ClinVar for Gene (Select 3756) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369994	NM_172362.3(KCNH1):c.2077C>G (p.Arg693Gly)	KCNH1 (R666G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365159	NM_172362.3(KCNH1):c.532G>T (p.Val178Phe)	KCNH1 (V178F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363844	NM_172362.3(KCNH1):c.2150A>G (p.Glu717Gly)	KCNH1 (E690G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361708	NM_172362.3(KCNH1):c.1268C>T (p.Ala423Val)	KCNH1 (A396V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360813	NM_172362.3(KCNH1):c.2579A>G (p.Glu860Gly)	KCNH1 (E833G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353774	NM_172362.3(KCNH1):c.217G>A (p.Glu73Lys)	KCNH1 (E73K)	Single nucleotide variant (missense variant)	KCNH1-related disorder	GUncertain significance
Select item 3348716	NM_172362.3(KCNH1):c.1186A>G (p.Ile396Val)	KCNH1 (I369V +1 more)	Single nucleotide variant (missense variant)	KCNH1-related disorder	GUncertain significance
Select item 3343612	NM_172362.3(KCNH1):c.565C>T (p.Gln189Ter)	KCNH1 (Q189*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3343570	NM_172362.3(KCNH1):c.2245G>C (p.Glu749Gln)	KCNH1 (E722Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340366	NM_172362.3(KCNH1):c.1474G>A (p.Ala492Thr)	KCNH1 (A465T +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3336896	NM_172362.3(KCNH1):c.620C>G (p.Pro207Arg)	KCNH1 (P207R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287575	NM_172362.3(KCNH1):c.1276A>G (p.Ile426Val)	KCNH1 (I399V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3248031	NC_000001.10:g.(?_211186121)_(211192575_?)del	KCNH1	Deletion	not provided	GUncertain significance
Select item 3248030	NC_000001.10:g.(?_210856623)_(211307287_?)dup	KCNH1	Duplication	not provided	GUncertain significance
Select item 3248028	NC_000001.10:g.(?_211092962)_(211192618_?)del	KCNH1	Deletion	not provided	GUncertain significance
Select item 3234026	NM_172362.3(KCNH1):c.1201G>C (p.Gly401Arg)	KCNH1 (G374R +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome	GUncertain significance
Select item 3113204	NM_172362.3(KCNH1):c.542A>T (p.His181Leu)	KCNH1 (H181L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113203	NM_172362.3(KCNH1):c.2603C>A (p.Ala868Glu)	KCNH1 (A868E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113201	NM_172362.3(KCNH1):c.1662+3_1662+5del	KCNH1	Deletion (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3064695	NM_172362.3(KCNH1):c.115G>T (p.Asp39Tyr)	KCNH1 (D39Y)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GUncertain significance
Select item 3061252	NM_172362.3(KCNH1):c.2358C>A (p.Ser786Arg)	KCNH1 (S759R +1 more)	Single nucleotide variant (missense variant)	KCNH1-related disorder	GUncertain significance
Select item 3042991	NM_172362.3(KCNH1):c.80-7_80-6dup	KCNH1	Duplication (intron variant)	KCNH1-related disorder	GBenign
Select item 3040621	NM_172362.3(KCNH1):c.67C>A (p.Arg23=)	KCNH1	Single nucleotide variant (synonymous variant)	KCNH1-related disorder	GLikely benign
Select item 3032921	NM_172362.3(KCNH1):c.625A>G (p.Ile209Val)	KCNH1 (I209V)	Single nucleotide variant (missense variant)	KCNH1-related disorder	GUncertain significance
Select item 3032449	NM_172362.3(KCNH1):c.212A>G (p.Tyr71Cys)	KCNH1 (Y71C)	Single nucleotide variant (missense variant)	KCNH1-related disorder	GUncertain significance
Select item 3023789	NM_172362.3(KCNH1):c.1032+5A>C	KCNH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3022118	NM_172362.3(KCNH1):c.440-3C>T	KCNH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3017776	NM_172362.3(KCNH1):c.2662G>A (p.Asp888Asn)	KCNH1 (D888N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017393	NM_172362.3(KCNH1):c.1916-4T>A	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015038	NM_172362.3(KCNH1):c.475A>G (p.Thr159Ala)	KCNH1 (T159A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013490	NM_172362.3(KCNH1):c.1108C>A (p.His370Asn)	KCNH1 (H370N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011322	NM_172362.3(KCNH1):c.1663-14C>T	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002926	NM_172362.3(KCNH1):c.1916-8C>T	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998577	NM_172362.3(KCNH1):c.2253G>A (p.Arg751=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998350	NM_172362.3(KCNH1):c.1234A>G (p.Thr412Ala)	KCNH1 (T385A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997721	NM_172362.3(KCNH1):c.2408C>G (p.Ala803Gly)	KCNH1 (A776G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991372	NM_172362.3(KCNH1):c.2620C>A (p.Leu874Met)	KCNH1 (L874M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982991	NM_172362.3(KCNH1):c.964del (p.Met322fs)	KCNH1 (M322fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2980023	NM_172362.3(KCNH1):c.2707C>G (p.Arg903Gly)	KCNH1 (R876G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978855	NM_172362.3(KCNH1):c.1462+5G>A	KCNH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2975371	NM_172362.3(KCNH1):c.1222G>A (p.Glu408Lys)	KCNH1 (E381K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974431	NM_172362.3(KCNH1):c.798G>A (p.Val266=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972634	NM_172362.3(KCNH1):c.618C>A (p.Pro206=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971315	NM_172362.3(KCNH1):c.1938T>G (p.Asp646Glu)	KCNH1 (D646E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969830	NM_172362.3(KCNH1):c.439+13G>A	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967324	NM_172362.3(KCNH1):c.2553C>T (p.Asn851=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965703	NM_172362.3(KCNH1):c.1350C>T (p.Tyr450=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964634	NM_172362.3(KCNH1):c.2905G>T (p.Glu969Ter)	KCNH1 (E969* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2960625	NM_172362.3(KCNH1):c.439+16T>G	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956311	NM_172362.3(KCNH1):c.1812A>T (p.Pro604=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955633	NM_172362.3(KCNH1):c.2343C>T (p.Ser781=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919130	NM_172362.3(KCNH1):c.239T>C (p.Ile80Thr)	KCNH1 (I80T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2918046	NM_172362.3(KCNH1):c.2211C>G (p.Val737=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917719	NM_172362.3(KCNH1):c.1463-16T>C	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917305	NM_172362.3(KCNH1):c.1695C>T (p.Ala565=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915988	NM_172362.3(KCNH1):c.2123G>A (p.Arg708Gln)	KCNH1 (R708Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915078	NM_172362.3(KCNH1):c.903G>A (p.Leu301=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913982	NM_172362.3(KCNH1):c.1850G>T (p.Ser617Ile)	KCNH1 (S590I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913515	NM_172362.3(KCNH1):c.558+17A>G	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913274	NM_172362.3(KCNH1):c.2335A>C (p.Asn779His)	KCNH1 (N752H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910274	NM_172362.3(KCNH1):c.262G>A (p.Glu88Lys)	KCNH1 (E88K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909785	NM_172362.3(KCNH1):c.2892_2893del (p.Gln965fs)	KCNH1 (Q938fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2909221	NM_172362.3(KCNH1):c.1059A>G (p.Leu353=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907900	NM_172362.3(KCNH1):c.79+11C>T	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905841	NM_172362.3(KCNH1):c.1463-20C>A	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904367	NM_172362.3(KCNH1):c.2310T>C (p.Asn770=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897875	NM_172362.3(KCNH1):c.2669G>A (p.Arg890His)	KCNH1 (R890H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897578	NM_172362.3(KCNH1):c.2733G>A (p.Lys911=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894243	NM_172362.3(KCNH1):c.1115T>C (p.Ile372Thr)	KCNH1 (I372T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893829	NM_172362.3(KCNH1):c.646T>C (p.Phe216Leu)	KCNH1 (F216L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891875	NM_172362.3(KCNH1):c.618C>T (p.Pro206=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889520	NM_172362.3(KCNH1):c.2113-7T>C	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887811	NM_172362.3(KCNH1):c.2385C>T (p.Ala795=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887217	NM_172362.3(KCNH1):c.249G>A (p.Val83=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886635	NM_172362.3(KCNH1):c.1257G>A (p.Leu419=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886265	NM_172362.3(KCNH1):c.2851C>T (p.Leu951Phe)	KCNH1 (L924F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884741	NM_172362.3(KCNH1):c.171G>A (p.Arg57=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882258	NM_172362.3(KCNH1):c.2637G>A (p.Ser879=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881330	NM_172362.3(KCNH1):c.2365A>G (p.Thr789Ala)	KCNH1 (T789A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881130	NM_172362.3(KCNH1):c.2113-6C>A	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879631	NM_172362.3(KCNH1):c.2586T>A (p.Leu862=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877967	NM_172362.3(KCNH1):c.2113-8C>G	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877090	NM_172362.3(KCNH1):c.2927C>T (p.Pro976Leu)	KCNH1 (P976L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876744	NM_172362.3(KCNH1):c.271G>A (p.Glu91Lys)	KCNH1 (E91K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875597	NM_172362.3(KCNH1):c.2832G>A (p.Met944Ile)	KCNH1 (M917I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875373	NM_172362.3(KCNH1):c.1915+6T>C	KCNH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2871716	NM_172362.3(KCNH1):c.79+17G>A	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867468	NM_172362.3(KCNH1):c.1546C>A (p.Leu516Ile)	KCNH1 (L516I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867204	NM_172362.3(KCNH1):c.2309A>G (p.Asn770Ser)	KCNH1 (N743S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865886	NM_172362.3(KCNH1):c.2511G>C (p.Trp837Cys)	KCNH1 (W810C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858450	NM_172362.3(KCNH1):c.1124G>A (p.Gly375Glu)	KCNH1 (G375E +1 more)	Single nucleotide variant (missense variant)	KCNH1 associated disorder +1 more	GPathogenic/Likely pathogenic
Select item 2857644	NM_172362.3(KCNH1):c.2905G>A (p.Glu969Lys)	KCNH1 (E969K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857231	NM_172362.3(KCNH1):c.931G>T (p.Ala311Ser)	KCNH1 (A311S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856695	NM_172362.3(KCNH1):c.1662+5G>A	KCNH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2856436	NM_172362.3(KCNH1):c.2169A>G (p.Arg723=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855696	NM_172362.3(KCNH1):c.1654A>G (p.Thr552Ala)	KCNH1 (T525A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855327	NM_172362.3(KCNH1):c.559-16A>G	KCNH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852892	NM_172362.3(KCNH1):c.2666T>C (p.Leu889Ser)	KCNH1 (L862S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847909	NM_172362.3(KCNH1):c.447del (p.Lys150fs)	KCNH1 (K150fs)	Deletion (frameshift variant)	not provided	GUncertain significance

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