KCNH8[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 57700	GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3	BALR6, EFHB +39 more	Copy number gain	See cases	GUncertain significance
Select item 147343	GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1	EFHB, KAT2B +53 more	Copy number loss	See cases	GUncertain significance
Select item 2489010	NM_144633.3(KCNH8):c.88A>G (p.Ile30Val)	KCNH8 (I30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287628	NM_144633.3(KCNH8):c.131A>G (p.Tyr44Cys)	KCNH8 (Y44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219568	NM_144633.3(KCNH8):c.241C>G (p.Leu81Val)	KCNH8 (L81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113283	NM_144633.3(KCNH8):c.292A>G (p.Met98Val)	KCNH8 (M98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1700685	NM_144633.3(KCNH8):c.298T>C (p.Tyr100His)	KCNH8 (Y100H)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 3113290	NM_144633.3(KCNH8):c.335A>G (p.Asp112Gly)	KCNH8 (D112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113291	NM_144633.3(KCNH8):c.371T>C (p.Val124Ala)	KCNH8 (V124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264876	NM_144633.3(KCNH8):c.437A>G (p.Lys146Arg)	KCNH8 (K146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224713	NM_144633.3(KCNH8):c.490C>T (p.Arg164Trp)	KCNH8 (R164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597442	NM_144633.3(KCNH8):c.491G>A (p.Arg164Gln)	KCNH8 (R164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392726	NM_144633.3(KCNH8):c.503G>A (p.Arg168Gln)	KCNH8 (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524692	NM_144633.3(KCNH8):c.549G>T (p.Lys183Asn)	KCNH8 (K183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357233	NM_144633.3(KCNH8):c.549G>C (p.Lys183Asn)	KCNH8 (K183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456139	NM_144633.3(KCNH8):c.579T>A (p.Phe193Leu)	KCNH8 (F193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312057	NM_144633.3(KCNH8):c.644T>C (p.Leu215Pro)	KCNH8 (L215P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375170	NM_144633.3(KCNH8):c.830G>A (p.Arg277Gln)	KCNH8 (R277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113292	NM_144633.3(KCNH8):c.931C>A (p.Leu311Met)	KCNH8 (L311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113293	NM_144633.3(KCNH8):c.959A>G (p.Asn320Ser)	KCNH8 (N320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113294	NM_144633.3(KCNH8):c.992A>G (p.Lys331Arg)	KCNH8 (K331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113271	NM_144633.3(KCNH8):c.1028A>G (p.Gln343Arg)	KCNH8 (Q343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315410	NM_144633.3(KCNH8):c.1078A>T (p.Met360Leu)	KCNH8 (M360L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223172	NM_144633.3(KCNH8):c.1112C>T (p.Ala371Val)	KCNH8 (A371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287626	NM_144633.3(KCNH8):c.1187A>G (p.His396Arg)	KCNH8 (H396R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287620	NM_144633.3(KCNH8):c.1236G>T (p.Leu412Phe)	KCNH8 (L412F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332397	NM_144633.3(KCNH8):c.1307G>A (p.Gly436Asp)	KCNH8 (G436D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278098	NM_144633.3(KCNH8):c.1531T>G (p.Phe511Val)	KCNH8 (F511V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287623	NM_144633.3(KCNH8):c.1604G>A (p.Arg535His)	KCNH8, LOC126806624 (R535H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287625	NM_144633.3(KCNH8):c.1643A>T (p.Gln548Leu)	KCNH8, LOC126806624 (Q548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538773	NM_144633.3(KCNH8):c.1651C>G (p.Leu551Val)	KCNH8, LOC126806624 (L551V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791911	NM_144633.3(KCNH8):c.1722G>T (p.Pro574=)	KCNH8, LOC126806624	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3113273	NM_144633.3(KCNH8):c.1739G>A (p.Arg580His)	KCNH8, LOC126806624 (R580H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400529	NM_144633.3(KCNH8):c.1866C>A (p.Asp622Glu)	KCNH8 (D622E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770137	NM_144633.3(KCNH8):c.1924A>G (p.Ile642Val)	KCNH8 (I642V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2394050	NM_144633.3(KCNH8):c.2000A>G (p.His667Arg)	KCNH8 (H667R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113274	NM_144633.3(KCNH8):c.2009C>G (p.Thr670Arg)	KCNH8 (T670R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287622	NM_144633.3(KCNH8):c.2047T>C (p.Ser683Pro)	KCNH8 (S683P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113275	NM_144633.3(KCNH8):c.2056T>C (p.Ser686Pro)	KCNH8 (S686P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612363	NM_144633.3(KCNH8):c.2097T>A (p.Asn699Lys)	KCNH8 (N699K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330046	NM_144633.3(KCNH8):c.2137G>A (p.Glu713Lys)	KCNH8 (E713K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494759	NM_144633.3(KCNH8):c.2203T>A (p.Ser735Thr)	KCNH8 (S735T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598614	NM_144633.3(KCNH8):c.2212C>T (p.Arg738Cys)	KCNH8 (R738C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245123	NM_144633.3(KCNH8):c.2273C>T (p.Ser758Leu)	KCNH8 (S758L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653623	NM_144633.3(KCNH8):c.2280G>A (p.Thr760=)	KCNH8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3287621	NM_144633.3(KCNH8):c.2299A>C (p.Ile767Leu)	KCNH8 (I767L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246643	NM_144633.3(KCNH8):c.2308T>C (p.Ser770Pro)	KCNH8 (S770P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287627	NM_144633.3(KCNH8):c.2351C>G (p.Pro784Arg)	KCNH8 (P784R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113276	NM_144633.3(KCNH8):c.2357A>G (p.His786Arg)	KCNH8 (H786R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113277	NM_144633.3(KCNH8):c.2425C>T (p.Leu809Phe)	KCNH8 (L809F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570136	NM_144633.3(KCNH8):c.2482A>G (p.Thr828Ala)	KCNH8 (T828A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113278	NM_144633.3(KCNH8):c.2486T>C (p.Phe829Ser)	KCNH8 (F829S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287631	NM_144633.3(KCNH8):c.2575A>G (p.Lys859Glu)	KCNH8 (K859E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113279	NM_144633.3(KCNH8):c.2654G>T (p.Gly885Val)	KCNH8 (G885V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408702	NM_144633.3(KCNH8):c.2664G>A (p.Met888Ile)	KCNH8 (M888I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113280	NM_144633.3(KCNH8):c.2692G>A (p.Val898Ile)	KCNH8 (V898I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113281	NM_144633.3(KCNH8):c.2786G>T (p.Ser929Ile)	KCNH8 (S929I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262137	NM_144633.3(KCNH8):c.2795A>G (p.Gln932Arg)	KCNH8 (Q932R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256106	NM_144633.3(KCNH8):c.2821G>A (p.Gly941Arg)	KCNH8 (G941R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222654	NM_144633.3(KCNH8):c.2839G>C (p.Ala947Pro)	KCNH8 (A947P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113282	NM_144633.3(KCNH8):c.2880T>G (p.Ser960Arg)	KCNH8 (S960R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588386	NM_144633.3(KCNH8):c.2890T>A (p.Ser964Thr)	KCNH8 (S964T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113285	NM_144633.3(KCNH8):c.2938C>T (p.Pro980Ser)	KCNH8 (P980S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791912	NM_144633.3(KCNH8):c.2950G>C (p.Glu984Gln)	KCNH8 (E984Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2368055	NM_144633.3(KCNH8):c.2999T>A (p.Val1000Asp)	KCNH8 (V1000D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488203	NM_144633.3(KCNH8):c.3014A>G (p.His1005Arg)	KCNH8 (H1005R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113286	NM_144633.3(KCNH8):c.3095C>A (p.Ser1032Tyr)	KCNH8 (S1032Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287624	NM_144633.3(KCNH8):c.3127C>T (p.His1043Tyr)	KCNH8 (H1043Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113287	NM_144633.3(KCNH8):c.3142A>T (p.Ser1048Cys)	KCNH8 (S1048C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113288	NM_144633.3(KCNH8):c.3155A>C (p.Glu1052Ala)	KCNH8 (E1052A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113289	NM_144633.3(KCNH8):c.3275T>C (p.Val1092Ala)	KCNH8 (V1092A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1330209	GRCh37/hg19 3p24.3(chr3:18004128-19575641)x1	KCNH8, SATB1	Copy number loss	Developmental delay with dysmorphic facies and dental anomalies	GPathogenic
Select item 814424	GRCh37/hg19 3p24.3(chr3:18533122-19304173)x3	KCNH8	Copy number gain	not provided	GUncertain significance
Select item 687662	GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1	EFHB, KAT2B +15 more	Copy number loss	not provided	GPathogenic
Select item 685847	GRCh37/hg19 3p24.3(chr3:19483318-19577689)x3	KCNH8	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442060	GRCh37/hg19 3p24.3(chr3:19184725-19545461)x1	KCNH8	Copy number loss	See cases	GUncertain significance
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 97