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Links from MedGen

Items: 1 to 100 of 803

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
(V891A +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Microsatellite
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 34
GLikely benign
LOC113960611, SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Duplication
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
(L766fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 34
GPathogenic
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
LOC113960611, SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 34
GLikely pathogenic
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
(G18D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
(W596* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 34
GPathogenic
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
(L523P +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
(I153F +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SLC12A5
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
LOC130065980, SLC12A5
+1 more
(V39D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
+1 more
GConflicting classifications of pathogenicity
SLC12A5
(Y616H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
(S963N +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
(R938* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 34
GLikely pathogenic
SLC12A5
(G109S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
(E458D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 34
GLikely pathogenic
SLC12A5
(R780H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
(R846Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
SLC12A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 34
GLikely benign
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