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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417346	NC_000007.14:g.(?_150944956)_(150959736_?)del	KCNH2	Deletion	Long QT syndrome	GPathogenic
Select item 417345	NC_000007.14:g.(?_150944956)_(150978314_?)del	KCNH2, LOC110121275 +3 more	Deletion	Long QT syndrome	GPathogenic
Select item 646391	NC_000007.13:g.(?_150642433)_(150675021_?)dup	KCNH2, LOC110121275 +3 more	Duplication	Long QT syndrome	GUncertain significance
Select item 939464	NM_000238.4(KCNH2):c.3473G>C (p.Gly1158Ala)	KCNH2 (G818A +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1640911	NM_000238.4(KCNH2):c.3471G>C (p.Pro1157=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
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)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 456933	NM_000238.4(KCNH2):c.3469C>T (p.Pro1157Ser)	KCNH2 (P1157S +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 1957007	NM_000238.4(KCNH2):c.3466G>T (p.Asp1156Tyr)	KCNH2 (D1156Y +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1394476	NM_000238.4(KCNH2):c.3466G>C (p.Asp1156His)	KCNH2 (D1156H +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 527048	NM_000238.4(KCNH2):c.3465G>A (p.Ser1155=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 580441	NM_000238.4(KCNH2):c.3464C>T (p.Ser1155Leu)	KCNH2 (S815L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2828888	NM_000238.4(KCNH2):c.3460G>T (p.Gly1154Cys)	KCNH2 (G1058C +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 67498	NM_000238.4(KCNH2):c.3460G>A (p.Gly1154Ser)	KCNH2 (G1154S +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 1434518	NM_000238.4(KCNH2):c.3458dup (p.His1153fs)	KCNH2 (H813fs +1 more)	Duplication (frameshift variant)	Long QT syndrome	GPathogenic
Select item 456932	NM_000238.4(KCNH2):c.3459C>T (p.His1153=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 753140	NM_000238.4(KCNH2):c.3456A>G (p.Arg1152=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
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)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 359301	NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)	KCNH2 (T1146S +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2837994	NM_000238.4(KCNH2):c.3433C>G (p.Leu1145Val)	KCNH2 (L805V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1541642	NM_000238.4(KCNH2):c.3432C>T (p.Ala1144=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 67495	NM_000238.4(KCNH2):c.3430G>A (p.Ala1144Thr)	KCNH2 (A1144T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1113592	NM_000238.4(KCNH2):c.3429G>T (p.Gly1143=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2102996	NM_000238.4(KCNH2):c.3419del (p.Gly1140fs)	KCNH2 (G800fs +1 more)	Deletion (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 2068869	NM_000238.4(KCNH2):c.3417G>A (p.Pro1139=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 359302	NM_000238.4(KCNH2):c.3416C>T (p.Pro1139Leu)	KCNH2 (P1139L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1126985	NM_000238.4(KCNH2):c.3414A>T (p.Leu1138=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 966027	NM_000238.4(KCNH2):c.3410C>A (p.Ser1137Tyr)	KCNH2 (S797Y +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 1035669	NM_000238.4(KCNH2):c.3406C>T (p.Leu1136Phe)	KCNH2 (L1136F +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 67493	NM_000238.4(KCNH2):c.3404G>A (p.Arg1135His)	KCNH2 (R1135H +1 more)	Single nucleotide variant (missense variant)	not provided +1 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)	Long QT syndrome +2 more	GUncertain significance
Select item 629696	NM_000238.4(KCNH2):c.3399A>G (p.Thr1133=)	KCNH2	Single nucleotide variant (synonymous variant)	not provided +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)	Long QT syndrome +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 2958554	NM_000238.4(KCNH2):c.3387A>G (p.Gln1129=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2840969	NM_000238.4(KCNH2):c.3385C>G (p.Gln1129Glu)	KCNH2 (Q1033E +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1996872	NM_000238.4(KCNH2):c.3384C>G (p.Pro1128=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1085280	NM_000238.4(KCNH2):c.3384C>T (p.Pro1128=)	KCNH2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2771836	NM_000238.4(KCNH2):c.3380T>C (p.Leu1127Pro)	KCNH2 (L1031P +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 923705	NM_000238.4(KCNH2):c.3379C>T (p.Leu1127Phe)	KCNH2 (L1127F +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 2150497	NM_000238.4(KCNH2):c.3376G>C (p.Glu1126Gln)	KCNH2 (E786Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1425966	NM_000238.4(KCNH2):c.3373C>G (p.Pro1125Ala)	KCNH2 (P1125A +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +2 more	GUncertain significance
Select item 2130516	NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs)	KCNH2 (A1124fs +1 more)	Duplication (frameshift variant)	Long QT syndrome	GPathogenic
Select item 945617	NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs)	KCNH2 (A1124fs +1 more)	Duplication (frameshift variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 742851	NM_000238.4(KCNH2):c.3366G>C (p.Pro1122=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 377961	NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=)	KCNH2	Single nucleotide variant (synonymous variant)	not provided +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)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 661932	NM_000238.4(KCNH2):c.3358C>G (p.Leu1120Val)	KCNH2 (L1120V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2764951	NM_000238.4(KCNH2):c.3357G>C (p.Glu1119Asp)	KCNH2 (E1023D +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	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)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 855130	NM_000238.4(KCNH2):c.3352G>A (p.Glu1118Lys)	KCNH2 (E1118K +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2796424	NM_000238.4(KCNH2):c.3351T>C (p.Cys1117=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 582288	NM_000238.4(KCNH2):c.3350G>T (p.Cys1117Phe)	KCNH2 (C777F +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	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)	Cardiovascular phenotype +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)	Cardiac arrhythmia +2 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)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 1976495	NM_000238.4(KCNH2):c.3342C>G (p.Phe1114Leu)	KCNH2 (F1114L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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)	Cardiac arrhythmia +5 more	GBenign/Likely benign
Select item 632867	NM_000238.4(KCNH2):c.3331-9G>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 2995657	NM_000238.4(KCNH2):c.3331-10T>C	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 2142462	NM_000238.4(KCNH2):c.3331-15_3331-14del	KCNH2	Microsatellite (intron variant)	Long QT syndrome	GLikely benign
Select item 1972230	NM_000238.4(KCNH2):c.3331-18G>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1540740	NM_000238.4(KCNH2):c.3331-20A>G	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2758297	NM_000238.4(KCNH2):c.3194_3330+68del	KCNH2	Deletion (splice donor variant)	Long QT syndrome	GPathogenic
Select item 3007452	NM_000238.4(KCNH2):c.3330+17C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2731908	NM_000238.4(KCNH2):c.3330+15T>G	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1957003	NM_000238.4(KCNH2):c.3330+12C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1927043	NM_000238.4(KCNH2):c.3330+11G>C	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2854447	NM_000238.4(KCNH2):c.3330+10A>G	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2805233	NM_000238.4(KCNH2):c.3330+8C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 67488	NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val)	KCNH2 (L1108V +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 725435	NM_000238.4(KCNH2):c.3321G>C (p.Ser1107=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 456929	NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 843735	NM_000238.4(KCNH2):c.3320C>T (p.Ser1107Leu)	KCNH2 (S1107L +1 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +2 more	GUncertain significance
Select item 1398956	NM_000238.4(KCNH2):c.3314T>C (p.Leu1105Ser)	KCNH2 (L765S +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2847445	NM_000238.4(KCNH2):c.3312C>T (p.Thr1104=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 200531	NM_000238.4(KCNH2):c.3305C>T (p.Thr1102Ile)	KCNH2 (T1102I +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 456926	NM_000238.4(KCNH2):c.3279_3303del (p.Leu1094fs)	KCNH2 (L1094fs +1 more)	Deletion (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 67487	NM_000238.4(KCNH2):c.3302C>T (p.Pro1101Leu)	KCNH2 (P1101L +1 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +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)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 526951	NM_000238.4(KCNH2):c.3296C>T (p.Pro1099Leu)	KCNH2 (P1099L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	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 966117	NM_000238.4(KCNH2):c.3292A>C (p.Ser1098Arg)	KCNH2 (S1098R +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2777185	NM_000238.4(KCNH2):c.3291C>A (p.Val1097=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2133027	NM_000238.4(KCNH2):c.3273_3288dup (p.Val1097fs)	KCNH2 (V757fs +1 more)	Duplication (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 67486	NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile)	KCNH2 (V1097I +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 922153	NM_000238.4(KCNH2):c.3288C>T (p.Pro1096=)	KCNH2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 456927	NM_000238.4(KCNH2):c.3286C>A (p.Pro1096Thr)	KCNH2 (P1096T +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2832789	NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs)	KCNH2 (L755fs +2 more)	Duplication (frameshift variant +1 more)	Long QT syndrome	GPathogenic
Select item 1631628	NM_000238.4(KCNH2):c.3282G>C (p.Leu1094=)	KCNH2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2727034	NM_000238.4(KCNH2):c.3280C>T (p.Leu1094=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 962100	NM_000238.4(KCNH2):c.3279_3280delinsAA (p.Leu1094Met)	KCNH2 (L754M +1 more)	Indel (missense variant)	Long QT syndrome	GUncertain significance

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