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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPX1
Duplication
not provided
GBenign
GPX1
(P200L +1 more)
Single nucleotide variant
(missense variant +1 more)
Gluthathione peroxidase deficiency
+1 more
GBenign
GPX1
(Q152* +1 more)
Single nucleotide variant
(nonsense +1 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(A148T +1 more)
Single nucleotide variant
(missense variant +1 more)
GPX1-related disorder
GBenign
GPX1
(D145V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
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
(A94S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
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
(S131F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPX1
(G121A +1 more)
Single nucleotide variant
(missense variant +2 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(R119P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPX1
(L111F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPX1
(P101R +1 more)
Single nucleotide variant
(missense variant +2 more)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(L50F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPX1
(Q94P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPX1
(A41P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPX1
Single nucleotide variant
(3 prime UTR variant +2 more)
GPX1-related disorder
GUncertain significance
GPX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
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
(S47F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPX1
(I42T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPX1
(I42F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPX1
(G33S)
Single nucleotide variant
(missense variant)
not specified
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
(A18T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX1
(A18S)
Single nucleotide variant
(missense variant)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(Y17C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX1
Microsatellite
(inframe_insertion)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
Microsatellite
(inframe_deletion)
not provided
GBenign
GPX1
(A13del)
Microsatellite
(inframe_deletion)
not provided
GBenign
GPX1
(A10V)
Single nucleotide variant
(missense variant)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
(R5P)
Single nucleotide variant
(missense variant)
GPX1-related disorder
GBenign
GPX1
(R5W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPX1
(A3V)
Single nucleotide variant
(missense variant)
Gluthathione peroxidase deficiency
GUncertain significance
GPX1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
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