U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 1054

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Duplication
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(L425del +2 more)
Deletion
(inframe_deletion +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GUncertain significance
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(Q7*)
Single nucleotide variant
(nonsense +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
Single nucleotide variant
(splice acceptor variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely pathogenic
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(P505fs +2 more)
Duplication
(frameshift variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(L200fs +1 more)
Deletion
(frameshift variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(H61Y)
Single nucleotide variant
(missense variant +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GUncertain significance
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(L433fs +1 more)
Deletion
(frameshift variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(L419fs +2 more)
Deletion
(frameshift variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
(Q66P)
Single nucleotide variant
(missense variant +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GUncertain significance
BRAT1
Single nucleotide variant
(splice acceptor variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely pathogenic
BRAT1
Single nucleotide variant
(synonymous variant +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(E105*)
Single nucleotide variant
(nonsense +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(M1V)
Single nucleotide variant
(missense variant +3 more)
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(Q66*)
Single nucleotide variant
(nonsense +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely pathogenic
BRAT1
(Q196* +1 more)
Single nucleotide variant
(nonsense +1 more)
BRAT1-related disorder
+1 more
GPathogenic/Likely pathogenic
BRAT1
(W232* +1 more)
Single nucleotide variant
(nonsense +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
Deletion
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
Deletion
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(S273I +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GUncertain significance
BRAT1
Single nucleotide variant
(intron variant)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(S488F +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GUncertain significance
BRAT1
Single nucleotide variant
(intron variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely pathogenic
BRAT1
Duplication
(frameshift variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
(R177* +1 more)
Single nucleotide variant
(nonsense +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GPathogenic
BRAT1
(E782G +2 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GUncertain significance
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(T418N +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GUncertain significance
BRAT1
(I198M +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GUncertain significance
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +2 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
Single nucleotide variant
(synonymous variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
GLikely benign
BRAT1
(P10L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
BRAT1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
Format
Items per page
Sort by
Choose Destination