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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPX1
(Q152* +1 more)
Single nucleotide variant
(nonsense +1 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(P144S +1 more)
Single nucleotide variant
(missense variant +1 more)
Gluthathione peroxidase deficiency
+1 more
GUncertain significance
GPX1
(I142M +1 more)
Single nucleotide variant
(missense variant +1 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(P125S +1 more)
Single nucleotide variant
(missense variant +1 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(P101S +2 more)
Single nucleotide variant
(missense variant +1 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(D138N +2 more)
Single nucleotide variant
(missense variant +1 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(A132V +1 more)
Single nucleotide variant
(missense variant +2 more)
Gluthathione peroxidase deficiency
+1 more
GUncertain significance
GPX1
(G121A +1 more)
Single nucleotide variant
(missense variant +2 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(P101R +1 more)
Single nucleotide variant
(missense variant +2 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(F76L)
Single nucleotide variant
(missense variant +1 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(G75C)
Single nucleotide variant
(missense variant +1 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(D55G)
Single nucleotide variant
(missense variant +1 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(P29T)
Single nucleotide variant
(missense variant)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(P23Q)
Single nucleotide variant
(missense variant)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(A18S)
Single nucleotide variant
(missense variant)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
Microsatellite
(inframe_insertion)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(A10V)
Single nucleotide variant
(missense variant)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(A3V)
Single nucleotide variant
(missense variant)
Gluthathione peroxidase deficiency
GUncertain significance
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