2A	V874M	Landau-Kleffner syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 243228615.	NM_001134407.3(GRIN2A):c.1006C>A (p.Pro336Thr) GRCh37: Chr16:10031817 GRCh38: Chr16:9937960	GRIN2A	P336T	Landau-Kleffner syndrome	Uncertain significance (Oct 1, 2021)	criteria provided, single submitter
Select item 243228516.	NM_001134407.3(GRIN2A):c.1084G>A (p.Val362Met) GRCh37: Chr16:9984881 GRCh38: Chr16:9891024	GRIN2A	V362M	Landau-Kleffner syndrome	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 243022917.	NM_001134407.3(GRIN2A):c.2008-1G>A GRCh37: Chr16:9916282 GRCh38: Chr16:9822425	GRIN2A		Landau-Kleffner syndrome	Pathogenic	criteria provided, single submitter
Select item 242822318.	NM_001134407.3(GRIN2A):c.3622C>T (p.Arg1208Trp) GRCh37: Chr16:9857779 GRCh38: Chr16:9763922	GRIN2A	R1208W	Landau-Kleffner syndrome	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 242341919.	NC_000016.9:g.(?_8829597)_(11683693_?)dup GRCh37: Chr16:8829597-11683693	ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7		Landau-Kleffner syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 242341820.	NC_000016.9:g.(?_10273835)_(10274268_?)del GRCh37: Chr16:10273835-10274268	GRIN2A		Landau-Kleffner syndrome	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 242341721.	NC_000016.9:g.(?_9984823)_(10032428_?)del GRCh37: Chr16:9984823-10032428	GRIN2A		Landau-Kleffner syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 242341622.	NC_000016.9:g.(?_10031796)_(10032428_?)del GRCh37: Chr16:10031796-10032428	GRIN2A		Landau-Kleffner syndrome	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 241851223.	NM_001134407.3(GRIN2A):c.2166G>A (p.Thr722=) GRCh37: Chr16:9916123 GRCh38: Chr16:9822266	GRIN2A		Landau-Kleffner syndrome, not provided	Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241504824.	NM_001134407.3(GRIN2A):c.3250G>C (p.Asp1084His) GRCh37: Chr16:9858151 GRCh38: Chr16:9764294	GRIN2A	D1084H	Landau-Kleffner syndrome	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 241359825.	NM_001134407.3(GRIN2A):c.3543C>T (p.Asn1181=) GRCh37: Chr16:9857858 GRCh38: Chr16:9764001	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 220206726.	NM_001134407.3(GRIN2A):c.1777+7G>A GRCh37: Chr16:9927955 GRCh38: Chr16:9834098	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 219981227.	NM_001134407.3(GRIN2A):c.3207G>T (p.Thr1069=) GRCh37: Chr16:9858194 GRCh38: Chr16:9764337	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 219494228.	NM_001134407.3(GRIN2A):c.926A>G (p.Lys309Arg) GRCh37: Chr16:10031897 GRCh38: Chr16:9938040	GRIN2A	K309R	Landau-Kleffner syndrome	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 219441529.	NM_001134407.3(GRIN2A):c.1651+11T>A GRCh37: Chr16:9934493 GRCh38: Chr16:9840636	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 218976430.	NM_001134407.3(GRIN2A):c.2595+18C>A GRCh37: Chr16:9862690 GRCh38: Chr16:9768833	GRIN2A		Landau-Kleffner syndrome	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 218322131.	NM_001134407.3(GRIN2A):c.414+8C>T GRCh37: Chr16:10273847 GRCh38: Chr16:10179990	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 218251832.	NM_001134407.3(GRIN2A):c.2537G>A (p.Arg846His) GRCh37: Chr16:9862766 GRCh38: Chr16:9768909	GRIN2A	R846H	not provided, Landau-Kleffner syndrome	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 217029933.	NM_001134407.3(GRIN2A):c.2962C>G (p.Leu988Val) GRCh37: Chr16:9858439 GRCh38: Chr16:9764582	GRIN2A	L988V	Landau-Kleffner syndrome	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 216792034.	NM_001134407.3(GRIN2A):c.3475C>T (p.Arg1159Cys) GRCh37: Chr16:9857926 GRCh38: Chr16:9764069	GRIN2A	R1159C	Landau-Kleffner syndrome	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 216340335.	NM_001134407.3(GRIN2A):c.1651+16A>C GRCh37: Chr16:9934488 GRCh38: Chr16:9840631	GRIN2A		Landau-Kleffner syndrome	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 216184836.	NM_001134407.3(GRIN2A):c.3927G>C (p.Arg1309=) GRCh37: Chr16:9857474 GRCh38: Chr16:9763617	GRIN2A		Landau-Kleffner syndrome	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 216112937.	NM_001134407.3(GRIN2A):c.4357G>T (p.Val1453Leu) GRCh37: Chr16:9857044 GRCh38: Chr16:9763187	GRIN2A	V1453L	Landau-Kleffner syndrome	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 215896038.	NM_001134407.3(GRIN2A):c.1044A>G (p.Leu348=) GRCh37: Chr16:9984921 GRCh38: Chr16:9891064	GRIN2A		Landau-Kleffner syndrome	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 215807639.	NM_001134407.3(GRIN2A):c.4266G>A (p.Val1422=) GRCh37: Chr16:9857135 GRCh38: Chr16:9763278	GRIN2A		Landau-Kleffner syndrome	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 215801540.	NM_001134407.3(GRIN2A):c.4085C>G (p.Thr1362Ser) GRCh37: Chr16:9857316 GRCh38: Chr16:9763459	GRIN2A	T1362S	Landau-Kleffner syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 215697241.	NM_001134407.3(GRIN2A):c.4042C>T (p.Leu1348=) GRCh37: Chr16:9857359 GRCh38: Chr16:9763502	GRIN2A		Landau-Kleffner syndrome	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 215624242.	NM_001134407.3(GRIN2A):c.916A>G (p.Met306Val) GRCh37: Chr16:10031907 GRCh38: Chr16:9938050	GRIN2A	M306V	Landau-Kleffner syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 215492943.	NM_001134407.3(GRIN2A):c.3567G>A (p.Lys1189=) GRCh37: Chr16:9857834 GRCh38: Chr16:9763977	GRIN2A		Landau-Kleffner syndrome	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 215479344.	NM_001134407.3(GRIN2A):c.1141C>A (p.His381Asn) GRCh37: Chr16:9943800 GRCh38: Chr16:9849943	GRIN2A	H381N	Landau-Kleffner syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 215403445.	NM_001134407.3(GRIN2A):c.2178C>T (p.Asp726=) GRCh37: Chr16:9892312 GRCh38: Chr16:9798455	GRIN2A		Landau-Kleffner syndrome	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 215319946.	NM_001134407.3(GRIN2A):c.1308T>C (p.Cys436=) GRCh37: Chr16:9943633 GRCh38: Chr16:9849776	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 215225847.	NM_001134407.3(GRIN2A):c.3245C>T (p.Thr1082Ile) GRCh37: Chr16:9858156 GRCh38: Chr16:9764299	GRIN2A	T1082I	Landau-Kleffner syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 215088448.	NM_001134407.3(GRIN2A):c.1426G>A (p.Asp476Asn) GRCh37: Chr16:9934864 GRCh38: Chr16:9841007	GRIN2A	D476N	Landau-Kleffner syndrome	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 214994249.	NM_001134407.3(GRIN2A):c.1784A>G (p.His595Arg) GRCh37: Chr16:9923503 GRCh38: Chr16:9829646	GRIN2A	H595R	Landau-Kleffner syndrome	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 214696450.	NM_001134407.3(GRIN2A):c.1442C>T (p.Thr481Ile) GRCh37: Chr16:9934848 GRCh38: Chr16:9840991	GRIN2A	T481I	Landau-Kleffner syndrome	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 214641251.	NM_001134407.3(GRIN2A):c.1145C>G (p.Thr382Arg) GRCh37: Chr16:9943796 GRCh38: Chr16:9849939	GRIN2A	T382R	Landau-Kleffner syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 214583952.	NM_001134407.3(GRIN2A):c.4223C>T (p.Thr1408Met) GRCh37: Chr16:9857178 GRCh38: Chr16:9763321	GRIN2A	T1408M	Landau-Kleffner syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 214494953.	NM_001134407.3(GRIN2A):c.2357-17T>C GRCh37: Chr16:9862963 GRCh38: Chr16:9769106	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 214323354.	NM_001134407.3(GRIN2A):c.1254C>A (p.Ile418=) GRCh37: Chr16:9943687 GRCh38: Chr16:9849830	GRIN2A		Landau-Kleffner syndrome	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 213918155.	NM_001134407.3(GRIN2A):c.3602G>A (p.Ser1201Asn) GRCh37: Chr16:9857799 GRCh38: Chr16:9763942	GRIN2A	S1201N	Landau-Kleffner syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 213378156.	NM_001134407.3(GRIN2A):c.2063G>A (p.Gly688Glu) GRCh37: Chr16:9916226 GRCh38: Chr16:9822369	GRIN2A	G688E	Landau-Kleffner syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213129457.	NM_001134407.3(GRIN2A):c.979C>A (p.Pro327Thr) GRCh37: Chr16:10031844 GRCh38: Chr16:9937987	GRIN2A	P327T	Landau-Kleffner syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 212841058.	NM_001134407.3(GRIN2A):c.1651G>T (p.Glu551Ter) GRCh37: Chr16:9934504 GRCh38: Chr16:9840647	GRIN2A	E551*	Landau-Kleffner syndrome	Pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 212797959.	NM_001134407.3(GRIN2A):c.4031T>C (p.Phe1344Ser) GRCh37: Chr16:9857370 GRCh38: Chr16:9763513	GRIN2A	F1344S	Landau-Kleffner syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212718160.	NM_001134407.3(GRIN2A):c.1081C>T (p.Leu361=) GRCh37: Chr16:9984884 GRCh38: Chr16:9891027	GRIN2A		Landau-Kleffner syndrome	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 212644361.	NM_001134407.3(GRIN2A):c.414+15T>C GRCh37: Chr16:10273840 GRCh38: Chr16:10179983	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jun 6, 2022)	criteria provided, single submitter
Select item 212641162.	NM_001134407.3(GRIN2A):c.904G>C (p.Ala302Pro) GRCh37: Chr16:10031919 GRCh38: Chr16:9938062	GRIN2A	A302P	Landau-Kleffner syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212504263.	NM_001134407.3(GRIN2A):c.2889C>G (p.Leu963=) GRCh37: Chr16:9858512 GRCh38: Chr16:9764655	GRIN2A		Landau-Kleffner syndrome	Benign (Aug 29, 2022)	criteria provided, single submitter
Select item 212504164.	NM_001134407.3(GRIN2A):c.3207G>C (p.Thr1069=) GRCh37: Chr16:9858194 GRCh38: Chr16:9764337	GRIN2A		Landau-Kleffner syndrome	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 212319465.	NM_001134407.3(GRIN2A):c.2048G>A (p.Gly683Glu) GRCh37: Chr16:9916241 GRCh38: Chr16:9822384	GRIN2A	G683E	Landau-Kleffner syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212318866.	NM_001134407.3(GRIN2A):c.2792T>C (p.Ile931Thr) GRCh37: Chr16:9858609 GRCh38: Chr16:9764752	GRIN2A	I931T	Landau-Kleffner syndrome	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 212136867.	NM_001134407.3(GRIN2A):c.1520T>C (p.Met507Thr) GRCh37: Chr16:9934635 GRCh38: Chr16:9840778	GRIN2A	M507T	Landau-Kleffner syndrome	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 212029568.	NM_001134407.3(GRIN2A):c.4219T>G (p.Ser1407Ala) GRCh37: Chr16:9857182 GRCh38: Chr16:9763325	GRIN2A	S1407A	Landau-Kleffner syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211756669.	NM_001134407.3(GRIN2A):c.2995_2996insAGGTGT (p.Ala999delinsGluValSer) GRCh37: Chr16:9858405-9858406 GRCh38: Chr16:9764548-9764549	GRIN2A		Landau-Kleffner syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211618070.	NM_001134407.3(GRIN2A):c.2356G>A (p.Gly786Ser) GRCh37: Chr16:9892134 GRCh38: Chr16:9798277	GRIN2A	G786S	Landau-Kleffner syndrome	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211558971.	NM_001134407.3(GRIN2A):c.404T>C (p.Met135Thr) GRCh37: Chr16:10273865 GRCh38: Chr16:10180008	GRIN2A	M135T	Landau-Kleffner syndrome	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 211558872.	NM_001134407.3(GRIN2A):c.3064C>G (p.Arg1022Gly) GRCh37: Chr16:9858337 GRCh38: Chr16:9764480	GRIN2A	R1022G	Landau-Kleffner syndrome	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 211430773.	NM_001134407.3(GRIN2A):c.2090A>G (p.Asn697Ser) GRCh37: Chr16:9916199 GRCh38: Chr16:9822342	GRIN2A	N697S	Landau-Kleffner syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211394574.	NM_001134407.3(GRIN2A):c.1993C>G (p.Leu665Val) GRCh37: Chr16:9923294 GRCh38: Chr16:9829437	GRIN2A	L665V	Landau-Kleffner syndrome	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 210645675.	NM_001134407.3(GRIN2A):c.1087G>A (p.Val363Met) GRCh37: Chr16:9984878 GRCh38: Chr16:9891021	GRIN2A	V363M	Landau-Kleffner syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210529076.	NM_001134407.3(GRIN2A):c.2596-17A>G GRCh37: Chr16:9858822 GRCh38: Chr16:9764965	GRIN2A		Landau-Kleffner syndrome	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 210333777.	NM_001134407.3(GRIN2A):c.4026C>T (p.Ser1342=) GRCh37: Chr16:9857375 GRCh38: Chr16:9763518	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 210016778.	NM_001134407.3(GRIN2A):c.2326G>A (p.Asp776Asn) GRCh37: Chr16:9892164 GRCh38: Chr16:9798307	GRIN2A	D776N	Landau-Kleffner syndrome	Likely pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 209993079.	NM_001134407.3(GRIN2A):c.3612C>G (p.Ser1204Arg) GRCh37: Chr16:9857789 GRCh38: Chr16:9763932	GRIN2A	S1204R	Landau-Kleffner syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 209906780.	NM_001134407.3(GRIN2A):c.440T>C (p.Phe147Ser) GRCh37: Chr16:10032383 GRCh38: Chr16:9938526	GRIN2A	F147S	Landau-Kleffner syndrome	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 209815481.	NM_001134407.3(GRIN2A):c.3904C>T (p.Leu1302=) GRCh37: Chr16:9857497 GRCh38: Chr16:9763640	GRIN2A		Landau-Kleffner syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 209606982.	NM_001134407.3(GRIN2A):c.3223G>A (p.Asp1075Asn) GRCh37: Chr16:9858178 GRCh38: Chr16:9764321	GRIN2A	D1075N	Landau-Kleffner syndrome	Benign (Aug 9, 2022)	criteria provided, single submitter
Select item 209563983.	NM_001134407.3(GRIN2A):c.3485A>G (p.Asp1162Gly) GRCh37: Chr16:9857916 GRCh38: Chr16:9764059	GRIN2A	D1162G	Landau-Kleffner syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209389084.	NM_001134407.3(GRIN2A):c.3304G>T (p.Glu1102Ter) GRCh37: Chr16:9858097 GRCh38: Chr16:9764240	GRIN2A	E1102*	Landau-Kleffner syndrome	Pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 208846485.	NM_001134407.3(GRIN2A):c.1432T>C (p.Tyr478His) GRCh37: Chr16:9934858 GRCh38: Chr16:9841001	GRIN2A	Y478H	Landau-Kleffner syndrome	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 208539086.	NM_001134407.3(GRIN2A):c.1815A>T (p.Ile605=) GRCh37: Chr16:9923472 GRCh38: Chr16:9829615	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 208451387.	NM_001134407.3(GRIN2A):c.294C>G (p.Leu98=) GRCh37: Chr16:10273975 GRCh38: Chr16:10180118	GRIN2A		Landau-Kleffner syndrome	Benign (Jun 23, 2022)	criteria provided, single submitter
Select item 208243388.	NM_001134407.3(GRIN2A):c.2117C>T (p.Thr706Ile) GRCh37: Chr16:9916172 GRCh38: Chr16:9822315	GRIN2A	T706I	Landau-Kleffner syndrome	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 208230989.	NM_001134407.3(GRIN2A):c.3227A>G (p.Asn1076Ser) GRCh37: Chr16:9858174 GRCh38: Chr16:9764317	GRIN2A	N1076S	Landau-Kleffner syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 208006690.	NM_001134407.3(GRIN2A):c.3129C>G (p.Thr1043=) GRCh37: Chr16:9858272 GRCh38: Chr16:9764415	GRIN2A		Landau-Kleffner syndrome	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 207978791.	NM_001134407.3(GRIN2A):c.3928A>C (p.Ser1310Arg) GRCh37: Chr16:9857473 GRCh38: Chr16:9763616	GRIN2A	S1310R	Landau-Kleffner syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 207806692.	NM_001134407.3(GRIN2A):c.3410A>T (p.Glu1137Val) GRCh37: Chr16:9857991 GRCh38: Chr16:9764134	GRIN2A	E1137V	Landau-Kleffner syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 207698393.	NM_001134407.3(GRIN2A):c.3196A>T (p.Asn1066Tyr) GRCh37: Chr16:9858205 GRCh38: Chr16:9764348	GRIN2A	N1066Y	Landau-Kleffner syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 207256694.	NM_001134407.3(GRIN2A):c.1752C>T (p.Tyr584=) GRCh37: Chr16:9927987 GRCh38: Chr16:9834130	GRIN2A		Landau-Kleffner syndrome	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 207044395.	NM_001134407.3(GRIN2A):c.1446T>C (p.Asn482=) GRCh37: Chr16:9934844 GRCh38: Chr16:9840987	GRIN2A		Landau-Kleffner syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 206332496.	NM_001134407.3(GRIN2A):c.2251G>A (p.Gly751Arg) GRCh37: Chr16:9892239 GRCh38: Chr16:9798382	GRIN2A	G751R	Landau-Kleffner syndrome	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 206108597.	NM_001134407.3(GRIN2A):c.3633C>T (p.Ser1211=) GRCh37: Chr16:9857768 GRCh38: Chr16:9763911	GRIN2A		Landau-Kleffner syndrome	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 206054398.	NM_001134407.3(GRIN2A):c.1908C>G (p.Phe636Leu) GRCh37: Chr16:9923379 GRCh38: Chr16:9829522	GRIN2A	F636L	Landau-Kleffner syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 206039699.	NM_001134407.3(GRIN2A):c.4252G>T (p.Gly1418Cys) GRCh37: Chr16:9857149 GRCh38: Chr16:9763292	GRIN2A	G1418C	Landau-Kleffner syndrome	Likely benign (Jul 9, 2020)	criteria provided, single submitter
Select item 2057543100.	NM_001134407.3(GRIN2A):c.166G>A (p.Gly56Ser) GRCh37: Chr16:10274103 GRCh38: Chr16:10180246	GRIN2A	G56S	Landau-Kleffner syndrome	Likely benign (Jul 5, 2022)	criteria provided, single submitter

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