"GeneDx"[submitter] AND "KCNH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 910580	NM_000238.4(KCNH2):c.*190C>T	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2 +1 more	GBenign/Likely benign
Select item 359299	NM_000238.4(KCNH2):c.*112C>T	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2 +1 more	GLikely benign
Select item 386840	NM_000238.4(KCNH2):c.*17G>C	KCNH2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 359300	NM_000238.4(KCNH2):c.*15G>A	KCNH2	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign/Likely benign
Select item 200713	NM_000238.4(KCNH2):c.3470dup (p.Ser1159fs)	KCNH2 (S1159fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 67499	NM_000238.4(KCNH2):c.3470C>T (p.Pro1157Leu)	KCNH2 (P1157L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 67498	NM_000238.4(KCNH2):c.3460G>A (p.Gly1154Ser)	KCNH2 (G1154S +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 67497	NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr)	KCNH2 (H1153Y +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 456931	NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met)	KCNH2 (L810M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1304543	NM_000238.4(KCNH2):c.3403_3406dup (p.Leu1136fs)	KCNH2 (L1136fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 920427	NM_000238.4(KCNH2):c.3403C>T (p.Arg1135Cys)	KCNH2 (R795C +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 918364	NM_000238.4(KCNH2):c.3392G>T (p.Gly1131Val)	KCNH2 (G1131V +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 456930	NM_000238.4(KCNH2):c.3390A>G (p.Glu1130=)	KCNH2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2505027	NM_000238.4(KCNH2):c.3368G>C (p.Gly1123Ala)	KCNH2 (G1027A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 945617	NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs)	KCNH2 (A1124fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 377961	NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=)	KCNH2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 200534	NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu)	KCNH2 (P1122L +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GUncertain significance
Select item 200268	NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +4 more	GBenign/Likely benign
Select item 67491	NM_000238.4(KCNH2):c.3347C>T (p.Ala1116Val)	KCNH2 (A1116V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 67490	NM_000238.4(KCNH2):c.3343A>G (p.Met1115Val)	KCNH2 (M1115V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 200266	NM_000238.4(KCNH2):c.3331-13GT[2]	KCNH2	Microsatellite (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 200264	NM_000238.4(KCNH2):c.3331-13del	KCNH2	Deletion (intron variant)	Cardiac arrhythmia	GBenign
Select item 200260	NM_000238.4(KCNH2):c.3331-14del	KCNH2	Deletion (intron variant)	Cardiac arrhythmia	GBenign
Select item 1271652	NM_000238.4(KCNH2):c.3330+22T>C	KCNH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 456929	NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=)	KCNH2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 200531	NM_000238.4(KCNH2):c.3305C>T (p.Thr1102Ile)	KCNH2 (T1102I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 67486	NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile)	KCNH2 (V1097I +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 422553	NM_000238.4(KCNH2):c.3255del (p.Pro1086fs)	KCNH2 (P1086fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 200711	NM_000238.4(KCNH2):c.3251dup (p.Pro1086fs)	KCNH2 (P746fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 200529	NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala)	KCNH2 (T1083A +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +5 more	GUncertain significance
Select item 526983	NM_000238.4(KCNH2):c.3229G>A (p.Ala1077Thr)	KCNH2 (A1077T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 413328	NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=)	KCNH2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 67480	NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg)	KCNH2 (Q1068R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 372942	NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs)	KCNH2 (Q1068fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 67475	NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln)	KCNH2 (R1055Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 628237	NM_000238.4(KCNH2):c.3162C>G (p.Thr1054=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GLikely benign
Select item 413324	NM_000238.4(KCNH2):c.3153-4C>T	KCNH2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 378944	NM_000238.4(KCNH2):c.3153-9C>T	KCNH2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 698353	NM_000238.4(KCNH2):c.3153-10C>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GLikely benign
Select item 200257	NM_000238.4(KCNH2):c.3153-15C>T	KCNH2	Single nucleotide variant (intron variant)	Cardiac arrhythmia +3 more	GBenign
Select item 1192155	NM_000238.4(KCNH2):c.3153-59C>G	KCNH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 359305	NM_000238.4(KCNH2):c.3152+12C>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 373047	NM_000238.4(KCNH2):c.3152+2T>C	KCNH2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 373026	NM_000238.4(KCNH2):c.3152+1G>T	KCNH2	Single nucleotide variant (splice donor variant)	Long QT syndrome +1 more	GPathogenic/Likely pathogenic
Select item 36429	NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)	KCNH2 (R1047L +1 more)	Single nucleotide variant (missense variant)	Torsades de pointes +7 more	GConflicting classifications of pathogenicity
Select item 161255	NM_000238.4(KCNH2):c.3139C>T (p.Arg1047Cys)	KCNH2 (R1047C +2 more)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome type 1 +4 more	GUncertain significance
Select item 817602	NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs)	KCNH2 (L1045fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 200709	NM_000238.4(KCNH2):c.3136del (p.Gln1046fs)	KCNH2 (Q1046fs +1 more)	Deletion (frameshift variant)	Cardiac arrhythmia	GPathogenic
Select item 200707	NM_000238.4(KCNH2):c.3112_3129delinsCA (p.Val1038fs)	KCNH2 (V1038fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 200526	NM_000238.4(KCNH2):c.3119G>A (p.Ser1040Asn)	KCNH2 (S1040N +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 503659	NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs)	KCNH2 (V1038fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 200705	NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs)	KCNH2 (V1038fs +1 more)	Duplication (frameshift variant)	Cardiac arrhythmia +1 more	GPathogenic
Select item 420585	NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs)	KCNH2 (P1034fs +1 more)	Deletion (frameshift variant)	Cardiac arrhythmia +2 more	GPathogenic/Likely pathogenic
Select item 67471	NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)	KCNH2 (V1038M +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 194157	NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 200697	NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs)	KCNH2 (P694fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 523953	NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs)	KCNH2 (D1037fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 385123	NM_000238.4(KCNH2):c.3108C>T (p.Gly1036=)	KCNH2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 372571	NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs)	KCNH2 (D697fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 200803	NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs)	KCNH2 (D1037fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 200703	NM_000238.4(KCNH2):c.3104_3107dup (p.Asp1037fs)	KCNH2 (D1037fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 200801	NM_000238.4(KCNH2):c.3107del (p.Gly1036fs)	KCNH2 (G1036fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 67469	NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)	KCNH2 (G1036D +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +6 more	GConflicting classifications of pathogenicity
Select item 503672	NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs)	KCNH2 (P1034fs +1 more)	Deletion (frameshift variant)	Long QT syndrome +1 more	GPathogenic
Select item 456922	NM_000238.4(KCNH2):c.3104G>A (p.Arg1035Gln)	KCNH2 (R695Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 200701	NM_000238.4(KCNH2):c.3103del (p.Arg1035fs)	KCNH2 (R695fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 67468	NM_000238.4(KCNH2):c.3103C>T (p.Arg1035Trp)	KCNH2 (R1035W +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 402997	NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg)	KCNH2	Microsatellite (inframe_insertion)	not provided +6 more	GUncertain significance
Select item 200699	NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs)	KCNH2 (P1034fs +1 more)	Duplication (frameshift variant)	Cardiac arrhythmia +2 more	GPathogenic
Select item 456919	NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs)	KCNH2 (P694fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 372378	NM_000238.4(KCNH2):c.3099del (p.Arg1035fs)	KCNH2 (R695fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 387430	NM_000238.4(KCNH2):c.3097C>A (p.Arg1033=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 67467	NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp)	KCNH2 (R1033W +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 519348	NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs)	KCNH2 (R1032fs +1 more)	Duplication (frameshift variant)	Long QT syndrome +2 more	GPathogenic/Likely pathogenic
Select item 219924	NM_000238.4(KCNH2):c.3094del (p.Arg1032fs)	KCNH2 (R1032fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 517047	NM_000238.4(KCNH2):c.3090G>A (p.Pro1030=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 847541	NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu)	KCNH2 (P690L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 545950	NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs)	KCNH2 (P690fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 200695	NM_000238.4(KCNH2):c.3079dup (p.Leu1027fs)	KCNH2 (L1027fs +1 more)	Duplication (frameshift variant)	Cardiac arrhythmia	GPathogenic
Select item 200254	NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile)	KCNH2 (L1027I +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 923837	NM_000238.4(KCNH2):c.3064CTC[1] (p.Leu1023del)	KCNH2 (L1023del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 519304	NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=)	KCNH2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 423015	NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs)	KCNH2 (S1021fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 219597	NM_000238.4(KCNH2):c.3060del (p.Ser1021fs)	KCNH2 (S681fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1320660	NM_000238.4(KCNH2):c.3054C>T (p.Pro1018=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 200520	NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala)	KCNH2 (P1018A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 565852	NM_000238.4(KCNH2):c.3049G>T (p.Ala1017Ser)	KCNH2 (A1017S +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 629393	NM_000238.4(KCNH2):c.3048C>T (p.Pro1016=)	KCNH2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 922413	NM_000238.4(KCNH2):c.3041G>A (p.Arg1014Gln)	KCNH2 (R1014Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 200518	NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)	KCNH2 (R1014* +1 more)	Single nucleotide variant (nonsense)	Congenital long QT syndrome +3 more	GPathogenic
Select item 1191999	NM_000238.4(KCNH2):c.3032del (p.Glu1011fs)	KCNH2 (E1011fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 379293	NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter)	KCNH2 (Y1009* +1 more)	Single nucleotide variant (nonsense)	Long QT syndrome +1 more	GPathogenic
Select item 1968021	NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter)	KCNH2 (Q668* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 918739	NM_000238.4(KCNH2):c.3019C>T (p.Arg1007Cys)	KCNH2 (R667C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 200799	NM_000238.4(KCNH2):c.3017del (p.Gly1006fs)	KCNH2 (G1006fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic

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