ClinVar for MedGen (Select 327586) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25024161.	NM_000891.3(KCNJ2):c.598G>A (p.Val200Met) GRCh37: Chr17:68171778 GRCh38: Chr17:70175637	KCNJ2	V200M	Andersen Tawil syndrome	Likely pathogenic	criteria provided, single submitter
Select item 24234332.	NC_000017.10:g.(?_68171181)_(68172464_?)del GRCh37: Chr17:68171181-68172464	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 24219253.	NM_000891.3(KCNJ2):c.207C>T (p.Leu69=) GRCh37: Chr17:68171387 GRCh38: Chr17:70175246	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 24181394.	NM_000891.3(KCNJ2):c.979G>A (p.Glu327Lys) GRCh37: Chr17:68172159 GRCh38: Chr17:70176018	KCNJ2	E327K	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 21968975.	NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr) GRCh37: Chr17:68171431 GRCh38: Chr17:70175290	KCNJ2	M84T	Andersen Tawil syndrome, Short QT syndrome type 3, not provided	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21916956.	NM_000891.3(KCNJ2):c.1254C>A (p.Pro418=) GRCh37: Chr17:68172434 GRCh38: Chr17:70176293	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 21905017.	NM_000891.3(KCNJ2):c.1244C>A (p.Pro415His) GRCh37: Chr17:68172424 GRCh38: Chr17:70176283	KCNJ2	P415H	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 21901488.	NM_000891.3(KCNJ2):c.459A>C (p.Glu153Asp) GRCh37: Chr17:68171639 GRCh38: Chr17:70175498	KCNJ2	E153D	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 21882539.	NM_000891.3(KCNJ2):c.531C>A (p.Gly177=) GRCh37: Chr17:68171711 GRCh38: Chr17:70175570	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 218400310.	NM_000891.3(KCNJ2):c.743T>C (p.Ile248Thr) GRCh37: Chr17:68171923 GRCh38: Chr17:70175782	KCNJ2	I248T	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 217925811.	NM_000891.3(KCNJ2):c.721G>A (p.Glu241Lys) GRCh37: Chr17:68171901 GRCh38: Chr17:70175760	KCNJ2	E241K	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 216558912.	NM_000891.3(KCNJ2):c.244C>A (p.Arg82=) GRCh37: Chr17:68171424 GRCh38: Chr17:70175283	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 216398313.	NM_000891.3(KCNJ2):c.923C>T (p.Thr308Met) GRCh37: Chr17:68172103 GRCh38: Chr17:70175962	KCNJ2	T308M	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 216232014.	NM_000891.3(KCNJ2):c.402C>T (p.Leu134=) GRCh37: Chr17:68171582 GRCh38: Chr17:70175441	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 216108715.	NM_000891.3(KCNJ2):c.638G>A (p.Arg213Gln) GRCh37: Chr17:68171818 GRCh38: Chr17:70175677	KCNJ2	R213Q	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 216107916.	NM_000891.3(KCNJ2):c.617G>A (p.Gly206Asp) GRCh37: Chr17:68171797 GRCh38: Chr17:70175656	KCNJ2	G206D	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 214961617.	NM_000891.3(KCNJ2):c.70A>G (p.Met24Val) GRCh37: Chr17:68171250 GRCh38: Chr17:70175109	KCNJ2	M24V	Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 214903618.	NM_000891.3(KCNJ2):c.510C>T (p.Ile170=) GRCh37: Chr17:68171690 GRCh38: Chr17:70175549	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 214755719.	NM_000891.3(KCNJ2):c.744A>G (p.Ile248Met) GRCh37: Chr17:68171924 GRCh38: Chr17:70175783	KCNJ2	I248M	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 214497220.	NM_000891.3(KCNJ2):c.723G>A (p.Glu241=) GRCh37: Chr17:68171903 GRCh38: Chr17:70175762	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 212658021.	NM_000891.3(KCNJ2):c.326T>A (p.Leu109His) GRCh37: Chr17:68171506 GRCh38: Chr17:70175365	KCNJ2	L109H	Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212083322.	NM_000891.3(KCNJ2):c.106A>G (p.Lys36Glu) GRCh37: Chr17:68171286 GRCh38: Chr17:70175145	KCNJ2	K36E	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Apr 2, 2022)	criteria provided, single submitter
Select item 211488723.	NM_000891.3(KCNJ2):c.1198A>G (p.Thr400Ala) GRCh37: Chr17:68172378 GRCh38: Chr17:70176237	KCNJ2	T400A	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211075824.	NM_000891.3(KCNJ2):c.410T>C (p.Ile137Thr) GRCh37: Chr17:68171590 GRCh38: Chr17:70175449	KCNJ2	I137T	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 209928325.	NM_000891.3(KCNJ2):c.578T>G (p.Leu193Arg) GRCh37: Chr17:68171758 GRCh38: Chr17:70175617	KCNJ2	L193R	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209846226.	NM_000891.3(KCNJ2):c.119G>T (p.Arg40Leu) GRCh37: Chr17:68171299 GRCh38: Chr17:70175158	KCNJ2	R40L	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 208915427.	NM_000891.3(KCNJ2):c.205C>T (p.Leu69Phe) GRCh37: Chr17:68171385 GRCh38: Chr17:70175244	KCNJ2	L69F	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 205948128.	NM_000891.3(KCNJ2):c.564G>A (p.Lys188=) GRCh37: Chr17:68171744 GRCh38: Chr17:70175603	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 205663029.	NM_000891.3(KCNJ2):c.1284A>G (p.Ter428Trp) GRCh37: Chr17:68172464 GRCh38: Chr17:70176323	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205662730.	NM_000891.3(KCNJ2):c.762T>C (p.Phe254=) GRCh37: Chr17:68171942 GRCh38: Chr17:70175801	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 205269731.	NM_000891.3(KCNJ2):c.31A>G (p.Ile11Val) GRCh37: Chr17:68171211 GRCh38: Chr17:70175070	KCNJ2	I11V	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 204963932.	NM_000891.3(KCNJ2):c.1010A>G (p.Tyr337Cys) GRCh37: Chr17:68172190 GRCh38: Chr17:70176049	KCNJ2	Y337C	Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 203632633.	NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn) GRCh37: Chr17:68171412 GRCh38: Chr17:70175271	KCNJ2	D78N	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 202480134.	NM_000891.3(KCNJ2):c.633G>A (p.Met211Ile) GRCh37: Chr17:68171813 GRCh38: Chr17:70175672	KCNJ2	M211I	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 202084035.	NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys) GRCh37: Chr17:68171404 GRCh38: Chr17:70175263	KCNJ2	T75K	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 201482536.	NM_000891.3(KCNJ2):c.1202A>G (p.Asp401Gly) GRCh37: Chr17:68172382 GRCh38: Chr17:70176241	KCNJ2	D401G	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 201024537.	NM_000891.3(KCNJ2):c.234C>T (p.Asp78=) GRCh37: Chr17:68171414 GRCh38: Chr17:70175273	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 199517838.	NM_000891.3(KCNJ2):c.586A>C (p.Ser196Arg) GRCh37: Chr17:68171766 GRCh38: Chr17:70175625	KCNJ2	S196R	Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 195236339.	NM_000891.3(KCNJ2):c.699A>G (p.Lys233=) GRCh37: Chr17:68171879 GRCh38: Chr17:70175738	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 195202040.	NM_000891.3(KCNJ2):c.317T>C (p.Ile106Thr) GRCh37: Chr17:68171497 GRCh38: Chr17:70175356	KCNJ2	I106T	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 192251841.	NM_000891.3(KCNJ2):c.417C>T (p.Thr139=) GRCh37: Chr17:68171597 GRCh38: Chr17:70175456	KCNJ2		Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Dec 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192089142.	NM_000891.3(KCNJ2):c.489C>T (p.Phe163=) GRCh37: Chr17:68171669 GRCh38: Chr17:70175528	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 192082843.	NM_000891.3(KCNJ2):c.591C>T (p.His197=) GRCh37: Chr17:68171771 GRCh38: Chr17:70175630	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Dec 16, 2021)	criteria provided, single submitter
Select item 188063444.	NM_000891.3(KCNJ2):c.13C>G (p.Arg5Gly) GRCh37: Chr17:68171193 GRCh38: Chr17:70175052	KCNJ2	R5G	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 180566845.	NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile) GRCh37: Chr17:68172349 GRCh38: Chr17:70176208	KCNJ2	S390I	Andersen Tawil syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 175991646.	NM_000891.3(KCNJ2):c.1248A>G (p.Leu416=) GRCh37: Chr17:68172428 GRCh38: Chr17:70176287	KCNJ2		Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175012147.	NM_000891.3(KCNJ2):c.585C>T (p.Phe195=) GRCh37: Chr17:68171765 GRCh38: Chr17:70175624	KCNJ2		Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (May 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174144148.	NM_000891.3(KCNJ2):c.1179A>G (p.Gly393=) GRCh37: Chr17:68172359 GRCh38: Chr17:70176218	KCNJ2		Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172313449.	NM_000891.3(KCNJ2):c.839A>G (p.Tyr280Cys) GRCh37: Chr17:68172019 GRCh38: Chr17:70175878	KCNJ2	Y280C	Andersen Tawil syndrome	Uncertain significance (Apr 12, 2022)	no assertion criteria provided
Select item 172313350.	NM_000891.3(KCNJ2):c.334G>T (p.Asp112Tyr) GRCh37: Chr17:68171514 GRCh38: Chr17:70175373	KCNJ2	D112Y	Andersen Tawil syndrome	Uncertain significance (Apr 12, 2022)	no assertion criteria provided
Select item 172055751.	NM_000891.3(KCNJ2):c.763G>C (p.Asp255His) GRCh37: Chr17:68171943 GRCh38: Chr17:70175802	KCNJ2	D255H	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 171999552.	NM_000891.3(KCNJ2):c.580G>T (p.Val194Phe) GRCh37: Chr17:68171760 GRCh38: Chr17:70175619	KCNJ2	V194F	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 171542753.	NM_000891.3(KCNJ2):c.553A>G (p.Lys185Glu) GRCh37: Chr17:68171733 GRCh38: Chr17:70175592	KCNJ2	K185E	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 168742054.	NM_000891.3(KCNJ2):c.203A>G (p.Tyr68Cys) GRCh37: Chr17:68171383 GRCh38: Chr17:70175242	KCNJ2	Y68C	Andersen Tawil syndrome	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 166319555.	NM_000891.3(KCNJ2):c.999G>A (p.Glu333=) GRCh37: Chr17:68172179 GRCh38: Chr17:70176038	KCNJ2		Short QT syndrome type 3, Andersen Tawil syndrome	Likely benign (Nov 17, 2020)	criteria provided, single submitter
Select item 166281656.	NM_000891.3(KCNJ2):c.810C>T (p.Val270=) GRCh37: Chr17:68171990 GRCh38: Chr17:70175849	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 164881657.	NM_000891.3(KCNJ2):c.684A>C (p.Arg228=) GRCh37: Chr17:68171864 GRCh38: Chr17:70175723	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 164751058.	NM_000891.3(KCNJ2):c.1005C>T (p.His335=) GRCh37: Chr17:68172185 GRCh38: Chr17:70176044	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Nov 2, 2020)	criteria provided, single submitter
Select item 162727559.	NM_000891.3(KCNJ2):c.99G>A (p.Gly33=) GRCh37: Chr17:68171279 GRCh38: Chr17:70175138	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 162492760.	NM_000891.3(KCNJ2):c.279C>T (p.Val93=) GRCh37: Chr17:68171459 GRCh38: Chr17:70175318	KCNJ2		Cardiovascular phenotype, Short QT syndrome type 3, Andersen Tawil syndrome	Likely benign (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160467861.	NM_000891.3(KCNJ2):c.186T>C (p.Gly62=) GRCh37: Chr17:68171366 GRCh38: Chr17:70175225	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 159534262.	NM_000891.3(KCNJ2):c.882C>T (p.Ile294=) GRCh37: Chr17:68172062 GRCh38: Chr17:70175921	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 159424863.	NM_000891.3(KCNJ2):c.1083A>G (p.Leu361=) GRCh37: Chr17:68172263 GRCh38: Chr17:70176122	KCNJ2		Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159424764.	NM_000891.3(KCNJ2):c.333G>A (p.Gly111=) GRCh37: Chr17:68171513 GRCh38: Chr17:70175372	KCNJ2		Short QT syndrome type 3, Andersen Tawil syndrome	Likely benign (Nov 27, 2020)	criteria provided, single submitter
Select item 159350965.	NM_000891.3(KCNJ2):c.1053C>T (p.Pro351=) GRCh37: Chr17:68172233 GRCh38: Chr17:70176092	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Mar 8, 2021)	criteria provided, single submitter
Select item 159149566.	NM_000891.3(KCNJ2):c.18C>A (p.Thr6=) GRCh37: Chr17:68171198 GRCh38: Chr17:70175057	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 158568867.	NM_000891.3(KCNJ2):c.306G>C (p.Val102=) GRCh37: Chr17:68171486 GRCh38: Chr17:70175345	KCNJ2		Short QT syndrome type 3, Andersen Tawil syndrome	Likely benign (Mar 24, 2021)	criteria provided, single submitter
Select item 158508468.	NM_000891.3(KCNJ2):c.435T>C (p.Tyr145=) GRCh37: Chr17:68171615 GRCh38: Chr17:70175474	KCNJ2		Cardiovascular phenotype, Short QT syndrome type 3, Andersen Tawil syndrome	Likely benign (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 157283769.	NM_000891.3(KCNJ2):c.126G>A (p.Gln42=) GRCh37: Chr17:68171306 GRCh38: Chr17:70175165	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 157265270.	NM_000891.3(KCNJ2):c.849T>C (p.Ser283=) GRCh37: Chr17:68172029 GRCh38: Chr17:70175888	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 155437671.	NM_000891.3(KCNJ2):c.690G>A (p.Gln230=) GRCh37: Chr17:68171870 GRCh38: Chr17:70175729	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Apr 26, 2021)	criteria provided, single submitter
Select item 154717072.	NM_000891.3(KCNJ2):c.42A>G (p.Ser14=) GRCh37: Chr17:68171222 GRCh38: Chr17:70175081	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Sep 25, 2021)	criteria provided, single submitter
Select item 154259873.	NM_000891.3(KCNJ2):c.285A>T (p.Ser95=) GRCh37: Chr17:68171465 GRCh38: Chr17:70175324	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 152348774.	NM_000891.3(KCNJ2):c.1096T>A (p.Tyr366Asn) GRCh37: Chr17:68172276 GRCh38: Chr17:70176135	KCNJ2	Y366N	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 152299875.	NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn) GRCh37: Chr17:68171282 GRCh38: Chr17:70175141	KCNJ2	K34N	Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (Feb 13, 2023)	criteria provided, conflicting interpretations
Select item 151509576.	NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser) GRCh37: Chr17:68171656 GRCh38: Chr17:70175515	KCNJ2	F159S	Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151405777.	NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys) GRCh37: Chr17:68172223 GRCh38: Chr17:70176082	KCNJ2	Y348C	Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 151398178.	NM_000891.3(KCNJ2):c.1264C>T (p.Arg422Trp) GRCh37: Chr17:68172444 GRCh38: Chr17:70176303	KCNJ2	R422W	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 151112079.	NC_000017.10:g.(?_68171181)_(68172464_?)dup GRCh37: Chr17:68171181-68172464	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Feb 16, 2021)	criteria provided, single submitter
Select item 151065980.	NM_000891.3(KCNJ2):c.466A>G (p.Ile156Val) GRCh37: Chr17:68171646 GRCh38: Chr17:70175505	KCNJ2	I156V	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 150713181.	NM_000891.3(KCNJ2):c.499G>A (p.Val167Met) GRCh37: Chr17:68171679 GRCh38: Chr17:70175538	KCNJ2	V167M	Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype	Uncertain significance (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149705982.	NM_000891.3(KCNJ2):c.1116T>G (p.Asn372Lys) GRCh37: Chr17:68172296 GRCh38: Chr17:70176155	KCNJ2	N372K	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 149623183.	NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr) GRCh37: Chr17:68171826 GRCh38: Chr17:70175685	KCNJ2	N216Y	Andersen Tawil syndrome, Short QT syndrome type 3	Likely pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 149140284.	NM_000891.3(KCNJ2):c.1115A>G (p.Asn372Ser) GRCh37: Chr17:68172295 GRCh38: Chr17:70176154	KCNJ2	N372S	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 149135785.	NM_000891.3(KCNJ2):c.453G>A (p.Thr151=) GRCh37: Chr17:68171633 GRCh38: Chr17:70175492	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 149087186.	NM_000891.3(KCNJ2):c.371C>G (p.Ser124Cys) GRCh37: Chr17:68171551 GRCh38: Chr17:70175410	KCNJ2	S124C	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Nov 25, 2021)	criteria provided, single submitter
Select item 148053387.	NM_000891.3(KCNJ2):c.290T>C (p.Leu97Pro) GRCh37: Chr17:68171470 GRCh38: Chr17:70175329	KCNJ2	L97P	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 148000888.	NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter) GRCh37: Chr17:68171816 GRCh38: Chr17:70175675	KCNJ2	W212*	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 3, 2021)	criteria provided, single submitter
Select item 147779589.	NM_000891.3(KCNJ2):c.779G>A (p.Arg260His) GRCh37: Chr17:68171959 GRCh38: Chr17:70175818	KCNJ2	R260H	Short QT syndrome type 3, Andersen Tawil syndrome	Likely pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 147558590.	NM_000891.3(KCNJ2):c.191A>G (p.Lys64Arg) GRCh37: Chr17:68171371 GRCh38: Chr17:70175230	KCNJ2	K64R	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 146686391.	NM_000891.3(KCNJ2):c.683G>A (p.Arg228Gln) GRCh37: Chr17:68171863 GRCh38: Chr17:70175722	KCNJ2	R228Q	Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 146497692.	NM_000891.3(KCNJ2):c.604G>A (p.Ala202Thr) GRCh37: Chr17:68171784 GRCh38: Chr17:70175643	KCNJ2	A202T	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 146429693.	NM_000891.3(KCNJ2):c.877G>C (p.Glu293Gln) GRCh37: Chr17:68172057 GRCh38: Chr17:70175916	KCNJ2	E293Q	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 144032794.	NM_000891.3(KCNJ2):c.1109A>G (p.Asn370Ser) GRCh37: Chr17:68172289 GRCh38: Chr17:70176148	KCNJ2	N370S	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 143634395.	NM_000891.3(KCNJ2):c.136C>T (p.Arg46Cys) GRCh37: Chr17:68171316 GRCh38: Chr17:70175175	KCNJ2	R46C	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 142531796.	NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe) GRCh37: Chr17:68171874 GRCh38: Chr17:70175733	KCNJ2	L232F	Cardiovascular phenotype, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Andersen Tawil syndrome, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142357797.	NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg) GRCh37: Chr17:68171329 GRCh38: Chr17:70175188	KCNJ2	K50R	Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142034198.	NM_000891.3(KCNJ2):c.179A>G (p.Asn60Ser) GRCh37: Chr17:68171359 GRCh38: Chr17:70175218	KCNJ2	N60S	Short QT syndrome type 3, Andersen Tawil syndrome, not provided	Uncertain significance (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141794299.	NM_000891.3(KCNJ2):c.1238G>T (p.Ser413Ile) GRCh37: Chr17:68172418 GRCh38: Chr17:70176277	KCNJ2	S413I	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 1415081100.	NM_000891.3(KCNJ2):c.1222C>T (p.Leu408Phe) GRCh37: Chr17:68172402 GRCh38: Chr17:70176261	KCNJ2	L408F	Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter

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