ClinVar for Gene (Select 9992) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3229284	NM_172201.2(KCNE2):c.65A>T (p.Tyr22Phe)	KCNE2, LOC105372791 (Y22F)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3229283	NM_172201.2(KCNE2):c.23C>A (p.Thr8Lys)	KCNE2, LOC105372791 (T8K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 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 2911427	NM_172201.2(KCNE2):c.369dup (p.Ter124LeuextTer?)	KCNE2, LOC105372791	Duplication (non-coding transcript variant +2 more)	Long QT syndrome 6	GUncertain significance
Select item 2886864	NM_172201.2(KCNE2):c.26A>T (p.Gln9Leu)	KCNE2, LOC105372791 (Q9L)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome 6	GUncertain significance
Select item 2886091	NM_172201.2(KCNE2):c.141C>T (p.Tyr47=)	KCNE2, LOC105372791	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome 6	GLikely benign
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 2562644	NM_172201.2(KCNE2):c.177G>A (p.Met59Ile)	KCNE2, LOC105372791 (M59I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2502591	NM_172201.2(KCNE2):c.*8G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2447578	NM_172201.2(KCNE2):c.181T>C (p.Ser61Pro)	KCNE2, LOC105372791 (S61P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447577	NM_172201.2(KCNE2):c.201C>G (p.Ile67Met)	KCNE2, LOC105372791 (I67M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2188479	NM_172201.2(KCNE2):c.354G>C (p.Gly118=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 2163002	NM_172201.2(KCNE2):c.301T>C (p.Leu101=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 2147375	NM_172201.2(KCNE2):c.119A>C (p.Lys40Thr)	KCNE2, LOC105372791 (K40T)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 2127889	NM_172201.2(KCNE2):c.31C>G (p.Leu11Val)	KCNE2, LOC105372791 (L11V)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 2082091	NM_172201.2(KCNE2):c.116C>G (p.Ala39Gly)	KCNE2, LOC105372791 (A39G)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 2038256	NM_172201.2(KCNE2):c.163_165dup (p.Val55_Met56insVal)	KCNE2, LOC105372791	Duplication (inframe_insertion)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 2011407	NM_172201.2(KCNE2):c.243T>A (p.Asn81Lys)	KCNE2, LOC105372791 (N81K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1993956	NM_172201.2(KCNE2):c.330C>A (p.Ile110=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 1798483	NM_172201.2(KCNE2):c.298A>C (p.Ile100Leu)	KCNE2, LOC105372791 (I100L)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 1797779	NM_172201.2(KCNE2):c.292A>C (p.Ser98Arg)	KCNE2, LOC105372791 (S98R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1793764	NM_172201.2(KCNE2):c.260A>G (p.Tyr87Cys)	KCNE2, LOC105372791 (Y87C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1790707	NM_172201.2(KCNE2):c.23C>T (p.Thr8Ile)	KCNE2, LOC105372791 (T8I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1790262	NM_172201.2(KCNE2):c.236A>G (p.His79Arg)	KCNE2, LOC105372791 (H79R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1788745	NM_172201.2(KCNE2):c.226A>C (p.Arg76=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1783404	NM_172201.2(KCNE2):c.195G>T (p.Val65=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1782835	NM_172201.2(KCNE2):c.192C>T (p.Ile64=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1781145	NM_172201.2(KCNE2):c.183T>G (p.Ser61=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1773531	NM_172201.2(KCNE2):c.147C>T (p.Val49=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1771977	NM_172201.2(KCNE2):c.140A>G (p.Tyr47Cys)	KCNE2, LOC105372791 (Y47C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1753333	NM_172201.2(KCNE2):c.63T>C (p.Thr21=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1738649	NM_172201.2(KCNE2):c.41T>A (p.Val14Asp)	KCNE2, LOC105372791 (V14D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1733751	NM_172201.2(KCNE2):c.366C>A (p.Ser122=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1733399	NM_172201.2(KCNE2):c.362T>C (p.Met121Thr)	KCNE2, LOC105372791 (M121T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1732143	NM_172201.2(KCNE2):c.350C>T (p.Ala117Val)	KCNE2, LOC105372791 (A117V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1731251	NM_172201.2(KCNE2):c.341T>C (p.Ile114Thr)	LOC105372791, KCNE2 (I114T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1730406	NM_172201.2(KCNE2):c.333T>C (p.His111=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1730180	NM_172201.2(KCNE2):c.331C>T (p.His111Tyr)	KCNE2, LOC105372791 (H111Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1729606	NM_172201.2(KCNE2):c.326C>T (p.Thr109Ile)	KCNE2, LOC105372791 (T109I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1721226	NM_172201.2(KCNE2):c.86A>T (p.Asn29Ile)	KCNE2, LOC105372791 (N29I)	Single nucleotide variant (missense variant)	Long QT syndrome 6	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 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 1684620	NM_172201.2(KCNE2):c.247C>G (p.Pro83Ala)	KCNE2, LOC105372791 (P83A)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1641836	NM_172201.2(KCNE2):c.369C>T (p.Pro123=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 1607185	NM_172201.2(KCNE2):c.207G>A (p.Val69=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 1556903	NM_172201.2(KCNE2):c.42C>A (p.Val14=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	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 1485015	NM_172201.2(KCNE2):c.89C>T (p.Thr30Ile)	KCNE2, LOC105372791 (T30I)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1475863	NM_172201.2(KCNE2):c.144dup (p.Val49fs)	KCNE2, LOC105372791 (V49fs)	Duplication (frameshift variant)	Atrial fibrillation, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1470610	NM_172201.2(KCNE2):c.250T>C (p.Tyr84His)	KCNE2, LOC105372791 (Y84H)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1469989	NM_172201.2(KCNE2):c.238T>C (p.Ser80Pro)	KCNE2, LOC105372791 (S80P)	Single nucleotide variant (missense variant)	Long QT syndrome 6	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 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	CFAP298, CHAF1B +48 more	Duplication	DYRK1A-related intellectual disability syndrome +1 more	GUncertain significance
Select item 1390131	NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr)	KCNE2, LOC105372791 (A116T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1355597	NM_172201.2(KCNE2):c.345_346dup (p.Ala116fs)	KCNE2, LOC105372791 (A116fs)	Duplication (frameshift variant)	Long QT syndrome 6	GUncertain significance
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 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 1306180	NM_172201.2(KCNE2):c.141del (p.Tyr48fs)	KCNE2, LOC105372791 (Y48fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1304831	NM_172201.2(KCNE2):c.14C>T (p.Ser5Phe)	KCNE2, LOC105372791 (S5F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291248	NM_172201.2(KCNE2):c.*193G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291246	NM_172201.2(KCNE2):c.*33G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291245	NM_172201.2(KCNE2):c.-12-56C>T	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249135	NM_172201.2(KCNE2):c.*310G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1249109	NM_172201.2(KCNE2):c.-19T>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1248460	NM_172201.2(KCNE2):c.*233C>T	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1242701	NM_172201.2(KCNE2):c.-12-44C>T	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217300	NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)	KCNE2, LOC105372791 (S5P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +2 more	GUncertain significance
Select item 1202849	NM_172201.2(KCNE2):c.-12-27T>C	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188351	NM_172201.2(KCNE2):c.-13+313T>C	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1172865	NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser)	KCNE2, LOC105372791 (R27S)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 1140371	NM_172201.2(KCNE2):c.246C>T (p.Asp82=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 1107314	NM_172201.2(KCNE2):c.228A>G (p.Arg76=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +2 more	GLikely benign
Select item 1100648	NM_172201.2(KCNE2):c.87C>T (p.Asn29=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +1 more	GLikely benign
Select item 1072405	NC_000021.8:g.35742772-?_36421202+?del	KCNE2, RUNX1	Deletion	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic
Select item 1035906	NC_000021.8:g.(?_32439271)_(37133458_?)dup	IFNGR2, IL10RB +33 more	Duplication	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1020116	NM_172201.2(KCNE2):c.293G>A (p.Ser98Asn)	LOC105372791, KCNE2 (S98N)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1017741	NC_000021.8:g.(?_35742768)_(35743160_?)del	KCNE2	Deletion	Long QT syndrome 6	GUncertain significance
Select item 1014862	NM_172201.2(KCNE2):c.46C>T (p.Arg16Ter)	KCNE2, LOC105372791 (R16*)	Single nucleotide variant (nonsense)	Long QT syndrome 6 +2 more	GUncertain significance
Select item 1010050	NM_172201.2(KCNE2):c.367C>T (p.Pro123Ser)	KCNE2, LOC105372791 (P123S)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1008832	NM_172201.2(KCNE2):c.365C>T (p.Ser122Phe)	KCNE2, LOC105372791 (S122F)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1005300	NM_172201.2(KCNE2):c.221C>A (p.Ser74Tyr)	KCNE2, LOC105372791 (S74Y)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1003090	NM_172201.2(KCNE2):c.344G>T (p.Gly115Val)	KCNE2, LOC105372791 (G115V)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 956020	NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser)	LOC105372791, KCNE2 (N81S)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +2 more	GUncertain significance
Select item 955646	NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp)	KCNE2, LOC105372791	Single nucleotide variant (stop lost)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 938947	NM_172201.2(KCNE2):c.160A>G (p.Met54Val)	KCNE2, LOC105372791 (M54V)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 899357	NM_172201.2(KCNE2):c.*234G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 898250	NM_172201.2(KCNE2):c.*61C>T	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 898249	NM_172201.2(KCNE2):c.*11A>C	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 898248	NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile)	KCNE2, LOC105372791 (F60I)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 895204	NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser)	KCNE2, LOC105372791 (N6S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 872829	GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	CFAP298, ATP5PO +28 more	Copy number loss	21q22.11q22.12 microdeletion syndrome	GPathogenic

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