ClinVar for Gene (Select 27133) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 695

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063336	GRCh37/hg19 14q23.2(chr14:62715828-63487534)x1	KCNH5	Copy number loss	not specified	GUncertain significance
Select item 3022647	NM_139318.5(KCNH5):c.1823-15T>C	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3022092	NM_139318.5(KCNH5):c.198-11T>C	KCNH5	Single nucleotide variant (intron variant)	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 3018038	NM_139318.5(KCNH5):c.1671G>A (p.Gly557=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3014644	NM_139318.5(KCNH5):c.1473C>T (p.Phe491=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3012999	NM_139318.5(KCNH5):c.885C>T (p.Ile295=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3002687	NM_139318.5(KCNH5):c.137G>T (p.Gly46Val)	KCNH5 (G46V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2998749	NM_139318.5(KCNH5):c.304+11C>T	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 2993552	NM_139318.5(KCNH5):c.558G>C (p.Gln186His)	KCNH5 (Q186H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2985541	NM_139318.5(KCNH5):c.2151G>A (p.Lys717=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2984641	NM_139318.5(KCNH5):c.2158C>T (p.Arg720Trp)	KCNH5 (R720W)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	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 2982721	NM_139318.5(KCNH5):c.2068C>G (p.Leu690Val)	KCNH5 (L690V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2977893	NM_139318.5(KCNH5):c.844A>G (p.Lys282Glu)	KCNH5 (K282E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 2967889	NM_139318.5(KCNH5):c.2463T>C (p.His821=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2967781	NM_139318.5(KCNH5):c.2509A>G (p.Met837Val)	KCNH5 (M837V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2963908	NM_139318.5(KCNH5):c.2063A>T (p.Glu688Val)	KCNH5 (E688V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2956028	NM_139318.5(KCNH5):c.888T>C (p.Asp296=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2918955	NM_139318.5(KCNH5):c.1893G>C (p.Arg631=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2918865	NM_139318.5(KCNH5):c.1187T>C (p.Ile396Thr)	KCNH5 (I396T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2916946	NM_139318.5(KCNH5):c.811G>C (p.Val271Leu)	KCNH5 (V271L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2916873	NM_139318.5(KCNH5):c.731A>G (p.Asn244Ser)	KCNH5 (N244S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	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 2913509	NM_139318.5(KCNH5):c.2029C>T (p.Arg677Cys)	KCNH5 (S611L +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 2911485	NM_139318.5(KCNH5):c.435T>G (p.Gly145=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 2904385	NM_139318.5(KCNH5):c.1927C>T (p.Arg643Trp)	KCNH5 (R643W)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2903551	NM_139318.5(KCNH5):c.1823-17C>G	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 2901970	NM_139318.5(KCNH5):c.2342C>T (p.Ala781Val)	KCNH5 (A781V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2900935	NM_139318.5(KCNH5):c.1369+14T>G	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2898334	NM_139318.5(KCNH5):c.1197A>G (p.Pro399=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2897030	NM_139318.5(KCNH5):c.188G>T (p.Ser63Ile)	KCNH5 (S63I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2894327	NM_139318.5(KCNH5):c.198-9C>T	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2894273	NM_139318.5(KCNH5):c.65G>A (p.Arg22His)	KCNH5 (R22H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2890548	NM_139318.5(KCNH5):c.2185C>G (p.Pro729Ala)	KCNH5 (P729A)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2882888	NM_139318.5(KCNH5):c.2133G>A (p.Gln711=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2879268	NM_139318.5(KCNH5):c.1712G>A (p.Cys571Tyr)	KCNH5 (C571Y)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2878004	NM_139318.5(KCNH5):c.942+16T>C	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2873362	NM_139318.5(KCNH5):c.2039G>T (p.Ser680Ile)	KCNH5 (S680I)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2871700	NM_139318.5(KCNH5):c.2321T>C (p.Leu774Pro)	KCNH5 (L774P)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2870947	NM_139318.5(KCNH5):c.2284C>G (p.Gln762Glu)	KCNH5 (Q762E)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2869318	NM_139318.5(KCNH5):c.568dup (p.Asp190fs)	KCNH5 (D190fs)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2864910	NM_139318.5(KCNH5):c.1959T>C (p.Tyr653=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2863041	NM_139318.5(KCNH5):c.1086G>T (p.Trp362Cys)	KCNH5 (W362C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2861864	NM_139318.5(KCNH5):c.247C>T (p.Gln83Ter)	KCNH5 (Q83*)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2858662	NM_139318.5(KCNH5):c.1649C>T (p.Ala550Val)	KCNH5 (A550V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2856289	NM_139318.5(KCNH5):c.1875T>C (p.His625=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2853944	NM_139318.5(KCNH5):c.394A>T (p.Thr132Ser)	KCNH5 (T132S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2853341	NM_139318.5(KCNH5):c.854G>A (p.Arg285Lys)	KCNH5 (R285K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2852738	NM_139318.5(KCNH5):c.2280C>A (p.Pro760=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2849379	NM_139318.5(KCNH5):c.74-7T>G	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2849146	NM_139318.5(KCNH5):c.646A>G (p.Thr216Ala)	KCNH5 (T216A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2848293	NM_139318.5(KCNH5):c.2217C>G (p.Arg739=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2847975	NM_139318.5(KCNH5):c.1340T>C (p.Met447Thr)	KCNH5 (M447T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2847887	NM_139318.5(KCNH5):c.2156T>C (p.Leu719Pro)	KCNH5 (L719P)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2847229	NM_139318.5(KCNH5):c.1071A>G (p.Gly357=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2847210	NM_139318.5(KCNH5):c.2446A>G (p.Asn816Asp)	KCNH5 (N816D)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2846392	NM_139318.5(KCNH5):c.2171C>T (p.Ser724Leu)	KCNH5 (S724L)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 2846348	NM_139318.5(KCNH5):c.2147A>C (p.Gln716Pro)	KCNH5 (Q716P)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2845775	NM_139318.5(KCNH5):c.1635T>A (p.Phe545Leu)	KCNH5 (F545L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2844958	NM_139318.5(KCNH5):c.53A>T (p.Asn18Ile)	KCNH5 (N18I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2844556	NM_139318.5(KCNH5):c.2029C>G (p.Arg677Gly)	KCNH5 (R677G +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2841834	NM_139318.5(KCNH5):c.1491C>T (p.Val497=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2835906	NM_139318.5(KCNH5):c.979C>A (p.Arg327Ser)	KCNH5 (R327S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2831079	NM_139318.5(KCNH5):c.330A>G (p.Gln110=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2829983	NM_139318.5(KCNH5):c.2734G>A (p.Glu912Lys)	KCNH5 (E912K)	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 2828897	NM_139318.5(KCNH5):c.550-15T>G	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2826328	NM_139318.5(KCNH5):c.1819T>C (p.Leu607=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2826105	NM_139318.5(KCNH5):c.2001T>C (p.Thr667=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2825926	NM_139318.5(KCNH5):c.918C>T (p.Ile306=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2820348	NM_139318.5(KCNH5):c.1823-11C>A	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2818642	NM_139318.5(KCNH5):c.282A>G (p.Glu94=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 2815132	NM_139318.5(KCNH5):c.2494A>C (p.Thr832Pro)	KCNH5 (T832P)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2812031	NM_139318.5(KCNH5):c.198-12T>C	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2811401	NM_139318.5(KCNH5):c.660G>A (p.Val220=)	KCNH5	Single nucleotide variant (synonymous variant)	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 2805982	NM_139318.5(KCNH5):c.2618T>C (p.Leu873Pro)	KCNH5 (L873P)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2805949	NM_139318.5(KCNH5):c.198-7C>G	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2805321	NM_139318.5(KCNH5):c.1654C>T (p.Arg552Ter)	KCNH5 (R552*)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2804973	NM_139318.5(KCNH5):c.1176G>T (p.Leu392=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2802548	NM_139318.5(KCNH5):c.2415T>C (p.Asn805=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2800233	NM_139318.5(KCNH5):c.919A>G (p.Asn307Asp)	KCNH5 (N307D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2798043	NM_139318.5(KCNH5):c.2019+7T>C	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2797459	NM_139318.5(KCNH5):c.859A>T (p.Asn287Tyr)	KCNH5 (N287Y)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2795908	NM_139318.5(KCNH5):c.2020-9G>A	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 2790510	NM_139318.5(KCNH5):c.1570-12C>T	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2790225	NM_139318.5(KCNH5):c.2359A>G (p.Asn787Asp)	KCNH5 (N787D)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2788044	NM_139318.5(KCNH5):c.1822+5T>C	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2787938	NM_139318.5(KCNH5):c.1929G>A (p.Arg643=)	KCNH5	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2786489	NM_139318.5(KCNH5):c.2793A>G (p.Leu931=)	KCNH5	Single nucleotide variant (3 prime UTR variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2786290	NM_139318.5(KCNH5):c.1280T>C (p.Met427Thr)	KCNH5 (M427T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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

<< First< Prev

Page of 7