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Links from MedGen

Items: 1 to 100 of 4335

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
(R2263W)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
(P617T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
(E1729K)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
(A1321V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(E1426G)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
(A798V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(P1527Q)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(R703Q)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(A260G)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
(G505R)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
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