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Links from MedGen

Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSAT1
(Y148*)
Single nucleotide variant
(nonsense)
PSAT deficiency
GLikely pathogenic
PSAT1
Single nucleotide variant
(intron variant)
PSAT deficiency
+2 more
GBenign
PSAT1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PSAT1
(N302S)
Single nucleotide variant
(missense variant +1 more)
PSAT deficiency
+1 more
GUncertain significance
PSAT1
(S43R)
Single nucleotide variant
(missense variant)
PSAT deficiency
GPathogenic
PSAT1
(S226L)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
(T156M)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(A265T)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
(R319fs)
Duplication
(frameshift variant +1 more)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
(W140C)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
(N236H)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
Single nucleotide variant
(5 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
(A234S)
Single nucleotide variant
(missense variant)
PSAT1-related disorder
+2 more
GConflicting classifications of pathogenicity
PSAT1
(R222Q)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
(D167N)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
(V149M)
Single nucleotide variant
(missense variant)
PSAT1-related disorder
+2 more
GConflicting classifications of pathogenicity
PSAT1
Single nucleotide variant
(intron variant)
PSAT deficiency
GUncertain significance
PSAT1
(V124I)
Single nucleotide variant
(missense variant)
PSAT deficiency
+1 more
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
(A112V)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
+1 more
GConflicting classifications of pathogenicity
PSAT1
Single nucleotide variant
(synonymous variant)
PSAT1-related disorder
+2 more
GConflicting classifications of pathogenicity
PSAT1
(G36D)
Single nucleotide variant
(missense variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GBenign
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
PSAT deficiency
+1 more
GConflicting classifications of pathogenicity
PSAT1
(V35D)
Single nucleotide variant
(missense variant)
PSAT deficiency
GUncertain significance
PSAT1
(P4A)
Single nucleotide variant
(missense variant)
PSAT deficiency
GUncertain significance
PSAT1
(D2Y)
Single nucleotide variant
(missense variant)
PSAT deficiency
+1 more
GUncertain significance
PSAT1
Single nucleotide variant
(intron variant)
PSAT deficiency
+1 more
GConflicting classifications of pathogenicity
PSAT1
Single nucleotide variant
(stop lost)
Neu-Laxova syndrome 2
+2 more
GUncertain significance
PSAT1
Single nucleotide variant
(splice acceptor variant)
PSAT deficiency
GUncertain significance
PSAT1
(R306C)
Single nucleotide variant
(missense variant +1 more)
PSAT deficiency
+1 more
GConflicting classifications of pathogenicity
PSAT1
(A15V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSAT1
(D145fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GLikely benign
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
+1 more
GConflicting classifications of pathogenicity
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GLikely benign
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GBenign
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GBenign
PSAT1
Single nucleotide variant
(3 prime UTR variant)
PSAT deficiency
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
+1 more
GBenign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
+1 more
GBenign/Likely benign
PSAT1
Single nucleotide variant
(intron variant)
Neu-Laxova syndrome 2
+1 more
GConflicting classifications of pathogenicity
PSAT1
(K274T)
Single nucleotide variant
(missense variant)
PSAT deficiency
GUncertain significance
PSAT1
Duplication
(intron variant)
Neu-Laxova syndrome 2
+2 more
GConflicting classifications of pathogenicity
PSAT1
Single nucleotide variant
(intron variant)
PSAT deficiency
GUncertain significance
PSAT1
(I123V)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+2 more
GLikely benign
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
+1 more
GBenign
PSAT1
(H19D)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
Single nucleotide variant
(synonymous variant)
Neu-Laxova syndrome 2
+1 more
GConflicting classifications of pathogenicity
PSAT1
(A15P)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
Single nucleotide variant
(5 prime UTR variant)
PSAT deficiency
+1 more
GBenign
PSAT1
(D100A)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GPathogenic
PSAT1
(G36fs)
Deletion
(frameshift variant)
Neu-Laxova syndrome 2
GPathogenic
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