ClinVar for Gene (Select 3757) - 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 3067556	NM_000238.4(KCNH2):c.3198G>T (p.Leu1066=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 3048201	NM_000238.4(KCNH2):c.2398+278C>T	KCNH2	Single nucleotide variant (3 prime UTR variant +1 more)	KCNH2-related condition	GLikely benign
Select item 3037220	NM_000238.4(KCNH2):c.2398+23T>G	KCNH2	Single nucleotide variant (synonymous variant +1 more)	KCNH2-related condition	GLikely benign
Select item 3023635	NM_000238.4(KCNH2):c.967G>C (p.Asp323His)	KCNH2 (D264H +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3023494	NM_000238.4(KCNH2):c.972C>G (p.Leu324=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3022349	NM_000238.4(KCNH2):c.489C>G (p.Phe163Leu)	KCNH2 (F104L +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3022339	NM_000238.4(KCNH2):c.1128+17C>G	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3020602	NM_000238.4(KCNH2):c.860A>G (p.Asp287Gly)	KCNH2 (D191G +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3017679	NM_000238.4(KCNH2):c.1328C>A (p.Thr443Asn)	KCNH2 (T103N +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3017325	NM_000238.4(KCNH2):c.2517G>A (p.Leu839=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3016546	NM_000238.4(KCNH2):c.1976T>G (p.Val659Gly)	KCNH2 (V559G +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3015190	NM_000238.4(KCNH2):c.910_915del (p.Ser304_Thr305del)	KCNH2	Deletion (inframe_deletion +1 more)	Long QT syndrome	GUncertain significance
Select item 3014730	NM_000238.4(KCNH2):c.2592+16T>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3010945	NM_000238.4(KCNH2):c.726C>T (p.Arg242=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3007452	NM_000238.4(KCNH2):c.3330+17C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3005198	NM_000238.4(KCNH2):c.2692+17_2692+31del	KCNH2	Deletion (intron variant)	Long QT syndrome	GUncertain significance
Select item 3003155	NM_000238.4(KCNH2):c.30G>C (p.Pro10=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3000624	NM_000238.4(KCNH2):c.396G>T (p.Val132=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2999609	NM_000238.4(KCNH2):c.76+17del	KCNH2	Deletion (intron variant)	Long QT syndrome	GBenign
Select item 2996333	NM_000238.4(KCNH2):c.3153-15C>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2996262	NM_000238.4(KCNH2):c.3133C>A (p.Leu1045Ile)	KCNH2 (L949I +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2995657	NM_000238.4(KCNH2):c.3331-10T>C	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 2995483	NM_000238.4(KCNH2):c.2796C>T (p.Ser932=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2989795	NM_000238.4(KCNH2):c.2547C>G (p.Ser849=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2987344	NM_000238.4(KCNH2):c.2677A>C (p.Arg893=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2986808	NM_000238.4(KCNH2):c.1278C>G (p.Pro426=)	KCNH2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 2985154	NM_000238.4(KCNH2):c.1161G>A (p.Glu387=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2983554	NM_000238.4(KCNH2):c.2730G>C (p.Pro910=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2981924	NM_000238.4(KCNH2):c.1945+19G>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2981046	NM_000238.4(KCNH2):c.3153-5C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2977728	NM_000238.4(KCNH2):c.917-13C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2976495	NM_000238.4(KCNH2):c.550G>A (p.Gly184Ser)	KCNH2 (G84S +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2976301	NM_000238.4(KCNH2):c.2804C>A (p.Pro935His)	KCNH2 (P935H +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2971167	NM_000238.4(KCNH2):c.742C>G (p.Leu248Val)	KCNH2 (L248V +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2968129	NM_000238.4(KCNH2):c.2992T>G (p.Phe998Val)	KCNH2 (F998V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2967410	NM_000238.4(KCNH2):c.439C>T (p.His147Tyr)	KCNH2 (H147Y +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2967007	NM_000238.4(KCNH2):c.2244G>A (p.Lys748=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2964910	NM_000238.4(KCNH2):c.77-7C>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2963217	NM_000238.4(KCNH2):c.126C>T (p.Ile42=)	KCNH2	Single nucleotide variant (synonymous variant +2 more)	Long QT syndrome	GLikely benign
Select item 2962867	NM_000238.4(KCNH2):c.3131C>T (p.Ala1044Val)	KCNH2 (A1044V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2962391	NM_000238.4(KCNH2):c.76+11G>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2959784	NM_000238.4(KCNH2):c.96C>T (p.Ala32=)	KCNH2	Single nucleotide variant (synonymous variant +2 more)	Long QT syndrome	GLikely benign
Select item 2959230	NM_000238.4(KCNH2):c.172G>C (p.Glu58Gln)	KCNH2 (E58Q)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome	GUncertain significance
Select item 2958554	NM_000238.4(KCNH2):c.3387A>G (p.Gln1129=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2954578	NM_000238.4(KCNH2):c.522G>C (p.Thr174=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2920521	NM_000238.4(KCNH2):c.2592+17G>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2919924	NM_000238.4(KCNH2):c.2690_2691delinsCC (p.Lys897Thr)	KCNH2 (K557T +2 more)	Indel (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 2919780	NM_000238.4(KCNH2):c.2256G>C (p.Arg752=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2919164	NM_000238.4(KCNH2):c.2009C>T (p.Thr670Ile)	KCNH2 (T570I +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2918940	NM_000238.4(KCNH2):c.1558-7C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2918473	NM_000238.4(KCNH2):c.668_671del (p.Ala223fs)	KCNH2 (A223fs)	Deletion (frameshift variant)	Long QT syndrome	GPathogenic
Select item 2917636	NM_000238.4(KCNH2):c.1129-18C>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 2917181	NM_000238.4(KCNH2):c.537G>A (p.Ser179=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2916911	NM_000238.4(KCNH2):c.2868G>A (p.Val956=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2916630	NM_000238.4(KCNH2):c.2952C>T (p.Cys984=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2916410	NM_000238.4(KCNH2):c.1938C>T (p.Leu646=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2915838	NM_000238.4(KCNH2):c.936C>T (p.Arg312=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2915457	NM_000238.4(KCNH2):c.3236G>A (p.Ser1079Asn)	KCNH2 (S1079N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2915396	NM_000238.4(KCNH2):c.1557+13A>G	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2914575	NM_000238.4(KCNH2):c.2692+21_2692+47del	KCNH2	Deletion (intron variant)	Long QT syndrome	GLikely benign
Select item 2913398	NM_000238.4(KCNH2):c.308-18T>C	KCNH2 (M1T)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome	GLikely benign
Select item 2911261	NM_000238.4(KCNH2):c.1558-13C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2910694	NM_000238.4(KCNH2):c.2718G>A (p.Ser906=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2906537	NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter)	KCNH2 (Q974* +2 more)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome	GPathogenic
Select item 2905843	NM_000238.4(KCNH2):c.510G>T (p.Leu170=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2905757	NM_000238.4(KCNH2):c.3194A>G (p.Gln1065Arg)	KCNH2 (Q725R +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2904771	NM_000238.4(KCNH2):c.2973C>G (p.Phe991Leu)	KCNH2 (F651L +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2903986	NM_000238.4(KCNH2):c.540G>A (p.Val180=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2903595	NM_000238.4(KCNH2):c.2146-8G>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2903588	NM_000238.4(KCNH2):c.990T>G (p.Ile330Met)	KCNH2 (I271M +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2902664	NM_000238.4(KCNH2):c.2692+12G>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2901043	NM_000238.4(KCNH2):c.2800G>T (p.Gly934Cys)	KCNH2 (G594C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2900378	NM_000238.4(KCNH2):c.308-19A>G	KCNH2 (M1V)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome	GLikely benign
Select item 2900314	NM_000238.4(KCNH2):c.1304A>G (p.Glu435Gly)	KCNH2 (E335G +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2899347	NM_000238.4(KCNH2):c.1144G>A (p.Ala382Thr)	KCNH2 (A282T +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2897865	NM_000238.4(KCNH2):c.3153-18C>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2897483	NM_000238.4(KCNH2):c.1842G>C (p.Ala614=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2896648	NM_000238.4(KCNH2):c.1128+13C>G	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2894783	NM_000238.4(KCNH2):c.246C>G (p.Ile82Met)	KCNH2 (I23M +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2892796	NM_000238.4(KCNH2):c.116G>A (p.Cys39Tyr)	KCNH2 (C39Y)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome	GUncertain significance
Select item 2892139	NM_000238.4(KCNH2):c.906C>T (p.His302=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2890968	NM_000238.4(KCNH2):c.238G>T (p.Ala80Ser)	KCNH2 (A21S +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2890606	NM_000238.4(KCNH2):c.38C>T (p.Thr13Ile)	KCNH2 (T13I)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2890466	NM_000238.4(KCNH2):c.76+20_76+35del	KCNH2	Deletion (intron variant)	Long QT syndrome	GLikely benign
Select item 2889317	NM_000238.4(KCNH2):c.308-15C>T	KCNH2 (S2F)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 2888606	NM_000238.4(KCNH2):c.819A>G (p.Arg273=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2886467	NM_000238.4(KCNH2):c.2965+15G>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2885841	NM_000238.4(KCNH2):c.2692+9G>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2884937	NM_000238.4(KCNH2):c.1872T>C (p.Ser624=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2882279	NM_000238.4(KCNH2):c.1227G>C (p.Val409=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2881810	NM_000238.4(KCNH2):c.75G>C (p.Gln25His)	KCNH2 (Q25H)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2881592	NM_000238.4(KCNH2):c.2243A>G (p.Lys748Arg)	KCNH2 (K648R +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2880947	NM_000238.4(KCNH2):c.2298G>A (p.Gly766=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2880265	NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter)	KCNH2 (E31* +1 more)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome	GPathogenic

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