KCNH3[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 992280	NM_012284.3(KCNH3):c.74C>T (p.Thr25Met)	KCNH3 (T25M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2460918	NM_012284.3(KCNH3):c.251G>A (p.Arg84His)	KCNH3 (R84H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552983	NM_012284.3(KCNH3):c.457C>T (p.Arg153Cys)	KCNH3, LOC126861521 (R93C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113219	NM_012284.3(KCNH3):c.472G>A (p.Ala158Thr)	KCNH3, LOC126861521 (A98T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286645	NM_012284.3(KCNH3):c.484G>A (p.Gly162Ser)	KCNH3, LOC126861521 (G102S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270268	NM_012284.3(KCNH3):c.535G>A (p.Gly179Arg)	KCNH3, LOC126861521 (G179R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621127	NM_012284.3(KCNH3):c.560G>A (p.Gly187Asp)	KCNH3, LOC126861521 (G127D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388689	NM_012284.3(KCNH3):c.640C>T (p.Pro214Ser)	KCNH3, LOC126861521 (P154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406602	NM_012284.3(KCNH3):c.736G>A (p.Val246Met)	KCNH3, LOC126861521 (V246M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268619	NM_012284.3(KCNH3):c.775G>A (p.Gly259Ser)	KCNH3, LOC126861521 (G199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1290430	NM_012284.3(KCNH3):c.939A>G (p.Ala313=)	KCNH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747981	NM_012284.3(KCNH3):c.1068C>T (p.Ser356=)	KCNH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2361733	NM_012284.3(KCNH3):c.1069G>A (p.Ala357Thr)	KCNH3 (A297T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337609	NM_012284.3(KCNH3):c.1073T>C (p.Val358Ala)	KCNH3 (V358A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713125	NM_012284.3(KCNH3):c.1110C>T (p.Leu370=)	KCNH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2254431	NM_012284.3(KCNH3):c.1129G>A (p.Val377Ile)	KCNH3 (V317I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606819	NM_012284.3(KCNH3):c.1151G>A (p.Arg384Gln)	KCNH3 (R324Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594994	NM_012284.3(KCNH3):c.1168G>A (p.Glu390Lys)	KCNH3 (E390K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341658	NM_012284.3(KCNH3):c.1187T>C (p.Ile396Thr)	KCNH3 (I336T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300360	NM_012284.3(KCNH3):c.1222A>T (p.Thr408Ser)	KCNH3 (T408S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113210	NM_012284.3(KCNH3):c.1237G>C (p.Val413Leu)	KCNH3 (V353L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211239	NM_012284.3(KCNH3):c.1256G>C (p.Gly419Ala)	KCNH3 (G359A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532721	NM_012284.3(KCNH3):c.1295G>A (p.Ser432Asn)	KCNH3 (S432N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611280	NM_012284.3(KCNH3):c.1649A>G (p.Asn550Ser)	KCNH3 (N490S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272733	NM_012284.3(KCNH3):c.1798C>T (p.Pro600Ser)	KCNH3 (P540S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244288	NM_012284.3(KCNH3):c.1910C>T (p.Ala637Val)	KCNH3 (A637V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747982	NM_012284.3(KCNH3):c.1919-9T>C	KCNH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783658	NM_012284.3(KCNH3):c.2004C>T (p.Cys668=)	KCNH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3113211	NM_012284.3(KCNH3):c.2126G>C (p.Gly709Ala)	KCNH3 (G709A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536516	NM_012284.3(KCNH3):c.2129C>G (p.Ser710Cys)	KCNH3 (S710C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113212	NM_012284.3(KCNH3):c.2219C>T (p.Thr740Met)	KCNH3 (T740M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257483	NM_012284.3(KCNH3):c.2240A>C (p.Asp747Ala)	KCNH3 (D687A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341639	NM_012284.3(KCNH3):c.2246C>T (p.Pro749Leu)	KCNH3 (P749L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321992	NM_012284.3(KCNH3):c.2315G>A (p.Arg772Gln)	KCNH3 (R712Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287585	NM_012284.3(KCNH3):c.2326C>T (p.Arg776Trp)	KCNH3 (R716W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233862	NM_012284.3(KCNH3):c.2333G>A (p.Arg778His)	KCNH3 (R718H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517734	NM_012284.3(KCNH3):c.2395G>A (p.Ala799Thr)	KCNH3 (A799T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208223	NM_012284.3(KCNH3):c.2498G>C (p.Gly833Ala)	KCNH3 (G833A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349525	NM_012284.3(KCNH3):c.2501C>T (p.Ser834Leu)	KCNH3 (S834L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287582	NM_012284.3(KCNH3):c.2524C>T (p.Arg842Cys)	KCNH3 (R782C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521133	NM_012284.3(KCNH3):c.2525G>A (p.Arg842His)	KCNH3 (R782H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514685	NM_012284.3(KCNH3):c.2578A>C (p.Ser860Arg)	KCNH3 (S800R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113214	NM_012284.3(KCNH3):c.2581G>A (p.Gly861Ser)	KCNH3 (G861S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613665	NM_012284.3(KCNH3):c.2645G>A (p.Arg882Gln)	KCNH3 (R822Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368984	NM_012284.3(KCNH3):c.2740A>G (p.Arg914Gly)	KCNH3 (R914G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399295	NM_012284.3(KCNH3):c.2777C>T (p.Pro926Leu)	KCNH3 (P866L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517703	NM_012284.3(KCNH3):c.2786C>T (p.Ala929Val)	KCNH3 (A929V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735166	NM_012284.3(KCNH3):c.2796C>T (p.Ser932=)	KCNH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3113215	NM_012284.3(KCNH3):c.2797G>C (p.Gly933Arg)	KCNH3 (G873R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386403	NM_012284.3(KCNH3):c.2804T>A (p.Leu935Gln)	KCNH3 (L935Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368986	NM_012284.3(KCNH3):c.2887C>T (p.His963Tyr)	KCNH3 (H903Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113216	NM_012284.3(KCNH3):c.2984C>T (p.Thr995Ile)	KCNH3 (T935I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287584	NM_012284.3(KCNH3):c.3059C>T (p.Pro1020Leu)	KCNH3 (P960L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463396	NM_012284.3(KCNH3):c.3065A>G (p.Glu1022Gly)	KCNH3 (E962G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558769	NM_012284.3(KCNH3):c.3088G>A (p.Ala1030Thr)	KCNH3 (A1030T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113217	NM_012284.3(KCNH3):c.3139G>A (p.Gly1047Arg)	KCNH3 (G1047R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621222	NM_012284.3(KCNH3):c.3146G>A (p.Gly1049Glu)	KCNH3 (G1049E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555838	NM_012284.3(KCNH3):c.3148G>A (p.Gly1050Ser)	KCNH3 (G990S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113218	NM_012284.3(KCNH3):c.3173A>C (p.His1058Pro)	KCNH3 (H998P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 66