10008[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 306041	NM_005472.5(KCNE3):c.1514_1515dup	KCNE3	Duplication (3 prime UTR variant)	Brugada syndrome	GLikely benign
Select item 306040	NM_005472.5(KCNE3):c.*1515dup	KCNE3	Duplication (3 prime UTR variant)	Brugada syndrome	GLikely benign
Select item 306055	NM_005472.5(KCNE3):c.*1073AT[19]	KCNE3	Microsatellite (3 prime UTR variant)	Brugada syndrome	GUncertain significance
Select item 306053	NM_005472.5(KCNE3):c.*1073AT[17]	KCNE3	Microsatellite (3 prime UTR variant)	Brugada syndrome +1 more	GUncertain significance
Select item 306054	NM_005472.5(KCNE3):c.*1073AT[9]	KCNE3	Microsatellite (3 prime UTR variant)	Brugada syndrome +1 more	GUncertain significance
Select item 306061	NM_005472.5(KCNE3):c.923_924insTTT	KCNE3	Insertion (3 prime UTR variant)	Brugada syndrome	GUncertain significance
Select item 306063	NM_005472.5(KCNE3):c.919_922dup	KCNE3	Duplication (3 prime UTR variant)	Brugada syndrome +1 more	GUncertain significance
Select item 306062	NM_005472.5(KCNE3):c.920_922dup	KCNE3	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 306064	NM_005472.5(KCNE3):c.909_910del	KCNE3	Deletion (3 prime UTR variant)	Brugada syndrome	GLikely benign
Select item 1270048	NM_005472.4(KCNE3):c.*80A>G	KCNE3	Single nucleotide variant	not provided	GBenign
Select item 306081	NM_005472.5(KCNE3):c.*38G>A	KCNE3	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome	GUncertain significance
Select item 137979	NM_005472.4(KCNE3):c.*17C>T	KCNE3	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 1259952	NM_005472.5(KCNE3):c.*3C>T	KCNE3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 538118	NM_005472.5(KCNE3):c.310T>C (p.Ter104Gln)	KCNE3	Single nucleotide variant (stop lost)	Brugada syndrome 6	GUncertain significance
Select item 1003756	NM_005472.5(KCNE3):c.304A>G (p.Met102Val)	KCNE3 (M102V)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 3287554	NM_005472.5(KCNE3):c.298G>A (p.Val100Met)	KCNE3 (V100M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 5542	NM_005472.5(KCNE3):c.296G>A (p.Arg99His)	KCNE3 (R99H)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1798151	NM_005472.5(KCNE3):c.295C>T (p.Arg99Cys)	KCNE3 (R99C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3113145	NM_005472.5(KCNE3):c.287T>G (p.Ile96Ser)	KCNE3 (I96S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1796569	NM_005472.5(KCNE3):c.282G>A (p.Val94=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3016290	NM_005472.5(KCNE3):c.278_279del (p.His93fs)	KCNE3 (H93fs)	Deletion (frameshift variant)	Brugada syndrome 6	GUncertain significance
Select item 1084087	NM_005472.5(KCNE3):c.279T>C (p.His93=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 843374	NM_005472.5(KCNE3):c.279T>A (p.His93Gln)	KCNE3 (H93Q)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 3224709	NM_005472.5(KCNE3):c.278A>G (p.His93Arg)	KCNE3 (H93R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1795900	NM_005472.5(KCNE3):c.277C>T (p.His93Tyr)	KCNE3 (H93Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3113144	NM_005472.5(KCNE3):c.275A>T (p.Tyr92Phe)	KCNE3 (Y92F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 190801	NM_005472.5(KCNE3):c.263G>A (p.Arg88His)	KCNE3 (R88H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 538117	NM_005472.5(KCNE3):c.262C>T (p.Arg88Cys)	KCNE3 (R88C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1947646	NM_005472.5(KCNE3):c.254T>C (p.Val85Ala)	KCNE3 (V85A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1792357	NM_005472.5(KCNE3):c.250A>G (p.Lys84Glu)	KCNE3 (K84E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1406921	NM_005472.5(KCNE3):c.248G>C (p.Arg83Pro)	KCNE3 (R83P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 5541	NM_005472.5(KCNE3):c.248G>A (p.Arg83His)	KCNE3, LIPT2 (R83H)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +8 more	GConflicting classifications of pathogenicity
Select item 2150173	NM_005472.5(KCNE3):c.247C>T (p.Arg83Cys)	KCNE3 (R83C)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 1791148	NM_005472.5(KCNE3):c.242G>A (p.Arg81His)	KCNE3 (R81H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 972690	NM_005472.5(KCNE3):c.241C>T (p.Arg81Cys)	KCNE3 (R81C)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +2 more	GUncertain significance
Select item 1790854	NM_005472.5(KCNE3):c.240C>T (p.Thr80=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1790680	NM_005472.5(KCNE3):c.239C>T (p.Thr80Ile)	KCNE3 (T80I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1160709	NM_005472.5(KCNE3):c.237C>T (p.Tyr79=)	KCNE3	Single nucleotide variant (synonymous variant)	Brugada syndrome 6	GLikely benign
Select item 698783	NM_005472.5(KCNE3):c.228C>T (p.Ile76=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign
Select item 1035425	NM_005472.5(KCNE3):c.222C>G (p.Ser74Arg)	KCNE3 (S74R)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 191468	NM_005472.5(KCNE3):c.215T>G (p.Val72Gly)	KCNE3 (V72G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 259778	NM_005472.5(KCNE3):c.198T>C (p.Phe66=)	KCNE3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1783395	NM_005472.5(KCNE3):c.195G>A (p.Met65Ile)	KCNE3 (M65I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1489105	NM_005472.5(KCNE3):c.194T>C (p.Met65Thr)	KCNE3 (M65T)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +1 more	GUncertain significance
Select item 2447646	NM_005472.5(KCNE3):c.183T>C (p.Ile61=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1780321	NM_005472.5(KCNE3):c.179A>G (p.Tyr60Cys)	KCNE3 (Y60C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1779953	NM_005472.5(KCNE3):c.177G>A (p.Met59Ile)	KCNE3 (M59I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2216876	NM_005472.5(KCNE3):c.175A>G (p.Met59Val)	KCNE3 (M59V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 538116	NM_005472.5(KCNE3):c.175A>C (p.Met59Leu)	KCNE3 (M59L)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 2166702	NM_005472.5(KCNE3):c.173A>G (p.Tyr58Cys)	KCNE3 (Y58C)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 1656588	NM_005472.5(KCNE3):c.159T>C (p.Arg53=)	KCNE3	Single nucleotide variant (synonymous variant)	Brugada syndrome 6	GLikely benign
Select item 1402058	NM_005472.5(KCNE3):c.158G>T (p.Arg53Leu)	KCNE3 (R53L)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 402993	NM_005472.5(KCNE3):c.158G>A (p.Arg53His)	KCNE3 (R53H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2044398	NM_005472.5(KCNE3):c.157C>T (p.Arg53Cys)	KCNE3 (R53C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519545	NM_005472.5(KCNE3):c.150A>T (p.Leu50=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2180362	NM_005472.5(KCNE3):c.140G>A (p.Arg47Gln)	KCNE3 (R47Q)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 1771723	NM_005472.5(KCNE3):c.139C>T (p.Arg47Trp)	KCNE3 (R47W)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +1 more	GUncertain significance
Select item 1771720	NM_005472.5(KCNE3):c.139C>G (p.Arg47Gly)	KCNE3 (R47G)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +1 more	GUncertain significance
Select item 2183017	NM_005472.5(KCNE3):c.138G>A (p.Arg46=)	KCNE3	Single nucleotide variant (synonymous variant)	Brugada syndrome 6	GLikely benign
Select item 1477151	NM_005472.5(KCNE3):c.134A>C (p.Glu45Ala)	KCNE3 (E45A)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 3224708	NM_005472.5(KCNE3):c.130G>A (p.Glu44Lys)	KCNE3 (E44K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 538115	NM_005472.5(KCNE3):c.120C>G (p.Asp40Glu)	KCNE3 (D40E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1741663	NM_005472.5(KCNE3):c.117A>G (p.Pro39=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 582464	NM_005472.5(KCNE3):c.116C>G (p.Pro39Arg)	KCNE3 (P39R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 3224707	NM_005472.5(KCNE3):c.115C>T (p.Pro39Ser)	KCNE3 (P39S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1010885	NM_005472.5(KCNE3):c.113G>A (p.Gly38Glu)	KCNE3 (G38E)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 3224706	NM_005472.5(KCNE3):c.104del (p.Pro35fs)	KCNE3 (P35fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1776585	NM_005472.5(KCNE3):c.104C>T (p.Pro35Leu)	KCNE3 (P35L)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +1 more	GUncertain significance
Select item 2073278	NM_005472.5(KCNE3):c.103C>T (p.Pro35Ser)	KCNE3 (P35S)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 470686	NM_005472.5(KCNE3):c.95G>A (p.Arg32Gln)	KCNE3 (R32Q)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +1 more	GUncertain significance
Select item 3224710	NM_005472.5(KCNE3):c.94C>G (p.Arg32Gly)	KCNE3 (R32G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1767169	NM_005472.5(KCNE3):c.94del (p.Arg32fs)	KCNE3 (R32fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1041613	NM_005472.5(KCNE3):c.94C>T (p.Arg32Trp)	KCNE3 (R32W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1766493	NM_005472.5(KCNE3):c.92G>A (p.Cys31Tyr)	KCNE3 (C31Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1763229	NM_005472.5(KCNE3):c.83A>G (p.Asn28Ser)	KCNE3 (N28S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 523951	NM_005472.5(KCNE3):c.69del (p.Thr24fs)	KCNE3 (T24fs)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 571438	NM_005472.5(KCNE3):c.67G>C (p.Ala23Pro)	KCNE3 (A23P)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 972693	NM_005472.5(KCNE3):c.65A>G (p.Asn22Ser)	KCNE3 (N22S)	Single nucleotide variant (missense variant)	Prolonged QT interval	GUncertain significance
Select item 2894117	NM_005472.5(KCNE3):c.52C>T (p.Leu18=)	KCNE3	Single nucleotide variant (synonymous variant)	Brugada syndrome 6	GLikely benign
Select item 658553	NM_005472.5(KCNE3):c.49G>A (p.Val17Met)	KCNE3 (V17M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 390437	NM_005472.5(KCNE3):c.48C>T (p.Ala16=)	KCNE3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2416326	NM_005472.5(KCNE3):c.46G>A (p.Ala16Thr)	KCNE3 (A16T)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 2416327	NM_005472.5(KCNE3):c.40C>A (p.Leu14Met)	KCNE3 (L14M)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 2626384	NM_005472.5(KCNE3):c.38G>A (p.Ser13Asn)	KCNE3 (S13N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 519281	NM_005472.5(KCNE3):c.37A>G (p.Ser13Gly)	KCNE3 (S13G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1053155	NM_005472.5(KCNE3):c.35A>G (p.Glu12Gly)	KCNE3 (E12G)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 1796164	NM_005472.5(KCNE3):c.27C>G (p.Thr9=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 264211	NM_005472.5(KCNE3):c.26C>T (p.Thr9Ile)	KCNE3 (T9I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1475770	NM_005472.5(KCNE3):c.25A>G (p.Thr9Ala)	KCNE3 (T9A)	Single nucleotide variant (missense variant)	Brugada syndrome 6	GUncertain significance
Select item 3022761	NM_005472.5(KCNE3):c.22G>T (p.Glu8Ter)	KCNE3 (E8*)	Single nucleotide variant (nonsense)	Brugada syndrome 6	GUncertain significance
Select item 387176	NM_005472.5(KCNE3):c.21G>A (p.Thr7=)	KCNE3	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 190800	NM_005472.5(KCNE3):c.20C>T (p.Thr7Met)	KCNE3 (T7M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 126426	NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)	KCNE3, LIPT2 (T4A)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 402994	NM_005472.5(KCNE3):c.2T>C (p.Met1Thr)	KCNE3 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 373687	NM_005472.5(KCNE3):c.-12A>G	KCNE3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 681496	NM_005472.5(KCNE3):c.-19del	KCNE3	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 382508	NM_005472.5(KCNE3):c.-30G>A	KCNE3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378000	NM_005472.5(KCNE3):c.-40-17T>C	KCNE3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign

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