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Links from MedGen

Items: 1 to 100 of 115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAOA
(S345* +1 more)
Single nucleotide variant
(nonsense)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GUncertain significance
MAOA
(G331R +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(V63A)
Single nucleotide variant
(missense variant +1 more)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
(H113N +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GUncertain significance
MAOA
(I55L)
Single nucleotide variant
(missense variant +1 more)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GUncertain significance
MAOA
(D141N +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
(H365R +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
(I19T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant +1 more)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
(V294M +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
(I55V)
Single nucleotide variant
(missense variant +1 more)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
(L228V +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA, MAOB
+1 more
Deletion
not provided
GPathogenic
MAOA
(N79S +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
+1 more
GConflicting classifications of pathogenicity
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GUncertain significance
MAOA
(V384L +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
(R217Q +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(V473A +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GBenign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GBenign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
(Q285R +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(V294L +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
(K389E +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
+1 more
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
+1 more
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant +1 more)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GBenign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GBenign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
+1 more
GLikely benign
MAOA
(N138S +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(I123V +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(L390F +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(T275M +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(V37I)
Single nucleotide variant
(missense variant +1 more)
Brunner syndrome
GUncertain significance
MAOA
(I161T +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
+1 more
GConflicting classifications of pathogenicity
MAOA
(L97P)
Single nucleotide variant
(missense variant +1 more)
Brunner syndrome
GUncertain significance
MAOA
(R321Q +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(V348I +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(G235R +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(E385K +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(R109W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
MAOA
(N125S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GBenign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
(G272fs +1 more)
Deletion
(frameshift variant)
Brunner syndrome
GPathogenic
MAOA
Deletion
Brunner syndrome
GPathogenic
MAOA
(V136I +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
(D480E +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
GUncertain significance
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GUncertain significance
MAOA
(A111T)
Single nucleotide variant
(missense variant +1 more)
Brunner syndrome
GUncertain significance
MAOA
(V114I +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
+1 more
GConflicting classifications of pathogenicity
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant +1 more)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GBenign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
(T376I +1 more)
Single nucleotide variant
(missense variant)
Brunner syndrome
+1 more
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant +1 more)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Single nucleotide variant
(synonymous variant)
Brunner syndrome
GLikely benign
MAOA
Deletion
(intron variant)
Brunner syndrome
GBenign
MAOA
(E87G)
Single nucleotide variant
(missense variant +1 more)
Brunner syndrome
GUncertain significance
MAOA
(M1I)
Single nucleotide variant
(missense variant +2 more)
Brunner syndrome
GUncertain significance
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