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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLYCTK
(A142V)
Single nucleotide variant
(missense variant +1 more)
D-Glyceric aciduria
GUncertain significance
GLYCTK
(A378T)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+1 more
GUncertain significance
GLYCTK
(A323T)
Single nucleotide variant
(3 prime UTR variant +2 more)
D-Glyceric aciduria
GUncertain significance
GLYCTK
(R13*)
Single nucleotide variant
(nonsense +1 more)
D-Glyceric aciduria
+1 more
GConflicting classifications of pathogenicity
GLYCTK
(H353fs)
Deletion
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GLYCTK
(P184S)
Single nucleotide variant
(missense variant +2 more)
D-Glyceric aciduria
GUncertain significance
GLYCTK
(Q346E)
Single nucleotide variant
(3 prime UTR variant +2 more)
D-Glyceric aciduria
GUncertain significance
GLYCTK
(C205* +1 more)
Single nucleotide variant
(missense variant +2 more)
D-Glyceric aciduria
+1 more
GUncertain significance
GLYCTK
(G102S)
Single nucleotide variant
(missense variant +1 more)
D-Glyceric aciduria
GUncertain significance
GLYCTK
(A38T)
Single nucleotide variant
(missense variant +1 more)
D-Glyceric aciduria
GUncertain significance
GLYCTK
(P438L)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
GLYCTK
(M128I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
GLYCTK
(W21del)
Deletion
(inframe_deletion +1 more)
D-Glyceric aciduria
GUncertain significance
GLYCTK
(R153W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GLYCTK
(N487S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
GLYCTK
(L520fs)
Deletion
(frameshift variant +1 more)
D-Glyceric aciduria
GPathogenic
GLYCTK
(F483fs)
Deletion
(3 prime UTR variant +2 more)
D-Glyceric aciduria
GPathogenic
GLYCTK
(F493C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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