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Items: 1 to 100 of 217

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130066574, LOC130066575
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066796, LOC130066797
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066513, LOC130066514
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653326, LOC126653327
+1160 more
Copy number gain
See cases
GUncertain significance
LOC130066833, LOC130066834
+1160 more
Copy number gain
See cases
GPathogenic
CBR1-AS1, CBR3
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066700, LOC130066701
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066665, LOC130066666
+1160 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+643 more
Copy number loss
See cases
GPathogenic
LOC126653316, LOC126653317
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066436, LOC130066437
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
KRTAP13-3, KRTAP13-4
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+884 more
Copy number gain
See cases
GPathogenic
AATBC, MIR6814
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066541, LOC130066542
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
LOC130066593, LOC130066594
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066830, LOC130066831
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC129391220, LOC129391221
+1156 more
Copy number loss
See cases
GPathogenic
ATP5PO, C21orf62
+107 more
Deletion
ZTTK syndrome
GPathogenic
KCNE2, LOC105372791
Single nucleotide variant
not provided
GBenign
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
Familial atrial fibrillation
+4 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
KCNE2, LOC105372791
Single nucleotide variant
(intron variant)
Atrial fibrillation, familial, 4
+3 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNE2, LOC105372791
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNE2, LOC105372791
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
KCNE2, LOC105372791
(M1T)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(S5P)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 4
+2 more
GUncertain significance
KCNE2, LOC105372791
(S5F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNE2, LOC105372791
(N6S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNE2, LOC105372791
(T8A)
Single nucleotide variant
(missense variant)
Long QT syndrome, drug-associated
+5 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(T8I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCNE2, LOC105372791
(Q9*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
GUncertain significance
KCNE2, LOC105372791
(Q9E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
KCNE2, LOC105372791
(Q9L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(T10M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+2 more
GLikely benign
KCNE2, LOC105372791
(L11V)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
KCNE2, LOC105372791
(V14I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
LOC105372791, KCNE2
(V14D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
(R16*)
Single nucleotide variant
(nonsense)
Long QT syndrome 6
+2 more
GUncertain significance
KCNE2, LOC105372791
(R16Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNE2, LOC105372791
(I20N)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+1 more
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
KCNE2, LOC105372791
(M23L)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 4
+3 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
KCNE2, LOC105372791
(R27S)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(R27C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(R27H)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 4
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(N29I)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
KCNE2, LOC105372791
(T30I)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(E33K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNE2, LOC105372791
(A39G)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(K40T)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(V41A)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(Y47C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(non-coding transcript variant +1 more)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
(Y48fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
KCNE2, LOC105372791
(V49fs)
Duplication
(frameshift variant)
Long QT syndrome 6
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+3 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Duplication
(inframe_insertion)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(M54V)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(M54T)
Single nucleotide variant
(missense variant)
KCNE2-Related Disorders
+3 more
GConflicting classifications of pathogenicity; risk factor
KCNE2, LOC105372791
(M56V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KCNE2, LOC105372791
(I57T)
Single nucleotide variant
(missense variant)
KCNE2-related condition
+5 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(I57M)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(M59I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCNE2, LOC105372791
(F60I)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(F60L)
Single nucleotide variant
(missense variant)
Long QT syndrome 3/6, digenic
GPathogenic
KCNE2, LOC105372791
(S61P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+1 more
GLikely benign
KCNE2, LOC105372791
(I64V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
LOC105372791, KCNE2
(V65L)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(V65M)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+1 more
GLikely benign
KCNE2, LOC105372791
(A66V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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