ClinVar for MedGen (Select 685787) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16989661.	NM_000238.4(KCNH2):c.1819del (p.Ile607fs) GRCh37: Chr7:150648662 GRCh38: Chr7:150951574	KCNH2	I267fs, I607fs	Congenital long QT syndrome	Pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 11599552.	NM_005184.4(CALM3):c.147G>T (p.Leu49=) GRCh37: Chr19:47111566 GRCh38: Chr19:46608309	CALM3		Long QT syndrome 1	Likely benign (Sep 19, 2019)	criteria provided, single submitter
Select item 11598903.	NM_005184.4(CALM3):c.138A>G (p.Glu46=) GRCh37: Chr19:47111557 GRCh38: Chr19:46608300	CALM3		Long QT syndrome 1	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 11550054.	NM_005184.4(CALM3):c.286-10C>G GRCh37: Chr19:47112093 GRCh38: Chr19:46608836	CALM3		Long QT syndrome 1	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 11519335.	NM_005184.4(CALM3):c.286-8dup GRCh37: Chr19:47112093-47112094 GRCh38: Chr19:46608836-46608837	CALM3		Long QT syndrome 1	Likely benign (Nov 20, 2019)	criteria provided, single submitter
Select item 11458836.	NM_001743.6(CALM2):c.63C>T (p.Asp21=) GRCh37: Chr2:47389773 GRCh38: Chr2:47162634	CALM2		Long QT syndrome 1	Likely benign (Sep 10, 2019)	criteria provided, single submitter
Select item 11360437.	NM_001743.6(CALM2):c.336C>T (p.Asn112=) GRCh37: Chr2:47388947 GRCh38: Chr2:47161808	CALM2		Cardiovascular phenotype, Long QT syndrome 1	Likely benign (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11324018.	NM_001743.6(CALM2):c.57A>G (p.Leu19=) GRCh37: Chr2:47389779 GRCh38: Chr2:47162640	CALM2		Long QT syndrome 1	Likely benign (Oct 28, 2020)	criteria provided, single submitter
Select item 11260889.	NM_001743.6(CALM2):c.261A>G (p.Arg87=) GRCh37: Chr2:47389449 GRCh38: Chr2:47162310	CALM2		Long QT syndrome 1	Likely benign (Nov 10, 2019)	criteria provided, single submitter
Select item 112120510.	NM_001743.6(CALM2):c.429A>G (p.Val143=) GRCh37: Chr2:47387936 GRCh38: Chr2:47160797	CALM2		Long QT syndrome 1	Likely benign (Jun 30, 2020)	criteria provided, single submitter
Select item 110666111.	NM_001743.6(CALM2):c.179-29_179-10del GRCh37: Chr2:47389541-47389560 GRCh38: Chr2:47162402-47162421	CALM2		Long QT syndrome 1	Likely benign (Aug 30, 2019)	criteria provided, single submitter
Select item 110193012.	NM_001743.6(CALM2):c.165A>G (p.Glu55=) GRCh37: Chr2:47389671 GRCh38: Chr2:47162532	CALM2		Cardiovascular phenotype, Long QT syndrome 1	Likely benign (Jun 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 109764713.	NM_005184.4(CALM3):c.273T>A (p.Arg91=) GRCh37: Chr19:47111833 GRCh38: Chr19:46608576	CALM3		Cardiovascular phenotype, Long QT syndrome 1	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108775714.	NM_005184.4(CALM3):c.366G>A (p.Val122=) GRCh37: Chr19:47112183 GRCh38: Chr19:46608926	CALM3		Cardiovascular phenotype, Long QT syndrome 1	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108770315.	NM_005184.4(CALM3):c.444A>T (p.Ala148=) GRCh37: Chr19:47112404 GRCh38: Chr19:46609147	CALM3		Cardiovascular phenotype, Long QT syndrome 1	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108160016.	NM_005184.4(CALM3):c.4-5T>C GRCh37: Chr19:47109079 GRCh38: Chr19:46605822	CALM3		Long QT syndrome 1	Likely benign (Mar 4, 2019)	criteria provided, single submitter
Select item 106714017.	NM_001743.6(CALM2):c.397G>A (p.Gly133Ser) GRCh37: Chr2:47388886 GRCh38: Chr2:47161747	CALM2	G133S, G181S, G97S	Long QT syndrome 1	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 105841918.	NM_001743.6(CALM2):c.33A>G (p.Ala11=) GRCh37: Chr2:47397874 GRCh38: Chr2:47170735	CALM2		Long QT syndrome 1	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 104700019.	NM_005184.4(CALM3):c.395A>T (p.Asp132Val) GRCh37: Chr19:47112212 GRCh38: Chr19:46608955	CALM3	D132V, D96V	Long QT syndrome 1	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 104375220.	NM_001743.6(CALM2):c.421+3A>G GRCh37: Chr2:47388859 GRCh38: Chr2:47161720	CALM2		Long QT syndrome 1	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 103560721.	NM_001743.6(CALM2):c.203A>C (p.Glu68Ala) GRCh37: Chr2:47389507 GRCh38: Chr2:47162368	CALM2	E116A, E68A, E32A	Long QT syndrome 1	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 102552222.	NM_005184.4(CALM3):c.34+3G>A GRCh37: Chr19:47109117 GRCh38: Chr19:46605860	CALM3		Cardiovascular phenotype, Long QT syndrome 1	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100293923.	NM_001743.6(CALM2):c.413_416dup (p.Tyr139Ter) GRCh37: Chr2:47388866-47388867 GRCh38: Chr2:47161727-47161728	CALM2	Y103, Y139, Y187*	Long QT syndrome 1	Uncertain significance (May 11, 2020)	criteria provided, single submitter
Select item 97044524.	NM_001743.6(CALM2):c.104C>T (p.Thr35Ile) GRCh37: Chr2:47389732 GRCh38: Chr2:47162593	CALM2	T35I, T83I	Cardiovascular phenotype, not provided, Long QT syndrome 1	Uncertain significance (Jul 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96520325.	NM_005184.4(CALM3):c.422-3_422-2del GRCh37: Chr19:47112377-47112378 GRCh38: Chr19:46609120-46609121	CALM3		Long QT syndrome 1	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 95609326.	NM_001743.6(CALM2):c.319C>T (p.Arg107Cys) GRCh37: Chr2:47388964 GRCh38: Chr2:47161825	CALM2	R107C, R71C, R155C	Long QT syndrome 1, Cardiovascular phenotype	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95553327.	NM_001743.6(CALM2):c.395A>G (p.Asp132Gly) GRCh37: Chr2:47388888 GRCh38: Chr2:47161749	CALM2	D132G, D96G, D180G	Long QT syndrome 1	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 94674428.	NM_001743.6(CALM2):c.285+5G>A GRCh37: Chr2:47389420 GRCh38: Chr2:47162281	CALM2		Cardiovascular phenotype, Long QT syndrome 1	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92575129.	NM_001099404.2(SCN5A):c.647C>T (p.Ser216Leu) GRCh37: Chr3:38655522 GRCh38: Chr3:38614031	SCN5A	S216L	Congenital long QT syndrome, Cardiac arrhythmia	Benign/Likely benign (Mar 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85415630.	NM_001743.6(CALM2):c.247G>A (p.Glu83Lys) GRCh37: Chr2:47389463 GRCh38: Chr2:47162324	CALM2	E83K, E47K, E131K	Long QT syndrome 1	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 83963131.	NM_005184.4(CALM3):c.179-3del GRCh37: Chr19:47111735 GRCh38: Chr19:46608478	CALM3		Long QT syndrome 16, Long QT syndrome 1	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81271032.	NM_001743.6(CALM2):c.389A>G (p.Asp130Gly) GRCh37: Chr2:47388894 GRCh38: Chr2:47161755	CALM2	D130G, D178G, D94G	Long QT syndrome 1	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 79969633.	NM_005184.4(CALM3):c.144G>A (p.Glu48=) GRCh37: Chr19:47111563 GRCh38: Chr19:46608306	CALM3		Long QT syndrome 1	Likely benign (Apr 16, 2021)	criteria provided, single submitter
Select item 75930134.	NM_001743.6(CALM2):c.123G>A (p.Gly41=) GRCh37: Chr2:47389713 GRCh38: Chr2:47162574	CALM2		Long QT syndrome 1	Likely benign (Apr 28, 2018)	criteria provided, single submitter
Select item 75698035.	NM_001743.6(CALM2):c.3+9A>C GRCh37: Chr2:47403571 GRCh38: Chr2:47176432	CALM2		Long QT syndrome 1	Likely benign (Apr 11, 2021)	criteria provided, single submitter
Select item 69576936.	NM_005184.4(CALM3):c.35-10C>T GRCh37: Chr19:47111444 GRCh38: Chr19:46608187	CALM3		Long QT syndrome 1	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 66740837.	NM_000238.4(KCNH2):c.1983del (p.Ile662fs) GRCh37: Chr7:150648171 GRCh38: Chr7:150951083	KCNH2	I322fs, I662fs	Congenital long QT syndrome, Long QT syndrome	Pathogenic/Likely pathogenic (Apr 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66700738.	NM_000218.3(KCNQ1):c.1685+2T>G GRCh37: Chr11:2797286 GRCh38: Chr11:2776056	KCNQ1		Congenital long QT syndrome	Likely pathogenic (Oct 21, 2018)	criteria provided, single submitter
Select item 66697539.	NM_000218.3(KCNQ1):c.1591-1G>A GRCh37: Chr11:2797189 GRCh38: Chr11:2775959	KCNQ1		Congenital long QT syndrome, Long QT syndrome	Pathogenic/Likely pathogenic (Aug 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 65957040.	NM_005184.4(CALM3):c.47C>G (p.Ala16Gly) GRCh37: Chr19:47111466 GRCh38: Chr19:46608209	CALM3	A16G	Long QT syndrome 1	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 65535041.	NM_005184.4(CALM3):c.319C>T (p.Arg107Cys) GRCh37: Chr19:47112136 GRCh38: Chr19:46608879	CALM3	R107C, R71C	Long QT syndrome 1	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 65420942.	NM_005184.4(CALM3):c.131C>T (p.Pro44Leu) GRCh37: Chr19:47111550 GRCh38: Chr19:46608293	CALM3	P44L, P8L	Long QT syndrome 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 65145843.	NM_000218.3(KCNQ1):c.683+1G>A GRCh37: Chr11:2592634 GRCh38: Chr11:2571404	KCNQ1		not provided, Long QT syndrome, Congenital long QT syndrome	Pathogenic/Likely pathogenic (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65055644.	NM_001743.6(CALM2):c.379A>G (p.Arg127Gly) GRCh37: Chr2:47388904 GRCh38: Chr2:47161765	CALM2	R91G, R127G, R175G	Long QT syndrome 1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 65024545.	NM_001743.6(CALM2):c.414C>A (p.Asn138Lys) GRCh37: Chr2:47388869 GRCh38: Chr2:47161730	CALM2	N102K, N138K, N186K	Long QT syndrome 1	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 64154446.	NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr) GRCh37: Chr2:47388997 GRCh38: Chr2:47161858	CALM2	D144Y, D60Y, D96Y	Long QT syndrome 1	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 56069447.	NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) GRCh37: Chr12:2690777 GRCh38: Chr12:2581611	CACNA1C	N639K, N636K	Long QT syndrome, Congenital long QT syndrome, Timothy syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 50789248.	NM_001743.6(CALM2):c.179-9C>T GRCh37: Chr2:47389540 GRCh38: Chr2:47162401	CALM2		Long QT syndrome 1, not specified	Likely benign (Nov 20, 2018)	criteria provided, multiple submitters, no conflicts
Select item 50739349.	NM_005184.4(CALM3):c.354C>T (p.Thr118=) GRCh37: Chr19:47112171 GRCh38: Chr19:46608914	CALM3		Long QT syndrome 1, not provided, Cardiovascular phenotype	Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45819850.	NM_005184.4(CALM3):c.422A>G (p.Glu141Gly) GRCh37: Chr19:47112382 GRCh38: Chr19:46609125	CALM3	E141G, E105G	Long QT syndrome 1	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 45819651.	NM_005184.4(CALM3):c.309C>T (p.Ala103=) GRCh37: Chr19:47112126 GRCh38: Chr19:46608869	CALM3		Cardiovascular phenotype, not provided, Long QT syndrome 1	Likely benign (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45819252.	NM_001743.6(CALM2):c.348G>A (p.Lys116=) GRCh37: Chr2:47388935 GRCh38: Chr2:47161796	CALM2		Long QT syndrome 1, Cardiovascular phenotype, not specified	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45819053.	NM_001743.6(CALM2):c.179-8C>G GRCh37: Chr2:47389539 GRCh38: Chr2:47162400	CALM2		Long QT syndrome 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 44487954.	NM_000218.2(KCNQ1):c.[1249G>A;760G>A] GRCh37: Chr11:2593319 Chr11:2608920 GRCh38: Chr11:2572089 Chr11:2587690	KCNQ1, KCNQ1	V254M, V127M, V164M, V417M, V290M, V237M, V385M, V327M	Long QT syndrome 1	Pathogenic (Mar 1, 2004)	no assertion criteria provided
Select item 44084955.	NM_198056.2(SCN5A):c.[1535C>T;1673A>G] GRCh37: Chr3:38645420 Chr3:38645558 GRCh38: Chr3:38603929 Chr3:38604067	SCN5A, SCN5A	H558R, T512I	Progressive familial heart block, type 1A	Pathogenic (Apr 15, 2008)	no assertion criteria provided
Select item 41584556.	NM_005184.4(CALM3):c.324C>T (p.His108=) GRCh37: Chr19:47112141 GRCh38: Chr19:46608884	CALM3		Cardiovascular phenotype, not specified, Long QT syndrome 1	Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41584457.	NM_005184.4(CALM3):c.24G>A (p.Glu8=) GRCh37: Chr19:47109104 GRCh38: Chr19:46605847	CALM3		Long QT syndrome 1	Likely benign (Dec 10, 2020)	criteria provided, single submitter
Select item 41552758.	NM_001743.6(CALM2):c.422-15CTT[2] GRCh37: Chr2:47387950-47387952 GRCh38: Chr2:47160811-47160813	CALM2		not provided, Long QT syndrome 1	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40987059.	NM_005184.4(CALM3):c.286G>C (p.Asp96His) GRCh37: Chr19:47112103 GRCh38: Chr19:46608846	CALM3	D96H, D60H	Long QT syndrome 1	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 40986960.	NM_005184.4(CALM3):c.421+4A>G GRCh37: Chr19:47112242 GRCh38: Chr19:46608985	CALM3		Long QT syndrome 16, Long QT syndrome 1	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36936161.	NM_000219.5(KCNE1):c.-628A>G GRCh37: Chr21:35884576 GRCh38: Chr21:34512278	KCNE1		Congenital long QT syndrome, Long QT syndrome, Jervell and Lange-Nielsen syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36086062.	NM_005751.5(AKAP9):c.*494G>T GRCh37: Chr7:91739967 GRCh38: Chr7:92110653	AKAP9		Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36085963.	NM_005751.5(AKAP9):c.*462T>A GRCh37: Chr7:91739935 GRCh38: Chr7:92110621	AKAP9		Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36085864.	NM_005751.5(AKAP9):c.*116A>T GRCh37: Chr7:91739589 GRCh38: Chr7:92110275	AKAP9		Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36085765.	NM_005751.5(AKAP9):c.*79T>C GRCh37: Chr7:91739552 GRCh38: Chr7:92110238	AKAP9		Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36085666.	NM_005751.5(AKAP9):c.11549A>G (p.Tyr3850Cys) GRCh37: Chr7:91737810 GRCh38: Chr7:92108496	AKAP9	Y3850C, Y3842C, Y2065C	Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36085567.	NM_005751.5(AKAP9):c.11335A>C (p.Lys3779Gln) GRCh37: Chr7:91734996 GRCh38: Chr7:92105682	AKAP9	K3779Q, K3771Q, K1994Q	Congenital long QT syndrome, Long QT syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36085468.	NM_005751.5(AKAP9):c.11331-11A>T GRCh37: Chr7:91734981 GRCh38: Chr7:92105667	AKAP9		not provided, Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 11	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36085369.	NM_005751.5(AKAP9):c.11229G>T (p.Met3743Ile) GRCh37: Chr7:91732039 GRCh38: Chr7:92102725	AKAP9	M3743I, M3735I, M1958I	Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 36085270.	NM_005751.5(AKAP9):c.10924G>T (p.Ala3642Ser) GRCh37: Chr7:91730197 GRCh38: Chr7:92100883	AKAP9	A3642S, A3634S, A1857S	Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36085171.	NM_005751.5(AKAP9):c.10901C>G (p.Ser3634Cys) GRCh37: Chr7:91730174 GRCh38: Chr7:92100860	AKAP9	S3634C, S3626C, S1849C	Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36085072.	NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=) GRCh37: Chr7:91729132 GRCh38: Chr7:92099818	AKAP9		not provided, Cardiovascular phenotype, Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 11	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36084973.	NM_005751.5(AKAP9):c.10710A>G (p.Glu3570=) GRCh37: Chr7:91727525 GRCh38: Chr7:92098211	AKAP9		Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome	Conflicting interpretations of pathogenicity (Nov 22, 2022)	criteria provided, conflicting interpretations
Select item 36084874.	NM_005751.5(AKAP9):c.10608-15G>C GRCh37: Chr7:91727408 GRCh38: Chr7:92098094	AKAP9		Congenital long QT syndrome, Long QT syndrome 11, not provided, not specified, Long QT syndrome	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36084775.	NM_005751.5(AKAP9):c.10221G>A (p.Glu3407=) GRCh37: Chr7:91726494 GRCh38: Chr7:92097180	AKAP9		Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Jul 15, 2022)	criteria provided, conflicting interpretations
Select item 36084676.	NM_005751.5(AKAP9):c.10107T>C (p.Tyr3369=) GRCh37: Chr7:91726380 GRCh38: Chr7:92097066	AKAP9		Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Aug 28, 2022)	criteria provided, conflicting interpretations
Select item 36084577.	NM_005751.5(AKAP9):c.9358+10A>G GRCh37: Chr7:91718853 GRCh38: Chr7:92089539	AKAP9		Congenital long QT syndrome, not provided, Long QT syndrome	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 36084478.	NM_005751.5(AKAP9):c.9229G>A (p.Ala3077Thr) GRCh37: Chr7:91718714 GRCh38: Chr7:92089400	AKAP9	A3077T, A3069T, A1292T	Congenital long QT syndrome, Long QT syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36084379.	NM_005751.5(AKAP9):c.9214-6T>C GRCh37: Chr7:91718693 GRCh38: Chr7:92089379	AKAP9		Congenital long QT syndrome, Long QT syndrome, not specified	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 36084280.	NM_005751.5(AKAP9):c.9170C>A (p.Ala3057Glu) GRCh37: Chr7:91715687 GRCh38: Chr7:92086373	AKAP9	A3057E, A3049E, A1272E	Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36084181.	NM_005751.5(AKAP9):c.8995A>G (p.Thr2999Ala) GRCh37: Chr7:91714971 GRCh38: Chr7:92085657	AKAP9	T2999A, T2991A, T1214A	Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36084082.	NM_005751.5(AKAP9):c.8524A>G (p.Met2842Val) GRCh37: Chr7:91712847 GRCh38: Chr7:92083533	AKAP9	M2842V, M2834V, M1057V	Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype	Uncertain significance (Apr 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36083983.	NM_005751.5(AKAP9):c.8161-6T>A GRCh37: Chr7:91712478 GRCh38: Chr7:92083164	AKAP9		Congenital long QT syndrome, Long QT syndrome	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 36083884.	NM_005751.5(AKAP9):c.7556A>G (p.Tyr2519Cys) GRCh37: Chr7:91709003 GRCh38: Chr7:92079689	AKAP9	Y2519C, Y2511C, Y734C	Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36083785.	NM_005751.5(AKAP9):c.6946-12A>G GRCh37: Chr7:91708381 GRCh38: Chr7:92079067	AKAP9		Long QT syndrome, Congenital long QT syndrome	Conflicting interpretations of pathogenicity (Aug 3, 2021)	criteria provided, conflicting interpretations
Select item 36083686.	NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly) GRCh37: Chr7:91707140 GRCh38: Chr7:92077826	AKAP9	E2299G, E2291G, E514G	Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome	Uncertain significance (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36083587.	NM_005751.5(AKAP9):c.6888A>G (p.Gln2296=) GRCh37: Chr7:91707132 GRCh38: Chr7:92077818	AKAP9		Congenital long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36083488.	NM_005751.5(AKAP9):c.6376A>C (p.Ser2126Arg) GRCh37: Chr7:91699389 GRCh38: Chr7:92070075	AKAP9	S2126R, S341R	Cardiovascular phenotype, Congenital long QT syndrome	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36083389.	NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=) GRCh37: Chr7:91691718 GRCh38: Chr7:92062404	AKAP9		Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 36083290.	NM_005751.5(AKAP9):c.5725G>A (p.Ala1909Thr) GRCh37: Chr7:91690697 GRCh38: Chr7:92061383	AKAP9	A1909T, A124T	Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome	Conflicting interpretations of pathogenicity (Feb 13, 2023)	criteria provided, conflicting interpretations
Select item 36083191.	NM_005751.5(AKAP9):c.5722A>G (p.Arg1908Gly) GRCh37: Chr7:91690694 GRCh38: Chr7:92061380	AKAP9	R1908G, R123G	Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome	Conflicting interpretations of pathogenicity (Feb 25, 2023)	criteria provided, conflicting interpretations
Select item 36083092.	NM_005751.5(AKAP9):c.5496A>G (p.Gly1832=) GRCh37: Chr7:91682167 GRCh38: Chr7:92052853	AKAP9		Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype, Congenital long QT syndrome	Conflicting interpretations of pathogenicity (Apr 21, 2022)	criteria provided, conflicting interpretations
Select item 36082993.	NM_005751.5(AKAP9):c.5227G>A (p.Ala1743Thr) GRCh37: Chr7:91674386 GRCh38: Chr7:92045072	AKAP9	A1743T	Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome	Uncertain significance (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36082894.	NM_005751.5(AKAP9):c.4534GAA[1] (p.Glu1513del) GRCh37: Chr7:91667926-91667928 GRCh38: Chr7:92038612-92038614	AKAP9	E1513del	Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36082795.	NM_005751.5(AKAP9):c.4293G>A (p.Leu1431=) GRCh37: Chr7:91660873 GRCh38: Chr7:92031559	AKAP9		Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 36082696.	NM_005751.5(AKAP9):c.4253G>A (p.Gly1418Asp) GRCh37: Chr7:91660833 GRCh38: Chr7:92031519	AKAP9	G1418D	Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome	Conflicting interpretations of pathogenicity (Jan 19, 2022)	criteria provided, conflicting interpretations
Select item 36082597.	NM_005751.5(AKAP9):c.4164G>A (p.Ser1388=) GRCh37: Chr7:91659224 GRCh38: Chr7:92029910	AKAP9		Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 36082498.	NM_005751.5(AKAP9):c.3932T>A (p.Met1311Lys) GRCh37: Chr7:91651646 GRCh38: Chr7:92022332	AKAP9	M1311K	Congenital long QT syndrome, Cardiovascular phenotype	Uncertain significance (Dec 8, 2020)	criteria provided, multiple submitters, no conflicts
Select item 36082399.	NM_005751.5(AKAP9):c.3874T>C (p.Phe1292Leu) GRCh37: Chr7:91651588 GRCh38: Chr7:92022274	AKAP9	F1292L	Congenital long QT syndrome, Long QT syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 360822100.	NM_005751.5(AKAP9):c.3708A>T (p.Glu1236Asp) GRCh37: Chr7:91645538 GRCh38: Chr7:92016224	AKAP9	E1236D	Congenital long QT syndrome, Long QT syndrome	Uncertain significance (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts

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