ClinVar for MedGen (Select 44193) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24293791.	NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs) GRCh37: Chr7:150644017-150644018 GRCh38: Chr7:150946929-150946930	KCNH2	P1093fs, P753fs	Long QT syndrome	Pathogenic	no assertion criteria provided
Select item 24284582.	NM_000719.7(CACNA1C):c.3946-13C>G GRCh37: Chr12:2760793 GRCh38: Chr12:2651627	CACNA1C		Long QT syndrome	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 24282833.	NM_005751.5(AKAP9):c.4758G>A (p.Gln1586=) GRCh37: Chr7:91670053 GRCh38: Chr7:92040739	AKAP9		Long QT syndrome	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 24281874.	NM_000719.7(CACNA1C):c.3376G>A (p.Asp1126Asn) GRCh37: Chr12:2717696 GRCh38: Chr12:2608530	CACNA1C	D1123N, D1126N, D1146N	Long QT syndrome	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 24254165.	NC_000007.13:g.(?_91621452)_(91646436_?)dup GRCh37: Chr7:91621452-91646436	AKAP9		Long QT syndrome	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 24254146.	NC_000007.13:g.(?_91621452)_(91625134_?)del GRCh37: Chr7:91621452-91625134	AKAP9		Long QT syndrome	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 24254137.	NC_000007.13:g.(?_91603005)_(91609667_?)del GRCh37: Chr7:91603005-91609667	AKAP9		Long QT syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 24254128.	NC_000007.13:g.(?_91651532)_(91691820_?)del GRCh37: Chr7:91651532-91691820	AKAP9		Long QT syndrome	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 24254119.	NC_000007.13:g.(?_91731888)_(91732160_?)del GRCh37: Chr7:91731888-91732160	AKAP9		Long QT syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 242462510.	NC_000020.10:g.(?_31996313)_(32026852_?)dup GRCh37: Chr20:31996313-32026852	SNTA1		Long QT syndrome	Uncertain significance (Oct 23, 2021)	criteria provided, single submitter
Select item 242337411.	NC_000012.11:g.(?_2558122)_(2800365_?)dup GRCh37: Chr12:2558122-2800365	CACNA1C		Long QT syndrome	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 242337312.	NC_000012.11:g.(?_2795312)_(2800365_?)dup GRCh37: Chr12:2795312-2800365	CACNA1C		Long QT syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 242337213.	NC_000012.11:g.(?_2794882)_(2795455_?)dup GRCh37: Chr12:2794882-2795455	CACNA1C		Long QT syndrome	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 242337114.	NC_000012.11:g.(?_2690736)_(2800365_?)dup GRCh37: Chr12:2690736-2800365	CACNA1C		Long QT syndrome	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 242337015.	NC_000012.11:g.(?_2016586)_(2558301_?)dup GRCh37: Chr12:2016586-2558301	CACNA1C, CACNA2D4, DCP1B		Long QT syndrome	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 242336916.	NC_000012.11:g.(?_1949885)_(2764424_?)dup GRCh37: Chr12:1949885-2764424	CACNA1C, CACNA2D4, DCP1B		Long QT syndrome	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 242336817.	NC_000012.11:g.(?_2162729)_(2800365_?)del GRCh37: Chr12:2162729-2800365	CACNA1C		Long QT syndrome	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 242262318.	NC_000007.13:g.(?_150642453)_(150675001_?)dup GRCh37: Chr7:150642453-150675001	KCNH2		Long QT syndrome	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 242262219.	NC_000007.13:g.(?_150654359)_(150657201_?)del GRCh37: Chr7:150654359-150657201	KCNH2		Long QT syndrome	Pathogenic (Oct 3, 2021)	criteria provided, single submitter
Select item 242262120.	NC_000007.13:g.(?_150642453)_(150675001_?)del GRCh37: Chr7:150642453-150675001	KCNH2		Long QT syndrome	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 242260221.	NC_000011.9:g.(?_2591838)_(2610104_?)dup GRCh37: Chr11:2591838-2610104	KCNQ1		Long QT syndrome	Likely pathogenic (Mar 19, 2022)	criteria provided, single submitter
Select item 242260122.	NC_000011.9:g.(?_2549148)_(2683321_?)dup GRCh37: Chr11:2549148-2683321	KCNQ1, KCNQ1OT1		Long QT syndrome	Uncertain significance (Mar 12, 2020)	criteria provided, single submitter
Select item 242260023.	NC_000011.9:g.(?_2549138)_(2610104_?)dup GRCh37: Chr11:2549138-2610104	KCNQ1		Long QT syndrome	Likely pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 242259924.	NC_000011.9:g.(?_2790054)_(2799287_?)dup GRCh37: Chr11:2790054-2799287	KCNQ1		Long QT syndrome	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 242259825.	NC_000011.9:g.(?_2629548)_(2721238_?)dup GRCh37: Chr11:2629548-2721238	KCNQ1, KCNQ1OT1		Long QT syndrome	Likely pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 242259726.	NC_000011.9:g.(?_2591838)_(2610104_?)del GRCh37: Chr11:2591838-2610104	KCNQ1		Long QT syndrome	Pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 242259627.	NC_000011.9:g.(?_2799186)_(2799287_?)del GRCh37: Chr11:2799186-2799287	KCNQ1		Long QT syndrome	Pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 242259528.	NC_000011.9:g.(?_2466329)_(2466734_?)del GRCh37: Chr11:2466329-2466734	KCNQ1		Long QT syndrome	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 242259429.	NC_000011.9:g.(?_2466329)_(2869233_?)del GRCh37: Chr11:2466329-2869233	KCNQ1, KCNQ1OT1		Long QT syndrome	Pathogenic (Nov 28, 2021)	criteria provided, single submitter
Select item 242180930.	NM_001148.6(ANK2):c.4372-18G>A GRCh37: Chr4:114269414 GRCh38: Chr4:113348258	ANK2		Long QT syndrome	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 242160431.	NM_000890.5(KCNJ5):c.343C>T (p.Arg115Trp) GRCh37: Chr11:128781511 GRCh38: Chr11:128911616	KCNJ5	R115W	Long QT syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 242152832.	NM_005751.5(AKAP9):c.48+20C>T GRCh37: Chr7:91570481 GRCh38: Chr7:91941167	AKAP9		Long QT syndrome	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 242139933.	NM_000719.7(CACNA1C):c.256T>C (p.Tyr86His) GRCh37: Chr12:2224596 GRCh38: Chr12:2115430	CACNA1C	Y86H	Long QT syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 242126234.	NM_000719.7(CACNA1C):c.1114-421C>T GRCh37: Chr12:2613587 GRCh38: Chr12:2504421	CACNA1C		Long QT syndrome	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 242093735.	NM_001148.6(ANK2):c.42G>T (p.Glu14Asp) GRCh37: Chr4:113970926 GRCh38: Chr4:113049770	ANK2	E14D	Long QT syndrome	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 242052736.	NM_000218.3(KCNQ1):c.64G>T (p.Gly22Cys) GRCh37: Chr11:2466392 GRCh38: Chr11:2445162	KCNQ1	G22C	Long QT syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 242032237.	NM_000218.3(KCNQ1):c.1952A>C (p.Glu651Ala) GRCh37: Chr11:2869154 GRCh38: Chr11:2847924	KCNQ1, KCNQ1-AS1	E155A, E471A, E524A, E561A, E619A, E651A	Long QT syndrome	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 242009838.	NM_001148.6(ANK2):c.4372-12T>C GRCh37: Chr4:114269420 GRCh38: Chr4:113348264	ANK2		Long QT syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 241973839.	NM_005751.5(AKAP9):c.4882G>A (p.Glu1628Lys) GRCh37: Chr7:91670177 GRCh38: Chr7:92040863	AKAP9	E1628K	Long QT syndrome	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 241893140.	NM_000238.4(KCNH2):c.676G>C (p.Gly226Arg) GRCh37: Chr7:150655387 GRCh38: Chr7:150958299	KCNH2	G126R, G130R, G167R, G226R	Long QT syndrome	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 241891941.	NM_000719.7(CACNA1C):c.5295C>T (p.Ala1765=) GRCh37: Chr12:2788813 GRCh38: Chr12:2679647	CACNA1C, CACNA1C-AS1		Long QT syndrome	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 241878842.	NM_001148.6(ANK2):c.6668C>T (p.Pro2223Leu) GRCh37: Chr4:114276442 GRCh38: Chr4:113355286	ANK2	P1023L, P2145L, P2223L, P2262L, P2270L	Long QT syndrome	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 241874843.	NM_000238.4(KCNH2):c.2430C>T (p.Asn810=) GRCh37: Chr7:150646106 GRCh38: Chr7:150949018	KCNH2		Long QT syndrome	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 241872444.	NM_000890.5(KCNJ5):c.144G>A (p.Lys48=) GRCh37: Chr11:128781312 GRCh38: Chr11:128911417	KCNJ5		Long QT syndrome	Benign (May 25, 2022)	criteria provided, single submitter
Select item 241872245.	NM_000719.7(CACNA1C):c.6369G>T (p.Pro2123=) GRCh37: Chr12:2800317 GRCh38: Chr12:2691151	CACNA1C, CACNA1C-AS1		Long QT syndrome	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 241868646.	NM_000719.7(CACNA1C):c.4479C>T (p.His1493=) GRCh37: Chr12:2774827 GRCh38: Chr12:2665661	CACNA1C		Cardiovascular phenotype, Long QT syndrome	Likely benign (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241867647.	NM_000719.7(CACNA1C):c.6319C>T (p.Arg2107Ter) GRCh37: Chr12:2800267 GRCh38: Chr12:2691101	CACNA1C, CACNA1C-AS1	R2096, R2104, R2107, R2113, R2115, R2124, R2126, R2127, R2135, R2142, R2148, R2155, R2167, R2190	Long QT syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 241867448.	NM_000218.3(KCNQ1):c.1032+16G>A GRCh37: Chr11:2604791 GRCh38: Chr11:2583561	KCNQ1		Long QT syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 241863449.	NM_033337.3(CAV3):c.163G>A (p.Asp55Asn) GRCh37: Chr3:8787260 GRCh38: Chr3:8745574	OXTR, CAV3	D55N	Long QT syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 241846750.	NM_000719.7(CACNA1C):c.6325G>A (p.Gly2109Arg) GRCh37: Chr12:2800273 GRCh38: Chr12:2691107	CACNA1C, CACNA1C-AS1	G2098R, G2106R, G2109R, G2115R, G2117R, G2126R, G2128R, G2129R, G2137R, G2144R, G2150R, G2157R, G2169R, G2192R	not provided, Long QT syndrome	Uncertain significance (Mar 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241807351.	NM_000719.7(CACNA1C):c.3156+5A>G GRCh37: Chr12:2714957 GRCh38: Chr12:2605791	CACNA1C		Long QT syndrome	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 241771652.	NM_005751.5(AKAP9):c.733-17T>C GRCh37: Chr7:91624900 GRCh38: Chr7:91995586	AKAP9		Long QT syndrome	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 241751253.	NM_005751.5(AKAP9):c.4897C>T (p.Leu1633Phe) GRCh37: Chr7:91670192 GRCh38: Chr7:92040878	AKAP9	L1633F	Long QT syndrome	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 241716054.	NM_005751.5(AKAP9):c.3826C>T (p.Arg1276Ter) GRCh37: Chr7:91646405 GRCh38: Chr7:92017091	AKAP9	R1276*	Long QT syndrome	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 241698955.	NM_000890.5(KCNJ5):c.445A>G (p.Thr149Ala) GRCh37: Chr11:128781613 GRCh38: Chr11:128911718	KCNJ5	T149A	Long QT syndrome	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 241679956.	NM_000719.7(CACNA1C):c.2224+19C>T GRCh37: Chr12:2692127 GRCh38: Chr12:2582961	CACNA1C		Long QT syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 241645257.	NM_005751.5(AKAP9):c.10978T>C (p.Leu3660=) GRCh37: Chr7:91730251 GRCh38: Chr7:92100937	AKAP9		Long QT syndrome	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 241631758.	NM_005751.5(AKAP9):c.5162+5A>G GRCh37: Chr7:91672090 GRCh38: Chr7:92042776	AKAP9		Long QT syndrome, Cardiovascular phenotype	Uncertain significance (Feb 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241611459.	NM_000719.7(CACNA1C):c.2664G>T (p.Arg888Ser) GRCh37: Chr12:2705040 GRCh38: Chr12:2595874	CACNA1C	R885S, R888S	Long QT syndrome	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 241592160.	NM_000890.5(KCNJ5):c.96T>A (p.Tyr32Ter) GRCh37: Chr11:128781264 GRCh38: Chr11:128911369	KCNJ5	Y32*	Long QT syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 241586061.	NM_000238.4(KCNH2):c.2468G>T (p.Arg823Leu) GRCh37: Chr7:150646068 GRCh38: Chr7:150948980	KCNH2	R483L, R727L, R823L	Long QT syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 241564662.	NM_000218.3(KCNQ1):c.21G>A (p.Pro7=) GRCh37: Chr11:2466349 GRCh38: Chr11:2445119	KCNQ1		Long QT syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 241409263.	NM_000719.7(CACNA1C):c.563A>G (p.Asn188Ser) GRCh37: Chr12:2558227 GRCh38: Chr12:2449061	CACNA1C	N188S	Long QT syndrome	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 241342664.	NM_000218.3(KCNQ1):c.682A>T (p.Arg228Trp) GRCh37: Chr11:2592632 GRCh38: Chr11:2571402	KCNQ1	R101W, R138W, R228W	Long QT syndrome	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 220363965.	NM_001148.6(ANK2):c.793-13T>G GRCh37: Chr4:114163254 GRCh38: Chr4:113242098	ANK2		Long QT syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 220247966.	NM_000890.5(KCNJ5):c.123C>T (p.Arg41=) GRCh37: Chr11:128781291 GRCh38: Chr11:128911396	KCNJ5		Long QT syndrome	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 220234167.	NM_000218.3(KCNQ1):c.1032+20G>A GRCh37: Chr11:2604795 GRCh38: Chr11:2583565	KCNQ1		Long QT syndrome	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 220227368.	NM_005751.5(AKAP9):c.5252G>A (p.Arg1751His) GRCh37: Chr7:91674411 GRCh38: Chr7:92045097	AKAP9	R1751H	Long QT syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 220217969.	NM_000719.7(CACNA1C):c.6394A>C (p.Arg2132=) GRCh37: Chr12:2800342 GRCh38: Chr12:2691176	CACNA1C		Long QT syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 220208970.	NM_000719.7(CACNA1C):c.5371G>A (p.Val1791Met) GRCh37: Chr12:2788889 GRCh38: Chr12:2679723	CACNA1C, CACNA1C-AS1	V1780M, V1799M, V1797M, V1810M, V1839M, V1788M, V1819M, V1791M, V1808M, V1811M, V1832M	Long QT syndrome	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 220180871.	NM_001148.6(ANK2):c.9706C>T (p.Leu3236Phe) GRCh37: Chr4:114279480 GRCh38: Chr4:113358324	ANK2	L3275F, L2036F, L3158F, L3236F, L3283F	Long QT syndrome	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 220154072.	NM_000719.7(CACNA1C):c.4726+13G>T GRCh37: Chr12:2778214 GRCh38: Chr12:2669048	CACNA1C, CACNA1C-AS2		Long QT syndrome	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 220129373.	NM_001148.6(ANK2):c.670-12_670-10del GRCh37: Chr4:114158739-114158741 GRCh38: Chr4:113237583-113237585	ANK2		Long QT syndrome	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 220088174.	NM_001148.6(ANK2):c.7616A>G (p.Asp2539Gly) GRCh37: Chr4:114277390 GRCh38: Chr4:113356234	ANK2, LOC126807137	D1339G, D2461G, D2586G, D2539G, D2578G	Long QT syndrome	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 220041875.	NM_000218.3(KCNQ1):c.1893C>A (p.Pro631=) GRCh37: Chr11:2869095 GRCh38: Chr11:2847865	KCNQ1, KCNQ1-AS1		Long QT syndrome	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 220029776.	NM_000238.4(KCNH2):c.307+13C>T GRCh37: Chr7:150671786 GRCh38: Chr7:150974698	KCNH2		Long QT syndrome	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 220011777.	NM_005751.5(AKAP9):c.323C>T (p.Ser108Leu) GRCh37: Chr7:91609619 GRCh38: Chr7:91980305	AKAP9	S108L	Long QT syndrome	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 220002878.	NM_000719.7(CACNA1C):c.2751G>T (p.Leu917=) GRCh37: Chr12:2705127 GRCh38: Chr12:2595961	CACNA1C		Long QT syndrome	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 220001979.	NM_000238.4(KCNH2):c.3196C>T (p.Leu1066=) GRCh37: Chr7:150644099 GRCh38: Chr7:150947011	KCNH2		Long QT syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 219980780.	NM_005751.5(AKAP9):c.6210+18G>A GRCh37: Chr7:91694795 GRCh38: Chr7:92065481	AKAP9		Long QT syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219950481.	NM_005751.5(AKAP9):c.11226G>A (p.Arg3742=) GRCh37: Chr7:91732036 GRCh38: Chr7:92102722	AKAP9		Long QT syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 219945182.	NM_005751.5(AKAP9):c.10897-12T>C GRCh37: Chr7:91730158 GRCh38: Chr7:92100844	AKAP9		Long QT syndrome	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 219926283.	NM_000238.4(KCNH2):c.2776C>T (p.Pro926Ser) GRCh37: Chr7:150644883 GRCh38: Chr7:150947795	KCNH2	P586S, P830S, P926S	Long QT syndrome	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 219856684.	NM_000719.7(CACNA1C):c.2484C>T (p.Pro828=) GRCh37: Chr12:2695024 GRCh38: Chr12:2585858	CACNA1C		Long QT syndrome	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 219842185.	NM_033337.3(CAV3):c.250C>G (p.Leu84Val) GRCh37: Chr3:8787347 GRCh38: Chr3:8745661	CAV3, OXTR	L84V	Long QT syndrome	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 219814386.	NM_000218.3(KCNQ1):c.210C>T (p.Pro70=) GRCh37: Chr11:2466538 GRCh38: Chr11:2445308	KCNQ1		Long QT syndrome	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 219799287.	NM_005751.5(AKAP9):c.9359-6G>A GRCh37: Chr7:91722405 GRCh38: Chr7:92093091	AKAP9		Long QT syndrome	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 219798288.	NM_005751.5(AKAP9):c.3808C>T (p.Leu1270Phe) GRCh37: Chr7:91646387 GRCh38: Chr7:92017073	AKAP9	L1270F	Inborn genetic diseases, Long QT syndrome	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219785589.	NM_005751.5(AKAP9):c.931-8dup GRCh37: Chr7:91630146-91630147 GRCh38: Chr7:92000832-92000833	AKAP9		Long QT syndrome	Benign (May 2, 2022)	criteria provided, single submitter
Select item 219736890.	NM_000238.4(KCNH2):c.3024G>A (p.Gln1008=) GRCh37: Chr7:150644544 GRCh38: Chr7:150947456	KCNH2		Long QT syndrome	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 219734191.	NM_000238.4(KCNH2):c.562_570del (p.Ala188_Ala190del) GRCh37: Chr7:150655493-150655501 GRCh38: Chr7:150958405-150958413	KCNH2		Long QT syndrome	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 219713892.	NM_005751.5(AKAP9):c.3751+17A>G GRCh37: Chr7:91645598 GRCh38: Chr7:92016284	AKAP9		Long QT syndrome	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 219699993.	NM_001148.6(ANK2):c.5666G>A (p.Arg1889Lys) GRCh37: Chr4:114275440 GRCh38: Chr4:113354284	ANK2, LOC126807136	R1811K, R1936K, R1889K, R1928K, R689K	Long QT syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219641594.	NM_000218.3(KCNQ1):c.855G>A (p.Lys285=) GRCh37: Chr11:2594150 GRCh38: Chr11:2572920	KCNQ1		Long QT syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 219632195.	NM_001148.6(ANK2):c.11110G>A (p.Glu3704Lys) GRCh37: Chr4:114288799 GRCh38: Chr4:113367643	ANK2	E1458K, E1519K, E1561K, E1567K, E1574K, E1597K, E1598K, E1612K, E2504K, E3704K, E1532K, E1546K, E1548K, E1553K, E1585K, E1610K, E1619K, E1623K, E1634K, E1638K, E3626K, E3743K, E795K, E1541K, E1544K, E1557K, E1564K, E1565K, E1576K, E1586K, E1602K, E1609K, E1633K, E1645K, E3751K, E1491K, E1524K, E1572K, E1614K, E1618K, E1631K, E419K, E802K, E807K	Long QT syndrome	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 219611196.	NM_001148.6(ANK2):c.1776A>G (p.Ala592=) GRCh37: Chr4:114199085 GRCh38: Chr4:113277929	ANK2		Long QT syndrome	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 219610497.	NM_005751.5(AKAP9):c.8150A>G (p.Glu2717Gly) GRCh37: Chr7:91711966 GRCh38: Chr7:92082652	AKAP9	E2717G, E932G, E2709G	Long QT syndrome	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 219607798.	NM_005751.5(AKAP9):c.8581G>A (p.Val2861Ile) GRCh37: Chr7:91712904 GRCh38: Chr7:92083590	AKAP9	V2853I, V2861I, V1076I	Long QT syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 219602899.	NM_001148.6(ANK2):c.2165A>G (p.Asp722Gly) GRCh37: Chr4:114208846 GRCh38: Chr4:113287690	ANK2	D660G, D689G, D722G, D737G, D627G, D693G, D708G, D656G, D668G, D731G, D739G, D594G, D652G, D701G, D710G, D718G	Long QT syndrome	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 2195966100.	NM_005751.5(AKAP9):c.10793A>G (p.His3598Arg) GRCh37: Chr7:91729080 GRCh38: Chr7:92099766	AKAP9	H1813R, H3590R, H3598R	Long QT syndrome	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter

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