ClinVar for MedGen (Select 462781) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14253171.	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 14235772.	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 13874853.	NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val) GRCh37: Chr17:68171502 GRCh38: Chr17:70175361	KCNJ2	L108V	Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12807154.	NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT GRCh37: Chr17:68171019-68171020 GRCh38: Chr17:70174878-70174879	KCNJ2		Short QT syndrome type 3, Atrial fibrillation, familial, 9, Andersen Tawil syndrome, not provided	Benign/Likely benign (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12739195.	NM_000891.3(KCNJ2):c.-163_-162insTC GRCh37: Chr17:68171018-68171019 GRCh38: Chr17:70174877-70174878	KCNJ2		Short QT syndrome type 3, Atrial fibrillation, familial, 9, Andersen Tawil syndrome, not provided	Benign/Likely benign (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12537696.	NM_000891.3(KCNJ2):c.*2758T>C GRCh37: Chr17:68175222 GRCh38: Chr17:70179081	KCNJ2		not provided, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Benign (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12521007.	NM_000891.3(KCNJ2):c.*2752T>C GRCh37: Chr17:68175216 GRCh38: Chr17:70179075	KCNJ2		not provided, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Benign (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8922498.	NM_000891.3(KCNJ2):c.*2753T>C GRCh37: Chr17:68175217 GRCh38: Chr17:70179076	KCNJ2		not provided, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Conflicting interpretations of pathogenicity (May 13, 2021)	criteria provided, conflicting interpretations
Select item 8921919.	NM_000891.3(KCNJ2):c.*2339G>C GRCh37: Chr17:68174803 GRCh38: Chr17:70178662	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 89219010.	NM_000891.3(KCNJ2):c.*2328T>G GRCh37: Chr17:68174792 GRCh38: Chr17:70178651	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89213011.	NM_000891.3(KCNJ2):c.*1465A>G GRCh37: Chr17:68173929 GRCh38: Chr17:70177788	KCNJ2		Atrial fibrillation, familial, 9, Andersen Tawil syndrome, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (Jan 15, 2018)	criteria provided, conflicting interpretations
Select item 89200512.	NM_000891.3(KCNJ2):c.*210A>T GRCh37: Chr17:68172674 GRCh38: Chr17:70176533	KCNJ2		Atrial fibrillation, familial, 9, Andersen Tawil syndrome, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 89110613.	NM_000891.3(KCNJ2):c.*3173C>A GRCh37: Chr17:68175637 GRCh38: Chr17:70179496	KCNJ2		Atrial fibrillation, familial, 9, Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89102514.	NM_000891.3(KCNJ2):c.*2748T>C GRCh37: Chr17:68175212 GRCh38: Chr17:70179071	KCNJ2		not provided, Atrial fibrillation, familial, 9, Andersen Tawil syndrome, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (May 13, 2021)	criteria provided, conflicting interpretations
Select item 89089515.	NM_000891.3(KCNJ2):c.*1449C>T GRCh37: Chr17:68173913 GRCh38: Chr17:70177772	KCNJ2		Atrial fibrillation, familial, 9, Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89084716.	NM_000891.3(KCNJ2):c.*1266C>T GRCh37: Chr17:68173730 GRCh38: Chr17:70177589	KCNJ2		Atrial fibrillation, familial, 9, not provided, Andersen Tawil syndrome, Short QT syndrome type 3	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89084617.	NM_000891.3(KCNJ2):c.*1226C>G GRCh37: Chr17:68173690 GRCh38: Chr17:70177549	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89080818.	NM_000891.3(KCNJ2):c.*709A>G GRCh37: Chr17:68173173 GRCh38: Chr17:70177032	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89071919.	NM_000891.3(KCNJ2):c.1211C>G (p.Pro404Arg) GRCh37: Chr17:68172391 GRCh38: Chr17:70176250	KCNJ2	P404R	Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89066520.	NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys) GRCh37: Chr17:68171202 GRCh38: Chr17:70175061	KCNJ2	R8C	Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89053721.	NM_000891.3(KCNJ2):c.*3032A>G GRCh37: Chr17:68175496 GRCh38: Chr17:70179355	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89046222.	NM_000891.3(KCNJ2):c.*2508G>A GRCh37: Chr17:68174972 GRCh38: Chr17:70178831	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89039623.	NM_000891.3(KCNJ2):c.*2065A>G GRCh37: Chr17:68174529 GRCh38: Chr17:70178388	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89033224.	NM_000891.3(KCNJ2):c.*1361C>A GRCh37: Chr17:68173825 GRCh38: Chr17:70177684	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89018625.	NM_000891.3(KCNJ2):c.*108G>A GRCh37: Chr17:68172572 GRCh38: Chr17:70176431	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 88959226.	NM_000891.3(KCNJ2):c.*572G>T GRCh37: Chr17:68173036 GRCh38: Chr17:70176895	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 88959127.	NM_000891.3(KCNJ2):c.*308C>T GRCh37: Chr17:68172772 GRCh38: Chr17:70176631	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88952728.	NM_000891.3(KCNJ2):c.*39C>T GRCh37: Chr17:68172503 GRCh38: Chr17:70176362	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88952629.	NM_000891.3(KCNJ2):c.*35A>C GRCh37: Chr17:68172499 GRCh38: Chr17:70176358	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (Apr 27, 2017)	criteria provided, conflicting interpretations
Select item 88952530.	NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) GRCh37: Chr17:68172455 GRCh38: Chr17:70176314	KCNJ2		Andersen Tawil syndrome, Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 88945331.	NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly) GRCh37: Chr17:68171521 GRCh38: Chr17:70175380	KCNJ2	D114G	Andersen Tawil syndrome, Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88939832.	NM_000891.3(KCNJ2):c.-348G>A GRCh37: Chr17:68165711 GRCh38: Chr17:70169570	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88939733.	NM_000891.3(KCNJ2):c.-361G>C GRCh37: Chr17:68165698 GRCh38: Chr17:70169557	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88891534.	NM_000891.3(KCNJ2):c.*3409A>G GRCh37: Chr17:68175873 GRCh38: Chr17:70179732	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9	Uncertain significance (Jul 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88884335.	NM_000891.3(KCNJ2):c.*2887T>G GRCh37: Chr17:68175351 GRCh38: Chr17:70179210	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88884236.	NM_000891.3(KCNJ2):c.*2759T>C GRCh37: Chr17:68175223 GRCh38: Chr17:70179082	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, not provided, Atrial fibrillation, familial, 9	Conflicting interpretations of pathogenicity (May 13, 2021)	criteria provided, conflicting interpretations
Select item 88875437.	NM_000891.3(KCNJ2):c.*2370C>T GRCh37: Chr17:68174834 GRCh38: Chr17:70178693	KCNJ2		Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 88875338.	NM_000891.3(KCNJ2):c.*2343C>T GRCh37: Chr17:68174807 GRCh38: Chr17:70178666	KCNJ2		Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88868839.	NM_000891.3(KCNJ2):c.*1646T>C GRCh37: Chr17:68174110 GRCh38: Chr17:70177969	KCNJ2		Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88862940.	NM_000891.3(KCNJ2):c.*1345G>A GRCh37: Chr17:68173809 GRCh38: Chr17:70177668	KCNJ2		Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88862841.	NM_000891.3(KCNJ2):c.*1320C>T GRCh37: Chr17:68173784 GRCh38: Chr17:70177643	KCNJ2		Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88858542.	NM_000891.3(KCNJ2):c.*1030C>T GRCh37: Chr17:68173494 GRCh38: Chr17:70177353	KCNJ2		Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88858443.	NM_000891.3(KCNJ2):c.*879C>T GRCh37: Chr17:68173343 GRCh38: Chr17:70177202	KCNJ2		Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 70580644.	NM_000891.3(KCNJ2):c.303T>C (p.Cys101=) GRCh37: Chr17:68171483 GRCh38: Chr17:70175342	KCNJ2		Atrial fibrillation, familial, 9, Cardiovascular phenotype, not provided, Andersen Tawil syndrome, Short QT syndrome type 3, Andersen Tawil syndrome, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 68976945.	NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly) GRCh37: Chr17:68172076 GRCh38: Chr17:70175935	KCNJ2	E299G	Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9	Likely pathogenic (Dec 31, 2017)	criteria provided, single submitter
Select item 46846846.	NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp) GRCh37: Chr17:68172025 GRCh38: Chr17:70175884	KCNJ2	L282W	Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3, Andersen Tawil syndrome, Short QT syndrome type 3, not provided, Atrial fibrillation, familial, 9	Conflicting interpretations of pathogenicity (Mar 24, 2023)	criteria provided, conflicting interpretations
Select item 45320447.	NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser) GRCh37: Chr17:68171932 GRCh38: Chr17:70175791	KCNJ2	N251S	Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, not provided, Andersen Tawil syndrome, Short QT syndrome type 3	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44915248.	NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe) GRCh37: Chr17:68171482 GRCh38: Chr17:70175341	KCNJ2	C101F	Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9, not provided, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43184249.	NM_000891.3(KCNJ2):c.974G>A (p.Arg325His) GRCh37: Chr17:68172154 GRCh38: Chr17:70176013	KCNJ2	R325H	Cardiovascular phenotype, not provided, Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 40397750.	NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) GRCh37: Chr17:68171388 GRCh38: Chr17:70175247	KCNJ2	A70S	Cardiovascular phenotype, not provided, Andersen Tawil syndrome, Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37800751.	NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) GRCh37: Chr17:68172434 GRCh38: Chr17:70176293	KCNJ2		not specified, Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9	Conflicting interpretations of pathogenicity (Oct 31, 2021)	criteria provided, conflicting interpretations
Select item 37800552.	NM_000891.3(KCNJ2):c.867C>T (p.Asn289=) GRCh37: Chr17:68172047 GRCh38: Chr17:70175906	KCNJ2		Atrial fibrillation, familial, 9, Cardiovascular phenotype, not specified, Short QT syndrome type 3, Andersen Tawil syndrome, Andersen Tawil syndrome, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (Sep 3, 2022)	criteria provided, conflicting interpretations
Select item 32489853.	NM_000891.3(KCNJ2):c.*3618A>G GRCh37: Chr17:68176082 GRCh38: Chr17:70179941	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32489754.	NM_000891.3(KCNJ2):c.*3536C>T GRCh37: Chr17:68176000 GRCh38: Chr17:70179859	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome, Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9	Uncertain significance (Sep 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32489655.	NM_000891.3(KCNJ2):c.*3496T>C GRCh37: Chr17:68175960 GRCh38: Chr17:70179819	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32489356.	NM_000891.3(KCNJ2):c.*3353C>T GRCh37: Chr17:68175817 GRCh38: Chr17:70179676	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32489257.	NM_000891.3(KCNJ2):c.*3352T>A GRCh37: Chr17:68175816 GRCh38: Chr17:70179675	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32489158.	NM_000891.3(KCNJ2):c.*3208A>G GRCh37: Chr17:68175672 GRCh38: Chr17:70179531	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 32489059.	NM_000891.3(KCNJ2):c.*3163T>A GRCh37: Chr17:68175627 GRCh38: Chr17:70179486	KCNJ2		not provided, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 32488960.	NM_000891.3(KCNJ2):c.*3025G>A GRCh37: Chr17:68175489 GRCh38: Chr17:70179348	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32488861.	NM_000891.3(KCNJ2):c.*2893C>T GRCh37: Chr17:68175357 GRCh38: Chr17:70179216	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 32488662.	NM_000891.3(KCNJ2):c.*2812T>C GRCh37: Chr17:68175276 GRCh38: Chr17:70179135	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32488463.	NM_000891.3(KCNJ2):c.*2754T>C GRCh37: Chr17:68175218 GRCh38: Chr17:70179077	KCNJ2		not provided, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Conflicting interpretations of pathogenicity (May 13, 2021)	criteria provided, conflicting interpretations
Select item 32487964.	NM_000891.3(KCNJ2):c.*2775dup GRCh37: Chr17:68175205-68175206 GRCh38: Chr17:70179064-70179065	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Short QT syndrome, Familial atrial fibrillation, Andersen Tawil syndrome	Uncertain significance (Feb 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32487865.	NM_000891.3(KCNJ2):c.*2698T>C GRCh37: Chr17:68175162 GRCh38: Chr17:70179021	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Aug 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32487766.	NM_000891.3(KCNJ2):c.*2663T>C GRCh37: Chr17:68175127 GRCh38: Chr17:70178986	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32487667.	NM_000891.3(KCNJ2):c.*2616A>G GRCh37: Chr17:68175080 GRCh38: Chr17:70178939	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32487568.	NM_000891.3(KCNJ2):c.*2526A>G GRCh37: Chr17:68174990 GRCh38: Chr17:70178849	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32487469.	NM_000891.3(KCNJ2):c.*2483G>A GRCh37: Chr17:68174947 GRCh38: Chr17:70178806	KCNJ2		Andersen Tawil syndrome, Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Aug 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32487370.	NM_000891.3(KCNJ2):c.*2277C>T GRCh37: Chr17:68174741 GRCh38: Chr17:70178600	KCNJ2		Atrial fibrillation, familial, 9, Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32487271.	NM_000891.3(KCNJ2):c.*2270G>T GRCh37: Chr17:68174734 GRCh38: Chr17:70178593	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32487172.	NM_000891.3(KCNJ2):c.*2262C>T GRCh37: Chr17:68174726 GRCh38: Chr17:70178585	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 32487073.	NM_000891.3(KCNJ2):c.*2001A>G GRCh37: Chr17:68174465 GRCh38: Chr17:70178324	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32486974.	NM_000891.3(KCNJ2):c.*1815G>A GRCh37: Chr17:68174279 GRCh38: Chr17:70178138	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 32486875.	NM_000891.3(KCNJ2):c.*1794C>A GRCh37: Chr17:68174258 GRCh38: Chr17:70178117	KCNJ2		Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Jul 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32486076.	NM_000891.3(KCNJ2):c.*1631C>G GRCh37: Chr17:68174095 GRCh38: Chr17:70177954	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32485977.	NM_000891.3(KCNJ2):c.*1596A>C GRCh37: Chr17:68174060 GRCh38: Chr17:70177919	KCNJ2		not provided, Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Benign/Likely benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32485878.	NM_000891.3(KCNJ2):c.*1440A>T GRCh37: Chr17:68173904 GRCh38: Chr17:70177763	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32485779.	NM_000891.3(KCNJ2):c.*1412G>A GRCh37: Chr17:68173876 GRCh38: Chr17:70177735	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32485680.	NM_000891.3(KCNJ2):c.*1367T>C GRCh37: Chr17:68173831 GRCh38: Chr17:70177690	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32485581.	NM_000891.3(KCNJ2):c.*1350G>A GRCh37: Chr17:68173814 GRCh38: Chr17:70177673	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, not provided, Andersen Tawil syndrome	Benign/Likely benign (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32485482.	NM_000891.3(KCNJ2):c.*1267A>G GRCh37: Chr17:68173731 GRCh38: Chr17:70177590	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, not provided, Andersen Tawil syndrome	Benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32485383.	NM_000891.3(KCNJ2):c.*1251C>T GRCh37: Chr17:68173715 GRCh38: Chr17:70177574	KCNJ2		not provided, Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32485284.	NM_000891.3(KCNJ2):c.*1198A>G GRCh37: Chr17:68173662 GRCh38: Chr17:70177521	KCNJ2		not provided, Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32485185.	NM_000891.3(KCNJ2):c.*1128dup GRCh37: Chr17:68173591-68173592 GRCh38: Chr17:70177450-70177451	KCNJ2		Familial atrial fibrillation, Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Short QT syndrome, Andersen Tawil syndrome	Uncertain significance (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32485086.	NM_000891.3(KCNJ2):c.*1125G>A GRCh37: Chr17:68173589 GRCh38: Chr17:70177448	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32484987.	NM_000891.3(KCNJ2):c.*1069C>T GRCh37: Chr17:68173533 GRCh38: Chr17:70177392	KCNJ2		not provided, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32484888.	NM_000891.3(KCNJ2):c.*996C>T GRCh37: Chr17:68173460 GRCh38: Chr17:70177319	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 32484789.	NM_000891.3(KCNJ2):c.*832G>A GRCh37: Chr17:68173296 GRCh38: Chr17:70177155	KCNJ2		not provided, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32484690.	NM_000891.3(KCNJ2):c.*766C>T GRCh37: Chr17:68173230 GRCh38: Chr17:70177089	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 32484591.	NM_000891.3(KCNJ2):c.*732T>G GRCh37: Chr17:68173196 GRCh38: Chr17:70177055	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 32484492.	NM_000891.3(KCNJ2):c.*687A>C GRCh37: Chr17:68173151 GRCh38: Chr17:70177010	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32484293.	NM_000891.3(KCNJ2):c.*624G>A GRCh37: Chr17:68173088 GRCh38: Chr17:70176947	KCNJ2		not provided, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32484194.	NM_000891.3(KCNJ2):c.*596T>A GRCh37: Chr17:68173060 GRCh38: Chr17:70176919	KCNJ2		Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32484095.	NM_000891.3(KCNJ2):c.*558C>T GRCh37: Chr17:68173022 GRCh38: Chr17:70176881	KCNJ2		not provided, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32483896.	NM_000891.3(KCNJ2):c.*213G>A GRCh37: Chr17:68172677 GRCh38: Chr17:70176536	KCNJ2		Andersen Tawil syndrome, Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation, familial, 9, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Sep 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32483797.	NM_000891.3(KCNJ2):c.*211T>C GRCh37: Chr17:68172675 GRCh38: Chr17:70176534	KCNJ2		not provided, Atrial fibrillation, familial, 9, Short QT syndrome type 3, Andersen Tawil syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 32483698.	NM_000891.3(KCNJ2):c.*136G>A GRCh37: Chr17:68172600 GRCh38: Chr17:70176459	KCNJ2		not provided, Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Benign (Jun 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32483599.	NM_000891.3(KCNJ2):c.*124G>A GRCh37: Chr17:68172588 GRCh38: Chr17:70176447	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 324834100.	NM_000891.3(KCNJ2):c.*122G>A GRCh37: Chr17:68172586 GRCh38: Chr17:70176445	KCNJ2		Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Short QT syndrome type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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