ClinVar for MedGen (Select 1641146) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25023151.	NM_000218.3(KCNQ1):c.248del (p.Pro83fs) GRCh37: Chr11:2466575 GRCh38: Chr11:2445345	KCNQ1	P83fs	Long QT syndrome 1	Likely pathogenic (Apr 27, 2023)	criteria provided, single submitter
Select item 25022132.	NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu) GRCh37: Chr11:2606499 GRCh38: Chr11:2585269	KCNQ1	F237L, F274L, F364L	Short QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 25000493.	NM_000218.3(KCNQ1):c.387-6394G>C GRCh37: Chr11:2542764 GRCh38: Chr11:2521534	KCNQ1	S27T	Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Long QT syndrome 1	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24464264.	NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg) GRCh37: Chr11:2591915 GRCh38: Chr11:2570685	KCNQ1	G179R, G52R, G89R	Long QT syndrome 1	Likely pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 24242285.	NC_000002.11:g.(?_47387915)_(47397923_?)dup GRCh37: Chr2:47387915-47397923	CALM2		Long QT syndrome 1	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 24242276.	NC_000002.11:g.(?_47388842)_(47403582_?)dup GRCh37: Chr2:47388842-47403582	CALM2		Long QT syndrome 1	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 24168487.	NM_005184.4(CALM3):c.35-19C>T GRCh37: Chr19:47111435 GRCh38: Chr19:46608178	CALM3		Long QT syndrome 1	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 24151048.	NM_005184.4(CALM3):c.35-9T>C GRCh37: Chr19:47111445 GRCh38: Chr19:46608188	CALM3		Long QT syndrome 1	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 24150259.	NM_005184.4(CALM3):c.192T>A (p.Ile64=) GRCh37: Chr19:47111752 GRCh38: Chr19:46608495	CALM3		Long QT syndrome 1	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 219754310.	NM_005184.4(CALM3):c.178+12A>G GRCh37: Chr19:47111609 GRCh38: Chr19:46608352	CALM3		Long QT syndrome 1	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 219539111.	NM_005184.4(CALM3):c.3+14G>C GRCh37: Chr19:47104708 GRCh38: Chr19:46601451	CALM3		Long QT syndrome 1	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 219162912.	NM_001743.6(CALM2):c.422-15C>T GRCh37: Chr2:47387958 GRCh38: Chr2:47160819	CALM2		Long QT syndrome 1	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 218874313.	NM_001743.6(CALM2):c.422-12C>T GRCh37: Chr2:47387955 GRCh38: Chr2:47160816	CALM2		Long QT syndrome 1	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 218275914.	NM_005184.4(CALM3):c.421+14A>G GRCh37: Chr19:47112252 GRCh38: Chr19:46608995	CALM3		Long QT syndrome 1	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 217754815.	NM_001743.6(CALM2):c.34+19G>T GRCh37: Chr2:47397854 GRCh38: Chr2:47170715	CALM2		Long QT syndrome 1	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 217588516.	NM_001743.6(CALM2):c.285+17A>T GRCh37: Chr2:47389408 GRCh38: Chr2:47162269	CALM2		Long QT syndrome 1	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 217188317.	NM_005184.4(CALM3):c.310G>A (p.Ala104Thr) GRCh37: Chr19:47112127 GRCh38: Chr19:46608870	CALM3	A104T, A68T	Long QT syndrome 1	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 216404718.	NM_001743.6(CALM2):c.178+7C>G GRCh37: Chr2:47389651 GRCh38: Chr2:47162512	CALM2		Long QT syndrome 1	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 215664019.	NM_005184.4(CALM3):c.286-4C>G GRCh37: Chr19:47112099 GRCh38: Chr19:46608842	CALM3		Long QT syndrome 1	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 215510220.	NM_005184.4(CALM3):c.422-5C>T GRCh37: Chr19:47112377 GRCh38: Chr19:46609120	CALM3		Long QT syndrome 1	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 215450021.	NM_001743.6(CALM2):c.285+9A>G GRCh37: Chr2:47389416 GRCh38: Chr2:47162277	CALM2		Long QT syndrome 1	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 215413022.	NM_001743.6(CALM2):c.3+13C>T GRCh37: Chr2:47403567 GRCh38: Chr2:47176428	CALM2		Long QT syndrome 1	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 215197223.	NM_005184.4(CALM3):c.35-18T>C GRCh37: Chr19:47111436 GRCh38: Chr19:46608179	CALM3		Long QT syndrome 1	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 214705924.	NM_005184.4(CALM3):c.421+6T>G GRCh37: Chr19:47112244 GRCh38: Chr19:46608987	CALM3		Long QT syndrome 1	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 214550325.	NM_001743.6(CALM2):c.421+19C>T GRCh37: Chr2:47388843 GRCh38: Chr2:47161704	CALM2		Long QT syndrome 1	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 214436326.	NM_005184.4(CALM3):c.179-13C>T GRCh37: Chr19:47111726 GRCh38: Chr19:46608469	CALM3		Long QT syndrome 1	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 214130727.	NM_001743.6(CALM2):c.3+18C>G GRCh37: Chr2:47403562 GRCh38: Chr2:47176423	CALM2		Long QT syndrome 1	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 213830828.	NM_005184.4(CALM3):c.426T>G (p.Phe142Leu) GRCh37: Chr19:47112386 GRCh38: Chr19:46609129	CALM3	F106L, F142L	Long QT syndrome 1	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 213663329.	NM_001743.6(CALM2):c.178+17G>A GRCh37: Chr2:47389641 GRCh38: Chr2:47162502	CALM2		Long QT syndrome 1	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 212910530.	NM_001743.6(CALM2):c.411A>G (p.Val137=) GRCh37: Chr2:47388872 GRCh38: Chr2:47161733	CALM2		Long QT syndrome 1	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 209354631.	NM_001743.6(CALM2):c.3+17G>C GRCh37: Chr2:47403563 GRCh38: Chr2:47176424	CALM2		Long QT syndrome 1	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 208679832.	NM_001743.6(CALM2):c.4-15T>C GRCh37: Chr2:47397918 GRCh38: Chr2:47170779	CALM2		Long QT syndrome 1	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208058233.	NM_001743.6(CALM2):c.3+9_3+18del GRCh37: Chr2:47403562-47403571 GRCh38: Chr2:47176423-47176432	CALM2		Long QT syndrome 1	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 208049234.	NM_005184.4(CALM3):c.285+17A>G GRCh37: Chr19:47111862 GRCh38: Chr19:46608605	CALM3		Long QT syndrome 1	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 207942235.	NM_001743.6(CALM2):c.179-15A>G GRCh37: Chr2:47389546 GRCh38: Chr2:47162407	CALM2		Long QT syndrome 1	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 207905236.	NM_005184.4(CALM3):c.27G>A (p.Gln9=) GRCh37: Chr19:47109107 GRCh38: Chr19:46605850	CALM3		Long QT syndrome 1, Cardiovascular phenotype	Likely benign (Nov 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204117037.	NM_005184.4(CALM3):c.108G>A (p.Val36=) GRCh37: Chr19:47111527 GRCh38: Chr19:46608270	CALM3		Long QT syndrome 1	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 203697038.	NM_001743.6(CALM2):c.422-12dup GRCh37: Chr2:47387954-47387955 GRCh38: Chr2:47160815-47160816	CALM2		Long QT syndrome 1	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 203093639.	NM_001743.6(CALM2):c.178+9T>A GRCh37: Chr2:47389649 GRCh38: Chr2:47162510	CALM2		Long QT syndrome 1	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 202677440.	NM_001743.6(CALM2):c.123G>C (p.Gly41=) GRCh37: Chr2:47389713 GRCh38: Chr2:47162574	CALM2		Long QT syndrome 1	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 202511641.	NM_001743.6(CALM2):c.54A>C (p.Ser18=) GRCh37: Chr2:47389782 GRCh38: Chr2:47162643	CALM2		Long QT syndrome 1	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 200821542.	NM_005184.4(CALM3):c.421+10G>T GRCh37: Chr19:47112248 GRCh38: Chr19:46608991	CALM3		Long QT syndrome 1	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 200640243.	NM_001743.6(CALM2):c.4-5T>C GRCh37: Chr2:47397908 GRCh38: Chr2:47170769	CALM2		Long QT syndrome 1	Likely benign (Nov 27, 2021)	criteria provided, single submitter
Select item 199829244.	NM_005184.4(CALM3):c.259C>T (p.Arg87Ter) GRCh37: Chr19:47111819 GRCh38: Chr19:46608562	CALM3	R87, R51	Long QT syndrome 1	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 199056945.	NM_005184.4(CALM3):c.75T>C (p.Asp25=) GRCh37: Chr19:47111494 GRCh38: Chr19:46608237	CALM3		Long QT syndrome 1	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 198889346.	NM_005184.4(CALM3):c.81T>C (p.Thr27=) GRCh37: Chr19:47111500 GRCh38: Chr19:46608243	CALM3		Long QT syndrome 1	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 198699747.	NM_005184.4(CALM3):c.165G>A (p.Glu55=) GRCh37: Chr19:47111584 GRCh38: Chr19:46608327	CALM3		Long QT syndrome 1	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 198462448.	NM_001743.6(CALM2):c.35-12T>C GRCh37: Chr2:47389813 GRCh38: Chr2:47162674	CALM2		Long QT syndrome 1	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 198165449.	NM_005184.4(CALM3):c.370G>A (p.Glu124Lys) GRCh37: Chr19:47112187 GRCh38: Chr19:46608930	CALM3	E124K, E88K	Long QT syndrome 1	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 195655350.	NM_005184.4(CALM3):c.35-14C>A GRCh37: Chr19:47111440 GRCh38: Chr19:46608183	CALM3		Long QT syndrome 1	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 191694351.	NM_001743.6(CALM2):c.286-14A>T GRCh37: Chr2:47389011 GRCh38: Chr2:47161872	CALM2		Long QT syndrome 1	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 190772952.	NM_001743.6(CALM2):c.3+12G>A GRCh37: Chr2:47403568 GRCh38: Chr2:47176429	CALM2		Long QT syndrome 1	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 176936253.	NM_005184.4(CALM3):c.12G>A (p.Gln4=) GRCh37: Chr19:47109092 GRCh38: Chr19:46605835	CALM3		Long QT syndrome 1, Cardiovascular phenotype	Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174053854.	NM_005184.4(CALM3):c.442G>A (p.Ala148Thr) GRCh37: Chr19:47112402 GRCh38: Chr19:46609145	CALM3	A112T, A148T	Cardiovascular phenotype, Long QT syndrome 1	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173099355.	NM_005184.4(CALM3):c.339G>C (p.Leu113=) GRCh37: Chr19:47112156 GRCh38: Chr19:46608899	CALM3		Long QT syndrome 1, Cardiovascular phenotype	Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172345356.	NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter) GRCh37: Chr11:2604711 GRCh38: Chr11:2583481	KCNQ1	W175, W196, W233, W323	Long QT syndrome 1	Pathogenic	no assertion criteria provided
Select item 171314357.	NM_000218.3(KCNQ1):c.386+6T>G GRCh37: Chr11:2466720 GRCh38: Chr11:2445490	KCNQ1		Long QT syndrome 1	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 171292158.	NC_000011.10:g.2276821_2491742del	KCNQ1		Beckwith-Wiedemann syndrome, Long QT syndrome 1	Pathogenic (Oct 24, 2022)	no assertion criteria provided
Select item 170904859.	NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs) GRCh37: Chr11:2591893-2591894 GRCh38: Chr11:2570663-2570664	KCNQ1	G179fs, G52fs	Long QT syndrome 1	Likely pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 170806560.	NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter) GRCh37: Chr11:2683256 GRCh38: Chr11:2662026	KCNQ1, KCNQ1OT1	E307, E360, E397, E455, E487*	Long QT syndrome 1	Likely pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 166138961.	NM_005184.4(CALM3):c.179-18C>T GRCh37: Chr19:47111721 GRCh38: Chr19:46608464	CALM3		Long QT syndrome 1	Likely benign (Mar 16, 2021)	criteria provided, single submitter
Select item 165258362.	NM_001743.6(CALM2):c.34+12_34+13delinsCT GRCh37: Chr2:47397860-47397861 GRCh38: Chr2:47170721-47170722	CALM2		Long QT syndrome 1	Likely benign (Apr 26, 2021)	criteria provided, single submitter
Select item 165092163.	NM_005184.4(CALM3):c.333G>C (p.Thr111=) GRCh37: Chr19:47112150 GRCh38: Chr19:46608893	CALM3		Long QT syndrome 1	Likely benign (Sep 29, 2021)	criteria provided, single submitter
Select item 165070664.	NM_005184.4(CALM3):c.72A>G (p.Gly24=) GRCh37: Chr19:47111491 GRCh38: Chr19:46608234	CALM3		Long QT syndrome 1	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 164990665.	NM_001743.6(CALM2):c.285+14_285+20del GRCh37: Chr2:47389405-47389411 GRCh38: Chr2:47162266-47162272	CALM2		Long QT syndrome 1	Likely benign (Oct 1, 2021)	criteria provided, single submitter
Select item 164718766.	NM_001743.6(CALM2):c.34+17T>C GRCh37: Chr2:47397856 GRCh38: Chr2:47170717	CALM2		Long QT syndrome 1	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 163183367.	NM_005184.4(CALM3):c.174A>G (p.Ala58=) GRCh37: Chr19:47111593 GRCh38: Chr19:46608336	CALM3		Long QT syndrome 1	Likely benign (Feb 7, 2021)	criteria provided, single submitter
Select item 162545968.	NM_000218.3(KCNQ1):c.1686-18C>G GRCh37: Chr11:2798198 GRCh38: Chr11:2776968	KCNQ1		Long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Long QT syndrome 1, Beckwith-Wiedemann syndrome, Short QT syndrome type 2	Likely benign (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162544069.	NM_005184.4(CALM3):c.447G>A (p.Lys149=) GRCh37: Chr19:47112407 GRCh38: Chr19:46609150	CALM3		Long QT syndrome 1	Likely benign (Mar 22, 2021)	criteria provided, single submitter
Select item 161863570.	NM_001743.6(CALM2):c.178+10del GRCh37: Chr2:47389648 GRCh38: Chr2:47162509	CALM2		Long QT syndrome 1	Likely benign (Nov 23, 2021)	criteria provided, single submitter
Select item 161831571.	NM_005184.4(CALM3):c.3+18dup GRCh37: Chr19:47104706-47104707 GRCh38: Chr19:46601449-46601450	CALM3		Long QT syndrome 1	Benign (Aug 13, 2022)	criteria provided, single submitter
Select item 161354272.	NM_005184.4(CALM3):c.387T>C (p.Ala129=) GRCh37: Chr19:47112204 GRCh38: Chr19:46608947	CALM3		Long QT syndrome 1	Likely benign (Apr 14, 2021)	criteria provided, single submitter
Select item 161300273.	NM_005184.4(CALM3):c.4-17C>G GRCh37: Chr19:47109067 GRCh38: Chr19:46605810	CALM3		Long QT syndrome 1	Likely benign (Jun 5, 2021)	criteria provided, single submitter
Select item 160766574.	NM_005184.4(CALM3):c.35-14C>G GRCh37: Chr19:47111440 GRCh38: Chr19:46608183	CALM3		Long QT syndrome 1	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 160636475.	NM_001743.6(CALM2):c.417T>C (p.Tyr139=) GRCh37: Chr2:47388866 GRCh38: Chr2:47161727	CALM2		Long QT syndrome 1	Likely benign (Aug 5, 2021)	criteria provided, single submitter
Select item 160347176.	NM_005184.4(CALM3):c.3+13G>A GRCh37: Chr19:47104707 GRCh38: Chr19:46601450	CALM3		Long QT syndrome 1	Likely benign (Sep 8, 2021)	criteria provided, single submitter
Select item 160213177.	NM_005184.4(CALM3):c.286-19C>G GRCh37: Chr19:47112084 GRCh38: Chr19:46608827	CALM3		Long QT syndrome 1	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 159840378.	NM_001743.6(CALM2):c.186C>A (p.Gly62=) GRCh37: Chr2:47389524 GRCh38: Chr2:47162385	CALM2		Long QT syndrome 1	Likely benign (Aug 28, 2021)	criteria provided, single submitter
Select item 159710879.	NM_005184.4(CALM3):c.402T>C (p.Asp134=) GRCh37: Chr19:47112219 GRCh38: Chr19:46608962	CALM3		Cardiovascular phenotype, Long QT syndrome 1	Likely benign (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159570080.	NM_005184.4(CALM3):c.3+18G>A GRCh37: Chr19:47104712 GRCh38: Chr19:46601455	CALM3		Long QT syndrome 1	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 159266881.	NM_005184.4(CALM3):c.34+7C>G GRCh37: Chr19:47109121 GRCh38: Chr19:46605864	CALM3		Long QT syndrome 1	Likely benign (Feb 11, 2021)	criteria provided, single submitter
Select item 158508182.	NM_001743.6(CALM2):c.178+12A>G GRCh37: Chr2:47389646 GRCh38: Chr2:47162507	CALM2		Long QT syndrome 1	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 157527983.	NM_001743.6(CALM2):c.422-13del GRCh37: Chr2:47387956 GRCh38: Chr2:47160817	CALM2		Long QT syndrome 1	Likely benign (Oct 8, 2021)	criteria provided, single submitter
Select item 157384084.	NM_001743.6(CALM2):c.179-15A>T GRCh37: Chr2:47389546 GRCh38: Chr2:47162407	CALM2		Long QT syndrome 1	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 156224685.	NM_005184.4(CALM3):c.178+19G>A GRCh37: Chr19:47111616 GRCh38: Chr19:46608359	CALM3		Long QT syndrome 1	Benign (Jul 14, 2022)	criteria provided, single submitter
Select item 155293886.	NM_005184.4(CALM3):c.429A>G (p.Val143=) GRCh37: Chr19:47112389 GRCh38: Chr19:46609132	CALM3		Long QT syndrome 1	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 154876487.	NM_001743.6(CALM2):c.4-8dup GRCh37: Chr2:47397910-47397911 GRCh38: Chr2:47170771-47170772	CALM2		Long QT syndrome 1	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 153874388.	NM_005184.4(CALM3):c.422-8C>T GRCh37: Chr19:47112374 GRCh38: Chr19:46609117	CALM3		Long QT syndrome 1	Likely benign (Dec 1, 2020)	criteria provided, single submitter
Select item 152920789.	NM_001743.6(CALM2):c.35-15C>G GRCh37: Chr2:47389816 GRCh38: Chr2:47162677	CALM2		Long QT syndrome 1	Likely benign (Nov 9, 2021)	criteria provided, single submitter
Select item 151981590.	NM_005184.4(CALM3):c.237C>T (p.Asp79=) GRCh37: Chr19:47111797 GRCh38: Chr19:46608540	CALM3		Cardiovascular phenotype, Long QT syndrome 1	Likely benign (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149917891.	NM_005184.4(CALM3):c.66G>A (p.Lys22=) GRCh37: Chr19:47111485 GRCh38: Chr19:46608228	CALM3		Long QT syndrome 1	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 148397792.	NM_005184.4(CALM3):c.24G>C (p.Glu8Asp) GRCh37: Chr19:47109104 GRCh38: Chr19:46605847	CALM3	E8D	Long QT syndrome 1	Uncertain significance (Aug 17, 2021)	criteria provided, single submitter
Select item 148280193.	NM_005184.4(CALM3):c.394G>A (p.Asp132Asn) GRCh37: Chr19:47112211 GRCh38: Chr19:46608954	CALM3	D96N, D132N	Long QT syndrome 1, Cardiovascular phenotype	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 146772294.	NM_001743.6(CALM2):c.423G>C (p.Glu141Asp) GRCh37: Chr2:47387942 GRCh38: Chr2:47160803	CALM2	E105D, E189D, E141D	Long QT syndrome 1	Likely pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 145626095.	NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr) GRCh37: Chr2:47388889 GRCh38: Chr2:47161750	CALM2	D180Y, D96Y, D132Y	Long QT syndrome 1	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 144836596.	NC_000019.9:g.(?_47109064)_(47112410_?)dup GRCh37: Chr19:47109064-47112410	CALM3		Long QT syndrome 1	Uncertain significance (Apr 27, 2021)	criteria provided, single submitter
Select item 144354897.	NM_000218.3(KCNQ1):c.1501A>G (p.Thr501Ala) GRCh37: Chr11:2683298 GRCh38: Chr11:2662068	KCNQ1, KCNQ1OT1	T501A, T374A, T469A, T411A, T321A	Long QT syndrome, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143853198.	NM_005184.4(CALM3):c.4-3C>T GRCh37: Chr19:47109081 GRCh38: Chr19:46605824	CALM3		Long QT syndrome 1	Uncertain significance (Sep 19, 2021)	criteria provided, single submitter
Select item 143542999.	NM_005184.4(CALM3):c.3+11C>T GRCh37: Chr19:47104705 GRCh38: Chr19:46601448	CALM3		Long QT syndrome 1	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 1423641100.	NM_001743.6(CALM2):c.35-10_35-7del GRCh37: Chr2:47389808-47389811 GRCh38: Chr2:47162669-47162672	CALM2		Long QT syndrome 1	Likely benign (Aug 4, 2022)	criteria provided, single submitter

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