"Color Diagnostics, LLC DBA Color Health"[submitter] AND "KCNH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 665237	NM_000238.4(KCNH2):c.3471G>A (p.Pro1157=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 67499	NM_000238.4(KCNH2):c.3470C>T (p.Pro1157Leu)	KCNH2 (P1157L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 456933	NM_000238.4(KCNH2):c.3469C>T (p.Pro1157Ser)	KCNH2 (P1157S +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 926485	NM_000238.4(KCNH2):c.3467A>G (p.Asp1156Gly)	KCNH2 (D1156G +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 67498	NM_000238.4(KCNH2):c.3460G>A (p.Gly1154Ser)	KCNH2 (G1154S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 456932	NM_000238.4(KCNH2):c.3459C>T (p.His1153=)	KCNH2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 67497	NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr)	KCNH2 (H1153Y +1 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +5 more	GUncertain significance
Select item 629472	NM_000238.4(KCNH2):c.3453C>A (p.His1151Gln)	KCNH2 (H811Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 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 2773414	NM_000238.4(KCNH2):c.3447C>G (p.Pro1149=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 359301	NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)	KCNH2 (T1146S +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GConflicting classifications of pathogenicity
Select item 2773415	NM_000238.4(KCNH2):c.3415C>T (p.Pro1139Ser)	KCNH2 (P799S +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 966027	NM_000238.4(KCNH2):c.3410C>A (p.Ser1137Tyr)	KCNH2 (S797Y +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	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 923242	NM_000238.4(KCNH2):c.3400C>T (p.Arg1134Ter)	KCNH2 (R794* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 629696	NM_000238.4(KCNH2):c.3399A>G (p.Thr1133=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 191469	NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala)	KCNH2 (P1132A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 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 +1 more	GUncertain significance
Select item 456930	NM_000238.4(KCNH2):c.3390A>G (p.Glu1130=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 923705	NM_000238.4(KCNH2):c.3379C>T (p.Leu1127Phe)	KCNH2 (L1127F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 920215	NM_000238.4(KCNH2):c.3361C>T (p.Pro1121Ser)	KCNH2 (P1121S +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 810208	NM_000238.4(KCNH2):c.3357G>A (p.Glu1119=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 67492	NM_000238.4(KCNH2):c.3355G>C (p.Glu1119Gln)	KCNH2 (E1119Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2759374	NM_000238.4(KCNH2):c.3348G>T (p.Ala1116=)	KCNH2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 200268	NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	not specified +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 918904	NM_000238.4(KCNH2):c.3346G>A (p.Ala1116Thr)	KCNH2 (A776T +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	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 923340	NM_000238.4(KCNH2):c.3339G>A (p.Gln1113=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 1123710	NM_000238.4(KCNH2):c.3333T>C (p.Val1111=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 200266	NM_000238.4(KCNH2):c.3331-13GT[2]	KCNH2	Microsatellite (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 67488	NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val)	KCNH2 (L1108V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
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 926697	NM_000238.4(KCNH2):c.3315G>C (p.Leu1105Phe)	KCNH2 (L765F +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
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 456928	NM_000238.4(KCNH2):c.3301C>T (p.Pro1101Ser)	KCNH2 (P761S +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 928123	NM_000238.4(KCNH2):c.3294C>G (p.Ser1098Arg)	KCNH2 (S1098R +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 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 provided +4 more	GUncertain significance
Select item 922153	NM_000238.4(KCNH2):c.3288C>T (p.Pro1096=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 921691	NM_000238.4(KCNH2):c.3286C>T (p.Pro1096Ser)	KCNH2 (P1096S +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 67485	NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu)	KCNH2 (P1093L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +4 more	GUncertain significance
Select item 926850	NM_000238.4(KCNH2):c.3276C>T (p.Ser1092=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 702873	NM_000238.4(KCNH2):c.3261C>T (p.Gly1087=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 922793	NM_000238.4(KCNH2):c.3255G>T (p.Gly1085=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 925812	NM_000238.4(KCNH2):c.3252G>A (p.Pro1084=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 456925	NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu)	KCNH2 (P1084L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 200529	NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala)	KCNH2 (T1083A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Long QT syndrome +3 more	GUncertain significance
Select item 413328	NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=)	KCNH2	Single nucleotide variant (synonymous variant)	KCNH2-related disorder +5 more	GBenign/Likely benign
Select item 743907	NM_000238.4(KCNH2):c.3225G>A (p.Pro1075=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 629130	NM_000238.4(KCNH2):c.3224C>A (p.Pro1075Gln)	KCNH2 (P1075Q +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 67481	NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu)	KCNH2 (P1075L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 237300	NM_000238.4(KCNH2):c.3216G>A (p.Thr1072=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 359303	NM_000238.4(KCNH2):c.3215C>T (p.Thr1072Met)	KCNH2 (T732M +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 629473	NM_000238.4(KCNH2):c.3211A>G (p.Met1071Val)	KCNH2 (M731V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 67480	NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg)	KCNH2 (Q1068R +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 924650	NM_000238.4(KCNH2):c.3178A>G (p.Met1060Val)	KCNH2 (M1060V +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 67475	NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln)	KCNH2 (R1055Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 628237	NM_000238.4(KCNH2):c.3162C>G (p.Thr1054=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GLikely benign
Select item 456923	NM_000238.4(KCNH2):c.3153-3C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 413324	NM_000238.4(KCNH2):c.3153-4C>T	KCNH2	Single nucleotide variant (intron variant)	Cardiac arrhythmia +5 more	GBenign/Likely benign
Select item 927584	NM_000238.4(KCNH2):c.3153-6C>T	KCNH2	Single nucleotide variant (intron variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 698353	NM_000238.4(KCNH2):c.3153-10C>A	KCNH2	Single nucleotide variant (intron variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 359304	NM_000238.4(KCNH2):c.3153-13C>T	KCNH2	Single nucleotide variant (intron variant)	Cardiac arrhythmia +1 more	GConflicting classifications of pathogenicity
Select item 200257	NM_000238.4(KCNH2):c.3153-15C>T	KCNH2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1172457	NM_000238.4(KCNH2):c.3152+4A>C	KCNH2	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GUncertain significance
Select item 628410	NM_000238.4(KCNH2):c.3140G>A (p.Arg1047His)	KCNH2 (R1047H +1 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +4 more	GUncertain significance
Select item 36429	NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)	KCNH2 (R1047L +1 more)	Single nucleotide variant (missense variant)	Sudden unexplained death +8 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)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 926330	NM_000238.4(KCNH2):c.3138G>T (p.Gln1046His)	KCNH2 (Q706H +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 67473	NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)	KCNH2 (L1045F +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GBenign
Select item 923802	NM_000238.4(KCNH2):c.3120C>T (p.Ser1040=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 67472	NM_000238.4(KCNH2):c.3118A>G (p.Ser1040Gly)	KCNH2 (S1040G +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GUncertain significance
Select item 405360	NM_000238.4(KCNH2):c.3112G>T (p.Val1038Leu)	KCNH2 (V1038L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 67471	NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)	KCNH2 (V1038M +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +6 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)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 67470	NM_000238.4(KCNH2):c.3109G>A (p.Asp1037Asn)	KCNH2 (D1037N +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
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 67469	NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)	KCNH2 (G1036D +1 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +6 more	GConflicting classifications of pathogenicity
Select item 2708814	NM_000238.4(KCNH2):c.3105G>A (p.Arg1035=)	KCNH2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GLikely benign
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 67468	NM_000238.4(KCNH2):c.3103C>T (p.Arg1035Trp)	KCNH2 (R1035W +1 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +5 more	GUncertain significance
Select item 1332333	NM_000238.4(KCNH2):c.3101_3102insGTCGCGGCC (p.Pro1034_Arg1035insSerArgPro)	KCNH2	Insertion (inframe_insertion)	Cardiac arrhythmia	GUncertain significance
Select item 402997	NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg)	KCNH2	Microsatellite (inframe_insertion)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 200699	NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs)	KCNH2 (P1034fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 456920	NM_000238.4(KCNH2):c.3098G>A (p.Arg1033Gln)	KCNH2 (R1033Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 925579	NM_000238.4(KCNH2):c.3091_3096dup (p.Gly1031_Arg1032dup)	KCNH2	Duplication (inframe_insertion)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 67467	NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp)	KCNH2 (R1033W +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 1171150	NM_000238.4(KCNH2):c.3095G>C (p.Arg1032Pro)	KCNH2 (R1032P +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 67466	NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln)	KCNH2 (R1032Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GUncertain significance
Select item 200522	NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp)	KCNH2 (R1032W +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 919480	NM_000238.4(KCNH2):c.3092G>A (p.Gly1031Asp)	KCNH2 (G691D +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 922286	NM_000238.4(KCNH2):c.3090G>C (p.Pro1030=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 517047	NM_000238.4(KCNH2):c.3090G>A (p.Pro1030=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GConflicting classifications of pathogenicity
Select item 2773416	NM_000238.4(KCNH2):c.3089C>A (p.Pro1030Gln)	KCNH2 (P690Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 847541	NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu)	KCNH2 (P690L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1114499	NM_000238.4(KCNH2):c.3081C>T (p.Leu1027=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 200254	NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile)	KCNH2 (L1027I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity

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