"Ambry Genetics"[submitter] AND "KCNE3"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1084087	NM_005472.5(KCNE3):c.279T>C (p.His93=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 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 698783	NM_005472.5(KCNE3):c.228C>T (p.Ile76=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign
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 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)	Brugada syndrome 6 +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 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 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 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 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 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 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 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 387176	NM_005472.5(KCNE3):c.21G>A (p.Thr7=)	KCNE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57