ClinVar for MedGen (Select 462293) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068475	NM_000238.4(KCNH2):c.1913del (p.Lys638fs)	KCNH2 (K298fs +4 more)	Deletion (frameshift variant +1 more)	Long QT syndrome 2	GLikely pathogenic
Select item 3066169	NM_000238.4(KCNH2):c.1863C>A (p.Ser621Arg)	KCNH2 (S281R +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 2	GPathogenic
Select item 3065327	NM_000238.4(KCNH2):c.1819A>G (p.Ile607Val)	KCNH2 (I267V +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 2	GUncertain significance
Select item 3064233	NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg)	KCNH2 (C215R +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 2	GLikely pathogenic
Select item 2687478	NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs)	KCNH2 (G1087fs +2 more)	Insertion (frameshift variant +1 more)	Long QT syndrome 2	GLikely pathogenic
Select item 2665002	NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter)	KCNH2 (W245* +4 more)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome 2	GLikely pathogenic
Select item 2579645	NM_000238.4(KCNH2):c.1093del (p.Glu365fs)	KCNH2 (E265fs +3 more)	Deletion (frameshift variant +1 more)	Long QT syndrome 2	GLikely pathogenic
Select item 2442075	NM_000238.4(KCNH2):c.991del (p.Ser331fs)	KCNH2 (S331fs)	Deletion (frameshift variant)	Long QT syndrome 2 +1 more	GPathogenic
Select item 2136630	NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter)	KCNH2 (E177* +3 more)	Single nucleotide variant (nonsense)	Long QT syndrome 2 +1 more	GPathogenic
Select item 1805603	NM_000238.4(KCNH2):c.1900A>C (p.Thr634Pro)	KCNH2 (T294P +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GUncertain significance
Select item 1805233	NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr)	KCNH2 (N239Y +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GUncertain significance
Select item 1804945	NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs)	KCNH2 (P1034fs +1 more)	Duplication (frameshift variant)	Long QT syndrome +1 more	GPathogenic
Select item 1713142	NM_000238.4(KCNH2):c.2398+5G>A	KCNH2 (M461I +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 2	GLikely pathogenic
Select item 1710245	NM_000238.4(KCNH2):c.1415G>A (p.Arg472His)	KCNH2 (R132H +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1683771	NM_000238.4(KCNH2):c.80del (p.Arg27fs)	KCNH2 (R27fs)	Deletion (frameshift variant)	Long QT syndrome 2	GLikely pathogenic
Select item 1683770	NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter)	KCNH2 (E134* +3 more)	Single nucleotide variant (nonsense)	Long QT syndrome 2	GLikely pathogenic
Select item 1675096	NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs)	KCNH2 (R188fs +1 more)	Deletion (frameshift variant)	Short QT syndrome type 1 +1 more	GPathogenic
Select item 1527874	NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs)	KCNH2 (S579fs +1 more)	Duplication (frameshift variant)	Long QT syndrome 2	GPathogenic
Select item 1527873	NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala)	KCNH2 (D126A +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GPathogenic
Select item 1526102	NM_000238.4(KCNH2):c.743T>G (p.Leu248Arg)	KCNH2 (L248R +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GUncertain significance
Select item 1516873	NM_000238.4(KCNH2):c.553G>A (p.Ala185Thr)	KCNH2 (A185T +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1511646	NM_000238.4(KCNH2):c.731C>G (p.Ala244Gly)	KCNH2 (A244G +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1463165	NM_000238.4(KCNH2):c.2050A>G (p.Ile684Val)	KCNH2 (I344V +4 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +2 more	GUncertain significance
Select item 1449884	NM_000238.4(KCNH2):c.899C>T (p.Pro300Leu)	KCNH2 (P300L +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1446314	NM_000238.4(KCNH2):c.1945+18C>T	KCNH2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1437384	NM_000238.4(KCNH2):c.2457C>G (p.Asn819Lys)	KCNH2 (N819K +1 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +2 more	GUncertain significance
Select item 1425966	NM_000238.4(KCNH2):c.3373C>G (p.Pro1125Ala)	KCNH2 (P1125A +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +2 more	GUncertain significance
Select item 1410845	NM_000238.4(KCNH2):c.750_751delinsCT (p.Pro251Ser)	KCNH2 (P251S +3 more)	Indel (missense variant +1 more)	Long QT syndrome 2 +2 more	GUncertain significance
Select item 1369798	NM_000238.4(KCNH2):c.1871G>A (p.Ser624Asn)	KCNH2 (S284N +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1338861	NM_000238.4(KCNH2):c.418del (p.Ser140fs)	KCNH2 (S140fs)	Deletion (frameshift variant)	Long QT syndrome 2	GPathogenic
Select item 1331098	NM_000238.4(KCNH2):c.76+2T>A	KCNH2	Single nucleotide variant (splice donor variant)	Long QT syndrome +1 more	GLikely pathogenic
Select item 1330911	NM_000238.4(KCNH2):c.3153-18C>T	KCNH2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1299593	NM_000238.4(KCNH2):c.251A>G (p.Gln84Arg)	KCNH2 (Q84R +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GUncertain significance
Select item 1284672	NM_000238.4(KCNH2):c.2965+14C>T	KCNH2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1197726	NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr)	KCNH2 (A78T +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1178326	NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter)	KCNH2 (Y135* +4 more)	Single nucleotide variant (nonsense)	Long QT syndrome 2	GPathogenic
Select item 1076382	NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter)	KCNH2 (R273* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1064627	NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC	KCNH2	Indel (intron variant)	Long QT syndrome 2	GLikely pathogenic
Select item 1064605	NM_000238.4(KCNH2):c.2399-28del	KCNH2	Deletion (intron variant)	Long QT syndrome 2	GPathogenic
Select item 1054268	NM_000238.4(KCNH2):c.2675G>A (p.Arg892His)	KCNH2 (R552H +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 1047559	NM_000238.4(KCNH2):c.434C>T (p.Thr145Ile)	KCNH2 (T145I +3 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +2 more	GUncertain significance
Select item 1037100	NM_000238.4(KCNH2):c.2781G>T (p.Trp927Cys)	KCNH2 (W927C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1035669	NM_000238.4(KCNH2):c.3406C>T (p.Leu1136Phe)	KCNH2 (L1136F +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1034121	NM_000238.4(KCNH2):c.2966-12C>G	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome 2	GUncertain significance
Select item 1027323	NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro)	KCNH2 (L450P +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +1 more	GLikely pathogenic
Select item 1026816	NM_000238.4(KCNH2):c.2588G>A (p.Arg863Gln)	KCNH2 (R523Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 1021554	NM_000238.4(KCNH2):c.306T>C (p.Asp102=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1019746	NM_000238.4(KCNH2):c.3013C>T (p.Arg1005Trp)	KCNH2 (R1005W +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1006883	NM_000238.4(KCNH2):c.2696C>A (p.Thr899Lys)	KCNH2 (T559K +1 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +2 more	GUncertain significance
Select item 987798	NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr)	KCNH2 (A79T +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 983076	NM_000238.4(KCNH2):c.2676del (p.Arg893fs)	KCNH2 (R553fs +1 more)	Deletion (frameshift variant)	Long QT syndrome 2	GLikely pathogenic
Select item 979201	NM_000238.4(KCNH2):c.1967del (p.Phe656fs)	KCNH2 (F316fs +1 more)	Deletion (frameshift variant)	Long QT syndrome 2	GPathogenic
Select item 979134	NM_000238.4(KCNH2):c.2870C>T (p.Pro957Leu)	KCNH2 (P617L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GUncertain significance
Select item 979129	NM_000238.4(KCNH2):c.2054G>A (p.Arg685His)	KCNH2 (R345H +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 979128	NM_000238.4(KCNH2):c.2332G>A (p.Ala778Thr)	KCNH2 (A438T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 978356	NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro)	KCNH2 (L192P +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 973054	NM_000238.4(KCNH2):c.1926C>G (p.Ile642Met)	KCNH2 (I302M +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 972695	NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter)	KCNH2 (W410* +4 more)	Single nucleotide variant (nonsense)	Long QT syndrome 2	GPathogenic
Select item 972694	NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe)	KCNH2 (C49F)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GLikely pathogenic
Select item 968402	NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter)	KCNH2 (Q335* +3 more)	Single nucleotide variant (nonsense)	Long QT syndrome	GPathogenic
Select item 968306	NM_000238.4(KCNH2):c.2968G>A (p.Ala990Thr)	KCNH2 (A650T +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 955775	NM_000238.4(KCNH2):c.478G>T (p.Ala160Ser)	KCNH2 (A160S +3 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +3 more	GUncertain significance
Select item 945957	NM_000238.4(KCNH2):c.2092G>A (p.Glu698Lys)	KCNH2 (E698K +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 940061	NM_000238.4(KCNH2):c.2386G>T (p.Val796Leu)	KCNH2 (V796L +4 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +2 more	GUncertain significance
Select item 937094	NM_000238.4(KCNH2):c.1621C>T (p.Arg541Cys)	KCNH2 (R541C +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 933401	NM_000238.4(KCNH2):c.1178C>T (p.Pro393Leu)	KCNH2 (P393L +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 927873	NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys)	KCNH2 (T895K +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 925591	NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp)	KCNH2 (R883W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 924438	NM_000238.4(KCNH2):c.2659C>G (p.Arg887Gly)	KCNH2 (R547G +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 924279	NM_000238.4(KCNH2):c.2231G>A (p.Arg744Gln)	KCNH2 (R404Q +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 923223	NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn)	KCNH2 (T13N)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 2 +5 more	GUncertain significance
Select item 921867	NM_000238.4(KCNH2):c.2774G>A (p.Gly925Glu)	KCNH2 (G585E +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 921743	NM_000238.4(KCNH2):c.-29GGCCCGCCC[3]	KCNH2	Microsatellite (5 prime UTR variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 919282	NM_000238.4(KCNH2):c.2931C>G (p.Cys977Trp)	KCNH2 (C637W +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +3 more	GUncertain significance
Select item 919273	NM_000238.4(KCNH2):c.2684C>G (p.Thr895Arg)	KCNH2 (T555R +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 911915	NM_000238.4(KCNH2):c.684G>A (p.Ala228=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 911914	NM_000238.4(KCNH2):c.825C>G (p.Ser275Arg)	KCNH2 (S275R +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GUncertain significance
Select item 911855	NM_000238.4(KCNH2):c.1707C>T (p.Tyr569=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +3 more	GConflicting classifications of pathogenicity
Select item 911854	NM_000238.4(KCNH2):c.1771G>A (p.Asp591Asn)	KCNH2 (D591N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 911812	NM_000238.4(KCNH2):c.3171T>C (p.Ser1057=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome 2	GUncertain significance
Select item 911811	NM_000238.4(KCNH2):c.*56C>T	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 911810	NM_000238.4(KCNH2):c.*92C>G	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 911809	NM_000238.4(KCNH2):c.*92C>T	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GBenign
Select item 910683	NM_000238.4(KCNH2):c.1053G>A (p.Ser351=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 910581	NM_000238.4(KCNH2):c.*147T>A	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 910580	NM_000238.4(KCNH2):c.*190C>T	KCNH2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 910579	NM_000238.4(KCNH2):c.*268C>T	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 909852	NM_000238.4(KCNH2):c.-245C>T	KCNH2	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 909851	NM_000238.4(KCNH2):c.-174G>A	KCNH2	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 909783	NM_000238.4(KCNH2):c.1126C>G (p.Gln376Glu)	KCNH2 (Q376E +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GUncertain significance
Select item 909782	NM_000238.4(KCNH2):c.1308G>A (p.Thr436=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 909781	NM_000238.4(KCNH2):c.1397A>G (p.Asp466Gly)	KCNH2 (D466G +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 909709	NM_000238.4(KCNH2):c.2793G>A (p.Pro931=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GConflicting classifications of pathogenicity
Select item 908982	NM_000238.4(KCNH2):c.-45G>A	KCNH2	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 908981	NM_000238.4(KCNH2):c.-33T>C	KCNH2	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 908980	NM_000238.4(KCNH2):c.77-6C>G	KCNH2	Single nucleotide variant (intron variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 908910	NM_000238.4(KCNH2):c.1600C>G (p.Arg534Gly)	KCNH2 (R194G +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GUncertain significance
Select item 908854	NM_000238.4(KCNH2):c.2965+11C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 908853	NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=)	KCNH2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 869439	NM_000238.4(KCNH2):c.95C>T (p.Ala32Val)	KCNH2 (A32V)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GPathogenic

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