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Items: 1 to 100 of 521

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
BCL9L, BLID
+774 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+769 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
LOC128772366, LOC128772367
+764 more
Copy number gain
See cases
GPathogenic
LOC130006864, LOC130006865
+763 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+608 more
Duplication
Schizophrenia
GLikely pathogenic
LOC130006995, LOC130006996
+551 more
Copy number loss
See cases
GPathogenic
LOC121832824, LOC124625855
+549 more
Copy number loss
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
ACAD8, ACRV1
+488 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+497 more
Copy number loss
See cases
GPathogenic
LOC126861375, LOC126861376
+444 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+442 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+440 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+439 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+368 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+363 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+353 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+352 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+343 more
Copy number loss
See cases
GPathogenic
LOC121392954, LOC121832822
+312 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+299 more
Copy number loss
See cases
GPathogenic
ARHGAP32, CDON
+116 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+266 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+265 more
Copy number loss
See cases
GPathogenic
LOC130007027, LOC130007028
+261 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number gain
See cases
GPathogenic
LOC130007109, LOC130007110
+222 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+221 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+220 more
Copy number loss
See cases
GPathogenic
ADAMTS15, ADAMTS8
+99 more
Copy number loss
See cases
GLikely pathogenic
KCNJ5
Microsatellite
(5 prime UTR variant)
Congenital long QT syndrome
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Microsatellite
(5 prime UTR variant)
Familial hyperaldosteronism
+2 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Microsatellite
(5 prime UTR variant)
not provided
GLikely benign
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GConflicting classifications of pathogenicity
KCNJ5
Microsatellite
(5 prime UTR variant)
Familial hyperaldosteronism
+2 more
GConflicting classifications of pathogenicity
KCNJ5
Microsatellite
(5 prime UTR variant)
Familial hyperaldosteronism
+2 more
GConflicting classifications of pathogenicity
KCNJ5
Insertion
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Deletion
(5 prime UTR variant)
not provided
GBenign
KCNJ5
Deletion
(5 prime UTR variant)
Familial hyperaldosteronism
+2 more
GConflicting classifications of pathogenicity
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GConflicting classifications of pathogenicity
KCNJ5
Microsatellite
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+3 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Deletion
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Deletion
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
Microsatellite
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Microsatellite
(5 prime UTR variant)
Congenital long QT syndrome
+3 more
GUncertain significance
KCNJ5
Microsatellite
(5 prime UTR variant)
Familial hyperaldosteronism
+4 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Indel
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Insertion
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GBenign
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Deletion
(5 prime UTR variant)
Familial hyperaldosteronism
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(intron variant)
not specified
GLikely benign
KCNJ5
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNJ5, KCNJ5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNJ5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GLikely benign
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