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Items: 1 to 100 of 224

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSAT1
(L319W +1 more)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(F318I +1 more)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(K317T +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(M315L +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(M315L +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(A313T +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(V308I +1 more)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(N302S)
Single nucleotide variant
(missense variant +1 more)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
(K300N)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
PSAT1
(K300N)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
PSAT1
(N297D)
Single nucleotide variant
(missense variant +1 more)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(Q296P)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
PSAT1
(V293A)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
PSAT1
(V293M)
Single nucleotide variant
(missense variant +1 more)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(V250A)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(V250L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(V250I)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
+1 more
GUncertain significance
PSAT1
(Y249C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(C245R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(T242M)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(S238P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(S237G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(F191L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(F191L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(F191L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(K190M)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(S189C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(F181I)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(N180K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(N180K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(N143K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(N143K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(P135L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(G129E)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(G129W)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(L128F)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(P126S)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(R97K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(A95E)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(L93S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(I91T)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(P87L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(P87S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(S84N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(G81S)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(R45S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(H44Q)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(H44Q)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(S43R)
Single nucleotide variant
(missense variant)
PSAT deficiency
GPathogenic
PSAT1
(S43R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(S43R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(M42V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(I37V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(I305V +1 more)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(N301H +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(Y300C +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(Y300H +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(S298C +1 more)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(A297S +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(A297P +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(R296Q +1 more)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(C291R)
Single nucleotide variant
(missense variant +1 more)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(F288C)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(S285Y)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(I282T)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(I281F)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(E280D)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(Q233K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(V232E)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(V232M)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(L228M)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(S226L)
Single nucleotide variant
(missense variant)
PSAT deficiency
+1 more
GUncertain significance
PSAT1
(P225A)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(M177I)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(M177I)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(M177I)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(M177T)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(M177V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(V172L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(V172L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(H125Y)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(I123T)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(K116N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(K116N)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(E114A)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(E113V)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(C80Y)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(G78A)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(K71N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(K71N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(Y70C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(Y70S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(D68G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(P67L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(G36R)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(K33R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(K33E)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(Y32H)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 2
GUncertain significance
PSAT1
(D31N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSAT1
(I25V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
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