ClinVar for MedGen (Select 394836) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24275311.	NC_000011.9:g.(?_118014528)_(118015964_?)del GRCh37: Chr11:118014528-118015964	SCN4B		Long QT syndrome 10	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 21918032.	NM_174934.4(SCN4B):c.133A>C (p.Asn45His) GRCh37: Chr11:118015873 GRCh38: Chr11:118145158	SCN4B	N45H	Long QT syndrome 10	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 21669333.	NM_174934.4(SCN4B):c.241_242delinsTT (p.Glu81Leu) GRCh37: Chr11:118014769-118014770 GRCh38: Chr11:118144054-118144055	LOC126861356, SCN4B	E81L	Long QT syndrome 10	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 20852514.	NM_174934.4(SCN4B):c.264G>T (p.Lys88Asn) GRCh37: Chr11:118014747 GRCh38: Chr11:118144032	LOC126861356, SCN4B	K88N	Long QT syndrome 10	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 20814575.	NM_174934.4(SCN4B):c.411G>A (p.Lys137=) GRCh37: Chr11:118014600 GRCh38: Chr11:118143885	LOC126861356, SCN4B		Long QT syndrome 10	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 20713356.	NM_174934.4(SCN4B):c.298C>A (p.Arg100Ser) GRCh37: Chr11:118014713 GRCh38: Chr11:118143998	LOC126861356, SCN4B	R100S	Long QT syndrome 10	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 20249017.	NM_174934.4(SCN4B):c.464-14C>T GRCh37: Chr11:118012065 GRCh38: Chr11:118141350	SCN4B		Long QT syndrome 10	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 19495418.	NM_174934.4(SCN4B):c.396T>C (p.His132=) GRCh37: Chr11:118014615 GRCh38: Chr11:118143900	LOC126861356, SCN4B		Cardiovascular phenotype, Long QT syndrome 10	Likely benign (Feb 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19493779.	NM_174934.4(SCN4B):c.270C>T (p.Asp90=) GRCh37: Chr11:118014741 GRCh38: Chr11:118144026	LOC126861356, SCN4B		Long QT syndrome 10	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 191301010.	NM_174934.4(SCN4B):c.636_637dup (p.Asn213fs) GRCh37: Chr11:118007791-118007792 GRCh38: Chr11:118137076-118137077	SCN4B	N103fs, N213fs, N79fs	Long QT syndrome 10	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 190678911.	NM_174934.4(SCN4B):c.235-20C>T GRCh37: Chr11:118014796 GRCh38: Chr11:118144081	LOC126861356, SCN4B		Long QT syndrome 10	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 189548112.	NM_174934.4(SCN4B):c.594-15T>C GRCh37: Chr11:118007850 GRCh38: Chr11:118137135	SCN4B		Long QT syndrome 10	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 180489513.	NM_174934.4(SCN4B):c.377C>T (p.Thr126Met) GRCh37: Chr11:118014634 GRCh38: Chr11:118143919	LOC126861356, SCN4B	T126M, T16M	Long QT syndrome 10	Uncertain significance (Jun 11, 2020)	criteria provided, single submitter
Select item 179656814.	NM_174934.4(SCN4B):c.282G>A (p.Thr94=) GRCh37: Chr11:118014729 GRCh38: Chr11:118144014	LOC126861356, SCN4B		Long QT syndrome 10, Cardiovascular phenotype	Benign/Likely benign (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178438415.	NM_174934.4(SCN4B):c.200G>A (p.Arg67Gln) GRCh37: Chr11:118015806 GRCh38: Chr11:118145091	SCN4B	R67Q	Long QT syndrome 10, Cardiovascular phenotype	Uncertain significance (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177672116.	NM_174934.4(SCN4B):c.104T>C (p.Val35Ala) GRCh37: Chr11:118015902 GRCh38: Chr11:118145187	SCN4B	V35A	Cardiovascular phenotype, Long QT syndrome 10	Uncertain significance (Feb 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174509017.	NM_174934.4(SCN4B):c.505G>A (p.Val169Ile) GRCh37: Chr11:118012010 GRCh38: Chr11:118141295	SCN4B	V35I, V59I, V169I	Cardiovascular phenotype, Long QT syndrome 10	Conflicting interpretations of pathogenicity (Aug 30, 2022)	criteria provided, conflicting interpretations
Select item 166161118.	NM_174934.4(SCN4B):c.546G>A (p.Leu182=) GRCh37: Chr11:118011969 GRCh38: Chr11:118141254	SCN4B		Cardiovascular phenotype, Long QT syndrome 10	Likely benign (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165521419.	NM_174934.4(SCN4B):c.234+14G>A GRCh37: Chr11:118015758 GRCh38: Chr11:118145043	SCN4B		Long QT syndrome 10	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 163081720.	NM_174934.4(SCN4B):c.627C>T (p.Asp209=) GRCh37: Chr11:118007802 GRCh38: Chr11:118137087	SCN4B		Long QT syndrome 10	Likely benign (Oct 15, 2021)	criteria provided, single submitter
Select item 162942521.	NM_174934.4(SCN4B):c.62-13G>A GRCh37: Chr11:118015957 GRCh38: Chr11:118145242	SCN4B		Long QT syndrome 10	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 162781322.	NM_174934.4(SCN4B):c.630C>T (p.Asn210=) GRCh37: Chr11:118007799 GRCh38: Chr11:118137084	SCN4B		Long QT syndrome 10	Likely benign (Jun 29, 2021)	criteria provided, single submitter
Select item 159694623.	NM_174934.4(SCN4B):c.594-17TC[2] GRCh37: Chr11:118007845-118007848 GRCh38: Chr11:118137130-118137133	SCN4B		Long QT syndrome 10	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 158019124.	NM_174934.4(SCN4B):c.33G>A (p.Pro11=) GRCh37: Chr11:118023356 GRCh38: Chr11:118152641	SCN4B		Long QT syndrome 10	Likely benign (Sep 5, 2021)	criteria provided, single submitter
Select item 156365025.	NM_174934.4(SCN4B):c.593+10T>C GRCh37: Chr11:118011912 GRCh38: Chr11:118141197	SCN4B		Long QT syndrome 10	Likely benign (Oct 15, 2021)	criteria provided, single submitter
Select item 155488726.	NM_174934.4(SCN4B):c.348T>C (p.Ile116=) GRCh37: Chr11:118014663 GRCh38: Chr11:118143948	LOC126861356, SCN4B		Long QT syndrome 10	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 153708627.	NM_174934.4(SCN4B):c.555A>G (p.Lys185=) GRCh37: Chr11:118011960 GRCh38: Chr11:118141245	SCN4B		Long QT syndrome 10	Likely benign (Feb 24, 2021)	criteria provided, single submitter
Select item 152404628.	NM_174934.4(SCN4B):c.658G>A (p.Ala220Thr) GRCh37: Chr11:118007771 GRCh38: Chr11:118137056	SCN4B	A110T, A220T, A86T	Long QT syndrome 10	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 150416029.	NM_174934.4(SCN4B):c.171C>A (p.Ser57Arg) GRCh37: Chr11:118015835 GRCh38: Chr11:118145120	SCN4B	S57R	Long QT syndrome 10	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 148462330.	NM_174934.4(SCN4B):c.259G>A (p.Glu87Lys) GRCh37: Chr11:118014752 GRCh38: Chr11:118144037	SCN4B, LOC126861356	E87K	Cardiovascular phenotype, Long QT syndrome 10	Uncertain significance (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146571031.	NM_174934.4(SCN4B):c.103G>A (p.Val35Met) GRCh37: Chr11:118015903 GRCh38: Chr11:118145188	SCN4B	V35M	Long QT syndrome 10, not provided	Uncertain significance (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146295832.	NM_174934.4(SCN4B):c.233T>G (p.Ile78Ser) GRCh37: Chr11:118015773 GRCh38: Chr11:118145058	SCN4B	I78S	Long QT syndrome 10	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 143914633.	NM_174934.4(SCN4B):c.513C>T (p.Gly171=) GRCh37: Chr11:118012002 GRCh38: Chr11:118141287	SCN4B		Cardiovascular phenotype, Long QT syndrome 10	Conflicting interpretations of pathogenicity (Feb 1, 2022)	criteria provided, conflicting interpretations
Select item 141406534.	NM_174934.4(SCN4B):c.234+1G>A GRCh37: Chr11:118015771 GRCh38: Chr11:118145056	SCN4B		Long QT syndrome 10	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140343335.	NM_174934.4(SCN4B):c.272C>A (p.Pro91His) GRCh37: Chr11:118014739 GRCh38: Chr11:118144024	LOC126861356, SCN4B	P91H	Long QT syndrome 10	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 139789336.	NM_174934.4(SCN4B):c.469G>C (p.Glu157Gln) GRCh37: Chr11:118012046 GRCh38: Chr11:118141331	SCN4B	E157Q, E23Q, E47Q	Cardiovascular phenotype, Long QT syndrome 10	Uncertain significance (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138743737.	NM_174934.4(SCN4B):c.464-11G>A GRCh37: Chr11:118012062 GRCh38: Chr11:118141347	SCN4B		Long QT syndrome 10	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter
Select item 136534538.	NM_174934.4(SCN4B):c.463C>T (p.Leu155=) GRCh37: Chr11:118014548 GRCh38: Chr11:118143833	LOC126861356, SCN4B		Cardiovascular phenotype, Long QT syndrome 10	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 136389539.	NM_174934.4(SCN4B):c.346del (p.Ile116fs) GRCh37: Chr11:118014665 GRCh38: Chr11:118143950	LOC126861356, SCN4B	I116fs, I6fs	Long QT syndrome 10	Uncertain significance (Oct 23, 2021)	criteria provided, single submitter
Select item 134176940.	NM_174934.4(SCN4B):c.61+1144T>A GRCh37: Chr11:118022184 GRCh38: Chr11:118151469	SCN4B		Long QT syndrome 10	Uncertain significance (Feb 9, 2021)	criteria provided, single submitter
Select item 127081641.	NM_174934.4(SCN4B):c.235-13C>T GRCh37: Chr11:118014789 GRCh38: Chr11:118144074	LOC126861356, SCN4B		Long QT syndrome 10, not provided	Benign/Likely benign (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121434442.	NM_174934.4(SCN4B):c.632C>T (p.Thr211Met) GRCh37: Chr11:118007797 GRCh38: Chr11:118137082	SCN4B	T101M, T211M, T77M	Long QT syndrome 10, not provided	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121157643.	NM_174934.4(SCN4B):c.347T>C (p.Ile116Thr) GRCh37: Chr11:118014664 GRCh38: Chr11:118143949	LOC126861356, SCN4B	I116T, I6T	not provided, Long QT syndrome 10	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117691744.	NM_174934.4(SCN4B):c.649G>T (p.Gly217Cys) GRCh37: Chr11:118007780 GRCh38: Chr11:118137065	SCN4B	G107C, G217C, G83C	Cardiovascular phenotype, Long QT syndrome 10, not provided	Uncertain significance (Jun 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116680045.	NM_174934.4(SCN4B):c.624T>C (p.Asn208=) GRCh37: Chr11:118007805 GRCh38: Chr11:118137090	SCN4B		Cardiovascular phenotype, Long QT syndrome 10	Benign/Likely benign (Nov 9, 2020)	criteria provided, multiple submitters, no conflicts
Select item 114358846.	NM_174934.4(SCN4B):c.75C>T (p.Leu25=) GRCh37: Chr11:118015931 GRCh38: Chr11:118145216	SCN4B		Long QT syndrome 10	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 114165547.	NM_174934.4(SCN4B):c.21A>G (p.Gly7=) GRCh37: Chr11:118023368 GRCh38: Chr11:118152653	SCN4B		Long QT syndrome 10, Cardiovascular phenotype	Likely benign (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 113920548.	NM_174934.4(SCN4B):c.62-5C>T GRCh37: Chr11:118015949 GRCh38: Chr11:118145234	SCN4B		Long QT syndrome 10	Likely benign (May 27, 2020)	criteria provided, single submitter
Select item 113155349.	NM_174934.4(SCN4B):c.294T>C (p.Asp98=) GRCh37: Chr11:118014717 GRCh38: Chr11:118144002	LOC126861356, SCN4B		Long QT syndrome 10	Likely benign (Jun 7, 2019)	criteria provided, single submitter
Select item 112815350.	NM_174934.4(SCN4B):c.597G>A (p.Lys199=) GRCh37: Chr11:118007832 GRCh38: Chr11:118137117	SCN4B		Long QT syndrome 10	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 110728551.	NM_174934.4(SCN4B):c.156C>G (p.Pro52=) GRCh37: Chr11:118015850 GRCh38: Chr11:118145135	SCN4B		Long QT syndrome 10	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 105929152.	NM_174934.4(SCN4B):c.198C>G (p.Phe66Leu) GRCh37: Chr11:118015808 GRCh38: Chr11:118145093	SCN4B	F66L	Long QT syndrome 10	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 105888053.	NM_174934.4(SCN4B):c.200G>T (p.Arg67Leu) GRCh37: Chr11:118015806 GRCh38: Chr11:118145091	SCN4B	R67L	Long QT syndrome 10	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter
Select item 105737754.	NM_174934.4(SCN4B):c.266C>G (p.Ser89Cys) GRCh37: Chr11:118014745 GRCh38: Chr11:118144030	LOC126861356, SCN4B	S89C	Long QT syndrome 10	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 104055955.	NM_174934.4(SCN4B):c.62-1G>A GRCh37: Chr11:118015945 GRCh38: Chr11:118145230	SCN4B		Long QT syndrome 10	Uncertain significance (Aug 20, 2020)	criteria provided, single submitter
Select item 104030256.	NM_174934.4(SCN4B):c.599A>G (p.Glu200Gly) GRCh37: Chr11:118007830 GRCh38: Chr11:118137115	SCN4B	E66G, E90G, E200G	Long QT syndrome 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 103732257.	NM_174934.4(SCN4B):c.475G>C (p.Asp159His) GRCh37: Chr11:118012040 GRCh38: Chr11:118141325	SCN4B	D25H, D159H, D49H	Long QT syndrome 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 97000158.	NM_174934.4(SCN4B):c.286A>G (p.Lys96Glu) GRCh37: Chr11:118014725 GRCh38: Chr11:118144010	LOC126861356, SCN4B	K96E	Long QT syndrome 10	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 96152559.	NM_174934.4(SCN4B):c.373G>A (p.Asp125Asn) GRCh37: Chr11:118014638 GRCh38: Chr11:118143923	LOC126861356, SCN4B	D125N, D15N	Long QT syndrome 10	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 96048260.	NM_174934.4(SCN4B):c.299G>C (p.Arg100Pro) GRCh37: Chr11:118014712 GRCh38: Chr11:118143997	LOC126861356, SCN4B	R100P	Long QT syndrome 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 94841861.	NM_174934.4(SCN4B):c.531CATCCT[1] (p.178IL[1]) GRCh37: Chr11:118011973-118011978 GRCh38: Chr11:118141258-118141263	SCN4B		Long QT syndrome 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 94587262.	NM_174934.4(SCN4B):c.359A>G (p.Asp120Gly) GRCh37: Chr11:118014652 GRCh38: Chr11:118143937	LOC126861356, SCN4B	D120G, D10G	Long QT syndrome 10	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 94340563.	NM_174934.4(SCN4B):c.100T>C (p.Ser34Pro) GRCh37: Chr11:118015906 GRCh38: Chr11:118145191	SCN4B	S34P	Long QT syndrome 10	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 92903964.	NM_174934.4(SCN4B):c.78C>T (p.Pro26=) GRCh37: Chr11:118015928 GRCh38: Chr11:118145213	SCN4B		Cardiovascular phenotype, not specified, Long QT syndrome 10	Likely benign (Sep 8, 2020)	criteria provided, multiple submitters, no conflicts
Select item 85681465.	NM_174934.4(SCN4B):c.89_94delinsAGCGACACCCTGT (p.Ser30_Glu32delinsTer) GRCh37: Chr11:118015912-118015917 GRCh38: Chr11:118145197-118145202	SCN4B		Long QT syndrome 10	Uncertain significance (Mar 7, 2019)	criteria provided, single submitter
Select item 85511466.	NM_174934.4(SCN4B):c.112G>A (p.Ala38Thr) GRCh37: Chr11:118015894 GRCh38: Chr11:118145179	SCN4B	A38T	Long QT syndrome 10	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 84116967.	NM_174934.4(SCN4B):c.353T>C (p.Leu118Pro) GRCh37: Chr11:118014658 GRCh38: Chr11:118143943	LOC126861356, SCN4B	L8P, L118P	Long QT syndrome 10	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 81199668.	NM_174934.4(SCN4B):c.62-16G>A GRCh37: Chr11:118015960 GRCh38: Chr11:118145245	SCN4B		not specified, Long QT syndrome 10	Conflicting interpretations of pathogenicity (Apr 9, 2022)	criteria provided, conflicting interpretations
Select item 77870269.	NM_174934.4(SCN4B):c.633G>A (p.Thr211=) GRCh37: Chr11:118007796 GRCh38: Chr11:118137081	SCN4B		Long QT syndrome 10, Cardiovascular phenotype	Likely benign (Feb 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 70415670.	NM_174934.4(SCN4B):c.579G>A (p.Lys193=) GRCh37: Chr11:118011936 GRCh38: Chr11:118141221	SCN4B		Cardiovascular phenotype, Long QT syndrome 10	Likely benign (Oct 16, 2020)	criteria provided, multiple submitters, no conflicts
Select item 70247771.	NM_174934.4(SCN4B):c.640G>A (p.Gly214Ser) GRCh37: Chr11:118007789 GRCh38: Chr11:118137074	SCN4B	G80S, G214S, G104S	Cardiovascular phenotype, Long QT syndrome 10	Likely benign (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69797572.	NM_174934.4(SCN4B):c.235-7C>T GRCh37: Chr11:118014783 GRCh38: Chr11:118144068	LOC126861356, SCN4B		Long QT syndrome 10	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 69225273.	NM_174934.4(SCN4B):c.61+1G>A GRCh37: Chr11:118023327 GRCh38: Chr11:118152612	SCN4B		Long QT syndrome 10	Uncertain significance (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66376574.	NM_174934.4(SCN4B):c.40T>G (p.Trp14Gly) GRCh37: Chr11:118023349 GRCh38: Chr11:118152634	SCN4B	W14G	Long QT syndrome 10, Cardiovascular phenotype	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65960475.	NC_000011.9:g.(?_118007722)_(119170511_?)del GRCh37: Chr11:118007722-119170511	DPAGT1, H2AX, NHERF4, ATP5MG, IFT46, SCN2B, PHLDB1, HINFP, JAML, UPK2, TMEM25, KMT2A, TRAPPC4, RPS25, CENATAC, VPS11, C2CD2L, UBE4A, MPZL2, ABCG4, DDX6, NLRX1, CXCR5, SLC37A4, CD3D, MPZL3, FOXR1, ARCN1, CD3E, CCDC153, HMBS, HYOU1, SCN4B, CBL, TTC36, CD3G, BCL9L, TREH		Long QT syndrome 10	Uncertain significance (May 2, 2019)	criteria provided, single submitter
Select item 64916576.	NM_174934.4(SCN4B):c.299G>A (p.Arg100His) GRCh37: Chr11:118014712 GRCh38: Chr11:118143997	LOC126861356, SCN4B	R100H	Long QT syndrome 10	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 63798877.	NM_174934.4(SCN4B):c.298C>T (p.Arg100Cys) GRCh37: Chr11:118014713 GRCh38: Chr11:118143998	LOC126861356, SCN4B	R100C	Long QT syndrome 10, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57421978.	NM_174934.4(SCN4B):c.520A>G (p.Ile174Val) GRCh37: Chr11:118011995 GRCh38: Chr11:118141280	SCN4B	I174V, I40V, I64V	Cardiovascular phenotype, Long QT syndrome 10	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56069379.	NM_174934.4(SCN4B):c.613T>C (p.Ser205Pro) GRCh37: Chr11:118007816 GRCh38: Chr11:118137101	SCN4B	S205P, S71P, S95P	Long QT syndrome 10	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53738480.	NM_174934.4(SCN4B):c.568A>C (p.Ile190Leu) GRCh37: Chr11:118011947 GRCh38: Chr11:118141232	SCN4B	I190L, I56L, I80L	Long QT syndrome 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 53738381.	NM_174934.4(SCN4B):c.376A>G (p.Thr126Ala) GRCh37: Chr11:118014635 GRCh38: Chr11:118143920	LOC126861356, SCN4B	T126A, T16A	Long QT syndrome 10	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 51928582.	NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala) GRCh37: Chr11:118015891 GRCh38: Chr11:118145176	SCN4B	T39A	Cardiovascular phenotype, Long QT syndrome 10, not specified	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51706883.	NM_174934.4(SCN4B):c.378G>A (p.Thr126=) GRCh37: Chr11:118014633 GRCh38: Chr11:118143918	LOC126861356, SCN4B		not specified, not provided, Cardiovascular phenotype, Long QT syndrome 10	Likely benign (Jul 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 50698084.	NM_174934.4(SCN4B):c.432C>T (p.His144=) GRCh37: Chr11:118014579 GRCh38: Chr11:118143864	SCN4B, LOC126861356		Cardiovascular phenotype, Long QT syndrome 10, not specified	Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49655385.	NM_174934.4(SCN4B):c.589A>G (p.Lys197Glu) GRCh37: Chr11:118011926 GRCh38: Chr11:118141211	SCN4B	K197E, K63E, K87E	not provided, Long QT syndrome 10	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45245786.	NM_174934.4(SCN4B):c.397G>A (p.Val133Met) GRCh37: Chr11:118014614 GRCh38: Chr11:118143899	LOC126861356, SCN4B	V133M, V23M	not provided, Long QT syndrome 10	Uncertain significance (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42067187.	NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro) GRCh37: Chr11:118011973 GRCh38: Chr11:118141258	SCN4B	L181P, L47P, L71P	Cardiovascular phenotype, not provided, Long QT syndrome 10	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 40396288.	NM_174934.4(SCN4B):c.544C>G (p.Leu182Val) GRCh37: Chr11:118011971 GRCh38: Chr11:118141256	SCN4B	L182V, L48V, L72V	Long QT syndrome 10	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 40396189.	NM_174934.4(SCN4B):c.596A>G (p.Lys199Arg) GRCh37: Chr11:118007833 GRCh38: Chr11:118137118	SCN4B	K199R, K65R, K89R	Long QT syndrome 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 39057190.	NM_174934.4(SCN4B):c.606C>T (p.Leu202=) GRCh37: Chr11:118007823 GRCh38: Chr11:118137108	SCN4B		not specified, Long QT syndrome 10	Likely benign (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37853791.	NM_174934.4(SCN4B):c.480C>T (p.Asn160=) GRCh37: Chr11:118012035 GRCh38: Chr11:118141320	SCN4B		Cardiovascular phenotype, Long QT syndrome 10, not specified	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30264992.	NM_174934.4(SCN4B):c.127G>A (p.Ala43Thr) GRCh37: Chr11:118015879 GRCh38: Chr11:118145164	SCN4B	A43T	Congenital long QT syndrome, Long QT syndrome 10	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30264693.	NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg) GRCh37: Chr11:118012033 GRCh38: Chr11:118141318	SCN4B	T161R, T27R, T51R	Congenital long QT syndrome, Long QT syndrome 10, not provided	Uncertain significance (Nov 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30263794.	NM_174934.4(SCN4B):c.*670G>T GRCh37: Chr11:118007072 GRCh38: Chr11:118136357	SCN4B		Congenital long QT syndrome, Long QT syndrome 10	Uncertain significance (Aug 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30262895.	NM_174934.4(SCN4B):c.*961A>G GRCh37: Chr11:118006781 GRCh38: Chr11:118136066	SCN4B		Congenital long QT syndrome, Long QT syndrome 10	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30261396.	NM_174934.4(SCN4B):c.*1410C>T GRCh37: Chr11:118006332 GRCh38: Chr11:118135617	SCN4B		Congenital long QT syndrome, Long QT syndrome 10	Uncertain significance (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30260297.	NM_174934.4(SCN4B):c.*2196G>A GRCh37: Chr11:118005546 GRCh38: Chr11:118134831	SCN4B		Congenital long QT syndrome, Long QT syndrome 10	Uncertain significance (Sep 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30258798.	NM_174934.4(SCN4B):c.*2977A>G GRCh37: Chr11:118004765 GRCh38: Chr11:118134050	SCN4B		Congenital long QT syndrome, Long QT syndrome 10	Uncertain significance (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 26418399.	NM_174934.4(SCN4B):c.594-2A>G GRCh37: Chr11:118007837 GRCh38: Chr11:118137122	SCN4B		not provided, Long QT syndrome 10, Cardiovascular phenotype	Uncertain significance (Jun 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 242025100.	NM_174934.4(SCN4B):c.507C>T (p.Val169=) GRCh37: Chr11:118012008 GRCh38: Chr11:118141293	SCN4B		Long QT syndrome 10	Likely benign (Mar 16, 2016)	criteria provided, single submitter

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