KCNH5[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 710

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 151452	GRCh38/hg38 14q23.2(chr14:62330001-63219846)x3	KCNH5, LOC112272546 +3 more	Copy number gain	See cases	GLikely benign
Select item 2715154	NM_139318.5(KCNH5):c.2954A>T (p.Glu985Val)	KCNH5 (E985V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530640	NM_139318.5(KCNH5):c.2953G>T (p.Glu985Ter)	KCNH5 (E985*)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 575955	NM_139318.5(KCNH5):c.2951A>T (p.Asp984Val)	KCNH5 (D984V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 962491	NM_139318.5(KCNH5):c.2948A>G (p.Lys983Arg)	KCNH5 (K983R)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 2014080	NM_139318.5(KCNH5):c.2942C>T (p.Ser981Phe)	KCNH5 (S981F)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2122168	NM_139318.5(KCNH5):c.2936C>T (p.Pro979Leu)	KCNH5 (P979L)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2996105	NM_139318.5(KCNH5):c.2935C>T (p.Pro979Ser)	KCNH5 (P979S)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1056451	NM_139318.5(KCNH5):c.2927C>T (p.Pro976Leu)	KCNH5 (P976L)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2907545	NM_139318.5(KCNH5):c.2921C>G (p.Ser974Ter)	KCNH5 (S974*)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2154524	NM_139318.5(KCNH5):c.2913T>C (p.Phe971=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 661495	NM_139318.5(KCNH5):c.2890dup (p.Gln964fs)	KCNH5 (Q964fs)	Duplication (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1999024	NM_139318.5(KCNH5):c.2890del (p.Gln964fs)	KCNH5 (Q964fs)	Deletion (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 568811	NM_139318.5(KCNH5):c.2890C>G (p.Gln964Glu)	KCNH5 (Q964E)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 241863	NM_139318.5(KCNH5):c.2890C>A (p.Gln964Lys)	KCNH5 (Q964K)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 2976764	NM_139318.5(KCNH5):c.2889C>G (p.Pro963=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1618343	NM_139318.5(KCNH5):c.2889C>T (p.Pro963=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1570570	NM_139318.5(KCNH5):c.2889C>A (p.Pro963=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2808230	NM_139318.5(KCNH5):c.2888C>T (p.Pro963Leu)	KCNH5 (P963L)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2256574	NM_139318.5(KCNH5):c.2888C>A (p.Pro963His)	KCNH5 (P963H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 461394	NM_139318.5(KCNH5):c.2884C>T (p.Pro962Ser)	KCNH5 (P962S)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2644274	NM_139318.5(KCNH5):c.2883A>T (p.Val961=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3233984	NM_139318.5(KCNH5):c.2878C>T (p.Gln960Ter)	KCNH5 (Q960*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1385516	NM_139318.5(KCNH5):c.2872C>T (p.Pro958Ser)	KCNH5 (P958S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2057139	NM_139318.5(KCNH5):c.2866C>A (p.Gln956Lys)	KCNH5 (Q956K)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1426513	NM_139318.5(KCNH5):c.2860A>G (p.Lys954Glu)	KCNH5 (K954E)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 2784530	NM_139318.5(KCNH5):c.2859C>T (p.Pro953=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3383855	NM_139318.5(KCNH5):c.2857C>T (p.Pro953Ser)	KCNH5 (P953S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2916435	NM_139318.5(KCNH5):c.2855C>T (p.Ser952Phe)	KCNH5 (S952F)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2828971	NM_139318.5(KCNH5):c.2847G>A (p.Gln949=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1503365	NM_139318.5(KCNH5):c.2846A>C (p.Gln949Pro)	KCNH5 (Q949P)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1412435	NM_139318.5(KCNH5):c.2842C>T (p.Pro948Ser)	KCNH5 (P948S)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 764992	NM_139318.5(KCNH5):c.2841A>C (p.Val947=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1616655	NM_139318.5(KCNH5):c.2838C>T (p.Ser946=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1367379	NM_139318.5(KCNH5):c.2837G>A (p.Ser946Asn)	KCNH5 (S946N)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 575130	NM_139318.5(KCNH5):c.2833A>G (p.Lys945Glu)	KCNH5 (K945E)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1461430	NM_139318.5(KCNH5):c.2831A>T (p.Glu944Val)	KCNH5 (E944V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1170778	NM_139318.5(KCNH5):c.2830G>A (p.Glu944Lys)	KCNH5 (E944K)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 1488158	NM_139318.5(KCNH5):c.2829G>A (p.Ser943=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 530414	NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu)	KCNH5 (S943L)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GConflicting classifications of pathogenicity
Select item 530559	NM_139318.5(KCNH5):c.2826G>C (p.Leu942=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign
Select item 2048289	NM_139318.5(KCNH5):c.2825T>C (p.Leu942Pro)	KCNH5 (L942P)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2902999	NM_139318.5(KCNH5):c.2822T>C (p.Ile941Thr)	KCNH5 (I941T)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2552940	NM_139318.5(KCNH5):c.2817A>T (p.Leu939Phe)	KCNH5 (L939F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2415040	NM_139318.5(KCNH5):c.2817A>G (p.Leu939=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 530444	NM_139318.5(KCNH5):c.2812A>G (p.Ile938Val)	KCNH5 (I938V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2766369	NM_139318.5(KCNH5):c.2804T>C (p.Val935Ala)	KCNH5 (V935A)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2759228	NM_139318.5(KCNH5):c.2803G>A (p.Val935Met)	KCNH5 (V935M)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2759506	NM_139318.5(KCNH5):c.2797A>G (p.Lys933Glu)	KCNH5 (K933E)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2786489	NM_139318.5(KCNH5):c.2793A>G (p.Leu931=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2705881	NM_139318.5(KCNH5):c.2791C>G (p.Leu931Val)	KCNH5 (L931V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1587184	NM_139318.5(KCNH5):c.2789C>A (p.Ala930Asp)	KCNH5 (A930D)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 977409	NM_139318.5(KCNH5):c.2789C>T (p.Ala930Val)	KCNH5 (A930V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1356673	NM_139318.5(KCNH5):c.2788G>T (p.Ala930Ser)	KCNH5 (A930S)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2817547	NM_139318.5(KCNH5):c.2786C>G (p.Thr929Ser)	KCNH5 (T929S)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 581814	NM_139318.5(KCNH5):c.2782A>G (p.Met928Val)	KCNH5 (M928V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1612302	NM_139318.5(KCNH5):c.2769G>A (p.Leu923=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1719792	NM_139318.5(KCNH5):c.2761A>T (p.Ile921Phe)	KCNH5 (I921F)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2336483	NM_139318.5(KCNH5):c.2752A>G (p.Lys918Glu)	KCNH5 (K918E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2428026	NM_139318.5(KCNH5):c.2749C>T (p.Leu917Phe)	KCNH5 (L917F)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1528044	NM_139318.5(KCNH5):c.2748A>G (p.Glu916=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1586901	NM_139318.5(KCNH5):c.2745C>T (p.His915=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2829983	NM_139318.5(KCNH5):c.2734G>A (p.Glu912Lys)	KCNH5 (E912K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 750603	NM_139318.5(KCNH5):c.2730G>A (p.Leu910=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1394571	NM_139318.5(KCNH5):c.2725A>C (p.Thr909Pro)	KCNH5 (T909P)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2040161	NM_139318.5(KCNH5):c.2722A>T (p.Thr908Ser)	KCNH5 (T908S)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1657718	NM_139318.5(KCNH5):c.2716T>C (p.Leu906=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2098733	NM_139318.5(KCNH5):c.2707G>T (p.Glu903Ter)	KCNH5 (E903*)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530601	NM_139318.5(KCNH5):c.2706C>G (p.Pro902=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 530549	NM_139318.5(KCNH5):c.2706C>T (p.Pro902=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1383884	NM_139318.5(KCNH5):c.2704C>T (p.Pro902Ser)	KCNH5 (P902S)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1000405	NM_139318.5(KCNH5):c.2704C>G (p.Pro902Ala)	KCNH5 (P902A)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1575626	NM_139318.5(KCNH5):c.2691C>T (p.Pro897=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2913076	NM_139318.5(KCNH5):c.2690C>A (p.Pro897His)	KCNH5 (P897H)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1443980	NM_139318.5(KCNH5):c.2689C>T (p.Pro897Ser)	KCNH5 (P897S)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1014460	NM_139318.5(KCNH5):c.2686C>T (p.His896Tyr)	KCNH5 (H896Y)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1949415	NM_139318.5(KCNH5):c.2680G>A (p.Ala894Thr)	KCNH5 (A894T)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2134510	NM_139318.5(KCNH5):c.2677G>A (p.Asp893Asn)	KCNH5 (D893N)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1090797	NM_139318.5(KCNH5):c.2673G>A (p.Gln891=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 722096	NM_139318.5(KCNH5):c.2667C>T (p.Pro889=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3022041	NM_139318.5(KCNH5):c.2662A>G (p.Ser888Gly)	KCNH5 (S888G)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1596641	NM_139318.5(KCNH5):c.2661C>T (p.His887=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 530602	NM_139318.5(KCNH5):c.2652G>A (p.Pro884=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 1548335	NM_139318.5(KCNH5):c.2651C>T (p.Pro884Leu)	KCNH5 (P884L)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3364630	NM_139318.5(KCNH5):c.2647A>T (p.Ser883Cys)	KCNH5 (S883C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983570	NM_139318.5(KCNH5):c.2645G>A (p.Arg882Gln)	KCNH5 (R882Q)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 852236	NM_139318.5(KCNH5):c.2644C>T (p.Arg882Ter)	KCNH5 (R882*)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1346958	NM_139318.5(KCNH5):c.2642C>T (p.Ala881Val)	KCNH5 (A881V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2790527	NM_139318.5(KCNH5):c.2641G>A (p.Ala881Thr)	KCNH5 (A881T)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2744547	NM_139318.5(KCNH5):c.2641G>T (p.Ala881Ser)	KCNH5 (A881S)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2724575	NM_139318.5(KCNH5):c.2637G>A (p.Gly879=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1506844	NM_139318.5(KCNH5):c.2632G>T (p.Ala878Ser)	KCNH5 (A878S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 461393	NM_139318.5(KCNH5):c.2632G>A (p.Ala878Thr)	KCNH5 (A878T)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 1660720	NM_139318.5(KCNH5):c.2631G>A (p.Lys877=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign

<< First< Prev

Page of 8