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Links from MedGen

Items: 1 to 100 of 254

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant +1 more)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(T120fs)
Deletion
(frameshift variant)
Neu-Laxova syndrome 2
GPathogenic
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(W257*)
Single nucleotide variant
(nonsense)
Neu-Laxova syndrome 2
GPathogenic
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Deletion
Neu-Laxova syndrome 2
GPathogenic
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(R296W +1 more)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Insertion
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(A198T)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Deletion
(splice donor variant)
Neu-Laxova syndrome 2
GLikely pathogenic
PSAT1
Single nucleotide variant
(synonymous variant +1 more)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(V168I)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(A171fs)
Deletion
(frameshift variant)
Neu-Laxova syndrome 2
GPathogenic
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(G13S)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(G77fs)
Deletion
(frameshift variant)
Neu-Laxova syndrome 2
GPathogenic
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(M267T)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(A205V)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(R298*)
Single nucleotide variant
(nonsense +1 more)
Neu-Laxova syndrome 2
GPathogenic
PSAT1
(V209M)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(G197R)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(E317*)
Single nucleotide variant
(nonsense +1 more)
PSAT1-Related Disorders
+1 more
GPathogenic/Likely pathogenic
PSAT1
(E28fs)
Deletion
(frameshift variant)
Neu-Laxova syndrome 2
GPathogenic
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(L128V)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(S238C)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(K110E)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(T120A)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Microsatellite
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(D31G)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(Y289C)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(Y249H)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(L142R)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
(H335L)
Single nucleotide variant
(missense variant +1 more)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(M321T +1 more)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(V227F)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GBenign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant +1 more)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Duplication
(intron variant)
Neu-Laxova syndrome 2
GBenign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant +1 more)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
GLikely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
GLikely benign
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