ClinVar for MedGen (Select 1714171) - ClinVar

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Items: 45

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25725411.	NM_001040142.2(SCN2A):c.477-2A>G GRCh37: Chr2:166165174 GRCh38: Chr2:165308664	SCN2A		Episodic ataxia, type 9	Likely pathogenic	criteria provided, single submitter
Select item 17078752.	NM_001040142.2(SCN2A):c.1303A>G (p.Thr435Ala) GRCh37: Chr2:166170538 GRCh38: Chr2:165314028	SCN2A	T435A	not provided, Episodic ataxia, type 9	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17042693.	NM_001040142.2(SCN2A):c.4789T>C (p.Phe1597Leu) GRCh37: Chr2:166243493 GRCh38: Chr2:165386983	SCN2A	F1597L	Episodic ataxia, type 9	Pathogenic (Sep 8, 2002)	no assertion criteria provided
Select item 17042684.	NM_001040142.2(SCN2A):c.781_782delinsTC (p.Val261Ser) GRCh37: Chr2:166166916-166166917 GRCh38: Chr2:165310406-165310407	SCN2A	V261S	Episodic ataxia, type 9	Likely pathogenic (Sep 8, 2002)	no assertion criteria provided
Select item 12909725.	NM_001040142.2(SCN2A):c.1671+49A>G GRCh37: Chr2:166172317 GRCh38: Chr2:165315807	SCN2A		not provided, Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12355306.	NM_001040142.2(SCN2A):c.268-28A>G GRCh37: Chr2:166153499 GRCh38: Chr2:165296989	SCN2A		not provided, Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10548637.	NM_001040142.2(SCN2A):c.3413C>G (p.Thr1138Ser) GRCh37: Chr2:166221666 GRCh38: Chr2:165365156	SCN2A	T1138S	Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10476128.	NM_001040142.2(SCN2A):c.5278A>G (p.Ile1760Val) GRCh37: Chr2:166245594 GRCh38: Chr2:165389084	SCN2A	I1760V	Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9887149.	NM_001040142.2(SCN2A):c.1912del (p.Leu638fs) GRCh37: Chr2:166179905 GRCh38: Chr2:165323395	SCN2A	L638fs	Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Likely pathogenic (Jun 3, 2020)	no assertion criteria provided
Select item 98871010.	NM_001040142.2(SCN2A):c.4822+1G>A GRCh37: Chr2:166243527 GRCh38: Chr2:165387017	SCN2A		Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Likely pathogenic (Feb 7, 2020)	no assertion criteria provided
Select item 98489511.	NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) GRCh37: Chr2:166179813 GRCh38: Chr2:165323303	SCN2A	R607*	Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Inborn genetic diseases, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not provided	Pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98481512.	NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp) GRCh37: Chr2:166165292 GRCh38: Chr2:165308782	SCN2A	V198D	Complex neurodevelopmental disorder	Likely pathogenic (Jun 8, 2018)	no assertion criteria provided
Select item 94676713.	NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter) GRCh37: Chr2:166166978 GRCh38: Chr2:165310468	SCN2A	W281*	not provided, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11	Pathogenic (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93295414.	NM_001040142.2(SCN2A):c.4901G>A (p.Gly1634Asp) GRCh37: Chr2:166245217 GRCh38: Chr2:165388707	SCN2A	G1634D	Episodic ataxia, type 9	Pathogenic (Jul 8, 2020)	no assertion criteria provided
Select item 87074715.	NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro) GRCh37: Chr2:166245265 GRCh38: Chr2:165388755	SCN2A	L1650P	not provided	Pathogenic (Jun 1, 2017)	criteria provided, single submitter
Select item 80177716.	NM_001040142.2(SCN2A):c.1384-2A>G GRCh37: Chr2:166171979 GRCh38: Chr2:165315469	SCN2A		Seizures, benign familial infantile, 3, Episodic ataxia, type 9	Likely pathogenic (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67068517.	NM_001040142.2(SCN2A):c.4255-31A>G GRCh37: Chr2:166234076 GRCh38: Chr2:165377566	SCN2A		Seizures, benign familial infantile, 3, Episodic ataxia, type 9, not provided, Developmental and epileptic encephalopathy, 11	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64706918.	NM_001040142.2(SCN2A):c.1561G>C (p.Asp521His) GRCh37: Chr2:166172158 GRCh38: Chr2:165315648	SCN2A	D521H	Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11	Conflicting interpretations of pathogenicity (Aug 13, 2021)	criteria provided, conflicting interpretations
Select item 62616419.	NM_001040142.2(SCN2A):c.2149+3A>C GRCh37: Chr2:166183497 GRCh38: Chr2:165326987	SCN2A		Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 62616320.	NM_001371246.1(SCN2A):c.687T>C (p.Ser229=) GRCh37: Chr2:166165756 GRCh38: Chr2:165309246	SCN2A		Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, not provided, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Conflicting interpretations of pathogenicity (Jun 14, 2021)	criteria provided, conflicting interpretations
Select item 62600821.	NM_001040142.2(SCN2A):c.4722C>A (p.Phe1574Leu) GRCh37: Chr2:166243426 GRCh38: Chr2:165386916	SCN2A	F1574L	Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 59019822.	NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) GRCh37: Chr2:166246069 GRCh38: Chr2:165389559	SCN2A	R1918H	Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy, 11, Inborn genetic diseases, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Episodic ataxia, type 9, not provided	Conflicting interpretations of pathogenicity (Aug 30, 2022)	criteria provided, conflicting interpretations
Select item 51494023.	NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) GRCh37: Chr2:166171999-166172001 GRCh38: Chr2:165315489-165315491	SCN2A	S468del	Episodic ataxia, type 9, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, not specified, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 46490724.	NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp) GRCh37: Chr2:166223735 GRCh38: Chr2:165367225	SCN2A	R1177W	Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Episodic ataxia, type 9, Inborn genetic diseases, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, not provided	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 46490525.	NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu) GRCh37: Chr2:166210831 GRCh38: Chr2:165354321	SCN2A	V1017L	Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Episodic ataxia, type 9, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, not provided	Uncertain significance (Dec 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41098226.	NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) GRCh37: Chr2:166229840 GRCh38: Chr2:165373330	SCN2A	R1319W	Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11	Pathogenic/Likely pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37892727.	NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) GRCh37: Chr2:166166916 GRCh38: Chr2:165310406	SCN2A	V261M	Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not provided, Seizures, benign familial infantile, 3	Pathogenic (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33173528.	NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) GRCh37: Chr2:166234112 GRCh38: Chr2:165377602	SCN2A		Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Episodic ataxia, type 9, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Conflicting interpretations of pathogenicity (Jul 22, 2022)	criteria provided, conflicting interpretations
Select item 28257929.	NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) GRCh37: Chr2:166246068 GRCh38: Chr2:165389558	SCN2A	R1918C	Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Inborn genetic diseases, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Episodic ataxia, type 9, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 26140030.	NM_001040142.2(SCN2A):c.1672-16C>T GRCh37: Chr2:166179650 GRCh38: Chr2:165323140	SCN2A		Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not provided, not specified, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20702831.	NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) GRCh37: Chr2:166245960 GRCh38: Chr2:165389450	SCN2A	R1882G	Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, not provided	Pathogenic (Nov 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20698832.	NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val) GRCh37: Chr2:166221738 GRCh38: Chr2:165365228	SCN2A	E1162V	not provided, Episodic ataxia, type 9, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 20698733.	NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) GRCh37: Chr2:166221710 GRCh38: Chr2:165365200	SCN2A	E1153K	Episodic ataxia, type 9, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, not specified, not provided, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 20697534.	NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) GRCh37: Chr2:166201198 GRCh38: Chr2:165344688	SCN2A	G899D	Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not provided	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 13901935.	NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) GRCh37: Chr2:166245642 GRCh38: Chr2:165389132	SCN2A		Seizures, benign familial infantile, 3, not specified, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Inborn genetic diseases, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13901836.	NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) GRCh37: Chr2:166245545 GRCh38: Chr2:165389035	SCN2A		Inborn genetic diseases, Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, not specified, not provided, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13022637.	NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) GRCh37: Chr2:166246235 GRCh38: Chr2:165389725	SCN2A		Inborn genetic diseases, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not specified, Seizures, benign familial infantile, 3	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13022338.	NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) GRCh37: Chr2:166245230 GRCh38: Chr2:165388720	SCN2A		Episodic ataxia, type 9, Inborn genetic diseases, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not specified, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13021939.	NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) GRCh37: Chr2:166201225 GRCh38: Chr2:165344715	SCN2A	K908R	Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Inborn genetic diseases, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not specified, not provided, Seizures, benign familial infantile, 3	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13021840.	NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) GRCh37: Chr2:166179836 GRCh38: Chr2:165323326	SCN2A		Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Inborn genetic diseases, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not specified, Seizures, benign familial infantile, 3	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13021641.	NM_001040142.2(SCN2A):c.1035-3T>C GRCh37: Chr2:166170127 GRCh38: Chr2:165313617	SCN2A		Episodic ataxia, type 9, Inborn genetic diseases, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not specified, not provided, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13021442.	NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) GRCh37: Chr2:166243269 GRCh38: Chr2:165386759	SCN2A	G1522A	Inborn genetic diseases, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not specified, not provided, Seizures, benign familial infantile, 3	Conflicting interpretations of pathogenicity (Aug 22, 2023)	criteria provided, conflicting interpretations
Select item 13021143.	NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) GRCh37: Chr2:166170504 GRCh38: Chr2:165313994	SCN2A		Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, Episodic ataxia, type 9, Inborn genetic diseases, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not specified, not provided, Seizures, benign familial infantile, 3	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 2988844.	NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) GRCh37: Chr2:166166923 GRCh38: Chr2:165310413	SCN2A	A263V	Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, not provided, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, SCN2A-related condition, Infantile spasms, Epileptic encephalopathy	Pathogenic (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1287845.	NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) GRCh37: Chr2:166201176 GRCh38: Chr2:165344666	SCN2A	V892I	Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3, not provided, Episodic ataxia, type 9, Developmental and epileptic encephalopathy, 11, Seizures, benign familial infantile, 3	Pathogenic/Likely pathogenic (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 45