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Items: 1 to 100 of 416

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAM2, NDUFV3
+1159 more
Copy number gain
See cases
GPathogenic
PDE9A-AS1, PDXK
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066843, LOC130066844
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653343, LOC126653344
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GUncertain significance
LINC00315, LINC00316
+1160 more
Copy number gain
See cases
GPathogenic
ATP5PF, ATP5PO
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653350, LOC126653351
+1159 more
Copy number gain
See cases
GPathogenic
LINC00111, LINC00112
+1160 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+643 more
Copy number loss
See cases
GPathogenic
TSPEAR-AS1, TSPEAR-AS2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066578, LOC130066579
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653316, LOC126653317
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066717, LOC130066718
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC125418051, LOC125418052
+1159 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+884 more
Copy number gain
See cases
GPathogenic
HSF2BP, HSPA13
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066756, LOC130066757
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
KRTAP12-3, KRTAP12-4
+1157 more
Copy number gain
See cases
GPathogenic
LOC107403153, LOC107548109
+1155 more
Copy number gain
See cases
GPathogenic
SON, SPATC1L
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066735, LOC130066736
+1156 more
Copy number loss
See cases
GPathogenic
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+2 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+3 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+3 more
GBenign/Likely benign
KCNE1
Microsatellite
(3 prime UTR variant)
not provided
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(no sequence alteration)
Congenital long QT syndrome
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+3 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+4 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Duplication
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Deletion
(3 prime UTR variant)
not provided
+3 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Deletion
(3 prime UTR variant)
Long QT syndrome
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+4 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+3 more
GConflicting classifications of pathogenicity
KCNE1
Duplication
not specified
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+3 more
GBenign
KCNE1
Deletion
(3 prime UTR variant)
Long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+3 more
GConflicting classifications of pathogenicity
KCNE1
Duplication
not specified
GUncertain significance
KCNE1
Single nucleotide variant
(stop lost)
Long QT syndrome
GUncertain significance
KCNE1
(E124fs)
Deletion
(frameshift variant)
Long QT syndrome
GUncertain significance
KCNE1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
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