ClinVar for Gene (Select 3753) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3014399	NM_000219.6(KCNE1):c.99G>T (p.Arg33Ser)	KCNE1 (R33S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2976069	NM_000219.6(KCNE1):c.219C>T (p.His73=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2974218	NM_000219.6(KCNE1):c.104C>T (p.Pro35Leu)	KCNE1 (P35L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2963016	NM_000219.6(KCNE1):c.124C>T (p.Leu42=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2919209	NM_000219.6(KCNE1):c.371A>G (p.Glu124Gly)	KCNE1 (E124G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2889267	NM_000219.6(KCNE1):c.103C>T (p.Pro35Ser)	KCNE1 (P35S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2871256	NM_000219.6(KCNE1):c.223A>C (p.Asn75His)	KCNE1 (N75H)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2846135	NM_000219.6(KCNE1):c.97A>G (p.Arg33Gly)	KCNE1 (R33G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2825910	NM_000219.6(KCNE1):c.49T>A (p.Trp17Arg)	KCNE1 (W17R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2824451	NM_000219.6(KCNE1):c.379C>T (p.Pro127Ser)	KCNE1 (P127S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2771519	NM_000219.6(KCNE1):c.139G>C (p.Val47Leu)	KCNE1 (V47L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2758768	NM_000219.6(KCNE1):c.294G>T (p.Arg98=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2736986	NM_000219.6(KCNE1):c.147G>A (p.Met49Ile)	KCNE1 (M49I)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652634	NM_000219.6(KCNE1):c.224A>G (p.Asn75Ser)	KCNE1 (N75S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631186	NM_000219.6(KCNE1):c.293G>C (p.Arg98Pro)	KCNE1 (R98P)	Single nucleotide variant (missense variant)	KCNE1-related condition	GUncertain significance
Select item 2587505	NM_000219.6(KCNE1):c.148G>A (p.Val50Ile)	KCNE1 (V50I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2587504	NM_000219.6(KCNE1):c.246C>G (p.Ile82Met)	KCNE1 (I82M)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2504842	NM_000219.6(KCNE1):c.193T>C (p.Tyr65His)	KCNE1 (Y65H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502185	NM_000219.6(KCNE1):c.-376-8A>T	KCNE1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 2481301	NM_000219.6(KCNE1):c.268A>G (p.Lys90Glu)	KCNE1 (K90E)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2453431	NM_000219.6(KCNE1):c.343A>G (p.Ile115Val)	KCNE1 (I115V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2453430	NM_000219.6(KCNE1):c.341C>T (p.Ala114Val)	KCNE1 (A114V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2453429	NM_000219.6(KCNE1):c.280T>C (p.Tyr94His)	KCNE1 (Y94H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2242499	NM_000219.6(KCNE1):c.92C>T (p.Ala31Val)	KCNE1 (A31V)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2189532	NM_000219.6(KCNE1):c.339G>A (p.Leu113=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2159806	NM_000219.6(KCNE1):c.146T>C (p.Met49Thr)	KCNE1 (M49T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2159101	NM_000219.6(KCNE1):c.43A>G (p.Lys15Glu)	KCNE1 (K15E)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2156590	NM_000219.6(KCNE1):c.216G>A (p.Glu72=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2155519	NM_000219.6(KCNE1):c.384C>A (p.Ser128=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2151082	NM_000219.6(KCNE1):c.72T>C (p.Gly24=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2141542	NM_000219.6(KCNE1):c.207G>A (p.Lys69=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2138385	NM_000219.6(KCNE1):c.74G>T (p.Gly25Val)	KCNE1 (G25V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2138384	NM_000219.6(KCNE1):c.349C>T (p.Gln117Ter)	KCNE1 (Q117*)	Single nucleotide variant (nonsense)	Long QT syndrome	GUncertain significance
Select item 2119464	NM_000219.6(KCNE1):c.275A>G (p.Lys92Arg)	KCNE1 (K92R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2118370	NM_000219.6(KCNE1):c.22G>T (p.Ala8Ser)	KCNE1 (A8S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2048825	NM_000219.6(KCNE1):c.288G>A (p.Gln96=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1794434	NM_000219.6(KCNE1):c.265G>A (p.Glu89Lys)	KCNE1 (E89K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1793098	NM_000219.6(KCNE1):c.255T>C (p.Asp85=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1791774	NM_000219.6(KCNE1):c.247_248delinsAC (p.Glu83Thr)	KCNE1 (E83T)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1791451	NM_000219.6(KCNE1):c.244A>G (p.Ile82Val)	KCNE1 (I82V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1785185	NM_000219.6(KCNE1):c.205A>G (p.Lys69Glu)	KCNE1 (K69E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1774826	NM_000219.6(KCNE1):c.153G>T (p.Leu51=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1772002	NM_000219.6(KCNE1):c.140T>C (p.Val47Ala)	KCNE1 (V47A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766174	NM_000219.6(KCNE1):c.91G>A (p.Ala31Thr)	KCNE1 (A31T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1754995	NM_000219.6(KCNE1):c.66G>T (p.Gln22His)	KCNE1 (Q22H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743967	NM_000219.6(KCNE1):c.48G>A (p.Leu16=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1728290	NM_000219.6(KCNE1):c.315G>C (p.Ser105=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1722199	NM_000219.6(KCNE1):c.179G>T (p.Gly60Val)	KCNE1 (G60V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1720782	NM_000219.6(KCNE1):c.337C>G (p.Leu113Val)	KCNE1 (L113V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1705696	NM_000219.6(KCNE1):c.106dup (p.Arg36fs)	KCNE1 (R36fs)	Duplication (frameshift variant)	Long QT syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 1677791	NM_000219.6(KCNE1):c.181A>T (p.Ile61Phe)	KCNE1 (I61F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677454	NM_000219.6(KCNE1):c.329A>G (p.Glu110Gly)	KCNE1 (E110G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1677446	NM_000219.6(KCNE1):c.143T>C (p.Leu48Pro)	KCNE1 (L48P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1669366	NM_000219.6(KCNE1):c.312G>A (p.Arg104=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1668685	NM_000219.6(KCNE1):c.75C>A (p.Gly25=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1648075	NM_000219.6(KCNE1):c.375G>A (p.Thr125=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1623549	NM_000219.6(KCNE1):c.60A>G (p.Thr20=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1617457	NM_000219.6(KCNE1):c.78C>T (p.Asn26=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1589278	NM_000219.6(KCNE1):c.246C>T (p.Ile82=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 1547528	NM_000219.6(KCNE1):c.183C>T (p.Ile61=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1526716	GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)	CLIC6, KCNE1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KCNJ6, ATP5PO +91 more	Copy number gain	not specified	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	CRYZL1, CYYR1 +77 more	Copy number loss	not specified	GUncertain significance
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1515622	NM_000219.6(KCNE1):c.172A>G (p.Thr58Ala)	KCNE1 (T58A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1471991	NM_000219.6(KCNE1):c.388T>C (p.Ter130Arg)	KCNE1	Single nucleotide variant (stop lost)	Long QT syndrome	GUncertain significance
Select item 1462525	NM_000219.6(KCNE1):c.236A>G (p.Asn79Ser)	KCNE1 (N79S)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +2 more	GUncertain significance
Select item 1461085	NM_000219.6(KCNE1):c.110G>C (p.Ser37Thr)	KCNE1 (S37T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1431647	NC_000021.8:g.(?_35821543)_(35821932_?)del	KCNE1	Deletion	Long QT syndrome	GPathogenic
Select item 1429999	NM_000219.6(KCNE1):c.106C>G (p.Arg36Gly)	KCNE1 (R36G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1427894	NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile)	KCNE1 (S64I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1420029	NC_000021.8:g.(?_35742778)_(35821932_?)dup	KCNE1, KCNE2 +1 more	Duplication	Long QT syndrome +1 more	GUncertain significance
Select item 1417917	NM_000219.6(KCNE1):c.49T>C (p.Trp17Arg)	KCNE1 (W17R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1415503	NM_000219.6(KCNE1):c.230del (p.Pro77fs)	KCNE1 (P77fs)	Deletion (frameshift variant)	Long QT syndrome	GPathogenic
Select item 1410431	NM_000219.6(KCNE1):c.244A>T (p.Ile82Phe)	KCNE1 (I82F)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1410427	NM_000219.6(KCNE1):c.287A>G (p.Gln96Arg)	KCNE1 (Q96R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	IFNGR2, IL10RB +48 more	Duplication	Amyotrophic lateral sclerosis type 1 +1 more	GUncertain significance
Select item 1408284	NM_000219.6(KCNE1):c.311G>C (p.Arg104Thr)	KCNE1 (R104T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1391885	NM_000219.6(KCNE1):c.218A>G (p.His73Arg)	KCNE1 (H73R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1351037	NM_000219.6(KCNE1):c.368C>T (p.Pro123Leu)	KCNE1 (P123L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1343372	NM_000219.6(KCNE1):c.20_23dup (p.Val9fs)	KCNE1 (V9fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1326545	NM_000219.6(KCNE1):c.*2077GA[5]	KCNE1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1326247	NM_000219.6(KCNE1):c.-161-91A>G	KCNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 1305173	NM_000219.6(KCNE1):c.163G>C (p.Gly55Arg)	KCNE1 (G55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303009	NM_000219.6(KCNE1):c.214G>A (p.Glu72Lys)	KCNE1 (E72K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298022	NM_000219.6(KCNE1):c.-161-566T>A	KCNE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291750	NM_000219.6(KCNE1):c.-376-131G>C	KCNE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284224	NM_000219.6(KCNE1):c.-376-130A>T	KCNE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282485	NM_000219.6(KCNE1):c.-128C>T	KCNE1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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