3757[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	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 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	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 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
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 359295	NM_000238.4(KCNH2):c.*397T>C	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GBenign
Select item 359296	NM_000238.4(KCNH2):c.*367C>A	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome	GUncertain significance
Select item 910579	NM_000238.4(KCNH2):c.*268C>T	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 359297	NM_000238.4(KCNH2):c.*228G>A	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 359298	NM_000238.4(KCNH2):c.*195C>A	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome	GUncertain significance
Select item 910580	NM_000238.4(KCNH2):c.*190C>T	KCNH2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 910581	NM_000238.4(KCNH2):c.*147T>A	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GUncertain significance
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 911810	NM_000238.4(KCNH2):c.*92C>G	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 911809	NM_000238.4(KCNH2):c.*92C>T	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GBenign
Select item 911811	NM_000238.4(KCNH2):c.*56C>T	KCNH2	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 2	GUncertain significance
Select item 646391	NC_000007.13:g.(?_150642433)_(150675021_?)dup	LOC129999612, LOC129999611 +3 more	Duplication	Long QT syndrome	GUncertain significance
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)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 3070534	NM_000238.4(KCNH2):c.*6C>T	KCNH2	Single nucleotide variant (3 prime UTR variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074036	NM_000238.4(KCNH2):c.3478T>G (p.Ter1160Glu)	KCNH2	Single nucleotide variant (stop lost +1 more)	Long QT syndrome	GUncertain significance
Select item 1731807	NM_000238.4(KCNH2):c.3478T>C (p.Ter1160Gln)	KCNH2	Single nucleotide variant (stop lost)	Cardiovascular phenotype	GUncertain significance
Select item 3074983	NM_000238.4(KCNH2):c.3474C>A (p.Gly1158=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
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)	Cardiac arrhythmia +1 more	GLikely 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)	Cardiac arrhythmia +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 2 +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 3071983	NM_000238.4(KCNH2):c.3466G>A (p.Asp1156Asn)	KCNH2 (D1060N +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	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)	Long QT syndrome +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 1731642	NM_000238.4(KCNH2):c.3460G>C (p.Gly1154Arg)	KCNH2 (G1058R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 3073751	NM_000238.4(KCNH2):c.3459C>A (p.His1153Gln)	KCNH2 (H1057Q +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3072847	NM_000238.4(KCNH2):c.3459C>G (p.His1153Gln)	KCNH2 (H1057Q +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	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)	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)	Cardiac arrhythmia +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 523712	NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs)	KCNH2 (H1151fs +1 more)	Microsatellite (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 629472	NM_000238.4(KCNH2):c.3453C>A (p.His1151Gln)	KCNH2 (H811Q +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +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 2567295	NM_000238.4(KCNH2):c.3445C>T (p.Pro1149Ser)	KCNH2 (P1149S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3071428	NM_000238.4(KCNH2):c.3440C>G (p.Ser1147Cys)	KCNH2 (S1051C +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 359301	NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)	KCNH2 (T1146S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Long QT syndrome +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 1731223	NM_000238.4(KCNH2):c.3417G>C (p.Pro1139=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	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 +2 more	GUncertain significance
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 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)	Cardiovascular phenotype +2 more	GUncertain significance
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 1035669	NM_000238.4(KCNH2):c.3406C>T (p.Leu1136Phe)	KCNH2 (L1136F +1 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +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)	Cardiac arrhythmia +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)	Cardiac arrhythmia +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)	Short QT syndrome type 1 +6 more	GUncertain significance
Select item 3071661	NM_000238.4(KCNH2):c.3393C>T (p.Gly1131=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign

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